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	sickle cell anemia

Disease ID	119
Disease	sickle cell anemia
Definition	A disease characterized by chronic hemolytic anemia, episodic painful crises, and pathologic involvement of many organs. It is the clinical expression of homozygosity for hemoglobin S.
Synonym	anaemia cell sickle anemia cell disorder sickle anemia cell disorders sickle anemia cells sickle anemia cells sickles anemia sickle cell anemia sickle celled anemia sickle-cell anemia, sickle cell anemia, sickle cell [disease/finding] anemias, sickle cell cell disease, sickle cell diseases sickle cell diseases, sickle cell disorder sickle cell disorder, sickle cell disorders, sickle cell sickle syndrome cell sickle syndromes cells disease sickle disease hb s disease sickle cell disease sickle-cell disease, hemoglobin s drepanocythaemia drepanocythemia haemoglobin s disease haemoglobin s-s disease hb s disease hb ss hb ss disease hbs disease hemoglobin s dis hemoglobin s disease hemoglobin s disease (disorder) hemoglobin s diseases hemoglobin s-s disease hemoglobin ss hemoglobin ss disease hereditary hemoglobinopathy disorder homozygous for hemoglobin s hereditary hemoglobinopathy disorder homozygous for hemoglobin s (disorder) herrick syndrome herrick's anemia scd scds sickle cell (ss only) sickle cell anaemia sickle cell anaemia (disorder) sickle cell anaemia nos sickle cell anaemia of unspecified type sickle cell anemia nos sickle cell anemia nos (disorder) sickle cell anemia of unspecified type sickle cell anemia of unspecified type (disorder) sickle cell anemias sickle cell disease sickle cell disease nos sickle cell diseases sickle cell disorder sickle cell disorders sickle cell hemolytic anemia sickle cell syndrome sickle cell syndrome (disorder) sickle-cell anaemia sickle-cell anemia sickle-cell anemia nos sickle-cell disease sickle-cell disease, unspecified sicklemia sickling disorder due to haemoglobin s sickling disorder due to hemoglobin s sickling disorder due to hemoglobin s (disorder) syndrome sickle cell
Orphanet	ORPHANET:232
OMIM	OMIM:603903 OMIM:604031
DOID	DOID:10923
UMLS	C0002895
MeSH	D000755
SNOMED-CT	SNOMEDCT_US_2016_09_01:127040003;SNOMEDCT_US_2016_09_01:417357006
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:143) C0742343 \| acute chest syndrome \| 25 C0020538 \| hypertension \| 23 C0020542 \| pulmonary hypertension \| 22 C0948201 \| alloimmunization \| 19 C0282193 \| iron overload \| 18 C0033117 \| priapism \| 17 C0029443 \| osteomyelitis \| 11 C0004096 \| asthma \| 8 C0002871 \| anemia \| 6 C0007785 \| cerebral infarct \| 6 C0042373 \| vascular disease \| 5 C0033687 \| proteinuria \| 5 C0398623 \| hypercoagulable state \| 4 C0039730 \| thalassemia \| 4 C0004623 \| bacterial infection \| 4 C0022658 \| kidney disease \| 4 C0042870 \| vitamin d defic \| 3 C0002871 \| anaemia \| 3 C0003864 \| arthritis \| 3 C0018799 \| heart disease \| 3 C0042870 \| vitamin d deficiency \| 3 C0008350 \| gallstones \| 3 C0024530 \| malaria \| 3 C0040053 \| thrombosis \| 3 C0026654 \| moyamoya syndrome \| 3 C0037998 \| splenic infarction \| 3 C0019196 \| hepatitis c \| 3 C0018784 \| sensorineural hearing loss \| 3 C1260402 \| splenic sequestration \| 3 C0007785 \| cerebral infarction \| 3 C0007766 \| cranial aneurysm \| 2 C0026975 \| myelitis \| 2 C0042769 \| virus infection \| 2 C0032269 \| pneumococcal infection \| 2 C0242350 \| erectile dysfunction \| 2 C0004623 \| bacterial infections \| 2 C1619734 \| pulmonary arterial hypertension \| 2 C0007766 \| intracranial aneurysm \| 2 C0002895 \| sickle cell anemia \| 2 C0011570 \| depression \| 2 C0852949 \| arterial disease \| 2 C0007273 \| carotid artery disease \| 2 C0022658 \| renal disease \| 2 C0007766 \| intracranial aneurysms \| 2 C0011847 \| diabetes \| 2 C0006142 \| breast cancer \| 2 C0153500 \| heart ca \| 2 C0007785 \| cerebral infarcts \| 2 C0039730 \| thalassemias \| 2 C0032285 \| pneumonia \| 2 C0022661 \| end-stage renal disease \| 2 C0679466 \| cognitive deficits \| 2 C0409974 \| lupus erythematosus \| 2 C0010068 \| coronary heart disease \| 2 C0398623 \| hypercoagulability \| 2 C0024141 \| systemic lupus erythematosus \| 2 C0037315 \| sleep-disordered breathing \| 1 C0029434 \| osteogenesis imperfecta \| 1 C0010068 \| coronary disease \| 1 C0008370 \| cholestasis \| 1 C0022667 \| papillary necrosis \| 1 C0162429 \| malnutrition \| 1 C0751955 \| brain infarct \| 1 C0007273 \| carotid arterial disease \| 1 C0701818 \| choledocholithiasis \| 1 C0001623 \| adrenal insufficiency \| 1 C0029882 \| otitis media \| 1 C0036117 \| salmonella infections \| 1 C0008350 \| cholelithiasis \| 1 C0022116 \| ischemia \| 1 C0022116 \| ischaemia \| 1 C0033845 \| pseudotumor cerebri \| 1 C0003874 \| septic arthritis \| 1 C0021400 \| influenza \| 1 C0016522 \| patent foramen ovale \| 1 C0004659 \| bacteriuria \| 1 C0014544 \| epilepsy \| 1 C0029463 \| osteosarcoma \| 1 C0040961 \| tricuspid regurgitation \| 1 C0155877 \| atopic asthma \| 1 C0206693 \| medullary carcinoma \| 1 C0019360 \| zoster \| 1 C0442874 \| neuropathy \| 1 C0023895 \| liver disease \| 1 C0553662 \| juvenile idiopathic arthritis \| 1 C0206062 \| interstitial lung disease \| 1 C0020619 \| hypogonadism \| 1 C0013575 \| ectodermal dysplasia \| 1 C0032285 \| pneumoniae \| 1 C0024115 \| lung disease \| 1 C0040053 \| thrombus \| 1 C0001261 \| actinomycosis \| 1 C0520679 \| obstructive sleep apnea \| 1 C1561644 \| chronic kidney disease (ckd) \| 1 C0040188 \| tic disorders \| 1 C0011849 \| diabetes mellitus \| 1 C0018099 \| gout \| 1 C0162429 \| undernutrition \| 1 C0034065 \| pulmonary embolism \| 1 C0036117 \| salmonella infection \| 1 C0007134 \| renal carcinoma \| 1 C0302592 \| cervical ca \| 1 C0026985 \| myelodysplasia \| 1 C0020532 \| hypersplenism \| 1 C0392041 \| testicular infarction \| 1 C0026764 \| multiple myeloma \| 1 C0751955 \| brain infarction \| 1 C0002312 \| alpha thalassemia \| 1 C0008372 \| intrahepatic cholestasis \| 1 C0149931 \| migraine \| 1 C0011854 \| type 1 diabetes mellitus \| 1 C1565489 \| renal insufficiency \| 1 C0024143 \| lupus nephritis \| 1 C0026986 \| myelodysplastic syndrome \| 1 C0149825 \| adenoid hypertrophy \| 1 C0155765 \| microangiopathy \| 1 C0019158 \| hepatitis \| 1 C0042075 \| urologic disease \| 1 C0085681 \| hyperphosphatemia \| 1 C0036117 \| salmonella infect \| 1 C0014761 \| haemolytic disease of the newborn \| 1 C0022661 \| end-stage kidney disease \| 1 C0019021 \| hemoglobin c disease \| 1 C0041327 \| pulmonary tuberculosis \| 1 C0020581 \| hyphema \| 1 C0151744 \| myocardial ischaemia \| 1 C0027697 \| nephritis \| 1 C0033847 \| pseudoxanthoma elasticum \| 1 C1258215 \| ileus \| 1 C0041296 \| tuberculosis \| 1 C0392041 \| testicular infarct \| 1 C0012624 \| spondylodiscitis \| 1 C0038220 \| status epilepticus \| 1 C0016053 \| fibromyalgia \| 1 C0002878 \| hemolytic anemia \| 1 C0027726 \| nephrotic syndrome \| 1 C0022661 \| chronic kidney disease \| 1 C0008049 \| varicella \| 1 C0011854 \| type 1 diabetes \| 1 C0021053 \| immune dysfunction \| 1 C0011882 \| diabetic neuropathy \| 1 C0004936 \| mental disorders \| 1 C0037315 \| sleep apnea \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:10) 7372 \| UMPS \| CTD_human 7124 \| TNF \| CTD_human 7412 \| VCAM1 \| CTD_human 790 \| CAD \| CTD_human 4879 \| NPPB \| CTD_human 3043 \| HBB \| CLINVAR;CTD_human;ORPHANET;UNIPROT 53335 \| BCL11A \| GWASCAT 1723 \| DHODH \| CTD_human 3240 \| HP \| CTD_human 8131 \| NPRL3 \| GWASCAT
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:44) 338 \| APOB \| CIPHER 50617 \| ATP6V0A4 \| CIPHER 135152 \| B3GAT2 \| CIPHER 1565 \| CYP2D6 \| CIPHER 2824 \| GPM6B \| CIPHER 3043 \| HBB \| CIPHER;CTD_human 10767 \| HBS1L \| CIPHER 9424 \| KCNK6 \| CIPHER 4153 \| MBL2 \| CIPHER 4163 \| MCC \| CIPHER 4602 \| MYB \| CIPHER 8654 \| PDE5A \| CIPHER 5251 \| PHEX \| CIPHER 56681 \| SAR1A \| CIPHER 344988 \| SAR1AP3 \| CIPHER 9760 \| TOX \| CIPHER 6737 \| TRIM21 \| CIPHER 54658 \| UGT1A1 \| CIPHER 54575 \| UGT1A10 \| CIPHER 54659 \| UGT1A3 \| CIPHER 54657 \| UGT1A4 \| CIPHER 54579 \| UGT1A5 \| CIPHER 54578 \| UGT1A6 \| CIPHER 54577 \| UGT1A7 \| CIPHER 54576 \| UGT1A8 \| CIPHER 54600 \| UGT1A9 \| CIPHER 7364 \| UGT2B7 \| CIPHER 64848 \| YTHDC2 \| CIPHER 729230 \| CCR2 \| CIPHER 1234 \| CCR5 \| CIPHER 1906 \| EDN1 \| CIPHER 2147 \| F2 \| CIPHER 3119 \| HLA-DQB1 \| CIPHER 3123 \| HLA-DRB1 \| CIPHER 4524 \| MTHFR \| CIPHER 4846 \| NOS3 \| CIPHER 4842 \| NOS1 \| CIPHER 7412 \| VCAM1 \| CTD_human 4879 \| NPPB \| CTD_human 7124 \| TNF \| CTD_human 790 \| CAD \| CTD_human 3240 \| HP \| CTD_human 7372 \| UMPS \| CTD_human 1723 \| DHODH \| CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:103) 94 \| ACVRL1 \| 1.569 \| DISEASES 100 \| ADA \| 1.557 \| DISEASES 84890 \| ADO \| 1.021 \| DISEASES 310 \| ANXA7 \| 2.243 \| DISEASES 10564 \| ARFGEF2 \| 1.916 \| DISEASES 493 \| ATP2B4 \| 1.402 \| DISEASES 522 \| ATP5J \| 1.116 \| DISEASES 53335 \| BCL11A \| 5.481 \| DISEASES 669 \| BPGM \| 2.486 \| DISEASES 56244 \| BTNL2 \| 3.087 \| DISEASES 801 \| CALM1 \| 2.129 \| DISEASES 23066 \| CAND2 \| 1.17 \| DISEASES 22900 \| CARD8 \| 1.191 \| DISEASES 8573 \| CASK \| 1.282 \| DISEASES 910 \| CD1B \| 1.002 \| DISEASES 959 \| CD40LG \| 2.928 \| DISEASES 1108 \| CHD4 \| 1.34 \| DISEASES 1453 \| CSNK1D \| 1.081 \| DISEASES 1471 \| CST3 \| 1.734 \| DISEASES 1580 \| CYP4B1 \| 1.637 \| DISEASES 85443 \| DCLK3 \| 1.564 \| DISEASES 1906 \| EDN1 \| 2.245 \| DISEASES 60481 \| ELOVL5 \| 1.384 \| DISEASES 2027 \| ENO3 \| 1.167 \| DISEASES 5167 \| ENPP1 \| 1.428 \| DISEASES 953 \| ENTPD1 \| 1.313 \| DISEASES 377841 \| ENTPD8 \| 2.997 \| DISEASES 2035 \| EPB41 \| 3.068 \| DISEASES 2159 \| F10 \| 1.644 \| DISEASES 2152 \| F3 \| 3.014 \| DISEASES 2153 \| F5 \| 1.482 \| DISEASES 646480 \| FABP9 \| 3.499 \| DISEASES 2290 \| FOXG1 \| 1.533 \| DISEASES 2533 \| FYB \| 3.121 \| DISEASES 2623 \| GATA1 \| 2.389 \| DISEASES 57704 \| GBA2 \| 1.463 \| DISEASES 2938 \| GSTA1 \| 1.681 \| DISEASES 2993 \| GYPA \| 2.977 \| DISEASES 3032 \| HADHB \| 1.236 \| DISEASES 26762 \| HAVCR1 \| 1.186 \| DISEASES 3039 \| HBA1 \| 2.684 \| DISEASES 3043 \| HBB \| 6.346 \| DISEASES 3045 \| HBD \| 4.09 \| DISEASES 3047 \| HBG1 \| 4.306 \| DISEASES 3048 \| HBG2 \| 4.215 \| DISEASES 10767 \| HBS1L \| 4.924 \| DISEASES 391723 \| HELT \| 2.108 \| DISEASES 3240 \| HP \| 2.618 \| DISEASES 3386 \| ICAM4 \| 2.929 \| DISEASES 3586 \| IL10 \| 1.386 \| DISEASES 3664 \| IRF6 \| 1.505 \| DISEASES 3718 \| JAK3 \| 1.605 \| DISEASES 3767 \| KCNJ11 \| 1.947 \| DISEASES 3792 \| KEL \| 1.234 \| DISEASES 9365 \| KL \| 1.843 \| DISEASES 3963 \| LGALS7 \| 1.356 \| DISEASES 9053 \| MAP7 \| 2.208 \| DISEASES 8972 \| MGAM \| 2.09 \| DISEASES 10724 \| MGEA5 \| 1.08 \| DISEASES 57553 \| MICAL3 \| 3.217 \| DISEASES 4285 \| MIPEP \| 4.295 \| DISEASES 4524 \| MTHFR \| 2.262 \| DISEASES 8131 \| NPRL3 \| 1.351 \| DISEASES 7182 \| NR2C2 \| 1.902 \| DISEASES 79345 \| OR51B2 \| 3.749 \| DISEASES 79339 \| OR51B4 \| 3.1 \| DISEASES 390058 \| OR51B6 \| 3.749 \| DISEASES 5228 \| PGF \| 1.438 \| DISEASES 114780 \| PKD1L2 \| 2.823 \| DISEASES 5313 \| PKLR \| 2.517 \| DISEASES 56342 \| PPAN \| 3.407 \| DISEASES 5592 \| PRKG1 \| 2.209 \| DISEASES 6007 \| RHD \| 1.955 \| DISEASES 6014 \| RIT2 \| 1.268 \| DISEASES 6297 \| SALL2 \| 1.718 \| DISEASES 6401 \| SELE \| 2.689 \| DISEASES 462 \| SERPINC1 \| 2.364 \| DISEASES 6560 \| SLC12A4 \| 3.58 \| DISEASES 57468 \| SLC12A5 \| 1.815 \| DISEASES 9990 \| SLC12A6 \| 2.93 \| DISEASES 83650 \| SLC35G5 \| 2.143 \| DISEASES 6533 \| SLC6A6 \| 2.158 \| DISEASES 55553 \| SOX6 \| 2.748 \| DISEASES 55959 \| SULF2 \| 1.195 \| DISEASES 54790 \| TET2 \| 1.236 \| DISEASES 7018 \| TF \| 2.516 \| DISEASES 7037 \| TFRC \| 2.672 \| DISEASES 201633 \| TIGIT \| 1.512 \| DISEASES 7124 \| TNF \| 2.324 \| DISEASES 27433 \| TOR2A \| 3.956 \| DISEASES 51592 \| TRIM33 \| 1.16 \| DISEASES 7225 \| TRPC6 \| 1.304 \| DISEASES 7258 \| TSPY1 \| 1.97 \| DISEASES 100289087 \| TSPY10 \| 2.006 \| DISEASES 54575 \| UGT1A10 \| 1.395 \| DISEASES 54659 \| UGT1A3 \| 1.324 \| DISEASES 54576 \| UGT1A8 \| 1.387 \| DISEASES 7453 \| WARS \| 2.012 \| DISEASES 23038 \| WDTC1 \| 1.654 \| DISEASES 51341 \| ZBTB7A \| 1.241 \| DISEASES 79776 \| ZFHX4 \| 2.283 \| DISEASES 161882 \| ZFPM1 \| 1.979 \| DISEASES 26036 \| ZNF451 \| 1.475 \| DISEASES
Locus	Symbol \| Locus(Total Locus:1) HBB \| 11p15.4

Disease ID	119
Disease	sickle cell anemia
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:35) HP:0002240 \| Enlarged liver HP:0001935 \| Microcytic anemia HP:0000488 \| Noninflammatory retina disease HP:0200023 \| Priapism HP:0001923 \| Reticulocytosis HP:0012531 \| Pain HP:0000707 \| Abnormality of the nervous system HP:0005518 \| Increased mean corpuscular volume HP:0011981 \| Pigment gallstones HP:0000790 \| Hematuria HP:0002719 \| Recurrent infections HP:0001894 \| Thrombocytosis HP:0001081 \| Gallstones HP:0001878 \| Hemolytic anemia HP:0012418 \| Hypoxemia HP:0002754 \| Osteomyelitis HP:0001396 \| Cholestasis HP:0001878 \| Haemolytic anaemia HP:0045040 \| Abnormal lactate dehydrogenase activity HP:0008346 \| Increased sickling of erythrocytes HP:0000939 \| Osteoporosis HP:0003259 \| Elevated serum creatinine HP:0004870 \| Chronic hemolytic anemia HP:0002597 \| Abnormality of the vasculature HP:0001744 \| Splenomegaly HP:0000952 \| Yellow skin HP:0001974 \| Leukocytosis HP:0100749 \| Chest pain HP:0001891 \| Iron deficiency anemia HP:0001640 \| Increased heart size HP:0010885 \| Aseptic necrosis HP:0011904 \| Persistence of hemoglobin F HP:0008282 \| Unconjugated hyperbilirubinemia HP:0001743 \| Abnormality of the spleen HP:0001931 \| Hypochromic anemia
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:130) HP:0012531 \| Pain \| 39 HP:0001297 \| Cerebral vascular events \| 39 HP:0000822 \| Hypertension \| 26 HP:0002092 \| Pulmonary artery hypertension \| 26 HP:0200023 \| Priapism \| 18 HP:0002754 \| Bone infection \| 11 HP:0001903 \| Anemia \| 10 HP:0002099 \| Asthma \| 8 HP:0010885 \| Aseptic necrosis \| 7 HP:0100310 \| Extradural hematoma \| 6 HP:0012594 \| High urine albumin levels \| 6 HP:0000093 \| Proteinuria \| 5 HP:0100543 \| Cognitive deficits \| 4 HP:0012592 \| Albuminuria \| 4 HP:0001945 \| Fever \| 4 HP:0001081 \| Gallstones \| 4 HP:0001944 \| Dehydration \| 3 HP:0000805 \| Enuresis \| 3 HP:0001907 \| Thromboembolic disease \| 3 HP:0011856 \| Pica \| 3 HP:0012532 \| Chronic pain \| 3 HP:0001399 \| Liver failure \| 3 HP:0012418 \| Low blood oxygen level \| 3 HP:0000952 \| Yellow skin \| 3 HP:0001369 \| Arthritis \| 3 HP:0100512 \| Vitamin D deficiency \| 3 HP:0002027 \| Abdominal pain \| 3 HP:0000407 \| sensorineural hearing loss \| 3 HP:0002863 \| Myelodysplastic syndrome \| 2 HP:0100749 \| Thoracic pain \| 2 HP:0003002 \| Breast carcinoma \| 2 HP:0003774 \| End-stage renal failure \| 2 HP:0000716 \| Depression \| 2 HP:0000802 \| Erectile dysfunction \| 2 HP:0002459 \| Dysautonomia \| 2 HP:0004944 \| Cerebral artery aneurysm \| 2 HP:0010677 \| Enuresis nocturna \| 2 HP:0000790 \| Hematuria \| 2 HP:0100724 \| Hypercoagulability \| 2 HP:0002140 \| Ischemic stroke \| 2 HP:0002090 \| Pneumonia \| 2 HP:0002725 \| Systemic lupus erythematosus \| 2 HP:0004936 \| Blood clot in vein \| 2 HP:0100820 \| Glomerulopathy \| 2 HP:0002597 \| Abnormality of blood vessels \| 2 HP:0012486 \| Inflammation of spinal cord \| 2 HP:0002617 \| Aneurysmal dilatation \| 2 HP:0001406 \| Intrahepatic cholestasis \| 1 HP:0004870 \| hemolytic anemia, chronic \| 1 HP:0003146 \| Decreased circulating cholesterol level \| 1 HP:0100545 \| Arterial stenosis \| 1 HP:0030828 \| Wheezing \| 1 HP:0005584 \| Renal cell carcinoma \| 1 HP:0000388 \| Otitis media \| 1 HP:0002625 \| Blood clot in a deep vein \| 1 HP:0000819 \| Diabetes mellitus \| 1 HP:0000846 \| Hypoadrenalism \| 1 HP:0000689 \| Misalignment of upper and lower dental arches \| 1 HP:0001396 \| Cholestasis \| 1 HP:0002204 \| Pulmonary embolism \| 1 HP:0002719 \| infections, recurrent \| 1 HP:0002904 \| High blood bilirubin levels \| 1 HP:0000989 \| pruritis \| 1 HP:0000938 \| Decreased bone mineral density \| 1 HP:0001941 \| acidemia \| 1 HP:0000099 \| Glomerular nephritis \| 1 HP:0006530 \| Interstitial lung disease \| 1 HP:0002133 \| Status epilepticus \| 1 HP:0002905 \| Hyperphosphatemia \| 1 HP:0002076 \| Migraine headaches \| 1 HP:0003418 \| Back pain \| 1 HP:0005681 \| Juvenile idiopathic arthritis \| 1 HP:0002138 \| Subarachnoid hemorrhage \| 1 HP:0002870 \| Obstructive sleep apnea \| 1 HP:0005661 \| Salmonella osteomyelitis \| 1 HP:0005180 \| Tricuspid insufficiency \| 1 HP:0001997 \| Gout \| 1 HP:0012378 \| Fatigue \| 1 HP:0000047 \| Hypospadias \| 1 HP:0010535 \| Sleep apnea \| 1 HP:0012211 \| Renal functional abnormality \| 1 HP:0004395 \| Malnutrition \| 1 HP:0002104 \| Absence of spontaneous respiration \| 1 HP:0200123 \| Chronic liver inflammation \| 1 HP:0001733 \| Pancreatic inflammation \| 1 HP:0000083 \| Renal insufficiency \| 1 HP:0002664 \| Neoplasia \| 1 HP:0001655 \| Patent foramen ovale \| 1 HP:0100626 \| Chronic hepatic failure \| 1 HP:0000010 \| Frequent urinary tract infections \| 1 HP:0001942 \| Metabolic acidosis \| 1 HP:0001410 \| Decreased liver function \| 1 HP:0006775 \| Multiple myeloma \| 1 HP:0000124 \| Renal tubular defect \| 1 HP:0100758 \| Gangrene \| 1 HP:0001712 \| Left ventricular hypertrophy \| 1 HP:0001677 \| Coronary artery disease \| 1 HP:0000100 \| Nephrosis \| 1 HP:0001695 \| Cardiac arrest \| 1 HP:0100806 \| Sepsis \| 1 HP:0000968 \| Ectodermal dysplasia \| 1 HP:0001433 \| Enlarged liver and spleen \| 1 HP:0030882 \| Enlargement of the diameter (cross-section) of a coronary artery. \| 1 HP:0001878 \| Haemolytic anaemia \| 1 HP:0003613 \| Antiphospholipid antibodies \| 1 HP:0002653 \| Bone pain \| 1 HP:0011675 \| Arrhythmias \| 1 HP:0000135 \| Hypogonadism \| 1 HP:0009726 \| Renal neoplasm \| 1 HP:0001971 \| Hypersplenism \| 1 HP:0100033 \| Tic disorder \| 1 HP:0000123 \| Nephritis \| 1 HP:0004387 \| Enterocolitis \| 1 HP:0002669 \| Osteosarcoma \| 1 HP:0001298 \| Encephalopathy \| 1 HP:0011886 \| Hyphema \| 1 HP:0003095 \| Septic arthritis \| 1 HP:0005230 \| Biliary tract obstruction \| 1 HP:0012587 \| Gross hematuria \| 1 HP:0012461 \| Bacteria in urine \| 1 HP:0012115 \| Liver inflammation \| 1 HP:0012541 \| Cephalohaematoma \| 1 HP:0030666 \| Retinal neovascularisation \| 1 HP:0001693 \| Cardiac shunt \| 1 HP:0012311 \| High blood monocyte number \| 1 HP:0002500 \| Leukoaraiosis \| 1 HP:0002595 \| Gastrointestinal atony \| 1 HP:0006554 \| Acute hepatic failure \| 1 HP:0001714 \| Ventricular hypertrophy \| 1 HP:0001510 \| Growth deficiency \| 1

Disease ID	119
Disease	sickle cell anemia
Manually Symptom	UMLS \| Name(Total Manually Symptoms:156) C2712335 \| dehydration C2711515 \| stuttering priapism C2711515 \| recurrent priapism C2707258 \| infections C2678504 \| osteoporosis C2613439 \| extramedullary hematopoiesis C2598155 \| pain C2364133 \| infection C2364072 \| depression C2363906 \| splenic calcification C2186532 \| liver disease C1963220 \| pulmonary hypertension C1963198 \| pancreatitis C1963154 \| renal failure C1963138 \| hypertension C1962972 \| proteinuria C1863767 \| m syndrome C1739376 \| orbital apex syndrome C1546533 \| abscess C1533618 \| fat embolism C1521999 \| acute myocardial infarction C1417247 \| glomerulosclerosis C1393529 \| vascular complications C1384665 \| hemochromatosis C1290708 \| mandibular osteomyelitis C1253937 \| pericardial effusion C1148477 \| sudden deafness C1096458 \| vascular occlusion C1090821 \| sepsis C0948600 \| organ failure C0948355 \| myocardial bridge C0948201 \| alloimmunization C0947622 \| gallstones C0936215 \| vitamin b6 deficiency C0917996 \| cerebral aneurysms C0878544 \| cardiomyopathy C0877221 \| erythroblastopenia C0857891 \| pasteurella multocida sepsis C0853882 \| reticuloendothelial dysfunction C0836924 \| thrombocytosis C0796095 \| c syndrome C0752303 \| urological manifestations C0751955 \| brain infarction C0742343 \| acute chest syndrome C0742342 \| chest syndrome C0741949 \| cardiovascular pathology C0730345 \| microalbuminuria C0702166 \| acnes C0684256 \| bacterial septicemia C0522051 \| acute chest pain C0494491 \| mononeuropathy C0424810 \| periorbital swelling C0424755 \| fever C0423042 \| divergence paralysis C0409974 \| lupus erythematosus C0398623 \| hypercoagulable state C0393972 \| spinal cord infarction C0341439 \| chronic liver disease C0272412 \| splenic abscess C0270327 \| enuresis C0268749 \| immunotactoid glomerulopathy C0242666 \| protein s deficiency C0241885 \| exercise intolerance C0240066 \| iron deficiency C0237987 \| g6pd