eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine

HOME
QUERY
- DISEASE
- GENOTYPE
NETWORK
- PHENOTYPE
- GENE
- COMMON
- DISEASE PAIR
DOWNLOAD
SUBMIT CASE
HELP&FAQ
- HELP&FAQ
- CONTACT US


	ankylosing spondylitis

Disease ID	173
Disease	ankylosing spondylitis
Definition	A chronic inflammatory condition affecting the axial joints, such as the SACROILIAC JOINT and other intervertebral or costovertebral joints. It occurs predominantly in young males and is characterized by pain and stiffness of joints (ANKYLOSIS) with inflammation at tendon insertions.
Synonym	ankylosing spondylarthritides ankylosing spondylarthritis ankylosing spondylitis (disorder) ankylosing spondylitis, nos ankylosing spondyloarthritides ankylosing spondyloarthritis arthritis rheumatoid spine as - ankylosing spondylitis bechterew dis bechterew disease bechterew's disease bechterews dis bechterews disease bekhterev's disease idiopathic ankylosing spondylitis marie struempell dis marie struempell disease marie strumpell disease marie strumpell spondylitis marie strÃ¼mpell spondylitis marie-struempell disease marie-struempell spondylitis marie-strumpell disease marie-strumpell spondylitis rheumatioid arthritis of spine nos rheumatoid arthritis of spine rheumatoid arthritis of spine, nos rheumatoid spondylitis spine rheumatoid arthritis spondylarthritides, ankylosing spondylarthritis ankylopoietica spondylarthritis, ankylosing spondylitis ankylopoietica spondylitis ankylosing spondylitis, ankylosing spondylitis, ankylosing [disease/finding] spondylitis, marie-strumpell spondylitis, rheumatoid spondyloarthritides, ankylosing spondyloarthritis ankylopoietica spondyloarthritis, ankylosing von bechterew-struempell syndrome
OMIM	OMIM:106300
DOID	DOID:7147
UMLS	C0038013
MeSH	D013167
SNOMED-CT	SNOMEDCT_US_2016_09_01:9631008
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:104) C0042164 \| uveitis \| 16 C0003864 \| arthritis \| 13 C0042165 \| anterior uveitis \| 9 C0021390 \| inflammatory bowel disease \| 8 C0004153 \| atherosclerosis \| 6 C0003090 \| ankylosis \| 6 C0033860 \| psoriasis \| 6 C0042373 \| vascular disease \| 5 C0022821 \| kyphosis \| 5 C0701807 \| acute anterior uveitis \| 5 C0029456 \| osteoporosis \| 4 C0021831 \| bowel disease \| 4 C0002726 \| amyloidosis \| 3 C0016053 \| fibromyalgia \| 3 C0003873 \| rheumatoid arthritis \| 3 C0003509 \| aortitis \| 3 C0011570 \| depression \| 2 C0042373 \| vascular diseases \| 2 C0949690 \| spondyloarthritis \| 2 C0031069 \| familial mediterranean fever \| 2 C0007222 \| cardiovascular disease \| 2 C0019829 \| hodgkin's lymphoma \| 2 C0948265 \| metabolic syndrome \| 2 C0004943 \| behcet's disease \| 2 C0003708 \| arachnoiditis \| 2 C0026764 \| myeloma \| 2 C1956089 \| osteophyte \| 2 C0032326 \| pneumothorax \| 2 C0041296 \| tuberculosis \| 2 C0392548 \| cauda equina syndrome \| 2 C0008513 \| retinochoroiditis \| 1 C0032453 \| relapsing polychondritis \| 1 C0006271 \| bronchiolitis \| 1 C0027697 \| nephritis \| 1 C0028754 \| obesity \| 1 C0041331 \| splenic tuberculosis \| 1 C0020538 \| hypertension \| 1 C0029408 \| osteoarthritis \| 1 C0032285 \| pneumoniae \| 1 C0003467 \| anxiety \| 1 C0015773 \| felty syndrome \| 1 C0023418 \| leukemia \| 1 C0033953 \| sexual dysfunction \| 1 C0023470 \| myeloid leukemia \| 1 C0037933 \| spinal disease \| 1 C0027726 \| nephrotic syndrome \| 1 C0021390 \| inflammatory bowel diseases \| 1 C0017665 \| membranous glomerulonephritis \| 1 C0024305 \| non-hodgkin's lymphoma \| 1 C0003872 \| psoriatic arthritis \| 1 C0040558 \| toxoplasmosis \| 1 C0022408 \| arthrosis \| 1 C0009782 \| connective tissue diseases \| 1 C0010418 \| cryptosporidiosis \| 1 C0002871 \| anemia \| 1 C0001173 \| gastric outlet obstruction \| 1 C0010068 \| coronary artery disease \| 1 C0034152 \| henoch-schonlein purpura \| 1 C0038018 \| spondylolysis \| 1 C0027707 \| interstitial nephritis \| 1 C0039263 \| takayasu disease \| 1 C0031090 \| periodontal disease \| 1 C0023283 \| cutaneous leishmaniasis \| 1 C0020492 \| hyperostosis \| 1 C0039106 \| villonodular synovitis \| 1 C0039106 \| pigmented villonodular synovitis \| 1 C0043202 \| wpw syndrome \| 1 C0003864 \| inflammatory arthritis \| 1 C0002766 \| analgesia \| 1 C0004096 \| asthma \| 1 C0023467 \| acute myeloid leukemia \| 1 C0018799 \| cardiac disease \| 1 C0029443 \| osteomyelitis \| 1 C0042341 \| varicocele \| 1 C0024299 \| lymphoma \| 1 C0271051 \| macular oedema \| 1 C0011991 \| diarrhea \| 1 C0028756 \| morbid obesity \| 1 C0023281 \| leishmaniasis \| 1 C0022408 \| joint disease \| 1 C0039263 \| takayasu's arteritis \| 1 C0009782 \| connective tissue disease \| 1 C0030326 \| panniculitis \| 1 C1619734 \| pulmonary arterial hypertension \| 1 C0242490 \| enthesopathy \| 1 C0037317 \| sleep disturbance \| 1 C0878544 \| cardiomyopathy \| 1 C0040128 \| thyroid disease \| 1 C0158266 \| intervertebral disc degeneration \| 1 C0026769 \| multiple sclerosis \| 1 C0019163 \| hepatitis b \| 1 C0151436 \| leukocytoclastic vasculitis \| 1 C0158266 \| disc degeneration \| 1 C0014859 \| esophageal cancer \| 1 C0039103 \| synovitis \| 1 C0011603 \| dermatitis \| 1 C0033038 \| premature ejaculation \| 1 C0017658 \| glomerulonephritis \| 1 C0037315 \| sleep apnea \| 1 C0458219 \| complex regional pain syndrome \| 1 C0026764 \| multiple myeloma \| 1 C0034150 \| purpura \| 1 C0042384 \| vasculitis \| 1 C0003175 \| anthrax \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:15) 3106 \| HLA-B \| CLINVAR;CTD_human;GHR 3552 \| IL1A \| GHR 196527 \| ANO6 \| CTD_human;GWASCAT 149233 \| IL23R \| CTD_human;GWASCAT;GHR 3593 \| IL12B \| CTD_human 3105 \| HLA-A \| CTD_human 864 \| RUNX3 \| CTD_human 100507436 \| MICA \| GWASCAT 51752 \| ERAP1 \| CTD_human;GWASCAT;GHR 7850 \| IL1R2 \| CTD_human 64170 \| CARD9 \| CTD_human;GWASCAT 118429 \| ANTXR2 \| CTD_human;GWASCAT 5734 \| PTGER4 \| CTD_human 23046 \| KIF21B \| GWASCAT 9755 \| TBKBP1 \| CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:85) 23 \| ABCF1 \| CIPHER 249 \| ALPL \| CIPHER 56172 \| ANKH \| CIPHER 118429 \| ANTXR2 \| CIPHER;CTD_human 929 \| CD14 \| CIPHER 1493 \| CTLA4 \| CIPHER 1543 \| CYP1A1 \| CIPHER 51752 \| ERAP1 \| CIPHER;CTD_human 64167 \| ERAP2 \| CIPHER 2794 \| GNL1 \| CIPHER 3106 \| HLA-B \| CIPHER;CTD_human 3107 \| HLA-C \| CIPHER 3117 \| HLA-DQA1 \| CIPHER 3119 \| HLA-DQB1 \| CIPHER 3123 \| HLA-DRB1 \| CIPHER 3133 \| HLA-E \| CIPHER 3303 \| HSPA1A \| CIPHER 3586 \| IL10 \| CIPHER 3552 \| IL1A \| CIPHER 3553 \| IL1B \| CIPHER 84639 \| IL1F10 \| CIPHER 3554 \| IL1R1 \| CIPHER 7850 \| IL1R2 \| CIPHER;CTD_human 3557 \| IL1RN \| CIPHER 149233 \| IL23R \| CIPHER;CTD_human 3565 \| IL4 \| CIPHER 3569 \| IL6 \| CIPHER 3811 \| KIR3DL1 \| CIPHER 3813 \| KIR3DS1 \| CIPHER 100507436 \| MICA \| CIPHER 4314 \| MMP3 \| CIPHER 4790 \| NFKB1 \| CIPHER 4792 \| NFKBIA \| CIPHER 5133 \| PDCD1 \| CIPHER 80742 \| PRR3 \| CIPHER 5696 \| PSMB8 \| CIPHER 5698 \| PSMB9 \| CIPHER 6648 \| SOD2 \| CIPHER 6890 \| TAP1 \| CIPHER 6891 \| TAP2 \| CIPHER 7040 \| TGFB1 \| CIPHER 7099 \| TLR4 \| CIPHER 7124 \| TNF \| CIPHER 8717 \| TRADD \| CIPHER 7422 \| VEGFA \| CIPHER 196527 \| ANO6 \| CIPHER;CTD_human 10678 \| B3GNT2 \| CIPHER 64170 \| CARD9 \| CIPHER;CTD_human 1439 \| CSF2RB \| CIPHER 1565 \| CYP2D6 \| CIPHER 1601 \| DAB2 \| CIPHER 729816 \| DHFRP2 \| CIPHER 83416 \| FCRL5 \| CIPHER 3115 \| HLA-DPB1 \| CIPHER 267015 \| HLA-S \| CIPHER 3306 \| HSPA2 \| CIPHER 3593 \| IL12B \| CIPHER;CTD_human 23046 \| KIF21B \| CIPHER 3802 \| KIR2DL1 \| CIPHER 3803 \| KIR2DL2 \| CIPHER 3804 \| KIR2DL3 \| CIPHER 3805 \| KIR2DL4 \| CIPHER 57292 \| KIR2DL5A \| CIPHER 100132285 \| KIR2DS2 \| CIPHER 3808 \| KIR2DS3 \| CIPHER 3809 \| KIR2DS4 \| CIPHER 3810 \| KIR2DS5 \| CIPHER 3812 \| KIR3DL2 \| CIPHER 115653 \| KIR3DL3 \| CIPHER 3837 \| KPNB1 \| CIPHER 4055 \| LTBR \| CIPHER 4210 \| MEFV \| CIPHER 4488 \| MSX2 \| CIPHER 326603 \| MTCO1P2 \| CIPHER 100271278 \| RPL13AP14 \| CIPHER 864 \| RUNX3 \| CIPHER;CTD_human 7076 \| TIMP1 \| CIPHER 7097 \| TLR2 \| CIPHER 7132 \| TNFRSF1A \| CIPHER 7133 \| TNFRSF1B \| CIPHER 10477 \| UBE2E3 \| CIPHER 7433 \| VIPR1 \| CIPHER 5734 \| PTGER4 \| CTD_human 3105 \| HLA-A \| CTD_human 9755 \| TBKBP1 \| CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:155) 2 \| A2M \| 1.154 \| DISEASES 7920 \| ABHD16A \| 1.065 \| DISEASES 176 \| ACAN \| 3.024 \| DISEASES 340351 \| AGBL3 \| 1.579 \| DISEASES 249 \| ALPL \| 1.79 \| DISEASES 196527 \| ANO6 \| 1.467 \| DISEASES 567 \| B2M \| 3.032 \| DISEASES 8703 \| B4GALT3 \| 1.721 \| DISEASES 632 \| BGLAP \| 3.407 \| DISEASES 650 \| BMP2 \| 2.91 \| DISEASES 655 \| BMP7 \| 2.433 \| DISEASES 353500 \| BMP8A \| 1.591 \| DISEASES 676 \| BRDT \| 1.696 \| DISEASES 54014 \| BRWD1 \| 2.122 \| DISEASES 151888 \| BTLA \| 1.664 \| DISEASES 339804 \| C2orf74 \| 2.275 \| DISEASES 80739 \| C6orf25 \| 2.366 \| DISEASES 23066 \| CAND2 \| 1.213 \| DISEASES 22900 \| CARD8 \| 1.279 \| DISEASES 64170 \| CARD9 \| 2.381 \| DISEASES 9332 \| CD163 \| 1.573 \| DISEASES 930 \| CD19 \| 1.054 \| DISEASES 959 \| CD40LG \| 3.856 \| DISEASES 9578 \| CDC42BPB \| 1.645 \| DISEASES 1041 \| CDSN \| 1.597 \| DISEASES 3080 \| CFHR2 \| 1.306 \| DISEASES 1260 \| CNGA2 \| 1.374 \| DISEASES 1280 \| COL2A1 \| 1.416 \| DISEASES 8804 \| CREG1 \| 3.757 \| DISEASES 54677 \| CROT \| 1.117 \| DISEASES 4283 \| CXCL9 \| 1.013 \| DISEASES 1565 \| CYP2D6 \| 1.427 \| DISEASES 55601 \| DDX60 \| 1.589 \| DISEASES 9249 \| DHRS3 \| 1.148 \| DISEASES 22943 \| DKK1 \| 4.025 \| DISEASES 1806 \| DPYD \| 1.199 \| DISEASES 6993 \| DYNLT1 \| 2.751 \| DISEASES 23741 \| EID1 \| 1.466 \| DISEASES 64167 \| ERAP2 \| 4.211 \| DISEASES 2204 \| FCAR \| 1.247 \| DISEASES 2214 \| FCGR3A \| 1.832 \| DISEASES 9873 \| FCHSD2 \| 2.524 \| DISEASES 115352 \| FCRL3 \| 1.156 \| DISEASES 83416 \| FCRL5 \| 1.014 \| DISEASES 50943 \| FOXP3 \| 1.579 \| DISEASES 2782 \| GNB1 \| 1.134 \| DISEASES 2794 \| GNL1 \| 1.56 \| DISEASES 10866 \| HCP5 \| 1.189 \| DISEASES 8342 \| HIST1H2BM \| 2.239 \| DISEASES 3105 \| HLA-A \| 3.537 \| DISEASES 3106 \| HLA-B \| 5.102 \| DISEASES 3107 \| HLA-C \| 3.186 \| DISEASES 3113 \| HLA-DPA1 \| 1.457 \| DISEASES 3115 \| HLA-DPB1 \| 2.483 \| DISEASES 3117 \| HLA-DQA1 \| 1.644 \| DISEASES 3123 \| HLA-DRB1 \| 2.208 \| DISEASES 3133 \| HLA-E \| 1.404 \| DISEASES 3240 \| HP \| 1.956 \| DISEASES 3305 \| HSPA1L \| 2.388 \| DISEASES 3309 \| HSPA5 \| 1.296 \| DISEASES 3329 \| HSPD1 \| 2.275 \| DISEASES 3586 \| IL10 \| 2.916 \| DISEASES 3605 \| IL17A \| 4.598 \| DISEASES 112744 \| IL17F \| 1.155 \| DISEASES 23765 \| IL17RA \| 2.506 \| DISEASES 84639 \| IL1F10 \| 3.28 \| DISEASES 7850 \| IL1R2 \| 3.053 \| DISEASES 50616 \| IL22 \| 1.359 \| DISEASES 149233 \| IL23R \| 4.512 \| DISEASES 90865 \| IL33 \| 1.57 \| DISEASES 345611 \| IRGM \| 1.136 \| DISEASES 9452 \| ITM2A \| 1.472 \| DISEASES 3712 \| IVD \| 1.273 \| DISEASES 133746 \| JMY \| 2.501 \| DISEASES 163782 \| KANK4 \| 1.887 \| DISEASES 5927 \| KDM5A \| 1.461 \| DISEASES 23046 \| KIF21B \| 3.459 \| DISEASES 55083 \| KIF26B \| 