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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   systemic scleroderma
  

Disease ID 185
Disease systemic scleroderma
Definition
A chronic multi-system disorder of CONNECTIVE TISSUE. It is characterized by SCLEROSIS in the SKIN, the LUNGS, the HEART, the GASTROINTESTINAL TRACT, the KIDNEYS, and the MUSCULOSKELETAL SYSTEM. Other important features include diseased small BLOOD VESSELS and AUTOANTIBODIES. The disorder is named for its most prominent feature (hard skin), and classified into subsets by the extent of skin thickening: LIMITED SCLERODERMA and DIFFUSE SCLERODERMA.
Synonym
diffuse scleroderma
progressive systemic sclerosis
pss
pss (progressive systemic sclerosis)
pss - progressive systemic sclerosis
scleroderma syndrome
scleroderma syndrome (disorder)
scleroderma, diffuse
scleroderma, systemic
scleroderma, systemic [disease/finding]
sclerosis, systemic
ss - systemic sclerosis
ssc, diffuse sclerosis
systemic sclerosis
systemic sclerosis (disorder)
Orphanet
OMIM
DOID
ICD10
UMLS
C0036421
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:162)
C0020538  |  hypertension  |  68
C1619734  |  pulmonary arterial hypertension  |  40
C0024115  |  lung disease  |  37
C0206062  |  interstitial lung disease  |  33
C0020542  |  pulmonary hypertension  |  27
C0034069  |  pulmonary fibrosis  |  12
C0034735  |  raynaud's phenomenon  |  12
C0042373  |  vascular disease  |  11
C0011644  |  scleroderma  |  11
C0006663  |  calcinosis  |  9
C0042384  |  vasculitis  |  8
C0036202  |  sarcoidosis  |  6
C0034069  |  lung fibrosis  |  6
C0003864  |  arthritis  |  5
C0037274  |  skin disease  |  4
C0027121  |  myositis  |  4
C0014858  |  esophageal dysmotility  |  4
C0023890  |  cirrhosis  |  4
C0008312  |  biliary cirrhosis  |  4
C0032285  |  pneumonia  |  4
C0008312  |  primary biliary cirrhosis  |  4
C0267211  |  gastric antral vascular ectasia  |  4
C0034735  |  raynaud phenomenon  |  3
C0024115  |  lung diseases  |  3
C0022658  |  renal disease  |  3
C0242379  |  lung cancer  |  3
C0007222  |  cardiovascular disease  |  3
C1527336  |  sjogren's syndrome  |  3
C0004153  |  atherosclerosis  |  3
C0162429  |  malnutrition  |  3
C0011570  |  depression  |  3
C0010068  |  coronary artery disease  |  3
C0009782  |  connective tissue diseases  |  3
C0009782  |  connective tissue disease  |  3
C0022116  |  ischemia  |  3
C0009319  |  colitis  |  2
C0018801  |  heart failure  |  2
C0039446  |  telangiectasias  |  2
C0155626  |  acute myocardial infarction  |  2
C0007177  |  cardiac tamponade  |  2
C0019158  |  hepatitis  |  2
C0024523  |  malabsorption  |  2
C0040053  |  thrombosis  |  2
C0039446  |  telangiectasia  |  2
C0241910  |  autoimmune hepatitis  |  2
C0027051  |  myocardial infarction  |  2
C0024299  |  lymphoma  |  2
C0027051  |  myocardial infarct  |  2
C0003873  |  rheumatoid arthritis  |  2
C0021053  |  immune disease  |  2
C0037317  |  sleep disturbance  |  2
C0270612  |  leukoencephalopathy  |  2
C0031039  |  pericardial effusion  |  2
C0155765  |  microangiopathy  |  2
C0003467  |  anxiety  |  2
C0149925  |  small cell lung carcinoma  |  1
C0003864  |  inflammatory arthritis  |  1
C0002878  |  haemolytic anaemia  |  1
C0032266  |  pneumatosis cystoides intestinalis  |  1
C0042870  |  vitamin d defic  |  1
C0684249  |  lung carcinoma  |  1
C0349788  |  arrhythmogenic right ventricular dysplasia  |  1
C0812413  |  malignant pleural mesothelioma  |  1
C0024899  |  mastocytosis  |  1
C0021847  |  intestinal pseudoobstruction  |  1
C0007570  |  coeliac disease  |  1
C0678222  |  breast carcinoma  |  1
C0267841  |  acalculous cholecystitis  |  1
C0022408  |  arthropathy  |  1
C1377913  |  pleural mesothelioma  |  1
C0032326  |  pneumothorax  |  1
C0029456  |  osteoporosis  |  1
C0085278  |  antiphospholipid syndrome  |  1
C0008325  |  cholecystitis  |  1
C0032285  |  lung inflammation  |  1
C0022116  |  ischaemia  |  1
C0039446  |  telangiectases  |  1
C0456909  |  vision loss  |  1
C0035258  |  restless legs  |  1
C0035078  |  renal failure  |  1
C0002871  |  anaemia  |  1
C2349952  |  oropharyngeal carcinoma  |  1
C0031039  |  pericardial effusions  |  1
C1704436  |  peripheral arterial diseases  |  1
C0041696  |  major depressive disorder  |  1
C0037317  |  sleep disturbances  |  1
C0020498  |  diffuse idiopathic skeletal hyperostosis  |  1
C0032231  |  pleuritis  |  1
C0152026  |  retinal vasculitis  |  1
C0014858  |  esophageal motility disorders  |  1
C0079774  |  peripheral t cell lymphoma  |  1
C0032285  |  pulmonary inflammation  |  1
C0022658  |  nephropathy  |  1
C0149925  |  small cell carcinoma  |  1
C0206062  |  interstitial lung diseases  |  1
C0034091  |  pulmonary veno-occlusive disease  |  1
C0267211  |  watermelon stomach  |  1
C0276688  |  cryptococcal pneumonia  |  1
C0242350  |  erectile dysfunction  |  1
C1700942  |  idiopathic pulmonary arterial hypertension  |  1
C0021053  |  immune dysfunction  |  1
C0917996  |  cerebral aneurysm  |  1
C0149925  |  small cell carcinoma of lung  |  1
C0026764  |  multiple myeloma  |  1
C0003469  |  anxiety disorder  |  1
C0036421  |  systemic scleroderma  |  1
C0026848  |  myopathy  |  1
C0006384  |  bundle branch block  |  1
C0020626  |  hypoparathyroidism  |  1
C0035258  |  restless legs syndrome (rls)  |  1
C0021847  |  intestinal pseudo-obstruction  |  1
C0014038  |  encephalitis  |  1
C0018802  |  congestive heart failure  |  1
C1704436  |  peripheral arterial disease  |  1
C0010346  |  crohn's disease  |  1
C0852949  |  arterial disease  |  1
C0014848  |  achalasia  |  1
C0040053  |  thrombus  |  1
C0026764  |  myeloma  |  1
C0878544  |  cardiomyopathy  |  1
C0017658  |  glomerulonephritis  |  1
C0034150  |  purpura  |  1
C0021400  |  influenza  |  1
C0242490  |  enthesopathy  |  1
C0003469  |  anxiety disorders  |  1
C0878544  |  myocardial disease  |  1
C0040034  |  thrombocytopenia  |  1
C0014175  |  endometriosis  |  1
C0032027  |  pityriasis rubra pilaris  |  1
C0920350  |  autoimmune thyroiditis  |  1
C0009324  |  ulcerative colitis  |  1
C0740394  |  hyperuricemia  |  1
C0042769  |  virus infection  |  1
C0042870  |  vitamin d deficiency  |  1
C0153500  |  heart ca  |  1
C0014858  |  oesophageal dysmotility  |  1
C0021843  |  intestinal obstruction  |  1
C0034212  |  pyoderma  |  1
C0009447  |  common variable immunodeficiency  |  1
C0035258  |  restless legs syndrome  |  1
C0005940  |  bone disease  |  1
C0085652  |  pyoderma gangrenosum  |  1
C0006142  |  breast cancer  |  1
C0024523  |  malabsorption syndromes  |  1
C0022661  |  chronic renal disease  |  1
C0042164  |  uveitis  |  1
C1333502  |  extragonadal seminoma  |  1
C0007137  |  squamous cell carcinoma  |  1
C0036421  |  systemic sclerosis  |  1
C0149782  |  squamous cell lung cancer  |  1
C0019196  |  hepatitis c  |  1
C0023418  |  leukemia  |  1
C0023895  |  liver disorder  |  1
C0748540  |  limited cutaneous systemic sclerosis  |  1
C0011633  |  dermatomyositis  |  1
C0085615  |  right bundle branch block  |  1
C0027873  |  neuromyelitis optica  |  1
C0036421  |  diffuse scleroderma  |  1
C0238067  |  collagenous colitis  |  1
C0019069  |  haemophilia  |  1
C0036420  |  localized scleroderma  |  1
C0024523  |  malabsorption syndrome  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:28)
221895  |  JAZF1  |  GWASCAT
640  |  BLK  |  GHR
6775  |  STAT4  |  CTD_human;GWASCAT;GHR
26191  |  PTPN22  |  GHR
3122  |  HLA-DRA  |  GWASCAT
219285  |  SAMD9L  |  GWASCAT
3119  |  HLA-DQB1  |  CTD_human
7292  |  TNFSF4  |  GHR
23534  |  TNPO3  |  GWASCAT
3663  |  IRF5  |  CTD_human;GHR
170679  |  PSORS1C1  |  CTD_human;GWASCAT
3115  |  HLA-DPB1  |  GWASCAT
10665  |  C6orf10  |  GWASCAT
170680  |  PSORS1C2  |  GWASCAT
286016  |  TPI1P2  |  GWASCAT
388  |  RHOB  |  CTD_human
3684  |  ITGAM  |  GWASCAT
10318  |  TNIP1  |  CTD_human;GWASCAT
54899  |  PXK  |  GWASCAT
55024  |  BANK1  |  GHR
4855  |  NOTCH4  |  GWASCAT
9474  |  ATG5  |  GWASCAT
6660  |  SOX5  |  GWASCAT
79932  |  KIAA0319L  |  GWASCAT
2887  |  GRB10  |  GWASCAT
23294  |  ANKS1A  |  GWASCAT
3113  |  HLA-DPA1  |  GWASCAT
919  |  CD247  |  CTD_human;GWASCAT
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:74)
3588  |  IL10RB  |  CIPHER
55024  |  BANK1  |  CIPHER
6347  |  CCL2  |  CIPHER
919  |  CD247  |  CIPHER;CTD_human
1306  |  COL15A1  |  CIPHER
1490  |  CTGF  |  CIPHER
2099  |  ESR1  |  CIPHER
2100  |  ESR2  |  CIPHER
355  |  FAS  |  CIPHER
2200  |  FBN1  |  CIPHER
2887  |  GRB10  |  CIPHER
3113  |  HLA-DPA1  |  CIPHER
3115  |  HLA-DPB1  |  CIPHER
3117  |  HLA-DQA1  |  CIPHER
3119  |  HLA-DQB1  |  CIPHER;CTD_human
3122  |  HLA-DRA  |  CIPHER
3123  |  HLA-DRB1  |  CIPHER
3356  |  HTR2A  |  CIPHER
3458  |  IFNG  |  CIPHER
3586  |  IL10  |  CIPHER
3554  |  IL1R1  |  CIPHER
3558  |  IL2  |  CIPHER
149233  |  IL23R  |  CIPHER
3569  |  IL6  |  CIPHER
3663  |  IRF5  |  CIPHER;CTD_human
3394  |  IRF8  |  CIPHER
4855  |  NOTCH4  |  CIPHER
26191  |  PTPN22  |  CIPHER
5788  |  PTPRC  |  CIPHER
6660  |  SOX5  |  CIPHER
6775  |  STAT4  |  CIPHER;CTD_human
23534  |  TNPO3  |  CIPHER
84872  |  ZC3H10  |  CIPHER
199  |  AIF1  |  CIPHER
326  |  AIRE  |  CIPHER
6352  |  CCL5  |  CIPHER
930  |  CD19  |  CIPHER
933  |  CD22  |  CIPHER
942  |  CD86  |  CIPHER
1493  |  CTLA4  |  CIPHER
1535  |  CYBA  |  CIPHER
1906  |  EDN1  |  CIPHER
1909  |  EDNRA  |  CIPHER
1910  |  EDNRB  |  CIPHER
3126  |  HLA-DRB4  |  CIPHER
3127  |  HLA-DRB5  |  CIPHER
3596  |  IL13  |  CIPHER
3598  |  IL13RA2  |  CIPHER
3552  |  IL1A  |  CIPHER
3553  |  IL1B  |  CIPHER
3557  |  IL1RN  |  CIPHER
4049  |  LTA  |  CIPHER
4846  |  NOS3  |  CIPHER
6890  |  TAP1  |  CIPHER
6891  |  TAP2  |  CIPHER
7012  |  TERC  |  CIPHER
7076  |  TIMP1  |  CIPHER
7124  |  TNF  |  CIPHER
7133  |  TNFRSF1B  |  CIPHER
7422  |  VEGFA  |  CIPHER
1636  |  ACE  |  CIPHER
1278  |  COL1A2  |  CIPHER
1557  |  CYP2C19  |  CIPHER
1571  |  CYP2E1  |  CIPHER
2335  |  FN1  |  CIPHER
3116  |  HLA-DPB2  |  CIPHER
4312  |  MMP1  |  CIPHER
5155  |  PDGFB  |  CIPHER
30009  |  TBX21  |  CIPHER
7040  |  TGFB1  |  CIPHER
7292  |  TNFSF4  |  CIPHER
10318  |  TNIP1  |  CIPHER;CTD_human
170679  |  PSORS1C1  |  CTD_human
388  |  RHOB  |  CTD_human
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:278)
441376  |  AARD  |  1.71  |  DISEASES
25  |  ABL1  |  2.101  |  DISEASES
93  |  ACVR2B  |  1.047  |  DISEASES
94  |  ACVRL1  |  3.805  |  DISEASES
8038  |  ADAM12  |  1.426  |  DISEASES
101  |  ADAM8  |  1.141  |  DISEASES
11093  |  ADAMTS13  |  1.025  |  DISEASES
55803  |  ADAP2  |  1.33  |  DISEASES
199  |  AIF1  |  1.914  |  DISEASES
9447  |  AIM2  |  1.776  |  DISEASES
27329  |  ANGPTL3  |  1.19  |  DISEASES
9138  |  ARHGEF1  |  2.68  |  DISEASES
9138  |  ARHGEF1  |  1.403  |  DISEASES
136371  |  ASB10  |  1.137  |  DISEASES
51374  |  ATRAID  |  3.149  |  DISEASES
51374  |  ATRAID  |  2.123  |  DISEASES
55024  |  BANK1  |  3.827  |  DISEASES
55024  |  BANK1  |  2.547  |  DISEASES
659  |  BMPR2  |  1.889  |  DISEASES
720  |  C4A  |  2.355  |  DISEASES
720  |  C4A  |  2.089  |  DISEASES
721  |  C4B  |  1.075  |  DISEASES
721  |  C4B  |  1.028  |  DISEASES