deficiency C0235950 \| zinc deficiency C0235574 \| intravascular hemolysis C0221123 \| hemolytic transfusion reaction C0220847 \| hepatitis c C0206255 \| malaria C0152964 \| streptococcal bacteremia C0152491 \| salmonella osteomyelitis C0151744 \| myocardial ischemia C0151721 \| testicular failure C0085605 \| hepatic failure C0085436 \| cryptococcal meningitis C0085273 \| parvovirus b19 infection C0085082 \| fungemia C0042373 \| vascular disease C0042133 \| leiomyoma C0040038 \| thromboembolism C0038525 \| subarachnoid hemorrhage C0038454 \| stroke C0038454 \| cerebrovascular accidents C0038454 \| cerebral infarction C0037299 \| skin ulceration C0037036 \| ptyalism C0036690 \| septicemia C0036117 \| salmonella infections C0034074 \| pulmonary infarction C0033117 \| priapism C0032285 \| pneumoniae C0032269 \| pneumococcal infections C0032269 \| pneumococcal infection C0030312 \| pancytopenia C0029443 \| osteomyelitis C0029166 \| oral manifestations C0027765 \| neurological disease C0027697 \| nephritis C0027051 \| myocardial infarction C0026764 \| multiple myeloma C0026654 \| moyamoya syndrome C0026267 \| mitral valve prolapse C0025289 \| meningitis C0024591 \| malignant hyperthermia C0023895 \| liver diseases C0023473 \| chronic myelogenous leukemia C0023473 \| chronic granulocytic leukemia C0023434 \| chronic lymphocytic leukemia C0023241 \| legionnaires' disease C0023223 \| leg ulcers C0022667 \| kidney papillary necrosis C0022661 \| chronic renal failure C0022660 \| acute renal failure C0022658 \| renal disease C0022658 \| nephropathy C0021308 \| infarction C0020676 \| hypothyroidism C0020619 \| hypogonadism C0020532 \| hypersplenism C0020428 \| hyperaldosteronism C0019829 \| hodgkin's disease C0019623 \| malignant histiocytosis C0019154 \| hepatic vein thrombosis C0019114 \| hemosiderosis C0019080 \| hemorrhage C0019045 \| globin abnormality C0018802 \| congestive heart failure C0018799 \| heart disease C0018799 \| cardiopathy C0018784 \| sensorineural hearing loss C0018099 \| gout C0016977 \| biliary disease C0015814 \| femur head necrosis C0014544 \| epilepsy C0013295 \| duodenal ulcer C0011334 \| dental caries C0009398 \| color vision defects C0008707 \| chronic osteomyelitis C0008370 \| cholestasis C0008350 \| cholelithiasis C0007785 \| cerebral infarcts C0007785 \| cerebral infarctions C0007785 \| cerebral infarct C0007766 \| intracranial aneurysms C0007766 \| intracranial aneurysm C0005940 \| bone disease C0005424 \| biliary tract disease C0004623 \| bacterial infections C0004623 \| bacterial infection C0004610 \| bacteremia C0004576 \| babesiosis C0003969 \| vitamin c deficiency C0003864 \| arthritis C0002622 \| amnesia C0002312 \| alpha-thalassemia
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:95) C0030193 \| pain \| 39 C0038454 \| stroke \| 34 C0742343 \| acute chest syndrome \| 25 C0020538 \| hypertension \| 24 C0020542 \| pulmonary hypertension \| 23 C0948201 \| alloimmunization \| 20 C0033117 \| priapism \| 18 C0009450 \| infection \| 17 C0029443 \| osteomyelitis \| 11 C0021308 \| infarction \| 11 C0282193 \| iron overload \| 10 C0021311 \| infections \| 9 C1393529 \| vascular complications \| 7 C0002871 \| anemia \| 6 C0023223 \| leg ulcer \| 6 C0038454 \| strokes \| 5 C0730345 \| microalbuminuria \| 5 C0042373 \| vascular disease \| 4 C0398623 \| hypercoagulable state \| 4 C0221123 \| hemolytic transfusion reaction \| 3 C0033687 \| proteinuria \| 3 C0003864 \| arthritis \| 3 C0008350 \| gallstones \| 3 C0004610 \| bacteremia \| 3 C0040053 \| thrombosis \| 3 C0011175 \| dehydration \| 3 C0742342 \| chest syndrome \| 3 C0278140 \| severe pain \| 3 C0150055 \| chronic pain \| 3 C0007785 \| cerebral infarct \| 3 C0023223 \| leg ulcers \| 3 C0014394 \| enuresis \| 2 C0184567 \| acute pain \| 2 C0011570 \| depression \| 2 C0000737 \| abdominal pain \| 2 C1384666 \| hearing loss \| 2 C0018784 \| sensorineural hearing loss \| 2 C0398623 \| hypercoagulability \| 2 C0004623 \| bacterial infection \| 2 C0270327 \| nocturnal enuresis \| 2 C0032269 \| pneumococcal infection \| 2 C0024530 \| malaria \| 2 C0242350 \| erectile dysfunction \| 2 C1619734 \| pulmonary arterial hypertension \| 2 C0002871 \| anaemia \| 2 C1096458 \| vascular occlusion \| 2 C0004623 \| bacterial infections \| 2 C0022661 \| end-stage renal disease \| 2 C0026654 \| moyamoya syndrome \| 2 C1260402 \| splenic sequestration \| 2 C0037998 \| splenic infarct \| 2 C0017086 \| gangrene \| 1 C0008372 \| intrahepatic cholestasis \| 1 C0022116 \| ischemia \| 1 C0024141 \| systemic lupus erythematosus \| 1 C0018099 \| gout \| 1 C0036690 \| sepsis \| 1 C0026764 \| multiple myeloma \| 1 C0263560 \| chronic leg ulcer \| 1 C0008350 \| cholelithiasis \| 1 C0003874 \| septic arthritis \| 1 C0038525 \| subarachnoid hemorrhage \| 1 C0027726 \| nephrotic syndrome \| 1 C0740985 \| acute anaemia \| 1 C0442874 \| neuropathy \| 1 C0014544 \| epilepsy \| 1 C0702166 \| acnes \| 1 C0007785 \| cerebral infarcts \| 1 C0004610 \| bacteraemia \| 1 C0020532 \| hypersplenism \| 1 C0009814 \| stenosis \| 1 C0856169 \| endothelial dysfunction \| 1 C0019196 \| hepatitis c \| 1 C0152491 \| salmonella osteomyelitis \| 1 C0019080 \| hemorrhage \| 1 C0022346 \| jaundice \| 1 C0730362 \| maculopathy \| 1 C0013922 \| embolism \| 1 C1536066 \| splenic sequestration crisis \| 1 C0752303 \| urological manifestations \| 1 C0085082 \| fungemia \| 1 C0040038 \| thromboembolism \| 1 C0085605 \| hepatic failure \| 1 C0748625 \| sequestration crisis \| 1 C0016053 \| fibromyalgia \| 1 C0036117 \| salmonella infections \| 1 C0796095 \| c syndrome \| 1 C0392041 \| testicular infarction \| 1 C0524910 \| chronic hepatitis c \| 1 C0020581 \| hyphema \| 1 C0002878 \| hemolytic anemia \| 1 C0026654 \| moyamoya \| 1 C0033774 \| pruritus \| 1 C0018799 \| heart disease \| 1 C0032285 \| pneumoniae \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:31)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs104894696	25117103	3077	HFE	umls:C0002895	BeFree	We assessed the frequency of the G71D mutation of the HAMP gene and the H63D mutation of the HFE gene and the correlation between these mutations as well as the correlation between them and the iron overload in sickle cell disease (SCD) patients.	0.002909916	2015	HAMP	19	35284999	G	A
rs104894696	25117103	57817	HAMP	umls:C0002895	BeFree	We assessed the frequency of the G71D mutation of the HAMP gene and the H63D mutation of the HFE gene and the correlation between these mutations as well as the correlation between them and the iron overload in sickle cell disease (SCD) patients.	0.000814326	2015	HAMP	19	35284999	G	A
rs11968814	21326311	135152	B3GAT2	umls:C0002895	GAD	[Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.]	0.002367032	2011	LOC101928394	6	71067268	G	A
rs12073837	21326311	64757	1-Mar	umls:C0002895	GAD	[Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.]	0.002367032	2011	HLX-AS1	1	220836863	C	T
rs12559632	21326311	5251	PHEX	umls:C0002895	GAD	[Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.]	0.002367032	2011	PHEX	X	22142875	G	A
rs1318772	21326311	4163	MCC	umls:C0002895	GAD	[Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.]	0.002367032	2011	MCC	5	113387870	A	G
rs17135859	21326311	64848	YTHDC2	umls:C0002895	GAD	[Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.]	0.002367032	2011	NA	5	113660957	T	C
rs1799945	25117103	57817	HAMP	umls:C0002895	BeFree	We assessed the frequency of the G71D mutation of the HAMP gene and the H63D mutation of the HFE gene and the correlation between these mutations as well as the correlation between them and the iron overload in sickle cell disease (SCD) patients.	0.000814326	2015	HFE	6	26090951	C	G
rs1799945	25117103	3077	HFE	umls:C0002895	BeFree	We assessed the frequency of the G71D mutation of the HAMP gene and the H63D mutation of the HFE gene and the correlation between these mutations as well as the correlation between them and the iron overload in sickle cell disease (SCD) patients.	0.002909916	2015	HFE	6	26090951	C	G
rs1845344	21326311	8654	PDE5A	umls:C0002895	GAD	[Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.]	0.002909916	2011	NA	4	120041230	G	T
rs2107538	23900864	6352	CCL5	umls:C0002895	BeFree	Frequency of three polymorphisms of the CCL5 gene (rs2107538, rs2280788 and rs2280789) and their implications for the phenotypic expression of sickle cell anemia in Tunisia.	0.002638474	2013	CCL5;LOC105371744	17	35880776	C	T
rs2280788	23900864	6352	CCL5	umls:C0002895	BeFree	Frequency of three polymorphisms of the CCL5 gene (rs2107538, rs2280788 and rs2280789) and their implications for the phenotypic expression of sickle cell anemia in Tunisia.	0.002638474	2013	CCL5;LOC105371744	17	35880401	G	C
rs2280789	23900864	6352	CCL5	umls:C0002895	BeFree	Frequency of three polymorphisms of the CCL5 gene (rs2107538, rs2280788 and rs2280789) and their implications for the phenotypic expression of sickle cell anemia in Tunisia.	0.002638474	2013	CCL5;LOC105371744	17	35879999	A	G
rs2577720	21326311	338	APOB	umls:C0002895	GAD	[Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.]	0.005005506	2011	NA	2	23325743	A	C
rs334	NA	3043	HBB	umls:C0002895	CLINVAR	NA	0.57785996	NA	HBB	11	5227002	T	G,C,A
rs334	13464827	3043	HBB	umls:C0002895	UNIPROT	Gene mutations in human haemoglobin: the chemical difference between normal and sickle cell haemoglobin.	0.57785996	1957	HBB	11	5227002	T	G,C,A
rs33930165	NA	3043	HBB	umls:C0002895	CLINVAR	NA	0.57785996	NA	HBB	11	5227003	C	T,G
rs33946267	NA	3043	HBB	umls:C0002895	CLINVAR	NA	0.57785996	NA	HBB	11	5225678	C	T,G,A
rs33950507	NA	3043	HBB	umls:C0002895	CLINVAR	NA	0.57785996	NA	HBB	11	5226943	C	T,G,A
rs3800569	21326311	50617	ATP6V0A4	umls:C0002895	GAD	[Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.]	0.002367032	2011	ATP6V0A4	7	138726680	C	T
rs397507444	16987799	4524	MTHFR	umls:C0002895	BeFree	Association of the methylenetetrahydrofolate reductase A1298C but not the C677T single nucleotide polymorphism with sickle cell disease in Bahrain.	0.025103474	2006	MTHFR	1	11794407	T	G
rs41322052	14687036	4846	NOS3	umls:C0002895	BeFree	Association of T-786C eNOS gene polymorphism with increased susceptibility to acute chest syndrome in females with sickle cell disease.	0.009272631	2004	NOS3	7	150993018	C	T
