Disease Term Disease ID Gene Symbol Classification References Source
Breast Carcinoma C0678222 ATM Causal Pathogenic evidence from ClinVar - ClinVar
BARD1 Causal Pathogenic evidence from ClinVar - ClinVar
BRCA1 Causal Pathogenic evidence from ClinVar 7894491, 10788334, 15750629, 15894690, 18066063, 20135344, 20941507, 21781528, 22614657, 26379698, 26629949, 28825726 ClinVar
BRCA2 Causal Pathogenic evidence from ClinVar 20135344, 22614657, 23535729, 25751625, 27197191, 28825726, 29059683 ClinVar
BRIP1 Causal Pathogenic evidence from ClinVar - ClinVar
CHEK2 Causal Pathogenic evidence from ClinVar 11967536, 12690581, 15122511, 18297428, 25751625, 29059683 ClinVar
MLH1 Causal Pathogenic evidence from ClinVar - ClinVar
MRE11 Causal Pathogenic evidence from ClinVar - ClinVar
MSH2 Causal Pathogenic evidence from ClinVar - ClinVar
MSH6 Causal Pathogenic evidence from ClinVar - ClinVar
NBN Causal Pathogenic evidence from ClinVar - ClinVar
PALB2 Causal Pathogenic evidence from ClinVar 20122277, 20412113, 21182766, 21285249, 23448497, 28825726 ClinVar
PTEN Causal Pathogenic evidence from ClinVar 18066063, 19685490, 19968660, 20400965 ClinVar
RAD50 Causal Pathogenic evidence from ClinVar - ClinVar
RAD51D Causal Pathogenic evidence from ClinVar - ClinVar
TP53 Causal Pathogenic evidence from ClinVar 15802278, 16968874, 17388661, 26192916, 26229107, 30381462 ClinVar
AAGAB Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ABCA8 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 29059683 -
ABCB1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22311042 -
ABCC1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25078270 -
ABCF1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 29059683 -
ABCG2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10930538 -
ABL1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20234815 -
ACHE Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23063927 -
ACO2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 29059683 -
ACTA2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25330770 -
ACVR1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23180569 -
ADAM10 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16583263 -
ADAM29 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23535729, 25751625, 29059683 -
ADAM30 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 29059683 -
ADAM33 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 30226539 -
ADAMTS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23289900 -
ADAMTS7P3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23354978 -
ADAR Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 28188287 -
ADCY3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 29059683 -
ADCY8 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 29059683 -
ADCY9 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 29058716, 29059683 -
ADSS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 29059683 -
AFP Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 18497072 -
AGR2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20531310 -
AHR Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21515334, 22296396 -
AHRR Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 29059683 -
AKAP12 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16298037 -
AKAP9 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25751625, 29059683 -
AKT1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20228224 -
AKT2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19075277 -
ALDOA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20562527 -
ALK Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 29915430 -
ALKBH8 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27811057 -
Sporadic Breast Carcinoma C1336076 BRCA1 Causal Pathogenic evidence from ClinVar - ClinVar