Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
FANCONI ANEMIA, COMPLEMENTATION GROUP N
0.410 CausalMutation disease CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868 2015
FANCONI ANEMIA, COMPLEMENTATION GROUP N
0.410 Biomarker disease BEFREE Fanconi anemia (FA) associated genes [FANCA, -B, -C, FANCD1(BRCA2), -D2, -E, -F, -G, -I, -L, -M, FANCN (PALB2), FANCJ(BRIP1) and FA-linked BRCA1] encode proteins of DNA damage response pathways mutated in FA patients. 21567085 2011
FANCONI ANEMIA, COMPLEMENTATION GROUP N
0.410 CausalMutation disease CLINVAR PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. 17200668 2007
FANCONI ANEMIA, COMPLEMENTATION GROUP N
0.410 CausalMutation disease CLINVAR Fanconi anemia is associated with a defect in the BRCA2 partner PALB2. 17200672 2007
FANCONI ANEMIA, COMPLEMENTATION GROUP N
0.410 CausalMutation disease CLINVAR Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer. 17200671 2007
FANCONI ANEMIA, COMPLEMENTATION GROUP N
0.410 Biomarker disease CTD_human