rs4680	25102390	1814	DRD3	umls:C0002895	BeFree	Dopamine D3 receptor Ser9Gly and catechol-o-methyltransferase Val158Met polymorphisms and acute pain in sickle cell disease.	0.000271442	2015	COMT;MIR4761	22	19963748	G	A
rs4680	25102390	1312	COMT	umls:C0002895	BeFree	Dopamine D3 receptor Ser9Gly and catechol-o-methyltransferase Val158Met polymorphisms and acute pain in sickle cell disease.	0.000271442	2015	COMT;MIR4761	22	19963748	G	A
rs6280	25102390	1312	COMT	umls:C0002895	BeFree	Dopamine D3 receptor Ser9Gly and catechol-o-methyltransferase Val158Met polymorphisms and acute pain in sickle cell disease.	0.000271442	2015	DRD3	3	114171968	C	T
rs6280	25102390	1814	DRD3	umls:C0002895	BeFree	Dopamine D3 receptor Ser9Gly and catechol-o-methyltransferase Val158Met polymorphisms and acute pain in sickle cell disease.	0.000271442	2015	DRD3	3	114171968	C	T
rs660	19201475	6737	TRIM21	umls:C0002895	BeFree	rs660 polymorphism in Ro52 (SSA1; TRIM21) is a marker for age-dependent tolerance induction and efficiency of alloimmunization in sickle cell disease.	0.002638474	2009	NA	NA	NA	NA	NA
rs7203560	23406172	8131	NPRL3	umls:C0002895	GWASCAT	Genetic determinants of haemolysis in sickle cell anaemia.	0.12	2013	NPRL3	16	134391	T	G
rs766432	25042611	53335	BCL11A	umls:C0002895	GWASCAT	The genetics of hemoglobin A2 regulation in sickle cell anemia.	0.131725539	2014	BCL11A	2	60492835	C	A
rs766432	23406172	53335	BCL11A	umls:C0002895	GWASCAT	Genetic determinants of haemolysis in sickle cell anaemia.	0.131725539	2013	BCL11A	2	60492835	C	A
rs887829	22558097	54658	UGT1A1	umls:C0002895	GAD	[These results confirm that the UGT1A region is the major regulator of bilirubin metabolism in African Americans with sickle cell anemia, similar to what is observed in other ethnicities.]	0.028899779	2012	UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3	2	233759924	C	T

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:260)
CHR	POS	SNPID	REF	ALT	ORI_SNPID	PMID	P_VALUE	P_VALUE_TEXT	OR/BETA	CI95_TEXT	GWAS_INITIAL_SAMPLE_SIZE	SUB_POPULATION	SUPER_POPULATION	GWAS_TRAIT	HPO_ID	HPO_TERM	DO_ID	DO_TERM	MESH_ID	MESH_TERM	EFO_ID	EFO_TERM	DOLITE_TERM	RISK_ALLELE	PUBLICATION_TYPE	AA	GENE_SYMBOL	TYPE	REFGENE
1	20209469	rs12124726	A	C	rs12124726	20029952	2.55E-08	Sickle cell anemia severity	NA	NA	177 African American severe patients; 1088 African American mild patients	African American(1265)	ALL(1265)	AFR(1265)	ALL(1265)	Sickle cell anemia (severity)	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	NA	NA	NA	NA	Sickle cell disease	NA	Research Support, N.I.H., Extramural	A	OTUD3
1	44999614	rs746733	G	A	rs746733	21326311	3.55E-05	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	C	RNF220
1	56968477	rs4912314	C	T	rs4912314	20029952	2.02E-05	Sickle cell anemia severity	NA	NA	177 African American severe patients; 1088 African American mild patients	African American(1265)	ALL(1265)	AFR(1265)	ALL(1265)	Sickle cell anemia (severity)	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	NA	NA	NA	NA	Sickle cell disease	NA	Research Support, N.I.H., Extramural	T	PPAP2B
1	76680525	rs517036	T	C	rs517036	21326311	3.25E-06	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	A	ST6GALNAC3
1	76687275	rs547342	A	G	rs547342	21326311	1.09E-05	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	T	ST6GALNAC3
1	115355281	rs2798657	C	T	rs2798657	21326311	2.96E-05	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	T	NA
1	152514332	rs549044	C	T	rs549044	21326311	3.11E-05	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	G	NA
1	191220906	rs1246813	T	C	rs1246813	21326311	3.29E-05	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	G	NA
1	191397516	rs6700152	A	G	rs6700152	21326311	1.55E-05	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	A	NA
1	205423893	rs10900493	G	A	rs10900493	21326311	2.49E-05	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	G	NA
1	220988346	rs4143772	G	A	rs4143772	21326311	1.12E-05	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	G	NA
1	221001787	rs2279638	G	A	rs2279638	21326311	7.49E-06	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	G	NA
1	221010205	rs12073837	C	T	rs12073837	21326311	2.00E-06	NA	1.39	[0.82-1.96] unit increase	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	rs12073837-T	Research Support, N.I.H., Extramural	C	NA
1	221579628	rs3131533	A	G	rs3131533	21326311	2.14E-05	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	G	NA
1	226708481	rs584297	T	C	rs584297	21326311	3.26E-05	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	C	NA
1	238274904	rs12078672	T	C	rs12078672	20029952	2.51E-06	Sickle cell anemia severity	NA	NA	177 African American severe patients; 1088 African American mild patients	African American(1265)	ALL(1265)	AFR(1265)	ALL(1265)	Sickle cell anemia (severity)	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	NA	NA	NA	NA	Sickle cell disease	NA	Research Support, N.I.H., Extramural	T	NA
2	726564	rs3924384	T	C	rs3924384	20029952	1.50E-05	Sickle cell anemia severity	NA	NA	177 African American severe patients; 1088 African American mild patients	African American(1265)	ALL(1265)	AFR(1265)	ALL(1265)	Sickle cell anemia (severity)	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	NA	NA	NA	NA	Sickle cell disease	NA	Research Support, N.I.H., Extramural	A	NA
2	729948	rs7580986	G	T	rs7580986	20029952	2.35E-06	Sickle cell anemia severity	NA	NA	177 African American severe patients; 1088 African American mild patients	African American(1265)	ALL(1265)	AFR(1265)	ALL(1265)	Sickle cell anemia (severity)	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	NA	NA	NA	NA	Sickle cell disease	NA	Research Support, N.I.H., Extramural	T	NA
2	23548614	rs2577720	A	C	rs2577720	21326311	8.00E-06	NA	0.82	[0.47-1.17] unit decrease	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	rs2577720-C	Research Support, N.I.H., Extramural	T	NA
2	27405497	rs6709602	C	T	rs6709602	21326311	3.23E-05	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	C	NA
2	60603602	rs243033	G	C	rs243033	17767159	9.40E-05	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	C	NA
2	60603950	rs243032	G	A	rs243032	17767159	4.20E-07	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	C	NA
2	60605919	rs173373	C	T	rs173373	17767159	7.00E-09	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	G	NA
2	60606571	rs243030	C	T	rs243030	17767159	1.70E-08	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	A	NA
2	60606654	rs243029	C	T	rs243029	17767159	4.20E-08	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	A	NA
2	60607007	rs243027	T	G	rs243027	17767159	2.20E-10	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	C	NA
2	60607007	rs243027	T	G	rs243027	21326311	2.20E-10	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	C	NA
2	60607728	rs13027161	T	C	rs13027161	17767159	3.50E-08	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	T	NA
2	60608383	rs2668729	G	A	rs2668729	17767159	3.20E-08	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	G	NA
2	60608759	rs2540917	T	C	rs2540917	17767159	5.60E-09	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	A	NA
2	60608930	rs2540916	T	C	rs2540916	17767159	1.60E-07	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	A	NA
2	60609474	rs9967849	C	T	rs9967849	17767159	7.60E-09	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	C	NA
2	60609896	rs1553934	G	C	rs1553934	17767159	1.80E-08	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	G	NA
2	60611285	rs925483	G	A	rs925483	17767159	2.60E-09	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	G	NA
2	60611437	rs925484	C	G	rs925484	17767159	3.10E-09	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	C	NA
2	60612008	rs2137281	C	T	rs2137281	17767159	9.40E-10	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	C	NA
2	60612070	rs2137282	T	A	rs2137282	17767159	7.40E-05	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	T	NA
2	60612457	rs2137283	C	A	rs2137283	17767159	1.70E-09	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	A	NA
2	60613123	rs243082	C	T	rs243082	17767159	7.90E-05	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	G	NA
2	60613776	rs243081	G	A	rs243081	17767159	2.50E-12	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	C	NA
2	60614572	rs243080	G	A	rs243080	17767159	2.70E-08	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	C	NA
2	60615028	rs243079	A	C	rs243079	17767159	2.00E-09	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	G	NA
2	60615303	rs243078	A	G	rs243078	17767159	1.30E-08	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	T	NA
2	60616682	rs243077	A	G	rs243077	17767159	6.80E-04	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	C	NA
2	60617563	rs243076	G	A	rs243076	17767159	1.40E-08	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	C	NA
2	60617571	rs243075	T	C	rs243075	17767159	6.10E-04	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	G	NA
2	60618690	rs243073	T	C	rs243073	17767159	4.50E-04	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	G	NA
2	60619814	rs13401861	T	C	rs13401861	17767159	4.00E-04	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	T	NA
2	60620286	rs243070	T	A	rs243070	17767159	1.70E-05	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	A	NA
2	60621643	rs243067	G	T	rs243067	17767159	1.10E-08	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	C	NA
2	60621766	rs243066	A	G	rs243066	17767159	5.40E-10	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	T	NA
2	60622064	rs243065	G	C	rs243065	17767159	3.10E-09	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	C	NA
2	60622491	rs7589285	A	T	rs7589285	17767159	5.60E-04	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	A	NA
2	60622899	rs243063	A	T	rs243063	17767159	6.90E-09	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	T	NA
2	60623676	rs243062	G	A	rs243062	17767159	4.20E-10	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	T,C	NA
2	60623698	rs243061	T	C	rs243061	17767159	2.00E-09	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	A	NA
2	60626822	rs13011022	G	A	rs13011022	17767159	1.40E-09	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	A,G	NA
2	60627565	rs11125841	A	G	rs11125841	17767159	3.30E-08	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	G	NA
2	60629609	rs888082	G	A	rs888082	17767159	3.10E-09	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	T	NA
2	60631229	rs12995080	G	A	rs12995080	17767159	1.20E-05	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	G	NA
