Microphthalmia, syndromic 5 610125 P32243 Myopathy, myofibrillar, ZASP-related 609452 O75112 Cylindromatosis, familial 132700 Q9NQC7 [IgE, elevated level of] 147050 Q9HBE5 {Aplastic anemia} 609135 P01579 Thyroid hormone resistance 188570 P10828 Microphthalmia with coloboma 3 610092 P58304 Pachyonychia congenita, Jackson-Lawler type 167210 Q04695,P04259 {Inflammatory bowel disease 13} 612244 P08183 Charcot-Marie-Tooth disease, type 2B1 605588 P02545 Diabetes mellitus, noninsulin-dependent 125853 Q09428,P35680 Charcot-Marie-Tooth disease, type 2B2 605589 Q71SY5 Coumarin resistance 122700 P11509 Proud syndrome 300004 Q96QS3 Fibrochondrogenesis 228520 P12107 Mitochondrial DNA depletion syndrome 6 (hepatocerebral type 256810 P39210 Argininemia 207800 P05089 Preeclampsia/eclampsia 4 609404 Q6ZVD7 Gallbladder disease 4 611465 Q9H221 {Alcohol dependence, susceptibility to} 103780 P28223,Q8NDN9 Gallbladder disease 1 600803 P21439 {Epilepsy, childhood absence, susceptibility to, 2} 607681 P18507 Multiple myeloma 254500 Q15306 MASS syndrome 604308 P35555 Myopia 21, autosomal dominant 614167 Q9H582 Cataract, Marner type 116800 Q9ULV5 Spondylocostal dysostosis, autosomal recessive 3 609813 Q8NES3 Cowden disease 158350 P60484 Ovarian carcinoma, somatic 167000 P12830 Ichthyosis, lamellar 2 601277 Q86UK0 GM1-gangliosidosis, type I 230500 P16278 {Prostate cancer, familial, susceptibility to} 176807 O96017 Macrocephaly/autism syndrome 605309 P60484 {Inflammatory bowel disease 14} 612245 Q13568 Epidermolysis bullosa simplex, Dowling-Meara type 131760 P02533,P13647 Cataract, sutural, with punctate and cerulean opacities 607133 P43320 Frontometaphyseal dysplasia 305620 P21333 Waardenburg syndrome/albinism, digenic 103470 P14679 Van den Ende-Gupta syndrome 600920 Q96GP6 Retinitis pigmentosa 58 613617 Q8N8E2 Lissencephaly, X-linked 300067 O43602 Focal dermal hypoplasia 305600 Q9H237 Bethlem myopathy 158810 P12109,P12110,P12111 Argininosuccinic aciduria 207900 P04424 Myopathy, distal 2 606070 P43243 Endplate acetylcholinesterase deficiency 603034 Q9Y215 Parkinson disease 9 606693 Q9NQ11 Amyotrophic lateral sclerosis 14 with or without frontotemporal dementia 613954 P55072 Telangiectasia, hereditary hemorrhagic, type 1 187300 P17813 Telangiectasia, hereditary hemorrhagic, type 2 600376 P37023 Complex I, mitochondrial respiratory chain, deficiency of 252010 O75380 Multiple synostoses syndrome 3 612961 P31371 Fanconi anemia, complementation group E 600901 Q9HB96 Aphakia, congenital primary 610256 Q13461 Treacher Collins syndrome 2 613717 Q9Y2S0 Treacher Collins syndrome 3 248390 O15160 Fanconi anemia, complementation group F 603467 Q9NPI8 Microcephaly, epilepsy, and diabetes syndrome 614231 Q9Y5U9 Ehlers-Danlos syndrome, type III 130020 P02461 Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716 P35270 Methionine adenosyltransferase deficiency, autosomal recessive 250850 Q00266 Duchenne muscular dystrophy 310200 P11532 {Alzheimer disease, susceptibility to} 104300 P01023,P12821,Q13867,Q30201,P05164,Q6ZW49 Mental retardation, X-linked, FRAXE type 309548 P51816 Emphysema-cirrhosis, due to AAT deficiency 613490 P01009 Fibular hypoplasia and complex brachydactyly 228900 P43026 Char syndrome 169100 Q92481 {Epidermolysis bullosa dystrophica, autosomal recessive, modifier of} 226600 P03956 Pyruvate dehydrogenase E2 deficiency 245348 P10515 Ulna and fibula, absence of, with sever limb deficiency 276820 O00755 Androgen insensitivity 300068 P10275 Fragile X syndrome 300624 Q06787 Spinocerebellar ataxia, autosomal recessive with axonal neuropathy 607250 Q9NUW8 Mitochondrial DNA depletion syndrome 2 (myopathic type 609560 O00142 Mononeuropathy of the median nerve, mild 613353 Q8TF17 Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 613227 P35219 Leukemia, chronic myeloid 608232 P11274 Coenzyme Q10 deficiency 607426 Q7Z2E3,Q8NI60,Q96H96,O75208,Q5T2R2,Q86YH6 Myasthenic syndrome, congenital, associated with facial dysmorphism and acetylcholine receptor deficiency 608931 Q13702 [Blood group, Rodgers] 614374 P0C0L4 Obesity, severe 601665 P37231,P81133 Corneal dystrophy, gelatinous drop-like 204870 P09758 {Asthma} 600807 Q9UIL8 Greig cephalopolysyndactyly syndrome 175700 P10071 Epidermolytic palmoplantar keratoderma 144200 P35527 Dystonia-Parkinsonism, X-linked 314250 P21675 Cognitive impairment with or without cerebellar ataxia 614306 Q9UQD0 Cone-rod dystrophy 15 613660 Q96JP9 Cone-rod dystrophy 14 602093 P43080 Anemia, congenital dyserythropoietic, type I 224120 Q8IWY9 Cone-rod dystrophy 12 612657 O43490 Cone-rod dystrophy 11 610381 Q96IS3 Cone-rod dystrophy 10 610283 Q9H3S1 Lissencephaly 2 (Norman-Roberts type 257320 P78509 Deafness, autosomal dominant 4 600652 Q7Z406 Deafness, autosomal dominant 5 600994 O60443 Branchiootorenal syndrome 2 610896 Q8N196 Neurodegeneration with brain iron accumulation 2B 610217 O60733 Deafness, autosomal dominant 1 124900 O60610 Heinz body anemias, alpha 140700 P69905 Spastic paraplegia 48, autosomal recessive 613647 O43299 Deafness, autosomal dominant 9 601369 O43405 {Microvascular complications of diabetes 6} 612634 P04179 {Age-related maculopathy, susceptibility to} 603075 Q9HB21 Lesch-Nyhan syndrome 300322 P00492 {Major affective disorder} 125480 Q01959 Cataract, congenital, X-linked 302200 Q6T4R5 {Malaria, mild, susceptibility to} 609148 O14931 KBG syndrome 148050 Q6UB99 Alexander disease 203450 P14136 Darsun syndrome 612541 Q9BUM1 Thrombocytopenia, X-linked 313900 P42768 Adult i phenotype with congenital cataract 110800 Q06430,Q8N0V5,Q8NFS9 Insulin-like growth factor I, resistance to 270450 P08069 Multiple pterygium syndrome, lethal type 253290 P02708,Q07001,P07510 C8 deficiency, type II 613789 P07358 {Diabetes mellitus, type 1, susceptibility to} 222100 P00973 Complement factor D deficiency 613912 P00746 Polydactyly, preaxial type II 174500 Q8WVP7 Woolly hair, autosomal dominant 194300 Q7RTS7 Subcortical laminar heterotopia 607432 P43034 Metaphyseal chondrodysplasia, Schmid type 156500 Q03692 Schopf-Schulz-Passarge syndrome 224750 Q9GZT5 Thyroid carcinoma, papillary 188550 Q8TBA6,Q13772,Q15154,O15164,Q9UPN9 Best macular dystrophy 153700 O76090 Wolcott-Rallison syndrome 226980 Q9NZJ5 46XY sex reversal 2, dosage-sensitive 300018 P51843 Beare-Stevenson cutis gyrata syndrome 123790 P21802 Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis 612714 Q96KJ9 Avascular necrosis of the femoral head 608805 P02458 Microphthalmia, isolated 5 611040 Q9BY79 Hyperinsulinemic hypoglycemia, familial, 2 601820 Q14654 Microphthalmia, isolated 7 613704 Q9NR23 Microphthalmia, isolated 6 613517 P0CW18 {Epilepsy, juvenile myoclonic, susceptibility to, 8} 607628 P51788 {Obesity} 601665 P10082 Combined oxidative phosphorylation deficiency 8 614096 Q5JTZ9 {Mycobacterial and salmonella infections, susceptibility to} 209950 P42701 N-terminal acetyltransferase deficiency 300855 P41227 Combined oxidative phosphorylation deficiency 3 610505 P43897 Combined oxidative phosphorylation deficiency 2 610498 Q9Y3D3 Combined oxidative phosphorylation deficiency 1 609060 Q96RP9 van der Woude syndrome 2 606713 Q96MR6 Combined oxidative phosphorylation deficiency 7 613559 Q9H3J6 Combined oxidative phosphorylation deficiency 6 300816 O95831 Combined oxidative phosphorylation deficiency 5 611719 P82650 Combined oxidative phosphorylation deficiency 4 610678 P49411 {Macular degeneration, age-related, 7} 610149 Q92743 Cleidocranial dysplasia 119600 Q13950 Methylmalonic aciduria and homocystinuria, cblD type 277410 Q9H3L0 Neutrophilia, hereditary 162830 Q99062 Nystagmus, infantile periodic alternating, X-linked 310700 Q6ZUT3 Acne inversa, familial, 1 142690 Q92542 Acne inversa, familial, 3 613737 P49768 Acne inversa, familial, 2 613736 Q9NZ42 Myotonia congenita, dominant 160800 P35523 ABCD syndrome 600501 P24530 Insensitivity to pain, channelopathy-associated 243000 Q15858 {Breast cancer, male, susceptibility to} 114480 P51587 Neutropenia, nonimmune chronic idiopathic, of adults 607847 Q99684 Malouf syndrome 212112 P02545 {Coronary heart disease, susceptibility to, 5} 608901 O60229 Bronchiectasis with or without elevated sweat chloride 1 211400 P51168 Bronchiectasis with or without elevated sweat chloride 2 613021 P37088 Carcinoid tumors, intestinal 114900 O14521 Hartnup disorder 234500 Q695T7 Alpha-2-plasmin inhibitor deficiency 262850 P08697 {Uric acid concentration, serum, QTL 2} 612076 Q9NRM0 Lactase deficiency, congenital 223000 P09848 Iminoglycinuria, digenic 242600 Q495M3,Q695T7,Q9NP91 Squamous cell carcinoma, head and neck, somatic 275355 P60484 Long QT syndrome-7 170390 P63252 Long QT syndrome-6 613693 Q9Y6J6 Long QT syndrome-5 613695 P15382 Long QT syndrome-4 600919 Q01484 Long QT syndrome-3 603830 Q14524 Long QT syndrome-2 613688 Q12809 Long QT syndrome-1 192500 P51787 Mental retardation, X-linked 41 300849 P31150 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 613155 Q9Y6A1 Mental retardation, X-linked 45 300498 P51508 Long QT syndrome-9 611818 P56539 Mental retardation, X-linked 46 300436 Q15052 Charcot-Marie-Tooth disease, type 4H 609311 Q96M96 Charcot-Marie-Tooth disease, type 4J 611228 Q92562 {Diabetes mellitus, non-insulin-dependent, susceptibility to} 125853 P22413 Hypophosphatasia, infantile 241500 P05186 Hydatidiform mole 231090 Q8WX94 Charcot-Marie-Tooth disease, type 4A 214400 Q8TB36 Porphyria, hepatoerythropoietic 176100 P06132 Charcot-Marie-Tooth disease, type 4C 601596 Q8TF17 Charcot-Marie-Tooth disease, type 4D 601455 Q92597 Charcot-Marie-Tooth disease, type 4F 145900 Q9BXM0 Interleukin-2 receptor, alpha chain, deficiency of 606367 P01589 Myopathy, actin, congenital, with excess of thin myofilaments 161800 P68133 Glucocorticoid deficiency 2 607398 Q8TCY5 {Glioblastoma, susceptibility to} 137800 P37231 Chrondrodysplasia, acromesomelic, with genital anomalies 609441 O00238 {Mycobacterium tuberculosis, susceptibility to} 607948 P13500,Q9NNX6,Q9HB58 Galactokinase deficiency with cataracts 230200 P51570 {Hepatitis C virus, resistance to} 609532 P51681 Myopathy, centronuclear 160150 P50570 Tetra-amelia, autosomal recessive 273395 P56703 Ectodermal dysplasia, hypohidrotic, autosomal dominant 129490 Q9UNE0 Norum disease 245900 P04180 Rett syndrome, congenital variant 613454 P55316 Glycogen storage disease, type 0 240600 P54840 Epidermolysis bullosa simplex, Weber-Cockayne type 131800 P02533,P13647 Kabuki syndrome 147920 O14686 Mohr-Tranebjaerg syndrome 304700 O60220 Agammaglobulinemia, X-linked 1 300755 Q06187 Brachiootic syndrome 3 608389 Q15475 {Anorexia nervosa, susceptibility to} 606788 P23560,P28223 Salla disease 604369 Q9NRA2 Megalencephalic leukoencephalopathy with subcortical cysts 604004 Q15049 Meckel syndrome 10 614175 Q9BPU9 Lung cancer, somatic 211980 P41279,Q96BI1 Creatine phosphokinase, elevated serum 123320 P56539 Hyperprolinemia, type I 239500 O43272 Pyogenic sterile arthritis, pyoderma gangrenosum, and acne 604416 O43586 {Breast-ovarian cancer, familial, 1} 604370 P38398 Cardiomyopathy, familial hypertrophic, 19 613875 Q96L12 Cardiomyopathy, familial hypertrophic, 18 613874 P26678 Deafness, digenic, GJB2/GJB3 220290 O75712 Cardiomyopathy, familial hypertrophic, 11 612098 P68032 Cardiomyopathy, familial hypertrophic, 10 608758 P10916 Cardiomyopathy, familial hypertrophic, 13 613243 P63316 Cardiomyopathy, familial hypertrophic, 12 612124 P50461 Cardiomyopathy, familial hypertrophic, 15 613255 P18206 Cardiomyopathy, familial hypertrophic, 14 613251 P13533 Cardiomyopathy, familial hypertrophic, 16 613838 Q9NPC6 Heterotopia, periventricular, ED variant 300537 P21333 Central hypoventilation syndrome, congenital, with or without Hirschsprung disease 209880 Q99453 Properdin deficiency, X-linked 312060 P27918 Keratosis palmoplantaris striata I 148700 Q02413 Diamond-blackfan anemia 3 610629 P62847 Noonan-like syndrome with loose anagen hair 607721 Q9UQ13 Immunodeficiency, isolated 300584 Q9Y6K9 {Diabetes mellitus, type 2, susceptibility to} 125853 Q14654,Q9NQB0 Febrile seizures, familial, 8 611277 P18507 Candidiasis, familial, 2, autosomal recessive, 212050 (3 212050 Q9H257 Febrile seizures, familial, 4 604352 Q8WXG9 Parkinson disease 7, autosomal recessive early-onset 606324 Q99497 Ectodermal dysplasia, hidrotic 129500 O95452 Silver spastic paraplegia syndrome 270685 Q96G97 Thromboxane synthase deficiency 614158 P24557 Glioblastoma, somatic 137800 P04626 Basal cell nevus syndrome 109400 Q13635 Raine syndrome 259775 Q8IXL6 Pseudohypoaldosteronism, type I 264350 P37088,P51168,P51170 {Leukemia, acute myeloid, susceptibility to} 601626 P23769 LIG4 syndrome 606593 P49917 Pseudohypoaldosteronism type I, autosomal dominant 177735 P08235 Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects 245600 O94766 Brunner syndrome 300615 P21397 Cerebrotendinous xanthomatosis 213700 Q02318 Ossification of posterior longitudinal ligament of spine 602475 P22413 Succinic semialdehyde dehydrogenase deficiency 271980 P51649 Diamond-Blackfan anemia 10 613309 P62854 Ichthyosis, lamellar, autosomal recessive 242300 P22735 Trigonocephaly 190440 P11362 Ectopia lentis, familial 129600 P35555 Smith-Lemli-Opitz syndrome 270400 Q9UBM7 Myopathy, X-linked, with postural muscle atrophy 300696 Q13642 Mental retardation, X-linked, with isolated growth hormone deficiency 300123 P41225 Glutathione synthetase deficiency 266130 P48637 {Coronary artery disease, autosomal dominant, 1} 608320 Q02078 Arrhythmogenic right ventricular dysplasia 11 610476 Q02487 Arrhythmogenic right ventricular dysplasia 10 610193 Q14126 Arrhythmogenic right ventricular dysplasia 12 611528 P14923 Brachydacytly-mental retardation syndrome 600430 P56524 {Obesity, early-onset, susceptibility to} 601665 P01189 Cold-induced sweating syndrome 272430 O75462 {Hypercholesterolemia, susceptibility to} 143890 O96001,Q14624 Osteopetrosis, autosomal dominant 1 607634 O75197 [Analgesia from kappa-opioid receptor agonist, female-specific] 613098 Q01726 Osteopetrosis, autosomal dominant 2 166600 P51798 {Glaucoma, normal tension, susceptibility to} 606657 O60313,Q96CV9 Ichthyosis with hypotrichosis 610765 Q9Y5Y6 Cervical cancer, somatic 603956 P22607 Corneal dystrophy, Reis-Bucklers type 608470 Q15582 Cardiomyopathy, dilated, 1EE 613252 P13533 Hyperlipoproteinemia, type Ib 207750 P02655 Auditory neuropathy, autosomal recessive, 1 601071 Q9HC10 Amelogenesis imperfecta, type IIA2 612529 O60882 Amelogenesis imperfecta, type IIA1 204700 Q9Y5K2 Opitz G syndrome, type I 300000 O15344 Muscular dystrophy, congenital, due to partial LAMA2 deficiency 607855 P24043 Wilms tumor 194070 P51587 Stickler syndrome V 614284 Q14055 SED congenita 183900 P02458 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410 P21802 {Attention deficit-hyperactivity disorder, susceptibility to} 143465 P21918 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 612674 Q8N2K0 Obesity, autosomal dominant 601665 P32245 Ichthyosis, X-linked 308100 P08842 Retinitis pigmentosa 18 601414 O43395 Retinitis pigmentosa 19 601718 P78363 Hepatocellular carcinoma 114550 P35222,P04637 Methylmalonyl-CoA epimerase deficiency 251120 Q96PE7 Retinitis pigmentosa 13 600059 Q6P2Q9 Retinitis pigmentosa 10 180105 P20839 Multiple synostoses syndrome 2 610017 P43026 Choreoacanthocytosis 200150 Q96RL7 Pleuropulmonary blastoma 601200 Q9UPY3 Retinitis pigmentosa 14 600132 O00294 Bernard-Soulier syndrome, type C 231200 P14770 Bernard-Soulier syndrome, type B 231200 P13224 Breast cancer, early-onset 114480 Q9BX63 GABA-transaminase deficiency 613163 P80404 Hypoparathyroidism, familial isolated 146200 O75603 Mesothelioma, somatic 156240 P19544 Diarrhea 5, with tufting enteropathy, congenital 613217 P16422 Osteogenesis imperfecta, type VI 610698 Q96AY3 Alport syndrome, autosomal recessive 203780 Q01955,P53420 Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia 141500 O00555 Aniridia 106210 P26367 Hennekam lymphangiectasia-lymphedema syndrome 235510 Q6UXH8 Alstrom syndrome 203800 Q8TCU4 Glycogen storage disease VII 232800 P08237 Hypomagnesemia 1, intestinal 602014 Q9BX84 Neuromuscular disease, congenital, with uniform type 1 fiber 117000 P21817 Alkaptonuria 203500 Q93099 Autoimmune disease, susceptibility to, 6 613551 Q9HAT2 Crisponi syndrome 601378 O75462 Hyperinsulinism-hyperammonemia syndrome 606762 P00367 Rhabdoid tumors, somatic 609322 Q12824 {Neural tube defects, folate-sensitive, susceptibility to} 601634 Q9UBK8,Q99707 Osteopoikilosis 166700 Q9Y2U8 Trypsinogen deficiency 614044 P07477 Lipoprotein lipase deficiency 238600 P06858 Multiple synostosis syndrome 1 186500 Q13253 Feingold syndrome 164280 P04198 Cardiac conduction defect, nonspecific 612838 Q07699 Hepatocellular carcinoma, childhood type 114550 P08581 3-Methylcrotonyl-CoA carboxylase 1 deficiency 210200 Q96RQ3 Hypokalemic periodic paralysis, type 1 170400 Q13698 Ciliary dyskinesia, primary, 7, with or without situs inversus 611884 Q96DT5 Hyperbiliverdinemia 614156 P53004 {Hemolytic uremic syndrome, atypical, susceptibility to, 4} 612924 P00751 Vitelliform macular dystrophy, adult-onset 608161 O76090 N-acetylglutamate synthase deficiency 237310 Q8N159 Thrombocythemia, somatic 187950 Q9UQQ2 {Epilepsy, idiopathic generalized, susceptibility to, 6} 611942 O95180 Mental retardation, autosomal recessive 3 608443 Q6P1N0 Mental retardation, autosomal recessive 2 607417 Q96SW2 Mental retardation, autosomal recessive 1 249500 P56730 Rhabdomyosarcoma 2, alveolar 268220 P23760,P23759 Mental retardation, autosomal recessive 7 611093 Q13454 Colon cancer, hereditary nonpolyposis, type 7 614385 Q9UHC1 Immunodeficiency, common variable, 5 613495 P11836 Hawkinsinuria 140350 P32754 {Atypical mycobacteriosis, familial} 300636 Q9Y6K9 Immunodeficiency, common variable, 6 613496 P60033 Charcot-Marie-Tooth disease, dominant intermediate 3 607791 P25189 [Hex A pseudodeficiency] 272800 P06865 3-methylglutaconic aciduria, type III 258501 Q9H6K4 Immunodeficiency, common variable, 2 240500 O14836 Chondrodysplasia, Grebe type 200700 P43026 Polyposis, juvenile intestinal 174900 P36894,Q13485 {Microvascular complications of diabetes 1} 603933 P15692 Usher syndrome, type 1C 276904 Q9Y6N9 Myasthenic syndrome, fast-channel congenital 608930 P02708,Q07001,Q04844 [Bilirubin, serum level of, QTL1] 601816 P35504,P22309,O60656,Q9HAW8,Q9HAW9,P19224,P22310,P35503,Q9HAW7 Leiomyomatosis, diffuse, with Alport syndrome 308940 Q14031 Hydranencephaly with abnormal genitalia 300215 Q96QS3 Usher syndrome, type 1F 602083 Q96QU1 Glaucoma 1, open angle, E 137760 Q96CV9 Glaucoma 1, open angle, G 609887 Q8NI36 Pituitary adenoma, prolactin-secreting 600634 O00170 Fletcher factor deficiency 612423 P03952 Martsolf syndrome 212720 Q9H2M9 Central hypoventilation syndrome 209880 P39905 Muscular dystrophy, congenital, megaconial type 602541 Q9Y259 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome 609528 O95721 N syndrome 310465 P09884 Gastrointestinal stromal tumor, somatic 606764 P10721,P16234 Erythrocytosis, familial, 3 609820 Q9GZT9 Erythrocytosis, familial, 2 263400 P40337 Ehlers-Danlos syndrome, cardiac valvular form 225320 P08123 Colon cancer, somatic 114500 O95999,Q12913 Charcot-Marie-Tooth disease, dominant intermediate C 608323 P54577 Charcot-Marie-Tooth disease, dominant intermediate B 606482 P50570 Neutropenia, severe congenital 1, autosomal dominant 202700 P08246 Endometrial cancer, familial 608089 P52701 Ceroid lipofuscinosis, neuronal, 10 610127 P07339 Mental retardation with language impairment and autistic features 613670 Q9H334 Laing distal myopathy 160500 P12883 Pitt-Hopkins like syndrome 1 610042 Q9UHC6 Cutis laxa, autosomal recessive, type IIB 612940 P32322 Amelogenesis imperfecta, type IC 204650 Q9NRM1 Amelogenesis imperfecta, type IB 104500 Q9NRM1 {Bleeding disorder, platelet-type, 13, susceptibility to} 614009 P21731 Fibromatosis, gingival 135300 Q07889 Pyruvate kinase deficiency 266200 P30613 Paroxysmal nonkinesigenic dyskinesia 118800 Q8N490 Leri-Weill dyschondrosteosis 127300 O15266,O15266 Mental retardation, X-linked 21/34 300143 Q9NZN1 Epidermodysplasia verruciformis 226400 Q7Z403,Q8IU68 Klippel-Feil syndrome 3, autosomal dominant 613702 Q9NR23 Mycobacterial infection, atypical, familial disseminated 209950 P15260,P42224 Porphyria variegata 176200 P50336 {Debrisoquine sensitivity} 608902 P10635 {Toxic epidermal necrolysis, susceptibility to} 608579 P30461,P30498,P30484,P30491,P03989,P30487,P30475,P30480,P18464,P30460,Q31612,Q29940,P18465,P30492,P30490,P30493,Q04826,P30483,P18463,P30466,P30464,Q29718,P30462,Q31610,P30495,P30481,P30485,P30488,P01889,Q29836,P30685,P10319,O02950,O02874,P30479,Q95365,P30486,O19189 Complement component 4, partial deficiency of 120790 P05155 Amelogenesis imperfecta, hypomaturation type, IIA3 613211 Q3MJ13 Renal tubular acidosis, distal, AR 611590 P02730 Aortic aneurysm, familial thoracic 4 132900 P35749 {Breast-ovarian cancer, familial, 2} 612555 P51587 Hyperkalemic periodic paralysis, type 2 613345 P35499 HARP syndrome 607236 Q9BZ23 Frontotemporal lobar degeneration with ubiquitin-positive inclusions 607485 P28799 Spastic paraplegia-13 605280 P10809 Left ventricular noncompaction 1, with or without congenital heart defects 604169 Q9Y4J8 {Mycobacterium tuberculosis, protection against} 607948 A1A4Y4,P41968 Spinocerebellar ataxia, autosomal recessive 5 606937 Q92610 Renal cell carcinoma, clear cell, somatic 144700 O15527 {Obesity, late-onset} 601665 O00253 Nasu-Hakola disease 221770 Q9NZC2,O43914 Renal tubular acidosis, distal, AD 179800 P02730 Xeroderma pigmentosum, group C 278720 Q01831 Ghosal hematodiaphyseal syndrome 231095 P24557 Hyperalphalipoproteinemia 2 614028 P02656 Glaucoma 3A, primary congenital 231300 Q16678 Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome 238970 Q9Y619 HEM skeletal dysplasia 215140 Q14739 Non-Hodgkin lymphoma, somatic 605027 Q92851 Immunodeficiency due to purine nucleoside phosphorylase deficiency 613179 P00491 Ullrich congenital muscular dystrophy 254090 P12109,P12110,P12111 Cold-induced autoinflammatory syndrome, familial 120100 Q96P20 Xeroderma pigmentosum, group G 278780 P28715 Leber congenital amaurosis 2 204100 Q16518 Leber congenital amaurosis 3 604232 Q9P0W8 Angelman syndrome 105830 P51608,Q05086 Leber congenital amaurosis 6 613826 Q96KN7 Leber congenital amaurosis 7 613829 O43186 Leber congenital amaurosis 4 604393 Q9NZN9 Leber congenital amaurosis 5 604537 Q86VQ0 Leber congenital amaurosis 8 613835 P82279 Ectopia lentis, isolated, autosomal recessive 225100 Q6UY14 Thrombophilia due to elevated HRG 613116 P04196 Tyrosine kinase 2 deficiency 611521 P29597 Epilepsy, progressive myoclonic 2B (Lafora 254780 Q6VVB1 Rubinstein-Taybi syndrome 2 613684 Q09472 Cocoon syndrome 613630 O15111 Gaucher disease, type I 230800 P04062 Leukoencephaly with vanishing white matter 603896 Q9UI10 Spinocerebellar ataxia, autosomal recessive 8 610743 Q8NF91 Opremazole poor metabolizer 609535 P33261 Myopathy, myofibrillar, alpha-B crystallin-related 608810 P02511 Hypogonadism, hypogonadotropic 146110 Q9HC23 Transaldolase deficiency 606003 P37837 Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia 300472 P78318 PEPCK deficiency, mitochondrial 261650 Q16822 Neuropathy, distal hereditary motor, type IIB 608634 P04792 Emphysema due to AAT deficiency 613490 P01009 Hajdu-Cheney syndrome 102500 Q04721 Restrictive dermopathy, lethal 275210 P02545,O75844 Immunodeficiency with hyper IgM, type 4 608106 P13051 {Ossification of the posterior longitudinal spinal ligaments} 602475 P12109 Maple syrup urine disease, type III 248600 P09622 Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy 606346 Q9UM54 Temtamy preaxial brachydactyly syndrome 605282 Q86X52 von Willebrand disease, type 2A, 2B, 2M, and 2N 613554 P04275 {Melanoma, cutaneous malignant, 6} 613972 O43542 Neuroblastoma with Hirschsprung disease 613013 Q99453 Polyhydramnios, megalencephaly, and symptomatic epilepsy 611087 Q7RTN6 Bannayan-Riley-Ruvalcaba syndrome 153480 P60484 Meleda disease 248300 P55000 Cleft palate and mental retardation 119540 Q9UPW6 