FANCI, FA complementation group I, 55215

N. diseases: 147; N. variants: 30
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP I ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1836861
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP I
FANCONI ANEMIA, COMPLEMENTATION GROUP I 		0.710 Biomarker disease BEFREE We identified two genes, the Bloom helicase (BLM) and Fanconi anemia complementation group I (FANCI), that have both increased DNA copy number and gene expression in the platinum-sensitive cases. 29452344 2018
CUI: C1836861
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP I
FANCONI ANEMIA, COMPLEMENTATION GROUP I 		0.710 GeneticVariation disease CLINVAR Novel FANCI mutations in Fanconi anemia with VACTERL association. 26590883 2016
CUI: C1836861
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP I
FANCONI ANEMIA, COMPLEMENTATION GROUP I 		0.710 GeneticVariation disease CLINVAR Finnish Fanconi anemia mutations and hereditary predisposition to breast and prostate cancer. 24989076 2015
CUI: C1836861
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP I
FANCONI ANEMIA, COMPLEMENTATION GROUP I 		0.710 GeneticVariation disease CLINVAR Diagnosis of fanconi anemia: mutation analysis by next-generation sequencing. 22720145 2012
CUI: C1836861
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP I
FANCONI ANEMIA, COMPLEMENTATION GROUP I 		0.710 GeneticVariation disease CLINVAR First systematic experience of preimplantation genetic diagnosis for de-novo mutations. 21324748 2011
CUI: C1836861
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP I
FANCONI ANEMIA, COMPLEMENTATION GROUP I 		0.710 Biomarker disease GENOMICS_ENGLAND How the fanconi anemia pathway guards the genome. 19686080 2009
CUI: C1836861
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP I
FANCONI ANEMIA, COMPLEMENTATION GROUP I 		0.710 GeneticVariation disease CLINVAR Genetic subtyping of Fanconi anemia by comprehensive mutation screening. 17924555 2008
CUI: C1836861
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP I
FANCONI ANEMIA, COMPLEMENTATION GROUP I 		0.710 GeneticVariation disease CLINVAR Identification of the Fanconi anemia complementation group I gene, FANCI. 17452773 2007
CUI: C1836861
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP I
FANCONI ANEMIA, COMPLEMENTATION GROUP I 		0.710 GeneticVariation disease UNIPROT Identification of the Fanconi anemia complementation group I gene, FANCI. 17452773 2007
CUI: C1836861
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP I
FANCONI ANEMIA, COMPLEMENTATION GROUP I 		0.710 GeneticVariation disease UNIPROT Identification of the FANCI protein, a monoubiquitinated FANCD2 paralog required for DNA repair. 17412408 2007
CUI: C1836861
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP I
FANCONI ANEMIA, COMPLEMENTATION GROUP I 		0.710 Biomarker disease GENOMICS_ENGLAND Identification of the Fanconi anemia complementation group I gene, FANCI. 17452773 2007
CUI: C1836861
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP I
FANCONI ANEMIA, COMPLEMENTATION GROUP I 		0.710 GeneticVariation disease UNIPROT FANCI is a second monoubiquitinated member of the Fanconi anemia pathway. 17460694 2007
CUI: C1836861
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP I
FANCONI ANEMIA, COMPLEMENTATION GROUP I 		0.710 GeneticVariation disease CLINVAR FANCI is a second monoubiquitinated member of the Fanconi anemia pathway. 17460694 2007
CUI: C1836861
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP I
FANCONI ANEMIA, COMPLEMENTATION GROUP I 		0.710 Biomarker disease GENOMICS_ENGLAND Positional cloning of a novel Fanconi anemia gene, FANCD2. 11239453 2001
CUI: C1836861
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP I
FANCONI ANEMIA, COMPLEMENTATION GROUP I 		0.710 Biomarker disease CTD_human
CUI: C1836861
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP I
FANCONI ANEMIA, COMPLEMENTATION GROUP I 		0.710 Biomarker disease GENOMICS_ENGLAND
CUI: C1836861
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP I
FANCONI ANEMIA, COMPLEMENTATION GROUP I 		0.710 Biomarker disease GENOMICS_ENGLAND
CUI: C1836861
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP I
FANCONI ANEMIA, COMPLEMENTATION GROUP I 		0.710 CausalMutation disease CLINVAR