Breast cancer

Disease Term Disease ID Gene Symbol Classification References Source
bilateral breast cancer C0281267 ATM Causal Pathogenic evidence from ClinVar - ClinVar
BRCA2 Causal Pathogenic evidence from ClinVar - ClinVar
PALB2 Causal Pathogenic evidence from ClinVar - ClinVar
TP53 Causal Pathogenic evidence from ClinVar - ClinVar
Breast Cancer, Familial C0346153 ATM Causal Pathogenic evidence from ClinVar 10492163, 10550055, 10999741, 11805335, 12195425 ClinVar
BARD1 Causal Pathogenic evidence from ClinVar 11278247, 11779501, 11925436, 12832489, 17081976, 18443292, 20842729, 26350354, 26720728, 28418444, 28649662 ClinVar
BRCA1 Causal Pathogenic evidence from ClinVar 9609997, 10323242, 12442275 ClinVar
BRCA2 Causal Pathogenic evidence from ClinVar 9609997, 10323242, 12442275 ClinVar
CDH1 Causal Pathogenic evidence from ClinVar 2007622, 7961105, 10074450, 17097565, 17660459, 21271559, 22850631, 23053649, 23709761, 24366306, 24733792, 26182300 ClinVar
CHEK2 Causal Pathogenic evidence from ClinVar 10710310, 10724175, 11857075, 12094328, 21542898, 21876083, 24713400, 26884562, 27595995 ClinVar
MSH2 Causal Pathogenic evidence from ClinVar 15886699, 26975740 ClinVar
MSH6 Causal Pathogenic evidence from ClinVar 11861375, 15805151, 26976419, 29345684 ClinVar
NBN Causal Pathogenic evidence from ClinVar 10802669, 11889050, 23765759, 25613900 ClinVar
PALB2 Causal Pathogenic evidence from ClinVar 16793542, 17287723, 19383810, 21285249, 23657012, 24136930, 25099575, 25225577, 25959805, 28319063 ClinVar
PMS2 Causal Pathogenic evidence from ClinVar 7628019, 17148452, 25512458, 29345684 ClinVar
RAD51C Causal Pathogenic evidence from ClinVar 20400964, 21980511, 22167183, 22451500, 22538716, 25292187, 28418444 ClinVar
RAD51D Causal Pathogenic evidence from ClinVar 10749867, 11751635, 15781618, 17942895, 21822267, 25613900, 27924006, 28418444 ClinVar
Malignant neoplasm of breast C0006142 ATM Causal Pathogenic evidence from ClinVar 19781682 ClinVar
BARD1 Causal Pathogenic evidence from ClinVar 11943588, 17550235, 17848578, 20077502, 21344236, 24549055, 25428789, 25452441, 25503501, 26315354, 26534844, 26546047, 26556299, 26681312, 26738429, 26786923, 27433846 ClinVar
BRCA1 Causal Pathogenic evidence from ClinVar 7545954, 7894491, 7894493, 7939630, 8554067, 8723683, 8776600, 9482581, 9609997, 9760198, 10323242, 10788334, 11114888, 11301010, 12427738, 12442275, 12938098, 14722926, 15133502, 15750629, 15894690, 18066063, 18285836, 20135344, 20941507, 21473589, 21781528, 22614657, 23867111, 26379698, 26629949, 28364669, 28825726, 29661970 ClinVar
BRCA2 Causal Pathogenic evidence from ClinVar 8640237, 9150152, 9609997, 9654203, 9971877, 10399947, 10978364, 11139248, 11149425, 11241844, 11948477, 12145750, 12373604, 12442274, 12442275, 12569143, 12938098, 14722926, 15026808, 15172753, 15365993, 16793542, 16825431, 20135344, 22614657, 23108138, 23535729, 23788249, 24013206, 28825726, 29661970 ClinVar
BRIP1 Causal Pathogenic evidence from ClinVar 11301010, 14983014, 16116423, 16280053, 17033622, 18628483, 20159562, 20616022, 21127055, 21345144, 21964575, 22006311, 25058500, 25186627, 26270727, 26315354, 26681312, 26720728, 26824983, 26921362, 27433846, 28152038, 28709830, 29922827 ClinVar
CDH1 Causal Pathogenic evidence from ClinVar 17520682, 19839049, 23921149, 24014025 ClinVar