Cardiomyopathy, dilated, 1DD 613172 Q5T481 Polycystic kidney disease, adult type I 173900 P98161 Epidermolysis bullosa, generalized atrophic benign 226650 Q16787 Deafness, autosomal recessive 31 607084 Q9P202 Deafness, autosomal recessive 36 609006 B1AK53 Deafness, autosomal recessive 37 607821 Q9UM54 {Rheumatoid arthritis, progression of} 180300 P22301 Deafness, autosomal recessive 35 608565 O95718 {Osteoarthritis susceptibility 1} 165720 Q92765 Ataxia with isolated vitamin E deficiency 277460 P49638 Deafness, autosomal recessive 39 608265 P14210 Charcot-Marie-Tooth disease, type 4B2 604563 Q86WG5 Charcot-Marie-Tooth disease, type 4B1 601382 Q13614 Osteoglophonic dysplasia 166250 P11362 Brachydactyly, type C 113100 P43026 {Schizophrenia 15} 613950 Q9BYB0 Spondylometaepiphyseal dysplasia, short limb-hand type 271665 Q16832 Brachydactyly, type D 113200 P35453 Brachydactyly, type E 113300 P35453 AICA-ribosiduria due to ATIC deficiency 608688 P31939 Spondyloepimetaphyseal dysplasia, Missouri type 602111 P45452 Mental retardation, anterior maxillary protrusion, and strabismus 613671 A7XYQ1 Spondyloperipheral dysplasia 271700 P02458 Mucopolysaccharidosis type IIID 252940 P15586 Hypoinsulinemic hypoglycemia with hemihypertrophy 240900 P31751 Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 125310 Q9UM47 Czech dysplasia 609162 P02458 Complement factor I deficiency 610984 P05156 Cardiomyopathy, familial restrictive 115210 P19429 {Mesothelioma, somatic} 156240 O95999 Myopathy, centronuclear, 3 614408 P23409 Otopalatodigital syndrome, type II 304120 P21333 Charcot-Marie-Tooth disease, type 1B 118200 P25189 {Warfarin sensitivity} 122700 P00740 Creatine deficiency syndrome, X-linked 300352 P48029 Fibrodysplasia ossificans progressiva 135100 Q04771 Spondyloepimetaphyseal dysplasia 608728 O15232 Leukoencephalopathy, cystic, without megalencephaly 612951 O00584 Phosphoserine aminotransferase deficiency 610992 Q9Y617 Syndactyly, type III 186100 P17302 CPT deficiency, hepatic, type IA 255120 P50416 Mucopolysaccharidosis type IVB (Morquio 253010 P16278 CPT deficiency, hepatic, type II 600649 P23786 Cardiomyopathy, familial restrictive, 3 612422 P45379 Central hypoventilation syndrome, congenital 209880 P50553,P23560,P14138,P07949 Holt-Oram syndrome 142900 Q99593 Pelger-Huet anomaly 169400 Q14739 Severe combined immunodeficiency due to ADA deficiency 102700 P00813 [High molecular weight kininogen deficiency] 228960 P01042 Glaucoma, primary open angle, juvenile-onset 137750 Q16678 Thyroid hormone metabolism, abnormal 609698 Q96T21 Thyroid hormone resistance, selective pituitary 145650 P10828 {Prostate cancer, hereditary, 13} 611928 P08118 Neuropathy, hereditary sensory, type IIC 614213 Q12756 Acyl-CoA dehydrogenase, short-chain, deficiency of 201470 P16219 Cutis laxa, autosomal recessive, type II 219200 Q9Y487 Peripheral neuropathy, myopathy, hoarseness, and hearing loss 614369 Q7Z406 Allan-Herndon-Dudley syndrome 300523 P36021 Cranioosteoarthropathy 259100 P15428 Mental retardation, X-linked syndromic, Turner type 300706 Q7Z6Z7 Camurati-Engelmann disease 131300 P01137 Ataxia, spastic, 4 613672 Q9NVV4 Myasthenic syndrome, acetazolamide-responsive 614198 P35499 Epilepsy, progressive myoclonic 4, with or without renal failure 254900 Q14108 Eagle-Barrett syndrome 100100 P20309 {Accelerated tumor formation, susceptibility to} 614401 Q00987 Keratosis follicularis spinulosa decalvans, X-linked 308800 O43462 Kufs disease, autosomal dominant 162350 Q9H3Z4 Metatropic dysplasia 156530 Q9HBA0 {Glioblastoma 3} 613029 P51587 Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome 601559 P42702 Omenn syndrome 603554 Q96SD1,P15918,P55895 {Hemolytic uremic syndrome, atypical, susceptibility to, 5} 612925 P01024 {Diabetes, type 1, susceptibility to} 222100 Q14573,Q9Y2R2 Trichotillomania 613229 Q96PX8 Marshall syndrome 154780 P12107 Pseudopseudohypoparathyroidism 612463 P84996,P63092,Q5JWF2,O95467 Methylmalonic aciduria and homocystinuria, cblF type 277380 Q9NUN5 Myopathy, myosin storage 608358 P12883 Usher syndrome, type 2C 605472 Q8WXG9 Usher syndrome, type 2A 276901 O75445 Usher syndrome, type 2D 611383 Q9P202 SC phocomelia syndrome 269000 Q56NI9 Metaphyseal chondrodysplasia, Murk Jansen type 156400 Q03431 {Mycobacterium tuberculosis, susceptibility to infection by} 607948 P49279 Seizures, benign familial infantile, 3 607745 Q99250 Cholestasis, benign recurrent intrahepatic 243300 O43520 {Hirschsprung disease, susceptibility to, 1} 142623 P07949 Microcephaly, primary autosomal recessive, 6 608393 Q9HC77 Watson syndrome 193520 P21359 Osteopetrosis, autosomal recessive 2 259710 O14788 Osteopetrosis, autosomal recessive 1 259700 Q13488 Osteopetrosis, autosomal recessive 7 612301 Q9Y6Q6 Osteopetrosis, autosomal recessive 6 611497 Q9Y4G2 Osteopetrosis, autosomal recessive 5 259720 Q86WC4 Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency 250850 Q00266 Porphyria cutanea tarda 176100 P06132 {Systemic lupus erythematosus, resistance to} 601744 O60602 Amyotrophic lateral sclerosis 11 612577 Q92562 Pyruvate dehydrogenase E1-alpha deficiency 312170 P08559 3-M syndrome 1 273750 Q14999 3-M syndrome 2 612921 O75147 Amyloidosis, primary localized cutaneous, 2 613955 Q8NI17 Amyloidosis, primary localized cutaneous, 1 105250 Q99650 Kindler syndrome 173650 Q9BQL6 {Porphyria variegata, susceptibility to} 176200 Q30201 Carpenter syndrome 201000 Q9ULC3 Duane-radial ray syndrome 607323 Q9UJQ4 Newfoundland rod-cone dystrophy 607476 P12271 Corneal dystrophy, lattice type IIIA 608471 Q15582 Cone-rod retinal dystrophy-2 120970 O43186 {Leprosy, susceptibility to, 5} 613223 Q15399 Transposition of great arteries, dextro-looped 3 613854 P27539 Cone-rod dystrophy 13 608194 Q96KN7 Cataract, cortical, juvenile-onset 611391 Q12934 Asphyxiating thoracic dystrophy 5 614376 Q8NEZ3 Small patella syndrome 147891 P57082 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 613818 Q14118 Mitochondrial complex I deficiency 252010 Q96CU9,O15239,Q86Y39,Q9Y375,Q8N183,Q9BU61,Q9P032,P28331,O75306,O43181,P49821,P19404,Q8TB37 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155 Q9H9S5 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 611588 O75072 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 613157 Q8WZA1 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 613158 Q9UKY4 Leukotriene C4 synthase deficiency 614037 Q16873 Asphyxiating thoracic dystrophy 3 613091 Q8NCM8 Fibrosis of extraocular muscles, congenital, 3A 600638 Q13509 McCune-Albright syndrome 174800 P84996,P63092,Q5JWF2,O95467 Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia 300853 Q9H0U3 von Hippel-Lindau syndrome 193300 P40337 Craniometaphyseal dysplasia 123000 Q9HCJ1 Dystonia, DOPA-responsive, with or without hyperphenylalainemia 128230 P30793 Leiomyomatosis and renal cell cancer 150800 P07954 {Nicotine dependence, susceptibility to} 188890 O75899 Brachydactyly, type E2 613382 P12272 [AMP deaminase deficiency, erythrocytic] 612874 Q01432 {Pancreatitis, chronic, protection against} 167800 P07478 {Autism susceptibility 15} 612100 Q9UHC6 Scapuloperoneal spinal muscular atrophy 181405 Q9HBA0 {Moyamoya disease 2, susceptibility to} 607151 Q63HN8 Smith-McCort dysplasia 607326 Q7RTS9 Fertile eunuch syndrome 228300 P30968 Craniofacial anomalies and anterior segment dysgenesis syndrome 614195 Q9NZR4 Cranioectodermal dysplasia 218330 Q9HBG6 Slowed nerve conduction velocity, AD 608236 O15013 Dejerine-Sottas disease, autosomal recessive 145900 Q9BXM0 D-2-hydrosyglutaric aciduria 2 613657 P48735 Corneal dystrophy, congenital stromal 610048 P07585 Epilepsy, progressive myoclonic 6 614018 O14653 Complement factor H deficiency 609814 P08603 Epilepsy, progressive myoclonic 5 613832 Q7Z3G6 Epilepsy, progressive myoclonic 3 611726 Q96MP8 Campomelic dysplasia 114290 P48436 Pseudohermaphroditism, male, with gynecomastia 264300 P37058 Platelet-activating factor acetylhydrolase deficiency 614278 Q13093 Osseous heteroplasia, progressive 166350 P84996,P63092,Q5JWF2,O95467 Craniosynostosis, type 1 123100 Q15672 Craniosynostosis, type 2 604757 P35548 Prader-Willi syndrome 176270 Q99608,P63162 Lipodystrophy, congenital generalized, type 1 608594 O15120 Ptosis, congenital 178300 Q86UP3 Lipodystrophy, congenital generalized, type 2 269700 Q96G97 Lipodystrophy, congenital generalized, type 4 613327 Q6NZI2 Dementia, frontotemporal 600274 P49768 Striatonigral degeneration, infantile 271930 P37198 Orofacial cleft 6 608864 O14896 {Systemic lupus erythematosus, susceptibility to, 2} 605218 Q15116 Pyropoikilocytosis 266140 P02549 Myelofibrosis, somatic 254450 Q9UQQ2 Mulibrey nanism 253250 O94972 C1r/C1s deficiency, combined 216950 P00736 Spondylometaphyseal dysplasia, Kozlowski type 184252 Q9HBA0 [Blood group, Ii] 110800 Q06430,Q8N0V5,Q8NFS9 Darier disease 124200 P16615 Scapuloperoneal myopathy, X-linked dominant 300695 Q13642 Insensitivity to pain, congenital, with anhidrosis 256800 P04629 Paraganglioma and gastric stromal sarcoma 606864 P21912,Q99643,O14521 Achromatopsia-4 613856 P19087 Immunodeficiency, common variable, 3 613493 P15391 Galactose epimerase deficiency 230350 Q14376 Achromatopsia-3 262300 Q9NQW8 Achromatopsia-2 216900 Q16281 Severe combined immunodeficiency, Athabascan type 602450 Q96SD1 Myopathy, distal, Tateyama type 614321 P56539 Cardiomyopathy, familial hypertrophic 6 600858 Q9UGJ0 [Erythrocytosis, familial, 1] 133100 P19235 Factor XIIIA deficiency 613225 P00488 46XY sex reversal 1 400044 Q05066 Corneal endothelial dystrophy 2 217700 Q8NBS3 46XY sex reversal 3 612965 Q13285 46XY sex reversal 5 613080 Q14781 46XY sex reversal 6 613762 Q13233 46XY sex reversal 7 233420 O43323 46XY sex reversal 8 614279 P52895 Bloom syndrome 210900 P54132 Retinitis pigmentosa 60 613983 O94906 Agnathia-otocephaly complex 202650 P54821 {Myocardial infarcation, susceptibility to} 608446 P60900 Insomnia, fatal familial 600072 P04156 {Coronary heart disease, susceptibility to, 7} 610938 P16671 Radioulnar synostosis with amegakaryocytic thrombocytopenia 605432 P31270 Short rib-polydactyly syndrome, type V 614091 Q9P2L0 Hyperpehnylalaninemia, BH4-deficient, B 233910 P30793 Cataract, zonular pulverulent-3 601885 Q9Y6H8 Cataract, zonular pulverulent-1 116200 P48165 {Attention deficit-hyperactivity disorder} 143465 P21917 Joubert syndrome-3 608629 Q8N157 Microphthalmia, isolated 2 610093 P58304 Cerebrooculofacioskeletal syndrome 4 610758 P07992 Cerebrooculofacioskeletal syndrome 2 610756 P18074 Hypoparathyroidism, autosomal recessive 146200 P01270 Cerebrooculofacioskeletal syndrome 1 214150 Q03468 Pyridoxamine 5'-phosphate oxidase deficiency 610090 Q9NVS9 Retinitis pigmentosa, digenic 608133 P23942 {Crohn disease-associated growth failure} 266600 P05231 Naegeli-Franceschetti-Jadassohn syndrome 161000 P02533 {Obesity, susceptibility to, BMIQ4} 607447 P55851 Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 167320 P55072 Precocious puberty, central 176400 Q969F8 {Major depressive disorder, response to citalopram therapy in} 608516 P28223 VATER association with macrocephaly and ventriculomegaly 276950 P60484 Methylmalonic aciduria, mut type, (3 251000 P22033 Thrombophilia due to protein C deficiency, autosomal recessive 612304 P04070 Cataract, autosomal dominant, multiple types 1 611597 Q13515 Glomuvenous malformations 138000 Q92990 [Axillary odor, variation in] 117800 Q96J66 Lymphoma, non-Hodgkin 605027 P14222 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 613153 Q9H9S5 {Hypertension, pregnancy-induced} 189800 P29474 Cardiomyopathy, familial hypertrophic 192600 P56539,P12235 Asphyxiating thoracic dystrophy 4 613819 Q7Z4L5 Citrullinemia, type II, neonatal-onset 605814 Q9UJS0 Asphyxiating thoracic dystrophy 2 611263 Q9P2H3 Juvenile polyposis syndrome, infantile form 174900 P36894 Progesterone resistance 264080 P06401 Scapuloperoneal syndrome, myopathic type 181430 P12883 C3 deficiency 613779 P01024 Cyanosis, transient neonatal 613977 P69892 {Ischemic stroke, susceptibility to} 601367 P29474 Myopathy, proximal, with early respiratory muscle involvement 603689 Q8WZ42 Peeling skin syndrome 270300 Q15517 Warfarin resistance 122700 Q9BQB6 Mosaic variegated aneuploidy syndrome 257300 O60566 Growth retardation, developmental delay, coarse facies, and early death 612938 Q9C0B1 Thrombocytopenia-2 188000 Q96GX5 Lactase persistance/nonpersistance 223100 Q14566 Persistent truncus arteriosus 217095 A6NCS4 Bestrophinopathy 611809 O76090 Melanoma and neural system tumor syndrome 155755 Q8N726,P42771 Hyperaldosteronism, familial, type III 613677 P48544 {Diabetes mellitus, noninsulin-dependent, susceptibility to} 125853 Q5VV42,P17096,Q9Y6M1,Q9HD89,Q8IWU4 Deafness, autosomal recessive 25 613285 A8MXD5 Deafness, autosomal recessive 24 611022 P35241 Deafness, autosomal recessive 21 603629 O75443 Deafness, autosomal recessive 23 609533 Q96QU1 Deafness, autosomal recessive 22 607039 Q7RTW8 Hemolytic anemia due to glutathione peroxidase deficiency 614164 P07203 Deafness, autosomal recessive 29 614035 O95500 Deafness, autosomal recessive 28 609823 Q9H2D6 Achondrogenesis Ib 600972 P50443 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 609308 Q9Y6A1 Diabetes mellitus, type II 125853 P31751 Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with methylmalonic aciduria 612073 Q9P2R7 Optic atrophy 1 165500 O60313 Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency 201910 P08686 Epidermolysis bullosa of hands and feet 131800 P16144 {AIDS, resistance to} 609423 P48061 Epstein syndrome 153650 P35579 [Glyoxalase II deficiency] 614033 Q16775 Leydig cell hypoplasia with hypergonadotropic hypogonadism 238320 P22888 Skin fragility-woolly hair syndrome 607655 P15924 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 604292 Q9H3D4 Progressive external ophthalmoplegia with mitochondrial DNA deletions 3 609283 P12235 Paragangliomas 2 601650 Q9NX18 Myopathy, spheroid body 182920 Q9UBF9 Paragangliomas 4 115310 P21912 Paragangliomas 5 614165 P31040 [Blood group, Wright] 112050 P02730 {Attention-deficit hyperactivity disorder, susceptibility to} 143465 Q01959 Myasthenic syndrome, congenital, associated with episodic apnea 254210 P28329 Hyperpigmentation, familial progressive, 2 145250 P21583 Cerebral palsy, spastic quadriplegic, 6 614067 Q9Y587 Cerebral palsy, spastic quadriplegic, 5 614066 Q9Y6B7 Cerebral palsy, spastic quadriplegic, 4 613744 Q9UPM8 Cerebral palsy, spastic quadriplegic, 3 612936 O00189 Cerebral palsy, spastic quadriplegic, 2 612900 Q14678 Cerebral palsy, spastic quadriplegic, 1 603513 Q99259 {Bladder cancer, somatic} 109800 P01112 Atrial septal defect 4 611363 Q9UMR3 Bleeding disorder, platelet-type, 8 609821 Q9H244 Leukocyte adhesion deficiency, type III 612840 Q86UX7 Pigmented nodular adrenocortical disease, primary, 2 610475 Q9HCR9 Pigmented nodular adrenocortical disease, primary, 3 614190 O95263 Charcot-Marie-Tooth disease, type 2A1 118210 O60333 Charcot-Marie-Tooth disease, type 2A2 609260 O95140 Pseudoxanthoma elasticum 264800 O95255 Nephronophthisis 11 613550 Q5HYA8 Nephronophthisis 13 614377 Q8NEZ3 Nephronophthisis 12 613820 Q7Z4L5 Chylomicron retention disease 246700 Q9Y6B6 Langer mesomelic dysplasia 249700 O15266,O15266 Small cell cancer of the lung, somatic 182280 P06400 Lymphoproliferative syndrome, EBV-associated, autosomal, 1 613011 Q08881 {Thrombycytosis, susceptibility to} 187950 P40238 Ichthyosis, cyclic, with epidermolytic hyperkeratosis 607602 P04264,P13645 Heart-hand syndrome, Slovenian type 610140 P02545 Megalencephalic leukoencephalopathy with subcortical cysts 2A 613925 Q14CZ8 {Schizoaffective disorder, susceptibility to} 181500 Q9NRI5 {Preterm premature rupture of the membranes, susceptibility to} 610504 P50454 Creutzfeldt-Jakob disease 123400 P04156 Arthrogryposis multiplex congenita, distal, type 2B 601680 P48788 Striatal degeneration, autosomal dominant 609161 O95263 IVIC syndrome 147750 Q9UJQ4 Retinitis pigmentosa 20 613794 Q16518 Brooke-Spiegler syndrome 605041 Q9NQC7 STAR syndrome 300707 Q8N1B3 Retinitis pigmentosa 27 613750 P54845 Retinitis pigmentosa 26 608380 Q49MI3 BCG infection, generalized familial 209950 P15260 Myopathy, nemaline, 3 161800 P68133 Optic atrophy 3 with cataract 165300 Q9H6K4 Weaver syndrome 277590 Q96L73 Pachyonychia congenita, Jadassohn-Lewandowsky type 167200 P08779,P02538 Acampomelic campomelic dysplasia 114290 P48436 {Coronary artery disease, resistance to} 607339 P49238 Corneal endothelial dystrophy and perceptive deafness 217400 Q8NBS3 {Pseudoxanthoma elasticum, modifier of severity of} 264800 Q86Y38,Q9H1B5 Mitochondrial respiratory chain complex II deficiency 252011 P31040 Deafness, autosomal recessive 53 609706 P13942 {Preeclampsia, susceptibility to} 189800 P07099 Glycogen storage disease VI 232700 P06737 MASA syndrome 303350 P32004 Narcolepsy 1 161400 O43612 Basal ganglia disease, biotin-responsive 607483 Q9BZV2 Prostate cancer, progression and metastasis of 603688 P29323 Cirrhosis, North American Indian childhood type 604901 Q969X6 Macular degeneration, age-related, 3 608895 Q9UBX5 Cystinosis, nephropathic 219800 O60931 Sarcoidosis, early-onset 609464 Q9HC29 Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998 Q8NF91 Hemolytic anemia due to adenylate kinase deficiency 612631 P00568 UV-sensitive syndrome 600630 Q03468 Woolly hair, autosomal recessive 2 with or without hypotrichosis 604379 Q8WWY8 Epidermolysis bullosa simplex, Koebner type 131900 P02533,P13647 Progressive external ophthalmoplegia, autosomal dominant, 3 609286 Q96RR1 Neuronopathy, distal hereditary motor, type VI 604320 P38935 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750 P16435 Trichorhinophalangeal syndrome, type III 190351 Q9UHF7 Mismatch repair cancer syndrome 276300 P40692,P43246,P52701,P54278 Megaloblastic anemia-1, Finnish type 261100 O60494 Iridogoniodysgenesis, type 1 601631 Q12948 Iridogoniodysgenesis, type 2 137600 Q99697 Retinal dystrophy, early-onset severe 248200 P78363,O95237 Glaucoma 3, primary congenital, D 613086 Q14767 GM1-gangliosidosis, type II 230600 P16278 Persistent Mullerian duct syndrome, type I 261550 P03971 Microphthalmia, isolated 3 611038 Q9Y2V3 {Prostate cancer, somatic} 176807 P60484 Atelostogenesis, type I 108720 O75369 Waardenburg syndrome, type 2D 608890 O43623 3-hydroxyacyl-CoA dehydrogenase deficiency 231530 Q16836 Hypomagnesemia-2, renal 154020 P54710 Microphthalmia, isolated 4 613094 Q6KF10 Nonaka myopathy 605820 Q9Y223 Pulmonary hypertension, primary, fenfluramine-associated 178600 Q13873 Desmoid disease, hereditary 135290 P25054 Diaphanospondylodysostosis 608022 Q8N8U9 Minicore myopathy with external ophthalmoplegia 255320 P21817 {Multiple sclerosis, susceptibility to} 126200 P25063,P01920,P13760,Q5Y7A7,Q9TQE0,P20039,Q9GIY3,P01911,P01912,Q29974,P04229,P13761,Q30167,O02867,Q30134 Occult macular dystrophy 613587 Q8IWN7 {Hemolytic uremic syndrome, atypical, susceptibility to, 6} 612926 P07204 Ichthyosis, congenital, autosomal recessive 612281 Q0D2K0 {Nicotine addiction, susceptibility to} 188890 P43681 Myosclerosis, congenital 255600 P12110 {Spondyloarthropathy, susceptibility to, 1} 106300 P30461,P30498,P30484,P30491,P03989,P30487,P30475,P30480,P18464,P30460,Q31612,Q29940,P18465,P30492,P30490,P30493,Q04826,P30483,P18463,P30466,P30464,Q29718,P30462,Q31610,P30495,P30481,P30485,P30488,P01889,Q29836,P30685,P10319,O02950,O02874,P30479,Q95365,P30486,O19189 Fucosidosis 230000 P04066 Epileptic encephalopathy, early infantile, 5 613477 Q13813 Epileptic encephalopathy, early infantile, 4 612164 P61764 Epileptic encephalopathy, early infantile, 7 613720 O43526 Epileptic encephalopathy, early infantile, 1 308350 Q96QS3 Epileptic encephalopathy, early infantile, 3 609304 Q9H936 Epileptic encephalopathy, early infantile, 2 300672 O76039 Cutis laxa, autosomal recessive, type I 219100 O95967 Sveinsson choreoretinal atrophy 108985 P28347 Epileptic encephalopathy, early infantile, 9 300088 Q8TAB3 Epileptic encephalopathy, early infantile, 8 300607 O43307 Rolandic epilepsy, mental retardation, and speech dyspraxia 300643 O60687 {Alcohol dependence, protection against} 103780 P00326 Hypotrichosis-lymphedema-telangiectasia syndrome 607823 P35713 Thanatophoric dysplasia, type II 187601 P22607 Warburg micro syndrome 2 614225 Q9H2M9 Schizencephaly 269160 Q04743,Q15465 {Aspergillosis, susceptibility to} 614079 Q9BXN2 {HIV-1 viremia, susceptibility to} 609423 Q29963,Q95604,P30499,P30508,P30501,Q07000,Q29865,Q29960,Q9TNN7,P30504,P10321,P30510,P04222,P30505 Parkinson disease 4 605543 P37840 {Sarcoidosis, susceptibility to, 2} 612387 Q9UIR0 Platyspondylic skeletal dysplasia, Torrance type 151210 P02458 Ectodermal dysplasia/skin fragility syndrome 604536 Q13835 SED, Maroteaux type 184095 Q9HBA0 Hermansky-Pudlak syndrome 8 614077 Q6QNY0 3-hydroxyisobutryl-CoA hydrolase deficiency 250620 Q6NVY1 Hermansky-Pudlak syndrome 4 614073 Q9NQG7 Hermansky-Pudlak syndrome 5 614074 Q9UPZ3 Hermansky-Pudlak syndrome 6 614075 Q86YV9 Hermansky-Pudlak syndrome 7 614076 Q96EV8 Hermansky-Pudlak syndrome 1 203300 Q92902 Hermansky-Pudlak syndrome 2 608233 O00203 Hermansky-Pudlak syndrome 3 614072 Q969F9 Nijmegen breakage syndrome 251260 O60934 Charcot-Marie-Tooth disease, foot deformity of 192950 P28358 Parkinson disease 17 614203 Q96QK1 Parkinson disease 11 607688 Q6Y7W6 Myoglobinuria, acute recurrent, autosomal recessive 268200 Q14693 Paragangliomas 3 605373 Q99643 [Fructosuria] 229800 P50053 Leigh syndrome, due to COX deficiency 256000 Q15526 Parkinson disease 18 614251 Q04637 Amyloidosis, renal 105200 P61626 {Colorectal cancer, susceptibility to, 1} 608812 Q8IXK2 Morning glory disc anomaly 120430 P26367 Exudative vitreoretinopathy 4 601813 O75197 Wiskott-Aldrich syndrome 301000 P42768 Hepatic venoocclusive disease with immunodeficiency 235550 Q9HB58 Exudative vitreoretinopathy 5 613310 O95859 Schneckenbecken dysplasia 269250 Q9NTN3 {Hemangioma, capillary infantile, susceptibility to} 602089 Q9H6X2,P35968 Biotinidase deficiency 253260 P43251 [Skin/hair/eye pigmentation 9, brown/nonbrown eyes] 611742 P42127 Osteosarcoma 259500 P04637 Afibrinogenemia, congenital 202400 P02671,P02675 Mental retardation, X-linked syndromic, Christianson type 300243 Q92581 Keratoconus 1 148300 Q9NZR4 Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses 608180 P23142 Lathosterolosis 607330 O75845 Insulin resistance, severe, digenic 604367 P37231,Q16821 {Macular degeneration, age-related} 603075 P02649 Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 175050 Q13485 Ciliary dyskinesia, primary, 3, with or without situs inversus 608644 Q8TE73 {H. pylori infection, susceptibility to} 600263 P23471,P15260 Metachromatic leukodystrophy 250100 P15289 Rabson-Mendenhall syndrome 262190 P06213 [Glutaric aciduria III] 231690 Q9HAC7 May-Hegglin anomaly 155100 P35579 White sponge nevus 193900 P13646,P19013 Microcephaly, primary autosomal recessive, 5 608716 Q8IZT6 Diabetes insipidus, neurohypophyseal 125700 P01185 Mental retardation, X-linked syndromic, Fried type 300630 P56377 Protoporphyria, erythropoietic, X-linked 300752 P22557 Methylcobalamin deficiency, cblG type 250940 Q99707 Proteus syndrome, somatic 176920 P31749 {Nephrolithiasis, uric acid, susceptibility to} 605990 Q70YC4,Q70YC5 {Epilepsy, idiopathic generalized, susceptibility to, 11} 607628 P51788 [Bone mineral density QTL 12] 612560 Q7Z6M2 Ichthyosis, harlequin 242500 Q86UK0 Bare lymphocyte syndrome, type I 604571 Q03518,O15533 Nail disorder, nonsyndromic congenital, 3, (leukonychia 151600 P51178 Stargardt disease 1 248200 P78363 {Asthma, diminished response to antileukotriene treatment in} 600807 P09917 Renal carcinoma, chromophobe, somatic 144700 Q8NFG4 Spherocytosis, type 1 182900 P16157 Spherocytosis, type 3 270970 P02549 Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria 245400 P53597 Enlarged vestibular aqueduct, digenic 600791 P78508 Palmoplantar verrucous nevus, unilateral 144200 P08779 Microtia, hearing impairment, and cleft palate 612290 O43364 Neural tube defects 182940 Q8TAA9 [Sarcosinemia] 268900 Q9UL12 