mucosal telangiectasiae Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Telangiectasia of the mucosa, the mucous membranes which are involved in absorption and secretion that line cavities that are exposed to the external environment and internal organs. (Human Phenotype Ontology, HP_0100579)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0100579
Similar Terms
Downloads & Tools

Genes

26 genes associated with the mucosal telangiectasiae phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACVRL1 activin A receptor type II-like 1
AKT1 v-akt murine thymoma viral oncogene homolog 1
ATM ATM serine/threonine kinase
CAV1 caveolin 1, caveolae protein, 22kDa
CCR6 chemokine (C-C motif) receptor 6
CTGF connective tissue growth factor
CTSA cathepsin A
ENG endoglin
GDF2 growth differentiation factor 2
GLA galactosidase, alpha
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
IRF5 interferon regulatory factor 5
KIAA0319L KIAA0319-like
KLLN killin, p53-regulated DNA replication inhibitor
LBR lamin B receptor
MASP1 mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
NAGA N-acetylgalactosaminidase, alpha-
PCNA proliferating cell nuclear antigen
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PTEN phosphatase and tensin homolog
SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
SDHC succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein
SETX senataxin
SMAD4 SMAD family member 4