BARD1, BRCA1 associated RING domain 1, 580

N. diseases: 75; N. variants: 176
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		1.000 Biomarker disease MGD
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		1.000 Biomarker disease CTD_human
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		1.000 GeneticVariation disease UNIPROT
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.500 Biomarker disease HPO
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.500 Biomarker disease CTD_human
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.450 Biomarker group CTD_human
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.450 CausalMutation group CLINVAR
CUI: C0153567
Disease: Uterine Cancer
Uterine Cancer 		0.320 GeneticVariation disease UNIPROT
CUI: C1257931
Disease: Mammary Neoplasms, Human
Mammary Neoplasms, Human 		0.300 Biomarker disease CTD_human
CUI: C1518693
Disease: Clear cell adenocarcinoma of ovary
Clear cell adenocarcinoma of ovary 		0.300 GeneticVariation disease UNIPROT
CUI: C4704874
Disease: Mammary Carcinoma, Human
Mammary Carcinoma, Human 		0.300 Biomarker disease CTD_human
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.200 GeneticVariation disease CLINVAR
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.200 Biomarker disease HPO
CUI: C1514428
Disease: Primary peritoneal carcinoma
Primary peritoneal carcinoma 		0.110 Biomarker disease HPO
CUI: C0025202
Disease: melanoma
melanoma 		0.100 Biomarker disease HPO
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm 		0.100 Biomarker disease HPO
CUI: C0281842
Disease: Abnormality of the fallopian tube
Abnormality of the fallopian tube 		0.100 Biomarker phenotype HPO
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.100 Biomarker disease HPO
CUI: C0544886
Disease: Somatic mutation
Somatic mutation 		0.100 Biomarker phenotype HPO
CUI: C2348819
Disease: Triple-Negative Breast Cancer Finding
Triple-Negative Breast Cancer Finding 		0.100 CausalMutation phenotype CLINVAR
CUI: C3469522
Disease: BREAST CANCER, SUSCEPTIBILITY TO
BREAST CANCER, SUSCEPTIBILITY TO 		0.100 CausalMutation phenotype CLINVAR
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.400 CausalMutation disease CLINVAR BARD1 nonsense variant c.1921C>T in a patient with recurrent breast cancer. 28174632 2017
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR BARD1 nonsense variant c.1921C>T in a patient with recurrent breast cancer. 28174632 2017
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.100 GeneticVariation group BEFREE Cancer predisposing missense and protein truncating BARD1 mutations in non-BRCA1 or BRCA2 breast cancer families. 20077502 2010