813  |  CALU  |  1.55  |  DISEASES
834  |  CASP1  |  1.254  |  DISEASES
831  |  CAST  |  1.256  |  DISEASES
857  |  CAV1  |  2.474  |  DISEASES
339965  |  CCDC158  |  1.893  |  DISEASES
6354  |  CCL7  |  1.863  |  DISEASES
9332  |  CD163  |  2.38  |  DISEASES
930  |  CD19  |  3.435  |  DISEASES
911  |  CD1C  |  1.418  |  DISEASES
919  |  CD247  |  2.865  |  DISEASES
958  |  CD40  |  2.27  |  DISEASES
959  |  CD40LG  |  4.078  |  DISEASES
960  |  CD44  |  1.047  |  DISEASES
965  |  CD58  |  1.242  |  DISEASES
942  |  CD86  |  1.619  |  DISEASES
1003  |  CDH5  |  2.626  |  DISEASES
53841  |  CDHR5  |  1.437  |  DISEASES
1041  |  CDSN  |  3.764  |  DISEASES
1058  |  CENPA  |  4.854  |  DISEASES
1058  |  CENPA  |  2.159  |  DISEASES
1059  |  CENPB  |  5.473  |  DISEASES
1059  |  CENPB  |  2.99  |  DISEASES
1063  |  CENPF  |  1.752  |  DISEASES
2491  |  CENPI  |  1.636  |  DISEASES
401541  |  CENPP  |  2.125  |  DISEASES
55166  |  CENPQ  |  1.991  |  DISEASES
1305  |  COL13A1  |  1.284  |  DISEASES
80781  |  COL18A1  |  3.078  |  DISEASES
91522  |  COL23A1  |  2.037  |  DISEASES
1290  |  COL5A2  |  1.362  |  DISEASES
1438  |  CSF2RA  |  1.005  |  DISEASES
1490  |  CTGF  |  5.198  |  DISEASES
1490  |  CTGF  |  2.388  |  DISEASES
1499  |  CTNNB1  |  1.582  |  DISEASES
6387  |  CXCL12  |  1.832  |  DISEASES
4283  |  CXCL9  |  1.268  |  DISEASES
2833  |  CXCR3  |  2.214  |  DISEASES
7852  |  CXCR4  |  1.712  |  DISEASES
9266  |  CYTH2  |  1.492  |  DISEASES
168002  |  DACT2  |  1.085  |  DISEASES
51428  |  DDX41  |  3.023  |  DISEASES
1786  |  DNMT1  |  1.143  |  DISEASES
1906  |  EDN1  |  5.06  |  DISEASES
1906  |  EDN1  |  2.336  |  DISEASES
1907  |  EDN2  |  1.698  |  DISEASES
1908  |  EDN3  |  1.253  |  DISEASES
1908  |  EDN3  |  1.184  |  DISEASES
1910  |  EDNRB  |  2.833  |  DISEASES
163126  |  EID2  |  1.216  |  DISEASES
54898  |  ELOVL2  |  1.652  |  DISEASES
2022  |  ENG  |  2.773  |  DISEASES
3266  |  ERAS  |  1.72  |  DISEASES
5394  |  EXOSC10  |  5.524  |  DISEASES
5394  |  EXOSC10  |  4.174  |  DISEASES
5393  |  EXOSC9  |  3.598  |  DISEASES
7430  |  EZR  |  1.032  |  DISEASES
2149  |  F2R  |  1.438  |  DISEASES
2149  |  F2R  |  1.369  |  DISEASES
2152  |  F3  |  1.507  |  DISEASES
355  |  FAS  |  2.53  |  DISEASES
85302  |  FBF1  |  1.419  |  DISEASES
2200  |  FBN1  |  4.431  |  DISEASES
2200  |  FBN1  |  1.131  |  DISEASES
2213  |  FCGR2B  |  1.673  |  DISEASES
2214  |  FCGR3A  |  2.491  |  DISEASES
2313  |  FLI1  |  2.727  |  DISEASES
2335  |  FN1  |  1.337  |  DISEASES
2301  |  FOXE3  |  1.709  |  DISEASES
50943  |  FOXP3  |  2.729  |  DISEASES
2359  |  FPR3  |  1.242  |  DISEASES
2512  |  FTL  |  1.071  |  DISEASES
2535  |  FZD2  |  1.268  |  DISEASES
2591  |  GALNT3  |  3.129  |  DISEASES
26130  |  GAPVD1  |  2.046  |  DISEASES
28964  |  GIT1  |  1.716  |  DISEASES
9815  |  GIT2  |  4.661  |  DISEASES
2887  |  GRB10  |  1.137  |  DISEASES
2993  |  GYPA  |  1.353  |  DISEASES
145864  |  HAPLN3  |  1.579  |  DISEASES
3039  |  HBA1  |  2.407  |  DISEASES
3055  |  HCK  |  1.718  |  DISEASES
283450  |  HECTD4  |  1.561  |  DISEASES
8337  |  HIST2H2AA3  |  1.511  |  DISEASES
8338  |  HIST2H2AC  |  1.511  |  DISEASES
8349  |  HIST2H2BE  |  1.237  |  DISEASES
3105  |  HLA-A  |  2.006  |  DISEASES
3105  |  HLA-A  |  1.401  |  DISEASES
3109  |  HLA-DMB  |  2.015  |  DISEASES
3113  |  HLA-DPA1  |  1.363  |  DISEASES
3115  |  HLA-DPB1  |  3.16  |  DISEASES
3115  |  HLA-DPB1  |  1.367  |  DISEASES
3117  |  HLA-DQA1  |  2.191  |  DISEASES
3117  |  HLA-DQA1  |  1.32  |  DISEASES
3118  |  HLA-DQA2  |  1.556  |  DISEASES
3119  |  HLA-DQB1  |  3.213  |  DISEASES
3119  |  HLA-DQB1  |  1.028  |  DISEASES
3120  |  HLA-DQB2  |  3.179  |  DISEASES
3120  |  HLA-DQB2  |  1.141  |  DISEASES
3123  |  HLA-DRB1  |  3.032  |  DISEASES
3127  |  HLA-DRB5  |  1.704  |  DISEASES
3181  |  HNRNPA2B1  |  1.398  |  DISEASES
3240  |  HP  |  1.682  |  DISEASES
3274  |  HRH2  |  1.476  |  DISEASES
51182  |  HSPA14  |  1.008  |  DISEASES
3329  |  HSPD1  |  1.041  |  DISEASES
3339  |  HSPG2  |  4.07  |  DISEASES
3339  |  HSPG2  |  1.081  |  DISEASES
3363  |  HTR7  |  1.504  |  DISEASES
3384  |  ICAM2  |  1.435  |  DISEASES
23308  |  ICOSLG  |  1.249  |  DISEASES
3428  |  IFI16  |  2.237  |  DISEASES
10561  |  IFI44  |  1.931  |  DISEASES
3456  |  IFNB1  |  1.144  |  DISEASES
3486  |  IGFBP3  |  1.049  |  DISEASES
3586  |  IL10  |  2.983  |  DISEASES
3597  |  IL13RA1  |  2.689  |  DISEASES
3605  |  IL17A  |  3.265  |  DISEASES
23765  |  IL17RA  |  1.113  |  DISEASES
50615  |  IL21R  |  1.739  |  DISEASES
3559  |  IL2RA  |  1.359  |  DISEASES
90865  |  IL33  |  2.429  |  DISEASES
3654  |  IRAK1  |  1.995  |  DISEASES
3663  |  IRF5  |  4.015  |  DISEASES
3665  |  IRF7  |  1.521  |  DISEASES
3676  |  ITGA4  |  1.804  |  DISEASES
3683  |  ITGAL  |  1.858  |  DISEASES
3684  |  ITGAM  |  1.51  |  DISEASES
3702  |  ITK  |  1.129  |  DISEASES
3725  |  JUN  |  1.599  |  DISEASES
102723508  |  KANTR  |  1.929  |  DISEASES
3803  |  KIR2DL2  |  1.458  |  DISEASES
688  |  KLF5  |  2.094  |  DISEASES
59349  |  KLHL12  |  1.588  |  DISEASES
55975  |  KLHL7  |  1.052  |  DISEASES
1902  |  LPAR1  |  2.13  |  DISEASES
151827  |  LRRC34  |  2.464  |  DISEASES
5599  |  MAPK8  |  1.253  |  DISEASES
79104  |  MEG8  |  1.227  |  DISEASES
4295  |  MLN  |  2.319  |  DISEASES
4312  |  MMP1  |  3.788  |  DISEASES
4312  |  MMP1  |  1.194  |  DISEASES
4318  |  MMP9  |  1.853  |  DISEASES
4332  |  MNDA  |  2.591  |  DISEASES
4332  |  MNDA  |  1.565  |  DISEASES
23515  |  MORC3  |  1.804  |  DISEASES
51338  |  MS4A4A  |  1.186  |  DISEASES
4478  |  MSN  |  1.371  |  DISEASES
51734  |  MSRB1  |  1.093  |  DISEASES
4582  |  MUC1  |  3.273  |  DISEASES
727897  |  MUC5B  |  1.38  |  DISEASES
4599  |  MX1  |  1.654  |  DISEASES
4602  |  MYB  |  1.752  |  DISEASES
4602  |  MYB  |  1.305  |  DISEASES
4803  |  NGF  |  1.18  |  DISEASES
22861  |  NLRP1  |  1.419  |  DISEASES
4843  |  NOS2  |  1.306  |  DISEASES
4879  |  NPPB  |  2.156  |  DISEASES
594857  |  NPS  |  1.358  |  DISEASES
11164  |  NUDT5  |  1.922  |  DISEASES
4948  |  OCA2  |  1.323  |  DISEASES
8654  |  PDE5A  |  2.308  |  DISEASES
5154  |  PDGFA  |  1.093  |  DISEASES
5155  |  PDGFB  |  1.88  |  DISEASES
5228  |  PGF  |  1.322  |  DISEASES
79837  |  PIP4K2C  |  1.267  |  DISEASES
5329  |  PLAUR  |  2.652  |  DISEASES
23228  |  PLCL2  |  1.721  |  DISEASES
122618  |  PLD4  |  2.643  |  DISEASES
10623  |  POLR3C  |  2.2  |  DISEASES
10631  |  POSTN  |  1.12  |  DISEASES
8842  |  PROM1  |  2.001  |  DISEASES
23362  |  PSD3  |  2.214  |  DISEASES
11168  |  PSIP1  |  1.966  |  DISEASES
26191  |  PTPN22  |  2.849  |  DISEASES
5788  |  PTPRC  |  2.797  |  DISEASES
54899  |  PXK  |  2.915  |  DISEASES
149628  |  PYHIN1  |  3.427  |  DISEASES
149628  |  PYHIN1  |  2.401  |  DISEASES
5697  |  PYY  |  1.215  |  DISEASES
5867  |  RAB4A  |  1.237  |  DISEASES
55544  |  RBM38  |  1.122  |  DISEASES
55819  |  RNF130  |  1.107  |  DISEASES
6134  |  RPL10  |  1.958  |  DISEASES
9045  |  RPL14  |  1.206  |  DISEASES
6168  |  RPL37A  |  1.239  |  DISEASES
6129  |  RPL7  |  2.602  |  DISEASES
6130  |  RPL7A  |  1.194  |  DISEASES
10556  |  RPP30  |  2.647  |  DISEASES
10557  |  RPP38  |  3.619  |  DISEASES
10799  |  RPP40  |  2.349  |  DISEASES
23076  |  RRP1B  |  1.281  |  DISEASES
6275  |  S100A4  |  1.286  |  DISEASES
6278  |  S100A7  |  2.121  |  DISEASES
6278  |  S100A7  |  1.25  |  DISEASES
154075  |  SAMD3  |  1.898  |  DISEASES
1757  |  SARDH  |  2.599  |  DISEASES
29970  |  SCHIP1  |  2.281  |  DISEASES
6385  |  SDC4  |  1.924  |  DISEASES
6401  |  SELE  |  3.751  |  DISEASES
6401  |  SELE  |  2.009  |  DISEASES
462  |  SERPINC1  |  1.29  |  DISEASES
5345  |  SERPINF2  |  1.023  |  DISEASES
6441  |  SFTPD  |  3.401  |  DISEASES
6614  |  SIGLEC1  |  1.69  |  DISEASES
89790  |  SIGLEC10  |  1.402  |  DISEASES
6559  |  SLC12A3  |  1.243  |  DISEASES
4088  |  SMAD3  |  3.789  |  DISEASES
4089  |  SMAD4  |  1.021  |  DISEASES
692084  |  SNORD13  |  1.054  |  DISEASES
9304  |  SNORD22  |  1.381  |  DISEASES
6625  |  SNRNP70  |  5.419  |  DISEASES
6625  |  SNRNP70  |  3.09  |  DISEASES
6660  |  SOX5  |  1.276  |  DISEASES
6667  |  SP1  |  1.079  |  DISEASES
6672  |  SP100  |  1.731  |  DISEASES
6696  |  SPP1  |  1.443  |  DISEASES
162540  |  SPPL2C  |  1.94  |  DISEASES
6714  |  SRC  |  1.609  |  DISEASES
6775  |  STAT4  |  3.819  |  DISEASES
29091  |  STXBP6  |  1.478  |  DISEASES
6863  |  TAC1  |  1.496  |  DISEASES
6949  |  TCOF1  |  1.267  |  DISEASES
7010  |  TEK  |  1.167  |  DISEASES
7042  |  TGFB2  |  2.731  |  DISEASES
7046  |  TGFBR1  |  3.259  |  DISEASES
7046  |  TGFBR1  |  1.388  |  DISEASES
7048  |  TGFBR2  |  1.636  |  DISEASES
7056  |  THBD  |  2.707  |  DISEASES
7056  |  THBD  |  1.669  |  DISEASES
7099  |  TLR4  |  2.056  |  DISEASES
51284  |  TLR7  |  1.555  |  DISEASES
7124  |  TNF  |  3.645  |  DISEASES
8784  |  TNFRSF18  |  1.116  |  DISEASES
7133  |  TNFRSF1B  |  1.564  |  DISEASES
8718  |  TNFRSF25  |  3.324  |  DISEASES
8718  |  TNFRSF25  |  2.602  |  DISEASES
8742  |  TNFSF12  |  1.466  |  DISEASES
10673  |  TNFSF13B  |  2.806  |  DISEASES
7139  |  TNNT2  |  1.04  |  DISEASES
7150  |  TOP1  |  6.291  |  DISEASES
7150  |  TOP1  |  4.706  |  DISEASES
11277  |  TREX1  |  1.394  |  DISEASES
6738  |  TROVE2  |  3.456  |  DISEASES
9383  |  TSIX  |  1.996  |  DISEASES
85480  |  TSLP  |  1.3  |  DISEASES
7106  |  TSPAN4  |  2.285  |  DISEASES
83942  |  TSSK1B  |  5.378  |  DISEASES
7422  |  VEGFA  |  3.444  |  DISEASES
7432  |  VIP  |  1.033  |  DISEASES
7485  |  WRB  |  1.513  |  DISEASES
7518  |  XRCC4  |  1.43  |  DISEASES
57621  |  ZBTB2  |  1.867  |  DISEASES
79842  |  ZBTB3  |  2.133  |  DISEASES
10269  |  ZMPSTE24  |  1.119  |  DISEASES
7580  |  ZNF32  |  1.887  |  DISEASES
Locus(Waiting for update.)
Disease ID 185
Disease systemic scleroderma
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:132)
HP:0000822  |  Hypertension  |  71
HP:0006530  |  Interstitial lung disease  |  36
HP:0002092  |  Pulmonary artery hypertension  |  31
HP:0030880  |  Raynaud phenomenon  |  16
HP:0002206  |  Pulmonary fibrosis  |  13
HP:0100324  |  Progressive systemic scleroderma  |  12
HP:0003761  |  Calcinosis  |  9
HP:0002633  |  Vasculitis  |  7
HP:0001369  |  Arthritis  |  5
HP:0002597  |  Abnormality of blood vessels  |  4
HP:0002090  |  Pneumonia  |  4
HP:0100614  |  Muscle inflammation  |  4
HP:0030731  |  Carcinoma  |  3
HP:0001394  |  Hepatic cirrhosis  |  3
HP:0002613  |  Biliary cirrhosis  |  3
HP:0001009  |  Telangiectases  |  3
HP:0000716  |  Depression  |  3
HP:0004395  |  Malnutrition  |  3
HP:0002621  |  Atherosclerosis  |  3
HP:0001677  |  Coronary artery disease  |  3
HP:0002960  |  Autoimmune condition  |  3
HP:0002665  |  Lymphoma  |  2
HP:0012378  |  Fatigue  |  2
HP:0001658  |  Myocardial infarction  |  2
HP:0002901  |  Hypocalcemia  |  2
HP:0002352  |  Leukoencephalopathy  |  2
HP:0002360  |  Sleep disturbance  |  2
HP:0000989  |  pruritis  |  2
HP:0001751  |  Vestibular dysfunction  |  2
HP:0012115  |  Liver inflammation  |  2
HP:0000739  |  Anxiety  |  2
