telangiectasia Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001009
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Genes

79 genes associated with the telangiectasia 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
AKT1 v-akt murine thymoma viral oncogene homolog 1
ANTXR2 anthrax toxin receptor 2
ATM ATM serine/threonine kinase
ATR ATR serine/threonine kinase
BLM Bloom syndrome, RecQ helicase-like
BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase)
CAV1 caveolin 1, caveolae protein, 22kDa
CCM2 cerebral cavernous malformation 2
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
CTSA cathepsin A
CYLD cylindromatosis (turban tumor syndrome)
DDB2 damage-specific DNA binding protein 2, 48kDa
DKC1 dyskeratosis congenita 1, dyskerin
DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
ENG endoglin
ERCC2 excision repair cross-complementation group 2
ERCC6 excision repair cross-complementation group 6
FERMT1 fermitin family member 1
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GDF2 growth differentiation factor 2
GLA galactosidase, alpha
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
HFE hemochromatosis
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
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KLLN killin, p53-regulated DNA replication inhibitor
LBR lamin B receptor
LIG4 ligase IV, DNA, ATP-dependent
MASP1 mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
NAGA N-acetylgalactosaminidase, alpha-
NHP2 NHP2 ribonucleoprotein
NOP10 NOP10 ribonucleoprotein
PCNA proliferating cell nuclear antigen
PEPD peptidase D
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
POLD1 polymerase (DNA directed), delta 1, catalytic subunit
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
RECQL4 RecQ protein-like 4
RTEL1 regulator of telomere elongation helicase 1
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
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
TALDO1 transaldolase 1
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
TMEM173 transmembrane protein 173
TREX1 three prime repair exonuclease 1
USB1 U6 snRNA biogenesis 1
UVSSA UV-stimulated scaffold protein A
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
XPA xeroderma pigmentosum, complementation group A
XPC xeroderma pigmentosum, complementation group C