abnormality of the endocardium Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the endocardium. (Human Phenotype Ontology, HP_0004306)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0004306
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Genes

41 genes associated with the abnormality of the endocardium phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6
ACTN2 actinin, alpha 2
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BRAF B-Raf proto-oncogene, serine/threonine kinase
C4A complement component 4A (Rodgers blood group)
CARD9 caspase recruitment domain family, member 9
CLEC7A C-type lectin domain family 7, member A
CLIP2 CAP-GLY domain containing linker protein 2
CSRP3 cysteine and glycine-rich protein 3 (cardiac LIM protein)
ELN elastin
GJA5 gap junction protein, alpha 5, 40kDa
GLA galactosidase, alpha
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HLA-B major histocompatibility complex, class I, B
IDUA iduronidase, alpha-L-
IL10 interleukin 10
IL12B interleukin 12B
IL12RB2 interleukin 12 receptor, beta 2
IL17F interleukin 17F
IL17RA interleukin 17 receptor A
IL23R interleukin 23 receptor
LIMK1 LIM domain kinase 1
MEFV Mediterranean fever
MLX MLX, MAX dimerization protein
MYH7 myosin, heavy chain 7, cardiac muscle, beta
MYL3 myosin, light chain 3, alkali; ventricular, skeletal, slow
NOD2 nucleotide-binding oligomerization domain containing 2
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RFC2 replication factor C (activator 1) 2, 40kDa
SLC22A5 solute carrier family 22 (organic cation/carnitine transporter), member 5
SP110 SP110 nuclear body protein
STAT1 signal transducer and activator of transcription 1, 91kDa
STAT4 signal transducer and activator of transcription 4
TAZ tafazzin
TBL2 transducin (beta)-like 2
TLR4 toll-like receptor 4
TRAF3IP2 TRAF3 interacting protein 2