HP:0004308  |  Ventricular arrhythmia  |  2
HP:0001698  |  Pericardial effusions  |  2
HP:0002716  |  Lymph node hyperplasia  |  2
HP:0002024  |  Intestinal malabsorption  |  2
HP:0002583  |  Colitis  |  2
HP:0001370  |  Rheumatoid arthritis  |  2
HP:0001635  |  Congestive heart failure  |  2
HP:0003002  |  Breast carcinoma  |  2
HP:0011675  |  Arrhythmias  |  2
HP:0006859  |  Posterior leukoencephalopathy  |  2
HP:0002383  |  Encephalitis  |  1
HP:0001298  |  Encephalopathy  |  1
HP:0002571  |  Achalasia  |  1
HP:0012452  |  Restless legs  |  1
HP:0001919  |  Acute renal failure  |  1
HP:0000939  |  Osteoporosis  |  1
HP:0002754  |  Bone infection  |  1
HP:0012074  |  Adie pupil  |  1
HP:0004420  |  Arterial thrombosis  |  1
HP:0100543  |  Cognitive deficits  |  1
HP:0002149  |  Hyperuricemia  |  1
HP:0011096  |  Demyelination  |  1
HP:0000820  |  Thyroid abnormality  |  1
HP:0001638  |  Cardiomyopathy  |  1
HP:0001909  |  Leukemia  |  1
HP:0100002  |  Pleural mesothelioma  |  1
HP:0001541  |  Ascites  |  1
HP:0002860  |  Squamous cell carcinoma  |  1
HP:0030127  |  Endometriosis  |  1
HP:0100495  |  Mastocytosis  |  1
HP:0002829  |  Arthralgias  |  1
HP:0010766  |  Ectopic calcification  |  1
HP:0003198  |  Myopathic changes  |  1
HP:0001342  |  Intracerebral hemorrhage  |  1
HP:0002617  |  Aneurysmal dilatation  |  1
HP:0002107  |  Collapsed lung  |  1
HP:0001873  |  Low platelet count  |  1
HP:0000083  |  Renal insufficiency  |  1
HP:0001279  |  Syncope  |  1
HP:0200042  |  Skin ulcer  |  1
HP:0006775  |  Multiple myeloma  |  1
HP:0001685  |  Myocardial fibrosis  |  1
HP:0100279  |  Ulcerative colitis  |  1
HP:0007588  |  Reticulate hyperpigmentation  |  1
HP:0003040  |  Arthropathy  |  1
HP:0012473  |  Wasting of the tongue  |  1
HP:0002015  |  Swallowing difficulty  |  1
HP:0000554  |  Uveitis  |  1
HP:0000802  |  Erectile dysfunction  |  1
HP:0100280  |  Morbus Crohn  |  1
HP:0011838  |  Sclerodactyly  |  1
HP:0007380  |  Facial telangiectatic vessels  |  1
HP:0012850  |  Small intestinal dysmotility  |  1
HP:0002020  |  Heartburn  |  1
HP:0002063  |  Muscle rigidity  |  1
HP:0001880  |  Eosinophilia  |  1
HP:0002105  |  Hemoptysis  |  1
HP:0000938  |  Decreased bone mineral density  |  1
HP:0000099  |  Glomerular nephritis  |  1
HP:0001903  |  Anemia  |  1
HP:0002140  |  Ischemic stroke  |  1
HP:0011710  |  Bundle-branch block  |  1
HP:0001250  |  Seizures  |  1
HP:0002625  |  Blood clot in a deep vein  |  1
HP:0030159  |  Cervical polyp  |  1
HP:0002664  |  Neoplasia  |  1
HP:0030357  |  Small cell lung carcinoma  |  1
HP:0100512  |  Vitamin D deficiency  |  1
HP:0001695  |  Cardiac arrest  |  1
HP:0004389  |  Intestinal pseudo-obstruction  |  1
HP:0001297  |  Cerebral vascular events  |  1
HP:0002579  |  Gastrointestinal dysmotility  |  1
HP:0002797  |  Increased bone resorption  |  1
HP:0002955  |  Granulomatosis  |  1
HP:0001878  |  Haemolytic anaemia  |  1
HP:0007618  |  Subcutaneous calcification  |  1
HP:0000572  |  Visual loss  |  1
HP:0005214  |  Bowel obstruction  |  1
HP:0004890  |  Elevated pulmonary artery pressure  |  1
HP:0002202  |  Pleural effusion  |  1
HP:0002459  |  Dysautonomia  |  1
HP:0000160  |  Small mouth  |  1
HP:0000979  |  Purpura  |  1
HP:0012531  |  Pain  |  1
HP:0002958  |  Immune dysregulation  |  1
HP:0004936  |  Blood clot in vein  |  1
HP:0001649  |  Tachycardia  |  1
HP:0008064  |  Ichthyosis  |  1
HP:0000112  |  Nephropathy  |  1
HP:0002102  |  Pleuritis  |  1
HP:0004944  |  Cerebral artery aneurysm  |  1
HP:0011712  |  Right bundle-branch block  |  1
HP:0004756  |  Ventricular tachycardia  |  1
HP:0001708  |  Impaired right ventricular function  |  1
HP:0004950  |  Peripheral artery disease  |  1
HP:0100537  |  Inflammation of the fascia  |  1
HP:0001627  |  Congenital heart defects  |  1
HP:0000999  |  Pyoderma  |  1
HP:0001082  |  Cholecystitis  |  1
HP:0000829  |  Hypoparathyroidism  |  1
HP:0100644  |  Melanonychia  |  1
Disease ID 185
Disease systemic scleroderma
Manually Symptom
UMLS  | Name(Total Manually Symptoms:51)
C1963220  |  pulmonary hypertension
C1963198  |  pancreatitis
C1963138  |  hypertension
C1956391  |  temporal arteritis
C1879286  |  bundle branch block
C1619734  |  pulmonary arterial hypertension
C1555769  |  pulmonary disease
C1510420  |  cavities
C1402315  |  vascular lesions
C1400513  |  transmural myocardial infarction
C1393529  |  vascular complications
C1335437  |  plexopathy
C1282916  |  secondary raynaud's phenomenon
C1000483  |  anemia
C0947912  |  myasthenia
C0878544  |  cardiomyopathy
C0748159  |  pulmonary involvement
C0728936  |  circulatory disorders
C0702102  |  arthritis mutilans
C0545044  |  acrokeratoelastoidosis
C0410000  |  overlap syndrome
C0267073  |  dysphagia lusoria
C0263628  |  tumoral calcinosis
C0206676  |  pulmonary adenomatosis
C0162835  |  depigmentation
C0155339  |  brown syndrome
C0152025  |  polyneuropathy
C0151517  |  complete atrioventricular block
C0042373  |  vascular disorders
C0041296  |  tuberculosis
C0038358  |  gastric ulcers
C0037284  |  skin lesions
C0037284  |  skin lesion
C0034735  |  raynaud's syndrome
C0034735  |  raynaud's phenomenon
C0034734  |  raynaud's disease
C0034069  |  pulmonary fibrosis
C0030270  |  pancarditis
C0027765  |  neurological disorders
C0024633  |  mallory-weiss syndrome
C0024115  |  lung disease
C0023223  |  lower extremity ulcer
C0022658  |  nephropathy
C0022658  |  kidney diseases
C0022408  |  arthropathy
C0018799  |  heart disease
C0017675  |  glossitis
C0015458  |  facial hemiatrophy
C0015397  |  eye diseases
C0014306  |  enophthalmos
C0006663  |  calcinosis
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:90)
C0020538  |  hypertension  |  70
C1619734  |  pulmonary arterial hypertension  |  42
C0024115  |  lung disease  |  39
C0206062  |  interstitial lung disease  |  36
C0020542  |  pulmonary hypertension  |  27
C0034735  |  raynaud's phenomenon  |  13
C0034069  |  pulmonary fibrosis  |  13
C0042373  |  vascular disease  |  11
C0011644  |  scleroderma  |  11
C0006663  |  calcinosis  |  9
C0042384  |  vasculitis  |  7
C0036202  |  sarcoidosis  |  6
C0206061  |  interstitial pneumonia  |  6
C0748159  |  pulmonary involvement  |  6
C0034069  |  lung fibrosis  |  5
C0003864  |  arthritis  |  5
C0037284  |  skin lesions  |  4
C0267211  |  gastric antral vascular ectasia  |  4
C0086132  |  depressive symptoms  |  4
C0037274  |  skin disease  |  3
C0009450  |  infection  |  3
C0014858  |  esophageal dysmotility  |  3
C0410000  |  overlap syndrome  |  3
C1262147  |  scleroderma renal crisis  |  3
C0008312  |  primary biliary cirrhosis  |  3
C0022116  |  ischemia  |  3
C0004153  |  atherosclerosis  |  3
C0242379  |  lung cancer  |  3
C0011570  |  depression  |  3
C0007222  |  cardiovascular disease  |  3
C0027121  |  myositis  |  3
C0034735  |  raynaud phenomenon  |  3
C1282916  |  secondary raynaud's phenomenon  |  2
C1393529  |  vascular complications  |  2
C0919725  |  digital necrosis  |  2
C0032320  |  pneumoperitoneum  |  2
C0263628  |  tumoral calcinosis  |  2
C0024299  |  lymphoma  |  2
C0003467  |  anxiety  |  2
C0024523  |  malabsorption  |  2
C0042396  |  vasospasm  |  2
C0040053  |  thrombosis  |  2
C0004364  |  autoimmune diseases  |  2
C0007177  |  cardiac tamponade  |  2
C0856169  |  endothelial dysfunction  |  2
C0039446  |  telangiectasias  |  2
C0015672  |  fatigue  |  2
C0033774  |  pruritus  |  2
C0022658  |  renal disease  |  2
C0155626  |  acute myocardial infarction  |  2
C0150988  |  acrosclerosis  |  1
C0341697  |  renal impairment  |  1
C0020626  |  hypoparathyroidism  |  1
C0035078  |  renal failure  |  1
C0242350  |  erectile dysfunction  |  1
C0032266  |  pneumatosis cystoides intestinalis  |  1
C0007570  |  coeliac disease  |  1
C0034091  |  pulmonary veno-occlusive disease  |  1
C0015732  |  faecal incontinence  |  1
C0857305  |  thrombocytopenia purpura  |  1
C0238067  |  collagenous colitis  |  1
C0679407  |  gastrointestinal dysfunction  |  1
C0014852  |  esophageal dysfunction  |  1
C0151942  |  arterial thrombosis  |  1
C0022408  |  arthropathy  |  1
C0021053  |  immune dysfunction  |  1
C0014457  |  eosinophilia  |  1
C0003469  |  anxiety disorders  |  1
C0267211  |  watermelon stomach  |  1
C0920350  |  autoimmune thyroiditis  |  1
C0267842  |  acute acalculous cholecystitis  |  1
C0017658  |  glomerulonephritis  |  1
C0085278  |  antiphospholipid syndrome  |  1
C0231303  |  distress  |  1
C0427008  |  stiffness  |  1
C0270612  |  leukoencephalopathy  |  1
C0086132  |  symptoms of depression  |  1
C0021847  |  intestinal pseudoobstruction  |  1
C0032285  |  pulmonary inflammation  |  1
C0006664  |  calcinosis cutis  |  1
C0009324  |  ulcerative colitis  |  1
C0558921  |  rectal symptoms  |  1
C0026848  |  myopathy  |  1
C0030193  |  pain  |  1
C0039231  |  tachycardia  |  1
C0155765  |  microangiopathy  |  1
C1562095  |  right ventricular systolic dysfunction  |  1
C0022116  |  ischaemia  |  1
C0037299  |  skin ulcers  |  1
C0039446  |  telangiectases  |  1
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:120)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs100367482269493010318TNIP1umls:C0036421BeFreeThe T allele of rs10036748 in the TNIP1 gene is the minor protective allele for asthma but the minor or major risk allele for systemic lupus erythematosus and systemic sclerosis in non-Hispanic white or Chinese subjects, respectively.0.2408143262012TNIP15151078585CT
rs104886312175067923534TNPO3umls:C0036421GWASCATGenome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis.0.1273725382011TNPO37128954129TC
rs10488631203831473663IRF5umls:C0036421GAD[Additionally, we confirm and firmly establish the role of the MHC (P = 2.31 x 10(-18)), IRF5 (P = 1.86 x 10(-13)) and STAT4 (P = 3.37 x 10(-9)) gene regions as SSc genetic risk factors.]0.143093762010TNPO37128954129TC
rs10488631217791813663IRF5umls:C0036421GAD[Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.]0.143093762011TNPO37128954129TC
rs10488631224408206775STAT4umls:C0036421BeFreeFive single nucleotide polymorphisms, IRF5 (rs10488631, rs12537284, rs4728142), STAT4 (rs3821236), CD247 (rs2056626) reached genome-wide significance in the SSc-GWAS and were examined in the current study.0.2571880522012TNPO37128954129TC
rs104886312038314723534TNPO3umls:C0036421GWASCATGenome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus.0.1273725382010TNPO37128954129TC
rs104886312177918123534TNPO3umls:C0036421GAD[Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.]0.1273725382011TNPO37128954129TC
rs104886312038314723534TNPO3umls:C0036421GAD[Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus.]0.1273725382010TNPO37128954129TC
rs104886312177918123534TNPO3umls:C0036421GWASCATIdentification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.0.1273725382011TNPO37128954129TC
rs1048863122440820919CD247umls:C0036421BeFreeFive single nucleotide polymorphisms, IRF5 (rs10488631, rs12537284, rs4728142), STAT4 (rs3821236), CD247 (rs2056626) reached genome-wide significance in the SSc-GWAS and were examined in the current study.0.245548392012TNPO37128954129TC
