BRCA2, BRCA2 DNA repair associated, 675

N. diseases: 656; N. variants: 3066
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.720 Biomarker disease GENOMICS_ENGLAND Consensus for genes to be included on cancer panel tests offered by UK genetics services: guidelines of the UK Cancer Genetics Group. 29661970 2018
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.720 GeneticVariation disease BEFREE Fanconi anemia, complementation group D1 with bi-allelic FANCD1 (BRCA2) mutations, is a very rare genetic disorder characterized by early onset of childhood malignancies, including acute leukemia, brain cancer and nephroblastoma. 26657402 2016
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.720 Biomarker disease GENOMICS_ENGLAND ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.720 Biomarker disease BEFREE Bi-allelic germline mutations of the Fanconi anemia (FA) genes, PALB2/FANCN and BRCA2/FANCD1, have been reported in a few Wilms tumor (WT) patients with an atypical FA phenotype. 20589654 2010
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.720 Biomarker disease GENOMICS_ENGLAND Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2. 16825431 2007
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.720 GeneticVariation disease ORPHANET Biallelic BRCA2 mutations are associated with multiple malignancies in childhood including familial Wilms tumour. 15689453 2005
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.720 Biomarker disease CTD_human
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.720 CausalMutation disease CLINVAR
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.720 Biomarker disease HPO