Mucosal Telangiectasiae Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
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 https://www.disgenet.org/browser/0/1/0/C4022020
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Genes

16 genes associated with the disease Mucosal Telangiectasiae in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
AKT1 v-akt murine thymoma viral oncogene homolog 1
ATM ATM serine/threonine kinase
CAV1 caveolin 1, caveolae protein, 22kDa
CCN2 cellular communication network factor 2
CCR6 chemokine (C-C motif) receptor 6
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
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
SEC23B Sec23 homolog B (S. cerevisiae)