rs105164871987705955024BANK1umls:C0036421BeFreeTo determine whether the functional BANK1 variants rs3733197 and rs10516487 are associated with systemic sclerosis (SSc) in 2 European Caucasian populations and to investigate the putative gene-gene interactions between BANK1 and IRF5 as well as STAT4.0.0037242412009BANK14101829919GT,A
rs10516487198770596775STAT4umls:C0036421BeFreeTo determine whether the functional BANK1 variants rs3733197 and rs10516487 are associated with systemic sclerosis (SSc) in 2 European Caucasian populations and to investigate the putative gene-gene interactions between BANK1 and IRF5 as well as STAT4.0.2571880522009BANK14101829919GT,A
rs10516487198770593663IRF5umls:C0036421BeFreeTo determine whether the functional BANK1 variants rs3733197 and rs10516487 are associated with systemic sclerosis (SSc) in 2 European Caucasian populations and to investigate the putative gene-gene interactions between BANK1 and IRF5 as well as STAT4.0.143093762009BANK14101829919GT,A
rs1059702234441933654IRAK1umls:C0036421BeFreeOn the other hand, IRAK1 rs1059702 was consistently associated with presence of pulmonary fibrosis (PF), because statistical significance was observed when comparing SSc patients PF+ versus controls (PFDR=0.039, OR=1.30, 95% CI 1.07 to 1.58) and SSc patients PF+ versus SSc patients PF- (p=0.025, OR=1.26, 95% CI 1.03 to 1.55).0.0005428842014IRAK1X154018741AG
rs1094621623983073128367OR10X1umls:C0036421BeFreeCombined analyses revealed an association between the rs10946216 SNP and SSc susceptibility (odds ratio [OR] 1.13, 95% confidence interval [95% CI] 1.05-1.21, adjusted P [P(adj)] = 0.026).0.0002714422013CCR66167125409TC
rs11047102217791816660SOX5umls:C0036421GAD[We have identified three new non-HLA genes (IRF8, GRB10, and SOX5) associated with SSc clinical and auto-antibody subgroups.]0.1226384742011SOX51223793212CT
rs11047102217791816660SOX5umls:C0036421GWASCATWe have identified three new non-HLA genes (IRF8, GRB10, and SOX5) associated with SSc clinical and auto-antibody subgroups.0.1226384742011SOX51223793212CT
rs111717472177918184872ZC3H10umls:C0036421GAD[Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.]0.0023670322011NA1256124624TG
rs1130866182635956439SFTPBumls:C0036421BeFreeGenetic polymorphisms in the surfactant proteins in systemic sclerosis in Japanese: T/T genotype at 1580 C/T (Thr131Ile) in the SP-B gene reduces the risk of interstitial lung disease.0.0053628242008SFTPB285666618GA
rs113390623740937219285SAMD9Lumls:C0036421GWASCATA systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci.0.122014SAMD9L793135669CT
rs11642873217791813394IRF8umls:C0036421GAD[We have identified three new non-HLA genes (IRF8, GRB10, and SOX5) associated with SSc clinical and auto-antibody subgroups.]0.0029099162011NA1685958099AC
rs11860650237409373684ITGAMumls:C0036421GWASCATA systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci.0.1205428842014ITGAM1631315385CT
rs1253728422440820919CD247umls:C0036421BeFreeFive single nucleotide polymorphisms, IRF5 (rs10488631, rs12537284, rs4728142), STAT4 (rs3821236), CD247 (rs2056626) reached genome-wide significance in the SSc-GWAS and were examined in the current study.0.245548392012NA7129077852GA
rs12537284224408206775STAT4umls:C0036421BeFreeFive single nucleotide polymorphisms, IRF5 (rs10488631, rs12537284, rs4728142), STAT4 (rs3821236), CD247 (rs2056626) reached genome-wide significance in the SSc-GWAS and were examined in the current study.0.2571880522012NA7129077852GA
rs12540874217791812887GRB10umls:C0036421GAD[We have identified three new non-HLA genes (IRF8, GRB10, and SOX5) associated with SSc clinical and auto-antibody subgroups.]0.1226384742011GRB10750597225AG
rs12540874217791812887GRB10umls:C0036421GWASCATWe have identified three new non-HLA genes (IRF8, GRB10, and SOX5) associated with SSc clinical and auto-antibody subgroups.0.1226384742011GRB10750597225AG
rs1323959723740937286016TPI1P2umls:C0036421GWASCATA systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci.0.122014TNPO3;TPI1P27129055929CA
rs132395972374093723534TNPO3umls:C0036421GWASCATA systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci.0.1273725382014TNPO3;TPI1P27129055929CA
rs15350012374093723294ANKS1Aumls:C0036421GWASCATA systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci.0.122014ANKS1A634959503AG
rs163585223740937221895JAZF1umls:C0036421GWASCATWith these, we add three (KIAA0319L, PXK and JAZF1) and one (KIAA0319L) new susceptibility loci for SSc and SLE, respectively, increasing significantly the knowledge of the genetic basis of autoimmunity.0.1202714422014JAZF1728149792TC
rs1799983176346634846NOS3umls:C0036421BeFreeWe investigated haemorheological variables in patients with idiopathic sudden sensorineural hearing loss (ISSHL), retinal vein occlusion (RVO) and systemic sclerosis (SSc), as possible models of microvascular damage, and their relationship with eNOS gene T-786C, G894T and 4a/4b polymorphisms.0.016545482007NOS37150999023TG
rs1799983155304594846NOS3umls:C0036421BeFreeOur results indicate that eNOS (G894T) and p22(phox) (C242T) polymorphisms do not influence susceptibility to and the course of systemic sclerosis.0.016545482004NOS37150999023TG
rs1799983120152454846NOS3umls:C0036421BeFreeHigh prevalence of polymorphisms of angiotensin-converting enzyme (I/D) and endothelial nitric oxide synthase (Glu298Asp) in patients with systemic sclerosis.0.016545482002NOS37150999023TG
rs1799983120152451636ACEumls:C0036421BeFreeHigh prevalence of polymorphisms of angiotensin-converting enzyme (I/D) and endothelial nitric oxide synthase (Glu298Asp) in patients with systemic sclerosis.0.0170883632002NOS37150999023TG
rs18007952302789079017GGCTumls:C0036421BeFreeIn the IL6 allelic combination analyses, the GGC allelic combination rs2069827-rs1800795-rs2069840 showed an association with overall SSc (Bonferroni p = 0.016, OR 1.13, 95% CI 1.04-1.23).0.0002714422012IL6;LOC541472722727026CG
rs2004640211494966775STAT4umls:C0036421BeFreeLogistic regression analysis showed an additive effect of IRF5 rs2004640, STAT4 rs7574865 and NLRP1 rs8182352 risk alleles on SSc-related FA.0.2571880522011IRF57128938247TG
rs2004640211494963663IRF5umls:C0036421BeFreeLogistic regression analysis showed an additive effect of IRF5 rs2004640, STAT4 rs7574865 and NLRP1 rs8182352 risk alleles on SSc-related FA.0.143093762011IRF57128938247TG
rs2004640191169373663IRF5umls:C0036421BeFreeAssociation between the IRF5 rs2004640 functional polymorphism and systemic sclerosis: a new perspective for pulmonary fibrosis.0.143093762009IRF57128938247TG
rs2004640191169373663IRF5umls:C0036421GAD[Association between the IRF5 rs2004640 functional polymorphism and systemic sclerosis: a new perspective for pulmonary fibrosis.]0.143093762009IRF57128938247TG
rs200464025572744472ATMumls:C0036421BeFreeSSc patients of Han Chinese showed increased homozygous TT genotype of the rs2004640 (p = 0.027, odds ratio (OR) = 1.4, CI =1.03-1.93), which was significantly associated with pulmonary fibrosis of SSc and ATA-positive SSc of Han Chinese.0.0005428842015IRF57128938247TG
rs2004640255727443663IRF5umls:C0036421BeFreeAssociation of the IRF5 SNP rs2004640 with systemic sclerosis in Han Chinese.0.143093762015IRF57128938247TG
rs205662621779181919CD247umls:C0036421GAD[Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.]0.245548392011CD2471167451188TG
rs205662621750679919CD247umls:C0036421GWASCATGenome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis.0.245548392011CD2471167451188TG
rs205662620383147919CD247umls:C0036421GAD[Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus.]0.245548392010CD2471167451188TG
rs205662622440820919CD247umls:C0036421BeFreeFive single nucleotide polymorphisms, IRF5 (rs10488631, rs12537284, rs4728142), STAT4 (rs3821236), CD247 (rs2056626) reached genome-wide significance in the SSc-GWAS and were examined in the current study.0.245548392012CD2471167451188TG
rs2056626224408206775STAT4umls:C0036421BeFreeFive single nucleotide polymorphisms, IRF5 (rs10488631, rs12537284, rs4728142), STAT4 (rs3821236), CD247 (rs2056626) reached genome-wide significance in the SSc-GWAS and were examined in the current study.0.2571880522012CD2471167451188TG
rs205662620383147919CD247umls:C0036421GWASCATGenome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus.0.245548392010CD2471167451188TG
rs20698272302789079017GGCTumls:C0036421BeFreeIn the IL6 allelic combination analyses, the GGC allelic combination rs2069827-rs1800795-rs2069840 showed an association with overall SSc (Bonferroni p = 0.016, OR 1.13, 95% CI 1.04-1.23).0.0002714422012IL6;LOC541472722725837GT
rs20698402302789079017GGCTumls:C0036421BeFreeIn the IL6 allelic combination analyses, the GGC allelic combination rs2069827-rs1800795-rs2069840 showed an association with overall SSc (Bonferroni p = 0.016, OR 1.13, 95% CI 1.04-1.23).0.0002714422012IL6;LOC541472722728953CG
rs21760822374093754899PXKumls:C0036421GWASCATWith these, we add three (KIAA0319L, PXK and JAZF1) and one (KIAA0319L) new susceptibility loci for SSc and SLE, respectively, increasing significantly the knowledge of the genetic basis of autoimmunity.0.1205428842014PXK358345459GA
rs2228044227425413569IL6umls:C0036421BeFreeWe aimed to investigate whether the functional genetic variants rs8192284 and rs2228044 previously associated with several autoimmune diseases, located within the IL-6 receptor (IL-6R) subunits IL6R and IL6ST genes, respectively, are involved in the susceptibility to SSc and/or its major clinical subphenotypes.0.011987052012IL6ST555968325CG
rs22332872175067910318TNIP1umls:C0036421GWASCATGenome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis.0.2408143262011TNIP15151060536GA
rs22752472374093779932KIAA0319Lumls:C0036421GWASCATWith these, we add three (KIAA0319L, PXK and JAZF1) and one (KIAA0319L) new susceptibility loci for SSc and SLE, respectively, increasing significantly the knowledge of the genetic basis of autoimmunity.0.1202714422014KIAA0319L135442850TC
rs2280381231248093394IRF8umls:C0036421BeFreeWe also observed associations between SSc and rs6932056 in TNFAIP3 and rs2280381 in IRF8 (P = 0.0000095 and P = 0.0030, respectively), both of which displayed associations with SSc in a European population.0.0029099162013NA1685985027CT
rs2280714194798585079PAX5umls:C0036421BeFreeAll 3 SNPs were significantly associated with SSc, with the rs2280714 A allele having the strongest association (allele frequency P=0.0012, odds ratio 1.42 [95% confidence interval 1.15-1.75]).0.0005428842009TNPO37128954671CT
rs2286482204584110911UTS2umls:C0036421BeFreeAssociation between Thr21Met and Ser89Asn polymorphisms of the urotensin II gene and systemic sclerosis.0.0002714422012UTS217853370GA
rs24766011713360826191PTPN22umls:C0036421BeFreeAssociation of the PTPN22 R620W polymorphism with anti-topoisomerase I- and anticentromere antibody-positive systemic sclerosis.0.0099013912006PTPN22;AP4B1-AS11113834946AG
rs24766012270454726191PTPN22umls:C0036421BeFreeThe PTPN22 C1858T variant as a risk factor for rheumatoid arthritis and systemic lupus erythematosus but not for systemic sclerosis in the Colombian population.0.0099013912012PTPN22;AP4B1-AS11113834946AG
