systemic sclerosis Gene Set

Dataset GAD Gene-Disease Associations
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

23 genes associated with the disease systemic sclerosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Symbol Name
ACE angiotensin I converting enzyme
COL1A2 collagen, type I, alpha 2
CTGF connective tissue growth factor
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CYP2C19 cytochrome P450, family 2, subfamily C, polypeptide 19
CYP2E1 cytochrome P450, family 2, subfamily E, polypeptide 1
FAS Fas cell surface death receptor
FBN1 fibrillin 1
FN1 fibronectin 1
HLA-DPB1 major histocompatibility complex, class II, DP beta 1
HLA-DPB2 major histocompatibility complex, class II, DP beta 2 (pseudogene)
HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1
HLA-DQB1 major histocompatibility complex, class II, DQ beta 1
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
IL1A interleukin 1, alpha
NOS3 nitric oxide synthase 3 (endothelial cell)
PDGFB platelet-derived growth factor beta polypeptide
PTPRC protein tyrosine phosphatase, receptor type, C
STAT4 signal transducer and activator of transcription 4
TBX21 T-box 21
TGFB1 transforming growth factor, beta 1
TNFSF4 tumor necrosis factor (ligand) superfamily, member 4
TNIP1 TNFAIP3 interacting protein 1