Amyotrophic lateral sclerosis 10, with or without FTD 612069 Q13148 Succinyl CoA:3-oxoacid CoA transferase deficiency 245050 P55809 Wolfram syndrome 2 604928 Q8N5K1 Brain small vessel disease with hemorrhage 607595 P02462 {Obsessive-compulsive disorder 1} 164230 P31645 Glycogen storage disease Ic 232240 O00476,O43826 Alopecia universalis 203655 O43593 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 604273 Q8N5M1 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 614052 Q9BUB7 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 614053 P56381 Joubert syndrome 2 608091 Q9P0N5 Joubert syndrome 1 213300 Q9NRR6 Joubert syndrome 6 610688 Q5HYA8 Joubert syndrome 7 611560 Q68CZ1 GM1-gangliosidosis, type III 230650 P16278 Joubert syndrome 5 610188 O15078 Niemann-pick disease, type C2 607625 P61916 Goiter, multinodular 1, without Sertoli-Leydig cell tumors 138800 Q9UPY3 Arts syndrome 301835 P60891 Joubert syndrome 9 612285 Q9P2K1 Osteogenesis imperfecta, type XII 613982 P36955 Spinocerebellar ataxia 23 610245 P01213 Retinopathy of prematurity 133780 Q9ULV1 {Colorectal cancer, susceptibility to} 114500 P24385,O60603,O00206 Schimke immunoosseous dysplasia 242900 Q9NZC9 Nemaline myopathy 6 609273 C9JR72 Pigmented nodular adrenocortical disease, primary, 1 610489 P10644 {Diabetes mellitus, noninsulin-dependent, 2} 125853 P20823 Fibrosis of extraocular muscles, congenital, 3B 135700 Q7Z4S6 Amyloidosis, 3 or more types 105200 P02647 Gaucher disease, type II 230900 P04062 Spinocerebellar ataxia 27 609307 Q92915 Alopecia, neurologic defects, and endocrinopathy syndrome 612079 Q9NW13 {HIV/AIDS, susceptibility to} 609423 P16619 46XX sex reversal 2 278850 P48436 46XX sex reversal 1 400045 Q05066 Cardiomyopathy, familial hypertrophic, 9 613765 Q8WZ42 Cardiomyopathy, familial hypertrophic, 8 608751 P08590 Deafness, X-linked 4 300066 Q9UHP9 Deafness, X-linked 2 304400 P49335 Deafness, X-linked 1 304500 P60891 Renal tubular acidosis, proximal, with ocular abnormalities 604278 Q9Y6R1 Cardiomyopathy, familial hypertrophic, 1 192600 P12883 Cardiomyopathy, familial hypertrophic, 3 115196 P09493 Cardiomyopathy, familial hypertrophic, 2 115195 P45379 [Skin/hair/eye pigmentation 2, red hair/fair skin] 266300 Q01726 Cardiomyopathy, familial hypertrophic, 4 115197 Q14896 Cardiomyopathy, familial hypertrophic, 7 613690 P19429 {Hypertension, susceptibility to} 145500 P35228,P29474 Hypomagnesemia 6, renal 613882 Q9H8M5 Glutaricaciduria, type I 231670 Q92947 Parathyroid adenoma with cystic changes 145001 Q6P1J9 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 610131 Q9UHN1 Polycystic liver disease 174050 P14314,Q9UGP8 Odontohypophosphatasia 146300 P05186 Maturity-onset diabetes of the young 6 606394 Q13562 Hyperglycinuria 138500 Q495M3,Q695T7,Q9NP91 Neuropathy, congenital hypomyelinating 605253 P25189 Craniofrontonasal dysplasia 304110 P98172 Cardiomyopathy, dilated, 1FF 613286 P19429 Bartter syndrome, type 4a 602522 Q8WZ55 Thalassemia, alpha 604131 P69905 Wilms tumor, somatic 194070 P51654 Myxoma, intracardiac 255960 P10644 {Scoliosis, idiopathic 3} 608765 Q9P2D1 Cardiomyopathy, familial hypertrophic, 20 613876 Q0ZGT2 Premature ovarian failure 1 311360 Q06787 Mullerian aplasia and hyperandrogenism 158330 P56705 Neuronopathy, distal hereditary motor, type IIC 613376 Q12988 Premature ovarian failure 4 300510 O95972 Premature ovarian failure 5 611548 O60393 Premature ovarian failure 6 612310 Q6QHK4 Premature ovarian failure 7 612964 Q13285 Schindler disease, type I 609241 P17050 Spermatogenic failure, Y-linked, 2 415000 O00507 Mental retardation, X-linked, syndromic 14 300676 Q9BZI7 Corneal dystrophy, epithelial basement membrane 121820 Q15582 Dyssegmental dysplasia, Silverman-Handmaker type 224410 P98160 Spastic paralysis, infantile onset ascending 607225 Q96Q42 {Migraine without aura, susceptibility to} 157300 P01375 {Epilepsy, idiopathic generalized, 10} 613060 O14764 Lipase deficiency, combined 246650 Q96S06 Corneal dystrophy, Fuchs endothelial, 4 613268 Q8NBS3 Corneal dystrophy, Fuchs endothelial, 6 613270 P37275 Corneal dystrophy, Fuchs endothelial, 1 136800 P25067 Hodgkin lymphoma 236000 Q8IXV7 HPRT-related gout 300323 P00492 Macular degeneration, age-related, 11 611953 P01034 D-bifunctional protein deficiency 261515 P51659 Exudative vitreoretinopathy 133780 Q9ULV1 ACAT2 deficiency 614055 Q9BWD1 {Prostate cancer, hereditary, 12} 611868 Q8NDI1 PCWH syndrome 609136 P56693 Fetal akinesia deformation sequence 208150 Q18PE1,Q13702 Optic nerve hypoplasia 165550 P26367 [Skin/hair/eye pigmentation 5, dark/fair skin] 227240 Q9UMX9 Inclusion body myopathy, autosomal recessive 600737 Q9Y223 Migraine, resistance to 157300 P25101 Aspartylglucosaminuria 208400 P20933 Adrenocorticotropic hormone deficiency 201400 O60806 Micochondrial phosphate carrier deficiency 610773 Q00325 {Sarcoidosis, susceptibility l, 1} 181000 P13760,Q5Y7A7,Q9TQE0,P20039,Q9GIY3,P01911,P01912,Q29974,P04229,P13761,Q30167,O02867,Q30134 Ectodermal dysplasia, anhidrotic, X-linked 305100 Q92838 Metachromatic leukodystrophy due to SAP-b deficiency 249900 P07602 Bronchiectasis with or without elevated sweat chloride 3 613071 P51170 {Herpes simplex encephalitis, susceptibility to, 1} 610551 Q9H1C4 {Microvascular complications of diabetes 5} 612633 P27169 Multiple mitochondrial dysfunctions syndrome 2 614299 Q53S33 Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in 211980 P00533 Atrial fibrillation, familial, 4 611493 Q9Y6J6 Esophageal cancer, somatic 133239 P37173 Alveolar soft-part sarcoma 606243 Q9BZE9 Cardiomyopathy, dilated, 1HH 613881 O95817 Bladder cancer 109800 P01116 Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 193220 O76090 Periodic fever, familial 142680 P19438 Nasopharyngeal carcinoma 607107 P04637 Short rib-polydactyly syndrome, type III 263510 Q8NCM8 Deafness, autosomal dominant 6/14/38 600965 O76024 Interleukin 1 receptor antagonist deficiency 612852 P18510 Neuropathy, hereditary sensory and autonomic, type IA 162400 O15269 Esophageal carcinoma, somatic 133239 Q9Y252 Acrodysostosis with hormone resistance 101800 P10644 Stickler syndrome, type IV 614134 P20849 Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations 116860 O00522 Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism 614381 Q9NW08 Gastric cancer 137215 P01116 Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 611773 P02462 [Hypohaptoglobinemia] 614081 P00738 Craniofacial-deafness-hand syndrome 122880 P23760 Spinal and bulbar muscular atrophy of Kennedy 313200 P10275 {Hirschsprung disease, susceptibility to, 4} 613712 P14138 Jalili syndrome 217080 Q6P4Q7 Bartter syndrome, type 3 607364 P51801 Bartter syndrome, type 2 241200 P48048 Bartter syndrome, type 1 601678 Q13621 Cardiomyopathy, dilated, 1GG 613642 P31040 Chilblain lupus 610448 Q9NSU2 Usher syndrome, type 3 276902 P58418 LCHAD deficiency 609016 P40939 {Pancreatic cancer, susceptibility to, 1} 606856 Q8WX93 Ciliary dyskinesia, primary, 6 610852 Q8N427 Sclerosteosis 2 614305 O75096 Congenital disorder of glycosylation, type IIj 613489 Q9H9E3 Nevus, epidermal 162900 P42336 Congenital disorder of glycosylation, type IIh 611182 Q96MW5 Congenital disorder of glycosylation, type IIi 613612 Q9UP83 Congenital disorder of glycosylation, type IIb 606056 Q13724 Congenital disorder of glycosylation, type IIc 266265 Q96A29 Congenital disorder of glycosylation, type IIa 212066 Q10469 Congenital disorder of glycosylation, type IIf 603585 P78382 Congenital disorder of glycosylation, type IIg 611209 Q8WTW3 Congenital disorder of glycosylation, type IId 607091 P15291 Congenital disorder of glycosylation, type IIe 608779 P83436 Nystagmus 1, congenital, X-linked 310700 Q6ZUT3 {Colorectal cancer, susceptibility to, 3} 612229 O15105 Vohwinkel syndrome with ichthyosis 604117 P23490 Spastic paraplegia 15 270700 Q68DK2 Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy 605115 P08235 VACTERL association 192350 P35453 Spastic paraplegia 10 604187 Q12840 {Colonic adenoma recurrence, reduced risk of} 114500 P11926 GM2-gangliosidosis, several forms 272800 P06865 Myotilinopathy 609200 Q9UBF9 Leukemia, megakaryoblastic, of Down syndrome 190685 P15976 Peroxisomal acyl-CoA oxidase deficiency 264470 Q15067 Cataract, autosomal recessive congenital 4 613887 Q8NHU6 Osteopathia striata with cranial sclerosis 300373 Q5JTC6 Stapes ankylosis with broad thumb and toes 184460 Q13253 Kenny-Caffey syndrome-1 244460 Q15813 Pancreatic carcinoma, somatic 260350 P01116 Cataract, autosomal recessive congenital 2 610019 Q9BQS8 Mirror-image polydactyly 135750 Q8TD10 Costello syndrome 218040 P01112 {HIV1, resistance to} 609423 P51671 Leukemia, acute myeloid 601626 P58340,Q96L73,Q99961,P55197,Q9NZN5,P49715,P36888,P10721,Q93052,P06748,P35658,Q13492,Q01196,Q9BZ95 {Intervertebral disc disease, susceptibility to} 603932 Q14055,Q14050 Spinocerebellar ataxia 35 613908 O95932 Myopathy, congenital, with fiber-type disproportion 255310 Q9NZV5,P06753 Bietti crystalline corneoretinal dystrophy 210370 Q6ZWL3 Pyruvate dehydrogenase phosphatase deficiency 608782 Q9P0J1 {Myocardial infarction, protection against} 608446 P00488 {Lupus erythematosus, systemic, susceptibility} 152700 P08637 Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay 613076 P55789 {Osteoarthritis} 612400 P43026 Bladder cancer, somatic 109800 P22607,P06400 Carnitine-acylcarnitine translocase deficiency 212138 O43772 Pigmented paravenous chorioretinal atrophy 172870 P82279 Anemia, sideroblastic, X-linked 300751 P22557 {HIV type 1, susceptibility to} 609423 Q9NNX6 Vitamin D-dependent rickets, type I 264700 O15528 Dystonia-12 128235 P13637 {Hirschsprung disease, susceptibility to, 2} 600155 P24530 {46XY sex reversal 8, modifier of} 614279 P17516 {Diabetes mellitus, insulin-dependent, susceptibility to} 601388 P16410 Albinism, brown oculocutaneous 203200 Q04671 Colorectal cancer, hereditary nonpolyposis, type 8 613244 P16422 Colorectal cancer, hereditary nonpolyposis, type 6 614331 P37173 Fetal hemoglobin quantitative trait locus 1 141749 P69891,P69892 Colorectal cancer, hereditary nonpolyposis, type 4 614337 P54278 Colorectal cancer, hereditary nonpolyposis, type 5 614350 P52701 Colorectal cancer, hereditary nonpolyposis, type 2 609310 P40692 Palmoplantar keratoderma, nonepidermolytic, focal 613000 P08779 Colorectal cancer, hereditary nonpolyposis, type 1 120435 P43246 Alpha-methylacyl-CoA racemase deficiency 614307 Q9UHK6 Cystic fibrosis 219700 P13569 Prostate cancer, hereditary 176807 P21757 Ichthyosis vulgaris 146700 P20930 Spondyloenchondrodysplasia with immune dysregulation 607944 P13686 Osteopetrosis, autosomal recessive 3, with renal tubular acidosis 259730 P00918 Thalassemias, alpha 604131 P69905 Bruck syndrome 2 609220 O00469 Prostate cancer 176807 P51587 Osteogenesis imperfecta, type X 613848 P50454 Lymphoproliferative syndrome, X-linked, 2 300635 P98170 Alzheimer disease, type 3, with spastic paraparesis and apraxia 607822 P49768 {Dyslexia, susceptibility to, 1} 127700 Q8WXU2 Prostate cancer, somatic 176807 Q99612,Q9Y6D9 Shwachman-Bodian-Diamond syndrome 260400 Q9Y3A5 Osteogenesis imperfecta, type I 166200 P02452 {Metabolic syndrome, protection against} 605552 P55157 Stargardt disease 3 600110 Q9GZR5 Alpha-2-macroglobulin deficiency 614036 P01023 {Glucocorticoid therapy, response to} 614400 Q86VQ1 Polydactyly, postaxial, types A1 and B 174200 P10071 HDL deficiency, type 2 604091 O95477 Epilepsy, nocturnal frontal lobe, 3 605375 P17787 Amytrophic lateral sclerosis 12 613435 Q96CV9 Epilepsy, nocturnal frontal lobe, 1 600513 P43681 Dysprothrombinemia 613679 P00734 Charcot-Marie-Tooth disease, axonal, type 2K 607831 Q8TB36 Glutamine deficiency, congenital 610015 P15104 Charcot-Marie-Tooth disease, axonal, type 2N 613287 P49588 Charcot-Marie-Tooth disease, axonal, type 2M 606482 P50570 Charcot-Marie-Tooth disease, axonal, type 2L 608673 Q9UJY1 Maple syrup urine disease, type Ib 248600 P21953 {Autism susceptibility 17} 613436 Q9UPX8 [High density lipoprotien cholesterol level QTL6] 610762 Q8WTV0 Maple syrup urine disease, type Ia 248600 P12694 Acromesomelic dysplasia, Maroteaux type 602875 P20594 Charcot-Marie-Tooth disease, axonal, type 2F 606595 P04792 Mandibuloacral dysplasia with type B lipodystrophy 608612 O75844 Limb-mammary syndrome 603543 Q9H3D4 Leigh syndrome due to cytochrome c oxidase deficiency 256000 Q7KZN9 Colorectal cancer 114500 Q9Y2T1,O60566,Q09472,P01111,Q15198,P04637 Epidermolysis bullosa simplex with pyloric atresia 612138 Q15149 Wolff-Parkinson-White syndrome 194200 Q9UGJ0 {Bardet-Biedl syndrome 1, modifier of} 209900 Q9H0F7 Amelogenesis imperfecta, type 3 130900 Q6ZRV2 Hypocalcemia, autosomal dominant 146200 P41180 Maple syrup urine disease, type II 248600 P11182 {Bacteremia, susceptibility to} 614383 Q9NSE2 Nijmegen breakage syndrome-like disorder 613078 Q92878 Histiocytoma, angiomatoid fibrous, somatic 612160 P16220 Pancreatitis, hereditary 167800 P07477,P00995 Brugada syndrome 7 613120 Q9NY72 Brugada syndrome 6 613119 Q9Y6H6 Brugada syndrome 5 612838 Q07699 Brugada syndrome 4 611876 Q08289 Brugada syndrome 3 611875 Q13936 Brugada syndrome 2 611777 Q8N335 Ceroid lipofuscinosis, neuronal-1, infantile 256730 P50897 Ovarian hyperstimulation syndrome 608115 P23945 Brugada syndrome 8 613123 Q9Y3Q4 Combined SAP deficiency 611721 P07602 Retinitis pigmentosa 51 613464 Q8TAM2 {Tuberculosis, protection against} 607948 P01579,P58753 Glutamate formiminotransferase deficiency 229100 O95954 {Epilepsy, childhood absence, susceptibility to, 4} 611136 P14867 Mental retardation, FRA12A type 136630 Q9P265 Legg-Calve-Perthes disease 150600 P02458 Diamond-Blackfan anemia 9 613308 P46783 Diamond-Blackfan anemia 8 612563 P62081 Haddad syndrome 209880 P50553 Heterotopia, periventricular 300049 P21333 {Breast cancer, protection against} 114480 Q14790 Ovarian cancer 167000 P35222 Autoimmune lymphoproliferative syndrome, type IIB 607271 Q14790 Diamond-Blackfan anemia 1 105650 P39019 Charcot-Marie-Tooth disease, axonal, type 20 614228 Q14204 Diamond-Blackfan anemia 7 612562 P62913 Diamond-Blackfan anemia 6 612561 P46777 Diamond-Blackfan anemia 5 612528 P18077 Diamond-Blackfan anemia 4 612527 P08708 Mental retardation, X-linked syndromic 10 300220 Q99714 Leigh syndrome due to mitochondrial complex I deficiency 256000 Q330K2,Q96CU9,O43678 Lysyl hydroxylase 3 deficiency 612394 O60568 Mental retardation, X-linked syndromic 16 305400 P98174 Emery-Dreifuss muscular dystrophy 5, autosomal dominant 612999 Q8WXH0 Campomelic dysplasia with autosomal sex reversal 114290 P48436 Corneal dystrophy, lattice type I 122200 Q15582 Sclerosteosis 269500 Q9BQB4 Lipodystrophy, familial partial, 2 151660 P02545 Coloboma, ocular 120200 P26367,Q15465 Muscular dystrophy, limb-girdle, type IC 607801 P56539 Parkinson disease, juvenile, type 2 600116 O60260 Lissencephaly, X-linked 2 300215 Q96QS3 Ataxia-telangiectasia-like disorder 604391 P49959 Long QT syndrome 13 613485 P48544 {Osteoporosis, postmenopausal, susceptibility} 166710 P30988 Follicle-stimulating hormone deficiency, isolated 229070 P01225 Hyper-IgE recurrent infection syndrome, autosomal recessive 243700 Q8NF50 Renal tubular acidosis with deafness 267300 P15313 Deafness, congenital with inner ear agenesis, microtia, and microdontia 610706 P11487 Charcot-Marie-Tooth disease, recessive intermediate, B 613641 Q15046 Charcot-Marie-Tooth disease, recessive intermediate, A 608340 Q8TB36 Fanconi anemia, complementation group P 613951 Q8IY92 [Skin/hair/eye pigmentation 3, blue/green eyes] 601800 P14679 Neurofibromatosis, type 2 101000 P35240 L-2-hydroxyglutaric aciduria 236792 Q9H9P8 Intestinal pseudoobstruction, neuronal 300048 P21333 Apparent mineralocorticoid excess 218030 P80365 Becker muscular dystrophy 300376 P11532 Fanconi anemia, complementation group J 609054 Q9BX63 Parkinson disease 1 168601 P37840 Fanconi anemia, complementation group L 614083 Q9NW38 Fanconi anemia, complementation group M 614087 Q8IYD8 Fanconi anemia, complementation group N 610832 Q86YC2 Deafness, autosomal dominant 8/12 601543 O75443 Fanconi anemia, complementation group A 227650 O15360 Fanconi anemia, complementation group B 300514 Q8NB91 Fanconi anemia, complementation group C 227645 Q00597 Ehlers-Danlos syndrome, type VIIC 225410 O95450 Ehlers-Danlos syndrome, type VIIB 130060 P08123 Ehlers-Danlos syndrome, type VIIA 130060 P02452 Fanconi anemia, complementation group G 614082 O15287 Adenylosuccinase deficiency 103050 P30566 Epileptic encephalopathy, Lennox-Gastaut type 606369 P53779 {Lumbar disc degeneration} 603932 Q9BXN1 Nakajo syndrome 256040 P28062 Rett syndrome, preserved speech variant 312750 P51608 Karak syndrome 610217 O60733 Fanconi anemia, complementation group 0 613390 O43502 Episodic ataxia, type 2 108500 O00555 Fatty liver, acute, of pregnancy 609016 P40939 Episodic ataxia, type 6 612656 P43003 Episodic ataxia, type 5 613855 O00305 Schwartz-Jampel syndrome, type 1 255800 P98160 {Autoimmune lymphoproliferative syndrome} 601859 P25445 {Obsessive-compulsive disorder, protection against} 164230 P23560 {Diabetes mellitus, transient neonatal} 601410 Q9UM63 Keratoderma, palmoplantar, with deafness 148350 P29033 Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia 218700 Q06710 Bernard-Soulier syndrome, type A1 (recessive 231200 P07359 {Breast-ovarian cancer, familial, susceptibility to, 3} 613399 O43502 C1q deficiency 613652 P02745,P02746,P02747 Nance-Horan syndrome 302350 Q6T4R5 Myopathy, lactic acidosis, and sideroblastic anemia 2 613561 Q9Y2Z4 C6 deficiency 612446 P13671 Surfactant metabolism dysfunction, pulmonary, 5 614370 P32927 Macular degeneration, age-related, 2 153800 P78363 Immunodeficiency-centromeric instability-facial anomalies syndrome-2 614069 O43167 Weill-Marchesani-like syndrome 613195 Q8TE56 Waardenburg syndrome, type 3 148820 P23760 Platelet glycoprotein IV deficiency 608404 P16671 Hypoproteinemia, hypercatabolic 241600 P61769 Macular degeneration, age-related, 6 613757 Q96IS3 Aicardi-Goutieres syndrome 1, dominant and recessive 225750 Q9NSU2 Ceroid-lipofuscinosis, neuronal-4A, adult onset 204300 Q9NWW5 Polycystic kidney disease 2 613095 Q13563 Joubert syndrome 10 300804 O75665 Joubert syndrome 12 200990 Q2M1P5 Joubert syndrome 13 614173 Q2MV58 Anemia, sideroblastic, with ataxia 301310 O75027 {Cardiac conduction defect, susceptibility to} 115080 O43572 {Celiac disease, susceptibility to, 4} 609753 Q13459 Usher syndrome, type 1B 276900 Q13402 Arterial calcification, generalized, of infancy 208000 P22413 Cousin syndrome 260660 Q96SF7 Leukemia, acute myeloid, somatic 601626 P41212 Usher syndrome, type 1G 606943 Q495M9 Donnai-Barrow syndrome 222448 P98164 {Encephalopathy, acute, infection-induced, 3, susceptibility to} 608033 P49792 Cerebellar ataxia 604290 P00450 Proguanil poor metabolizer 609535 P33261 {Systemic lupus erythematosus, susceptibility to, 1} 601744 O60602 Hypercalcemia, infantile 143880 Q07973 Retinitis pigmentosa 4, autosomal dominant or recessive 613731 P08100 Glaucoma 1A, primary open angle, juvenile-onset 137750 Q99972 Epidermolysis bullosa pruriginosa 604129 Q02388 {Dermatitis, atopic, susceptibility to, 2} 605803 P20930 {Melanoma, cutaneous malignant, 3} 609048 P11802 CATSHL syndrome 610474 P22607 Tourette syndrome 137580 Q96PX8 Mucolipidosis II alpha/beta 252500 Q3T906 Propionicacidemia 606054 P05165,P05166 Nemaline myopathy 7 610687 Q9Y281 Cerebral cavernous malformations 3 603285 Q9BUL8 Recombination rate QTL 1 612042 Q495C1 [Blood group Cromer] 613793 P08174 Failure of tooth eruption, primary 125350 Q03431 Laryngoonychocutaneous syndrome 245660 Q16787 Focal cortical dysplasia, Taylor balloon cell type 607341 Q92574 Progressive familial heart block, type IB 604559 Q8TD43 Spermatogenic failure 8 613957 Q13285 Tropical calcific pancreatitis 608189 P00995 Febrile seizures, familial, 3B 613863 Q15858 Ciliary dyskinesia, primary, 1, with or without situs inversus 244400 Q9UI46 Mental retardation, with or without nystagmus 300749 O14936 Thrombocytopenia 2 188000 Q9UPS8 Schindler disease, type III 609241 P17050 {Epilepsy, idiopathic generalized, susceptibility to} 600669 P23368 Thrombocytopenia 4 612004 P99999 Ehlers-Danlos syndrome, musculocontractural type 601776 Q8NCH0 [Anhaptoglobinemia] 614081 P00738 Cone dystrophy 4 613093 P51160 {Autism suseptibility 9} 611015 P08581 Adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism 300200 P51843 Spermatogenic failure 7 612997 Q8NEC5 {Diabetes mellitus, type II, susceptibility to} 125853 P52945 Nail disorder, nonsyndromic congenital, 10, (claw-shaped nails 614157 O60353 Cardiac valvular dysplasia, X-linked 314400 P21333 {Dyslexia, susceptibility to, 2} 600202 Q5VV43 {Thrombophilia, susceptibility to, due to activated protein C resistance} 188055 P12259 Refsum disease, infantile 266510 O43933,Q7Z412,P28328 Infantile neuroaxonal dystrophy 1 256600 O60733 Hay-Wells syndrome 106260 Q9H3D4 Knobloch syndrome, type 1 267750 P39060 Fraser syndrome 219000 Q86XX4,Q5SZK8 Aromatase deficiency 613546 P11511 Retinitis pigmentosa 43 613810 P16499 Loeys-Dietz syndrome 1C 613795 P84022 Exudative vitreoretinopathy, X-linked 305390 Q00604 Corneal dystrophy, Groenouw type I 121900 Q15582 Fanconi-Bickel syndrome 227810 P11168 {Retinal disease in Usher syndrome type IIA, modifier of} 276901 Q9H5P4 {Alzheimer disease, pathogenesis, association with} 104300 Q92673 Mitochondrial complex III deficiency 124000 Q9Y276,Q6DKK2,P14927,O14949 {Leprosy, protection against} 613223 Q15399 {Osteoporosis, postmenopausal} 166710 P08123 Cataract, posterior polar, 4 610623 O75364 {Psoriasis susceptibility 13} 614070 O43734 Amyotrophic lateral sclerosis, due to SOD1 deficiency 105400 P00441 Hemorrhagic destruction of the brain, subependymal calcification, and cataracts 613730 Q9BX67 Obesity, mild, early-onset 601665 Q15466 Dementia, familial, nonspecific 600795 Q9UQN3 {Graft-versus-host disease, protection against} 614395 P22301 Glycogen storage disease 0, muscle 611556 P13807 Mental retardation, autosomal dominant 9 614255 Q12756 Cataract, posterior polar, 3 605387 Q9H444 [Premature chromatid separation trait] 176430 O60566 Ventricular tachycardia, catecholaminergic polymorphic, 2 611938 O14958 Methemoglobinemia, type I 250800 P00387 Microcephaly, postnatal progressive, with seizures and brain atrophy 613668 Q9NVC6 Ceroid-lipofuscinosis, neuronal-6, late infantile onset 601780 Q9NWW5 Cataract, posterior polar, 1 116600 P29317 {Epilepsy, childhood absence, susceptibility to, 5} 612269 P28472 Ichthyosiform erythroderma, congenital, nonbullous, 1 242100 O75342,Q9BYJ1 [Malaria, resistance to] 611162 P02730 [Blood group, Landsteiner-Wiener] 111250 Q14773 Woodhouse-Sakati syndrome 241080 Q5H9S7 Hyperalphalipoproteinemia 143470 P11597 {Neural tube defects, susceptibility to} 182940 O15178,P42898 {Prostate cancer, susceptibility to} 176807 P27701,P10275,P12830,Q9BQ52,P50539,Q15911 Brachydactyly, type B1 113000 Q01974 Fanconi anemia, complementation group I 609053 Q9NVI1 Brachydactyly, type B2 611377 Q13253 {Autism susceptibility, X-linked 3} 300496 P51608 {Lung cancer, protection against} 211980 Q14790 Anemia, dyserythropoietic congenital, type II 224100 Q15437 Osteolysis, familial expansile 174810 Q9Y6Q6 {Oculocutaneous albinism, type II, modifier of} 203200 Q01726 Lymphedema, hereditary I 153100 P35916 {Epilepsy, idiopathic generalized, susceptibility to, 9} 607682 O00305 Hereditary persistence of fetal hemoglobin 141749 P68871 Stickler syndrome, type II 604841 P12107 Epidermolysis bullosa, junctional, non-Herlitz type 226650 Q9UMD9,P16144,Q13751,Q13753 McLeod syndrome with or without chronic granulomatous disease 300842 P51811 {Obesity, susceptibility to} 601665 P07550,P13945,Q16568,P22413,Q9UBU3,P25874 Mental retardation, X-linked, Snyder-Robinson type 309583 P52788 Anemia, dyserythropoietic congenital, type IV 613673 Q13351 Hypophosphatemic rickets, autosomal dominant 193100 Q9GZV9 Cataract, congenital, cerulean type, 3 608983 P07320 Macrocephaly, alopecia, cutis laxa, and scoliosis 613075 Q8WYP3 