1.436 \| DISEASES 3802 \| KIR2DL1 \| 1.503 \| DISEASES 3803 \| KIR2DL2 \| 3.593 \| DISEASES 3804 \| KIR2DL3 \| 2.208 \| DISEASES 3805 \| KIR2DL4 \| 2.325 \| DISEASES 3811 \| KIR3DL1 \| 4.227 \| DISEASES 3812 \| KIR3DL2 \| 3.343 \| DISEASES 3821 \| KLRC1 \| 1.227 \| DISEASES 3841 \| KPNA5 \| 1.29 \| DISEASES 83999 \| KREMEN1 \| 1.171 \| DISEASES 132660 \| LIN54 \| 1.346 \| DISEASES 4049 \| LTA \| 1.725 \| DISEASES 80740 \| LY6G6C \| 1.727 \| DISEASES 58530 \| LY6G6D \| 1.444 \| DISEASES 4094 \| MAF \| 2.127 \| DISEASES 9223 \| MAGI1 \| 1.669 \| DISEASES 4140 \| MARK3 \| 1.61 \| DISEASES 79104 \| MEG8 \| 2.749 \| DISEASES 100507436 \| MICA \| 2.895 \| DISEASES 29093 \| MRPL22 \| 3.038 \| DISEASES 283463 \| MUC19 \| 2.126 \| DISEASES 9436 \| NCR2 \| 1.57 \| DISEASES 4700 \| NDUFA6 \| 2.358 \| DISEASES 4779 \| NFE2L1 \| 1.043 \| DISEASES 159296 \| NKX2-3 \| 1.627 \| DISEASES 114548 \| NLRP3 \| 1.079 \| DISEASES 29943 \| PADI1 \| 1.319 \| DISEASES 23569 \| PADI4 \| 2.026 \| DISEASES 5133 \| PDCD1 \| 2.224 \| DISEASES 11331 \| PHB2 \| 5.221 \| DISEASES 79837 \| PIP4K2C \| 1.272 \| DISEASES 5478 \| PPIA \| 1.919 \| DISEASES 5627 \| PROS1 \| 2.604 \| DISEASES 5696 \| PSMB8 \| 1.987 \| DISEASES 5698 \| PSMB9 \| 3.299 \| DISEASES 8624 \| PSMG1 \| 1.338 \| DISEASES 100130889 \| PSORS1C3 \| 1.999 \| DISEASES 5743 \| PTGS2 \| 2.237 \| DISEASES 26191 \| PTPN22 \| 2.248 \| DISEASES 152138 \| PYDC2 \| 2.949 \| DISEASES 80135 \| RPF1 \| 2.545 \| DISEASES 6139 \| RPL17 \| 2.066 \| DISEASES 6164 \| RPL34 \| 1.273 \| DISEASES 860 \| RUNX2 \| 2.154 \| DISEASES 864 \| RUNX3 \| 1.894 \| DISEASES 6288 \| SAA1 \| 2.115 \| DISEASES 29115 \| SAP30BP \| 1.379 \| DISEASES 9919 \| SEC16A \| 1.53 \| DISEASES 5265 \| SERPINA1 \| 2.12 \| DISEASES 653509 \| SFTPA1 \| 3.269 \| DISEASES 729238 \| SFTPA2 \| 3.063 \| DISEASES 6520 \| SLC3A2 \| 1.05 \| DISEASES 10580 \| SORBS1 \| 1.512 \| DISEASES 9806 \| SPOCK2 \| 1.224 \| DISEASES 6775 \| STAT4 \| 1.784 \| DISEASES 84447 \| SYVN1 \| 1.625 \| DISEASES 6892 \| TAPBP \| 3.294 \| DISEASES 9755 \| TBKBP1 \| 3.813 \| DISEASES 6916 \| TBXAS1 \| 1.712 \| DISEASES 7099 \| TLR4 \| 2.331 \| DISEASES 7100 \| TLR5 \| 1.205 \| DISEASES 7124 \| TNF \| 6.4 \| DISEASES 126282 \| TNFAIP8L1 \| 1.459 \| DISEASES 8792 \| TNFRSF11A \| 1.172 \| DISEASES 7133 \| TNFRSF1B \| 6.695 \| DISEASES 8718 \| TNFRSF25 \| 1.399 \| DISEASES 9966 \| TNFSF15 \| 2.125 \| DISEASES 8717 \| TRADD \| 1.529 \| DISEASES 55020 \| TTC38 \| 2.711 \| DISEASES 81567 \| TXNDC5 \| 2.145 \| DISEASES 7321 \| UBE2D1 \| 1.187 \| DISEASES 373509 \| USP50 \| 2.946 \| DISEASES 7422 \| VEGFA \| 1.502 \| DISEASES 7433 \| VIPR1 \| 1.393 \| DISEASES 7710 \| ZNF154 \| 1.552 \| DISEASES 6940 \| ZNF354A \| 1.429 \| DISEASES 283337 \| ZNF740 \| 1.243 \| DISEASES 124626 \| ZPBP2 \| 1.091 \| DISEASES
Locus	(Waiting for update.)

Disease ID	173
Disease	ankylosing spondylitis
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:82) HP:0000554 \| Uveitis \| 19 HP:0001369 \| Arthritis \| 14 HP:0012531 \| Pain \| 11 HP:0012122 \| Anterior uveitis \| 11 HP:0012378 \| Fatigue \| 10 HP:0100686 \| Enthesitis \| 7 HP:0003418 \| Back pain \| 7 HP:0002621 \| Atherosclerosis \| 6 HP:0003765 \| Psoriasis \| 6 HP:0002808 \| Gibbus deformity \| 5 HP:0002664 \| Neoplasia \| 4 HP:0002948 \| Fusion of vertebral bodies \| 4 HP:0000716 \| Depression \| 4 HP:0000939 \| Osteoporosis \| 4 HP:0005619 \| Thoracolumbar kyphosis \| 3 HP:0008454 \| Rounded lower back \| 3 HP:0011034 \| Amyloid disease \| 3 HP:0001370 \| Rheumatoid arthritis \| 3 HP:0002108 \| Spontaneous pneumothorax \| 2 HP:0001297 \| Cerebral vascular events \| 2 HP:0002107 \| Collapsed lung \| 2 HP:0012478 \| Temporomandibular joint ankylosis \| 2 HP:0003419 \| Low back pain \| 2 HP:0003414 \| Atlantoaxial subluxation \| 2 HP:0012189 \| Hodgkin disease \| 2 HP:0000739 \| Anxiety \| 2 HP:0002104 \| Absence of spontaneous respiration \| 1 HP:0004943 \| Accelerated atherosclerosis \| 1 HP:0003304 \| Spondylolysis \| 1 HP:0002758 \| Osteoarthritis \| 1 HP:0002615 \| Low blood pressure \| 1 HP:0000820 \| Thyroid abnormality \| 1 HP:0012876 \| Premature ejaculation \| 1 HP:0100774 \| Hyperostosis \| 1 HP:0002014 \| Diarrhea \| 1 HP:0001945 \| Fever \| 1 HP:0004808 \| Acute myelogenous leukemia \| 1 HP:0001677 \| Coronary artery disease \| 1 HP:0000100 \| Nephrosis \| 1 HP:0001970 \| Interstitial nephritis \| 1 HP:0004936 \| Blood clot in vein \| 1 HP:0002360 \| Sleep disturbance \| 1 HP:0003307 \| Hyperlordosis \| 1 HP:0001513 \| Obesity \| 1 HP:0002665 \| Lymphoma \| 1 HP:0001638 \| Cardiomyopathy \| 1 HP:0002953 \| Vertebral compression fractures \| 1 HP:0011950 \| Bronchiolitis \| 1 HP:0008419 \| Degeneration of intervertebral disks \| 1 HP:0002938 \| Exaggerated lumbar lordosis \| 1 HP:0000822 \| Hypertension \| 1 HP:0000979 \| Purpura \| 1 HP:0000969 \| Dropsy \| 1 HP:0012871 \| Varicocele \| 1 HP:0012722 \| Heart block \| 1 HP:0001045 \| Blotchy loss of skin color \| 1 HP:0010535 \| Sleep apnea \| 1 HP:0007626 \| Osteomyelitis, especially of the mandible \| 1 HP:0001288 \| Gait disturbance \| 1 HP:0002910 \| Elevated transaminases \| 1 HP:0012578 \| Membranous glomerulonephritis \| 1 HP:0002527 \| Falls \| 1 HP:0001901 \| Abnormally shaped erythrocytes \| 1 HP:0100769 \| Synovitis \| 1 HP:0002754 \| Bone infection \| 1 HP:0012490 \| Inflammation of fat tissue \| 1 HP:0100310 \| Extradural hematoma \| 1 HP:0002028 \| Chronic diarrhea \| 1 HP:0001873 \| Low platelet count \| 1 HP:0001695 \| Cardiac arrest \| 1 HP:0001903 \| Anemia \| 1 HP:0000123 \| Nephritis \| 1 HP:0000099 \| Glomerular nephritis \| 1 HP:0001909 \| Leukemia \| 1 HP:0012324 \| Myeloid leukemia \| 1 HP:0011874 \| Heparin-induced thrombocytopenia \| 1 HP:0002099 \| Asthma \| 1 HP:0002633 \| Vasculitis \| 1 HP:0006775 \| Multiple myeloma \| 1 HP:0001709 \| Complete heart block \| 1 HP:0012190 \| T cell lymphoma \| 1 HP:0002625 \| Blood clot in a deep vein \| 1

Disease ID	173
Disease	ankylosing spondylitis
Manually Symptom	UMLS \| Name(Total Manually Symptoms:203) C2712605 \| klebsiella pneumoniae C2707258 \| infections C2697391 \| rheumatoid arthritis C2678504 \| osteoporosis C2609059 \| antisynthetase syndrome C2598155 \| pain C2364133 \| infection C2364072 \| depression C2364051 \| fatigue C2239136 \| laryngocele C2215935 \| complete heart block C2073625 \| pleural effusion C2029884 \| hearing loss C1963274 \| vasculitis C1963266 \| uveitis C1963211 \| pericarditis C1963158 \| left ventricular diastolic dysfunction C1963091 \| diarrhea C1962972 \| proteinuria C1962958 \| hematoma C1555769 \| pulmonary disease C1393529 \| vascular complications C1378703 \| renal carcinoma C1368019 \| paget's disease C1282952 \| enthesitis C1263855 \| lumbar radiculopathy C1261473 \| sarcoma C1253937 \| pericardial effusion C1112578 \| granulomatous ileitis C0949691 \| spondyloarthropathy C0949691 \| spondylarthropathy C0948265 \| metabolic syndrome C0947961 \| atopic disorders C0919715 \| lupus-like syndrome C0878544 \| cardiomyopathy C0877172 \| spinal epidural haematoma C0877061 \| epiduritis C0866648 \| romanus lesion C0861152 \| bilateral optic neuritis C0857305 \| thrombocytopenic purpura C0856169 \| endothelial dysfunction C0752303 \| urological manifestation C0748159 \| pulmonary involvement C0729552 \| genital infection C0701807 \| acute anterior uveitis C0700201 \| sleep disturbance C0700109 \| rigidity C0699885 \| bladder carcinoma C0598608 \| hyperhomocysteinemia C0585265 \| hypoglossal nerve palsy C0581321 \| vertebral osteoporosis C0574960 \| sacroiliitis C0558385 \| neck disease C0521607 \| peritoneal fibrosis C0520679 \| obstructive sleep apnoea syndrome C0427008 \| stiffness C0409475 \| hip joint ankylosis C0409207 \| hip arthritis C0392548 \| cauda equina syndrome C0392525 \| nephrolithiasis C0376293 \| stigmata C0374994 \| clostridium perfringens C0343475 \| cutaneous mycobacterium marinum infection C0340375 \| subaortic stenosis C0334660 \| angiotropic lymphoma C0334054 \| cystic disease C0332790 \| bony ankylosis C0278146 \| lightning pains C0276651 \| aspergilloma C0271441 \| chronic otitis media C0268382 \| renal amyloidosis C0268382 \| amyloid nephropathy C0268381 \| al amyloidosis C0265673 \| kyphosis C0264886 \| conduction disorders C0264886 \| conduction defect C0264383 \| organizing pneumonia C0263776 \| coxitis C0263591 \| drug-induced systemic lupus erythematosus C0263217 \| pustular bacterid C0262988 \| cutaneous vasculitis C0242490 \| enthesopathy C0242490 \| enthesopathies C0240035 \| fibrosing interstitial pneumonitis C0238074 \| cor pulmonale C0233397 \| psychological symptoms C0231451 \| hyperextension C0221568 \| inflammatory monoarthritis C0221014 \| secondary amyloidosis C0221014 \| reactive systemic amyloidosis C0221014 \| aa amyloidosis C0152026 \| retinal vasculitis C0151311 \| cranial nerve palsy C0149781 \| spontaneous pneumothorax C0149678 \| epstein-barr virus infection C0085278 \| antiphospholipid syndrome C0078981 \| arachnoid cysts C0078981 \| arachnoid cyst C0051981 \| leprosy C0042594 \| vestibular disorders C0042341 \| varicoceles C0042341 \| varicocele C0042165 \| anterior uveitis C0041327 \| pulmonary tuberculosis C0039494 \| temporomandibular disorders C0039483 \| polymyalgia rheumatica C0039319 \| tarsal tunnel syndrome C0039103 \| synovitis C0037944 \| spinal stenosis C0037928 \| myelopathy C0037926 \| spinal cord compression C0037090 \| pulmonary symptoms C0037023 \| sialadenitis C0036205 \| pulmonary sarcoidosis C0035204 \| respiratory disorder C0034069 \| pulmonary fibrosis C0034069 \| lung fibrosis C0031090 \| periodontal disease C0030920 \| peptic ulcer disease C0030486 \| paraplegia C0029410 \| hip arthrosis C0029400 \| osteitis C0029134 \| optic neuritis C0027947 \| neutropenia C0027858 \| neuroma C0027697 \| nephritis C0027547 \| necrotizing scleritis C0027121 \| myositis C0027121 \| inflammatory muscle disease C0027051 \| myocardial infarction (mi) C0026948 \| mycosis fungoides C0026848 \| muscular disease C0026846 \| muscle atrophy C0026764 \| myeloma C0026266 \| mitral regurgitation C0026266 \| mitral insufficiency C0024796 \| marfan's syndrome C0024299 \| malignant lymphoma C0024236 \| lymphoedema C0024115 \| pulmonary disorders C0024115 \| lung disease C0023488 \| radiation-induced leukemias C0023473 \| chronic granulocytic leukemia C0023470 \| myeloid leukaemia C0023418 \| leukaemia C0023283 \| cutaneous leishmaniasis C0023223 \| leg ulcers C0022658 \| renal diseases C0022658 \| nephropathy C0022408 \| joint disease C0022408 \| arthropathy C0022081 \| iritis C0022073 \| iridocyclitis C0021390 \| inflammatory bowel diseases C0021390 \| inflammatory bowel disease C0021053 \| immunologic disorders C0020455 \| hyperimmunoglobulinemia C0020455 \| hypergammaglobulinemia C0019080 \| hemorrhage C0018799 \| cardiac disease C0018794 \| heart block C0018784 \| sensorineural hearing loss C0018378 \| guillain-barre C0018021 \| goiter C0017665 \| membranous nephropathy C0017665 \| membranous glomerulonephritis C0017661 \| iga nephropathy C0017661 \| iga glomerulonephritis C0017658 \| glomerulonephritis C0015624 \| fanconi syndrome C0014866 \| stricture of oesophagus C0014860 \| esophageal perforation C0014122 \| subacute bacterial endocarditis C0012624 \| spondylodiskitis C0012624 \| spondylodiscitis C0012624 \| discitis C0010606 \| adenoid cystic carcinoma C0010346 \| crohn's disease C0010051 \| coronary artery aneurysms C0010051 \| coronary aneurysm C0009324 \| ulcerative colitis C0008372 \| intrahepatic cholestasis C0008312 \| primary biliary cirrhosis C0008031 \| chest pain C0007222 \| cardiovascular diseases C0007193 \| dilated cardiomyopathy C0006309 \| brucellosis C0005697 \| neuropathic bladder C0004604 \| backache C0004153 \| atherosclerosis C0003872 \| psoriatic arthritis C0003864 \| joint inflammation C0003864 \| arthritis C0003509 \| aortitis C0003504 \| aortic valve insufficiency C0003504 \| aortic regurgitation C0003504 \| aortic insufficiency C0003504 \| aortic incompetence C0003496 \| aortic rupture C0003090 \| joint ankylosis C0003090 \| ankylosis C0002726 \| amyloidosis C0000737 \| abdominal pain