2	60633364	rs13009393	G	A	rs13009393	17767159	2.20E-10	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	G	NA
2	60636416	rs12464462	A	G	rs12464462	17767159	1.90E-09	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	G	NA
2	60636497	rs12472541	C	A	rs12472541	17767159	3.90E-04	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	C	NA
2	60637656	rs10445937	G	A	rs10445937	17767159	3.10E-09	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	A	NA
2	60639733	rs17330904	T	C	rs17330904	17767159	5.10E-04	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	T	NA
2	60639904	rs12476132	G	A	rs12476132	17767159	2.90E-09	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	G	NA
2	60640807	rs11125842	A	G	rs11125842	17767159	8.30E-08	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	G	NA
2	60641329	rs13028240	G	A	rs13028240	17767159	1.40E-05	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	G	NA
2	60649143	rs12997266	G	A	rs12997266	17767159	1.90E-09	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	G	LOC100506891
2	60650716	rs12104736	C	G	rs12104736	17767159	9.00E-09	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	C	LOC100506891
2	60652061	rs13013119	C	T	rs13013119	17767159	3.70E-05	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	C	NA
2	60655679	rs10490070	A	G	rs10490070	17767159	9.60E-05	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	G	NA
2	60656992	rs13011256	G	A	rs13011256	17767159	4.50E-05	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	G	NA
2	60657018	rs11894442	T	C	rs11894442	17767159	3.60E-08	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	C	NA
2	60659307	rs6718203	C	G	rs6718203	17767159	7.00E-04	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	C	NA
2	60660308	rs17402905	T	C	rs17402905	17767159	8.00E-05	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	C	NA
2	60660522	rs17402912	A	G	rs17402912	17767159	4.60E-05	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	G	NA
2	60662149	rs17331017	C	A	rs17331017	17767159	6.40E-05	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	C	NA
2	60665768	rs1011407	A	G	rs1011407	17767159	4.10E-04	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	T	NA
2	60666075	rs1011406	C	G	rs1011406	17767159	6.90E-04	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	G	NA
2	60668890	rs10490071	G	A	rs10490071	17767159	5.30E-05	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	G	NA
2	60669494	rs11884411	T	C	rs11884411	17767159	1.90E-09	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	C	NA
2	60669931	rs10490072	T	C	rs10490072	17767159	3.10E-04	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	T	NA
2	60670477	rs12468946	A	G	rs12468946	17767159	7.30E-09	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	G	NA
2	60671339	rs17028192	C	T	rs17028192	17767159	3.10E-04	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	C	NA
2	60672255	rs13034649	C	T	rs13034649	17767159	5.70E-05	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	C	NA
2	60679942	rs17331129	T	C	rs17331129	17767159	1.00E-05	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	T	BCL11A
2	60698397	rs12477097	A	C	rs12477097	17767159	4.10E-04	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	A	BCL11A
2	60702766	rs733628	T	C	rs733628	17767159	5.70E-04	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	A	BCL11A
2	60705608	rs34737760	C	G	rs34737760	17767159	2.50E-04	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	G	BCL11A
2	60706259	rs45445891	T	G	rs45445891	17767159	3.90E-04	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	G	BCL11A
2	60707038	rs12992182	C	A	rs12992182	17767159	2.50E-04	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	C	BCL11A
2	60707182	rs12997966	G	A	rs12997966	17767159	2.10E-04	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	G	BCL11A
2	60707894	rs7579014	G	A	rs7579014	17767159	1.20E-06	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	A	BCL11A
2	60707941	rs35908689	C	G	rs35908689	17767159	2.50E-04	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	C	BCL11A
2	60708597	rs6732518	C	T	rs6732518	17767159	1.10E-21	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	C	BCL11A
2	60708597	rs6732518	C	T	rs6732518	21326311	2.87E-09	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	C	BCL11A
2	60710571	rs13019832	G	A	rs13019832	17767159	7.60E-12	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	A	BCL11A
2	60710738	rs11692396	G	A	rs11692396	17767159	7.90E-12	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	A	BCL11A
2	60713235	rs10189857	A	G	rs10189857	21326311	2.00E-07	NA	1.07	[0.68-1.46] unit increase	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	A	BCL11A
2	60714861	rs6545816	A	C	rs6545816	21326311	2.00E-07	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	A	BCL11A
2	60715179	rs6545817	C	T	rs6545817	21326311	2.00E-07	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	C	BCL11A
2	60716308	rs13024177	G	C	rs13024177	17767159	5.90E-04	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	G	BCL11A
2	60717399	rs13031396	G	T	rs13031396	17767159	2.10E-04	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	G	BCL11A
2	60718043	rs1427407	T	G	rs1427407	17767159	6.00E-31	NA	13.1	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	G	BCL11A
2	60718043	rs1427407	T	G	rs1427407	21326311	2.00E-07	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	G	BCL11A
2	60718347	rs7599488	C	T	rs7599488	21326311	2.00E-07	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	C	BCL11A
2	60718848	rs1896293	G	T	rs1896293	17767159	2.00E-07	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	G	BCL11A
2	60719074	rs1896294	C	T	rs1896294	17767159	1.70E-10	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	T	BCL11A
2	60719074	rs1896294	C	T	rs1896294	21326311	2.00E-07	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	T	BCL11A
2	60719918	rs766431	A	G	rs766431	17767159	2.70E-07	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	A	BCL11A
2	60719970	rs766432	C	A	rs766432	17767159	1.80E-28	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	A	BCL11A
2	60719970	rs766432	C	A	rs766432	21326311	2.00E-07	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	A	BCL11A
2	60719970	rs766432	C	A	rs766432	23406172	9.00E-07	NA	0.22	[NA] unit increase	1,117 individuals	NOPOP(1117)	ALL(1117)	NOPOP(1117)	ALL(1117)	Sickle cell anemia (haemolysis)	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	NA	NA	sickle cell anemia	Sickle cell disease	NA	Multicenter Study	Clinical Trial	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't
2	60720246	rs11886868	C	T	rs11886868	17767159	4.20E-11	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	T	BCL11A
2	60720246	rs11886868	C	T	rs11886868	21326311	2.00E-07	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	T	BCL11A
2	60720589	rs10195871	A	G	rs10195871	17767159	5.40E-11	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	G	BCL11A
2	60720589	rs10195871	A	G	rs10195871	21326311	2.00E-07	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	G	BCL11A
2	60720757	rs10172646	G	A	rs10172646	17767159	4.30E-11	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	A	BCL11A
2	60720757	rs10172646	G	A	rs10172646	21326311	2.00E-07	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	A	BCL11A
2	60720951	rs4671393	A	G	rs4671393	17767159	2.60E-27	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	G	BCL11A
2	60720951	rs4671393	A	G	rs4671393	21326311	2.00E-07	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	G	BCL11A
2	60721311	rs7584113	A	G	rs7584113	17767159	2.90E-10	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	G	BCL11A
2	60721311	rs7584113	A	G	rs7584113	21326311	2.00E-07	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	G	BCL11A
2	60721347	rs7557939	G	A	rs7557939	17767159	4.60E-11	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	G	BCL11A
2	60721347	rs7557939	G	A	rs7557939	21326311	2.00E-07	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	G	BCL11A
2	60722040	rs6706648	C	T	rs6706648	17767159	9.30E-08	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	T	BCL11A
2	60722040	rs6706648	C	T	rs6706648	21326311	2.00E-07	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	T	BCL11A
2	60722241	rs6738440	A	G	rs6738440	17767159	6.00E-06	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	A	BCL11A
2	60722241	rs6738440	A	G	rs6738440	21326311	2.00E-07	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	A	BCL11A
2	60723266	rs7565301	G	A	rs7565301	21326311	2.00E-07	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	G	BCL11A
2	60723672	rs6729815	T	C	rs6729815	21326311	2.00E-07	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	C	BCL11A
2	60724086	rs1896295	T	C	rs1896295	21326311	2.00E-07	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	C	BCL11A
2	60724087	rs1896296	G	T	rs1896296	21326311	2.00E-07	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	T	BCL11A
2	60725451	rs7606173	G	C	rs7606173	21326311	2.00E-07	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	G	BCL11A
2	60727629	rs6709302	G	A	rs6709302	17767159	1.10E-05	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	G	BCL11A
2	60727629	rs6709302	G	A	rs6709302	21326311	8.90E-10	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	G	BCL11A
2	66878488	rs11695019	A	G	rs11695019	21326311	3.32E-05	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	A	NA
2	73574591	rs6718864	A	G	rs6718864	21326311	9.03E-06	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	G	NA
2	75075255	rs680545	G	A	rs680545	20029952	5.92E-06	Sickle cell anemia severity	NA	NA	177 African American severe patients; 1088 African American mild patients	African American(1265)	ALL(1265)	AFR(1265)	ALL(1265)	Sickle cell anemia (severity)	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	NA	NA	NA	NA	Sickle cell disease	NA	Research Support, N.I.H., Extramural	T	HK2
2	114001363	rs3768768	A	G	rs3768768	21326311	2.32E-05	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	C	PAX8
2	234668570	rs887829	C	T	rs887829	22558097	5.00E-25	NA	0.19	[NA] unit increase	905 African American cases	African American(905)	ALL(905)	AFR(905)	ALL(905)	Cholelithiasis-related traits in sickle cell anemia	HPOID:0001081	HPOID:0008346	Cholelithiasis	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D012805	Sickle Cell Trait	EFOID:0004799	sickle cell anemia	Sickle cell disease	rs887829-A	Research Support, N.I.H., Extramural
