Telangiectasia Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C1868184
Similar Terms
Downloads & Tools

Genes

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

Symbol Name
ACTA2 actin, alpha 2, smooth muscle, aorta
ACVRL1 activin A receptor type II-like 1
ATM ATM serine/threonine kinase
ATR ATR serine/threonine kinase
BMP2 bone morphogenetic protein 2
BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase)
CCM2 cerebral cavernous malformation 2
CNTF ciliary neurotrophic factor
DDB2 damage-specific DNA binding protein 2, 48kDa
DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
ENG endoglin
EPHB4 EPH receptor B4
ERCC2 excision repair cross-complementation group 2
ERCC6 excision repair cross-complementation group 6
F8 coagulation factor VIII, procoagulant component
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GDF2 growth differentiation factor 2
GSTP1 glutathione S-transferase pi 1
HFE hemochromatosis
HPGDS hematopoietic prostaglandin D synthase
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
MRE11 MRE11 homolog, double strand break repair nuclease
NAGA N-acetylgalactosaminidase, alpha-
PGAP2 post-GPI attachment to proteins 2
PGAP3 post-GPI attachment to proteins 3
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
PIGO phosphatidylinositol glycan anchor biosynthesis, class O
PIGV phosphatidylinositol glycan anchor biosynthesis, class V
PIGW phosphatidylinositol glycan anchor biosynthesis, class W
PIGY phosphatidylinositol glycan anchor biosynthesis, class Y
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta
PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
PLXNA2 plexin A2
POLD1 polymerase (DNA directed), delta 1, catalytic subunit
POLH polymerase (DNA directed), eta
PORCN porcupine homolog (Drosophila)
PRDM16 PR domain containing 16
PTEN phosphatase and tensin homolog
RECQL4 RecQ protein-like 4
RERE arginine-glutamic acid dipeptide (RE) repeats
RNF213 ring finger protein 213
SKI SKI proto-oncogene
SMAD4 SMAD family member 4
SOX18 SRY (sex determining region Y)-box 18
STING1 stimulator of interferon response cGAMP interactor 1
TALDO1 transaldolase 1
TGFB1 transforming growth factor, beta 1
TREX1 three prime repair exonuclease 1
UVSSA UV-stimulated scaffold protein A
XPA xeroderma pigmentosum, complementation group A
XPC xeroderma pigmentosum, complementation group C