Hereditary cancer-predisposing syndrome Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
External Link http://purl.bioontology.org/ontology/SNOMEDCT/699346009
Similar Terms
Downloads & Tools

Genes

35 genes associated with the Hereditary cancer-predisposing syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
APC adenomatous polyposis coli
ATM ATM serine/threonine kinase
BARD1 BRCA1 associated RING domain 1
BLM Bloom syndrome, RecQ helicase-like
BMPR1A bone morphogenetic protein receptor, type IA
BRCA1 breast cancer 1, early onset
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
CDH1 cadherin 1, type 1, E-cadherin (epithelial)
CDKN2A cyclin-dependent kinase inhibitor 2A
CHEK2 checkpoint kinase 2
FAM175A family with sequence similarity 175, member A
FANCC Fanconi anemia, complementation group C
FLCN folliculin
MAX MYC associated factor X
MLH1 mutL homolog 1
MRE11A MRE11 meiotic recombination 11 homolog A (S. cerevisiae)
MSH2 mutS homolog 2
MSH6 mutS homolog 6
MUTYH mutY homolog
NBN nibrin
NF1 neurofibromin 1
PALB2 partner and localizer of BRCA2
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
PTEN phosphatase and tensin homolog
RAD50 RAD50 homolog (S. cerevisiae)
RAD51C RAD51 paralog C
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
SMAD4 SMAD family member 4
STK11 serine/threonine kinase 11
TMEM127 transmembrane protein 127
TP53 tumor protein p53
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
XRCC2 X-ray repair complementing defective repair in Chinese hamster cells 2