3	50525017	rs1467913	C	A	rs1467913	21326311	5.19E-06	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	T	CACNA2D2
3	56877788	rs10510789	C	T	rs10510789	21326311	1.45E-05	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	C	ARHGEF3
3	57186035	rs4535195	A	C	rs4535195	17767159	1.00E-05	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	C	IL17RD
3	126220539	rs9844797	A	G	rs9844797	21326311	4.49E-05	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	G	UROC1
3	145287372	rs2695775	C	A	rs2695775	21326311	2.33E-05	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	A	NA
3	161544997	rs13061797	T	C	rs13061797	20029952	1.28E-06	Sickle cell anemia severity	NA	NA	177 African American severe patients; 1088 African American mild patients	African American(1265)	ALL(1265)	AFR(1265)	ALL(1265)	Sickle cell anemia (severity)	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	NA	NA	NA	NA	Sickle cell disease	NA	Research Support, N.I.H., Extramural	T	NA
4	6168155	rs6446469	A	G	rs6446469	21326311	3.60E-05	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	G	JAKMIP1
4	7174993	rs9999241	A	G	rs9999241	17767159	1.00E-05	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	G	NA
4	76194403	rs7696346	C	T	rs7696346	21326311	1.57E-05	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	T	NA
4	90983723	rs2120372	A	G	rs2120372	21326311	4.62E-06	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	C	NA
4	92855968	rs321717	T	C	rs321717	20029952	1.21E-06	Sickle cell anemia severity	NA	NA	177 African American severe patients; 1088 African American mild patients	African American(1265)	ALL(1265)	AFR(1265)	ALL(1265)	Sickle cell anemia (severity)	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	NA	NA	NA	NA	Sickle cell disease	NA	Research Support, N.I.H., Extramural	G	NA
4	120962385	rs1845344	G	T	rs1845344	21326311	7.00E-06	NA	0.97	[0.56-1.38] unit increase	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	rs1845344-T	Research Support, N.I.H., Extramural	G	NA
4	121481950	rs4395533	G	A	rs4395533	21326311	2.08E-05	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	A	NA
4	121513215	rs10017284	A	G	rs10017284	21326311	6.00E-06	NA	0.85	[0.50-1.20] unit decrease	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	rs10017284-G	Research Support, N.I.H., Extramural	A	NA
5	4586832	rs293064	T	C	rs293064	21326311	2.51E-05	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	C	NA
5	6788282	rs274646	A	G	rs274646	20029952	1.14E-05	Sickle cell anemia severity	NA	NA	177 African American severe patients; 1088 African American mild patients	African American(1265)	ALL(1265)	AFR(1265)	ALL(1265)	Sickle cell anemia (severity)	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	NA	NA	NA	NA	Sickle cell disease	NA	Research Support, N.I.H., Extramural	C	NA
5	9156012	rs886509	T	C	rs886509	17767159	1.00E-05	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	A	SEMA5A
5	26907873	rs1156358	A	G	rs1156358	20029952	1.10E-06	Sickle cell anemia severity	NA	NA	177 African American severe patients; 1088 African American mild patients	African American(1265)	ALL(1265)	AFR(1265)	ALL(1265)	Sickle cell anemia (severity)	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	NA	NA	NA	NA	Sickle cell disease	NA	Research Support, N.I.H., Extramural	T	CDH9
5	51917914	rs830868	G	T	rs830868	21326311	1.12E-05	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	T	NA
5	112723567	rs1318772	A	G	rs1318772	21326311	1.00E-06	NA	0.91	[0.54-1.28] unit decrease	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	rs1318772-G	Research Support, N.I.H., Extramural	A	MCC
5	112981528	rs12189067	C	A	rs12189067	21326311	1.13E-05	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	C	NA
5	112996654	rs17135859	T	C	rs17135859	21326311	8.00E-06	NA	0.97	[0.54-1.40] unit increase	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	rs17135859-C	Research Support, N.I.H., Extramural	T	NA
5	134493323	rs17660170	G	T	rs17660170	21326311	1.40E-05	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	G	NA
5	155809052	rs7715464	G	A	rs7715464	21326311	3.87E-06	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	G	SGCD
5	171268203	rs6891834	C	T	rs6891834	21326311	2.39E-05	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	C	NA
6	13240272	rs202062	A	G	rs202062	20029952	3.61E-06	Sickle cell anemia severity	NA	NA	177 African American severe patients; 1088 African American mild patients	African American(1265)	ALL(1265)	AFR(1265)	ALL(1265)	Sickle cell anemia (severity)	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	NA	NA	NA	NA	Sickle cell disease	NA	Research Support, N.I.H., Extramural	T	PHACTR1
6	28555450	rs411538	C	T	rs411538	20029952	2.17E-06	Sickle cell anemia severity	NA	NA	177 African American severe patients; 1088 African American mild patients	African American(1265)	ALL(1265)	AFR(1265)	ALL(1265)	Sickle cell anemia (severity)	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	NA	NA	NA	NA	Sickle cell disease	NA	Research Support, N.I.H., Extramural	C	SCAND3
6	71776971	rs11968814	G	A	rs11968814	21326311	9.00E-07	NA	1.17	[0.70-1.64] unit decrease	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	rs11968814-A	Research Support, N.I.H., Extramural	G	NA
6	135382980	rs6904897	T	G	rs6904897	17767159	1.20E-06	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	G	NA
6	135382980	rs6904897	T	G	rs6904897	21326311	1.20E-06	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	G	NA
6	135419018	rs9399137	T	C	rs9399137	17767159	3.00E-36	NA	15.8	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	T	NA
6	135419018	rs9399137	T	C	rs9399137	21326311	2.50E-36	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	T	NA
6	135426573	rs4895441	A	G	rs4895441	21326311	1.60E-20	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	A	NA
6	135443212	rs1320963	A	G	rs1320963	17767159	4.10E-15	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	G	NA
6	135443212	rs1320963	A	G	rs1320963	21326311	4.10E-15	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	G	NA
6	148178358	rs3850229	G	A	rs3850229	21326311	1.06E-05	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	G	NA
6	155978097	rs9480179	C	T	rs9480179	20029952	9.71E-06	Sickle cell anemia severity	NA	NA	177 African American severe patients; 1088 African American mild patients	African American(1265)	ALL(1265)	AFR(1265)	ALL(1265)	Sickle cell anemia (severity)	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	NA	NA	NA	NA	Sickle cell disease	NA	Research Support, N.I.H., Extramural	C	NA
6	160384403	rs6934383	A	G	rs6934383	20029952	1.50E-05	Sickle cell anemia severity	NA	NA	177 African American severe patients; 1088 African American mild patients	African American(1265)	ALL(1265)	AFR(1265)	ALL(1265)	Sickle cell anemia (severity)	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	NA	NA	NA	NA	Sickle cell disease	NA	Research Support, N.I.H., Extramural	G	NA
7	22000425	rs6461625	G	A	rs6461625	20029952	2.70E-06	Sickle cell anemia severity	NA	NA	177 African American severe patients; 1088 African American mild patients	African American(1265)	ALL(1265)	AFR(1265)	ALL(1265)	Sickle cell anemia (severity)	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	NA	NA	NA	NA	Sickle cell disease	NA	Research Support, N.I.H., Extramural	G	NA
7	68701972	rs12667374	G	A	rs12667374	17767159	1.00E-05	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	G	NA
7	70471892	rs1949857	C	T	rs1949857	21326311	1.62E-05	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	T	NA
7	115082872	rs9641540	A	C	rs9641540	20029952	1.33E-05	Sickle cell anemia severity	NA	NA	177 African American severe patients; 1088 African American mild patients	African American(1265)	ALL(1265)	AFR(1265)	ALL(1265)	Sickle cell anemia (severity)	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	NA	NA	NA	NA	Sickle cell disease	NA	Research Support, N.I.H., Extramural	C	NA
7	138411425	rs3800569	C	T	rs3800569	21326311	6.00E-06	NA	1.2	[0.69-1.71] unit increase	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	rs3800569-C	Research Support, N.I.H., Extramural	A	ATP6V0A4
8	4676416	rs17071569	T	G	rs17071569	21326311	3.32E-05	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	T	CSMD1
8	19540122	rs11985450	C	T	rs11985450	21326311	4.75E-05	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	T	CSGALNACT1
8	95124056	rs4421324	A	G	rs4421324	20029952	2.37E-06	Sickle cell anemia severity	NA	NA	177 African American severe patients; 1088 African American mild patients	African American(1265)	ALL(1265)	AFR(1265)	ALL(1265)	Sickle cell anemia (severity)	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	NA	NA	NA	NA	Sickle cell disease	NA	Research Support, N.I.H., Extramural	A	NA
8	128435924	rs6470511	A	G	rs6470511	21326311	5.06E-05	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	A	NA
8	132441048	rs1430317	T	C	rs1430317	20029952	3.60E-06	Sickle cell anemia severity	NA	NA	177 African American severe patients; 1088 African American mild patients	African American(1265)	ALL(1265)	AFR(1265)	ALL(1265)	Sickle cell anemia (severity)	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	NA	NA	NA	NA	Sickle cell disease	NA	Research Support, N.I.H., Extramural	A	NA
9	3338749	rs10971465	A	G	rs10971465	20029952	3.44E-06	Sickle cell anemia severity	NA	NA	177 African American severe patients; 1088 African American mild patients	African American(1265)	ALL(1265)	AFR(1265)	ALL(1265)	Sickle cell anemia (severity)	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	NA	NA	NA	NA	Sickle cell disease	NA	Research Support, N.I.H., Extramural	A	RFX3
9	3344786	rs7036456	G	A	rs7036456	20029952	3.26E-07	Sickle cell anemia severity	NA	NA	177 African American severe patients; 1088 African American mild patients	African American(1265)	ALL(1265)	AFR(1265)	ALL(1265)	Sickle cell anemia (severity)	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	NA	NA	NA	NA	Sickle cell disease	NA	Research Support, N.I.H., Extramural	G	RFX3
9	7603506	rs3864785	G	C	rs3864785	22679008	0.000000048	NA	NA	NA	112 cases; 63 controls	NOPOP(175)	ALL(175)	NOPOP(175)	ALL(175)	Sickle cell anemia	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	NA	NA	NA	NA	Sickle cell disease	NA	Research Support, N.I.H., Extramural	C	NA
9	17899606	rs1977882	C	A,G,T	rs1977882	21326311	4.24E-05	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	C	NA
