vascular neoplasm Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A benign or malignant neoplasm (tumour) originating in the vascular system. (Human Phenotype Ontology, HP_0100742)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0100742
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Genes

50 genes associated with the vascular neoplasm 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
ASXL1 additional sex combs like transcriptional regulator 1
BRAF B-Raf proto-oncogene, serine/threonine kinase
CREBBP CREB binding protein
CTSA cathepsin A
DHCR7 7-dehydrocholesterol reductase
DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4
ENG endoglin
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FLT4 fms-related tyrosine kinase 4
GDF2 growth differentiation factor 2
GLI3 GLI family zinc finger 3
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GPC6 glypican 6
HOXD13 homeobox D13
HRAS Harvey rat sarcoma viral oncogene homolog
IDH1 isocitrate dehydrogenase 1 (NADP+), soluble
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial
KDR kinase insert domain receptor
KIF1B kinesin family member 1B
KLLN killin, p53-regulated DNA replication inhibitor
KRAS Kirsten rat sarcoma viral oncogene homolog
MAMLD1 mastermind-like domain containing 1
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MTM1 myotubularin 1
NDP Norrie disease (pseudoglioma)
NOTCH1 notch 1
OFD1 oral-facial-digital syndrome 1
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PTEN phosphatase and tensin homolog
PTH1R parathyroid hormone 1 receptor
RASA1 RAS p21 protein activator (GTPase activating protein) 1
RECQL4 RecQ protein-like 4
RET ret proto-oncogene
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
SEC23A Sec23 homolog A (S. cerevisiae)
SETBP1 SET binding protein 1
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SMAD4 SMAD family member 4
SRD5A3 steroid 5 alpha-reductase 3
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase