Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
0.600 GermlineCausalMutation ORPHANET Previously, two adult patients with biallelic pathogenic variant in Breast Cancer 1 gene (BRCA1) had been identified in Fanconi Anemia-like condition. 29133208

2018

Entrez Id: 5888
Gene Symbol: RAD51
RAD51
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
0.600 GermlineCausalMutation ORPHANET Here we report on a de novo g.41022153G>A; p.Ala293Thr (NM_002875) missense mutation in one allele of the homologous recombination DNA repair gene RAD51 in an FA-like patient. 26681308

2015

Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
0.600 GermlineCausalMutation ORPHANET Further biochemical and functional analysis demonstrated that the identified FA-causing ERCC4 mutations strongly disrupt the function of XPF in DNA ICL repair without severely compromising nucleotide excision repair. 23623386

2013

Entrez Id: 29089
Gene Symbol: UBE2T
UBE2T
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
0.590 GermlineCausalMutation ORPHANET Here we identified two unrelated FA-affected individuals, each harboring biallelic mutations in UBE2T. 26046368

2015

Entrez Id: 7516
Gene Symbol: XRCC2
XRCC2
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
0.540 GermlineCausalMutation ORPHANET Thus, XRCC2 acts late in the FA-BRCA pathway as also suggested by hypersensitivity of 900677A cells to ionising radiation. 27208205

2016

Entrez Id: 7516
Gene Symbol: XRCC2
XRCC2
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
0.540 GermlineCausalMutation ORPHANET Conclusion This study implicates XRCC2 in the pathogenesis of FA and calls for further investigation of the potential contribution of XRCC2 mutations to the overall mutational load of FA. 22232082

2012

Entrez Id: 10459
Gene Symbol: MAD2L2
MAD2L2
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
0.510 GermlineCausalMutation ORPHANET Finally, silencing Rev7 in primary hematopoietic cells impaired progenitor function, suggesting that the DNA repair defect underlies the development of BMF in FA. 27500492

2016

Entrez Id: 55159
Gene Symbol: RFWD3
RFWD3
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
0.320 GermlineCausalMutation ORPHANET Although RFWD3 mutations have thus far been detected in a single child with FA, we propose RFWD3 as an FA gene, FANCW, supported by cellular paradigm systems and an animal model. 28691929

2017