FANCI, FA complementation group I, 55215

N. diseases: 147; N. variants: 30
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.020 Biomarker disease BEFREE These two arms include the upstream FA pathway, which culminates in the monoubiquitination of FANCD2 and FANCI, and downstream breast cancer (BRCA)-associated proteins that interact in protein complexes. 27277787 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.020 Biomarker disease BEFREE Mutational analysis of FANCL, FANCM and the recently identified FANCI suggests that among the 13 known Fanconi Anemia genes, only FANCD1/BRCA2 plays a major role in high-risk breast cancer predisposition. 19737859 2009