BRCA2, BRCA2 DNA repair associated, 675

N. diseases: 656; N. variants: 3066
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP D1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1838457
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP D1
FANCONI ANEMIA, COMPLEMENTATION GROUP D1 		0.920 CausalMutation disease CLINVAR Essential Role of BRCA2 in Ovarian Development and Function. 30207912 2018
CUI: C1838457
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP D1
FANCONI ANEMIA, COMPLEMENTATION GROUP D1 		0.920 Biomarker disease CLINGEN Fanconi anaemia and cancer: an intricate relationship. 29376519 2018
CUI: C1838457
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP D1
FANCONI ANEMIA, COMPLEMENTATION GROUP D1 		0.920 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: C1838457
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP D1
FANCONI ANEMIA, COMPLEMENTATION GROUP D1 		0.920 Biomarker disease GENOMICS_ENGLAND Biallelic BRCA2 mutations in two black South African children with Fanconi anaemia. 28185119 2017
CUI: C1838457
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP D1
FANCONI ANEMIA, COMPLEMENTATION GROUP D1 		0.920 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: C1838457
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP D1
FANCONI ANEMIA, COMPLEMENTATION GROUP D1 		0.920 Biomarker disease GENOMICS_ENGLAND A novel splice site mutation in the noncoding region of BRCA2: implications for Fanconi anemia and familial breast cancer diagnostics. 24395671 2014
CUI: C1838457
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP D1
FANCONI ANEMIA, COMPLEMENTATION GROUP D1 		0.920 Biomarker disease GENOMICS_ENGLAND ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
CUI: C1838457
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP D1
FANCONI ANEMIA, COMPLEMENTATION GROUP D1 		0.920 GeneticVariation disease UNIPROT A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activity. 23108138 2013
CUI: C1838457
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP D1
FANCONI ANEMIA, COMPLEMENTATION GROUP D1 		0.920 GeneticVariation disease UNIPROT A comprehensive functional characterization of BRCA2 variants associated with Fanconi anemia using mouse ES cell-based assay. 21719596 2011
CUI: C1838457
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP D1
FANCONI ANEMIA, COMPLEMENTATION GROUP D1 		0.920 GeneticVariation disease UNIPROT Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2. 16825431 2007
CUI: C1838457
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP D1
FANCONI ANEMIA, COMPLEMENTATION GROUP D1 		0.920 GermlineCausalMutation disease ORPHANET Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2. 16825431 2007
CUI: C1838457
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP D1
FANCONI ANEMIA, COMPLEMENTATION GROUP D1 		0.920 Biomarker disease GENOMICS_ENGLAND Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2. 16825431 2007
CUI: C1838457
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP D1
FANCONI ANEMIA, COMPLEMENTATION GROUP D1 		0.920 Biomarker disease CLINGEN Hematopoietic dysfunction in a mouse model for Fanconi anemia group D1. 16859999 2006
CUI: C1838457
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP D1
FANCONI ANEMIA, COMPLEMENTATION GROUP D1 		0.920 Biomarker disease MGD Hematopoietic dysfunction in a mouse model for Fanconi anemia group D1. 16859999 2006
CUI: C1838457
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP D1
FANCONI ANEMIA, COMPLEMENTATION GROUP D1 		0.920 GermlineCausalMutation disease ORPHANET Biallelic BRCA2 mutations are associated with multiple malignancies in childhood including familial Wilms tumour. 15689453 2005
CUI: C1838457
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP D1
FANCONI ANEMIA, COMPLEMENTATION GROUP D1 		0.920 GeneticVariation disease UNIPROT Association of biallelic BRCA2/FANCD1 mutations with spontaneous chromosomal instability and solid tumors of childhood. 14670928 2004
CUI: C1838457
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP D1
FANCONI ANEMIA, COMPLEMENTATION GROUP D1 		0.920 Biomarker disease CLINGEN Association of biallelic BRCA2/FANCD1 mutations with spontaneous chromosomal instability and solid tumors of childhood. 14670928 2004
CUI: C1838457
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP D1
FANCONI ANEMIA, COMPLEMENTATION GROUP D1 		0.920 GermlineCausalMutation disease ORPHANET Association of biallelic BRCA2/FANCD1 mutations with spontaneous chromosomal instability and solid tumors of childhood. 14670928 2004
CUI: C1838457
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP D1
FANCONI ANEMIA, COMPLEMENTATION GROUP D1 		0.920 Biomarker disease CLINGEN Germline mutations in BRCA2: shared genetic susceptibility to breast cancer, early onset leukemia, and Fanconi anemia. 15070707 2004
CUI: C1838457
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP D1
FANCONI ANEMIA, COMPLEMENTATION GROUP D1 		0.920 Biomarker disease BEFREE The breast cancer susceptibility gene BRCA2 was recently found to be associated with Fanconi anemia complementation group D1 (FA-D1). 14559878 2003
CUI: C1838457
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP D1
FANCONI ANEMIA, COMPLEMENTATION GROUP D1 		0.920 Biomarker disease GENOMICS_ENGLAND Biallelic inactivation of BRCA2 in Fanconi anemia. 12065746 2002
CUI: C1838457
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP D1
FANCONI ANEMIA, COMPLEMENTATION GROUP D1 		0.920 Biomarker disease CLINGEN Cancer susceptibility of mice with a homozygous deletion in the COOH-terminal domain of the Brca2 gene. 11861370 2002
CUI: C1838457
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP D1
FANCONI ANEMIA, COMPLEMENTATION GROUP D1 		0.920 GeneticVariation disease UNIPROT Biallelic inactivation of BRCA2 in Fanconi anemia. 12065746 2002
CUI: C1838457
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP D1
FANCONI ANEMIA, COMPLEMENTATION GROUP D1 		0.920 Biomarker disease CLINGEN Biallelic inactivation of BRCA2 in Fanconi anemia. 12065746 2002
CUI: C1838457
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP D1
FANCONI ANEMIA, COMPLEMENTATION GROUP D1 		0.920 Biomarker disease GENOMICS_ENGLAND