systemic scleroderma Gene Set

Dataset DISEASES Experimental Gene-Disease Association Evidence Scores
Category disease or phenotype associations
Type disease
Description A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.|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. (Experimental Factor Ontology, EFO_0000717)
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Genes

26 genes associated with the disease systemic scleroderma in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
HLA-DPA1 major histocompatibility complex, class II, DP alpha 1 1.37597
STAT4 signal transducer and activator of transcription 4 0.945428
HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 0.817078
TNPO3 transportin 3 0.69843
NOTCH4 notch 4 0.65413
PSORS1C2 psoriasis susceptibility 1 candidate 2 0.65413
PSORS1C1 psoriasis susceptibility 1 candidate 1 0.65413
TNIP1 TNFAIP3 interacting protein 1 0.561725
MICB MHC class I polypeptide-related sequence B 0.552621
MICA MHC class I polypeptide-related sequence A 0.544585
TNXB tenascin XB 0.486425
ATF6B activating transcription factor 6 beta 0.464771
ZC3H10 zinc finger CCCH-type containing 10 0.429338
HLA-DQA2 major histocompatibility complex, class II, DQ alpha 2 0.414708
PRRC2A proline-rich coiled-coil 2A 0.403461
PRRT1 proline-rich transmembrane protein 1 0.403461
SOX5 SRY (sex determining region Y)-box 5 0.403461
HLA-DPB1 major histocompatibility complex, class II, DP beta 1 0.403461
CDH7 cadherin 7, type 2 0.368757
HLA-DPB2 major histocompatibility complex, class II, DP beta 2 (pseudogene) 0.368757
HSPA1L heat shock 70kDa protein 1-like 0.327313
IRF5 interferon regulatory factor 5 0.311576
MUC21 mucin 21, cell surface associated 0.274608
GRB10 growth factor receptor-bound protein 10 0.256228
CD247 CD247 molecule 0.256228
STK19 serine/threonine kinase 19 0.256228