rs24766011687010326191PTPN22umls:C0036421BeFreeLack of association of the PTPN22 gene polymorphism R620W with systemic sclerosis.0.0099013912006PTPN22;AP4B1-AS11113834946AG
rs24766012168814952ACP1umls:C0036421BeFreeThe aim of this study was to determine whether the functional protein tyrosine phosphatase nonreceptor 22 (PTPN22) C1858T polymorphism (rs2476601) confers susceptibility to systemic sclerosis (SSc) in different ethnic populations.0.0005428842012PTPN22;AP4B1-AS11113834946AG
rs24766012307633726191PTPN22umls:C0036421BeFreeBy contrast, PTPN22 C1858T showed a negligible association with systemic sclerosis, celiac disease, multiple sclerosis, psoriasis, ankylosing spondylitis, pemphigus vulgaris, ulcerative colitis, primary sclerosing cholangitis, primary biliary cirrhosis, Crohn's disease and acute anterior uveitis.0.0099013912012PTPN22;AP4B1-AS11113834946AG
rs24766012168814926191PTPN22umls:C0036421BeFreeThe association between the PTPN22 C1858T polymorphism and systemic sclerosis: a meta-analysis.0.0099013912012PTPN22;AP4B1-AS11113834946AG
rs25487244884117518XRCC4umls:C0036421BeFreeXRCC1 (rs: 25487) and XRCC4 (rs: 28360135) allele and genotype frequencies observed in patients with SSc were not significantly different from those observed in controls; however, the XRCC1 Arg399Gln allele was associated with increased DNA damage only in healthy controls and the XRCC4 Ile401Thr allele was associated with increased DNA damage in both patients and controls.0.0002714422014XRCC11943551574TC
rs3107462440160255584CHRNA9umls:C0036421BeFreeWe observed nominal associations for both PPARG rs310746 (PMH = 1.90 × 10⁻⁶, OR, 1.28) and CHRNA9 rs6832151 (PMH = 4.30 × 10⁻⁶, OR, 1.17) genetic variants with SSc in the first step of our study.0.0002714422013NA312218116CT
rs3129882217791813122HLA-DRAumls:C0036421GAD[Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.]0.1223670322011HLA-DRA632441753GA
rs3129882217791813122HLA-DRAumls:C0036421GWASCATIdentification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.0.1223670322011HLA-DRA632441753GA
rs313057321750679170680PSORS1C2umls:C0036421GWASCATGenome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis.0.122011PSORS1C1;PSORS1C2631138491AG
rs313057321750679170679PSORS1C1umls:C0036421GWASCATGenome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis.0.2405428842011PSORS1C1;PSORS1C2631138491AG
rs34478120967855343170OR14K1umls:C0036421BeFreeIn the Italian cohort, the rs344781 G allele was associated with SSc-related digital ulceration (odds ratio [OR] 1.39), pulmonary arterial hypertension (PAH) (OR 1.81), anticentromere antibody (ACA) positivity (OR 1.45), and limited cutaneous SSc (lcSSc) (OR 1.37).0.0002714422011PLAUR1943670636CT
rs344781209678555329PLAURumls:C0036421GAD[A genetic variation located in the promoter region of the UPAR (CD87) gene is associated with the vascular complications of systemic sclerosis.]0.0029099162011PLAUR1943670636CT
rs3733197198770596775STAT4umls:C0036421BeFreeTo determine whether the functional BANK1 variants rs3733197 and rs10516487 are associated with systemic sclerosis (SSc) in 2 European Caucasian populations and to investigate the putative gene-gene interactions between BANK1 and IRF5 as well as STAT4.0.2571880522009BANK14101918130GA
rs3733197198770593663IRF5umls:C0036421BeFreeTo determine whether the functional BANK1 variants rs3733197 and rs10516487 are associated with systemic sclerosis (SSc) in 2 European Caucasian populations and to investigate the putative gene-gene interactions between BANK1 and IRF5 as well as STAT4.0.143093762009BANK14101918130GA
rs37331971987705955024BANK1umls:C0036421BeFreeTo determine whether the functional BANK1 variants rs3733197 and rs10516487 are associated with systemic sclerosis (SSc) in 2 European Caucasian populations and to investigate the putative gene-gene interactions between BANK1 and IRF5 as well as STAT4.0.0037242412009BANK14101918130GA
rs3821236203831476775STAT4umls:C0036421GAD[Additionally, we confirm and firmly establish the role of the MHC (P = 2.31 x 10(-18)), IRF5 (P = 1.86 x 10(-13)) and STAT4 (P = 3.37 x 10(-9)) gene regions as SSc genetic risk factors.]0.2571880522010STAT42191038032GA
rs3821236203831476775STAT4umls:C0036421GWASCATAdditionally, we confirm and firmly establish the role of the MHC (P = 2.31 x 10(-18)), IRF5 (P = 1.86 x 10(-13)) and STAT4 (P = 3.37 x 10(-9)) gene regions as SSc genetic risk factors.0.2571880522010STAT42191038032GA
rs382123622440820919CD247umls:C0036421BeFreeFive single nucleotide polymorphisms, IRF5 (rs10488631, rs12537284, rs4728142), STAT4 (rs3821236), CD247 (rs2056626) reached genome-wide significance in the SSc-GWAS and were examined in the current study.0.245548392012STAT42191038032GA
rs3821236217791816775STAT4umls:C0036421GAD[Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.]0.2571880522011STAT42191038032GA
rs3821236217791816775STAT4umls:C0036421GWASCATIdentification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.0.2571880522011STAT42191038032GA
rs3821236224408206775STAT4umls:C0036421BeFreeFive single nucleotide polymorphisms, IRF5 (rs10488631, rs12537284, rs4728142), STAT4 (rs3821236), CD247 (rs2056626) reached genome-wide significance in the SSc-GWAS and were examined in the current study.0.2571880522012STAT42191038032GA
rs3827644237409379474ATG5umls:C0036421GWASCATA systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci.0.122014ATG56106237320GC
rs386493716244884117518XRCC4umls:C0036421BeFreeXRCC1 (rs: 25487) and XRCC4 (rs: 28360135) allele and genotype frequencies observed in patients with SSc were not significantly different from those observed in controls; however, the XRCC1 Arg399Gln allele was associated with increased DNA damage only in healthy controls and the XRCC4 Ile401Thr allele was associated with increased DNA damage in both patients and controls.0.0002714422014NANANANANA
rs386609373221732301493CTLA4umls:C0036421BeFreeWe examined the relationship between five gene polymorphisms [cytotoxic T lymphocyte associated antigen 4 (CTLA-4) -1722T/C, CTLA-4 -318C/T, CTLA-4 +49A/G, angiotensin-converting enzyme I/D, STAT-4 rs7574865] and susceptibility to SSc.0.0249899722012NANANANANA
rs386609373221732301636ACEumls:C0036421BeFreeWe examined the relationship between five gene polymorphisms [cytotoxic T lymphocyte associated antigen 4 (CTLA-4) -1722T/C, CTLA-4 -318C/T, CTLA-4 +49A/G, angiotensin-converting enzyme I/D, STAT-4 rs7574865] and susceptibility to SSc.0.0170883632012NANANANANA
rs386609373221732306775STAT4umls:C0036421BeFreeWe examined the relationship between five gene polymorphisms [cytotoxic T lymphocyte associated antigen 4 (CTLA-4) -1722T/C, CTLA-4 -318C/T, CTLA-4 +49A/G, angiotensin-converting enzyme I/D, STAT-4 rs7574865] and susceptibility to SSc.0.2571880522012NANANANANA
rs41322052176346634846NOS3umls:C0036421BeFreeWe investigated haemorheological variables in patients with idiopathic sudden sensorineural hearing loss (ISSHL), retinal vein occlusion (RVO) and systemic sclerosis (SSc), as possible models of microvascular damage, and their relationship with eNOS gene T-786C, G894T and 4a/4b polymorphisms.0.016545482007NOS37150993018CT
rs41322052204066104846NOS3umls:C0036421BeFreeIntron 4 aa genotype of eNOS gene is protective and homozygosity (CC) of T-786C promoter region is a risk factor for SSc in Turkish population.0.016545482010NOS37150993018CT
rs443198217791814855NOTCH4umls:C0036421GWASCATWithin the HLA region, HLA-DQB1, HLA-DPA1/B1, and NOTCH4 associations with SSc are likely confined to specific auto-antibodies.0.1226384742011NOTCH4632222629AG
rs443198217791814855NOTCH4umls:C0036421GAD[Within the HLA region, HLA-DQB1, HLA-DPA1/B1, and NOTCH4 associations with SSc are likely confined to specific auto-antibodies.]0.1226384742011NOTCH4632222629AG
rs472814222440820919CD247umls:C0036421BeFreeFive single nucleotide polymorphisms, IRF5 (rs10488631, rs12537284, rs4728142), STAT4 (rs3821236), CD247 (rs2056626) reached genome-wide significance in the SSc-GWAS and were examined in the current study.0.245548392012NA7128933913GA
rs4728142224408206775STAT4umls:C0036421BeFreeFive single nucleotide polymorphisms, IRF5 (rs10488631, rs12537284, rs4728142), STAT4 (rs3821236), CD247 (rs2056626) reached genome-wide significance in the SSc-GWAS and were examined in the current study.0.2571880522012NA7128933913GA
rs5029939205116177128TNFAIP3umls:C0036421BeFreeAssociation of the TNFAIP3 rs5029939 variant with systemic sclerosis in the European Caucasian population.0.0034527992010TNFAIP36137874586CG
rs5029939205116177128TNFAIP3umls:C0036421GAD[Association of the TNFAIP3 rs5029939 variant with systemic sclerosis in the European Caucasian population.]0.0034527992010TNFAIP36137874586CG
rs6457617203831473119HLA-DQB1umls:C0036421GAD[Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus.]0.152204572010NA632696074CT
rs68321512440160255584CHRNA9umls:C0036421BeFreeWe observed nominal associations for both PPARG rs310746 (PMH = 1.90 × 10⁻⁶, OR, 1.28) and CHRNA9 rs6832151 (PMH = 4.30 × 10⁻⁶, OR, 1.17) genetic variants with SSc in the first step of our study.0.0002714422013NA440301616GA,T
rs6918698229064741490CTGFumls:C0036421BeFreeAssociation between the CTGF -945C/G polymorphism and systemic sclerosis: a meta-analysis.0.0227787112012CTGF6131952117GC
rs6918698215489901490CTGFumls:C0036421BeFreeThe -945GC polymorphism (rs6918698) in the connective tissue growth factor gene promoter (CTGF/CCN-2) has been associated with end organ damage in systemic sclerosis.0.0227787112011CTGF6131952117GC
rs6932056231248093394IRF8umls:C0036421BeFreeWe also observed associations between SSc and rs6932056 in TNFAIP3 and rs2280381 in IRF8 (P = 0.0000095 and P = 0.0030, respectively), both of which displayed associations with SSc in a European population.0.0029099162013NA6137921300TC
rs70484023740937100506023LOC100506023umls:C0036421GWASCATA systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci.0.122014LOC1005060231173257056TG
rs733618221732306775STAT4umls:C0036421BeFreeWe examined the relationship between five gene polymorphisms [cytotoxic T lymphocyte associated antigen 4 (CTLA-4) -1722T/C, CTLA-4 -318C/T, CTLA-4 +49A/G, angiotensin-converting enzyme I/D, STAT-4 rs7574865] and susceptibility to SSc.0.2571880522012CTLA42203866221TC
rs733618221732301493CTLA4umls:C0036421BeFreeWe examined the relationship between five gene polymorphisms [cytotoxic T lymphocyte associated antigen 4 (CTLA-4) -1722T/C, CTLA-4 -318C/T, CTLA-4 +49A/G, angiotensin-converting enzyme I/D, STAT-4 rs7574865] and susceptibility to SSc.0.0249899722012CTLA42203866221TC
rs733618221732301636ACEumls:C0036421BeFreeWe examined the relationship between five gene polymorphisms [cytotoxic T lymphocyte associated antigen 4 (CTLA-4) -1722T/C, CTLA-4 -318C/T, CTLA-4 +49A/G, angiotensin-converting enzyme I/D, STAT-4 rs7574865] and susceptibility to SSc.0.0170883632012CTLA42203866221TC
