teleangiectasia of the skin Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Presence of small, permanently dilated blood vessels near the surface of the skin, visible as small focal red lesions. (Human Phenotype Ontology, HP_0100585)
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51 genes associated with the teleangiectasia of the skin 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
ACVRL1 activin A receptor type II-like 1
ANTXR2 anthrax toxin receptor 2
ATM ATM serine/threonine kinase
BLM Bloom syndrome, RecQ helicase-like
CAV1 caveolin 1, caveolae protein, 22kDa
CCR6 chemokine (C-C motif) receptor 6
COL3A1 collagen, type III, alpha 1
CTC1 CTS telomere maintenance complex component 1
CTGF connective tissue growth factor
CYLD cylindromatosis (turban tumor syndrome)
DKC1 dyskeratosis congenita 1, dyskerin
ENG endoglin
FERMT1 fermitin family member 1
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GDF2 growth differentiation factor 2
GLA galactosidase, alpha
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IRF5 interferon regulatory factor 5
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KIAA0319L KIAA0319-like
LBR lamin B receptor
LIG4 ligase IV, DNA, ATP-dependent
NAGA N-acetylgalactosaminidase, alpha-
NHP2 NHP2 ribonucleoprotein
NOP10 NOP10 ribonucleoprotein
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
POLE polymerase (DNA directed), epsilon, catalytic subunit
POLH polymerase (DNA directed), eta
PORCN porcupine homolog (Drosophila)
PRDM16 PR domain containing 16
PTEN phosphatase and tensin homolog
RAB40AL RAB40A, member RAS oncogene family-like
RASA1 RAS p21 protein activator (GTPase activating protein) 1
RTEL1 regulator of telomere elongation helicase 1
SKI SKI proto-oncogene
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SLC37A4 solute carrier family 37 (glucose-6-phosphate transporter), member 4
SMAD4 SMAD family member 4
SOX18 SRY (sex determining region Y)-box 18
TERC telomerase RNA component
TERT telomerase reverse transcriptase
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TMC6 transmembrane channel-like 6
TMC8 transmembrane channel-like 8
USB1 U6 snRNA biogenesis 1
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
WNT10A wingless-type MMTV integration site family, member 10A
WRAP53 WD repeat containing, antisense to TP53
WRN Werner syndrome, RecQ helicase-like