CHEK2 Causal Pathogenic evidence from ClinVar 11053450, 11298456, 11390408, 11571648, 11719428, 11967536, 12049740, 12094328, 12454775, 12533788, 12610780, 12690581, 12855706, 12909615, 15095295, 15122511, 15239132, 15361853, 15492928, 15535844, 15649950, 15810020, 16574953, 16835864, 16982735, 17085682, 17721994, 18004398, 18058223, 18085035, 18172190, 18297428, 18571837, 18725978, 19338683, 19768534, 19876921, 21244692, 21618645, 21807500, 21876083, 22058428, 22114986, 22419737, 22527104, 22811390, 22994785, 23296741, 23334666, 23713947, 24506336, 24549055, 24556621, 24713400, 24728327, 24763289, 24879340, 24880342, 25318351, 25330149, 25503501, 25525159, 25583358, 25619829, 25980754, 26023681, 26506619, 26556299, 26681312, 26822949, 26976419, 27028851, 27067391, 27153395, 27433846, 27510020, 27553368, 27595995, 27616075, 27696107, 27708748, 27751358, 27798748, 28125075, 28386063, 28503720, 28608266, 29922827, 29945567, 30128536, 30256826 ClinVar
MSH2 Causal Pathogenic evidence from ClinVar - ClinVar
MSH6 Causal Pathogenic evidence from ClinVar - ClinVar
NBN Causal Pathogenic evidence from ClinVar 14684699 ClinVar
PALB2 Causal Pathogenic evidence from ClinVar 16793542, 17200668, 17200671, 17200672, 17287723, 18053174, 18302019, 18446436, 18628482, 19264984, 19423707, 19584259, 19609323, 19863560, 20122277, 20153123, 20412113, 20852946, 20927582, 21165770, 21182766, 21184274, 21285249, 21365267, 21409391, 21618343, 21932393, 21947752, 22006311, 22241545, 23110154, 23302520, 23341105, 23448497, 23471749, 23824750, 23934222, 23977390, 24136930, 24206657, 24415441, 24448499, 24556621, 24556926, 24728327, 24763289, 24949998, 24998779, 25099575, 25186627, 25225577, 25337758, 25356972, 25428789, 25452441, 25525159, 25575445, 25794774, 25897114, 25980754, 26270727, 26283626, 26296701, 26315354, 26534844, 26641009, 26681312, 26689913, 26720728, 26757417, 26786923, 26898890, 26911350, 26976419, 27106063, 27153395, 27433846, 27631815, 27648926, 28194609, 28319063, 28678401, 28724667, 28779002, 28825726, 29263802, 29922827 ClinVar
PMS2 Causal Pathogenic evidence from ClinVar - ClinVar
PTEN Causal Pathogenic evidence from ClinVar 18066063, 19685490, 19968660, 20400965 ClinVar
RAD51C Causal Pathogenic evidence from ClinVar 20400964, 28825726 ClinVar
TP53 Causal Pathogenic evidence from ClinVar 15802278, 16968874, 17388661, 26192916, 26229107, 30381462 ClinVar
ABCA3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ABCA4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ABCB1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22311042 -
ABCB10 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ABCB6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ABCB8 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ABCC1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25078270 -
ABCG2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10930538 -
ABHD12B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ABHD8 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20852631 -
ABL1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20234815 -
ABRAXAS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22357538, 25105795 -
ACADM Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ACAP1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ACCS Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
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 - -
Breast cancer, lobular C3549742 CDH1 Causal Pathogenic evidence from ClinVar - ClinVar