rs7574865221732301636ACEumls:C0036421BeFreeWe examined the relationship between five gene polymorphisms [cytotoxic T lymphocyte associated antigen 4 (CTLA-4) -1722T/C, CTLA-4 -318C/T, CTLA-4 +49A/G, angiotensin-converting enzyme I/D, STAT-4 rs7574865] and susceptibility to SSc.0.0170883632012STAT42191099907TG
rs7574865217506796775STAT4umls:C0036421GWASCATGenome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis.0.2571880522011STAT42191099907TG
rs7574865211494963663IRF5umls:C0036421BeFreeLogistic regression analysis showed an additive effect of IRF5 rs2004640, STAT4 rs7574865 and NLRP1 rs8182352 risk alleles on SSc-related FA.0.143093762011STAT42191099907TG
rs7574865221732301493CTLA4umls:C0036421BeFreeWe examined the relationship between five gene polymorphisms [cytotoxic T lymphocyte associated antigen 4 (CTLA-4) -1722T/C, CTLA-4 -318C/T, CTLA-4 +49A/G, angiotensin-converting enzyme I/D, STAT-4 rs7574865] and susceptibility to SSc.0.0249899722012STAT42191099907TG
rs7574865211494966775STAT4umls:C0036421BeFreeLogistic regression analysis showed an additive effect of IRF5 rs2004640, STAT4 rs7574865 and NLRP1 rs8182352 risk alleles on SSc-related FA.0.2571880522011STAT42191099907TG
rs7574865221732306775STAT4umls:C0036421BeFreeWe examined the relationship between five gene polymorphisms [cytotoxic T lymphocyte associated antigen 4 (CTLA-4) -1722T/C, CTLA-4 -318C/T, CTLA-4 +49A/G, angiotensin-converting enzyme I/D, STAT-4 rs7574865] and susceptibility to SSc.0.2571880522012STAT42191099907TG
rs7601754237409376775STAT4umls:C0036421GWASCATA systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci.0.2571880522014STAT42191075725GA
rs7633612294156610666CD226umls:C0036421BeFreeOn the other hand, associations were found between the CD226 rs763361 T allele and systemic sclerosis (SSc) and type 1 diabetes (T1D) (OR 1.126, 95% CI 1.020-1.244, p = 0.019; OR 1.353, 95% CI 1.102-1.660, p = 0.004).0.0013572092012CD2261869864406TA,C
rs8182352211494963663IRF5umls:C0036421BeFreeLogistic regression analysis showed an additive effect of IRF5 rs2004640, STAT4 rs7574865 and NLRP1 rs8182352 risk alleles on SSc-related FA.0.143093762011NA175651667TC
rs8182352211494966775STAT4umls:C0036421BeFreeLogistic regression analysis showed an additive effect of IRF5 rs2004640, STAT4 rs7574865 and NLRP1 rs8182352 risk alleles on SSc-related FA.0.2571880522011NA175651667TC
rs8192284227425413569IL6umls:C0036421BeFreeWe aimed to investigate whether the functional genetic variants rs8192284 and rs2228044 previously associated with several autoimmune diseases, located within the IL-6 receptor (IL-6R) subunits IL6R and IL6ST genes, respectively, are involved in the susceptibility to SSc and/or its major clinical subphenotypes.0.011987052012NANANANANA
rs9275390217791813119HLA-DQB1umls:C0036421GAD[Within the HLA region, HLA-DQB1, HLA-DPA1/B1, and NOTCH4 associations with SSc are likely confined to specific auto-antibodies.]0.152204572011NA632701379TC
rs9296015217791814855NOTCH4umls:C0036421GAD[Within the HLA region, HLA-DQB1, HLA-DPA1/B1, and NOTCH4 associations with SSc are likely confined to specific auto-antibodies.]0.1226384742011NA632251212GA
rs92960152177918110665C6orf10umls:C0036421GWASCATIdentification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.0.122011NA632251212GA
rs9607092374093710318TNIP1umls:C0036421GWASCATA systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci.0.2408143262014TNIP15151081488AG
rs987870217791813115HLA-DPB1umls:C0036421GWASCATIdentification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.0.1358308432011HLA-DPA1;HLA-DPB1633075103AG
rs987870217791813113HLA-DPA1umls:C0036421GWASCATWithin the HLA region, HLA-DQB1, HLA-DPA1/B1, and NOTCH4 associations with SSc are likely confined to specific auto-antibodies.0.1223670322011HLA-DPA1;HLA-DPB1633075103AG
rs987870217791813115HLA-DPB1umls:C0036421GAD[Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.]0.1358308432011HLA-DPA1;HLA-DPB1633075103AG
rs987870217791813113HLA-DPA1umls:C0036421GAD[Within the HLA region, HLA-DQB1, HLA-DPA1/B1, and NOTCH4 associations with SSc are likely confined to specific auto-antibodies.]0.1223670322011HLA-DPA1;HLA-DPB1633075103AG
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:182)
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
122986403rs631090TCrs631090217506798.80E-05NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
137074351rs4653210TGrs4653210217506792.60E-05NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
138806630rs6679637GArs6679637217506796.29E-05NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
167822377rs3790567AGrs3790567217791811.97E-04NANANA2,296 European ancestry cases; 5,172 European ancestry controlsEuropean(7468)ALL(7468)EUR(7468)ALL(7468)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
1167420425rs2056626TGrs2056626203831473.00E-09NA1.16[1.11-1.23] 2,296 European ancestry cases; 5,171 European ancestry controlsEuropean(7467)ALL(7467)EUR(7467)ALL(7467)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
1167420425rs2056626TGrs2056626217506791.00E-06NA1.2[1.12-1.30] 564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
1167420425rs2056626TGrs2056626217791813.00E-06IcSSc1.23[1.12-1.33] 2,296 European ancestry cases; 5,172 European ancestry controlsEuropean(7468)ALL(7468)EUR(7468)ALL(7468)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
1239506077rs10925871GArs10925871217506796.38E-05NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
210713932rs4668690GArs4668690217506798.05E-05NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
210850929rs7422405GArs7422405217506794.55E-05NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
220685471rs342070CTrs342070217506791.04E-05NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
220688519rs13021401CTrs13021401217506793.00E-06NA1.21[1.12-1.31] 564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
271690860rs11692280GArs11692280217506791.08E-05NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
2191902758rs3821236GArs3821236203831473.00E-09NA1.3[1.19-1.41] 2,296 European ancestry cases; 5,171 European ancestry controlsEuropean(7467)ALL(7467)EUR(7467)ALL(7467)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
2191902758rs3821236GArs3821236217791819.00E-08IcSSc1.31[1.19-1.48] 2,296 European ancestry cases; 5,172 European ancestry controlsEuropean(7468)ALL(7468)EUR(7468)ALL(7468)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
2191964633rs7574865TGrs7574865217506792.00E-13NA1.38[1.27-1.50]564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
2232183591rs1868929CTrs1868929217791817.67E-05NANANA2,296 European ancestry cases; 5,172 European ancestry controlsEuropean(7468)ALL(7468)EUR(7468)ALL(7468)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
310277866rs11706450TCrs11706450217506797.86E-05NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
312259616rs310746CTrs310746217506796.15E-05NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
312493347rs9855622CTrs9855622217506793.48E-06NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
329597791rs35883AGrs35883217506798.60E-05NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
329620604rs13323338CTrs13323338217506792.06E-05NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
346644909rs6799581TGrs6799581217506795.35E-05NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
3117152384rs4128236CTrs4128236217506796.60E-05NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
4965779rs11724804GArs11724804217791811.99E-05NANANA2,296 European ancestry cases; 5,172 European ancestry controlsEuropean(7468)ALL(7468)EUR(7468)ALL(7468)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
440303633rs6832151GTrs6832151217506796.11E-05NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
495224812rs17021463TGrs17021463217506799.48E-05NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
4156074074rs13138293TGrs13138293217506795.47E-05NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
4156080728rs2880417AGrs2880417217506799.57E-05NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
53451906rs32723TGrs32723217506796.19E-05NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
519919301rs1911856TCrs1911856217506791.04E-05NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
519923791rs12655266AGrs12655266217506793.08E-05NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
519926525rs2202798TCrs2202798217506792.60E-05NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
562094034rs7708428AGrs7708428217506794.54E-05NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
5150440097rs2233287GArs2233287217506795.00E-09NA1.31[1.15-1.43] 564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
5150450236rs4958881TCrs4958881217506791.19E-05NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
5150455732rs3792783AGrs3792783217506791.14E-05NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
5168292739rs2938769CTrs2938769217506792.86E-05NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
630805921rs3095352CTrs3095352203831473.12E-06NANANA2,296 European ancestry cases; 5,171 European ancestry controlsEuropean(7467)ALL(7467)EUR(7467)ALL(7467)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
630996132rs564732150CTrs12665700203831477.25E-07NANANA2,296 European ancestry cases; 5,171 European ancestry controlsEuropean(7467)ALL(7467)EUR(7467)ALL(7467)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
631106268rs3130573AGrs3130573217506796.00E-10NA1.25[1.17-1.35]564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
631350704rs1521CTrs1521203831478.96E-09NANANA2,296 European ancestry cases; 5,171 European ancestry controlsEuropean(7467)ALL(7467)EUR(7467)ALL(7467)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
631360389rs2523477TCrs2523477203831471.94E-07NANANA2,296 European ancestry cases; 5,171 European ancestry controlsEuropean(7467)ALL(7467)EUR(7467)ALL(7467)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
631425985rs2596480CTrs2596480203831476.55E-07NANANA2,296 European ancestry cases; 5,171 European ancestry controlsEuropean(7467)ALL(7467)EUR(7467)ALL(7467)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
631446796rs2248462GArs2248462203831473.27E-07NANANA2,296 European ancestry cases; 5,171 European ancestry controlsEuropean(7467)ALL(7467)EUR(7467)ALL(7467)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
631449994rs2516509TCrs2516509203831474.19E-07NANANA2,296 European ancestry cases; 5,171 European ancestry controlsEuropean(7467)ALL(7467)EUR(7467)ALL(7467)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
631481299rs2516399AGrs2516399203831476.27E-09NANANA2,296 European ancestry cases; 5,171 European ancestry controlsEuropean(7467)ALL(7467)EUR(7467)ALL(7467)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
631481526rs2516398GTrs2516398203831471.64E-07NANANA2,296 European ancestry cases; 5,171 European ancestry controlsEuropean(7467)ALL(7467)EUR(7467)ALL(7467)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
631483415rs2844494CArs2844494203831473.22E-08NANANA2,296 European ancestry cases; 5,171 European ancestry controlsEuropean(7467)ALL(7467)EUR(7467)ALL(7467)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