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:52) C0042164 \| uveitis \| 19 C0003864 \| arthritis \| 14 C0042165 \| anterior uveitis \| 11 C0030193 \| pain \| 11 C0015672 \| fatigue \| 10 C0021390 \| inflammatory bowel disease \| 8 C1282952 \| enthesitis \| 7 C0574960 \| sacroiliitis \| 7 C0004153 \| atherosclerosis \| 6 C0701807 \| acute anterior uveitis \| 6 C0003090 \| ankylosis \| 5 C0022821 \| kyphosis \| 5 C0029456 \| osteoporosis \| 4 C0011570 \| depression \| 4 C0002726 \| amyloidosis \| 3 C0003509 \| aortitis \| 3 C0003873 \| rheumatoid arthritis \| 3 C0856169 \| endothelial dysfunction \| 3 C0021311 \| infections \| 3 C0009450 \| infection \| 2 C0948265 \| metabolic syndrome \| 2 C0026764 \| myeloma \| 2 C0427008 \| stiffness \| 2 C0149781 \| spontaneous pneumothorax \| 2 C0392548 \| cauda equina syndrome \| 2 C0003090 \| joint ankylosis \| 2 C0748159 \| pulmonary involvement \| 2 C0022408 \| joint disease \| 1 C0018799 \| cardiac disease \| 1 C0409207 \| hip arthritis \| 1 C0878544 \| cardiomyopathy \| 1 C0003872 \| psoriatic arthritis \| 1 C0039103 \| synovitis \| 1 C0037317 \| sleep disturbance \| 1 C0018794 \| heart block \| 1 C0017658 \| glomerulonephritis \| 1 C0018944 \| hematoma \| 1 C0029410 \| hip arthrosis \| 1 C0011991 \| diarrhea \| 1 C0023283 \| cutaneous leishmaniasis \| 1 C0332790 \| bony ankylosis \| 1 C1393529 \| vascular complications \| 1 C0031090 \| periodontal disease \| 1 C0017665 \| membranous glomerulonephritis \| 1 C0042341 \| varicocele \| 1 C0027697 \| nephritis \| 1 C0042384 \| vasculitis \| 1 C0221014 \| secondary amyloidosis \| 1 C0019080 \| hemorrhage \| 1 C0151517 \| complete heart block \| 1 C0242490 \| enthesopathy \| 1 C0263776 \| coxitis \| 1

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

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

All Snps(Total Genotypes:102)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs10050860	22896742	907	CCT	umls:C0038013	BeFree	The rs17482078/rs10050860/rs30187-CCT haplotype was significantly associated with increased risk of SpA in both cohorts (P(combined)= 9.08×10(-4)), including AS and non-AS (P(combined)=6.16×10(-4) and P(combined)=0.049, respectively), whereas the -TTC haplotype was associated with reduced risk of SpA, including AS and non-AS (P(combined)=2.36×10(-7), P(combined)= 5.69×10(-6) and P(combined)= 2.13×10(-4), respectively).	0.000542884	2013	ERAP1	5	96786506	C	T
rs1009759	21269571	80380	PDCD1LG2	umls:C0038013	BeFree	However, we did not find any evidence of genetic association between PD-L2 rs1009759/rs6476985 polymorphisms and AS (p=0.371 and 0.061, respectively).	0.000271442	2011	PDCD1LG2	9	5556786	A	G
rs1018326	20062062	10477	UBE2E3	umls:C0038013	GAD	[Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci.]	0.002367032	2010	LOC101927156	2	181143073	T	C
rs10440635	21743469	1601	DAB2	umls:C0038013	GAD	[Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility.]	0.002367032	2011	NA	5	40490688	G	A
rs10781500	21743469	64170	CARD9	umls:C0038013	GAD	[Here we report the identification of three variants in the RUNX3, LTBR-TNFRSF1A and IL12B regions convincingly associated with ankylosing spondylitis (P < 5 A 10(-8) in the combined discovery and replication datasets) and a further four loci at PTGER4, TBKBP1, ANTXR2 and CARD9 that show strong association across all our datasets (P < 5 A 10(-6) overall, with support in each of the three datasets studied).]	0.243181358	2011	CARD9	9	136374886	C	T
rs10781500	21743469	64170	CARD9	umls:C0038013	GWASCAT	Here we report the identification of three variants in the RUNX3, LTBR-TNFRSF1A and IL12B regions convincingly associated with ankylosing spondylitis (P < 5 × 10(-8) in the combined discovery and replication datasets) and a further four loci at PTGER4, TBKBP1, ANTXR2 and CARD9 that show strong association across all our datasets (P < 5 × 10(-6) overall, with support in each of the three datasets studied).	0.243181358	2011	CARD9	9	136374886	C	T
rs10865331	21743469	10678	B3GNT2	umls:C0038013	GAD	[Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility.]	0.004734064	2011	NA	2	62324337	A	G
rs10865331	20062062	10678	B3GNT2	umls:C0038013	GAD	[Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci.]	0.004734064	2010	NA	2	62324337	A	G
rs11209026	18199597	149233	IL23R	umls:C0038013	BeFree	The IL23R Arg381Gln non-synonymous polymorphism confers susceptibility to ankylosing spondylitis.	0.281172083	2008	IL23R	1	67240275	G	A
rs11209026	21743469	149233	IL23R	umls:C0038013	GWASCAT	Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility.	0.281172083	2011	IL23R	1	67240275	G	A
rs11209026	21743469	149233	IL23R	umls:C0038013	GAD	[Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility.]	0.281172083	2011	IL23R	1	67240275	G	A
rs11209026	20062062	149233	IL23R	umls:C0038013	GWASCAT	Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci.	0.281172083	2010	IL23R	1	67240275	G	A
rs11209026	23818276	149233	IL23R	umls:C0038013	BeFree	The nonsynonymous single-nucleotide polymorphism (SNP) rs11209026 (Arg381Gln) in the IL23R gene has reproducibly been shown to be associated with ankylosing spondylitis (AS).	0.281172083	2013	IL23R	1	67240275	G	A
rs11209026	21364948	149233	IL23R	umls:C0038013	BeFree	Genome-wide association studies have shown that the IL23R R381Q gene variant protects against psoriasis, Crohn's disease and ankylosing spondylitis.	0.281172083	2011	IL23R	1	67240275	G	A
rs11249215	21743469	864	RUNX3	umls:C0038013	GAD	[Here we report the identification of three variants in the RUNX3, LTBR-TNFRSF1A and IL12B regions convincingly associated with ankylosing spondylitis (P < 5 A 10(-8) in the combined discovery and replication datasets) and a further four loci at PTGER4, TBKBP1, ANTXR2 and CARD9 that show strong association across all our datasets (P < 5 A 10(-6) overall, with support in each of the three datasets studied).]	0.123452799	2011	NA	1	24970693	G	A
rs1128334	24708692	79969	ATAT1	umls:C0038013	BeFree	Carriers of the haplotype TAT for rs12574073, rs1128334 and rs4937333 were associated with increased risk of AS and haplotype CGC with reduced risk as compared to controls.	0.000271442	2014	ETS1;LOC105369566	11	128459064	C	T
rs1143634	22285486	3553	IL1B	umls:C0038013	BeFree	Polymorphisms of IL1α rs1800587, IL1β rs16944 and IL1β rs1143634 were not significantly associated with ankylosing spondylitis but inversely in this study IL1R rs2234650 was significantly associated and carriage of T allele in IL1R rs2234650 seems to be protective, while carriage of C allele result in two fold higher risk of developing AS.	0.021541054	2011	IL1B	2	112832813	G	A
rs1143634	22285486	3552	IL1A	umls:C0038013	BeFree	Polymorphisms of IL1α rs1800587, IL1β rs16944 and IL1β rs1143634 were not significantly associated with ankylosing spondylitis but inversely in this study IL1R rs2234650 was significantly associated and carriage of T allele in IL1R rs2234650 seems to be protective, while carriage of C allele result in two fold higher risk of developing AS.	0.015168407	2011	IL1B	2	112832813	G	A
rs1143634	22285486	3557	IL1RN	umls:C0038013	BeFree	This study's purpose is to investigate the association of ankylosing spondylitis with single-nucleotide polymorphisms (SNPs) in the IL-1 family: IL-1a (-889C/T) rs1800587, IL-1b (-511C/T) rs16944, IL-1b (+3962C/T) rs1143634, IL-1R (Pst-1 1970C/T) rs2234650 and IL-1RA (Mspa-1 11100C/T) rs315952.	0.023474823	2011	IL1B	2	112832813	G	A
rs11616188	21743469	4055	LTBR	umls:C0038013	GAD	[Here we report the identification of three variants in the RUNX3, LTBR-TNFRSF1A and IL12B regions convincingly associated with ankylosing spondylitis (P < 5 A 10(-8) in the combined discovery and replication datasets) and a further four loci at PTGER4, TBKBP1, ANTXR2 and CARD9 that show strong association across all our datasets (P < 5 A 10(-6) overall, with support in each of the three datasets studied).]	0.002638474	2011	LOC105369628	12	6393576	G	A
rs12574073	24708692	79969	ATAT1	umls:C0038013	BeFree	Carriers of the haplotype TAT for rs12574073, rs1128334 and rs4937333 were associated with increased risk of AS and haplotype CGC with reduced risk as compared to controls.	0.000271442	2014	LOC105369566	11	128449583	C	T
rs1326986	20062062	340895	MALRD1	umls:C0038013	GAD	[Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci.]	0.002367032	2010	MALRD1	10	19640584	T	C
rs1395621	23637848	864	RUNX3	umls:C0038013	BeFree	The rs7379457 SNP in PPARGC1B, the rs1395621 and rs9438876 SNPs in RUNX3, and the rs8070463 SNP in TBKBP1 are related to the severity of AS in Chinese Han population.	0.123452799	2013	RUNX3;LOC105376878	1	24944081	T	C
rs1395621	23637848	133522	PPARGC1B	umls:C0038013	BeFree	The rs7379457 SNP in PPARGC1B, the rs1395621 and rs9438876 SNPs in RUNX3, and the rs8070463 SNP in TBKBP1 are related to the severity of AS in Chinese Han population.	0.000542884	2013	RUNX3;LOC105376878	1	24944081	T	C
rs16944	22285486	3557	IL1RN	umls:C0038013	BeFree	This study's purpose is to investigate the association of ankylosing spondylitis with single-nucleotide polymorphisms (SNPs) in the IL-1 family: IL-1a (-889C/T) rs1800587, IL-1b (-511C/T) rs16944, IL-1b (+3962C/T) rs1143634, IL-1R (Pst-1 1970C/T) rs2234650 and IL-1RA (Mspa-1 11100C/T) rs315952.	0.023474823	2011	IL1B	2	112837290	A	G
rs16944	22285486	3553	IL1B	umls:C0038013	BeFree	Polymorphisms of IL1α rs1800587, IL1β rs16944 and IL1β rs1143634 were not significantly associated with ankylosing spondylitis but inversely in this study IL1R rs2234650 was significantly associated and carriage of T allele in IL1R rs2234650 seems to be protective, while carriage of C allele result in two fold higher risk of developing AS.	0.021541054	2011	IL1B	2	112837290	A	G