Chanarin-Dorfman syndrome 275630 Q8WTS1 Familial Mediterranean fever, AD 134610 O15553 Weyers acrodental dysostosis 193530 P57679 Pelizaeus-Merzbacher disease 312080 P60201 Ewing sarcoma 612219 Q01844 Ectodermal dysplasia, anhidrotic, autosomal recessive 224900 Q8WWZ3 Agenesis of the corpus callosum with peripheral neuropathy 218000 Q9UHW9 [Hair morphology 1, hair thickness] 612630 Q9UNE0 {End-stage renal disease, nondiabetic, susceptibility to} 612551 O14791 Fibrosis of extraocular muscles, congenital, 2 602078 O14813 Familial Mediterranean fever, AR 249100 O15553 Fibrosis of extraocular muscles, congenital, 1 135700 Q7Z4S6 Cone-rod dystrophy 9 612775 Q13443 Meckel syndrome type 4 611134 O15078 Cone-rod dystrophy 3 604116 P78363 Glycerol kinase deficiency 307030 P32189 {Diabetes, mellitus, insulin-dependent, susceptibility to, 10} 601942 P01589 Cone-rod dystrophy 7 603649 Q86UR5 Cone-rod dystrophy 6 601777 Q02846 DiGeorge syndrome 188400 O43435 Porphyria, congenital erythropoietic 263700 P10746 Multiple sulfatase deficiency 272200 Q8NBK3 Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis 308990 P51795 Corticosteroid-binding globulin deficiency 611489 P08185 Hyperparathyroidism, neonatal 239200 P41180 Neuropathy, distal hereditary motor, type IIA 158590 Q9UJY1 Paget disease of bone 602080 Q13501,Q9Y6Q6 Hyperlysinemia 238700 Q9UDR5 Fragile X tremor/ataxia syndrome 300623 Q06787 Pigmented hypertrophic dermatosis with insulin-dependent diabetes 612391 Q9BZD2 Revesz syndrome 268130 Q9BSI4 Johanson-Blizzard syndrome 243800 Q8IWV7 {Vitiligo-associated multiple autoimmune disease susceptibility 1} 606579 Q9C000 Deafness, autosomal dominant 20/26 604717 P63261 Gillespie syndrome 206700 P26367 Febrile seizures, familial, 3A 604403 P35498 Clubfoot, congenital 119800 P78337 [Skin/hair/eye pigmentation 4, fair/dark skin] 113750 Q71RS6 GRACILE syndrome 603358 Q9Y276 Ceroid-lipofuscinosis, neuronal-3, juvenile 204200 Q13286 Adenomas, salivary gland pleomorphic 181030 Q6DJT9 Acrodermatitis enteropathica 201100 Q6P5W5 Combined cellular and humoral immune defects with granulomas 233650 P15918,P55895 [Skin/hair/eye pigmentation 6, blond/brown hair] 210750 Q8NFF2 Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome 614132 Q9UM00 Hypotrichosis, hereditary, Marie Unna type, 1 146550 O43593 Lissencephaly 1 607432 P43034 Hirschsprung disease, cardiac defects, and autonomic dysfunction 613870 P42892 Lissencephaly 3 611603 Q71U36 Epilepsy, partial, with auditory features 600512 O95970 Lysinuric protein intolerance 222700 Q9UM01 Parkinson disease 6, early onset 605909 Q9BXM7 Niemann-Pick disease, type B 607616 P17405 Alzheimer disease, type 3 607822 P49768 {Chronic infections, due to MBL deficiency} 614372 P11226 Niemann-Pick disease, type A 257200 P17405 Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE 607459 P54098 Niemann-Pick disease, type D 257220 O15118 Neutrophil immunodeficiency syndrome 608203 P15153 Tangier disease 205400 O95477 Coffin-Lowry syndrome 303600 P51812 Leigh syndrome, French-Canadian type 220111 P42704 Holocarboxylase synthetase deficiency 253270 P50747 COPD, rate of decline of lung function in 606963 P03956 OKT4 epitope deficiency 613949 P01730 Brittle cornea syndrome 229200 Q96JG9 Hydrolethalus syndrome 2 614120 Q2M1P5 Heterotaxy, visceral, 2, autosomal 605376 P0CG37 Dentatorubro-pallidoluysian atrophy 125370 P54259 Waardenburg syndrome/ocular albinism, digenic 103470 O75030 Pierson syndrome 609049 P55268 Blood group--Lutheran inhibitor 111150 Q13351 Delta-beta thalassemia 141749 P68871 Pfeiffer syndrome 101600 P11362,P21802 Bernard-Soulier syndrome, type A2 (dominant 153670 P07359 EBD inversa 226600 Q02388 Diastrophic dysplasia 222600 P50443 Atopy 147050 Q9NQ38 Endocrine-cerebroosteodysplasia 612651 Q9UPZ9 Dyskeratosis congenita, autosomal recessive 1 224230 Q9NPE3 Dyskeratosis congenita, autosomal recessive 2 613987 Q9NX24 Dyskeratosis congenita, autosomal recessive 3 613988 Q9BUR4 Dyskeratosis congenita, autosomal recessive 4 613989 O14746 Double-outlet right ventricle 217095 P0CG37,P27539 Parkinson disease 15, autosomal recessive 260300 Q9Y3I1 Progressive external ophthalmoplegia, autosomal recessive 258450 P54098 Saethre-Chotzen syndrome 101400 P21802,Q15672 GLUT1 deficiency syndrome 1 606777 P11166 GLUT1 deficiency syndrome 2 612126 P11166 Surfactant metabolism dysfunction, pulmonary, 3 610921 Q99758 Surfactant metabolism dysfunction, pulmonary, 4 300770 P15509 Steatocystoma multiplex 184500 Q04695 {AIDS, slow progression to} 609423 P25024,P24394 {Melanoma, cutaneous malignant, 2} 155601 Q8N726,P42771 [Blood group, Lutheran null] 247420 P50895 Spastic paraplegia-5A 270800 O75881 Klippel-Feil syndrome 1, autosomal dominant 118100 Q6KF10 {Cirrhosis, noncryptogenic, susceptibility to} 215600 P05783,P05787 Carboxypeptidase N deficiency 212070 P15169 Arthrogryposis, renal dysfunction, and cholestasis 1 208085 Q9H267 Arthrogryposis, renal dysfunction, and cholestasis 2 613404 Q9H9C1 {Systemic lupus erythematosus, susceptibility} 152700 P48023 Macular dystrophy, patterned 169150 P23942 Mental retardation, X-linked 19 300844 P51812 Urofacial syndrome 236730 Q8WWQ2 Aplasia of lacrimal and salivary glands 180920 O15520 Myoclonic epilepsy, infantile, familial 605021 Q9ULP9 Hemochromatosis 235200 Q30201 Nephrolithiasis, type I 310468 P51795 Ceroid-lipofuscinosis, neuronal 2, classic late infantile 204500 O14773 Jensen syndrome 311150 O60220 van Buchem disease, type 2 607636 O75197 Leukemia, acute myelogenous 601626 P49915,O60674 [Skin/hair/eye pigmentation 1, blue/nonblue eyes] 227220 O95714,Q04671 Spondylocostal dysostosis 4, autosomal recessive 613686 Q9BYE0 Rippling muscle disease 606072 P56539 Optic nerve hypoplasia and abnormalities of the central nervous system 206900 P48431 {Lung cancer, susceptibility to} 211980 Q03468 Mandibuloacral dysplasia 248370 P02545 Gastric cancer, familial diffuse, with or without cleft lip and/or palate 137215 P12830 Galactosialidosis 256540 P10619 Werner syndrome 277700 Q14191 Sialidosis, type II 256550 Q99519 Intrinsic factor deficiency 261000 P27352 [Phenylthiocarbamide tasting] 171200 P59533 Machado-Joseph disease 109150 P54252 Dementia, familial Danish 117300 Q9Y287 {Obesity, association with} 601665 O75056 Testicular tumor, sporadic 273300 Q15831 Inflammatory skin and bowel disease, neonatal 614328 P78536 Lymphoproliferative syndrome, X-linked 308240 O60880 Fechtner syndrome 153640 P35579 Porphyria, acute hepatic 612740 P13716 Alzheimer disease-2 104310 P02649 Wilms tumor, type 1 194070 P19544 Alzheimer disease-4 606889 P49810 {Rheumatoid arthritis, systemic juvenile} 604302 P05231 [White blood cell count QTL] 611862 Q16570 Porphyria, acute intermittent 176000 P08397 Bile acid malabsorption, primary 613291 Q12908 Sebastian syndrome 605249 P35579 Cardiomyopathy, dilated, 2A 611880 P19429 Keutel syndrome 245150 P08493 Periodontitis, juvenile 170650 P53634 Thyroid papillary carcinoma 188550 Q16204 HMG-CoA lyase deficiency 246450 P35914 {Psoriatic arthritis, susceptibility to} 607507 P01374,Q9HC29 Nephropathy with pretibial epidermolysis bullosa and deafness 609057 P48509 Mental retardation, X-linked 17/31, microduplication 300705 Q99714 Renal cell carcinoma, somatic 144700 P40337 [IgE levels QTL] 147050 Q9UIL8 [Blood group, Duffy system] 110700 Q16570 Heterotaxy, visceral, 4, autosomal 613751 Q13705 Pitt-Hopkins syndrome 610954 P15884 Mucopolysaccharidosis VII 253220 P08236 Renal cysts and diabetes syndrome 137920 P35680 {Neuroblastoma, susceptibility to, 1} 256700 O60333 Methylmalonic aciduria, cblD type, variant 2 277410 Q9H3L0 SBBYSS syndrome 603736 Q8WYB5 [Blood group, Kidd] 111000 Q13336 Troyer syndrome 275900 Q8N0X7 [Blood group GIL] 607457 Q92482 Parkinsonism-dystonia, infantile 613135 Q01959 Senior-Loken syndrome 6 610189 O15078 Senior-Loken syndrome 4 606996 O75161 Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis 613845 Q9NP81 Isobutyryl-CoA dehydrogenase deficiency 611283 Q9UKU7 Pitt-Hopkins-like syndrome 2 614325 Q9ULB1,P58400 Long QT syndrome-11 611820 Q99996 Glucocorticoid deficiency, due to ACTH unresponsiveness 202200 Q01718 Renpenning syndrome 309500 O60828 3-Methylcrotonyl-CoA carboxylase 2 deficiency 210210 Q9HCC0 Cholestasis, familial intrahepatic, of pregnancy 147480 P21439 Hyperthyroidism, nonautoimmune 609152 P16473 Metaphyseal anadysplasia 2 613073 P14780 Metaphyseal anadysplasia 1 602111 P45452 {Prostate cancer, progression of} 176807 O00291 Bohring-Opitz syndrome 605039 Q8IXJ9 C syndrome 211750 P40200 Bart-Pumphrey syndrome 149200 P29033 {Unipolar depression, susceptibility to} 608516 Q8IWU9 [Blood pressure regulation QTL] 145500 P05026,O15539,P16581 {Hypertension, essential, salt-sensitive} 145500 P35611 {Schizophrenia, susceptibility to, 17} 614332 Q9ULB1,P58400 [Birbeck granule deficiency] 613393 Q9UJ71 Corneal dystrophy polymorphous posterior, 2 609140 P25067 Mental retardation, X-linked 89 300848 P51814 Dicarboxylicaminoaciduria 222730 P43005 {Obsessive-compulsive disorder, susceptibility to} 164230 P28223 Hyalinosis, infantile systemic 236490 P58335 Spastic paraplegia 39 612020 Q8IY17 Stiff skin syndrome 184900 P35555 Cavernous malformations of CNS and retina 116860 O00522 Foveal hyperplasia 136520 P26367 Spastic paraplegia 33 610244 Q5T4F4 Ellis-van Creveld syndrome 225500 P57679,Q86UK5 Spastic paraplegia 31 610250 Q9H902 {Nicotine addiction, protection from} 188890 P11509 [Earwax, wet/dry] 117800 Q96J66 Ichthyosiform erythroderma, congenital 242100 P22735 Epidermolysis bullosa simplex with migratory circinate erythema 609352 P13647 Microphthalmia with cataract 2 212550 O95475 Mental retardation, autosomal dominant 8 614254 Q05586 {Asthma, nocturnal, susceptibility to} 600807 P07550 Spondyloepiphyseal dysplasia with congenital joint dislocations 143095 Q7LGC8 Phosphoribosylpyrophosphate synthetase superactivity 300661 P60891 Liddle syndrome 177200 P51168,P51170 Zellweger syndrome, complementation group G 214100 P56589 Mental retardation, X-linked 30/47 300558 O75914 Roberts syndrome 268300 Q56NI9 Hypospadias 1, X-linked 300633 P10275 {Diabetes mellitus, type I, susceptibility to} 222100 Q9BZS1 {Major depressive disorder and accelerated response to antidepressant drug treatment} 608516 Q13451 Bare lymphocyte syndrome, type II, complementation group C 209920 P48382 Bare lymphocyte syndrome, type II, complementation group A 209920 P33076 Deafness, autosomal recessive 9 601071 Q9HC10 Liver failure, transient infantile 613070 O75648 Bare lymphocyte syndrome, type II, complementation group E 209920 P48382 Bare lymphocyte syndrome, type II, complementation group D 209920 O00287 Deafness, autosomal recessive 2 600060 Q13402 Deafness, autosomal recessive 3 600316 Q9UKN7 Deafness, autosomal recessive 6 600971 Q8NEW7 Deafness, autosomal recessive 7 600974 Q8TDI8 Osteogenesis imperfecta, type III 259420 P08123 Mental retardation, autosomal dominant 1 156200 Q9P267 Mitochondrial DNA depletion syndrome 3 (hepatocerebral type 251880 Q16854 Ectodermal dysplasia, anhidrotic, autosomal dominant 129490 Q8WWZ3 Surfactant metabolism dysfunction, pulmonary, 1 265120 P07988 Porphyria, acute intermittent, nonerythroid variant 176000 P08397 Retinitis pigmentosa, concentric 613194 O76090 Hyper-IgD syndrome 260920 Q03426 Surfactant metabolism dysfunction, pulmonary, 2 610913 P11686 Oculodentodigital dysplasia 164200 P17302 Cortical malformations, occipital 614115 Q9Y6N6 {Hemolytic uremic syndrome, atypical, susceptibility to, 1} 235400 P08603 Adult i phenotype without cataract 110800 Q06430,Q8N0V5,Q8NFS9 Left ventricular noncompaction, X-linked 300183 Q16635 Dyschromatosis symmetrica hereditaria 127400 P55265 Aromatase excess syndrome 139300 P11511 Spinocerebellar ataxia, autosomal recessive 11 614229 Q8NB59 Bothnia retinal dystrophy 607475 P12271 Thalassemia-beta, dominant inclusion-body 603902 P68871 Beta-ureidopropionase deficiency 613161 Q9UBR1 Schwannomatosis 162091 P35240 Polycystic kidney and hepatic disease 263200 P08F94 {Hypersensitivity syndrome, carbamazepine-induced, susceptibility to} 608579 P30457,P30450,Q09160,P05534,P30456,P30453,P10314,P30512,P18462,P16188,P30459,P10316,P01891,P01893,P16189,P01892,P04439,P30447,P13746,P30455,P16190,P30443 Myasthenic syndrome, slow-channel congenital 601462 P02708,P11230,Q07001,Q04844 Squamous cell carcinoma, head and neck 275355 Q9UK53,O14763 C9 deficiency 613825 P02748 Capillary malformation-arteriovenous malformation 608354 P20936 Warburg micro syndrome 1 600118 Q15042 Warburg micro syndrome 3 614222 Q9NP72 Aminoacylase 1 deficiency 609924 Q03154 Night blindness, congenital stationary, type 2B 610427 P57796 {Asthma-related traits, susceptibility to, 7} 611960 P36222 Pulmonary hypertension, primary 178600 O15198 Multiple endocrine neoplasia 1 131100 O00255 Leukemia, megakaryoblastic, with or without Down syndrome 190685 P15976 Parkinson disease 14 612953 O60733 {Psoriasis susceptibility 1} 177900 Q29963,Q95604,P30499,P30508,P30501,Q07000,Q29865,Q29960,Q9TNN7,P30504,P10321,P30510,P04222,P30505 Hypoprothrombinemia 613679 P00734 Hypercholesterolemia, familial, autosomal recessive 603813 Q5SW96 REtinitis pigmentosa 62 614181 P20794 Parietal foramina 2 609597 Q9H161 Pendred syndrome 274600 O43511 Porencephaly 175780 P02462 LADD syndrome 149730 O15520,P21802,P22607 Homocystinuria, cblD type, variant 1 277410 Q9H3L0 Tetralogy of Fallot 187500 P27539,P78504,Q8WW38 Hypotrichosis, localized, autosomal recessive 607903 Q86SJ6 Atelosteogenesis II 256050 P50443 Invasive pneumococcal disease, recurrent isolated, 2 300640 Q9Y6K9 Cohen syndrome 216550 Q7Z7G8 Oligodontia-colorectal cancer syndrome 608615 Q9Y2T1 {Myocardial infarction, susceptibility to} 608446 P03372,P48506,P48507,P05106,P05162,Q14114,P01374,P78380,P07204,P23510 Brachydactyly, type A1 112500 Q14623 Brachydactyly, type A2 112600 P12643,O00238,P43026 {HIV-1, resistance to} 609423 P13500 Dent disease 300009 P51795 Maturity-onset diabetes of the young, type 10 613370 P01308 Cardiofaciocutaneous syndrome 115150 P15056,P01116,Q02750,P36507 Thalassemias, beta 613985 P68871 Rett syndrome 312750 P51608 Vitreoretinochoroidopathy 193220 O76090 Friedreich ataxia with retained reflexes 229300 Q16595 {Diabetes mellitus, noninsulin-dependent, association with} 125853 O76024 Lethal congenital contractural syndrome 2 607598 P21860 Chondrodysplasia punctata, X-linked recessive 302950 P51690 Choroid plexus papilloma 260500 P04637 Macrothrombocytopenia 300367 P15976 Trehalase deficiency 612119 O43280 Occipital horn syndrome 304150 Q04656 {Bladder cancer susceptibility} 109800 Q9Y6A5 Myopathy with lactic acidosis, hereditary 255125 Q9H1K1 Leigh syndrome, X-linked 308930 P08559 Paragangliomas 1, with or without deafness 168000 O14521 Chronic granulomatous disease, X-linked 306400 P04839 Simpson-Golabi-Behmel syndrome, type 1 312870 P51654 Pentosuria 260800 Q7Z4W1 Hypothryoidism, congenital, nongoitrous 4 275100 P01222 Symphalangism, proximal 185800 P43026,Q13253 Myopathy, desmin-related, cardioskeletal 601419 P17661 {Long QT syndrome-2, acquired, susceptibility to} 613688 Q12809 {Autism susceptibility, X-linked 2} 300495 Q8N0W4 Branchiootorenal syndrome 113650 Q99502 Hyperchylomicronemia, late-onset 144650 Q6Q788 Hepatocellular carcinoma, somatic 114550 O15169,Q14790,P42336 {HIV-1, susceptibility to} 609423 P22301 Brittle cornea syndrome 2 614170 Q9NQX1 {Lead poisoning, susceptibility to} 612740 P13716 Osteogenesis imperfecta, type II 166210 P08123 {Melanoma, cutaneous malignant, 5} 613099 Q01726 {Myoclonic epilepsy, juvenile, susceptibility to, 1} 254770 Q5JVL4 Ovarioleukodystrophy 603896 P49770,Q9UI10,Q13144 Dyserythropoietic anemia with thrombocytopenia 300367 P15976 Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis 607626 O95832 Night blindness, congenital stationary, type 1B 257270 O15303 Night blindness, congenital stationary, type 1C 613216 Q7Z4N2 Night blindness, congenital stationary, type 1A 310500 Q9GZU5 Osteogenesis imperfecta, type IX 259440 P23284 Spinocerebellar ataxia 2 183090 Q99700 {Pulmonary hypertension, familial persistent, of the newborn} 265380 P31327 Leydig cell hypoplasia with pseudohermaphroditism 238320 P22888 Krabbe disease, atypical 611722 P07602 Exostoses, multiple, type 1 133700 Q16394 Mast syndrome 248900 Q9NZD8 Amish infantile epilepsy syndrome 609056 Q9UNP4 Caffey disease 114000 P02452 Meacham syndrome 608978 P19544 {Aplastic anemia, susceptibility to} 609135 O14746 {Opioid dependence, susceptibility to} 610064 P23368 {Venous thromboembolism, susceptibility to} 188050 Q14520 Hypomagnesemia 4, renal 611718 P01133 {Panic disorder, susceptibility to} 167870 P21964 [Blood group, Kell] 110900 P23276 Contractural arachnodactyly, congenital 121050 P35556 Breast cancer, invasive ductal 114480 Q92698 Escobar syndrome 265000 P07510 Parastremmatic dwarfism 168400 Q9HBA0 Cardiomyopathy, dilated, 3A 300069 Q16635 Cardiomyopathy, dilated, 3B 302045 P11532 Gout, PRPS-related 300661 P60891 {Leprosy, susceptibility to, 4} 610988 P01374 Muscular dystrophy, limb-girdle, type 2D 608099 Q16586 Muscular dystrophy, limb-girdle, type 2E 604286 Q16585 Muscular dystrophy, limb-girdle, type 2F 601287 Q92629 Muscular dystrophy, limb-girdle, type 2G 601954 O15273 Muscular dystrophy, limb-girdle, type 2A 253600 P20807 Muscular dystrophy, limb-girdle, type 2B 253601 O75923 Muscular dystrophy, limb-girdle, type 2C 253700 Q13326 Muscular dystrophy, limb-girdle, type 2L 611307 Q75V66 Inclusion body myopathy-3 605637 Q9UKX2 Kallmann syndrome 3 244200 Q8NFJ6 Kallmann syndrome 4 610628 Q9HC23 Kallmann syndrome 5 612370 Q9P2D1 Kallmann syndrome 6 612702 P55075 Mucopolysaccharidosis type VI (Maroteaux-Lamy 253200 P15848 Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency 300301 Q9Y6K9 {Fibrocalculous pancreatic diabetes, susceptibility to} 608189 P00995 Pycnodysostosis 265800 P43235 Hyperchlorhidrosis, isolated 143860 O43570 Mitochondrial DNA depletion syndrome 8B (MNGIE type 612075 Q7LG56 Rapp-Hodgkin syndrome 129400 Q9H3D4 Renal agenesis 191830 P07949 [Blood group, Swann] 601550 P02730 {Wilms tumor susceptibility-5} 601583 P78424 Diabetes mellitus, neonatal, with congenital hypothyroidism 610199 Q8NEA6 EBD, Bart type 132000 Q02388 {Diabetes, susceptibility to}, , 125853} 222100 P05231 {Deafness, mitochondrial, modifier of} 580000 O75648 Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive 608971 P04234,P07766,P08575 Dystonia 16 612067 O75569 Polymicrogyria with optic nerve hypoplasia 613180 Q9NY65 {Delayed sleep phase syndrome, susceptibility to} 614163 Q16613 Rieger or Axenfeld anomalies 602482 Q12948 Growth hormone insensitivity with immunodeficiency 245590 P51692 Adenosine deaminase deficiency, partial 102700 P00813 Heterotaxy, visceral, 1, X-linked 306955 O60481 Polymicrogyria, bilateral frontoparietal 606854 Q9Y653 {Pancreatitis, chronic, susceptibility to} 167800 Q99895 Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency 614172 P23769 Hypercholesterolemia, due to ligand-defective apo B 144010 P04114 Scaphocephaly, maxillary retrusion, and mental retardation 609579 P21802 Hypothyroidism, congenital, nongoitrous, 1 275200 P16473 {Pulmonary disease, chronic obstructive, susceptibility to} 606963 P01009,P09601 Cryptorchidism, bilateral 219050 Q8WXD0 Fucosyltransferase 6 deficiency 613852 P51993 Schizensephaly 269160 O95343 McArdle disease 232600 P11217 Migraine, familial hemiplegic, 2 602481 P50993 Migraine, familial hemiplegic, 3 609634 P35498 Leiomyoma, uterine, somatic 150699 P52926 Xeroderma pigmentosum, group E, DDB-negative subtype 278740 Q92466 {Lymphoma, follicular, somatic} 613024 O95999 Adrenoleukodystrophy, neonatal 202370 O43933,O60683,Q92968,Q7Z412,P50542 {Macular degeneration, age-related, reduced risk of} 603075 P06681,P00751,Q03591,Q02985 Retinitis pigmentosa 47 613758 P10523 Retinitis pigmentosa 11 600138 Q8WWY3 Myopathy, myofibrillar, BAG3-related 612954 O95817 Tetrology of Fallot 187500 P52952 [Blood group, Raph] 179620 P48509 Zellweger syndrome-1 214100 O43933 Immunodeficiency due to ficolin 3 deficiency 613860 O75636 Retinitis pigmentosa 17 600852 P22748 Cone-rod dystrophy, X-linked, 3 300476 O60840 Farber lipogranulomatosis 228000 Q13510 Muscular dystrophy, rigid spine, 1 602771 Q9NZV5 GM2-gangliosidosis, AB variant 272750 P17900 Camptodactyly-arthropathy-coxa vara-pericarditis syndrome 208250 Q92954 C4a deficiency 614380 P0C0L4 Mucopolysaccharidosis type IIIB (Sanfilippo B 252920 P54802 {Essential tremor, susceptibility to} 190300 P35462 Hand-foot-uterus syndrome 140000 P31271 Jervell and Lange-Nielsen syndrome 2 612347 P15382 Melorheostosis with osteopoikilosis 155950 Q9Y2U8 Retinitis pigmentosa, juvenile 613341 O95237 Multiple endocrine neoplasia, type IV 610755 P46527 Loeys-Dietz syndrome, type 2A 608967 P36897 {Spinal muscular atrophy, type III, modifier of} 253400 Q16637 CRASH syndrome 303350 P32004 Seizures, benign neonatal, 1 121200 O43526 Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy 612075 Q7LG56 Dyskeratosis congenita, X-linked 305000 O60832 Enhanced S-cone syndrome 268100 Q9Y5X4 Chondrosarcoma 215300 Q16394 Kallmann syndrome 308700 P23352 Birk-Barel mental retardation dysmorphism syndrome 612292 Q9NPC2 Atrioventricular septal defect, partial, with heterotaxy syndrome 606217 Q96HD1 Macrocephaly, macrosomia, facial dysmorphism syndrome 614192 Q8IUD6 Meckel syndrome, type 8 613885 Q96GX1 Pseudohypoparathyroidism Ib 603233 P84996,P63092,Q5JWF2,O95467 Meckel syndrome, type 6 612284 Q9P2K1 Cutis laxa, marfanoid neonatal type 614100 P07942 Ataxia-ocular apraxia-2 606002 Q7Z333 Meckel syndrome, type 3 607361 Q5HYA8 Meckel syndrome, type 2 603194 Q9P0N5 Meckel syndrome, type 1 249000 Q9NXB0 {Rheumatoid arthritis, systemic juvenile, susceptibility to} 604302 P14174 Chondrodysplasia with joint dislocations, GRAPP type 614078 Q9NX62 {Celiac disease, susceptibility to} 212750 P01909,P01920 Osteogenesis imperfecta, type XI 613849 Q8TDD2 Spondylocostal dysostosis, autosomal recessive 2 608681 Q0VG99 Dystonia-11, myoclonic 159900 O43556 {Breast cancer susceptibility to} 114480 O43542 Sensorineural deafness with mild renal dysfunction 602522 Q8WZ55 {Hemolytic uremic syndrome, atypical, susceptibility to, 2} 612922 P15529 Nephrolithiasis/osteoporosis, hypophosphatemic, 2 612287 O14745 Hypomyelination, global cerebral 612949 O75746 {Leukemia, acute myeloid} 601626 Q9UKJ5 Muscle hypertrophy 614160 O14793 Sick sinus syndrome 2 163800 Q9Y3Q4 Small fiber neuropathy 133020 Q15858 {Hypercholesterolemia, familial, due to LDLR defect, modifier of} 143890 P34913 Lowe syndrome 309000 Q01968 Chondrodysplasia punctata, rhizomelic, type 2 222765 O15228 {Asthma, aspirin-induced, susceptibility to} 208550 P43116,Q9UL17 {Multiple myeloma, resistance to} 254500 P49917 Spinocerebellar ataxia 5 600224 O15020 Spinocerebellar ataxia 6 183086 O00555 Spinocerebellar ataxia 7 164500 O15265 Spinocerebellar ataxia 1 164400 P54253 Mental retardation, autosomal recessive, 6 611092 Q13002 Chondrosarcoma, extraskeletal myxoid 612237 Q92804,Q92734,Q92570 Spastic paraplegia 35, autosomal recessive 612319 Q7L5A8 Spinocerebellar ataxia 8 608768 Q156A1 Luteinizing hormone resistance, female 238320 P22888 Spinal muscular atrophy-2 253550 Q16637 Maturity-onset diabetes of the young, type VIII 609812 P19835 [Chitotriosidase deficiency] 614122 Q13231 Spinal muscular atrophy-3 253400 Q16637 [Blood group, Lutheran system] 111200 P50895 Epilepsy, generalized, with febrile seizures plus, type 7 613863 Q15858 Ehlers-Danlos syndrome, type II 130010 P20908 Epilepsy, generalized, with febrile seizures plus, type 3 611277 P18507 Epilepsy, generalized, with febrile seizures plus, type 2 604403 P35498 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3 613151 Q8WZA1 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 613156 Q9UKY4 Mental retardation, X-linked, syndromic, Claes-Jensen type 300534 P41229 Multiple congenital anomalies-hypotonia-seizures syndrome 614080 O95427 Adrenal cortical carcinoma 202300 P04637 Griscelli