631603591rs2261033AGrs2261033203831472.49E-06NANANA2,296 European ancestry cases; 5,171 European ancestry controlsEuropean(7467)ALL(7467)EUR(7467)ALL(7467)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
631726688rs707939CArs707939203831476.55E-07NANANA2,296 European ancestry cases; 5,171 European ancestry controlsEuropean(7467)ALL(7467)EUR(7467)ALL(7467)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
631777946rs2075800CTrs2075800203831471.58E-07NANANA2,296 European ancestry cases; 5,171 European ancestry controlsEuropean(7467)ALL(7467)EUR(7467)ALL(7467)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
631946614rs6941112GArs6941112203831472.29E-07NANANA2,296 European ancestry cases; 5,171 European ancestry controlsEuropean(7467)ALL(7467)EUR(7467)ALL(7467)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
632030284rs2239689GArs2239689203831474.64E-09NANANA2,296 European ancestry cases; 5,171 European ancestry controlsEuropean(7467)ALL(7467)EUR(7467)ALL(7467)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
632038700rs2071295CTrs2071295203831472.71E-09NANANA2,296 European ancestry cases; 5,171 European ancestry controlsEuropean(7467)ALL(7467)EUR(7467)ALL(7467)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
632074804rs12153855TCrs12153855203831475.08E-08NANANA2,296 European ancestry cases; 5,171 European ancestry controlsEuropean(7467)ALL(7467)EUR(7467)ALL(7467)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
632109979rs204999AGrs204999203831472.30E-09NANANA2,296 European ancestry cases; 5,171 European ancestry controlsEuropean(7467)ALL(7467)EUR(7467)ALL(7467)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
632151222rs1035798GArs1035798203831472.66E-09NANANA2,296 European ancestry cases; 5,171 European ancestry controlsEuropean(7467)ALL(7467)EUR(7467)ALL(7467)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
632179896rs2071286CTrs2071286203831471.67E-10NANANA2,296 European ancestry cases; 5,171 European ancestry controlsEuropean(7467)ALL(7467)EUR(7467)ALL(7467)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
632190406rs443198AGrs443198203831476.82E-12NANANA2,296 European ancestry cases; 5,171 European ancestry controlsEuropean(7467)ALL(7467)EUR(7467)ALL(7467)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
632190406rs443198AGrs443198217791819.00E-21ACA positive1.82[1.59-2.04]2,296 European ancestry cases; 5,172 European ancestry controlsEuropean(7468)ALL(7468)EUR(7468)ALL(7468)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
632193678rs479536GArs479536203831471.50E-08NANANA2,296 European ancestry cases; 5,171 European ancestry controlsEuropean(7467)ALL(7467)EUR(7467)ALL(7467)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
632218989rs9296015GArs9296015217791811.00E-08ATA positive1.85[1.49-2.27] 2,296 European ancestry cases; 5,172 European ancestry controlsEuropean(7468)ALL(7468)EUR(7468)ALL(7468)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
632266490rs28366174TA,C,Grs28366174217506797.81E-05NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
632337686rs3129941AGrs3129941203831471.43E-06NANANA2,296 European ancestry cases; 5,171 European ancestry controlsEuropean(7467)ALL(7467)EUR(7467)ALL(7467)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
632406342rs3129871ACrs3129871203831474.95E-08NANANA2,296 European ancestry cases; 5,171 European ancestry controlsEuropean(7467)ALL(7467)EUR(7467)ALL(7467)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
632409530rs3129882GArs3129882217791812.00E-27ATA positive2.17[1.88-2.50]2,296 European ancestry cases; 5,172 European ancestry controlsEuropean(7468)ALL(7468)EUR(7468)ALL(7468)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
632590925rs3129763GArs3129763217791811.00E-11ATA positive1.65[1.42-1.91]2,296 European ancestry cases; 5,172 European ancestry controlsEuropean(7468)ALL(7468)EUR(7468)ALL(7468)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
632659878rs9275224AGrs9275224217506799.18E-08NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
632660943rs9275245AGrs9275245217506791.39E-07NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
632663564rs5000634AGrs5000634203831479.13E-13NANANA2,296 European ancestry cases; 5,171 European ancestry controlsEuropean(7467)ALL(7467)EUR(7467)ALL(7467)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
632663851rs6457617CTrs6457617203831474.00E-17NA1.37[1.28-1.47]2,296 European ancestry cases; 5,171 European ancestry controlsEuropean(7467)ALL(7467)EUR(7467)ALL(7467)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
632663851rs6457617CTrs6457617217506792.00E-37NA1.61[1.49-1.72]564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
632665728rs9275312AGrs9275312203831473.70E-08NANANA2,296 European ancestry cases; 5,171 European ancestry controlsEuropean(7467)ALL(7467)EUR(7467)ALL(7467)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
632669156rs9275390TCrs9275390203831471.87E-10NANANA2,296 European ancestry cases; 5,171 European ancestry controlsEuropean(7467)ALL(7467)EUR(7467)ALL(7467)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
632669156rs9275390TCrs9275390217791811.00E-07ATA positive1.61[1.35-1.92] 2,296 European ancestry cases; 5,172 European ancestry controlsEuropean(7468)ALL(7468)EUR(7468)ALL(7468)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
632669156rs9275390TCrs9275390217791813.00E-54ACA positive2.38[2.13-2.67] 2,296 European ancestry cases; 5,172 European ancestry controlsEuropean(7468)ALL(7468)EUR(7468)ALL(7468)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
632670000rs2858308GTrs2858308217506794.76E-05NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
632670956rs2856705CTrs2856705203831473.71E-14NANANA2,296 European ancestry cases; 5,171 European ancestry controlsEuropean(7467)ALL(7467)EUR(7467)ALL(7467)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
632670956rs2856705CTrs2856705217506794.76E-05NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
632671103rs13192471TCrs13192471217506791.81E-05NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
632685685rs3104398GArs3104398203831472.81E-07NANANA2,296 European ancestry cases; 5,171 European ancestry controlsEuropean(7467)ALL(7467)EUR(7467)ALL(7467)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
632724189rs7774954CArs7774954203831473.06E-07NANANA2,296 European ancestry cases; 5,171 European ancestry controlsEuropean(7467)ALL(7467)EUR(7467)ALL(7467)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
633042880rs987870AGrs987870217791812.00E-20ATA positive2.09[1.78-2.45]2,296 European ancestry cases; 5,172 European ancestry controlsEuropean(7468)ALL(7468)EUR(7468)ALL(7468)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
633055538rs9277554CTrs9277554203831474.64E-08NANANA2,296 European ancestry cases; 5,171 European ancestry controlsEuropean(7467)ALL(7467)EUR(7467)ALL(7467)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
633055899rs3128965GArs3128965199503021.07E-07Systemic sclerosis (Anti-centromere antibody positive)NANA133 Korean cases; 557 Korean controlsKorean(690)ALL(690)ASN(690)ALL(690)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
633055899rs3128965GArs3128965199503021.09E-04Systemic sclerosis (Diffuse/anti-topoisomerase I antibody)NANA133 Korean cases; 557 Korean controlsKorean(690)ALL(690)ASN(690)ALL(690)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
633055899rs3128965GArs3128965199503021.29E-05Systemic sclerosis (Limited)NANA133 Korean cases; 557 Korean controlsKorean(690)ALL(690)ASN(690)ALL(690)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
633055899rs3128965GArs3128965199503021.71E-05Systemic sclerosis (Limited/anti-centromere antibody)NANA133 Korean cases; 557 Korean controlsKorean(690)ALL(690)ASN(690)ALL(690)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
633055899rs3128965GArs3128965199503024.37E-06Systemic sclerosis (Anti-centromere antibody negative)NANA133 Korean cases; 557 Korean controlsKorean(690)ALL(690)ASN(690)ALL(690)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
633055899rs3128965GArs3128965199503024.47E-05Systemic sclerosisNANA133 Korean cases; 557 Korean controlsKorean(690)ALL(690)ASN(690)ALL(690)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
633055899rs3128965GArs3128965199503026.28E-09Systemic sclerosis (Anti-topoisomerase-I antibody positive)NANA133 Korean cases; 557 Korean controlsKorean(690)ALL(690)ASN(690)ALL(690)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
633060428rs7763822CTrs7763822199503021.77E-12Systemic sclerosis (Diffuse/anti-topoisomerase I antibody)NANA133 Korean cases; 557 Korean controlsKorean(690)ALL(690)ASN(690)ALL(690)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
633060428rs7763822CTrs7763822199503025.28E-10Systemic sclerosis (Diffuse)NANA133 Korean cases; 557 Korean controlsKorean(690)ALL(690)ASN(690)ALL(690)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
633060428rs7763822CTrs7763822199503025.60E-04Systemic sclerosis (Anti-centromere antibody positive)NANA133 Korean cases; 557 Korean controlsKorean(690)ALL(690)ASN(690)ALL(690)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
633060428rs7763822CTrs7763822199503027.64E-08Systemic sclerosisNANA133 Korean cases; 557 Korean controlsKorean(690)ALL(690)ASN(690)ALL(690)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
633060428rs7763822CTrs7763822199503028.24E-09Systemic sclerosis (Anti-centromere antibody negative)NANA133 Korean cases; 557 Korean controlsKorean(690)ALL(690)ASN(690)ALL(690)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
633060428rs7763822CTrs7763822199503028.61E-19Systemic sclerosis (Anti-topoisomerase-I antibody positive)NANA133 Korean cases; 557 Korean controlsKorean(690)ALL(690)ASN(690)ALL(690)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
633060840rs7764491CGrs7764491199503021.77E-12Systemic sclerosis (Diffuse/anti-topoisomerase I antibody)NANA133 Korean cases; 557 Korean controlsKorean(690)ALL(690)ASN(690)ALL(690)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
633060840rs7764491CGrs7764491199503022.86E-18Systemic sclerosis (Anti-topoisomerase-I antibody positive)NANA133 Korean cases; 557 Korean controlsKorean(690)ALL(690)ASN(690)ALL(690)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
633060840rs7764491CGrs7764491199503025.28E-10Systemic sclerosis (Diffuse)NANA133 Korean cases; 557 Korean controlsKorean(690)ALL(690)ASN(690)ALL(690)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
633060840rs7764491CGrs7764491199503027.64E-08Systemic sclerosisNANA133 Korean cases; 557 Korean controlsKorean(690)ALL(690)ASN(690)ALL(690)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
633060840rs7764491CGrs7764491199503028.24E-09Systemic sclerosis (Anti-centromere antibody negative)NANA133 Korean cases; 557 Korean controlsKorean(690)ALL(690)ASN(690)ALL(690)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
633075635rs3117230AGrs3117230199503021.04E-05Systemic sclerosis (Limited)NANA133 Korean cases; 557 Korean controlsKorean(690)ALL(690)ASN(690)ALL(690)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