rs16944	22285486	3552	IL1A	umls:C0038013	BeFree	Polymorphisms of IL1α rs1800587, IL1β rs16944 and IL1β rs1143634 were not significantly associated with ankylosing spondylitis but inversely in this study IL1R rs2234650 was significantly associated and carriage of T allele in IL1R rs2234650 seems to be protective, while carriage of C allele result in two fold higher risk of developing AS.	0.015168407	2011	IL1B	2	112837290	A	G
rs17095830	23308121	10085	EDIL3	umls:C0038013	BeFree	A recent genome-wide association study (GWAS) showed that two new susceptibility loci between EDIL3 and HAPLN1 at 5q14.3 (rs4552569) and within ANO6 at 12q12 (rs17095830) contribute to the risk of AS in Han Chinese.	0.000271442	2013	ANO6;LOC105369743	12	45381125	A	G
rs17095830	23308121	1404	HAPLN1	umls:C0038013	BeFree	A recent genome-wide association study (GWAS) showed that two new susceptibility loci between EDIL3 and HAPLN1 at 5q14.3 (rs4552569) and within ANO6 at 12q12 (rs17095830) contribute to the risk of AS in Han Chinese.	0.000271442	2013	ANO6;LOC105369743	12	45381125	A	G
rs17095830	23308121	8213	BAS	umls:C0038013	BeFree	The correlation between genetic polymorphisms, AS activity indexes, (namely, BASDAI, BASFI and BAS-G) and AS complications (uveitis and inflammatory bowel disease) were tested using the markers, rs4552569 and rs17095830.	0.000542884	2013	ANO6;LOC105369743	12	45381125	A	G
rs17095830	23308121	196527	ANO6	umls:C0038013	BeFree	A recent genome-wide association study (GWAS) showed that two new susceptibility loci between EDIL3 and HAPLN1 at 5q14.3 (rs4552569) and within ANO6 at 12q12 (rs17095830) contribute to the risk of AS in Han Chinese.	0.242638474	2013	ANO6;LOC105369743	12	45381125	A	G
rs17095830	22138694	196527	ANO6	umls:C0038013	GAD	[A genome-wide association study in Han Chinese identifies new susceptibility loci for ankylosing spondylitis.]	0.242638474	2012	ANO6;LOC105369743	12	45381125	A	G
rs17095830	22138694	196527	ANO6	umls:C0038013	GWASCAT	A genome-wide association study in Han Chinese identifies new susceptibility loci for ankylosing spondylitis.	0.242638474	2012	ANO6;LOC105369743	12	45381125	A	G
rs17482078	22896742	907	CCT	umls:C0038013	BeFree	The rs17482078/rs10050860/rs30187-CCT haplotype was significantly associated with increased risk of SpA in both cohorts (P(combined)= 9.08×10(-4)), including AS and non-AS (P(combined)=6.16×10(-4) and P(combined)=0.049, respectively), whereas the -TTC haplotype was associated with reduced risk of SpA, including AS and non-AS (P(combined)=2.36×10(-7), P(combined)= 5.69×10(-6) and P(combined)= 2.13×10(-4), respectively).	0.000542884	2013	ERAP1;LOC102724748	5	96783162	C	G,T
rs17561	21962386	84639	IL1F10	umls:C0038013	BeFree	In addition to the three known IL-1 polymorphisms, rs2856836, rs17561, and rs1894399, found in previous meta-analysis, this meta-analysis shows that the IL-1F10.3 and IL-1A+889 polymorphisms are associated with the development of AS in Europeans but not in Asians.	0.007915422	2012	IL1A	2	112779646	C	A
rs17561	21962386	3552	IL1A	umls:C0038013	BeFree	In addition to the three known IL-1 polymorphisms, rs2856836, rs17561, and rs1894399, found in previous meta-analysis, this meta-analysis shows that the IL-1F10.3 and IL-1A+889 polymorphisms are associated with the development of AS in Europeans but not in Asians.	0.015168407	2012	IL1A	2	112779646	C	A
rs1800587	22285486	3553	IL1B	umls:C0038013	BeFree	Polymorphisms of IL1α rs1800587, IL1β rs16944 and IL1β rs1143634 were not significantly associated with ankylosing spondylitis but inversely in this study IL1R rs2234650 was significantly associated and carriage of T allele in IL1R rs2234650 seems to be protective, while carriage of C allele result in two fold higher risk of developing AS.	0.021541054	2011	IL1A	2	112785383	G	C,A
rs1800587	22285486	3557	IL1RN	umls:C0038013	BeFree	This study's purpose is to investigate the association of ankylosing spondylitis with single-nucleotide polymorphisms (SNPs) in the IL-1 family: IL-1a (-889C/T) rs1800587, IL-1b (-511C/T) rs16944, IL-1b (+3962C/T) rs1143634, IL-1R (Pst-1 1970C/T) rs2234650 and IL-1RA (Mspa-1 11100C/T) rs315952.	0.023474823	2011	IL1A	2	112785383	G	C,A
rs1800587	22285486	3552	IL1A	umls:C0038013	BeFree	Polymorphisms of IL1α rs1800587, IL1β rs16944 and IL1β rs1143634 were not significantly associated with ankylosing spondylitis but inversely in this study IL1R rs2234650 was significantly associated and carriage of T allele in IL1R rs2234650 seems to be protective, while carriage of C allele result in two fold higher risk of developing AS.	0.015168407	2011	IL1A	2	112785383	G	C,A
rs1801876	24893580	9840	TESPA1	umls:C0038013	BeFree	Lack of association between TESPA1 gene polymorphisms (rs1801876, rs2171497, rs4758994, and rs997173) and ankylosing spondylitis in a Chinese population.	0.000271442	2015	TESPA1	12	54950240	G	A
rs1894399	21962386	3552	IL1A	umls:C0038013	BeFree	In addition to the three known IL-1 polymorphisms, rs2856836, rs17561, and rs1894399, found in previous meta-analysis, this meta-analysis shows that the IL-1F10.3 and IL-1A+889 polymorphisms are associated with the development of AS in Europeans but not in Asians.	0.015168407	2012	IL1A	2	112782600	C	T
rs1894399	21962386	84639	IL1F10	umls:C0038013	BeFree	In addition to the three known IL-1 polymorphisms, rs2856836, rs17561, and rs1894399, found in previous meta-analysis, this meta-analysis shows that the IL-1F10.3 and IL-1A+889 polymorphisms are associated with the development of AS in Europeans but not in Asians.	0.007915422	2012	IL1A	2	112782600	C	T
rs2075726	22138694	1439	CSF2RB	umls:C0038013	GAD	[A genome-wide association study in Han Chinese identifies new susceptibility loci for ankylosing spondylitis.]	0.002367032	2012	CSF2RB	22	36914004	G	A
rs2171497	24893580	9840	TESPA1	umls:C0038013	BeFree	Lack of association between TESPA1 gene polymorphisms (rs1801876, rs2171497, rs4758994, and rs997173) and ankylosing spondylitis in a Chinese population.	0.000271442	2015	TESPA1	12	54950349	C	G
rs2234650	22285486	3557	IL1RN	umls:C0038013	BeFree	This study's purpose is to investigate the association of ankylosing spondylitis with single-nucleotide polymorphisms (SNPs) in the IL-1 family: IL-1a (-889C/T) rs1800587, IL-1b (-511C/T) rs16944, IL-1b (+3962C/T) rs1143634, IL-1R (Pst-1 1970C/T) rs2234650 and IL-1RA (Mspa-1 11100C/T) rs315952.	0.023474823	2011	IL1R1	2	102141867	C	T
rs2234650	22285486	3552	IL1A	umls:C0038013	BeFree	Polymorphisms of IL1α rs1800587, IL1β rs16944 and IL1β rs1143634 were not significantly associated with ankylosing spondylitis but inversely in this study IL1R rs2234650 was significantly associated and carriage of T allele in IL1R rs2234650 seems to be protective, while carriage of C allele result in two fold higher risk of developing AS.	0.015168407	2011	IL1R1	2	102141867	C	T
rs2234650	22285486	3553	IL1B	umls:C0038013	BeFree	Polymorphisms of IL1α rs1800587, IL1β rs16944 and IL1β rs1143634 were not significantly associated with ankylosing spondylitis but inversely in this study IL1R rs2234650 was significantly associated and carriage of T allele in IL1R rs2234650 seems to be protective, while carriage of C allele result in two fold higher risk of developing AS.	0.021541054	2011	IL1R1	2	102141867	C	T
rs2254441	22984424	7133	TNFRSF1B	umls:C0038013	BeFree	Polymorphisms associated in the allele frequencies test with severe BASFI/t in all classifications were: rs2542151 (p60 [P = .04], p65 [P = .04], p70 [P = .001] and p75 [P = .001]) and rs2254441 (p60 [P = .004], p65 [P = .02], p70 [P = .01] and p75 [P<.001]).. Genotype association, after adjustment for covariates, found an association in three of the four patients' classifications for rs2542151 and in two of the classifications for rs2254441.Forward logistic regression did not identify any model with a good predictive power for severe functional development.In our study we identified clinical factors and 24 polymorphisms associated with development of severe functional status in AS patients.	0.003181358	2012	PSTPIP1	15	76995677	G	A
rs2254441	22984424	84959	UBASH3B	umls:C0038013	BeFree	Polymorphisms associated in the allele frequencies test with severe BASFI/t in all classifications were: rs2542151 (p60 [P = .04], p65 [P = .04], p70 [P = .001] and p75 [P = .001]) and rs2254441 (p60 [P = .004], p65 [P = .02], p70 [P = .01] and p75 [P<.001]).. Genotype association, after adjustment for covariates, found an association in three of the four patients' classifications for rs2542151 and in two of the classifications for rs2254441.Forward logistic regression did not identify any model with a good predictive power for severe functional development.In our study we identified clinical factors and 24 polymorphisms associated with development of severe functional status in AS patients.	0.000271442	2012	PSTPIP1	15	76995677	G	A
rs2297909	21743469	23046	KIF21B	umls:C0038013	GAD	[Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility.]	0.122638474	2011	KIF21B	1	200991179	G	A
rs2297909	21743469	23046	KIF21B	umls:C0038013	GWASCAT	Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility.	0.122638474	2011	KIF21B	1	200991179	G	A
rs2310173	20062062	7850	IL1R2	umls:C0038013	GAD	[Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci.]	0.122909916	2010	NA	2	102047167	T	G
rs2542151	22984424	7133	TNFRSF1B	umls:C0038013	BeFree	Polymorphisms associated in the allele frequencies test with severe BASFI/t in all classifications were: rs2542151 (p60 [P = .04], p65 [P = .04], p70 [P = .001] and p75 [P = .001]) and rs2254441 (p60 [P = .004], p65 [P = .02], p70 [P = .01] and p75 [P<.001]).. Genotype association, after adjustment for covariates, found an association in three of the four patients' classifications for rs2542151 and in two of the classifications for rs2254441.Forward logistic regression did not identify any model with a good predictive power for severe functional development.In our study we identified clinical factors and 24 polymorphisms associated with development of severe functional status in AS patients.	0.003181358	2012	NA	18	12779948	G	T
rs2542151	22984424	84959	UBASH3B	umls:C0038013	BeFree	Polymorphisms associated in the allele frequencies test with severe BASFI/t in all classifications were: rs2542151 (p60 [P = .04], p65 [P = .04], p70 [P = .001] and p75 [P = .001]) and rs2254441 (p60 [P = .004], p65 [P = .02], p70 [P = .01] and p75 [P<.001]).. Genotype association, after adjustment for covariates, found an association in three of the four patients' classifications for rs2542151 and in two of the classifications for rs2254441.Forward logistic regression did not identify any model with a good predictive power for severe functional development.In our study we identified clinical factors and 24 polymorphisms associated with development of severe functional status in AS patients.	0.000271442	2012	NA	18	12779948	G	T
rs27044	20032103	3106	HLA-B	umls:C0038013	BeFree	Association of ARTS1 gene polymorphisms with ankylosing spondylitis in the Hungarian population: the rs27044 variant is associated with HLA-B*2705 subtype in Hungarian patients with ankylosing spondylitis.	0.372778901	2010	ERAP1;LOC102724748	5	96783148	G	C
