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: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.500 Biomarker disease BEFREE Within this pathway the FA core complex operates as an ubiquitin ligase that activates the complex of FANCD2 and FANCI to coordinate DNA repair. 22036606 2011
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		0.100 Biomarker disease BEFREE Within this pathway the FA core complex operates as an ubiquitin ligase that activates the complex of FANCD2 and FANCI to coordinate DNA repair. 22036606 2011
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: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		0.100 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 AlteredExpression disease LHGDN We propose that the multiple phosphorylation of FANCI serves as a molecular switch in activation of the Fanconi anemia pathway. 18931676 2008
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.500 AlteredExpression disease BEFREE We propose that the multiple phosphorylation of FANCI serves as a molecular switch in activation of the Fanconi anemia pathway. 18931676 2008
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		0.100 AlteredExpression disease BEFREE We propose that the multiple phosphorylation of FANCI serves as a molecular switch in activation of the Fanconi anemia pathway. 18931676 2008
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: C3160738
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP D2
FANCONI ANEMIA, COMPLEMENTATION GROUP D2 		0.040 Biomarker disease BEFREE We further demonstrate that highly purified human FANCI-FANCD2 (ID2) complex binds synthetic single-stranded RNA (ssRNA) and R-loop substrates with high affinity, preferring guanine-rich sequences. 30650351 2019
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		0.010 Biomarker group BEFREE We also demonstrate that MMC-induced chromosomal anomalies are increased in SNM1B-depleted cells, and this phenotype is not further exacerbated upon depletion of either FANCD2 or another key FA protein, FANCI. 21478198 2011
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.500 Biomarker disease GENOMICS_ENGLAND To this end, the Fanconi Anemia pathway employs a unique nuclear protein complex that ubiquitinates FANCD2 and FANCI, leading to formation of DNA repair structures. 19686080 2009
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.500 Biomarker disease BEFREE To repair these lesions, the FA proteins act in a linear hierarchy: following ICL detection on chromatin, the FA core complex monoubiquitinates and recruits the central FANCI and FANCD2 proteins that subsequently coordinate ICL removal and repair of the ensuing DNA double-stranded break by homology-dependent repair (HDR). 29059323 2017
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		0.100 Biomarker disease BEFREE To repair these lesions, the FA proteins act in a linear hierarchy: following ICL detection on chromatin, the FA core complex monoubiquitinates and recruits the central FANCI and FANCD2 proteins that subsequently coordinate ICL removal and repair of the ensuing DNA double-stranded break by homology-dependent repair (HDR). 29059323 2017
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.500 GeneticVariation disease BEFREE This suggests that the VACTERL association in patients with FA may be seen in patients with FANCI mutations more often than previously recognized. 26590883 2016
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		0.100 GeneticVariation disease BEFREE This suggests that the VACTERL association in patients with FA may be seen in patients with FANCI mutations more often than previously recognized. 26590883 2016
CUI: C1735591
Disease: VACTERL Association
VACTERL Association 		0.010 GeneticVariation disease BEFREE This suggests that the VACTERL association in patients with FA may be seen in patients with FANCI mutations more often than previously recognized. 26590883 2016
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.500 Biomarker disease BEFREE This fact and novel data sustaining greater functional relevance of the three genes within the FA pathway prompted us to scrutinize all coding sequences and splicing sites of FANCI, FANCL and FANCM in 95 BRCA1/2-negative index cases from Spanish high-risk breast cancer families. 19737859 2009
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		0.100 Biomarker disease BEFREE This fact and novel data sustaining greater functional relevance of the three genes within the FA pathway prompted us to scrutinize all coding sequences and splicing sites of FANCI, FANCL and FANCM in 95 BRCA1/2-negative index cases from Spanish high-risk breast cancer families. 19737859 2009
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.120 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 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: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.500 Biomarker disease BEFREE These findings indicate that FANCI functions upstream of FA core complex recruitment independently of FANCD2, and alter the current view of the FA-BRCA pathway. 26430909 2015
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		0.100 Biomarker disease BEFREE These findings indicate that FANCI functions upstream of FA core complex recruitment independently of FANCD2, and alter the current view of the FA-BRCA pathway. 26430909 2015
CUI: C3160738
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP D2
FANCONI ANEMIA, COMPLEMENTATION GROUP D2 		0.040 Biomarker disease BEFREE The FANCI-FANCD2 (I-D) complex is considered to work with RAD51 to protect the damaged DNA in the stalled replication fork. 27694619 2016
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.500 Biomarker disease BEFREE The Fanconi anemia (FA) core complex promotes the tolerance/repair of DNA damage at stalled replication forks by catalyzing the monoubiquitination of FANCD2 and FANCI. 18851838 2008
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		0.100 Biomarker disease BEFREE The Fanconi anemia (FA) core complex promotes the tolerance/repair of DNA damage at stalled replication forks by catalyzing the monoubiquitination of FANCD2 and FANCI. 18851838 2008