633075635rs3117230AGrs3117230199503023.37E-06Systemic sclerosis (Anti-centromere antibody negative)NANA133 Korean cases; 557 Korean controlsKorean(690)ALL(690)ASN(690)ALL(690)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
633075635rs3117230AGrs3117230199503023.52E-05Systemic sclerosisNANA133 Korean cases; 557 Korean controlsKorean(690)ALL(690)ASN(690)ALL(690)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
633075635rs3117230AGrs3117230199503024.51E-09Systemic sclerosis (Anti-topoisomerase-I antibody positive)NANA133 Korean cases; 557 Korean controlsKorean(690)ALL(690)ASN(690)ALL(690)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
633075635rs3117230AGrs3117230199503024.77E-04Systemic sclerosis (Anti-centromere antibody positive)NANA133 Korean cases; 557 Korean controlsKorean(690)ALL(690)ASN(690)ALL(690)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
633075635rs3117230AGrs3117230199503026.90E-04Systemic sclerosis (Limited/anti-centromere antibody)NANA133 Korean cases; 557 Korean controlsKorean(690)ALL(690)ASN(690)ALL(690)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
633075635rs3117230AGrs3117230199503029.24E-05Systemic sclerosis (Diffuse/anti-topoisomerase I antibody)NANA133 Korean cases; 557 Korean controlsKorean(690)ALL(690)ASN(690)ALL(690)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
633075666rs3128930CTrs3128930199503021.15E-11Systemic sclerosis (Diffuse)NANA133 Korean cases; 557 Korean controlsKorean(690)ALL(690)ASN(690)ALL(690)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
633075666rs3128930CTrs3128930199503021.67E-07Systemic sclerosis (Limited)NANA133 Korean cases; 557 Korean controlsKorean(690)ALL(690)ASN(690)ALL(690)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
633075666rs3128930CTrs3128930199503023.33E-16Systemic sclerosis (Diffuse/anti-topoisomerase I antibody)NANA133 Korean cases; 557 Korean controlsKorean(690)ALL(690)ASN(690)ALL(690)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
633075666rs3128930CTrs3128930199503024.38E-15Systemic sclerosis (Anti-centromere antibody negative)NANA133 Korean cases; 557 Korean controlsKorean(690)ALL(690)ASN(690)ALL(690)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
633075666rs3128930CTrs3128930199503028.16E-13Systemic sclerosisNANA133 Korean cases; 557 Korean controlsKorean(690)ALL(690)ASN(690)ALL(690)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
633075666rs3128930CTrs3128930199503028.26E-22Systemic sclerosis (Anti-topoisomerase-I antibody positive)NANA133 Korean cases; 557 Korean controlsKorean(690)ALL(690)ASN(690)ALL(690)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
633098276rs6901221ACrs6901221203831471.19E-07NANANA2,296 European ancestry cases; 5,171 European ancestry controlsEuropean(7467)ALL(7467)EUR(7467)ALL(7467)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
6101337611rs9498419AGrs9498419217506797.76E-06NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
6101338978rs6919745TCrs6919745217506798.21E-06NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
6101339400rs7771570CTrs7771570217506791.82E-05NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
725911033rs10272701CTrs10272701217506799.22E-05NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
750664922rs12540874AGrs12540874217791811.00E-06IcSSc1.15[1.09-1.22] 2,296 European ancestry cases; 5,172 European ancestry controlsEuropean(7468)ALL(7468)EUR(7468)ALL(7468)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
770904561rs4585627TCrs4585627217506793.42E-05NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
782005470rs1544461GArs1544461217506793.64E-05NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
784028918rs1228870GTrs1228870217506797.62E-05NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
784086502rs1228966GArs1228966217506798.77E-05NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
784137622rs757747CTrs757747217506795.57E-05NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
784139004rs1029541CTrs1029541217506792.37E-05NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
784328077rs4329228ACrs4329228217506791.08E-05NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
7116218675rs2402091AGrs2402091217506795.34E-05NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
7122527198rs2501439AGrs2501439217506799.29E-05NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
7128594183rs10488631TCrs10488631203831472.00E-13NA1.5[1.35-1.67]2,296 European ancestry cases; 5,171 European ancestry controlsEuropean(7467)ALL(7467)EUR(7467)ALL(7467)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
7128594183rs10488631TCrs10488631217506794.00E-07NA1.35[1.20-1.51] 564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
7128594183rs10488631TCrs10488631217791811.00E-09dcSSc1.61[1.38-1.88] 2,296 European ancestry cases; 5,172 European ancestry controlsEuropean(7468)ALL(7468)EUR(7468)ALL(7468)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
7128594183rs10488631TCrs10488631217791812.00E-07ACA positive1.52[1.30-1.79] 2,296 European ancestry cases; 5,172 European ancestry controlsEuropean(7468)ALL(7468)EUR(7468)ALL(7468)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
7128594183rs10488631TCrs10488631217791812.00E-10IcSSc1.5[1.32-1.69]2,296 European ancestry cases; 5,172 European ancestry controlsEuropean(7468)ALL(7468)EUR(7468)ALL(7468)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
7128594183rs10488631TCrs10488631217791818.00E-07ATA positive1.63[1.34-1.98] 2,296 European ancestry cases; 5,172 European ancestry controlsEuropean(7468)ALL(7468)EUR(7468)ALL(7468)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
842657098rs6474421GArs6474421217506792.80E-05NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
8124514400rs3739284CTrs3739284217506799.31E-05NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
8131161571rs6470805AGrs6470805217506798.60E-05NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
8131281826rs7839523GTrs7839523217506794.86E-05NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
8131319822rs7817803ACrs7817803217506794.73E-05NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
8131329837rs3057CTrs3057217506792.09E-05NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
911709025rs443042AGrs443042217506796.35E-05NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
911710328rs10756265GArs10756265217506794.80E-05NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
995845152rs9696357CTrs9696357217506799.08E-05NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
9100482503rs2668797GArs2668797217506792.90E-05NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
9100496160rs2805815GArs2805815217506796.08E-05NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
9100499206rs2805790GArs2805790217506795.20E-05NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
9100505830rs2808699CArs2808699217506794.41E-05NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
9138552234rs541131GArs541131217506791.63E-05NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
1044448020rs1254860CTrs1254860217506799.69E-05NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
1146180693rs7128538GArs7128538217506792.55E-05NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
11132774841rs11223273CTrs11223273217506799.91E-05NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
11132779393rs2725466AGrs2725466217506796.19E-06NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
11132781823rs2725437TCrs2725437217506792.52E-05NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
11132795569rs10894623GTrs10894623217506797.75E-05NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
1223946146rs11047102CTrs11047102217791811.00E-07ACA positive1.36[1.21-1.52] 2,296 European ancestry cases; 5,172 European ancestry controlsEuropean(7468)ALL(7468)EUR(7468)ALL(7468)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
1223946146rs11047102CTrs11047102217791815.00E-06IcSSc1.24[1.13-1.35] 2,296 European ancestry cases; 5,172 European ancestry controlsEuropean(7468)ALL(7468)EUR(7468)ALL(7468)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
1256518408rs11171747TGrs11171747217791816.00E-08dcSSc1.23[1.14-1.33] 2,296 European ancestry cases; 5,172 European ancestry controlsEuropean(7468)ALL(7468)EUR(7468)ALL(7468)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
12132200162rs10794423CTrs10794423217506796.32E-05NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
1334710780rs7335534AGrs7335534217506799.70E-05NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
1334716493rs11147544AGrs11147544217506798.26E-05NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
1433584125rs1299512GArs1299512217506798.34E-05NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
1483225103rs1036570AGrs1036570217506794.88E-05NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
1567425033rs12102171CTrs12102171217506793.99E-05NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
1567428014rs4147358CArs4147358217506791.65E-05NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
1649717571rs1990629GArs1990629217506797.56E-05NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
1649720240rs1477020TCrs1477020217506792.49E-05NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
1665306262rs1423773GArs1423773217506796.57E-05NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
1685991705rs11642873ACrs11642873217791812.00E-12IcSSc1.33[1.23-1.45]2,296 European ancestry cases; 5,172 European ancestry controlsEuropean(7468)ALL(7468)EUR(7468)ALL(7468)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
1733026691rs4795032CTrs4795032217506792.93E-05NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
1733078110rs887081TGrs887081217506795.17E-05NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
1738092713rs8079416TCrs8079416217506791.11E-05NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
182002665rs1940646AGrs1940646217506799.06E-05NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
1860683641rs2877745CTrs2877745217506793.40E-05NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
1872186404rs2241508GArs2241508217506791.80E-05NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
1911417200rs322151CTrs322151217506797.79E-05NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
2119474615rs2248200CTrs2248200217506798.85E-05NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
2119474777rs1688165AGrs1688165217506798.27E-05NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
2129485359rs2831511CTrs2831511217506799.71E-05NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
2218877787rs2543958TGrs2543958217506797.46E-05NANANA564 European ancestry cases; 1,776 European ancestry controlsEuropean(2340)ALL(2340)EUR(2340)ALL(2340)Systemic sclerosisHPOID:0000096HPOID:0001967HPOID:0009741HPOID:0008664HPOID:0001150HPOID:0000362HPOID:0006918HPOID:0005450HPOID:0005652HPOID:0005686HPOID:0005789HPOID:0100923HPOID:0100925
Mapped by lexical matching(Total Items:0)
(Waiting for update.)
Mapped by homologous gene(Total Items:0)
(Waiting for update.)
Disease ID 185
Disease systemic scleroderma
Case(Waiting for update.)