rs27044	23800305	51752	ERAP1	umls:C0038013	BeFree	We investigated two nonsynonymous variants (rs30187 and rs27044) of ERAP1 gene in HLA-B27 positive individuals (150 spondyloarthritis and 108 controls) and in general ankylosing spondylitis (AS) patients (n = 137) vs random controls (n = 139).	0.276589909	2013	ERAP1;LOC102724748	5	96783148	G	C
rs27044	19404951	907	CCT	umls:C0038013	BeFree	A specific ERAP1 haplotype, rs27044/10050860/30187-CCT, was strongly associated with increased risk of AS in all 3 case-control cohorts (pooled odds ratio [OR] 1.81, 95% confidence interval [95% CI] 1.46-2.24; P=7x10(-8)), while a second specific ERAP1 haplotype, rs30187/26618/26653-CTG, reduced the disease risk (pooled OR 0.77, 95% CI 0.67-0.88; P=9x10(-5)).	0.000542884	2009	ERAP1;LOC102724748	5	96783148	G	C
rs27044	20032103	51752	ERAP1	umls:C0038013	BeFree	Association of ARTS1 gene polymorphisms with ankylosing spondylitis in the Hungarian population: the rs27044 variant is associated with HLA-B*2705 subtype in Hungarian patients with ankylosing spondylitis.	0.276589909	2010	ERAP1;LOC102724748	5	96783148	G	C
rs27044	19404951	5079	PAX5	umls:C0038013	BeFree	A specific ERAP1 haplotype, rs27044/10050860/30187-CCT, was strongly associated with increased risk of AS in all 3 case-control cohorts (pooled odds ratio [OR] 1.81, 95% confidence interval [95% CI] 1.46-2.24; P=7x10(-8)), while a second specific ERAP1 haplotype, rs30187/26618/26653-CTG, reduced the disease risk (pooled OR 0.77, 95% CI 0.67-0.88; P=9x10(-5)).	0.000271442	2009	ERAP1;LOC102724748	5	96783148	G	C
rs27434	20062062	51752	ERAP1	umls:C0038013	GAD	[Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci.]	0.276589909	2010	ERAP1	5	96793809	A	G,T
rs27434	20062062	51752	ERAP1	umls:C0038013	GWASCAT	Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci.	0.276589909	2010	ERAP1	5	96793809	A	G,T
rs2856836	21962386	3552	IL1A	umls:C0038013	BeFree	In addition to the three known IL-1 polymorphisms, rs2856836, rs17561, and rs1894399, found in previous meta-analysis, this meta-analysis shows that the IL-1F10.3 and IL-1A+889 polymorphisms are associated with the development of AS in Europeans but not in Asians.	0.015168407	2012	IL1A	2	112774506	A	G
rs2856836	21962386	84639	IL1F10	umls:C0038013	BeFree	In addition to the three known IL-1 polymorphisms, rs2856836, rs17561, and rs1894399, found in previous meta-analysis, this meta-analysis shows that the IL-1F10.3 and IL-1A+889 polymorphisms are associated with the development of AS in Europeans but not in Asians.	0.007915422	2012	IL1A	2	112774506	A	G
rs30187	25469497	51752	ERAP1	umls:C0038013	BeFree	The significant alterations in the B*27:05 peptidome and the structural features of the peptides that determine their differential expression in distinct ERAP1 contexts account for the association of the R528K polymorphism with AS.	0.276589909	2014	ERAP1	5	96788627	T	C
rs30187	21743469	51752	ERAP1	umls:C0038013	GAD	[Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility.]	0.276589909	2011	ERAP1	5	96788627	T	C
rs30187	21743469	51752	ERAP1	umls:C0038013	GWASCAT	Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility.	0.276589909	2011	ERAP1	5	96788627	T	C
rs30187	19404951	5079	PAX5	umls:C0038013	BeFree	A specific ERAP1 haplotype, rs27044/10050860/30187-CCT, was strongly associated with increased risk of AS in all 3 case-control cohorts (pooled odds ratio [OR] 1.81, 95% confidence interval [95% CI] 1.46-2.24; P=7x10(-8)), while a second specific ERAP1 haplotype, rs30187/26618/26653-CTG, reduced the disease risk (pooled OR 0.77, 95% CI 0.67-0.88; P=9x10(-5)).	0.000271442	2009	ERAP1	5	96788627	T	C
rs30187	23800305	51752	ERAP1	umls:C0038013	BeFree	We investigated two nonsynonymous variants (rs30187 and rs27044) of ERAP1 gene in HLA-B27 positive individuals (150 spondyloarthritis and 108 controls) and in general ankylosing spondylitis (AS) patients (n = 137) vs random controls (n = 139).	0.276589909	2013	ERAP1	5	96788627	T	C
rs30187	19404951	907	CCT	umls:C0038013	BeFree	A specific ERAP1 haplotype, rs27044/10050860/30187-CCT, was strongly associated with increased risk of AS in all 3 case-control cohorts (pooled odds ratio [OR] 1.81, 95% confidence interval [95% CI] 1.46-2.24; P=7x10(-8)), while a second specific ERAP1 haplotype, rs30187/26618/26653-CTG, reduced the disease risk (pooled OR 0.77, 95% CI 0.67-0.88; P=9x10(-5)).	0.000542884	2009	ERAP1	5	96788627	T	C
rs30187	22896742	907	CCT	umls:C0038013	BeFree	The rs17482078/rs10050860/rs30187-CCT haplotype was significantly associated with increased risk of SpA in both cohorts (P(combined)= 9.08×10(-4)), including AS and non-AS (P(combined)=6.16×10(-4) and P(combined)=0.049, respectively), whereas the -TTC haplotype was associated with reduced risk of SpA, including AS and non-AS (P(combined)=2.36×10(-7), P(combined)= 5.69×10(-6) and P(combined)= 2.13×10(-4), respectively).	0.000542884	2013	ERAP1	5	96788627	T	C
rs315952	22285486	3557	IL1RN	umls:C0038013	BeFree	This study's purpose is to investigate the association of ankylosing spondylitis with single-nucleotide polymorphisms (SNPs) in the IL-1 family: IL-1a (-889C/T) rs1800587, IL-1b (-511C/T) rs16944, IL-1b (+3962C/T) rs1143634, IL-1R (Pst-1 1970C/T) rs2234650 and IL-1RA (Mspa-1 11100C/T) rs315952.	0.023474823	2011	IL1RN	2	113132727	T	A,C
rs3810936	26200500	9966	TNFSF15	umls:C0038013	BeFree	Stratification according to AS status did not reveal a difference concerning the association with TNFSF15-rs3810936.	0.000542884	2015	TNFSF15	9	114790605	T	C
rs3812571	20463747	6621	SNAPC4	umls:C0038013	BeFree	A recent genome-wide association screen (GWAS) identified associations (P approximately 0.005) with the non-synonymous single-nucleotide polymorphisms (nsSNPs), rs4077515 and rs3812571, in caspase recruitment domain-containing protein 9 (CARD9) and small nuclear RNA-activating complex polypeptide 4 (SNAPC4) on chromosome 9q that had previously been linked to AS.	0.000542884	2010	SNAPC4	9	136380842	G	A,C
rs4077515	20463747	6621	SNAPC4	umls:C0038013	BeFree	A recent genome-wide association screen (GWAS) identified associations (P approximately 0.005) with the non-synonymous single-nucleotide polymorphisms (nsSNPs), rs4077515 and rs3812571, in caspase recruitment domain-containing protein 9 (CARD9) and small nuclear RNA-activating complex polypeptide 4 (SNAPC4) on chromosome 9q that had previously been linked to AS.	0.000542884	2010	CARD9	9	136372044	C	T
rs4333130	20062062	118429	ANTXR2	umls:C0038013	GWASCAT	Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci.	0.246091273	2010	ANTXR2	4	80028675	C	T
rs4333130	20062062	118429	ANTXR2	umls:C0038013	GAD	[Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci.]	0.246091273	2010	ANTXR2	4	80028675	C	T
rs4349859	22231927	149233	IL23R	umls:C0038013	BeFree	The frequencies of AS susceptibility loci in IL-23R, IL1R2, ANTXR2, ERAP-1, 2 intergenic regions on chromosomes 2p15 and 21q22, and HLA-B27 status as determined by the tag single-nucleotide polymorphism (SNP) rs4349859 were compared between familial and sporadic cases of AS.	0.281172083	2012	MICA;LOC101929072	6	31398010	G	A
rs4349859	21743469	100507436	MICA	umls:C0038013	GWASCAT	Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility.	0.128729747	2011	MICA;LOC101929072	6	31398010	G	A
rs4349859	21743469	101929072	LOC101929072	umls:C0038013	GWASCAT	Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility.	0.12	2011	MICA;LOC101929072	6	31398010	G	A
rs4389526	21743469	118429	ANTXR2	umls:C0038013	GWASCAT	Here we report the identification of three variants in the RUNX3, LTBR-TNFRSF1A and IL12B regions convincingly associated with ankylosing spondylitis (P < 5 × 10(-8) in the combined discovery and replication datasets) and a further four loci at PTGER4, TBKBP1, ANTXR2 and CARD9 that show strong association across all our datasets (P < 5 × 10(-6) overall, with support in each of the three datasets studied).	0.246091273	2011	ANTXR2	4	80025321	T	A
rs4389526	21743469	118429	ANTXR2	umls:C0038013	GAD	[Here we report the identification of three variants in the RUNX3, LTBR-TNFRSF1A and IL12B regions convincingly associated with ankylosing spondylitis (P < 5 A 10(-8) in the combined discovery and replication datasets) and a further four loci at PTGER4, TBKBP1, ANTXR2 and CARD9 that show strong association across all our datasets (P < 5 A 10(-6) overall, with support in each of the three datasets studied).]	0.246091273	2011	ANTXR2	4	80025321	T	A
rs4552569	23308121	1404	HAPLN1	umls:C0038013	BeFree	A recent genome-wide association study (GWAS) showed that two new susceptibility loci between EDIL3 and HAPLN1 at 5q14.3 (rs4552569) and within ANO6 at 12q12 (rs17095830) contribute to the risk of AS in Han Chinese.	0.000271442	2013	NA	5	83877774	C	T
rs4552569	23308121	196527	ANO6	umls:C0038013	BeFree	A recent genome-wide association study (GWAS) showed that two new susceptibility loci between EDIL3 and HAPLN1 at 5q14.3 (rs4552569) and within ANO6 at 12q12 (rs17095830) contribute to the risk of AS in Han Chinese.	0.242638474	2013	NA	5	83877774	C	T
rs4552569	23308121	8213	BAS	umls:C0038013	BeFree	The correlation between genetic polymorphisms, AS activity indexes, (namely, BASDAI, BASFI and BAS-G) and AS complications (uveitis and inflammatory bowel disease) were tested using the markers, rs4552569 and rs17095830.	0.000542884	2013	NA	5	83877774	C	T
rs4552569	23308121	10085	EDIL3	umls:C0038013	BeFree	A recent genome-wide association study (GWAS) showed that two new susceptibility loci between EDIL3 and HAPLN1 at 5q14.3 (rs4552569) and within ANO6 at 12q12 (rs17095830) contribute to the risk of AS in Han Chinese.	0.000271442	2013	NA	5	83877774	C	T
rs4758994	24893580	9840	TESPA1	umls:C0038013	BeFree	Lack of association between TESPA1 gene polymorphisms (rs1801876, rs2171497, rs4758994, and rs997173) and ankylosing spondylitis in a Chinese population.	0.000271442	2015	TESPA1	12	54974584	G	A
rs4937333	24708692	79969	ATAT1	umls:C0038013	BeFree	Carriers of the haplotype TAT for rs12574073, rs1128334 and rs4937333 were associated with increased risk of AS and haplotype CGC with reduced risk as compared to controls.	0.000271442	2014	ETS1	11	128460625	T	C
rs4986790	15647432	7099	TLR4	umls:C0038013	BeFree	No evidence for involvement of the Toll-like receptor 4 (TLR4) A896G and CD14-C260T polymorphisms in susceptibility to ankylosing spondylitis.	0.009901391	2005	TLR4	9	117713024	A	G
rs4986790	15647432	929	CD14	umls:C0038013	BeFree	No evidence for involvement of the Toll-like receptor 4 (TLR4) A896G and CD14-C260T polymorphisms in susceptibility to ankylosing spondylitis.	0.000542884	2005	TLR4	9	117713024	A	G
rs4986790	15647432	4695	NDUFA2	umls:C0038013	BeFree	No evidence for involvement of the Toll-like receptor 4 (TLR4) A896G and CD14-C260T polymorphisms in susceptibility to ankylosing spondylitis.	0.000542884	2005	TLR4	9	117713024	A	G