9	19712170	rs7869360	G	A	rs7869360	21326311	3.52E-05	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	G	SLC24A2
9	29336303	rs16914695	A	G	rs16914695	21326311	9.61E-06	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	A	NA
9	96138557	rs1931371	A	G	rs1931371	21326311	1.81E-05	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	A	NA
9	134836197	rs7032759	T	C	rs7032759	21326311	2.19E-05	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	C	MED27
10	7144255	rs2462692	T	A,C,G	rs2462692	20029952	2.33E-19	Sickle cell anemia severity	NA	NA	177 African American severe patients; 1088 African American mild patients	African American(1265)	ALL(1265)	AFR(1265)	ALL(1265)	Sickle cell anemia (severity)	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	NA	NA	NA	NA	Sickle cell disease	NA	Research Support, N.I.H., Extramural	C	NA
10	29938853	rs12412148	G	A	rs12412148	21326311	2.86E-05	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	G	SVIL
10	33583089	rs4934871	G	A	rs4934871	21326311	1.63E-05	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	G	NRP1
10	88637677	rs2125053	G	A	rs2125053	20029952	9.77E-06	Sickle cell anemia severity	NA	NA	177 African American severe patients; 1088 African American mild patients	African American(1265)	ALL(1265)	AFR(1265)	ALL(1265)	Sickle cell anemia (severity)	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	NA	NA	NA	NA	Sickle cell disease	NA	Research Support, N.I.H., Extramural	A	BMPR1A
11	4953462	rs840716	G	T	rs840716	21326311	9.30E-09	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	G	NA
11	5029703	rs2445284	C	T	rs2445284	23406172	1.00E-29	NA	0.82	[0.68-0.96] unit decrease	1,117 individuals	NOPOP(1117)	ALL(1117)	NOPOP(1117)	ALL(1117)	Sickle cell anemia (haemolysis)	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	NA	NA	sickle cell anemia	Sickle cell disease	rs2445284-G	Multicenter Study	Clinical Trial	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't
11	5214413	rs10837540	T	A	rs10837540	21326311	1.80E-07	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	A	NA
11	5222379	rs7937649	G	A	rs7937649	21326311	7.30E-08	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	A	NA
11	5260576	rs968856	T	C	rs968856	21326311	6.70E-07	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	A	NA
11	5276169	rs7482144	G	A	rs7482144	17767159	2.40E-38	NA	NA	NA	179 adults in upper and lower 5%	NOPOP(179)	ALL(179)	NOPOP(179)	ALL(179)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, Non-U.S. Gov't	G	LOC100653006
11	5276169	rs7482144	G	A	rs7482144	21326311	2.40E-38	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	G	LOC100653006
11	5306509	rs4910742	G	A	rs4910742	21326311	1.20E-21	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	A	NA
11	5373251	rs5006884	C	T	rs5006884	21326311	2.72E-08	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	C	OR51B6
11	5455929	rs1391619	G	A	rs1391619	21326311	1.10E-09	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	T	OR51B5
11	5471746	rs7948471	G	A	rs7948471	23406172	3.00E-10	NA	0.26	[0.18-0.34] unit decrease	1,117 individuals	NOPOP(1117)	ALL(1117)	NOPOP(1117)	ALL(1117)	Sickle cell anemia (haemolysis)	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	NA	NA	sickle cell anemia	Sickle cell disease	rs7948471-A	Multicenter Study	Clinical Trial	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't
11	44492899	rs357917	A	G	rs357917	20029952	1.30E-05	Sickle cell anemia severity	NA	NA	177 African American severe patients; 1088 African American mild patients	African American(1265)	ALL(1265)	AFR(1265)	ALL(1265)	Sickle cell anemia (severity)	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	NA	NA	NA	NA	Sickle cell disease	NA	Research Support, N.I.H., Extramural	T	NA
11	93299743	rs7124828	G	T	rs7124828	20029952	5.56E-09	Sickle cell anemia severity	NA	NA	177 African American severe patients; 1088 African American mild patients	African American(1265)	ALL(1265)	AFR(1265)	ALL(1265)	Sickle cell anemia (severity)	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	NA	NA	NA	NA	Sickle cell disease	NA	Research Support, N.I.H., Extramural	G	NA
11	124461274	rs7127399	G	A	rs7127399	20029952	2.24E-05	Sickle cell anemia severity	NA	NA	177 African American severe patients; 1088 African American mild patients	African American(1265)	ALL(1265)	AFR(1265)	ALL(1265)	Sickle cell anemia (severity)	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	NA	NA	NA	NA	Sickle cell disease	NA	Research Support, N.I.H., Extramural	A	NA
12	3556350	rs6489469	G	A	rs6489469	20029952	1.31E-05	Sickle cell anemia severity	NA	NA	177 African American severe patients; 1088 African American mild patients	African American(1265)	ALL(1265)	AFR(1265)	ALL(1265)	Sickle cell anemia (severity)	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	NA	NA	NA	NA	Sickle cell disease	NA	Research Support, N.I.H., Extramural	A	PRMT8
12	12052702	rs2954930	G	A	rs2954930	21326311	2.66E-05	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	A	NA
12	13120851	rs1486329	C	T	rs1486329	20029952	8.10E-07	Sickle cell anemia severity	NA	NA	177 African American severe patients; 1088 African American mild patients	African American(1265)	ALL(1265)	AFR(1265)	ALL(1265)	Sickle cell anemia (severity)	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	NA	NA	NA	NA	Sickle cell disease	NA	Research Support, N.I.H., Extramural	T	NA
12	27059422	rs1488051	T	C	rs1488051	21326311	2.39E-05	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	G	ASUN
12	115616315	rs16945105	C	T	rs16945105	21326311	1.79E-05	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	C	NA
12	131078425	rs7969337	G	A	rs7969337	21326311	2.74E-05	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	G	NA
12	131088522	rs2129663	T	G	rs2129663	21326311	7.53E-06	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	C	NA
13	22315063	rs596837	C	T	rs596837	20029952	1.80E-05	Sickle cell anemia severity	NA	NA	177 African American severe patients; 1088 African American mild patients	African American(1265)	ALL(1265)	AFR(1265)	ALL(1265)	Sickle cell anemia (severity)	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	NA	NA	NA	NA	Sickle cell disease	NA	Research Support, N.I.H., Extramural	C	NA
13	90259291	rs2655738	A	G	rs2655738	20029952	6.91E-05	Sickle cell anemia severity	NA	NA	177 African American severe patients; 1088 African American mild patients	African American(1265)	ALL(1265)	AFR(1265)	ALL(1265)	Sickle cell anemia (severity)	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	NA	NA	NA	NA	Sickle cell disease	NA	Research Support, N.I.H., Extramural	G	NA
13	90694767	rs2637385	A	C	rs2637385	20029952	5.39E-06	Sickle cell anemia severity	NA	NA	177 African American severe patients; 1088 African American mild patients	African American(1265)	ALL(1265)	AFR(1265)	ALL(1265)	Sickle cell anemia (severity)	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	NA	NA	NA	NA	Sickle cell disease	NA	Research Support, N.I.H., Extramural	G	NA
14	20903778	rs8017682	G	A	rs8017682	21326311	3.72E-05	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	G	KLHL33
14	68973546	rs757369	A	G	rs757369	21326311	2.83E-05	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	G	RAD51B
14	96556268	rs3742480	G	T	rs3742480	21326311	4.92E-05	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	C	C14orf132
15	68058903	rs11071959	A	G	rs11071959	21326311	9.89E-06	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	A	MAP2K5
15	78806023	rs8034191	T	C	rs8034191	21326311	3.68E-06	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	T	AGPHD1
15	89355911	rs12439075	C	T	rs12439075	20029952	6.70E-05	Sickle cell anemia severity	NA	NA	177 African American severe patients; 1088 African American mild patients	African American(1265)	ALL(1265)	AFR(1265)	ALL(1265)	Sickle cell anemia (severity)	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	NA	NA	NA	NA	Sickle cell disease	NA	Research Support, N.I.H., Extramural	T	ACAN
16	184390	rs7203560	T	G	rs7203560	23406172	2.00E-09	NA	0.44	[0.30-0.58] unit decrease	1,117 individuals	NOPOP(1117)	ALL(1117)	NOPOP(1117)	ALL(1117)	Sickle cell anemia (haemolysis)	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	NA	NA	sickle cell anemia	Sickle cell disease	rs7203560-C	Multicenter Study	Clinical Trial	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't
16	78688144	rs2113120	T	C	rs2113120	21326311	2.55E-05	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	G	WWOX
17	9564861	rs274907	T	G	rs274907	21326311	2.42E-05	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	C	USP43
17	9696883	rs4791866	C	T	rs4791866	21326311	6.24E-06	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	T	NA
17	9698342	rs12103880	G	A	rs12103880	21326311	3.41E-08	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	G	NA
17	71898105	rs8065308	C	T	rs8065308	20029952	1.30E-06	Sickle cell anemia severity	NA	NA	177 African American severe patients; 1088 African American mild patients	African American(1265)	ALL(1265)	AFR(1265)	ALL(1265)	Sickle cell anemia (severity)	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	NA	NA	NA	NA	Sickle cell disease	NA	Research Support, N.I.H., Extramural	T	NA
18	35515421	rs12969251	A	G	rs12969251	20029952	3.66E-08	Sickle cell anemia severity	NA	NA	177 African American severe patients; 1088 African American mild patients	African American(1265)	ALL(1265)	AFR(1265)	ALL(1265)	Sickle cell anemia (severity)	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	NA	NA	NA	NA	Sickle cell disease	NA	Research Support, N.I.H., Extramural	A	NA
18	47725047	rs1397677	C	T	rs1397677	21326311	3.15E-05	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	C	NA
18	47835784	rs9304395	G	T	rs9304395	21326311	2.04E-05	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	T	NA
18	51184594	rs1442080	G	A	rs1442080	21326311	2.86E-05	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	T	NA
18	60287284	rs10439027	T	C	rs10439027	21326311	2.40E-05	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	T	NA
18	65429532	rs11874977	A	G	rs11874977	21326311	5.32E-05	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	A	LOC643542
18	75333250	rs1521475	C	T	rs1521475	20029952	6.44E-06	Sickle cell anemia severity	NA	NA	177 African American severe patients; 1088 African American mild patients	African American(1265)	ALL(1265)	AFR(1265)	ALL(1265)	Sickle cell anemia (severity)	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	NA	NA	NA	NA	Sickle cell disease	NA	Research Support, N.I.H., Extramural	A	NA