syndrome, type 3 609227 Q9BV36 Griscelli syndrome, type 2 607624 P51159 Griscelli syndrome, type 1 214450 Q9Y4I1 Hyperoxaluria, primary, type III 613616 Q86XE5 CK syndrome 300831 Q15738 {Lung cancer, resistance to} 211980 P11509 {Systemic lupus erythematous, association with susceptibility to, 6} 609939 P11215 Quebec platelet disorder 601709 P00749 Hemosiderosis, systemic, due to aceruloplasminemia 604290 P00450 GAMT deficiency 612736 Q14353 Ehlers-Danlos syndrome, type IV 130050 P02461 Lipodystrophy, congenital generalized, type 3 612526 Q03135 Pituitary hormone deficiency, combined, 5 182230 Q9UBX0 Diastrophic dysplasia, broad bone-platyspondylic variant 222600 P50443 Supravalvar aortic stenosis 185500 P15502 Pituitary hormone deficiency, combined, 6 613986 P32243 Loeys-Dietz syndrome, type 2B 610380 P37173 Nephrolithiasis/osteoporosis, hypophosphatemic, 1 612286 Q06495 Hepatic lipase deficiency 614025 P11150 Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity 609889 P15918 Peters anomaly 604229 Q16678,P26367,Q99697 Friedreich ataxia 229300 Q16595 Factor X deficiency 227600 P00742 Cataract, polymorphic and lamellar 604219 P30301 Mucopolysaccharidosis type IIIC (Sanfilippo C 252930 Q68CP4 2-methylbutyrylglycinuria 610006 P45954 Thrombocytopenia with beta-thalassemia, X-linked 314050 P15976 {Malaria, vivax, protection against} 611162 Q16570 [Blood group, P system] 111400 Q9NPC4,O75752 [Blood group, Radin] 111620 Q96PL5 Hyperostosis, endosteal 144750 O75197 Combined factor V and VIII deficiency 227300 P49257 Marinesco-Sjogren syndrome 248800 Q9H173 Hydrocephalus with congenital idiopathic intestinal pseudoobstruction 307000 P32004 Jackson-Weiss syndrome 123150 P11362,P21802 Cataract, lamellar 116800 Q9ULV5 Transcobalamin II deficiency 275350 P20062 Short rib-polydactyly syndrome, type II, digenic 263520 Q8NCM8 SEMD, Pakistani type 612847 O95340 Myotonia congenita, atypical, acetazolamide-responsive 608390 P35499 [Skin/hair/eye pigmentation 5, dark/light eyes] 227240 Q9UMX9 Wagner syndrome 1 143200 P13611 Homocystinuria-megaloblastic anemia, cbl E type 236270 Q9UBK8 Band-like calcification with simplified gyration and polymicrogyria 251290 Q16625 Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation 611291 Q9H9Q4 Mental retardation, X-linked, with epilepsy 300423 O75787 Hallermann-Streiff syndrome 234100 P17302 Tumoral calcinosis, hyperphosphatemic, familial 211900 Q9GZV9,Q14435 Saccharopinuria 268700 Q9UDR5 Sotos syndrome 117550 Q96L73 Thrombophilia due to protein S deficiency 612336 P07225 Myotubular myopathy, X-linked 310400 Q13496 {Hemolytic uremic syndrome, atypical, susceptibility to, 3} 612923 P05156 Frasier syndrome 136680 P19544 {Thrombosis, susceptibility to} 188050 P00734 Giant axonal neuropathy-1 256850 Q9H2C0 Leukoencephalopathy with dystonia and motor neuropathy 613724 P22307 Enlarged vestibular aqueduct 600791 Q12951,O43511 Spinal muscular atrophy, distal, congenital nonprogressive 600175 Q9HBA0 {Alzheimer disease, late-onset} 104300 Q92870 Hypomagnesemia 3, renal 248250 Q9Y5I7 Neurofibromatosis, type 1 162200 P21359 Hyperbilirubinemia, familial transcient neonatal 237900 P35504,P22309,O60656,Q9HAW8,Q9HAW9,P19224,P22310,P35503,Q9HAW7 Glycogen storage disease of heart, lethal congenital 261740 Q9UGJ0 {Macular degeneration, age-related, 9} 611378 P01024 Spherocytosis, type 4 612653 P02730 Brown-Vialetto-Van Laere syndrome 211530 Q9NQ40 Spastic paraplegia-8 603563 Q12768 Spastic paraplegia-6 600363 Q7RTP0 Segawa syndrome, recessive 605407 P07101 Spastic paraplegia-4 182601 Q9UBP0 Keratosis linearis with ichthyosis congenita and sclerosing keratoderma 601952 Q9Y244 Spastic paraplegia-2 312920 P60201 CAP myopathy 609284 P06753 Erythrocytosis due to bisphosphoglycerate mutase deficiency 222800 P07738 Hyperparathyroidism-jaw tumor syndrome 145001 Q6P1J9 Arterial tortuosity syndrome 208050 O95528 Macular dystrophy, vitelliform 608161 P23942 Muscular dystrophy, congenital merosin-deficient 607855 P24043 Neuropathy, hereditary sensory and autonomic, type IIB 613115 Q9H6L5 Marfan syndrome 154700 P35555 Stargardt disease 4 603786 O43490 Heinz body anemias, beta 140700 P68871 Short rib-polydactyly syndorme, type II 263520 Q96PY6 Mental retardation, autosomal recessive 13 613192 Q96Q05 {Autism susceptibility 10} 611016 P19622 Parathyroid carcinoma 608266 Q6P1J9 Pilomatricoma 132600 P35222 Ichthyosis bullosa of Siemens 146800 P35908 {Macular degeneration, age-related, neovascular type} 610149 Q92743 Chediak-Higashi syndrome 214500 Q99698 Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 302800 P08034 Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 613152 O75072 {Kaposi sarcoma, susceptibility to} 148000 P05231 LEOPARD syndrome 2 611554 P04049 LEOPARD syndrome 3 613707 P15056 LEOPARD syndrome 1 151100 Q06124 Blepharophimosis, epicanthus inversus, and ptosis, type 1 110100 P58012 Blepharophimosis, epicanthus inversus, and ptosis, type 2 110100 P58012 Erythermalgia, primary 133020 Q15858 Venous malformations, multiple cutaneous and mucosal 600195 Q02763 Sickle cell anemia 603903 P68871 Hypermethioninemia due to adenosine kinase deficiency 614300 P55263 Aland Island eye disease 300600 O60840 Ulnar-mammary syndrome 181450 O15119 Thrombophilia, familial, due to decreased release of PLAT 612348 P00750 Seborrhea-like dermatitis with psoriasiform elements 610227 Q32MQ0 Diabetes mellitus, permanent neonatal, with neurologic features 606176 Q14654 Hemorrhagic diathesis due to \'antithrombin\' Pittsburgh 613490 P01009 Coproporphyria 121300 P36551 Ehlers-Danlos syndrome, autosomal dominant, hypermobility type 130020 Q16473,P22105 Pallister-Hall syndrome 146510 P10071 Hypotrichosis simplex 605389 Q8J025 Ceroid-lipofuscinosis, neuronal-5, variant late infantile 256731 O75503 Myopathy, congenital, with fiber-type disproportion 1 255310 P68133 Prostate cancer 1, , 601518 176807 Q05823 Glycosylphosphatidylinositol deficiency 610293 Q9H3S5 Myopathy, early-onset, areflexia, respiratory distress, and dysphagia 614399 Q96KG7 Precocious puberty, male 176410 P22888 Thrombocythemia, essential 187950 O60674,P40238,P40225 Knobloch syndrome 2 608454 Q8TE60 Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovasuclar malforamtions 613759 Q13158 {Stroke, susceptibility to, 1} 606799 Q08499 Moyamoya disease 5 614042 P62736 Hepatic adenoma 142330 P20823 Myopathy due to CPT II deficiency 255110 P23786 Usher syndrome, typ IIC, GPR98/PDZD7 digenic 605472 Q9H5P4 Nemaline myopathy 2, autosomal recessive 256030 P20929 Epidermolysis bullosa dystrophica, AD 131750 Q02388 Velocardiofacial syndrome 192430 O43435 Albinism, oculocutaneous, type IA 203100 P14679 Albinism, oculocutaneous, type IB 606952 P14679 Canavan disease 271900 P45381 von Willebrand disease, type 1 193400 P04275 Maculopathy, IMPG2-related 613581 Q9BZV3 Albinism, oculocutaneous, type II 203200 Q04671 Beckwith-Wiedemann syndrome 130650 P49918,Q96L73 Epidermolysis bullosa dystrophica, AR 226600 Q02388 Spherocytosis, hereditary, type 5 612690 P16452 Wrinkly skin syndrome 278250 Q9Y487 {Neuroblastoma, susceptibility to, 3} 613014 Q9UM73 Deafness, autosomal recessive 91 613453 P35237 {Blepharospasm, primary benign} 606798 P21918 Carney complex variant 608837 P13535 Left ventricular noncompaction 3, with or without dilated cardiomyopathy 601493 O75112 Neuropathy, distal hereditary motor, type V 600794 Q96G97,P41250 Thyrotropin-releasing hormone deficiency 275120 P20396 Usher syndrome, type 1D 601067 Q9H251 Hypotrichosis 8 278150 P43657 Diabetes mellitus, type 1 125852 P01308 Waardenburg syndrome, type 2A 193510 O75030 Diabetes mellitus, type 2 125853 O43316 Migraine, familial basilar 602481 P50993 Ceroid lipofuscinosis, neuronal 8 600143 Q9UBY8 Fructose-1,6-bidphosphatase deficiency 229700 P09467 Hyperoxaluria, primary, type II 260000 Q9UBQ7 Epilepsy, X-linked, with variable learning disabilities and behavior disorders 300491 P17600 {Stroke, ischemic, susceptibility to} 601367 P00734,P12259 Citrullinemia 215700 P00966 Acrocapitofemoral dysplasia 607778 Q14623 Cutis laxa, autosomal recessive 219100 Q9UBX5 Periventricular heterotopia with microcephaly 608097 Q9Y6D5 Glaucoma 1, open angle, 1O 613100 P34130 {Diabetes mellitus, insulin-dependent, 5} 600320 Q6EEV6 {Diabetes, type 2} 125853 P37231 Epilepsy, progressive myoclonic 1B 612437 Q96MT3 Lipoprotein glomerulopathy 611771 P02649 Breast cancer, somatic 114480 P31749,P01116,P42336,Q8TDY2,Q96BI1 {Autism susceptibility, X-linked 1} 300425 Q9NZ94 Gaucher disease, perinatal lethal 608013 P04062 Frontotemporal lobar degeneration, TARDBP-related 612069 Q13148 Senior-Loken syndrome 5 609254 Q15051 SERKAL syndrome 611812 P56705 Hypercholanemia, familial 607748 Q14032,P07099,Q9UDY2 {Hypothalamic hamartomas, somatic} 241800 P10071 Renal tubular dysgenesis 267430 P12821,P01019,P30556,P00797 Toenail dystrophy, isolated 607523 Q02388 Hypogonadotropic hypogonadism 146110 Q9P2D1,P11362,Q969F8,Q6X4W1,Q9UHF0,P29371 Renal cell carcinoma, papillary, 1 300854 P19532 Alagille syndrome 118450 P78504 Porokeratosis, disseminated superficial actinic, 1 175900 Q15020 Cataract, juvenile, with microcornea and glucosuria 612018 Q6ZSM3 {Encephalopathy, acute, infection-induced, 4, susceptibility to} 614212 P23786 {Systemic lupus erythematosus susceptibility to} 152700 Q9Y2R2 {Pancreatitis, idiopathic} 167800 P13569 Hypotrichosis, localized, autosomal recessive 2 604379 Q8WWY8 Joubert syndrome 4 609583 O15259 Mental retardation, X-linked 9 309549 Q9UET6 XFE progeroid syndrome 610965 Q92889 Methylmalonic aciduria, vitamin B12-responsive 251100 Q8IVH4 {Allergic rhinitis, susceptibility to} 607154 P35225 Ichthyosis, lamellar, 4 613943 Q5VXI9 Emery-Dreifuss muscular dystrophy 6, X-linked 300696 Q13642 {Dengue fever, protection against} 614371 Q9NNX6 Ichthyosis, lamellar, 3 604777 Q6NT55 Bardet-Biedl syndrome 9 209900 Q3SYG4 Long QT syndrome-10 611819 Q8IWT1 Cataract, congenital nuclear, 2 609741 P26998 Cataract with late-onset corneal dystrophy 604219 P26367 Bardet-Biedl syndrome 8 209900 Q8TAM2 Microphthalmia with coloboma 6, digenic 613703 Q6KF10 Methemoglobinemia, type II 250800 P00387 Cataract, posterior polar 2 613763 P02511 Glutaric acidemia IIA 231680 P13804 Amelogenesis imperfecta, hypomaturation-hypoplastic type, with taurodontism 104510 O60479 Glutaric acidemia IIC 231680 Q16134 Glutaric acidemia IIB 231680 P38117 Acyl-CoA dehydrogenase, medium chain, deficiency of 201450 P11310 Phosphoglycerate kinase 1 deficiency 300653 P00558 Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked 304790 Q9BZS1 Noonan syndrome-like disorder with or without juvenile meylomonocytic leukemia 613563 P22681 Bile acid synthesis defect, congenital, 3 613812 O75881 Bile acid synthesis defect, congenital, 2 235555 P51857 Bile acid synthesis defect, congenital, 4 214950 Q9UHK6 Mental retardation, X-linked 1 309530 Q5JU85 COACH syndrome 216360 Q9P2K1,Q68CZ1,Q5HYA8 Mannosidosis, beta 248510 O00462 Thyroid carcinoma, papillary, somatic 188550 P10644 Amyotrophic lateral sclerosis, juvenile 205100 Q96Q42 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 5 613077 Q7LG56 Muscle glycogenosis 300559 P46020 Wolfram syndrome 222300 O76024 Phosphoserine phosphatase deficiency 614023 P78330 Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission 614388 O00429 Nephronophthisis 2, infantile 602088 Q9Y283 Muscular dystrophy, congenital 613205 P02545 Ceroid lipofuscinosis, neuronal, 7 610951 Q8NHS3 {Codeine sensitivity} 608902 P10635 Mabry syndrome 239300 Q9NUD9 Pseudovaginal perineoscrotal hypospadias 264600 P31213 Retinal arterial macroaneurysm with supravalvular pulmonic stenosis 614224 Q16270 RIDDLE syndrome 611943 Q8IYW5 Hypomagnesemia 5, renal, with ocular involvement 248190 Q8N6F1 Muenke syndrome 602849 P22607 Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 224050 P98155 Germ cell tumors 273300 P10721 Seizures, benign neonatal, type 2 121201 O43525 {Sick sinus syndrome 3} 614090 P13533 Robinow syndrome, autosomal dominant 180700 P41221 {Pneumococcal disease, invasive, protection against} 610799 P58753 Enterokinase deficiency 226200 P98073 Gnathodiaphyseal dysplasia 166260 Q75V66 von Hippel-Lindau disease, modification of 193300 P24385 Thrombophilia due to heparin cofactor II deficiency 612356 P05546 Tyrosinemia, type III 276710 P32754 Immunodeficiency, common variable, 1 607594 Q9Y6W8 Ataxia-telangiectasia 208900 Q13315 {Malaria, resistance to} 611162 P31994,P02724,P04921,P35228 Weill-Marchesani syndrome 1, recessive 277600 Q9H324 {Bardet-Biedl syndrome, modifier of} 209900 Q9BUN5 {Osteoarthritis susceptibility 2} 140600 O15232 Erythrokeratodermia variabilis et progressiva 133200 O75712 Alcohol sensitivity, acute 610251 P05091 Ovarian cancer, somatic 167000 P31749,P42336 Factor VII deficiency 227500 P08709 Spastic ataxia, Charlevoix-Saguenay type 270550 Q9NZJ4 Exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of Siemens-like 607936 P01040 Glycogen storage disease, type IXa2 306000 P46019 Gaucher disease, type IIIC 231005 P04062 Glycogen storage disease, type IXa1 306000 P46019 {Buruli ulcer, susceptibility to} 610446 P49279 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150 Q9UKY4 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 253280 Q8WZA1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670 Q9Y6A1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154 O95461 Subcortical laminal heteropia, X-linked 300067 O43602 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800 O75072 Cataract, congenital nuclear, autosomal recessive 3 611544 P53674 {Male germ cell tumor, somatic} 273300 O95999 Cone dystrophy-3 602093 P43080 Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities 613177 Q8N2S1 CHILD syndrome 308050 Q15738 Pseudohypoparathyroidism Ic 612462 P84996,P63092,Q5JWF2,O95467 Alport syndrome 301050 P29400 Aldosteronism, glucocorticoid-remediable 103900 P15538 {Inflammatory bowel disease 1} 266600 Q9HC29 Cardiomyopathy, dilated 1C 601493 O75112 Sitosterolemia 210250 Q9H222,Q9H221 Myopathy, myofibrillar, fatal infantile hypertrophy, alpha-B crystallin-related 613869 P02511 Esophageal squamous cell carcinoma 133239 Q9P2X7,Q9Y250,Q9NZC7 Colorblindness, tritan 190900 P03999 [Resting heart rate] 607276 P08588 Pseudohypoparathyroidism, type IB 603233 O14662 Choriodal dystrophy, central areolar 2 613105 P23942 Diabetes, permanent neonatal 606176 Q14654 Cleft lip/palate-ectodermal dysplasia syndrome 225060 Q15223 Combined immunodeficiency, X-linked, moderate 312863 P31785 Retinitis pigmentosa 61 614180 P58418 Adrenoleukodystrophy 300100 P33897 Hepatocellular cancer 114550 Q15198 D-2-hydroxyglutaric aciduria 600721 Q8N465 Lymphedema, hereditary, IC 613480 Q5T442 Emberger syndrome 614038 P23769 Chondrodysplasia punctata, X-linked dominant 302960 Q15125 Hoyeraal-Hreidarsson syndrome 300240 O60832 Heterotaxy, visceral, 5 270100 Q96S42 Birt-Hogg-Dube syndrome 135150 Q8NFG4 Haim-Munk syndrome 245010 P53634 [Skin/hair/eye pigmentation 3, light/dark/freckling skin] 601800 P14679 Feingold syndrome 2 614326 Q75NE6 Hypophosphatemic rickets, AR 241520 Q13316 Diabetes mellitus, insulin-dependent, 20 612520 P20823 Renal cell carcinoma 144700 Q96SL1,P20823,Q8WU17 Dravet syndrome 607208 P18507,P35498,Q15858 Emery-Dreifuss muscular dystrophy 3, AR 181350 P02545 Ventricular tachycardia, idiopathic 192605 P04899 Dermatopathia pigmentosa reticularis 125595 P02533 Thrombophilia due to protein C deficiency, autosomal dominant 176860 P04070 Citrullinemia, adult-onset type II 603471 Q9UJS0 Advanced sleep phase syndrome, familial 604348 O15055 Kowarski syndrome 262650 P01241 MHC class II deficiency, complementation group B 209920 O14593 Hypertrophic osteoarthropathy, primary, autosomal recessive 259100 P15428 Deafness, autosomal dominant 15 602459 Q15319 Deafness, autosomal dominant 17 603622 P35579 5-fluorouracil toxicity 274270 Q12882 Deafness, autosomal dominant 11 601317 Q13402 Deafness, autosomal dominant 13 601868 P13942 Bardet-Biedl syndrome 5 209900 Q8N3I7 Bardet-Biedl syndrome 4 209900 Q96RK4 Bardet-Biedl syndrome 7 209900 Q8IWZ6 Bardet-Biedl syndrome 6 209900 Q9NPJ1 Bardet-Biedl syndrome 1 209900 Q8NFJ9 Bardet-Biedl syndrome 3 209900 Q9H0F7 Bardet-Biedl syndrome 2 209900 Q9BXC9 Cornelia de Lange syndrome 2 300590 Q14683 Cornelia de Lange syndrome 3 610759 Q9UQE7 Specific granule deficiency 245480 Q15744 Cornelia de Lange syndrome 1 122470 Q6KC79 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 604377 O43819 Spondyloepiphyseal dysplasia, Kimberley type 608361 P16112 Trismus-pseudocamptodactyly syndrome 158300 P13535 Dilated cardiomyopathy with woolly hair and keratoderma 605676 P15924 Congenital bilateral absence of vas deferens 277180 P13569 [Bone mineral density variability 1] 601884 O75197 [Histidinemia] 235800 P42357 Hypobetalipoproteinemia, familial, 2 605019 Q9Y5C1 {Asperger syndrome susceptibility, X-linked 2} 300497 Q8N0W4 {Hypercalciuria, absorptive, susceptibility to} 143870 Q96PN6 Choanal atresia and lymphedema 613611 Q15678 Huntington disease-like 2 606438 Q8WXH2 Dementia, frontotemporal, with or without parkinsonism 600274 P10636 Oculoauricular syndrome 612109 Q9NP08 Short QT syndrome-3 609622 P63252 Short QT syndrome-1 609620 Q12809 Candidiasis, familial, 7 614162 P42224 Cone-rod dystrophy-1 304020 Q92834 Hereditary motor and sensory neuropathy, type IIc 606071 Q9HBA0 Albinism, oculocutaneous, type III 203290 P17643 Huntington disease-like 1 603218 P04156 Retinal cone dystrophy 4 610478 Q7Z3S7 Retinal cone dystrophy 3 610024 Q13956 {Kawasaki disease, susceptibility to} 611775 Q96DU7 Short QT syndrome-2 609621 P51787 Arthyrgryposis, distal, type 2B 601680 P45378 Myxoid liposarcoma 613488 P35638 Tooth agenesis, selective, 1, with or without orofacial cleft 106600 P28360 Leukodystrophy, adult-onset, autosomal dominant 169500 P20700 Gaucher disease, type III 231000 P04062 Keratosis palmoplantaris striata III 607654 P04264 Pulmonary hypertension, familial primary 178600 Q13873 {Herpes simplex encephalitis, susceptibility to, 2} 613002 O15455 {Schizophrenia} 181500 Q9H0Q3,Q9BQE5,Q9BPW4,P14920,P59103,Q96EV8 Arthrogryposis, distal, type 1B 614335 Q00872 C2 deficiency 217000 P06681 Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 607694 O14802 Muckle-Wells syndrome 191900 Q96P20 Primary lateral sclerosis, juvenile 606353 Q96Q42 Spondylo-megaepiphyseal-metaphyseal dysplasia 613330 P78367 Nemaline myopathy 1, autosomal dominant 609284 P06753 Reynolds syndrome 613471 Q14739 Molybdenum cofactor deficiency, type A 252150 Q9NZB8 Molybdenum cofactor deficiency, type B 252150 O96007,O96033 Molybdenum cofactor deficiency, type C 252150 Q9NQX3 Rhabdomyosarcoma, somatic 268210 Q96BI1 {Thyrotoxic periodic paralysis, susceptibility to, 2} 613239 B7U540 Arthropathy, progressive pseudorheumatoid, of childhood 208230 O95389 Hypophosphatasia, childhood 241510 P05186 Waardenburg syndrome, type 4C 613266 P56693 Iris hypoplasia and glaucoma 601631 Q12948 Neutropenia, cyclic 162800 P08246 {Sudden infant death syndrome, susceptibility to} 272120 Q14524 Myasthenia, limb-girdle, familial 254300 O00468,Q18PE1 Optic nerve coloboma with renal disease 120330 Q02962 Abetalipoproteinemia 200100 P55157 Cardiomyopathy, dilated, 1A 115200 P02545 Cardiomyopathy, dilated, 1G 604145 Q8WZ42 Cardiomyopathy, dilated, 1D 601494 P45379 Cardiomyopathy, dilated, 1E 601154 Q14524 Cardiomyopathy, dilated, 1J 605362 O95677 {Cystic fibrosis lung disease, modifier of} 219700 P01137 Cardiomyopathy, dilated, 1I 604765 P17661 Cardiomyopathy, dilated, 1N 607487 O15273 Cardiomyopathy, dilated, 1O 608569 O60706 Cardiomyopathy, dilated, 1L 606685 Q92629 Cardiomyopathy, dilated, 1M 607482 P50461 Cardiomyopathy, dilated, 1R 613424 P68032 Osteoporosis, involutional 166710 P11473 Cardiomyopathy, dilated, 1P 609909 P26678 Cardiomyopathy, dilated, 1V 613697 P49810 Cardiomyopathy, dilated, 1W 611407 P18206 Cardiomyopathy, dilated, 1T 613740 P42167,P42166 Cardiomyopathy, dilated, 1U 613694 P49768 Cardiomyopathy, dilated, 1Z 611879 P63316 Atrial fibrillation, familial, 12 614050 O60706 Atrial fibrillation, familial, 11 614049 P36382 Atrial fibrillation, familial, 10 614022 Q14524 Sudden infant death with dysgenesis of the testes syndrome 608800 Q9H0U9 Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness 300455 Q92834 Erythrocytosis, familial, 4 611783 Q99814 T-cell immunodeficiency, congenital alopecia, and nail dystrophy 601705 O15353 Dopamine beta-hydroxylase deficiency 223360 P09172 Hydrolethalus syndrome 236680 Q96M11 Neutral lipid storage disease with myopathy 610717 Q96AD5 Mental retardation, X-linked 29 and others 300419 Q96QS3 Nevo syndrome 601451 Q02809 Ovarian dysgenesis 1 233300 P23945 Ovarian dysgenesis 2 300510 O95972 Ovarian dysgenesis 3 614324 Q9P2W1 Thrombocytopenia, congenital amegakaryocytic 604498 P40238 Corneal dystrophy, hereditary polymorphous posterior 122000 Q9NZR4 Congenital heart disease, nonsyndromic, 2 612863 Q9NYJ8 [Kininogen deficiency] 228960 P01042 Seckel syndrome 5 613823 O94986 Seckel syndrome 4 613676 Q9HC77 Diabetes mellitus, permanent neonatal 606176 Q09428,P35557,P01308 Deafness, autosomal recessive 82 613557 P81274 Ring dermoid of cornea 180550 Q99697 Corneal dystrophy, Avellino type 607541 Q15582 Oculodentodigital dysplasia, autosomal recessive 257850 P17302 Myeloperoxidase deficiency 254600 P05164 Hyperferritinemia-cataract syndrome 600886 P02792 Neutropenia, severe congenital 2, autosomal dominant 613107 Q99684 Spondyloepiphyseal dysplasia tarda 313400 P0DI81 Breast cancer, lobular 114480 P12830 Retinal degeneration, late-onset, autosomal dominant 605670 Q9BXJ0 [Short sleeper] 612975 Q9C0J9 Mephenytoin poor metabolizer 609535 P33261 Familial cold autoinflammatory syndrome 2 611762 P59046 Hemophagocytic lymphohistiocytosis, familial, 4 603552 O75558 Myopathy, distal, with anterior tibial onset 606768 O75923 {Parkinson disease, susceptibility to} 168600 P00326,P10636,P20226 Hemophagocytic lymphohistiocytosis, familial, 3 608898 Q70J99 Hemophagocytic lymphohistiocytosis, familial, 2 603553 P14222 Thrombosis, hyperhomocysteinemic 236200 P35520 Macrothrombocytopenia and progressive sensorineural deafness 600208 P35579 Glycogen storage disease X 261670 P15259 Microphthalmia with cataract 4 610426 P53673 Meesmann corneal dystrophy 122100 Q99456,P12035 Thyroid dyshormonogenesis 1 274400 Q92911 Thyroid dyshormonogenesis 3 274700 P01266 Thyroid dyshormonogenesis 4 274800 Q6PHW0 Thyroid dyshormonogenesis 5 274900 Q1HG44 Glomerulosclerosis, focal segmental, 1 603278 O43707 Glomerulosclerosis, focal segmental, 2 603965 Q9Y210 Glomerulosclerosis, focal segmental, 3 607832 Q9Y5K6 Glomerulosclerosis, focal segmental, 5 613237 Q27J81 Glomerulosclerosis, focal segmental, 6 614131 Q12965 Noonan syndrome 5 611553 P04049 Inflammatory bowel disease 19 612278 A1A4Y4 Candidiasis, familial, 4, autosomal dominant 613108 Q9BXN2 Noonan syndrome 6 613224 P01111 Cardiac arrhythmia, ankyrin-B-related 600919 Q01484 Noonan syndrome 3 609942 P01116 Nephrogenic syndrome of inappropriate antidiuresis 300539 P30518 Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal 610644 Q2MKA7 Premature ovarian failure 3 608996 P58012 {Bacteremia, protection against} 614382 P58753 Dyskeratosis congenita, autosomal dominant 2 613989 O14746 Dyskeratosis congenita, autosomal dominant 3 613990 Q9BSI4 Left ventricular noncompaction 6 601494 P45379 Left ventricular noncompaction 4 613424 P68032 Left ventricular noncompaction 5 613426 P12883 Aortic valve disease 109730 P46531 Diabetes mellitus, permanent neonatal, with cerebellar agenesis 609069 Q7RTS3 Cholestasis, benign recurrent intrahepatic, 2 605479 O95342 {Autoimmune disease, susceptibility to, 1} 607836 Q9UJU5 Mental retardation, X-linked syndromic, Raymond type 300799 Q9Y397 Cardiomyopathy, familial hypertrophic 17 613873 Q9BR39 Pancreatic cancer/melanoma syndrome 606719 Q8N726,P42771 Denys-Drash syndrome 194080 P19544 Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete 613743 P05108 Cone-rod dystrophy 