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: 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
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.500 AlteredExpression disease BEFREE A critical step in the activation of FA pathway is the monoubiquitination of FANCD2 and its binding partner FANCI. 31219578 2019
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.500 AlteredExpression disease BEFREE MTDH, through its recently discovered role as an RNA binding protein, regulates expression of FANCD2 and FANCI, two components of the Fanconi anemia complementation group (FA) that play critical roles in interstrand crosslink damage induced by platinum compounds. 31477281 2019
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.500 Biomarker disease BEFREE Moreover, rescue assays by utilizing different BRMS1 constructs suggested that BRMS1‑FANCI interaction is necessary for the regulatory role of BRMS1 in the FA pathway. 30365131 2019
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.500 Biomarker disease BEFREE Phosphorylation of FANCD2 Inhibits the FANCD2/FANCI Complex and Suppresses the Fanconi Anemia Pathway in the Absence of DNA Damage. 31167143 2019
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.500 Biomarker disease BEFREE We uncovered a novel function of Fanconi anemia (FA) protein FANCM in the protection of CFSs that is independent of the FA core complex and the FANCI-FANCD2 complex. 30022024 2018
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.500 Biomarker disease BEFREE Carcinogenesis resulting from a dysregulated FA pathway is multifaceted, as FA proteins monitor multiple complementary genome-surveillance checkpoints throughout interphase, where monoubiquitylation of the FANCD2-FANCI heterodimer by the FA core complex promotes recruitment of DNA repair effectors to chromatin lesions to resolve DNA damage and mitosis. 29376519 2018
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.500 Biomarker disease BEFREE FANCD2-FANCI-associated nuclease (FAN1) is a conserved structure-specific nuclease that unhooks DNA ICLs independently of the Fanconi anemia pathway. 29514982 2018