rs4986790	16567359	7099	TLR4	umls:C0038013	BeFree	Toll-like receptor 4 Asp299Gly and Thr399Ile polymorphisms do not contribute to disease susceptibility in either AS or ReA.	0.009901391	2006	TLR4	9	117713024	A	G
rs4986791	16567359	7099	TLR4	umls:C0038013	BeFree	Toll-like receptor 4 Asp299Gly and Thr399Ile polymorphisms do not contribute to disease susceptibility in either AS or ReA.	0.009901391	2006	TLR4	9	117713324	C	T
rs61744247	25469497	51752	ERAP1	umls:C0038013	BeFree	The significant alterations in the B*27:05 peptidome and the structural features of the peptides that determine their differential expression in distinct ERAP1 contexts account for the association of the R528K polymorphism with AS.	0.276589909	2014	CAST;ERAP1	5	96762275	A	G
rs6476985	21269571	80380	PDCD1LG2	umls:C0038013	BeFree	However, we did not find any evidence of genetic association between PD-L2 rs1009759/rs6476985 polymorphisms and AS (p=0.371 and 0.061, respectively).	0.000271442	2011	PDCD1LG2	9	5517559	C	T
rs6556416	21743469	3593	IL12B	umls:C0038013	GAD	[Here we report the identification of three variants in the RUNX3, LTBR-TNFRSF1A and IL12B regions convincingly associated with ankylosing spondylitis (P < 5 A 10(-8) in the combined discovery and replication datasets) and a further four loci at PTGER4, TBKBP1, ANTXR2 and CARD9 that show strong association across all our datasets (P < 5 A 10(-6) overall, with support in each of the three datasets studied).]	0.123452799	2011	NA	5	159391737	A	C
rs7379457	23637848	133522	PPARGC1B	umls:C0038013	BeFree	The rs7379457 SNP in PPARGC1B, the rs1395621 and rs9438876 SNPs in RUNX3, and the rs8070463 SNP in TBKBP1 are related to the severity of AS in Chinese Han population.	0.000542884	2013	PPARGC1B	5	149729316	C	T
rs7379457	23637848	864	RUNX3	umls:C0038013	BeFree	The rs7379457 SNP in PPARGC1B, the rs1395621 and rs9438876 SNPs in RUNX3, and the rs8070463 SNP in TBKBP1 are related to the severity of AS in Chinese Han population.	0.123452799	2013	PPARGC1B	5	149729316	C	T
rs8070463	23637848	133522	PPARGC1B	umls:C0038013	BeFree	The rs7379457 SNP in PPARGC1B, the rs1395621 and rs9438876 SNPs in RUNX3, and the rs8070463 SNP in TBKBP1 are related to the severity of AS in Chinese Han population.	0.000542884	2013	NA	17	47691470	T	C
rs8070463	23637848	864	RUNX3	umls:C0038013	BeFree	The rs7379457 SNP in PPARGC1B, the rs1395621 and rs9438876 SNPs in RUNX3, and the rs8070463 SNP in TBKBP1 are related to the severity of AS in Chinese Han population.	0.123452799	2013	NA	17	47691470	T	C
rs9438876	23637848	864	RUNX3	umls:C0038013	BeFree	The rs7379457 SNP in PPARGC1B, the rs1395621 and rs9438876 SNPs in RUNX3, and the rs8070463 SNP in TBKBP1 are related to the severity of AS in Chinese Han population.	0.123452799	2013	RUNX3	1	24914625	A	G
rs9438876	23637848	133522	PPARGC1B	umls:C0038013	BeFree	The rs7379457 SNP in PPARGC1B, the rs1395621 and rs9438876 SNPs in RUNX3, and the rs8070463 SNP in TBKBP1 are related to the severity of AS in Chinese Han population.	0.000542884	2013	RUNX3	1	24914625	A	G
rs997173	24893580	9840	TESPA1	umls:C0038013	BeFree	Lack of association between TESPA1 gene polymorphisms (rs1801876, rs2171497, rs4758994, and rs997173) and ankylosing spondylitis in a Chinese population.	0.000271442	2015	TESPA1	12	54961249	C	T

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

GWASdb Snp Trait(Total Genotypes:70)
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	25294878	rs10903118	T	C	rs10903118	21743469	7.00E-04	NA	NA	NA	3,023 European ancestry cases; 8,779 European ancestry controls	European(11802)	ALL(11802)	EUR(11802)	ALL(11802)	Ankylosing spondylitis	HPOID:0003306	Spinal rigidity	DOID:7147	ankylosing spondylitis	D013167	Spondylitis, Ankylosing	EFOID:0003898	ankylosing spondylitis	Ankylosing spondylitis	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, N.I.H., Intramural
1	25297184	rs11249215	G	A	rs11249215	21743469	9.00E-11	NA	NA	NA	3,023 European ancestry cases; 8,779 European ancestry controls	European(11802)	ALL(11802)	EUR(11802)	ALL(11802)	Ankylosing spondylitis	HPOID:0003306	Spinal rigidity	DOID:7147	ankylosing spondylitis	D013167	Spondylitis, Ankylosing	EFOID:0003898	ankylosing spondylitis	Ankylosing spondylitis	rs11249215-A	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, N.I.H., Intramural
1	67702526	rs11465804	T	G	rs11465804	21743469	6.20E-06	NA	NA	NA	3,023 European ancestry cases; 8,779 European ancestry controls	European(11802)	ALL(11802)	EUR(11802)	ALL(11802)	Ankylosing spondylitis	HPOID:0003306	Spinal rigidity	DOID:7147	ankylosing spondylitis	D013167	Spondylitis, Ankylosing	EFOID:0003898	ankylosing spondylitis	Ankylosing spondylitis	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, N.I.H., Intramural
1	67705958	rs11209026	G	A	rs11209026	20062062	9.00E-14	NA	1.89	[1.56-2.27]	2,053 European descent cases; 5,140 European descent controls	European(7193)	ALL(7193)	EUR(7193)	ALL(7193)	Ankylosing spondylitis	HPOID:0003306	Spinal rigidity	DOID:7147	ankylosing spondylitis	D013167	Spondylitis, Ankylosing	EFOID:0003898	ankylosing spondylitis	Ankylosing spondylitis	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, N.I.H., Intramural
1	67705958	rs11209026	G	A	rs11209026	21743469	2.00E-17	NA	NA	NA	3,023 European ancestry cases; 8,779 European ancestry controls	European(11802)	ALL(11802)	EUR(11802)	ALL(11802)	Ankylosing spondylitis	HPOID:0003306	Spinal rigidity	DOID:7147	ankylosing spondylitis	D013167	Spondylitis, Ankylosing	EFOID:0003898	ankylosing spondylitis	Ankylosing spondylitis	rs11209026-G	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, N.I.H., Intramural
1	67740092	rs11209032	G	A	rs11209032	21743469	8.00E-05	NA	NA	NA	3,023 European ancestry cases; 8,779 European ancestry controls	European(11802)	ALL(11802)	EUR(11802)	ALL(11802)	Ankylosing spondylitis	HPOID:0003306	Spinal rigidity	DOID:7147	ankylosing spondylitis	D013167	Spondylitis, Ankylosing	EFOID:0003898	ankylosing spondylitis	Ankylosing spondylitis	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, N.I.H., Intramural
1	67750474	rs7546245	T	C	rs7546245	21743469	2.80E-04	NA	NA	NA	3,023 European ancestry cases; 8,779 European ancestry controls	European(11802)	ALL(11802)	EUR(11802)	ALL(11802)	Ankylosing spondylitis	HPOID:0003306	Spinal rigidity	DOID:7147	ankylosing spondylitis	D013167	Spondylitis, Ankylosing	EFOID:0003898	ankylosing spondylitis	Ankylosing spondylitis	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, N.I.H., Intramural
1	200886333	rs378672	C	G	rs378672	21743469	3.60E-05	NA	NA	NA	3,023 European ancestry cases; 8,779 European ancestry controls	European(11802)	ALL(11802)	EUR(11802)	ALL(11802)	Ankylosing spondylitis	HPOID:0003306	Spinal rigidity	DOID:7147	ankylosing spondylitis	D013167	Spondylitis, Ankylosing	EFOID:0003898	ankylosing spondylitis	Ankylosing spondylitis	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, N.I.H., Intramural
1	200960307	rs2297909	G	A	rs2297909	21743469	5.00E-12	NA	NA	NA	3,023 European ancestry cases; 8,779 European ancestry controls	European(11802)	ALL(11802)	EUR(11802)	ALL(11802)	Ankylosing spondylitis	HPOID:0003306	Spinal rigidity	DOID:7147	ankylosing spondylitis	D013167	Spondylitis, Ankylosing	EFOID:0003898	ankylosing spondylitis	Ankylosing spondylitis	rs2297909-G	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, N.I.H., Intramural
2	62521244	rs4672495	G	T	rs4672495	20062062	3.20E-09	NA	NA	NA	2,053 European descent cases; 5,140 European descent controls	European(7193)	ALL(7193)	EUR(7193)	ALL(7193)	Ankylosing spondylitis	HPOID:0003306	Spinal rigidity	DOID:7147	ankylosing spondylitis	D013167	Spondylitis, Ankylosing	EFOID:0003898	ankylosing spondylitis	Ankylosing spondylitis	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, N.I.H., Intramural
2	62551472	rs10865331	A	G	rs10865331	20062062	2.00E-19	NA	1.27	[1.18-1.37]	2,053 European descent cases; 5,140 European descent controls	European(7193)	ALL(7193)	EUR(7193)	ALL(7193)	Ankylosing spondylitis	HPOID:0003306	Spinal rigidity	DOID:7147	ankylosing spondylitis	D013167	Spondylitis, Ankylosing	EFOID:0003898	ankylosing spondylitis	Ankylosing spondylitis	rs10865331-A	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, N.I.H., Intramural
2	62551472	rs10865331	A	G	rs10865331	21743469	7.00E-34	NA	NA	NA	3,023 European ancestry cases; 8,779 European ancestry controls	European(11802)	ALL(11802)	EUR(11802)	ALL(11802)	Ankylosing spondylitis	HPOID:0003306	Spinal rigidity	DOID:7147	ankylosing spondylitis	D013167	Spondylitis, Ankylosing	EFOID:0003898	ankylosing spondylitis	Ankylosing spondylitis	rs10865331-A	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, N.I.H., Intramural
2	102663628	rs2310173	T	G	rs2310173	20062062	5.00E-07	NA	1.18	[1.10-1.27]	2,053 European descent cases; 5,140 European descent controls	European(7193)	ALL(7193)	EUR(7193)	ALL(7193)	Ankylosing spondylitis	HPOID:0003306	Spinal rigidity	DOID:7147	ankylosing spondylitis	D013167	Spondylitis, Ankylosing	EFOID:0003898	ankylosing spondylitis	Ankylosing spondylitis	rs2310173-A	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, N.I.H., Intramural
2	182007800	rs1018326	T	C	rs1018326	20062062	2.00E-06	NA	1.24	[1.15-1.33]	2,053 European descent cases; 5,140 European descent controls	European(7193)	ALL(7193)	EUR(7193)	ALL(7193)	Ankylosing spondylitis	HPOID:0003306	Spinal rigidity	DOID:7147	ankylosing spondylitis	D013167	Spondylitis, Ankylosing	EFOID:0003898	ankylosing spondylitis	Ankylosing spondylitis	rs1018326-C	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, N.I.H., Intramural
3	39005889	rs4491835	T	C	rs4491835	22138694	4.78E-04	NA	NA	NA	1,837 Han Chinese cases; 4,231 Han Chinese controls	Han Chinese(6068)	ALL(6068)	ASN(6068)	ALL(6068)	Ankylosing spondylitis	HPOID:0003306	Spinal rigidity	DOID:7147	ankylosing spondylitis	D013167	Spondylitis, Ankylosing	EFOID:0003898	ankylosing spondylitis	Ankylosing spondylitis	NA	Research Support, Non-U.S. Gov't	T,C	NA
3	55194956	rs753294	A	G	rs753294	20062062	8.40E-05	NA	NA	NA	2,053 European descent cases; 5,140 European descent controls	European(7193)	ALL(7193)	EUR(7193)	ALL(7193)	Ankylosing spondylitis	HPOID:0003306	Spinal rigidity	DOID:7147	ankylosing spondylitis	D013167	Spondylitis, Ankylosing	EFOID:0003898	ankylosing spondylitis	Ankylosing spondylitis	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, N.I.H., Intramural
4	63280732	rs10517820	A	G	rs10517820	20062062	8.80E-05	NA	NA	NA	2,053 European descent cases; 5,140 European descent controls	European(7193)	ALL(7193)	EUR(7193)	ALL(7193)	Ankylosing spondylitis	HPOID:0003306	Spinal rigidity	DOID:7147	ankylosing spondylitis	D013167	Spondylitis, Ankylosing	EFOID:0003898	ankylosing spondylitis	Ankylosing spondylitis	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, N.I.H., Intramural
