systemic scleroderma Gene Set

Dataset	DISEASES Curated 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

6 genes involed in the disease systemic scleroderma from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

Symbol	Name
BANK1	B-cell scaffold protein with ankyrin repeats 1
BLK	BLK proto-oncogene, Src family tyrosine kinase
IRF5	interferon regulatory factor 5
PTPN22	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
STAT4	signal transducer and activator of transcription 4
TNFSF4	tumor necrosis factor (ligand) superfamily, member 4