Rheumatic Heart Disease Gene Set

Dataset HuGE Navigator Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description A heart valve disease that is characterized by repeated inflammation with fibrinous repair. The cardinal anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords.It is caused by an autoimmune reaction to Group A beta-hemolytic streptococci (GAS) that results in valvular damage. (Human Disease Ontology, DOID_0050827)
Similar Terms
Downloads & Tools

Genes

32 genes associated with the Rheumatic Heart Disease phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Symbol Name
ACE angiotensin I converting enzyme
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AGTR1 angiotensin II receptor, type 1
C5 complement component 5
CTLA4 cytotoxic T-lymphocyte-associated protein 4
FCN2 ficolin (collagen/fibrinogen domain containing lectin) 2
GATA5 GATA binding protein 5
HLA-A major histocompatibility complex, class I, A
HLA-B major histocompatibility complex, class I, B
HLA-C major histocompatibility complex, class I, C
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
HLA-DRB3 major histocompatibility complex, class II, DR beta 3
HLA-DRB5 major histocompatibility complex, class II, DR beta 5
IL10 interleukin 10
IL1B interleukin 1, beta
IL1RN interleukin 1 receptor antagonist
IL4 interleukin 4
IL6 interleukin 6
MASP2 mannan-binding lectin serine peptidase 2
MBL2 mannose-binding lectin (protein C) 2, soluble
MEFV Mediterranean fever
NOS3 nitric oxide synthase 3 (endothelial cell)
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
TGFB1 transforming growth factor, beta 1
TLR2 toll-like receptor 2
TLR4 toll-like receptor 4
TLR5 toll-like receptor 5
TNF tumor necrosis factor
TNFAIP3 tumor necrosis factor, alpha-induced protein 3
TRAF1 TNF receptor-associated factor 1