4	80946475	rs4389526	T	A	rs4389526	21743469	9.00E-08	NA	NA	NA	3,023 European ancestry cases; 8,779 European ancestry controls	European(11802)	ALL(11802)	EUR(11802)	ALL(11802)	Ankylosing spondylitis	HPOID:0003306	Spinal rigidity	DOID:7147	ankylosing spondylitis	D013167	Spondylitis, Ankylosing	EFOID:0003898	ankylosing spondylitis	Ankylosing spondylitis	rs4389526-A	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, N.I.H., Intramural
4	80949829	rs4333130	C	T	rs4333130	20062062	9.00E-08	NA	1.22	[1.12-1.32]	2,053 European descent cases; 5,140 European descent controls	European(7193)	ALL(7193)	EUR(7193)	ALL(7193)	Ankylosing spondylitis	HPOID:0003306	Spinal rigidity	DOID:7147	ankylosing spondylitis	D013167	Spondylitis, Ankylosing	EFOID:0003898	ankylosing spondylitis	Ankylosing spondylitis	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, N.I.H., Intramural
5	40490790	rs10440635	G	A	rs10440635	21743469	3.00E-07	NA	NA	NA	3,023 European ancestry cases; 8,779 European ancestry controls	European(11802)	ALL(11802)	EUR(11802)	ALL(11802)	Ankylosing spondylitis	HPOID:0003306	Spinal rigidity	DOID:7147	ankylosing spondylitis	D013167	Spondylitis, Ankylosing	EFOID:0003898	ankylosing spondylitis	Ankylosing spondylitis	rs10440635-A	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, N.I.H., Intramural
5	83173593	rs4552569	C	T	rs4552569	22138694	9.00E-10	NA	1.21	[1.14-1.29]	1,837 Han Chinese cases; 4,231 Han Chinese controls	Han Chinese(6068)	ALL(6068)	ASN(6068)	ALL(6068)	Ankylosing spondylitis	HPOID:0003306	Spinal rigidity	DOID:7147	ankylosing spondylitis	D013167	Spondylitis, Ankylosing	EFOID:0003898	ankylosing spondylitis	Ankylosing spondylitis	rs4552569-C	Research Support, Non-U.S. Gov't	T	NA
5	96094694	rs27037	T	G	rs27037	20062062	8.20E-11	NA	NA	NA	2,053 European descent cases; 5,140 European descent controls	European(7193)	ALL(7193)	EUR(7193)	ALL(7193)	Ankylosing spondylitis	HPOID:0003306	Spinal rigidity	DOID:7147	ankylosing spondylitis	D013167	Spondylitis, Ankylosing	EFOID:0003898	ankylosing spondylitis	Ankylosing spondylitis	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, N.I.H., Intramural
5	96122210	rs10050860	C	T	rs10050860	21743469	1.10E-08	NA	NA	NA	3,023 European ancestry cases; 8,779 European ancestry controls	European(11802)	ALL(11802)	EUR(11802)	ALL(11802)	Ankylosing spondylitis	HPOID:0003306	Spinal rigidity	DOID:7147	ankylosing spondylitis	D013167	Spondylitis, Ankylosing	EFOID:0003898	ankylosing spondylitis	Ankylosing spondylitis	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, N.I.H., Intramural
5	96124330	rs30187	T	C	rs30187	21743469	2.00E-27	NA	NA	NA	3,023 European ancestry cases; 8,779 European ancestry controls	European(11802)	ALL(11802)	EUR(11802)	ALL(11802)	Ankylosing spondylitis	HPOID:0003306	Spinal rigidity	DOID:7147	ankylosing spondylitis	D013167	Spondylitis, Ankylosing	EFOID:0003898	ankylosing spondylitis	Ankylosing spondylitis	rs30187-T	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, N.I.H., Intramural
5	96125785	rs13170045	G	T	rs13170045	21743469	7.70E-10	NA	NA	NA	3,023 European ancestry cases; 8,779 European ancestry controls	European(11802)	ALL(11802)	EUR(11802)	ALL(11802)	Ankylosing spondylitis	HPOID:0003306	Spinal rigidity	DOID:7147	ankylosing spondylitis	D013167	Spondylitis, Ankylosing	EFOID:0003898	ankylosing spondylitis	Ankylosing spondylitis	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, N.I.H., Intramural
5	96126197	rs27710	A	G	rs27710	21743469	7.60E-10	NA	NA	NA	3,023 European ancestry cases; 8,779 European ancestry controls	European(11802)	ALL(11802)	EUR(11802)	ALL(11802)	Ankylosing spondylitis	HPOID:0003306	Spinal rigidity	DOID:7147	ankylosing spondylitis	D013167	Spondylitis, Ankylosing	EFOID:0003898	ankylosing spondylitis	Ankylosing spondylitis	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, N.I.H., Intramural
5	96129512	rs27434	A	G	rs27434	20062062	5.00E-12	NA	1.19	[1.10-1.30]	2,053 European descent cases; 5,140 European descent controls	European(7193)	ALL(7193)	EUR(7193)	ALL(7193)	Ankylosing spondylitis	HPOID:0003306	Spinal rigidity	DOID:7147	ankylosing spondylitis	D013167	Spondylitis, Ankylosing	EFOID:0003898	ankylosing spondylitis	Ankylosing spondylitis	rs27434-A	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, N.I.H., Intramural
5	158814533	rs10045431	A	C	rs10045431	21743469	1.10E-04	NA	NA	NA	3,023 European ancestry cases; 8,779 European ancestry controls	European(11802)	ALL(11802)	EUR(11802)	ALL(11802)	Ankylosing spondylitis	HPOID:0003306	Spinal rigidity	DOID:7147	ankylosing spondylitis	D013167	Spondylitis, Ankylosing	EFOID:0003898	ankylosing spondylitis	Ankylosing spondylitis	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, N.I.H., Intramural
5	158818745	rs6556416	A	C	rs6556416	21743469	2.00E-08	NA	NA	NA	3,023 European ancestry cases; 8,779 European ancestry controls	European(11802)	ALL(11802)	EUR(11802)	ALL(11802)	Ankylosing spondylitis	HPOID:0003306	Spinal rigidity	DOID:7147	ankylosing spondylitis	D013167	Spondylitis, Ankylosing	EFOID:0003898	ankylosing spondylitis	Ankylosing spondylitis	rs6556416-C	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, N.I.H., Intramural
6	25874423	rs13198474	G	A	rs13198474	20062062	3.00E-06	NA	NA	NA	2,053 European descent cases; 5,140 European descent controls	European(7193)	ALL(7193)	EUR(7193)	ALL(7193)	Ankylosing spondylitis	HPOID:0003306	Spinal rigidity	DOID:7147	ankylosing spondylitis	D013167	Spondylitis, Ankylosing	EFOID:0003898	ankylosing spondylitis	Ankylosing spondylitis	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, N.I.H., Intramural
6	25925987	rs3734523	G	A	rs3734523	20062062	1.60E-08	NA	NA	NA	2,053 European descent cases; 5,140 European descent controls	European(7193)	ALL(7193)	EUR(7193)	ALL(7193)	Ankylosing spondylitis	HPOID:0003306	Spinal rigidity	DOID:7147	ankylosing spondylitis	D013167	Spondylitis, Ankylosing	EFOID:0003898	ankylosing spondylitis	Ankylosing spondylitis	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, N.I.H., Intramural
6	26175852	rs9379831	C	A	rs9379831	20062062	3.90E-08	NA	NA	NA	2,053 European descent cases; 5,140 European descent controls	European(7193)	ALL(7193)	EUR(7193)	ALL(7193)	Ankylosing spondylitis	HPOID:0003306	Spinal rigidity	DOID:7147	ankylosing spondylitis	D013167	Spondylitis, Ankylosing	EFOID:0003898	ankylosing spondylitis	Ankylosing spondylitis	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, N.I.H., Intramural
6	26233387	rs10946808	A	G	rs10946808	20062062	4.50E-07	NA	NA	NA	2,053 European descent cases; 5,140 European descent controls	European(7193)	ALL(7193)	EUR(7193)	ALL(7193)	Ankylosing spondylitis	HPOID:0003306	Spinal rigidity	DOID:7147	ankylosing spondylitis	D013167	Spondylitis, Ankylosing	EFOID:0003898	ankylosing spondylitis	Ankylosing spondylitis	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, N.I.H., Intramural
6	26338434	rs2893842	T	G	rs2893842	20062062	2.10E-05	NA	NA	NA	2,053 European descent cases; 5,140 European descent controls	European(7193)	ALL(7193)	EUR(7193)	ALL(7193)	Ankylosing spondylitis	HPOID:0003306	Spinal rigidity	DOID:7147	ankylosing spondylitis	D013167	Spondylitis, Ankylosing	EFOID:0003898	ankylosing spondylitis	Ankylosing spondylitis	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, N.I.H., Intramural
6	26467182	rs3799380	T	C	rs3799380	20062062	1.20E-06	NA	NA	NA	2,053 European descent cases; 5,140 European descent controls	European(7193)	ALL(7193)	EUR(7193)	ALL(7193)	Ankylosing spondylitis	HPOID:0003306	Spinal rigidity	DOID:7147	ankylosing spondylitis	D013167	Spondylitis, Ankylosing	EFOID:0003898	ankylosing spondylitis	Ankylosing spondylitis	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, N.I.H., Intramural
6	26495099	rs2093169	C	T	rs2093169	20062062	5.50E-06	NA	NA	NA	2,053 European descent cases; 5,140 European descent controls	European(7193)	ALL(7193)	EUR(7193)	ALL(7193)	Ankylosing spondylitis	HPOID:0003306	Spinal rigidity	DOID:7147	ankylosing spondylitis	D013167	Spondylitis, Ankylosing	EFOID:0003898	ankylosing spondylitis	Ankylosing spondylitis	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, N.I.H., Intramural
6	26592707	rs9379895	A	G	rs9379895	20062062	1.20E-07	NA	NA	NA	2,053 European descent cases; 5,140 European descent controls	European(7193)	ALL(7193)	EUR(7193)	ALL(7193)	Ankylosing spondylitis	HPOID:0003306	Spinal rigidity	DOID:7147	ankylosing spondylitis	D013167	Spondylitis, Ankylosing	EFOID:0003898	ankylosing spondylitis	Ankylosing spondylitis	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, N.I.H., Intramural
6	30077967	rs4959041	T	C	rs4959041	21743469	6.50E-13	NA	NA	NA	3,023 European ancestry cases; 8,779 European ancestry controls	European(11802)	ALL(11802)	EUR(11802)	ALL(11802)	Ankylosing spondylitis	HPOID:0003306	Spinal rigidity	DOID:7147	ankylosing spondylitis	D013167	Spondylitis, Ankylosing	EFOID:0003898	ankylosing spondylitis	Ankylosing spondylitis	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, N.I.H., Intramural
6	31182383	rs9468898	A	G	rs9468898	22138694	7.68E-257	NA	NA	NA	1,837 Han Chinese cases; 4,231 Han Chinese controls	Han Chinese(6068)	ALL(6068)	ASN(6068)	ALL(6068)	Ankylosing spondylitis	HPOID:0003306	Spinal rigidity	DOID:7147	ankylosing spondylitis	D013167	Spondylitis, Ankylosing	EFOID:0003898	ankylosing spondylitis	Ankylosing spondylitis	NA	Research Support, Non-U.S. Gov't	A	NA
6	31313101	rs9265882	T	C	rs9265882	22138694	1.23E-50	NA	NA	NA	1,837 Han Chinese cases; 4,231 Han Chinese controls	Han Chinese(6068)	ALL(6068)	ASN(6068)	ALL(6068)	Ankylosing spondylitis	HPOID:0003306	Spinal rigidity	DOID:7147	ankylosing spondylitis	D013167	Spondylitis, Ankylosing	EFOID:0003898	ankylosing spondylitis	Ankylosing spondylitis	NA	Research Support, Non-U.S. Gov't	C	NA
6	31336100	rs7743761	C	A	rs7743761	20062062	5.00E-304	NA	NA	NA	2,053 European descent cases; 5,140 European descent controls	European(7193)	ALL(7193)	EUR(7193)	ALL(7193)	Ankylosing spondylitis	HPOID:0003306	Spinal rigidity	DOID:7147	ankylosing spondylitis	D013167	Spondylitis, Ankylosing	EFOID:0003898	ankylosing spondylitis	Ankylosing spondylitis	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, N.I.H., Intramural
6	31338528	rs9295986	C	T	rs9295986	22138694	3.60E-103	NA	NA	NA	1,837 Han Chinese cases; 4,231 Han Chinese controls	Han Chinese(6068)	ALL(6068)	ASN(6068)	ALL(6068)	Ankylosing spondylitis	HPOID:0003306	Spinal rigidity	DOID:7147	ankylosing spondylitis	D013167	Spondylitis, Ankylosing	EFOID:0003898	ankylosing spondylitis	Ankylosing spondylitis	NA	Research Support, Non-U.S. Gov't	C	NA
6	31340328	rs2523522	T	C	rs2523522	22138694	9.60E-196	NA	NA	NA	1,837 Han Chinese cases; 4,231 Han Chinese controls	Han Chinese(6068)	ALL(6068)	ASN(6068)	ALL(6068)	Ankylosing spondylitis	HPOID:0003306	Spinal rigidity	DOID:7147	ankylosing spondylitis	D013167	Spondylitis, Ankylosing	EFOID:0003898	ankylosing spondylitis	Ankylosing spondylitis	NA	Research Support, Non-U.S. Gov't	NA	NA
6	31342631	rs2254556	T	C	rs2254556	21743469	3.80E-42	NA	NA	NA	3,023 European ancestry cases; 8,779 European ancestry controls	European(11802)	ALL(11802)	EUR(11802)	ALL(11802)	Ankylosing spondylitis	HPOID:0003306	Spinal rigidity	DOID:7147	ankylosing spondylitis	D013167	Spondylitis, Ankylosing	EFOID:0003898	ankylosing spondylitis	Ankylosing spondylitis	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, N.I.H., Intramural