5 600977 Q9BZ71 Orofacial cleft 11 600625 P12644 Orofacial cleft 10 613705 P63165 Synpolydactyly with foot anomalies 186000 P35453 Factor XII deficiency 234000 P00748 {Gastric cancer risk after H. pylori infection} 137215 P01584,P18510 {Osteoarthritis susceptibility 3} 607850 Q9BXN1 Hypotrichosis simplex of scalp 1 146520 Q15517 Sick sinus syndrome 1 608567 Q14524 Rubinstein-Taybi syndrome 180849 Q92793 Nephrotic syndrome, type 5, with or without ocular abnormalities 614199 P55268 Rhizomelic chondrodysplasia punctata, type 1 215100 O00628 Macular degeneration, X-linked atrophic 300834 Q92834 Rhizomelic chondrodysplasia punctata, type 3 600121 O00116 Senior-Loken syndrome-1 266900 O15259 {Leprosy, susceptibility to} 246300 O60603,O60260 Adenomas, multiple colorectal 608456 Q9UIF7 [Dysalbuminemic hyperzincemia] 194470 P02768 {Deafness, autosomal recessive 12, modifier of} 601386 Q01814 Ventricular fibrillation, paroxysmal familial, 2 612956 P42658 Lysosomal acid phosphatase deficiency 200950 P11117 Adiponectin deficiency 612556 Q15848 IRAK4 deficiency 607676 Q9NWZ3 Spastic paraplegia-3A 182600 Q8WXF7 {Neuroblastoma, susceptibility to, 2} 613013 Q99453 Leukocyte adhesion deficiency 116920 P05107 FG syndrome 2 300321 P21333 {Hyperlipidemia, familial combined, susceptibility to} 602491 P22415 Combined hyperlipidemia, familial 144250 P06858 OI type II 166210 P02452 Retinitis pigmentosa 36 610599 Q00LT1 Anemia, X-linked, without thrombocytopenia 300835 P15976 FG syndrome 4 300422 O14936 {Attention deficit-hyperactivity disorder, susceptibility to, 7} 613003 Q8IWU9 Retinitis pigmentosa 37 611131 Q9Y5X4 Lymphoma, MALT, somatic 137245 O95999 Syndactyly, type V 186300 P35453 Fundus flavimaculatus 248200 P78363 Xeroderma pigmentosum, variant type 278750 Q9Y253 {Nonsmall cell lung cancer, susceptibility to} 211980 P00533 Acromegaly 102200 P84996,P63092,Q5JWF2,O95467 {Glioma susceptibility 2} 613028 P60484 OI type IV 166220 P02452 Obesity, adrenal insufficiency, and red hair due to POMC deficiency 609734 P01189 Peters-plus syndrome 261540 Q6Y288 Myopathy, myofibrillar, 5 609524 Q14315 Ventricular tachycardia, catecholaminergic polymorphic, 1 604772 Q92736 Cortisone reductase deficiency 604931 O95479,P28845 {Alcohol dependence} 103780 Q9NYV7 Inflammatory bowel disease 25, early onset, autosomal recessive 612567 Q08334 Spondyloepimetaphyseal dysplasia, aggrecan type 612813 P16112 Glycogen storage disease XV 613507 P46976 {Pseudofolliculitis barbae, susceptibility to} 612318 O95678 Rhabdoid predisposition syndrome 1 609322 Q12824 Kleefstra syndrome 610253 Q9H9B1 Glycogen storage disease XI 612933 P00338 Fructose intolerance 229600 P05062 Mental retardation, truncal obesity, retinal dystrophy, and micropenis 610156 Q9NRR6 Neuropathy, distal hereditary motor, type VIIB 607641 Q14203 Terminal osseous dysplasia 300244 P21333 Endometrial cancer 608089 Q9UHC1 {Schizophrenia, susceptibility to, 4} 600850 O43272 Deafness, autosomal recessive 10, congenital 605316 P57727 Acromesomelic dysplasia, Hunter-Thompson type 201250 P43026 [Skin/hair/eye pigmentation 2, blond hair/fair skin] 266300 Q01726 Generalized epilepsy with febrile seizures plus, type 1 604233 Q07699 Pancreatic lipase deficiency 614338 P16233 {Inflammatory bowel disease 17, protection against} 612261 Q5VWK5 Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 208920 Q7Z2E3 Odontoonychodermal dysplasia 257980 Q9GZT5 Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency 202010 P15538 Wilson disease 277900 P35670 {Hypertension, insulin resistance-related, susceptibility to} 125853 Q9HD89 Methylmalonic aciduria and homocystinuria, cblC type 277400 Q9Y4U1 Ciliary dyskinesia, primary, 13 613193 Q8NEP3 Ciliary dyskinesia, primary, 12 612650 Q9H1X1 Ciliary dyskinesia, primary, 11 612649 Q5TD94 Ciliary dyskinesia, primary, 10 612518 Q9NVR5 Angioedema, hereditary, type III 610618 P00748 Ciliary dyskinesia, primary, 16 614017 Q4LDG9 Ciliary dyskinesia, primary, 15 613808 Q4G0X9 Ciliary dyskinesia, primary, 14 613807 Q9UFE4 {Cerebral infarction, susceptibility to} 601367 P24723 Hemochromatosis, type 2B 613313 P81172 Hemochromatosis, type 2A 602390 Q6ZVN8 Anemia, hemolytic, Rh-null, regulator type 268150 Q02094 Neurofibromatosis-Noonan syndrome 601321 P21359 {Vitamin B12 plasma level QTL1} 612542 Q10981 Myelofibrosis, idiopathic 254450 O60674 {Legionaire disease, susceptibility to} 608556 O60602 {Hypothyroidism, autoimmune} 140300 P16410 Endometrial carcinoma, somatic 608089 P12830,P60484 Brachydactyly-syndactyly syndrome 610713 P35453 Glycogen storage disease XIII 612932 P13929 Li-Fraumeni-like syndrome 151623 P04637 {Hangover, susceptibility to} 610251 P05091 Epidermolysis bullosa, junctional, Herlitz type 226700 Q16787,Q13751,Q13753 Sucrase-isomaltase deficiency, congenital 222900 P14410 Myeloid leukemia, acute, M4/M4Eo subtype 601626 Q13951 Spondylocheirodysplasia, Ehlers-Danlos syndrome-like 612350 Q96H72 Urocanase deficiency 276880 Q96N76 Hypoparathyroidism, autosomal dominant 146200 P01270 [Dystransthyretinemic hyperthyroxinemia] 145680 P02766 {Spina bifida, susceptibility to} 182940 P13500 Polyposis syndrome, hereditary mixed, 2 610069 P36894 Mucolipidosis IV 252650 Q9GZU1 Hypoaldosteronism, congenital, due to CMO I deficiency 203400 P19099 [Skin/hair/eye pigmentation 5, black/nonblack hair] 227240 Q9UMX9 Mental retardation, X-linked 58 300210 P41732 Dimethylglycine dehydrogenase deficiency 605850 Q9UI17 Hyperthyroidism, familial gestational 603373 P16473 Deafness, autosomal dominant 2A 600101 P56696 Deafness, autosomal dominant 2B 612644 O75712 Epileptic encephalopathy, early infantile, 11 613721 Q99250 Epileptic encephalopathy, early infantile, 10 613402 Q96T60 Epileptic encephalopathy, early infantile, 12 613722 Q9NQ66 Glycogen storage disease IXc 613027 P15735 Nephronophthisis 4 606966 O75161 Deafness, autosomal dominant 36, with dentinogenesis 605594 Q9NZW4 Deafness, autosomal dominant 23 605192 Q15475 Deafness, autosomal dominant 22 606346 Q9UM54 Deafness, autosomal dominant 25 605583 Q8NDX2 Mitochondrial DNA depletion syndrome 4B (MNGIE type 613662 P54098 {Mycobacterial infection, atypical, familial disseminated} 209950 P38484 TARP syndrome 311900 P98175 Pulmonary fibrosis, idiopathic 178500 Q8IWL1 Deafness, autosomal dominant 28 608641 Q6ISB3 {Obesity, variation in} 601665 Q86YN6 Neuropathy, hereditary sensory, type IE 614116 P26358 Paget disease, juvenile 239000 O00300 Dentinogenesis imperfecta, Shields type II 125490 Q9NZW4 Lung cancer 211980 Q9Y238,Q9NS23,P01116,P30154 Opitz-Kaveggia syndrome 305450 Q93074 Oculopharyngeal muscular dystrophy 164300 Q86U42 Myotonic dystrophy 2 602668 P62633 Myotonic dystrophy 1 160900 Q09013 Carnitine deficiency, systemic primary 212140 O76082 Factor XIIIB deficiency 613235 P05160 Tuberous sclerosis-1 191100 Q92574 {Melanoma, cutaneous malignant, susceptibility to, 8} 601800 P14679 {HIV infection, resistance to} 609423 P10147 Bartter syndrome, type 4b, digenic 613090 P51800 Hypophosphatemic rickets, autosomal recessive, 2 613312 P22413 Hypoparathyroidism, sensorineural deafness, and renal dysplasia 146255 P23771 {Asthma, protection against} 600807 Q8TAX7 Platelet disorder, familial, with associated myeloid malignancy 601399 Q01196 Hyperinsulinemic hypoglycemia, familial, 1 256450 Q09428 Galactosemia 230400 P07902 Hyperinsulinemic hypoglycemia, familial, 3 602485 P35557 Hyperinsulinemic hypoglycemia, familial, 4 609975 Q16836 Hyperinsulinemic hypoglycemia, familial, 5 609968 P06213 Hyperinsulinemic hypoglycemia, familial, 7 610021 P53985 Split-hand/foot malformation 6 225300 O00744 Split-hand/foot malformation 4 605289 Q9H3D4 {Obesity, severe, susceptibility to, BMIQ9} 602025 P41968 {TSC2 angiomyolipomas, renal, modifier of} 613254 P01579 Mitochondrial myopathy and sideroblastic anemia 1 600462 Q9Y606 Chondrocalcinosis 2 118600 Q9HCJ1 Basal cell carcinoma, somatic 605462 Q13635,Q9Y6C5,P20936 Epidermolysis bullosa, pretibial 131850 Q02388 Frank-ter Haar syndrome 249420 A1X283 Lymphangioleiomyomatosis, somatic 606690 P49815 Krabbe disease 245200 P54803 Cenani-Lenz syndactyly syndrome 212780 O75096 Neurodegeneration with brain iron accumulation 4 614298 Q9NSK7 Neurodegeneration with brain iron accumulation 1 234200 Q9BZ23 Neurodegeneration with brain iron accumulation 3 606159 P02792 Warfarin sensitivity 122700 P11712 {Breast-ovarian cancer, familial, susceptibility to, 4} 614291 O75771 {Stroke, susceptibility to} 601367 P20292 Craniolenticulosutural dysplasia 607812 Q15436 Cutis laxa, AD 123700 P15502 Vasculopathy, retinal, with cerebral leukodystrophy 192315 Q9NSU2 Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type 251110 Q96EY8 Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants 605714 P05067 Branchiootorenal syndrome with cataract 113650 Q99502 Epiphyseal dysplasia, multiple, with myopia and deafness 132450 P02458 Phosphoenolpyruvate carboxykinase-1, cytosolic, deficiency 261680 P35558 Hypercholesterolemia, familial, modification of 143890 P02652 Medulloblastoma 155255 Q9Y6C5 Pancreatic cancer 260350 P04637,P51587 {Diabetes mellitus, noninsulin-dependent} 125853 P47871,P41235,P35568,Q9Y4H2,P11150,Q9UQF2,Q13562,P14672 Spinocerebellar ataxia, autosomal recessive 10 613728 Q9NW15 {Generalized epilepsy with febrile seizures plus, type 5, susceptibility to} 613060 O14764 Mental retardation in cri-du-chat syndrome 123450 Q9UQB3 Glucose/galactose malabsorption 606824 P13866 CD59 deficiency 612300 P13987 Thyroid carcinoma, follicular 188470 Q9UNW1,P01111 Myopathy, distal, 4 614065 Q14315 Polydactyly, preaxial, type IV 174700 P10071 Schinzel-Giedion midface retraction syndrome 269150 Q9Y6X0 Pulmonary venoocclusive disease 265450 Q13873 Hypogonadotropic hypogonadism due to GNRH deficiency 227200 P01148 Chronic granulomatous disease, autosomal, due to deficiency of CYBA 233690 P13498 Aortic aneurysm, familial thoracic 6 611788 P62736 Aortic aneurysm, familial thoracic 7 613780 Q15746 Scott syndrome 262890 Q4KMQ2 Cleft palate with ankyloglossia 303400 Q9Y458 Dementia, familial British 176500 Q9Y287 Acromicric dysplasia 102370 P35555 {Ovarian cancer, somatic} 167000 Q14982 Spinocerebellar ataxia, autosomal recessive 9 612016 Q8NI60 Spinocerebellar ataxia 31 117210 Q3B7T3 Paroxysmal extreme pain disorder 167400 Q15858 Diabetes mellitus, noninsulin-dependent, late onset 125853 P35557 Palmoplantar keratoderma, nonepidermolytic 600962 P08779 Immunodeficiency due to defect in MAPBP-interacting protein 610798 Q9Y2Q5 Dystonia, myoclonic 159900 P14416 Acrokeratosis verruciformis 101900 P16615 Caudal regression syndrome 600145 Q8TAA9 Pyruvate carboxylase deficiency 266150 P11498 Deafness, autosomal dominant 10 601316 O95677 {Renal cell carcinoma} 144700 P35680 Medullary thyroid carcinoma, familial 155240 P04629 Thrombophilia, X-linked, due to factor IX defect 300807 P00740 Woolly hair, autosomal recessive 1, with or without hypotrichosis 278150 P43657 Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency 612132 P25963 Heart block, nonprogressive 113900 Q14524 Cardiomyopathy, dilated, 1S 613426 P12883 Weissenbacher-Zweymuller syndrome 277610 P13942 Cleft palate, isolated 119540 P0CG47 Warsaw breakage syndrome 613398 Q96FC9 Leukodystrophy, hypomyelinating, 4 612233 P10809 Fanconi renotubular syndrome 2 613388 Q06495 Microcephalic osteodysplastic primordial dwarfism, type II 210720 O95613 [Sodium serum level QTL 1] 613508 Q9HBA0 Geroderma osteodysplasticum 231070 Q5T7V8 Bardet-Biedl syndrome 11 209900 Q13049 Bardet-Biedl syndrome 10 209900 Q8TAM1 Bardet-Biedl syndrome 13 209900 Q9NXB0 Bardet-Biedl syndrome 12 209900 Q6ZW61 Bardet-Biedl syndrome 15 209900 O95876 Bardet-Biedl syndrome 14 209900 O15078 Popliteal pterygium syndrome 119500 O14896 {Celiac disease, susceptibility to, 3} 609755 P16410 Cryptorchidism, idiopathic 219050 P51460 Hutchinson-Gilford progeria 176670 P02545 Muscular dystrophy, limb-girdle, type 1A 159000 Q9UBF9 Orthostatic intolerance 604715 P23975 Muscular dystrophy, limb-girdle, type 1B 159001 P02545 Nemaline myopathy, Amish type 605355 P13805 Loeys-Dietz syndrome, type 1B 610168 P37173 Timothy syndrome 601005 Q13936 Loeys-Dietz syndrome, type 1A 609192 P36897 Amyloidosis, Finnish type 105120 P06396 Cardiomyopathy, dilated, 1X 611615 O75072 Jervell and Lange-Nielsen syndrome 220400 P51787 [Hyperphenylalaninemia, non-PKU mild] 261600 P00439 Cardiomyopathy, dilated, 1Y 611878 P09493 Combined malonic and methylmalonic aciduria 614265 Q4G176 Premature ovarian failure 2B 300604 Q8WVV4 Partington syndrome 309510 Q96QS3 Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase 613752 P23526 Trichothiodystrophy, complementation group A 601675 Q6ZYL4 Neutropenia, severe congenital, X-linked 300299 P42768 Stickler sydrome, type I, nonsyndromic ocular 609508 P02458 Hypouricemia, renal 220150 Q96S37 Glycogen storage disease IV 232500 Q04446 Bradyopsia 608415 O75916,Q6ZS82 Maturity-onset diabetes of the young, type 11 613375 P51451 Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency 613470 P06744 Deafness, autosomal recessive 59 610220 Q0ZLH3 Dentin dysplasia, type II 125420 Q9NZW4 Heme oxygenase-1 deficiency 614034 P09601 Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III 613960 Q15080 Factor V and factor VIII, combined deficiency of 613625 Q8NI22 Osteogenesis imperfecta, type VII 610682 O75718 Boomerang dysplasia 112310 O75369 Glycogen storage disease II 232300 P10253 Osteosarcoma, somatic 259500 O96017,P06400 [Blood group, Yt system] 112100 P22303 Blau syndrome 186580 Q9HC29 Tuberous sclerosis-2 191100 P49815 Folate malabsorption, hereditary 229050 Q96NT5 Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation 611105 Q6PI48 Laron dwarfism 262500 P10912 Glycogen storage disease Ia 232200 P35575 Foveomacular dystrophy, adult-onset, with choroidal neovascularization 608161 P23942 Glycogen storage disease Ib 232220 O43826 Testicular microlithiasis 610441 O95436 CPT II deficiency, lethal neonatal 608836 P23786 Glomerulopathy with fibronectin deposits 2 601894 P02751 MODY, type III 600496 P20823 Hypoglycemia of infancy, leucine-sensitive 240800 Q09428 Pheochromocytoma 171300 O60333,P07949,P21912,O14521,P40337 MODY, type II 125851 P35557 [Low density lipoprotein cholesterol level QTL6] 613589 Q99523 MODY, type IV 606392 P52945 Factor XI deficiency, autosomal recessive 612416 P03951 Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations 613443 Q06413 Multiple mitochondrial dysfunctions syndrome 1 605711 Q9UMS0 Saethre-Chotzen syndrome with eyelid anomalies 101400 Q15672 Ehlers-Danlos syndrome, type VI 225400 Q02809 Retinitis pigmentosa 9 180104 Q8TA86 Colorectal cancer, somatic 109800 P22607,P31749,P25054,Q8NFG4,Q9UHC1,P42336 Nemaline myopathy 609285 P07951 Retinitis pigmentosa 1 180100 P56715 Retinitis pigmentosa 2 312600 O75695 Retinitis pigmentosa 3 300029 Q92834 Vitamin K-dependent coagulation defect 277450 P38435 Bosley-Salih-Alorainy syndrome 601536 P49639 Retinitis pigmentosa 7 608133 P23942 VLCAD deficiency 201475 P49748 {Hypertension, essential, susceptibility to} 145500 P01019,P42892,P16520 Leber congenital amaurosis 1 204000 Q02846 Arthrogryposis, lethal, with anterior horn cell disease 611890 Q53GS7 Robinow syndrome, autosomal recessive 268310 Q01974 Progressive external ophthalmoplegia, autosomal dominant 157640 P54098 Severe combined immunodeficiency with sensitivity to ionizing radiation 602450 P49917 Lipodystrophy, familial partial, type 4 613877 O60240 Lipodystrophy, familial partial, type 3 604367 P37231 {Asthma, susceptibility to, 1} 607277 Q13258 Cutis laxa, autosomal dominant 123700 Q9UBX5 Angioedema, hereditary, types I and II 106100 P05155 Corneal dystrophy, crystalline, of Schnyder 121800 Q9Y5Z9 Geleophysic dysplasia 2 614185 P35555 Cataract, Coppock-like 604307 P43320,P07315 Calcification of joints and arteries 211800 P21589 {Migraine, susceptibility to} 157300 P03372 Crigler-Najjar syndrome, type II 606785 P35504,P22309,O60656,Q9HAW8,Q9HAW9,P19224,P22310,P35503,Q9HAW7 Retinoblastoma 180200 P06400 Short stature 604271 P10912,Q92847 Spinal muscular atrophy, distal, autosomal recessive, 4 611067 O94827 Ataxia, posterior column, with retinitis pigmentosa 609033 Q9Y5Y0 {Malaria, cerebral, reduced risk of} 611162 P16671 Dementia, Lewy body 127750 P37840,Q16143 Erythrocyte lactate transporter defect 245340 P53985 Dystonia 6, torsion 602629 Q9NVV9 {Psoriasis, protection against} 605606 Q5VWK5 Waardenburg syndrome, type 1 193500 P23760 Fumarase deficiency 606812 P07954 Macular dystrophy, retinal, 2 608051 O43490 Arthrogryposis multiplex congenita, distal, type 1 108120 P07951 Bartter syndrome, type 4, digenic 602522 P51801 Atrial septal defect 6 613087 O43897 Atrial septal defect 5 612794 P68032 Acetyl-CoA carboxylase deficiency 613933 Q13085 Atrial septal defect 3 614089 P13533 Atrial septal defect 2 607941 P43694 {Lipodystrophy, partial, acquired, susceptibility to} 608709 Q03252 {Systemic lupus erythematosus, association with} 152700 Q8NDB2 Retinitis pigmentosa 49 613756 P29973 Retinitis pigmentosa 48 613827 Q9UMX6 Trichodontoosseous syndrome 190320 O60479 Retinitis pigmentosa 41 612095 O43490 Dysautonomia, familial 223900 O95163 Retinitis pigmentosa 42 612943 Q8IXQ5 Retinitis pigmentosa 45 613767 Q14028 Retinitis pigmentosa 44 613769 P47804 Diabetes insipidus, nephrogenic 125800 P41181,P30518 Xeroderma pigmentosum, group B 610651 P19447 Pick disease 172700 P10636,P49768 Deafness, autosomal recessive 84 613391 Q9UMZ3 Growth hormone deficiency, isolated, type II 173100 P01241 Growth hormone deficiency, isolated, type IA 262400 P01241 Growth hormone deficiency, isolated, type IB 612781 P01241,Q02643 Premature ovarian failure 300511 O60879 Trichothiodystrophy, nonphotosensitive 1 234050 Q8TAP9 {Malaria, cerebral, susceptibility to} 611162 P16671,P05362,P01375 {Macular degeneration, age-related, 10} 611488 O00206 {Autoimmune thyroid disease, susceptibility to, 3} 608175 Q9P243 Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg 254800 P04080 Gyrate atrophy of choroid and retina with or without ornithinemia 258870 P04181 HELLP syndrome, maternal, of pregnancy 609016 P40939 ADULT syndrome 103285 Q9H3D4 Choreoathetosis, hypothyroidism, and neonatal respiratory distress 610978 P43699 Adermatoglyphia 136000 Q9H4L7 Hyperphenylalaninemia, BH4-deficient, D 264070 P61457 Short stature, idiopathic familial 300582 O15266,O15266 Simpson-Golabi-Behmel syndrome, type 2 300209 O75665 Hyperphenylalaninemia, BH4-deficient, A 261640 Q03393 Hyperphenylalaninemia, BH4-deficient, C 261630 P09417 Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency 230450 P48506 Hailey-Hailey disease 169600 P98194 Keratosis, seborrheic, somatic 182000 P42336 C1s deficiency 613783 P09871 Desbuquois dysplasia 251450 Q8WVQ1 Deafness, digenic GJB2/GJB6 220290 O95452 Blue cone monochromacy 303700 P04000,P04001 [Skin/hair/eye pigmentation 7, blond/brown hair] 611664 P21583 Dubin-Johnson syndrome 237500 Q92887 Prion disease with protracted course 606688 P04156 Spinocerebellar ataxia 36 614153 O00567 Lacticacidemia due to PDX1 deficiency 245349 O00330 Deafness, autosomal dominant 36 606705 Q8TDI8 {Bulimia nervosa, age of onset of weight loss in} 607499 P23560 Alpha-ketoglutarate dehydrogenase deficiency 203740 Q02218 Manitoba oculotrichoanal syndrome 248450 Q5H8C1 Glycogen storage disease XII 611881 P04075 Parietal foramina with cleidocranial dysplasia 168550 P35548 Barth syndrome 302060 Q16635 {AIDS, rapid progression to} 609423 P01579 Apert syndrome 101200 P21802 Pyruvate dehydrogenase E1-beta deficiency 614111 P11177 {Hemolytic uremic syndrome, atypical, susceptibility to} 235400 Q03591,Q02985 Hydrocephalus with Hirschsprung disease 307000 P32004 Anterior segment mesenchymal dysgenesis 107250 Q13461,O75364 {Nonarteritic anterior ischemic optic neuropathy, susceptibility to} 258660 P07359 Xeroderma pigmentosum, group F 278760 Q92889 MASP2 deficiency 613791 O00187 Invasive pneumococcal disease, recurrent isolated, 1 610799 Q9NWZ3 C4B deficiency 614379 P0C0L5 {Microvascular complications of diabetes 2} 612623 P01588 Elliptocytosis-2 130600 P02549 Elliptocytosis-1 611804 P11171 [Hypoceruloplasminemia, hereditary] 604290 P00450 {Lung cancer susceptibility 2} 612052 P32297,P30532 Myotonia congenita, recessive 255700 P35523 von Willebrand disease, platelet-type 177820 P07359 Dystonia-1, torsion 128100 O14656 Epidermolytic hyperkeratosis 113800 P04264,P13645 Monilethrix 158000 Q14533,P78385,O43790 Night blindness, congenital stationary, X-linked, type 2A 300071 O60840 {Mycobacterium tuberculosis infection, protection against} 600263 P15260 Severe combined immunodeficiency, B cell-negative 601457 P15918,P55895 Meningioma 607174 Q10571 {Diabetes mellitus, noninsulin-dependent 1} 601283 Q9HC96 Deafness, autosomal dominant 3B 612643 O95452 Cold-induced sweating syndrome 1 610313 Q9UBD9 {Epilepsy, juvenile myoclonic, susceptibility to, 6} 607682 O00305 Deafness, autosomal dominant 3A 601544 P29033 Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type 608971 P16871 Neuropathy, hereditary sensory and autonomic, type V 608654 P01138 [Blood group, OK] 111380 P35613 Snowflake vitreoretinal degeneration 193230 O60928 Lipoid proteinosis 247100 Q16610 Hypophosphatemic rickets with hypercalciuria 241530 Q8N130 {Inflammatory bowel disease 10} 611081 Q676U5 {Thyroid carcinoma, Hurthle cell} 607464 Q9P0J0 Niemann-Pick disease, type C1 257220 O15118 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 608840 O95461 Immune dysfunction, with T-cell inactivation due to calcium entry defect 2 612783 Q13586 Xeroderma pigmentosum, group D 278730 P18074 Reticular dysgenesis 267500 P54819 Immunoglobulin A deficiency 2 609529 O14836 Mitochondrial complex 1 deficiency 252010 Q5TEU4 Spinal muscular atrophy-1 253300 Q16637 Spinal muscular atrophy-4 271150 Q16637 Neuropathy, hereditary sensory, with spastic paraplegia 256840 P48643 Cockayne syndrome, type B 133540 Q03468 Cockayne syndrome, type A 216400 Q13216 {Pheochromocytoma, modifier of} 171300 P39905 {Hepatitis B virus infection, susceptibility to} 610424 P15260 Mucolipidosis III gamma 252605 Q9UJJ9 Scapuloperoneal syndrome, neurogenic, Kaeser type 181400 P17661 Osteosclerosis 144750 O75197 Chondrodysplasia, Blomstrand type 215045 Q03431 [Kappa light chain deficiency] 614102 P01834 Conotruncal anomaly face syndrome 217095 O43435 {Parkinson disease 5, susceptibility to} 613643 P09936 Glycogen storage disease IIIa 232400 P35573 Glycogen storage disease IIIb 232400 P35573 Hyper-IgE recurrent infection syndrome 147060 P40763 {Pulmonary fibrosis, idiopathic, susceptibility to} 178500 Q9HC84,Q8IWL2 Cornea plana congenita, recessive 217300 O60938 Mental retardation, autosomal recessive 12 611090 Q11203 Candidiasis, familial, 5, autosomal recessive 613953 Q96F46 Mental retardation, autosomal recessive 15 614202 Q9UKM7 Mental retardation, autosomal recessive 14 614020 Q9NZ01 Pseudoxanthoma elasticum, forme fruste 177850 O95255 Mental retardation, autosomal recessive 18 614249 Q9ULK4 Bowen-Conradi syndrome 211180 Q92979 Keratitis-ichthyosis-deafness syndrome 148210 P29033 Dyggve-Melchior-Clausen disease 223800 Q7RTS9 Atypical mycobacteriosis, familial, X-linked 2 300645 P04839 Lethal congenital contractural syndrome 3 611369 O60331 Cerebral amyloid angiopathy 105150 P01034 Spinal muscular atrophy, X-linked 2, infantile 301830 P22314 Mental retardation, X-linked syndromic, Lubs type 300260 P51608 CINCA syndrome 607115 Q96P20 {Epilepsy, juvenile absence, susceptibility to, 1} 607631 Q5JVL4 Usher syndrome, type 2, GPR98/PDZD7 digenic 605472 Q8WXG9 Phosphoglycerate dehydrogenase deficiency 601815 O43175 {Epilepsy, juvenile myoclonic, susceptibility to} 613060 O14764 Somatostatin analog, resistance to 102200 P35346 Digital clubbing, isolated congenital 119900 P15428 Spinal muscular atrophy, distal, X-linked 3 300489 Q04656 Amyotrophic lateral sclerosis 8 608627 O95292 Amyotrophic lateral sclerosis 9 611895 P03950 Hypercholesterolemia, familial 143890 P01130 