19	22438069	rs283147	A	C	rs283147	21326311	3.68E-05	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	A	NA
19	38807184	rs3843754	G	A	rs3843754	20029952	1.82E-05	Sickle cell anemia severity	NA	NA	177 African American severe patients; 1088 African American mild patients	African American(1265)	ALL(1265)	AFR(1265)	ALL(1265)	Sickle cell anemia (severity)	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	NA	NA	NA	NA	Sickle cell disease	NA	Research Support, N.I.H., Extramural	A	NA
19	38882781	rs12609878	T	G	rs12609878	20029952	1.60E-05	Sickle cell anemia severity	NA	NA	177 African American severe patients; 1088 African American mild patients	African American(1265)	ALL(1265)	AFR(1265)	ALL(1265)	Sickle cell anemia (severity)	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	NA	NA	NA	NA	Sickle cell disease	NA	Research Support, N.I.H., Extramural	G	SPRED3
20	23489678	rs3004119	C	T	rs3004119	20029952	1.61E-06	Sickle cell anemia severity	NA	NA	177 African American severe patients; 1088 African American mild patients	African American(1265)	ALL(1265)	AFR(1265)	ALL(1265)	Sickle cell anemia (severity)	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	NA	NA	NA	NA	Sickle cell disease	NA	Research Support, N.I.H., Extramural	T	NA
20	44072196	rs2745061	C	T	rs2745061	20029952	1.49E-09	Sickle cell anemia severity	NA	NA	177 African American severe patients; 1088 African American mild patients	African American(1265)	ALL(1265)	AFR(1265)	ALL(1265)	Sickle cell anemia (severity)	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	NA	NA	NA	NA	Sickle cell disease	NA	Research Support, N.I.H., Extramural	C	NA
20	58544820	rs723680	G	A	rs723680	20029952	4.60E-06	Sickle cell anemia severity	NA	NA	177 African American severe patients; 1088 African American mild patients	African American(1265)	ALL(1265)	AFR(1265)	ALL(1265)	Sickle cell anemia (severity)	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	NA	NA	NA	NA	Sickle cell disease	NA	Research Support, N.I.H., Extramural	C	CDH26
21	33002145	rs1008270	C	A	rs1008270	20029952	3.62E-06	Sickle cell anemia severity	NA	NA	177 African American severe patients; 1088 African American mild patients	African American(1265)	ALL(1265)	AFR(1265)	ALL(1265)	Sickle cell anemia (severity)	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	NA	NA	NA	NA	Sickle cell disease	NA	Research Support, N.I.H., Extramural	A	NA
22	50999182	rs140518	C	T	rs140518	21326311	1.30E-05	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	A	SYCE3
X	5972382	rs1882411	C	T	rs1882411	21326311	1.88E-05	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	C	NLGN4X
X	6003778	rs5915642	T	C	rs5915642	21326311	1.13E-05	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	T	NLGN4X
X	6009208	rs6639594	C	T	rs6639594	21326311	7.78E-06	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	T	NLGN4X
X	22160992	rs12559632	G	A	rs12559632	21326311	3.00E-06	NA	1.16	[0.69-1.63] unit decrease	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	rs12559632-A	Research Support, N.I.H., Extramural	G	PHEX
X	22997533	rs5926195	A	G	rs5926195	21326311	2.44E-05	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	A	NA
X	25735888	rs1025952	C	T	rs1025952	21326311	6.00E-06	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	C	NA
X	25736480	rs6630120	A	G	rs6630120	21326311	1.48E-05	NA	NA	NA	440 African ancestry individuals	African(440)	ALL(440)	AFR(440)	ALL(440)	F-cell distribution	HPOID:0008346	Increased red cell sickling tendency	DOID:10923	sickle cell anemia	D005319	Fetal Hemoglobin	EFOID:0004576	sickle cell anemia	Sickle cell disease	NA	Research Support, N.I.H., Extramural	A	NA

Mapped by lexical matching(Total Items:9)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0001743	Abnormality of the spleen	MP:0004485	increased response of heart to induced stress	increase in severity of the physiological response of the heart to induced stress such as cardiac hypertrophy due to mechanical pressure overload from aortic banding
HP:0001931	Hypochromic anemia	MP:0008387	hypochromic anemia	hemoglobin deficiency resulting from a reduction in the concentration of hemoglobin in red cells, resulting in insufficient oxygenation of tissues and organs
HP:0001935	Microcytic anemia	MP:0001577	anemia	less than normal levels of red blood cells and/or hemoglobin within red blood cells, or volume of packed red blood cells in the bloodstream, resulting in insufficient oxygenation of tissues and organs
HP:0000707	Abnormality of the nervous system	MP:0013620	increased internal diameter of femur	increased cross-sectional distance that extends from one lateral edge of the femur long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the femur
HP:0011904	Persistence of hemoglobin F	MP:0010178	increased number of Howell-Jolly bodies	abnormal presence of basophilic nuclear remnants of condensed DNA (1 to 2 um in diameter) in circulating erythrocytes, typically seen in severe hemolytic anemias or after splenectomy; these inclusions are normally removed by the spleen but will persist in
HP:0010885	Aseptic necrosis	MP:0001654	hepatic necrosis	morphological changes resulting from pathological death of liver tissue; usually due to irreversible damage
HP:0001878	Hemolytic anemia	MP:0008388	hypochromic microcytic anemia	hemoglobin deficiency resulting from a reduction in the concentration of hemoglobin in red cells, where the erythrocyte corpuscular volume is smaller than normal
HP:0001891	Iron deficiency anemia	MP:0002810	microcytic anemia	a reduction in the mean total mass of erythrocytes in which the remaining circulating erythrocyte corpuscular volume is smaller than normal; most commonly due to iron deficiency but also sickle cell disease and other conditions that result in hemoglobin s
HP:0004870	Chronic hemolytic anemia	MP:0001585	hemolytic anemia	deficiency of red cells resulting from an increased rate of erythrocyte destruction

Mapped by homologous gene(Total Items:30)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0012531	Pain	MP:0011968	decreased threshold for auditory brainstem response	reduction in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system
HP:0001640	Cardiomegaly	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0002754	Osteomyelitis	MP:0020080	increased bone mineralization	increase in the rate at which minerals are deposited into bone
HP:0003259	Elevated serum creatinine	MP:0020216	decreased circulating complement protein level	less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes
HP:0001878	Hemolytic anemia	MP:0020154	impaired humoral immune response	impaired response of the immune system that mediates secreted antibodies produced in B cells
HP:0001081	Cholelithiasis	MP:0020220	decreased tear production	decreased production of the amount of fluid produced in the eye
HP:0002240	Hepatomegaly	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0001396	Cholestasis	MP:0013504	increased embryonic tissue cell apoptosis	increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death
HP:0001744	Splenomegaly	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0000707	Abnormality of the nervous system	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0000939	Osteoporosis	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0011904	Persistence of hemoglobin F	MP:0020039	increased bone ossification	increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance
HP:0000952	Jaundice	MP:0020215	impaired blood coagulation	impaired ability of the blood to clot
HP:0010885	Aseptic necrosis	MP:0013501	increased fibroblast apoptosis	increase in the timing or the number of fibroblast cells undergoing programmed cell death
HP:0000790	Hematuria	MP:0020316	decreased vascular endothelial cell proliferation	decrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0001891	Iron deficiency anemia	MP:0020154	impaired humoral immune response	impaired response of the immune system that mediates secreted antibodies produced in B cells
HP:0001743	Abnormality of the spleen	MP:0013696	increased granulocyte monocyte progenitor cell number	increase in the number of a hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages; these cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1
HP:0001931	Hypochromic anemia	MP:0011085	postnatal lethality, complete penetrance	premature death anytime between the neonatal period and weaning age of all organisms of a given genotype in a population (Mus: P1 to approximately 3 weeks of age)
HP:0008282	Unconjugated hyperbilirubinemia	MP:0013504	increased embryonic tissue cell apoptosis	increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death
HP:0012418	Hypoxemia	MP:0012549	hypoxemia	subnormal arterial oxygen tension; deficient oxygenation of arterial blood
HP:0000488	Retinopathy	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0001935	Microcytic anemia	MP:0014185	cerebellum atrophy	acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal
HP:0011981	Pigment gallstones	MP:0011100	preweaning lethality, complete penetrance	death of all organisms of a given genotype in a population between fertilization and weaning age (Mus: approximately 3-4 weeks of age)
HP:0100749	Chest pain	MP:0020154	impaired humoral immune response	impaired response of the immune system that mediates secreted antibodies produced in B cells
HP:0002719	Recurrent infections	MP:0020234	decreased basal metabolism	decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state
HP:0001894	Thrombocytosis	MP:0020039	increased bone ossification	increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance
HP:0001923	Reticulocytosis	MP:0020216	decreased circulating complement protein level	less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes
HP:0005518	Erythrocyte macrocytosis	MP:0020039	increased bone ossification	increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance
HP:0001974	Leukocytosis	MP:0020154	impaired humoral immune response	impaired response of the immune system that mediates secreted antibodies produced in B cells
HP:0004870	Chronic hemolytic anemia	MP:0011178	increased erythroblast number	greater number of the nucleated precursor of erythrocytes

Disease ID	119
Disease	sickle cell anemia
Case	(Waiting for update.)