6	31365787	rs4349859	G	A	rs4349859	21743469	1.00E-200	less than	NA	NA	3,023 European ancestry cases; 8,779 European ancestry controls	European(11802)	ALL(11802)	EUR(11802)	ALL(11802)	Ankylosing spondylitis	HPOID:0003306	Spinal rigidity	DOID:7147	ankylosing spondylitis	D013167	Spondylitis, Ankylosing	EFOID:0003898	ankylosing spondylitis	Ankylosing spondylitis	rs4349859-A	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, N.I.H., Intramural
6	31367865	rs2523454	G	A	rs2523454	22138694	3.20E-93	NA	NA	NA	1,837 Han Chinese cases; 4,231 Han Chinese controls	Han Chinese(6068)	ALL(6068)	ASN(6068)	ALL(6068)	Ankylosing spondylitis	HPOID:0003306	Spinal rigidity	DOID:7147	ankylosing spondylitis	D013167	Spondylitis, Ankylosing	EFOID:0003898	ankylosing spondylitis	Ankylosing spondylitis	NA	Research Support, Non-U.S. Gov't	C	MICA
6	31391401	rs4418214	T	C	rs4418214	22138694	6.70E-08	NA	NA	NA	1,837 Han Chinese cases; 4,231 Han Chinese controls	Han Chinese(6068)	ALL(6068)	ASN(6068)	ALL(6068)	Ankylosing spondylitis	HPOID:0003306	Spinal rigidity	DOID:7147	ankylosing spondylitis	D013167	Spondylitis, Ankylosing	EFOID:0003898	ankylosing spondylitis	Ankylosing spondylitis	NA	Research Support, Non-U.S. Gov't	NA	NA
6	31412961	rs2596464	T	C	rs2596464	22138694	5.27E-37	NA	NA	NA	1,837 Han Chinese cases; 4,231 Han Chinese controls	Han Chinese(6068)	ALL(6068)	ASN(6068)	ALL(6068)	Ankylosing spondylitis	HPOID:0003306	Spinal rigidity	DOID:7147	ankylosing spondylitis	D013167	Spondylitis, Ankylosing	EFOID:0003898	ankylosing spondylitis	Ankylosing spondylitis	NA	Research Support, Non-U.S. Gov't	NA	NA
6	41185430	rs1968871	T	C	rs1968871	20062062	6.00E-05	NA	NA	NA	2,053 European descent cases; 5,140 European descent controls	European(7193)	ALL(7193)	EUR(7193)	ALL(7193)	Ankylosing spondylitis	HPOID:0003306	Spinal rigidity	DOID:7147	ankylosing spondylitis	D013167	Spondylitis, Ankylosing	EFOID:0003898	ankylosing spondylitis	Ankylosing spondylitis	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, N.I.H., Intramural
6	109558471	rs6919423	G	A	rs6919423	22138694	1.86E-04	NA	NA	NA	1,837 Han Chinese cases; 4,231 Han Chinese controls	Han Chinese(6068)	ALL(6068)	ASN(6068)	ALL(6068)	Ankylosing spondylitis	HPOID:0003306	Spinal rigidity	DOID:7147	ankylosing spondylitis	D013167	Spondylitis, Ankylosing	EFOID:0003898	ankylosing spondylitis	Ankylosing spondylitis	NA	Research Support, Non-U.S. Gov't	A	C6orf183
6	109598964	rs13210693	G	A	rs13210693	22138694	9.00E-07	NA	1.15	[1.09-1.22]	1,837 Han Chinese cases; 4,231 Han Chinese controls	Han Chinese(6068)	ALL(6068)	ASN(6068)	ALL(6068)	Ankylosing spondylitis	HPOID:0003306	Spinal rigidity	DOID:7147	ankylosing spondylitis	D013167	Spondylitis, Ankylosing	EFOID:0003898	ankylosing spondylitis	Ankylosing spondylitis	rs13210693-A	Research Support, Non-U.S. Gov't	A	NA
9	139051174	rs748751	A	G	rs748751	20062062	1.70E-05	NA	NA	NA	2,053 European descent cases; 5,140 European descent controls	European(7193)	ALL(7193)	EUR(7193)	ALL(7193)	Ankylosing spondylitis	HPOID:0003306	Spinal rigidity	DOID:7147	ankylosing spondylitis	D013167	Spondylitis, Ankylosing	EFOID:0003898	ankylosing spondylitis	Ankylosing spondylitis	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, N.I.H., Intramural
9	139269338	rs10781500	C	T	rs10781500	21743469	1.00E-06	NA	NA	NA	3,023 European ancestry cases; 8,779 European ancestry controls	European(11802)	ALL(11802)	EUR(11802)	ALL(11802)	Ankylosing spondylitis	HPOID:0003306	Spinal rigidity	DOID:7147	ankylosing spondylitis	D013167	Spondylitis, Ankylosing	EFOID:0003898	ankylosing spondylitis	Ankylosing spondylitis	rs10781500-T	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, N.I.H., Intramural
10	19929513	rs1326986	T	C	rs1326986	20062062	4.00E-06	NA	1.9	[1.58-2.29]	2,053 European descent cases; 5,140 European descent controls	European(7193)	ALL(7193)	EUR(7193)	ALL(7193)	Ankylosing spondylitis	HPOID:0003306	Spinal rigidity	DOID:7147	ankylosing spondylitis	D013167	Spondylitis, Ankylosing	EFOID:0003898	ankylosing spondylitis	Ankylosing spondylitis	rs1326986-C	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, N.I.H., Intramural
10	80772541	rs7068603	C	T	rs7068603	22138694	1.12E-05	NA	NA	NA	1,837 Han Chinese cases; 4,231 Han Chinese controls	Han Chinese(6068)	ALL(6068)	ASN(6068)	ALL(6068)	Ankylosing spondylitis	HPOID:0003306	Spinal rigidity	DOID:7147	ankylosing spondylitis	D013167	Spondylitis, Ankylosing	EFOID:0003898	ankylosing spondylitis	Ankylosing spondylitis	NA	Research Support, Non-U.S. Gov't	G	LOC283050
11	123399541	rs2714068	A	G	rs2714068	20062062	2.40E-05	NA	NA	NA	2,053 European descent cases; 5,140 European descent controls	European(7193)	ALL(7193)	EUR(7193)	ALL(7193)	Ankylosing spondylitis	HPOID:0003306	Spinal rigidity	DOID:7147	ankylosing spondylitis	D013167	Spondylitis, Ankylosing	EFOID:0003898	ankylosing spondylitis	Ankylosing spondylitis	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, N.I.H., Intramural
12	6440009	rs1800693	T	C	rs1800693	20062062	2.80E-05	NA	NA	NA	2,053 European descent cases; 5,140 European descent controls	European(7193)	ALL(7193)	EUR(7193)	ALL(7193)	Ankylosing spondylitis	HPOID:0003306	Spinal rigidity	DOID:7147	ankylosing spondylitis	D013167	Spondylitis, Ankylosing	EFOID:0003898	ankylosing spondylitis	Ankylosing spondylitis	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, N.I.H., Intramural
12	6502742	rs11616188	G	A	rs11616188	21743469	4.00E-12	NA	NA	NA	3,023 European ancestry cases; 8,779 European ancestry controls	European(11802)	ALL(11802)	EUR(11802)	ALL(11802)	Ankylosing spondylitis	HPOID:0003306	Spinal rigidity	DOID:7147	ankylosing spondylitis	D013167	Spondylitis, Ankylosing	EFOID:0003898	ankylosing spondylitis	Ankylosing spondylitis	rs11616188-A	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, N.I.H., Intramural
12	45774908	rs17095830	A	G	rs17095830	22138694	2.00E-08	NA	1.29	[1.18-1.41]	1,837 Han Chinese cases; 4,231 Han Chinese controls	Han Chinese(6068)	ALL(6068)	ASN(6068)	ALL(6068)	Ankylosing spondylitis	HPOID:0003306	Spinal rigidity	DOID:7147	ankylosing spondylitis	D013167	Spondylitis, Ankylosing	EFOID:0003898	ankylosing spondylitis	Ankylosing spondylitis	rs17095830-G	Research Support, Non-U.S. Gov't	G	ANO6
13	71325052	rs598351	T	G	rs598351	20062062	9.70E-06	NA	NA	NA	2,053 European descent cases; 5,140 European descent controls	European(7193)	ALL(7193)	EUR(7193)	ALL(7193)	Ankylosing spondylitis	HPOID:0003306	Spinal rigidity	DOID:7147	ankylosing spondylitis	D013167	Spondylitis, Ankylosing	EFOID:0003898	ankylosing spondylitis	Ankylosing spondylitis	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, N.I.H., Intramural
14	33381098	rs12146962	T	C	rs12146962	22138694	9.00E-06	NA	1.14	[1.08-1.20]	1,837 Han Chinese cases; 4,231 Han Chinese controls	Han Chinese(6068)	ALL(6068)	ASN(6068)	ALL(6068)	Ankylosing spondylitis	HPOID:0003306	Spinal rigidity	DOID:7147	ankylosing spondylitis	D013167	Spondylitis, Ankylosing	EFOID:0003898	ankylosing spondylitis	Ankylosing spondylitis	NA	Research Support, Non-U.S. Gov't	C	NA
14	33386759	rs10872871	C	T	rs10872871	22138694	1.07E-05	NA	NA	NA	1,837 Han Chinese cases; 4,231 Han Chinese controls	Han Chinese(6068)	ALL(6068)	ASN(6068)	ALL(6068)	Ankylosing spondylitis	HPOID:0003306	Spinal rigidity	DOID:7147	ankylosing spondylitis	D013167	Spondylitis, Ankylosing	EFOID:0003898	ankylosing spondylitis	Ankylosing spondylitis	NA	Research Support, Non-U.S. Gov't	T	NA
16	83071614	rs11642883	A	G	rs11642883	22138694	1.88E-04	NA	NA	NA	1,837 Han Chinese cases; 4,231 Han Chinese controls	Han Chinese(6068)	ALL(6068)	ASN(6068)	ALL(6068)	Ankylosing spondylitis	HPOID:0003306	Spinal rigidity	DOID:7147	ankylosing spondylitis	D013167	Spondylitis, Ankylosing	EFOID:0003898	ankylosing spondylitis	Ankylosing spondylitis	NA	Research Support, Non-U.S. Gov't	A	CDH13
17	26649724	rs11080055	A	C	rs11080055	22138694	1.11E-04	NA	NA	NA	1,837 Han Chinese cases; 4,231 Han Chinese controls	Han Chinese(6068)	ALL(6068)	ASN(6068)	ALL(6068)	Ankylosing spondylitis	HPOID:0003306	Spinal rigidity	DOID:7147	ankylosing spondylitis	D013167	Spondylitis, Ankylosing	EFOID:0003898	ankylosing spondylitis	Ankylosing spondylitis	NA	Research Support, Non-U.S. Gov't	A	TMEM97
17	26725265	rs2239908	G	A	rs2239908	22138694	6.80E-05	NA	NA	NA	1,837 Han Chinese cases; 4,231 Han Chinese controls	Han Chinese(6068)	ALL(6068)	ASN(6068)	ALL(6068)	Ankylosing spondylitis	HPOID:0003306	Spinal rigidity	DOID:7147	ankylosing spondylitis	D013167	Spondylitis, Ankylosing	EFOID:0003898	ankylosing spondylitis	Ankylosing spondylitis	NA	Research Support, Non-U.S. Gov't	C	SARM1
17	45768836	rs8070463	T	C	rs8070463	21743469	5.00E-08	NA	NA	NA	3,023 European ancestry cases; 8,779 European ancestry controls	European(11802)	ALL(11802)	EUR(11802)	ALL(11802)	Ankylosing spondylitis	HPOID:0003306	Spinal rigidity	DOID:7147	ankylosing spondylitis	D013167	Spondylitis, Ankylosing	EFOID:0003898	ankylosing spondylitis	Ankylosing spondylitis	rs8070463-C	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, N.I.H., Intramural
20	49170157	rs6512654	T	G	rs6512654	22138694	6.30E-05	NA	NA	NA	1,837 Han Chinese cases; 4,231 Han Chinese controls	Han Chinese(6068)	ALL(6068)	ASN(6068)	ALL(6068)	Ankylosing spondylitis	HPOID:0003306	Spinal rigidity	DOID:7147	ankylosing spondylitis	D013167	Spondylitis, Ankylosing	EFOID:0003898	ankylosing spondylitis	Ankylosing spondylitis	NA	Research Support, Non-U.S. Gov't	T	PTPN1
21	40465178	rs2242944	G	A	rs2242944	20062062	8.00E-20	NA	1.39	[1.28-1.49]	2,053 European descent cases; 5,140 European descent controls	European(7193)	ALL(7193)	EUR(7193)	ALL(7193)	Ankylosing spondylitis	HPOID:0003306	Spinal rigidity	DOID:7147	ankylosing spondylitis	D013167	Spondylitis, Ankylosing	EFOID:0003898	ankylosing spondylitis	Ankylosing spondylitis	rs2242944-A	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, N.I.H., Intramural
21	40469520	rs378108	A	G	rs378108	21743469	2.00E-11	NA	NA	NA	3,023 European ancestry cases; 8,779 European ancestry controls	European(11802)	ALL(11802)	EUR(11802)	ALL(11802)	Ankylosing spondylitis	HPOID:0003306	Spinal rigidity	DOID:7147	ankylosing spondylitis	D013167	Spondylitis, Ankylosing	EFOID:0003898	ankylosing spondylitis	Ankylosing spondylitis	rs378108-G	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, N.I.H., Intramural
22	37310046	rs2075726	G	A	rs2075726	22138694	9.00E-06	NA	1.14	[1.07-1.20]	1,837 Han Chinese cases; 4,231 Han Chinese controls	Han Chinese(6068)	ALL(6068)	ASN(6068)	ALL(6068)	Ankylosing spondylitis	HPOID:0003306	Spinal rigidity	DOID:7147	ankylosing spondylitis	D013167	Spondylitis, Ankylosing	EFOID:0003898	ankylosing spondylitis	Ankylosing spondylitis	rs2075726-G	Research Support, Non-U.S. Gov't	G	CSF2RB

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	173
Disease	ankylosing spondylitis
Case	(Waiting for update.)