Medulloblastoma, desmoplastic 155255 Q9UMX1 {Myocardial infarction, decreased susceptibility to} 608446 P08709 {Coronary artery disease, autosomal dominant, 2} 610947 O75581 Carbamoylphosphate synthetase I deficiency 237300 P31327 Xeroderma pigmentosum, group A 278700 P23025 Hemolytic anemia due to glutathione synthetase deficiency 231900 P48637 Vohwinkel syndrome 124500 P29033 Omodysplasia 1 258315 Q9Y625 {Spina bifida, folate-sensitive, susceptibility to} 601634 P11586 Acatalasemia 614097 P04040 Baller-Gerold syndrome 218600 O94761 Mental retardation, joint hypermobility and skin laxity, with or without metabolic abnormalities 612652 P54886 Ornithine transcarbamylase deficiency 311250 P00480 Phenylketonuria 261600 P00439 Lujan-Fryns syndrome 309520 Q93074 Spondylocarpotarsal synostosis syndrome 272460 O75369 Huntington disease 143100 P42858 Hydrocephalus due to aqueductal stenosis 307000 P32004 Diabetes mellitus, transient neonatal, 3 610582 Q14654 Diabetes mellitus, transient neonatal, 1 601410 Q9NU63 Pontocerebellar hypoplasia type 2C 612390 Q9BSV6 Pontocerebellar hypoplasia type 2B 612389 Q8NCE0 Pontocerebellar hypoplasia type 2A 277470 Q7Z6J9 {Osteoporosis} 166710 P02452,O75197 Polymicrogyria, asymmetric 610031 Q9BVA1 Pontocerebellar hypoplasia type 2D 613811 Q9HD40 Lethal congenital contracture syndrome 1 253310 Q53GS7 {Bardet-Biedl syndrome 14, modifier of} 209900 Q5HYA8 [Blood group, Waldner] 112010 P02730 Deafness, autosomal recessive 42 609646 Q86SU0 Epidermolysis bullosa simplex, Ogna type 131950 Q15149 17-alpha-hydroxylase/17,20-lyase deficiency 202110 P05093 Dihydropyrimidinuria 222748 Q14117 Sandhoff disease, infantile, juvenile, and adult forms 268800 P07686 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis 607706 Q8TB36 Deafness, autosomal recessive 49 610153 Q8N4S9 [Gilbert syndrome] 143500 P35504,P22309,O60656,Q9HAW8,Q9HAW9,P19224,P22310,P35503,Q9HAW7 Nephronophthisis-like nephropathy 1 613159 Q9NQH7 Joubert syndrome 8 612291 Q3SXY8 Pontocerebellar hypoplasia type 1 607596 Q99986 {Centronuclear myopathy, autosomal, modifier of} 160150 Q8NCE2 Single median maxillary central incisor 147250 Q15465 Pontocerebellar hypoplasia, type 6 611523 Q5T160 Legius syndrome 611431 Q7Z699 [Skin/hair/eye pigmentation 10, blond/brown hair] 612267 Q8NHX9 Burkitt lymphoma 113970 P01106 Myopathy, reducing body, X-linked, severe early-onset 300717 Q13642 Oral-facial-digital syndrome 1 311200 O75665 Epilepsy with neurodevelopmental defects 613971 Q12879 Noonan syndrome 4 610733 Q07889 Kanzaki disease 609242 P17050 Noonan syndrome 7 613706 P15056 Atrial septal defect with atrioventricular conduction defects 108900 P52952 Tooth agenesis, selective, 4 150400 Q9GZT5 Tooth agenesis, selective, 6 613097 Q9NS15 Tooth agenesis, selective, 3 604625 P55771 {Microvascular complications of diabetes 4} 612628 P18510 Diabetes mellitus, gestational 125851 P35557 Mental retardation, X-linked 300495 Q8N0W4 Dowling-Degos disease 179850 P13647 CHARGE syndrome 214800 Q9P2D1,O15041 Vesicoureteral reflux 2 610878 Q9HCK4 Amyloidosis, hereditary, transthyretin-related 105210 P02766 Vesicoureteral reflux 3 613674 Q9H6I2 Geleophysic dysplasia 1 231050 Q86TH1 Diabetes mellitus, transient neonatal 2 610374 Q09428 Achondrogenesis, type IA 200600 Q15643 Deafness, autosomal recessive 30 607101 Q8NEV4 Nephronophthisis 1, juvenile 256100 O15259 {Osteoporosis, susceptibility to} 166710 P50479 {Hirschsprung disease, susceptibility to, 3} 613711 P39905 [Hereditary persistence of fetal hemoglobin] 613566 Q13351 Bare lymphocyte syndrome, type I, due to TAP2 deficiency 604571 Q03519 Alternating hemiplegia of childhood 104290 P50993 Leydig cell adenoma, somatic, with precocious puberty 176410 P22888 {Autism, susceptibility to, X-linked 5} 300847 P27635 Renal-hepatic-pancreatic dysplasia 208540 Q7Z494 Androgen insensitivity, partial, with or without breast cancer 312300 P10275 Inflammatory bowel disease 28, early onset, autosomal recessive 613148 Q13651 Dystonia, juvenile-onset 607371 P60709 Macular degeneration, juvenile 248200 Q9NQW8 {Tuberculosis, susceptibility to} 607948 Q9NSE2,P15260 Mental retardation syndrome, X-linked, Siderius type 300263 Q9UPP1 Heart block, progressive, type IA 113900 Q14524 Neutropenia, severe congenital 3, autosomal recessive 610738 O00165 {Asthma, susceptibility to, 2} 608584 Q6W5P4 {Asthma susceptibility 5} 611064 Q9Y616 Alveolar capillary dysplasia with misalignment of pulmonary veins 265380 Q12946 Mucopolysaccharidosis type IX 601492 Q12794 Leukemia, acute promyelocytic 612376 P10276 Neuroepithelioma 612219 Q01844 Mitochondrial complex II deficiency 252011 A6NFY7 McKusick-Kaufman syndrome 236700 Q9NPJ1 Xanthinuria, type I 278300 P47989 Retinal cone dystrophy 3B 610356 Q8TDN2 Spermatocytic seminoma, somatic 273300 P22607 {Macular degeneration, age-related, 12} 613784 P49238 Alpha-thalassemia myelodysplasia syndrome, somatic 300448 P46100 Obesity, hyperphagia, and developmental delay 613886 Q16620 Craniosynostosis and dental anomalies 614188 Q14626 Agammaglobulinemia and isolated hormone deficiency 307200 Q06187 Retinitis pigmentosa 55 613575 Q9H0F7 Cortical dysplasia, complex, with other brain malformations 614039 Q13509 Cardiomyopathy, dilated, 1AA 612158 P35609 Hepatoblastoma, somatic 114550 P25054 Mycobacterial and viral infections, susceptibility to, autosomal recessive 613796 P42224 Miyoshi muscular dystrophy 1 254130 O75923 Miyoshi muscular dystrophy 3 613319 Q75V66 Pontocerebellar hypoplasia type 4 225753 Q7Z6J9 Hyperparathyroidism, familial primary 145000 Q6P1J9 Epidermolysis bullosa, junctional, with pyloric stenosis 226730 P23229 Hypoplastic left heart syndrome 241550 P17302 Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome 225790 Q9UPI3 Brody myopathy 601003 O14983 Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia 300857 Q9UHD9 Erythrokeratodermia variabilis with erythema gyratum repens 133200 Q9NTQ9 Hyperfibrinolysis, familial, due to increased release of PLAT 612348 P00750 Retinitis pigmentosa 56 613581 Q9BZV3 Retinitis pigmentosa 57 613582 P18545 Immunodeficiency with hyper-IgM, type 3 606843 P25942 Immunodeficiency with hyper-IgM, type 2 605258 Q9GZX7 {Diabetes mellitus, insulin-dependent} 222100 P20823 Alagille syndrome 2 610205 Q04721 Corneal dystrophy, Thiel-Behnke type 602082 Q15582 Ectodermal dysplasia, ectrodactyly, and macular dystrophy 225280 P22223 Keratosis follicularis spinulosa decalvans 308800 P21673 Hematuria, benign familial 141200 Q01955 Mucopolysaccharidosis IVA 253000 P34059 Mosaic variegated aneuploidy syndrome 2 614114 Q86XR8 {Epilepsy, juvenile myoclonic, susceptibility to, 5} 611136 P14867 Phosphorylase kinase deficiency of liver and muscle, autosomal recessive 261750 Q93100 Night blindness, congenital stationary, type 1D 613830 O60721 Palmoplantar hyperkeratosis and true hermaphroditism 610644 Q2MKA7 Vertical talus, congenital 192950 P28358 Neutropenia, severe congenital 4, autosomal recessive 612541 Q9BUM1 Hypochondroplasia 146000 P22607 Thryoid dyshormonogenesis 6 607200 Q9NRD8 Retinitis pigmentosa 59 613861 Q86SQ9 Thrombophilia due to HRG deficiency 613116 P04196 {Malignant hyperthermia susceptibility 5} 601887 Q13698 Methylmalonate semialdehyde dehydrogenase deficiency 614105 Q02252 Keratosis palmoplantaris striata II 612908 P15924 Osteogenesis imperfecta, type IV 166220 P08123 Protoporphyria, erythropoietic, autosomal recessive 177000 P22830 Stickler syndrome, type III 184840 P13942 Thrombocytopenia, X-linked, intermittent 313900 P42768 Deafness, autosomal dominant 48 607841 Q9UBC5 Synpolydactyly, type II 186000 P35453 Spinocerebellar ataxia 17 607136 P20226 Spinocerebellar ataxia 14 605361 P05129 Spinocerebellar ataxia 15 606658 Q14643 Spinocerebellar ataxia 12 604326 Q00005 Factor V deficiency 227400 P12259 Gerstmann-Straussler disease 137440 P04156 Deafness, autosomal dominant 44 607453 Q8IVM0 Alpha-thalassemia/mental retardation syndrome 301040 P46100 Aicardi-Goutieres syndrome 4 610333 O75792 Aicardi-Goutieres syndrome 5 612952 Q9Y3Z3 Aicardi-Goutieres syndrome 2 610181 Q5TBB1 Aicardi-Goutieres syndrome 3 610329 Q8TDP1 Bleeding disorder, platelet-type, 11 614201 Q9HCN6 {Macular degeneration, age-related, 1} 603075 Q96RW7 {Myelodysplastic syndrome, susceptibility to} 614286 P23769 Central core disease 117000 P21817 Three M syndrome 3 614205 Q9H0W5 Gaucher disease, atypical 610539 P07602 Cerebral cavernous malformations-1 116860 O00522 Chorea, hereditary benign 118700 P43699 ACAD9 deficiency 611126 Q9H845 Witkop syndrome 189500 P28360 Congenital disorder of glycosylation, type Ih 608104 Q9BVK2 Congenital disorder of glycosylation, type Ii 607906 Q9H553 Congenital disorder of glycosylation, type Ij 608093 Q9H3H5 Congenital disorder of glycosylation, type Ik 608540 Q9BT22 Congenital disorder of glycosylation, type Il 608776 Q9H6U8 Congenital disorder of glycosylation, type Im 610768 Q9UPQ8 Congenital disorder of glycosylation, type In 612015 Q96AA3 Corpus callosum, partial agenesis of 304100 P32004 Congenital disorder of glycosylation, type Ia 212065 O15305 Congenital disorder of glycosylation, type Ib 602579 P34949 Congenital disorder of glycosylation, type Ic 603147 Q9Y672 Congenital disorder of glycosylation, type Id 601110 Q92685 Congenital disorder of glycosylation, type Ie 608799 O60762 Congenital disorder of glycosylation, type If 609180 O75352 Cataract, juvenile-onset 604219 Q13515 {Malaria, susceptibility to} 611162 Q9NSE2 Treacher Collins syndrome 1 154500 Q13428 {Macular degeneration, age-related, 4} 610698 P08603 Perry syndrome 168605 Q14203 De la Chapelle dysplasia 256050 P50443 Congenital disorder of glycosylation, type Iq 612379 Q9H8P0 Majeed syndrome 609628 Q92539 Ovarian response to FSH stimulation 276400 P23945 Ichthyosis histrix, Curth-Macklin Palmoplantar keratoderma, nonepidermolytic 600962 P04264 Adenosine triphosphate, elevated, of erythrocytes 102900 P30613 Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 604317 O43379 Gray platelet syndrome 139090 Q6ZNJ1 Tumoral calcinosis, familial, normophosphatemic 610455 Q5K651 Stocco dos Santos X-linked mental retardation syndrome 300434 Q9ULL8 Macrocytic anemia, refractory, due to 5q deletion, somatic 153550 P62263 Fish-eye disease 136120 P04180 Renal glucosuria 233100 P31639 Mental retardation, X-linked, syndromic 15 (Cabezas type 300354 Q13620 Dihydropyrimidine dehydrogenase deficiency 274270 Q12882 Arrhythmogenic right ventricular dysplasia 1 107970 P10600 Arrhythmogenic right ventricular dysplasia 2 600996 Q92736 Arrhythmogenic right ventricular dysplasia 5 604400 P08865,Q9BTV4 Arrhythmogenic right ventricular dysplasia 9 609040 Q99959 Arrhythmogenic right ventricular dysplasia 8 607450 P15924 Cataract, lamellar 2 610425 P53673 Metachondromatosis 156250 Q06124 Globozoospermia 102530 Q9HD26 Goldberg-Shprintzen megacolon syndrome 609460 Q96EK5 Nonsmall cell lung cancer, somatic 211980 P10914,P42336 Bamforth-Lazarus syndrome 241850 O00358 Arthrogryposis, distal, type 2B 601680 P11055,P07951 Arthrogryposis, distal, type 2A 193700 P11055 17-beta-hydroxysteroid dehydrogenase X deficiency 300438 Q99714 Hereditary motor and sensory neuropathy VI 601152 O95140 {Malaria, protection against} 611162 P58753 Acheiropody 200500 Q8WVP7 Neurofibromatosis, familial spinal 162210 P21359 Immunodeficiency, X-linked, with hyper-IgM 308230 P29965 {Diabetes, type 2, susceptibility to} 125853 P43304 Microphthalmia with limb anomalies 206920 Q9H4F8 Giant platelet disorder, isolated 231200 P13224 Lissencephaly 4 (with microcephaly 614019 Q9NXR1 Choroideremia 303100 P24386 Acrocallosal syndrome 200990 Q2M1P5 46XY partial gonadal dysgenesis, with minifascicular neuropathy 607080 O43323 {HFE hemochromatosis, modifier of} 235200 P12643 Adams-Oliver syndrome 2 614219 Q96HP0 Sialuria 269921 Q9Y223 Peutz-Jeghers syndrome 175200 Q15831 Neuropathy, congenital hypomyelinating, 1 605253 P11161 Perrault syndrome 233400 P51659 Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency 608931 P11230,Q04844,O15146,Q13702 Cardiomyopathy, dilated 115200 Q14896 [Novelty seeking personality] 601696 P21917 Meckel syndrome 7 267010 Q7Z494 Ventricular fibrillation, familial, 1 603829 Q14524 Li-Fraumeni syndrome 151623 Q8N726,P42771,P04637,O96017 Townes-Brocks branchiootorenal-like syndrome 107480 Q9NSC2 Microphthalmia with coloboma 6 613703 Q9NR23 Microphthalmia with coloboma 5 611638 Q15465 Meckel syndrome 9 614209 Q9UPM9 CD8 deficiency, familial 608957 P01732 {Hepatitis B virus, susceptibility to} 610424 Q08334,P48551 {UV-induced skin damage} 266300 Q01726 Netherton syndrome 256500 Q9NQ38 Pituitary adenoma, ACTH-secreting 219090 O00170 Amelogenesis imperfecta and gingival fibromatosis syndrome 614253 Q96MK3 Guttmacher syndrome 176305 P31271 Muir-Torre syndrome 158320 P40692,P43246 Retinitis pigmentosa-12, autosomal recessive 600105 P82279 Brain small vessel disease with Axenfeld-Rieger anomaly 607595 P02462 Hypouricemia, renal, 2 612076 Q9NRM0 Noonan syndrome 1 163950 Q06124 Iron-refractory iron deficiency anemia 206200 Q8IU80 [Transferrin serum level QTL2] 614193 Q30201 MODY, type I 125850 P41235 [High density lipoprotein cholesterol level QTL 12] 612797 P11150 Trichothiodystrophy 601675 P18074,P19447 {West nile virus, susceptibility to} 610379 P51681 Ehlers-Danlos syndrome, type I 130000 P02452,P20908,P05997 {Exfoliation syndrome, susceptibility to} 177650 Q08397 Ehlers-Danlos syndrome, autosomal recessive, due to tenascin X deficiency 606408 Q16473,P22105 Atelosteogenesis, type III 108721 O75369 Diarrhea 4, malabsorptive, congenital 610370 Q9Y4Z2 Muscular dystrophy, limb-girdle, type 2Q 613723 Q15149 Cataract-microcornea syndrome 116150 P48165 Epidermolysis bullosa simplex with mottled pigmentation 131960 P13647 Cystathioninuria 219500 P32929 Epidermolysis bullosa, lethal acantholytic 609638 P15924 Leukemia, acute lymphocytic 613065 P11274 Incontinentia pigmenti, type II 308300 Q9Y6K9 Psoriasis, generalized pustular 614204 Q9UBH0 {Macular degeneration, age-related, 8} 613778 P0C7Q2 Pneumothorax, primary spontaneous 173600 Q8NFG4 Hypertension, essential 145500 P11086,P30556,Q16647 Nephrotic syndrome, type 1 256300 O60500 Nephrotic syndrome, type 3 610725 Q9P212 Nephrotic syndrome, type 2 600995 Q9NP85 Nephrotic syndrome, type 4 256370 P19544 Clopidogrel, impaired responsiveness to 609535 P33261 Nephrotic syndrome, type 6 614196 Q16827 Deafness, autosomal recessive 77 613079 Q8IVV2 Deafness, autosomal recessive 74 613718 Q8IXL7 Spastic paraplegia, 44 613206 Q5T442 Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy 125250 O60313 Waardenburg syndrome, type 4B 613265 P14138 Encephalopathy, neonatal severe 300673 P51608 Deafness, autosomal recessive 79 613307 Q4KMQ1 Muscular dystrophy, congenital, due to ITGA7 deficiency 613204 Q13683 {Asperger syndrome susceptibility, X-linked 1} 300494 Q9NZ94 3-beta-hydroxysteroid dehydrogenase, type II, deficiency 201810 P26439 Harderoporphyria 121300 P36551 {Migraine, with or without aura, susceptibility to, 13} 613656 Q7Z418 Megaloblastic anemia due to dihydrofolate reductase deficiency 613839 P00374 Hypotrichosis and recurrent skin vesicles 613102 Q14574 Barrett esophagus/esophageal adenocarcinoma 614266 Q8N9N2,Q96CG8,P21757 Mental retardation, X-linked 93 300659 Q6RI45 Otofaciocervical syndrome 166780 Q99502 HMG-CoA synthase-2 deficiency 605911 P54868 {Long QT syndrome 1, acquired, susceptibility to} 192500 P51787 Spinocerebellar ataxia 13 605259 Q14003 Maturity-onset diabetes of the young, type VII 610508 O14901 Mental retardation, X-linked 91 300577 Q96MV8 Spinocerebellar ataxia 10 603516 Q9UBB4 Cardiomyopathy, hypertrophic, midventricular, digenic 192600 Q9H1R3 Amyotrophic lateral sclerosis 4, juvenile 602433 Q7Z333 Spinocerebellar ataxia 11 604432 Q6IQ55 Macular dystrophy, autosomal dominant, chromosome 6-linked 600110 Q9GZR5 Currarino syndrome 176450 P50219 {Systemic lupus erythematosus, susceptibility to, 10} 612251 Q13568 Osteoporosis-pseudoglioma syndrome 259770 O75197 Myopathy, early-onset, with fatal cardiomyopathy 611705 Q8WZ42 {Schizophrenia, susceptibility to} 603013 Q02297,P31749,P36222,P21964,P35462,Q9BXB1,P28223,P42898,Q9BZR6,Q92777,Q9NRI5 Tn syndrome 300622 Q96EU7 Cholestasis, progressive familial intrahepatic 1 211600 O43520 Cholestasis, progressive familial intrahepatic 2 601847 O95342 Cholestasis, progressive familial intrahepatic 3 602347 P21439 Cholestasis, progressive familial intrahepatic 4 607765 Q9H2F3 Adenocarcinoma of lung, somatic 211980 P15056,P04626,O60260 Colorblindness, deutan 303800 P04001 Agammaglobulinemia 1 601495 P01871 Agammaglobulinemia 2 613500 P15814 Agammaglobulinemia 3 613501 P11912 Agammaglobulinemia 4 613502 Q8WV28 Agammaglobulinemia 5 613506 Q8IWT6 Agammaglobulinemia 6 612692 P40259 WHIM syndrome 193670 P61073 Zellweger syndrome 214100 O60683,Q92968,O75381,P40855,Q7Z412,P50542 Kallmann syndrome 2 147950 P11362 Mental retardation, X-linked syndromic, Nascimento-type 300860 P49459 Charcot-Marie-Tooth disease, type 1F 607734 P07196 Charcot-Marie-Tooth disease, type 1E 118300 Q01453 Charcot-Marie-Tooth disease, type 1D 607678 P11161 Charcot-Marie-Tooth disease, type 1C 601098 Q99732 Fibromatosis, juvenile hyaline 228600 P58335 Charcot-Marie-Tooth disease, type 1A 118220 Q01453 Muscular dystrophy, limb-girdle, type 2H 254110 Q13049 Desmosterolosis 602398 Q15392 Achondrogenesis, type II or hypochondrogenesis 200610 P02458 Chronic granulomatous disease due to deficiency of NCF-2 233710 P19878 Muscular dystrophy, limb-girdle, type 2J 608807 Q8WZ42 Hypoparathyroidism-retardation-dysmorphism syndrome 241410 Q15813 Chronic granulomatous disease due to deficiency of NCF-1 233700 P14598 Microcephaly, primary autosomal recessive, 4 604321 O94986 Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia 240300 O43918 Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency 201910 P08686 Microcephaly, primary autosomal recessive, 7 612703 Q15468 Sjogren-Larsson syndrome 270200 P51648 Microcephaly, primary autosomal recessive, 1 251200 Q8NEM0 Microcephaly, primary autosomal recessive, 3 604804 Q96SN8 Mucopolysaccharidosis Ih/s 607015 P35475 {Alcoholism, susceptibility to} 103780 P00325,P47869 Amyloidosis, hereditary renal 105200 P02671 Epidermolysis bullosa simplex, recessive 601001 P02533 Lymphoma, non-Hodgkin, somatic 605027 Q92698 {AIDS, delayed/rapid progression to} 609423 P43629,Q14943 Mucopolysaccharidisis type IIIA (Sanfilippo A 252900 P51688 Parkinson disease 13 610297 O43464 Orofacial cleft 8 129400 Q9H3D4 Orofacial cleft 7 225060 Q15223 Carney complex, type 1 160980 P10644 Orofacial cleft 5 608874 P28360 Breast cancer 114480 O15297,P04637 Trifunctional protein deficiency 609015 P40939,P55084 {Atopy, resistance to} 147050 Q96D42 {Thrombophilia, susceptibility to, due to antithrombin III deficiency} 613118 P01008 {Obesity, susceptibility to, BMIQ11} 300306 Q9UN76 Hypercarotenemia and vitamin A deficiency, autosomal dominant 115300 Q9HAY6 Atrichia with papular lesions 209500 O43593 Cystinosis, ocular nonnephropathic 219750 O60931 Speech-language disorder-1 602081 O15409 Ectodermal dysplasia, hypohidrotic, autosomal recessive 224900 Q9UNE0 Sialic acid storage disorder, infantile 269920 Q9NRA2 Cytochrome c oxidase deficiency 220110 P14854 {Epilepsy, childhood absence, susceptibility to, 6} 611942 O95180 Amyotrophy, hereditary neuralgic 162100 Q9UHD8 Borjeson-Forssman-Lehmann syndrome 301900 Q8IWS0 Cataract, nonnuclear polymorphic congenital 601286 P07320 Retinitis pigmentosa, juvenile, autosomal recessive 268000 Q9P0W8 Ribose 5-phosphate isomerase deficiency 608611 P49247 Cerebral cavernous malformations-2 603284 Q9BSQ5 Rothmund-Thomson syndrome 268400 O94761 Severe combined immunodeficiency, X-linked 300400 P31785 Spondylocostal dysostosis, autosomal recessive, 1 277300 Q9NYJ7 Anxiety-related personality traits 607834 P31645 Epilepsy, pyridoxine-dependent 266100 P49419 Hermansky-pudlak syndrome 9 614171 Q9UL45 Retinitis pigmentosa 25 602772 Q5T1H1 Retinitis pigmentosa 28 606068 Q3B820 Septooptic dysplasia 182230 Q9UBX0 Facial clefting, oblique, 1 600251 Q69YQ0 Torg-Winchester syndrome 259600 P08253 {Thyroid carcinoma, follicular, somatic} 188470 P01112 Supranuclear palsy, progressive 601104 P10636 Nystagmus 6, congenital, X-linked 300814 P51810 RAPADILINO syndrome 266280 O94761 Duane retraction syndrome 2 604356 P15882 {Breast cancer, susceptibility to} 114480 Q13315,Q99728,O96017,O75330,Q86YC2,P35232,Q06609 Renal cell carcinoma, papillary, familial and somatic 605074 P08581 Retinoblastoma, trilateral 180200 P06400 Myopathy, reducing body, X-linked, childhood-onset 300718 Q13642 Neurodegeneration due to cerebral folate transport deficiency 613068 P15328 Hypophosphatemic rickets 300554 P51795 Triphalangeal thumb-polysyndactyly syndrome 174500 Q8WVP7 [Fasting plasma glucose level QTL 5] 613463 Q14397 Isovaleric acidemia 243500 P26440 Hemophilia A 306700 P00451 Hemophilia B 306900 P00740 Brachyolmia type 3 113500 Q9HBA0 {Breast cancer susceptibility} 114480 P16083 [Blood group, Colton] 110450 P29972 {Thyrotoxic periodic paralysis, susceptibility to, 1} 188580 Q13698 Mucopolysaccharidosis Ih 607014 P35475 Night blindness, congenital stationary, autosomal dominant 3 610444 P11488 Night blindness, congenital stationary, autosomal dominant 2 163500 P35913 Mucopolysaccharidosis Is 607016 P35475 [Blood group, Froese] 601551 P02730 Hypothyroidism, congenital nongoitrous, 5 225250 P52952 Esophageal cancer 133239 Q9Y238 {Autoimmune thyroid disease, susceptibility to 3} 608175 P01266 Mental retardation, X-linked, syndromic 13 300055 P51608 Exostoses, multiple, type 2 133701 Q93063 Usher syndrome, type 1D/F digenic 601067 Q9H251,Q96QU1 Spinocerebellar ataxia 28 610246 Q9Y4W6 {Pulmonary fibrosis,idiopathic, susceptibility to} 178500 O14746 Cystinuria 220100 Q07837,P82251 Hypophosphatemic rickets, X-linked dominant 307800 P78562 Ichthyosis with confetti 609165 P13645 Atrial fibrillation, familial, 9 613980 P63252 Atrial fibrillation, familial, 7 612240 P22460 Atrial fibrillation, familial, 6 612201 P01160 Mucopolysaccharidosis II 309900 P22304 Congenital disorder of glycosylation, type Io 612937 Q9P2X0 Atrial fibrillation, familial, 3 607554 P51787 Adenocarcinoma of lung, response to tyrosine kinase inhibitor in 211980 P00533 Cataract, age-related cortical, 2 613020 P29317 Tumor predisposition syndrome 614327 Q92560 Neuropathy, hereditary sensory and autonomic, type IC 613640 O15270 Hemoglobin H disease, nondeletional 613978 P69905,P69905 C9 deficiency with dermatomyositis 613825 P02748 Mental retardation, X-linked 72 300271 Q96DA2 Emery-Dreifuss muscular dystrophy 2, AD 181350 P02545 Neuropathy, hereditary sensory and autonomic, type II 201300 Q9H4A3 {Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1, susceptibility to} 105500 Q96QT4 {Insulin resistance, susceptibility to} 125853 P18031 Naxos disease 601214 P14923 Generalized epilepsy and paroxysmal dyskinesia 609446 Q12791 Sea-blue histiocyte disease 269600 P02649 Mannosidosis, alpha-, types I and II 248500 O00754 Alzheimer disease, type 3, with spastic paraparesis and unusual plaques 607822 P49768 [Skin/hair/eye pigmentation 1, blond/brown hair] 227220 O95714,Q04671 SESAME syndrome 612780 P78508 {Alzheimer disease, late-onset, susceptibility to} 104300 P29474,P00749 Cranioectodermal dysplasia 4 614378 Q8NEZ3 Cranioectodermal dysplasia 2 613610 Q9P2L0 Cranioectodermal dysplasia 3 614099 Q96FT9 Mitochondrial DNA depletion syndrome 7 (hepatocerebral type 271245 Q96RR1 {Amyotrophic lateral sclerosis, susceptibility to} 105400 Q14203,P12036,P41219 Angelman syndrome-like 105830 O76039 Plamoplantar keratoderma, epidermolytic 144200 P04264 Epiphyseal dysplasia, multiple, 5 607078 O15232 Congenital disorder of glycosylation, type Ig 607143 Q9BV10 Tooth agenesis, selective, X-linked 1 313500 Q92838 Carotid intimal medial thickness 1 609338 P37231 Glaucoma, primary open angle, adult-onset 137760 Q16678 Diabetes mellitus, insulin-resistant, with acanthosis nigricans 610549 P06213 Piebaldism 172800 O43623 {Hypertriglyceridemia, susceptibility to} 145750 Q6Q788,Q6XZB0,P56715 C7 deficiency 610102 P10643 Branchiooculofacial syndrome 113620 P05549 Diarrhea 3, secretory sodium, congenital, syndromic 270420 O43291 Sorsby fundus dystrophy 136900 P35625 Lipoid adrenal hyperplasia 201710 P49675 Thrombotic thrombocytopenic purpura, familial 274150 Q76LX8 C8 deficiency, type I 613790 P07357 [Blood group, Auberger system] 111200 P50895 Immunodeficiency-centromeric instability-facial anomalies syndrome 1 242860 Q9UBC3 Heinz body anemia 140700 P69905 N-acetylaspartate deficiency 614063 Q8N9F0 Fanconi anemia, complementation group D1 605724 P51587 Fanconi anemia, complementation group D2 227646 Q9BXW9 {Lumbar disc herniation, susceptibility to} 603932 P12107,P35442 Epilepsy, progressive myoclonic 2A (Lafora 254780 O95278 Parkes Weber slndrome 608355 P20936 Congenital disorder of glycosylation, type Ip 613661 Q2TAA5 Sulfite oxidase deficiency 272300 P51687 Cystinosis, late-onset juvenile or adolescent nephropathic 219900 O60931 Spermatogenic failure 9 613958 Q6NUT2 Spermatogenic failure 4 270960 Q8IZU3 Spermatogenic failure 5 243060 Q9UQB9 Spermatogenic failure 6 102530 Q9BXB7 Cholesteryl ester storage disease 278000 P38571 Carpal tunnel syndrome, familial 115430 P02766 Myopathy, centronuclear, autosomal recessive 255200 O00499 {Porphyria cutanea tarda, susceptibility to} 176100 Q30201 Tay-Sachs disease 272800 P06865 Chloride diarrhea, congenital, Finnish type 214700 P40879 Tietz albinism-deafness syndrome 103500 O75030 Epidermolysis bullosa, junctional, with pyloric atresia 226730 P16144 Retinitis pigmentosa-50 613194 O76090 Gastrointestinal stromal tumor 606764 P21912,Q99643 BCG and salmonella infection, disseminated 209950 P29460 Rhabdoid tumor predisposition syndrome 2 613325 P51532 Glycine N-methyltransferase deficiency 606664 Q14749 {Multiple sclerosis, disease progression, modifier of} 126200 Q15116 Night blindness, congenital stationery, autosomal dominant 1 610445 P08100 Tarsal-carpal coalition syndrome 186570 Q13253 Rickets due to defect in vitamin D 25-hydroxylation 600081 Q6VVX0 Mental retardation, autosomal dominant 11 614257 Q9H4G0 Malignant melanoma, somatic 155600 P60484 Mowat-Wilson syndrome 235730 O60315 Adenocarcinoma, ovarian, somatic 167000 O60260 {Pancreatic cancer, susceptibility to, 4} 614320 P38398 {Seasonal affective disorder, susceptibility to} 608516 P28223 Spondyloepiphyseal dysplasia tarda with progressive arthropathy 208230 O95389 Amyotrophic lateral sclerosis 6, autosomal recessive, with or without frontotemporal dementia 608030 P35637 Stickler syndrome, type I 108300 P02458 Autoimmune lymphoproliferative syndrome, type IA 601859 P25445 Spinal muscular atrophy, late-onset, Finkel type 182980 O95292 {Macular degeneration, age-related, susceptibility to 5} 613761 Q03468 Glycine encephalopathy 605899 P48728,P23434,P23378 {Obesity, severe, and type II diabetes} 601665 P55916 Autoimmune lymphoproliferative syndrome, type II 603909 Q92851 {Malignant hyperthermia susceptibility 1} 145600 P21817 Atrioventricular septal defect 3 600309 P17302 Panhypopituitarism, X-linked 312000 P41225 Multiple endocrine neoplasia IIB 162300 P07949 Multiple endocrine neoplasia IIA 171400 P07949 {Pancreatic cancer, susceptibility to, 3} 613348 Q86YC2 Glanzmann thrombasthenia 273800 P08514,P05106 Lymphangioleiomyomatosis 606690 Q92574 Mental retardation, X-linked 88 300852 P50052 Leber congenital amaurosis 10 611755 O15078 Leber congenital amaurosis 11 613837 P20839 Leber congenital amaurosis 12 610612 Q7Z3Z2 Leber congenital amaurosis 13 612712 Q96NR8 Leber congenital amaurosis 14 613341 O95237 Leber congenital amaurosis 15 613843 O00294 Leber congenital amaurosis 16 614186 O60928 Alzheimer disease 1, familial 104300 P05067 Hypocalciuric hypercalcemia, type I 145980 P41180 Mental retardation, autosomal dominant 3 612580 P55291 Mental retardation, autosomal dominant 2 614113 Q8NF50 Mental retardation, autosomal dominant 5 612621 Q96PV0 Mental retardation, autosomal dominant 4 612581 Q8IZU9 Mental retardation, autosomal dominant 7 614104 Q13627 Mental retardation, autosomal dominant 6 613970 Q13224 Pulmonary alveolar microlithiasis 265100 O95436 [Skin/hair/eye pigmentation 9, dark/light hair] 611742 P42127 Cowden-like syndrome 612359 P21912,O14521 {Glomerulosclerosis, focal segmental, 4, susceptibility to} 612551 O14791 Mitochondrial complex IV deficiency 220110 Q86WW8,Q9NYY8 Weill-Marchesani syndrome 2, dominant 608328 P35555 Tyrosinemia, type II 276600 P17735 Achalasia-addisonianism-alacrimia syndrome 231550 Q9NRG9 Deafness, autosomal recessive 8, childhood onset 601072 P57727 D-glyceric aciduria 220120 Q8IVS8 Cataract, congenital 604219 Q13515 [Skin/hair/eye pigmentation 6, blue/green eyes] 210750 Q8NFF2 {Thromboembolism, susceptibility to} 188050 P42898 Charcot-Marie-Tooth disease, type 2B 600882 P51149 Triphalangeal thumb, type I 174500 Q8WVP7 Miller syndrome 264750 Q02127 Charcot-Marie-Tooth disease, type 2D 601472 P41250 Charcot-Marie-Tooth disease, type 2E 607684 P07196 Charcot-Marie-Tooth disease, type 2J 607736 P25189 Conjunctivitis, ligneous 217090 P00747 Charcot-Marie-Tooth disease, type 2I 607677 P25189 Fuhrmann syndrome 228930 O00755 Growth hormone deficiency with pituitary anomalies 182230 Q9UBX0 Transient bullous of the newborn 131705 Q02388 Medullary thyroid carcinoma 155240 P07949 Tibial muscular dystrophy, tardive 600334 Q8WZ42 Mental retardation and microcephaly with pontine and cerebellar hypoplasia 300749 O14936 {Diabetes mellitus, insulin-dependent, 22} 612522 P51681 {Hypertension, salt-sensitive essential, susceptibility to} 145500 P20815 Skeletal defects, genital hypoplasia, and mental retardation 612447 Q05516 Atransferrinemia 209300 P02787 Larsen syndrome 150250 O75369 Deafness, autosomal recessive 61 613865 P58743 Townes-Brocks syndrome 107480 Q9NSC2 Deafness, autosomal recessive 63 611451 Q96E66,Q8WZ04 Deafness, autosomal recessive 67 610265 Q8TAF8 von Willibrand disease, type 3 277480 P04275 Supranuclear palsy, progressive atypical 260540 P10636 Hemolytic anemia due to hexokinase deficiency 235700 P19367 Congenital cataracts, facial dysmorphism, and neuropathy 604168 Q9Y5B0 Deafness, autosomal recessive 12 601386 Q9H251 Migraine, familial hemiplegic, 1 141500 O00555 Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency 610842 P38435 Retinitis punctata albescens 136880 P23942,P08100,P12271 Pituitary hormone deficiency, combined, 1 613038 P28069 Pituitary hormone deficiency, combined, 2 262600 O75360 Pituitary hormone deficiency, combined, 3 221750 Q9UBR4 Pituitary hormone deficiency, combined, 4 262700 Q969G2 Encephalopathy, familial, with neuroserpin inclusion bodies 604218 Q99574 Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 606612 Q9H9S5 OI type III 259420 P02452 Osteopetrosis, autosomal recessive 4 611490 P51798 Ectodermal dysplasia, 'pure' hair-nail type 602032 P78386 Holoprosencephaly-9 610829 P10070 {Systemic lupus erythematosus, susceptibility to, 9} 610927 P20023 Trichoepithelioma, multiple familial, 1 601606 Q9NQC7 {Coronary artery disease in familial hypercholesterolemia, protection against} 143890 O95477 Ichthyosis prematurity syndrome 608649 Q6P1M0 Microphthalmia, syndromic 9 601186 Q9BX79 {Hypertension, diastolic, resistance to} 608622 Q16558 {Systemic lupus erythematosus, susceptibility to} 152700 P24855,P31994,Q9NSU2 Corneal fleck dystrophy 121850 Q9Y2I7 Spastic paraplegia-11 604360 Q96JI7 Microphthalmia, syndromic 7 309801 P53701 Microphthalmia, syndromic 6 607932 P12644 Microphthalmia, syndromic 3 206900 P48431 Microphthalmia, syndromic 2 300166 Q6W2J9 Thyroid carcinoma, follicular, somatic 188470 P60484 Plasma fibronectin deficiency 614101 P02751 Hypoalphalipoproteinemia 604091 P02647 Microvillus inclusion disease 251850 Q9ULV0 Wolfram-like syndrome, autosomal dominant 614296 O76024 {Malaria, severe, resistance to} 611162 P17927 Pseudoachondroplasia 177170 P49747 Pituitary adenoma, growth hormone-secreting 102200 O00170 van der Woude syndrome 119300 O14896 {Colorectal cancer} 114500 P14555 Anemia, hypochromic microcytic 206100 P49281 Holoprosencephaly-2 157170 O95343 {Medulloblastoma} 155255 P51587 Roussy-Levy syndrome 180800 P25189,Q01453 Charcot-Marie-Tooth disease, X-linked recessive, 5 311070 P60891 Renal tubular acidosis, distal, autosomal recessive 602722 Q9HBG4 Mirror movements, congenital 157600 P43146 Hyperekplexia 149400 Q9NQX3,Q9Y345 Brugada syndrome 1 601144 Q14524 17,20-lyase deficiency, isolated 202110 P05093 Macular corneal dystrophy 217800 Q9GZX3 Crouzon syndrome 123500 P21802 Methemoglobinemia, type IV 250790 P00167 Axenfeld-Rieger syndrome, type 1 180500 Q99697 Neuropathy, recurrent, with pressure palsies 162500 Q01453 Axenfeld-Rieger syndrome, type 3 602482 Q12948 Trichorhinophalangeal syndrome, type I 190350 Q9UHF7 {Intracranial hemorrhage in brain cerebrovascular malformations, susceptibility to} 108010 P05231 Ciliary dyskinesia, primary, 9, with or without situs inversus 612444 Q9GZS0 Fundus albipunctatus 136880 Q92781,P12271 Spastic paraplegia-7 607259 Q9UQ90 Hyperekplexia, autosomal recessive 149400 P48167 Factor XI deficiency, autosomal dominant 612416 P03951 Hypophosphatasia, adult 146300 P05186 Tyrosinemia, type I 276700 P16930 Buschke-Ollendorff syndrome 166700 Q9Y2U8 Parietal foramina 1 168500 P35548 Osteogenesis imperfecta, type VIII 610915 Q32P28 Eosinophil peroxidase deficiency 261500 P11678 Ocular albinism, type I, Nettleship-Falls type 300500 P51810 Self-healing collodion baby 242300 P22735 [Protein Z deficiency] 614024 P22891 Homocystinuria due to MTHFR deficiency 236250 P42898 Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant 610003 Q9UBY8 Chromosome 22q13.3 deletion syndrome 606232 Q9BYB0 Bjornstad syndrome 262000 Q9Y276 {Rheumatoid arthritis, susceptibility to} 180300 Q9BZW8,P13760,Q5Y7A7,Q9TQE0,P20039,Q9GIY3,P01911,P01912,Q29974,P04229,P13761,Q30167,O02867,Q30134,P33076,Q9UBC1,Q9UM07,Q9Y2R2,Q9H015 Leigh syndrome 256000 Q9Y276,P09622,O95299,Q8N183,O75489,O43181,O75251,O00217,P31040 Cardiomyopathy, dilated, 1CC 613122 Q0ZGT2 Nestor-Guillermo progeria syndrome 614008 O75531 {Major affective disorder-7, susceptibility to} 612371 P17861 Tumoral calcinosis, hyperphosphatemic 211900 Q9UEF7 {Lumbar disc disease, susceptibility to} 603932 O75339 {Stevens-Johnson syndrome, susceptibility to} 608579 P30461,P30498,P30484,P30491,P03989,P30487,P30475,P30480,P18464,P30460,Q31612,Q29940,P18465,P30492,P30490,P30493,Q04826,P30483,P18463,P30466,P30464,Q29718,P30462,Q31610,P30495,P30481,P30485,P30488,P01889,Q29836,P30685,P10319,O02950,O02874,P30479,Q95365,P30486,O19189 {Microvascular complications of diabetes 3} 612624 P12821 Melnick-Needles syndrome 309350 P21333 Kniest dysplasia 156550 P02458 Paroxysmal nocturnal hemoglobinuria, somatic 300818 P37287 Dejerine-Sottas disease 145900 P11161,P25189,Q01453 Retinitis pigmentosa 30 607921 O14926 Retinitis pigmentosa 31 609923 Q9NS56 Crigler-Najjar syndrome, type I 218800 P35504,P22309,O60656,Q9HAW8,Q9HAW9,P19224,P22310,P35503,Q9HAW7 Retinitis pigmentosa 33 610359 O75643 Retinitis pigmentosa 35 610282 Q9H3S1 Osteochondritis dissecans, short stature, and early-onset osteoarthritis 165800 P16112 Ehlers-Danlos syndrome, progeroid form 130070 Q9UBV7 Retinitis pigmentosa 38 613862 Q12866 Retinitis pigmentosa 39 613809 O75445 Fazio-Londe disease 211500 Q9NQ40 Otopalatodigital syndrome, type I 311300 P21333 Thyroid dyshormonogenesis 2A 274500 P07202 Otospondylomegaepiphyseal dysplasia 215150 P13942,P02458 {Bronchiectasis with or without elevated sweat chloride 1, modifier of} 211400 P13569 Orotic aciduria 258900 P11172 Microcephaly, Amish type 607196 Q9HC21 Amelogenesis imperfecta, hypoplastic/hypomaturation type 1E 301200 Q99217 Retinal dystrophy, early-onset, and pituitary dysfunction 610125 P32243 Thyroid hormone resistance, autosomal recessive 274300 P10828 Seckel syndrome 1 210600 Q13535 Nephronophthisis 3 604387 Q7Z494 {Microvascular complications of diabetes 7} 612635 Q30201 Lymphedema-distichiasis syndrome 153400 Q99958 Nephronophthisis 7 611498 Q9BZE0 {Asthma, susceptibility to} 600807 P17693,P51671,P50135,P29460,P35225,Q13093,P11684,Q96PL1,P01375 Nephronophthisis 9 613824 Q86SG6 Neuropathy, hereditary sensory, type ID 613708 Q8WXF7 SMED Strudwick type 184250 P02458 Holoprosencephaly 11 614226 Q4KMG0 Myopia, high, with cataract and vitreoretinal degeneration 614292 Q8IVL5 Hypereosinophilic syndrome, idiopathic, resistant to imatinib 607685 P16234 Cortical dysplasia-focal epilepsy syndrome 610042 Q9UHC6 Nail-patella syndrome 161200 O60663 Colorblindness, protan 303900 P04000 [High density lipoprotein cholesterol level QTL 10] 143470 P11597 Danon disease 300257 P13473 {Atrioventricular septal defect, susceptibility to, 2} 606217 Q96HD1 Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus 153400 Q99958 Deafness, autosomal dominant 64 614152 Q9NR28 Hystrix-like ichthyosis with deafness 602540 P29033 {Epilepsy, idiopathic generalized, susceptibility to, 8} 612899 P41180 Ichthyosis follicularis, atrichia, and photophobia syndrome 308205 O43462 Renal adysplasia 191830 O75631 Leukodystrophy, hypomyelinating, 3 260600 Q12904 Leukodystrophy, hypomyelinating, 2 608804 Q5T442 Leukodystrophy, hypomyelinating, 5 610532 Q9BYI3 Cataract, posterior polar, 4, syndromic 610623 O75364 Dentinogenesis imperfecta, Shields type III 125500 Q9NZW4 Meckel syndrome, type 5 611561 Q68CZ1 Mucolipidosis III alpha/beta 252600 Q3T906 Aromatic L-amino acid decarboxylase deficiency 608643 P20711 Athabaskan brainstem dysgenesis syndrome 601536 P49639 {Obesity, susceptibility to, BMIQ12} 612362 P29120 Hemochromatosis, type 3 604250 Q9UP52 Hemochromatosis, type 4 606069 Q9NP59 {Creutzfeldt-Jakob disease, variant, resistance to} 123400 P01920 [Blood group, Knops system] 607486 P17927 Gitelman syndrome 263800 P55017 Crouzon syndrome with acanthosis nigricans 612247 P22607 Candidiasis, familial, 6, autosomal dominant 613956 Q96PD4 Hypotrichosis, congenital, with juvenile macular dystrophy 601553 P22223 Spastic paraplegia 30, autosomal recessive 610357 Q12756 Glomerulocystic kidney disease with hyperuricemia and isosthenuria 609886 P07911 Renal cell carcinoma, papillary 605074 Q92733 Methylmalonic aciduria due to transcobalamin receptor defect 613646 Q9NPF0 Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas 132600 Q9UIF7 Keratitis 148190 P26367 Episodic ataxia/myokymia syndrome 160120 Q09470 6-mercaptopurine sensitivity 610460 P51580 Systemic lupus erythematosus, susceptibility to or protection against 152700 P0C0L4 Hypospadias 2, X-linked 300758 Q13495 Basal laminar drusen 126700 P08603 Spastic paraplegia-42 612539 O00400 Rickets, vitamin D-resistant, type IIA 277440 P11473 Asthma and nasal polyps 208550 Q9UL17 Hydatidiform mole, recurrent, 2 614293 Q587J8 {Pheochromocytoma, susceptibility to} 171300 P61244,O75204 Obesity with impaired prohormone processing 600955 P29120 Coloboma of optic nerve 120430 P26367 Glycogen storage disease XIV 612934 P36871 Myopathy, congenital, Compton-North 612540 Q12860 Mitochondrial DNA depletion syndrome 4A (Alpers type 203700 P54098 Mental retardation, X-linked 63 300387 O60488 Neuroblastoma 256700 P15531 Plasminogen activator inhibitor-1 deficiency 613329 P05121 Leprechaunism 246200 P06213 Epilepsy, nocturnal frontal lobe, type 4 610353 Q15822 Ectodermal dysplasia, hypohidrotic, with immune deficiency 300291 Q9Y6K9 Waardenburg syndrome, type 2E, with or without neurologic involvement 611584 P56693 Polycythemia vera 263300 O60674 Leukoencephalopathy with vanishing white matter 603896 Q14232,P49770,Q9NR50,Q13144 Amyotrophic lateral sclerosis with frontotemporal dementia 105550 Q96LT7 Adrenomyeloneuropathy 300100 P33897 Megaloblastic anemia-1, Norwegian type 261100 Q9BXJ7 Hypoaldosteronism, congenital, due to CMO II deficiency 610600 P19099 Narcolepsy 7 614250 Q16653 De Sanctis-Cacchione syndrome 278800 Q03468 Smith-Magenis syndrome 182290 Q7Z5J4 Myelodysplastic syndrome, somatic 614286 Q8IXJ9,O75533,Q6N021 [Inosine triphosphatase deficiency] 613850 Q9BY32 {Rapid progression to AIDS from HIV1 infection} 609423 P49238 Dent disease 2 300555 Q01968 {Colon cancer, susceptibility to} 114500 O14965 Hemangioma, capillary infantile, somatic 602089 P35916,P35968 {Acquired long QT syndrome, reduced susceptibility to} 613688 Q5I7T1 Immunodeficiency, common variable, 4 613494 Q96RJ3 Norrie disease 310600 Q00604 Myokymia 121200 O43526 Vitamin K-dependent clotting factors, combined deficiency of, 2 607473 Q9BQB6 Myeloproliferative disorder with eosinophilia 131440 P09619 Thiamine-responsive megaloblastic anemia syndrome 249270 O60779 Aarskog-Scott syndrome 305400 P98174 Diabetes mellitus, ketosis-prone 612227 O43316 Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation 613926 Q14CZ8 Syndactyly, type IV 186200 Q8WVP7 Cataract, congenital zonular, with sutural opacities 600881 P05813 Retinitis pigmentosa 54 613428 A6NGG8 Ectodermal dysplasia-syndactyly syndrome 1 613573 Q96NY8 Paramyotonia congenita 168300 P35499 Trimethylaminuria 602079 P31513 Retinitis pigmentosa-40 613801 P35913 Malonyl-CoA decarboxylase deficiency 248360 O95822 Fabry disease 301500 P06280 Disordered steroidogenesis due to cytochrome P450 oxidoreductase 613571 P16435 Homocystinuria, B6-responsive and nonresponsive types 236200 P35520 {Hepatitic C virus, susceptibility to} 609532 P08575 Congenital heart defects, nonsyndromic, 1, X-linked 306955 O60481 Cherubism 118400 P78314 Diabetes mellitus, insulin-dependent, 2 125852 P01308 Ataxia, cerebellar, Cayman type 601238 Q86WG3 Epiphyseal dysplasia, multiple 1 132400 P49747 Transposition of the great arteries, dextro-looped 1 608808 Q71F56 Anonychia congenita 206800 Q2I0M5 Transposition of the great arteries, dextro-looped 2 613853 P0CG37 Stomatocytosis I 185000 P27105 Gaze palsy, horizontal, with progressive scoliosis 607313 Q96MS0 {Hepatitis C virus infection, response to therapy of} 609532 Q8IZI9 Waardenburg syndrome, type 4A 277580 P24530 Rhabdomyosarcoma, alveolar 268220 Q12778 {Epilepsy, juvenile absence, susceptibility to, 2} 607628 P51788 {Multiple self-healing squamous epithelioma, susceptiblity to} 132800 P36897 Adenomatous polyposis coli 175100 P25054 {Budd-Chiari syndrome} 600880 P12259,O60674 [Blood group, Scianna system] 111750 Q96PL5 Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive 205950 Q86SX6,Q96DW6 Meier-Gorlin syndrome 5 613805 Q99741 Mental retardation, X-linked 92 300851 Q2M3X9 Immunodeficiency due to defect in CD3-zeta 610163 P20963 Mental retardation, X-linked 90 300850 Q92796 Leukemia, juvenile myelomonocytic 607785 Q9UNA1,P21359,Q06124 Mental retardation, X-linked 96 300802 P08247 Mental retardation, X-linked 97 300803 Q9Y462 Mental retardation, X-linked 94 300699 P42263 Mental retardation, X-linked 95 300716 Q9H0U3 Hyperoxaluria, primary, type 1 259900 P21549 Hypercholesterolemia, familial, 3 603776 Q8NBP7 Maturity-onset diabetes of the young, type IX 612225 O43316 Oguchi disease-2 613411 Q15835 Oguchi disease-1 258100 P10523 3-methylglutaconic aciduria, type V 610198 Q96DA6 Hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, and hypogonadism 612391 Q9BZD2 Macrothrombocytopenia, autosomal dominant, TUBB1-related 613112 Q9H4B7 Long QT syndrome 12 612955 Q13424 {Hepatitis C virus, response to therapy of} 609532 P01579 Bifid nose with or without anorectal and renal anomalies 608980 Q5H8C1 Pyogenic bacterial infections, recurrent, due to MYD88 deficiency 612260 Q99836 Immune dysfunction with T-cell inactivation due to calcium entry defect 1 612782 Q96D31 Eiken syndrome 600002 Q03431 Anemia, hemolytic, due to UMPH1 deficiency 266120 Q9H0P0 {Meningioma} 607174 P60484 Refsum disease 266500 O00628,O14832 Caudal duplication anomaly 607864 O15169 Nevus, keratinocytic, nonepidermolytic 162900 P22607 Cataract, crystalline aculeiform 115700 P07320 {Thrombophilia, susceptibility to, due to factor V Leiden} 188055 P12259 AGAT deficiency 612718 P50440 3-methylglutaconic aciduria, type I 250950 Q13825 Epiphyseal dysplasia, multiple, 3 600969 Q14050 Epiphyseal dysplasia, multiple, 2 600204 Q14055 Fabry disease, cardiac variant 301500 P06280 Epiphyseal dysplasia, multiple, 4 226900 P50443 Hyperprolinemia, type II 239510 P30038 Epiphyseal dysplasia, multiple, 6 614135 P20849 Parkinson disease-8 607060 Q5S007 Muscular dystrophy with epidermolysis bullosa simplex 226670 Q15149 Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance 300486 O60890 {Atopy, susceptibility to} 147050 P24394,Q01362,Q13093,P16109 Hyperuricemic nephropathy, familial juvenile 2 613092 P00797 Mental retardation, autosomal dominant 10 614256 Q9Y698 Emery-Dreifuss muscular dystrophy 1, X-linked 310300 P50402 Hyperuricemic nephropathy, familial juvenile 1 162000 P07911 Amytrophic lateral sclerosis 16, juvenile 614373 Q99720 Startle disease/hyperekplexia, autosomal dominant 149400 P23415 Persistent Mullerian duct syndrome, type II 261550 Q16671 Frontonasal dysplasia 1 136760 O95076 Frontonasal dysplasia 2 613451 Q9H161 Frontonasal dysplasia 3 613456 Q15699 Deafness, autosomal recessive 18 602092 Q9Y6N9 Oculocutaneous albinism, type IV 606574 Q9UMX9 Deafness, autosomal recessive 15 601869 Q8TF64 Deafness, autosomal recessive 16 603720 Q7RTU9 Erythrocytosis, somatic 133100 Q9UQQ2 Doyne honeycomb degeneration of retina 126600 Q12805 Prolidase deficiency 170100 P12955 {Venous thrombosis, protection against} 188050 P00488 Holoprosencephaly-3 142945 Q15465 Autoimmune disease, syndromic multisystem 613385 Q96J02 Holoprosencephaly-7 610828 Q13635 Holoprosencephaly-5 609637 O95409 Holoprosencephaly-4 142946 Q15583 Cataract, cerulean, type 2 601547 P43320 Osteoarthritis with mild chondrodysplasia 604864 P02458 Wolman disease 278000 P38571 Mitochondrial DNA depletion syndrome 1 (MNGIE type 603041 P19971 {Autism susceptibility 16} 613410 Q8IVB4 Pancreatic agenesis 260370 P52945 Meningioma, NF2-related, somatic 607174 P35240 Cardiomyopathy, dilated, 1BB 612877 Q14126 Medullary cystic kidney disease 2 603860 P07911 Poikiloderma with neutropenia 604173 Q9BQ65 {Hypercholesterolemia, familial, modification of} 143890 P10912 Lhermitte-Duclos syndrome 158350 P60484 Striatal necrosis, bilateral, and progressive polyneuropathy 613710 Q9HC21 Glycoprotein Ia deficiency 614200 P17301 Episodic kinesigenic dyskinesia 1 128200 Q7Z6L0 {Nicotine dependence, protection against} 188890 O75899,Q01959 Chromosome 5q14.3 deletion syndrome 613443 Q06413 [Blood group, Diego] 110500 P02730 [Acetylation, slow] 243400 P11245 Thanatophoric dysplasia, type I 187600 P22607 Corneal dystrophy, posterior polymorphous, 3 609141 P37275 Pseudohypoaldosteronism, type IIC 145260 Q9H4A3 Pseudohypoaldosteronism, type IIB 145260 Q96J92 Hypotrichosis simplex of the scalp 2 613981 Q7RTS7 Sialidosis, type I 256550 Q99519 Optic atrophy-7 612989 Q9H061 Meier-Gorlin syndrome 1 224690 Q13415 Meier-Gorlin syndrome 2 613800 O43929 Meier-Gorlin syndrome 3 613803 Q9Y5N6 Meier-Gorlin syndrome 4 613804 Q9H211 Growth retardation with deafness and mental retardation due to IGF1 deficiency 608747 P05019 Lactate dehydrogenase-B deficiency 614128 P07195 Retinoschisis 312700 O15537 Pseudohypoparathyroidism Ia 103580 P84996,P63092,Q5JWF2,O95467 Diaphragmatic hernia 3 610187 Q8WW38 Van Buchem disease 239100 Q9BQB4 Gastric cancer, somatic 137215 Q92851,P04626,P21802,P10914,Q99612,Q9UIF7,P42336,P25054 Menkes disease 309400 Q04656 Peeling skin syndrome, acral type 609796 O43548 Shprintzen-Goldberg syndrome 182212 P35555 Achondroplasia 100800 P22607 Mental retardation-hypotonic facies syndrome, X-linked 309580 P46100 Alpha-methylacetoacetic aciduria 203750 P24752 Mevalonic aciduria 610377 Q03426 [Colostrum secretion, variation in] 117800 Q96J66 C5 deficiency 609536 P01031 Ethylmalonic encephalopathy 602473 O95571 Multisystemic smooth muscle dysfunction syndrome 613834 P62736 Deafness, autosomal recessive 1A 220290 P29033 Deafness, autosomal recessive 1B 612645 O95452 Papillon-Lefevre syndrome 245000 P53634