FANCE, FA complementation group E, 2178

N. diseases: 144; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3160739
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP E
FANCONI ANEMIA, COMPLEMENTATION GROUP E 		0.710 AlteredExpression disease BEFREE Following the identification of an alternatively splice isoform of FANCE (Fanconi anemia complementation group E) significantly expressed in breast cancer individuals from high-risk non-BRCA1/2 families, we studied the impact of this FANCE splice isoform (FANCEΔ4) on DNA repair processes. 26277624 2015
CUI: C3160739
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP E
FANCONI ANEMIA, COMPLEMENTATION GROUP E 		0.710 Biomarker disease GENOMICS_ENGLAND How the fanconi anemia pathway guards the genome. 19686080 2009
CUI: C3160739
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP E
FANCONI ANEMIA, COMPLEMENTATION GROUP E 		0.710 GeneticVariation disease UNIPROT Genetic subtyping of Fanconi anemia by comprehensive mutation screening. 17924555 2008
CUI: C3160739
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP E
FANCONI ANEMIA, COMPLEMENTATION GROUP E 		0.710 Biomarker disease GENOMICS_ENGLAND Isolation of a cDNA representing the Fanconi anemia complementation group E gene. 11001585 2000
CUI: C3160739
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP E
FANCONI ANEMIA, COMPLEMENTATION GROUP E 		0.710 GeneticVariation disease UNIPROT Isolation of a cDNA representing the Fanconi anemia complementation group E gene. 11001585 2000
CUI: C3160739
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP E
FANCONI ANEMIA, COMPLEMENTATION GROUP E 		0.710 Biomarker disease GENOMICS_ENGLAND The Fanconi anemia group E gene, FANCE, maps to chromosome 6p. 10205272 1999
CUI: C3160739
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP E
FANCONI ANEMIA, COMPLEMENTATION GROUP E 		0.710 Biomarker disease GENOMICS_ENGLAND Evidence for at least eight Fanconi anemia genes. 9382107 1997
CUI: C3160739
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP E
FANCONI ANEMIA, COMPLEMENTATION GROUP E 		0.710 Biomarker disease GENOMICS_ENGLAND Classification of Fanconi anemia patients by complementation analysis: evidence for a fifth genetic subtype. 7662964 1995
CUI: C3160739
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP E
FANCONI ANEMIA, COMPLEMENTATION GROUP E 		0.710 Biomarker disease CTD_human
CUI: C3160739
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP E
FANCONI ANEMIA, COMPLEMENTATION GROUP E 		0.710 CausalMutation disease CLINVAR
CUI: C3160739
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP E
FANCONI ANEMIA, COMPLEMENTATION GROUP E 		0.710 Biomarker disease GENOMICS_ENGLAND
CUI: C0023418
Disease: leukemia
leukemia 		0.600 Biomarker disease GENOMICS_ENGLAND Germline Genetic Predisposition to Hematologic Malignancy. 28297620 2017
CUI: C0023418
Disease: leukemia
leukemia 		0.600 CausalMutation disease CGI
CUI: C0023418
Disease: leukemia
leukemia 		0.600 Biomarker disease HPO
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.500 Biomarker disease GENOMICS_ENGLAND Germline Genetic Predisposition to Hematologic Malignancy. 28297620 2017
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.500 CausalMutation disease CGI
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.400 GeneticVariation disease BEFREE In one patient, no pathogenic variant could be identified in any of the 22 known FA genes, and in seven patients, only one deleterious variant could be identified (three patients each with FANCA and FANCD2 and one patient with FANCE mutations) CONCLUSION: WES and proper bioinformatics analysis are sufficient to effectively characterise patients with FA regardless of the rarity of their complementation group, type of mutations, mosaic condition and DNA source. 31586946 2020
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.400 Biomarker disease BEFREE FANCE and FANCL, which are components of the core complex, are known to be responsible for the recruitment and ubiquitination, respectively, of FANCD2, a critical step in the FA DNA repair pathway. 28678401 2017
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		0.400 Biomarker disease GENOMICS_ENGLAND Germline Genetic Predisposition to Hematologic Malignancy. 28297620 2017
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.400 Biomarker group GENOMICS_ENGLAND Germline Genetic Predisposition to Hematologic Malignancy. 28297620 2017
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.400 GeneticVariation disease BEFREE We detected an enrichment for variants in FA DNA damage repair pathway genes in our familial CRC cohort as 6 families carried heterozygous, rare, potentially pathogenic variants located in BRCA2/FANCD1, BRIP1/FANCJ, FANCC, FANCE and REV3L/POLZ. 27165003 2016
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.400 AlteredExpression disease BEFREE Intriguingly, ectopic expression of the FANCE C terminus fragment alone in FA normal cells disrupts DNA repair, consolidating the importance of the FANCE-FANCD2 interaction in the DNA cross-link repair. 24451376 2014
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.400 Biomarker disease GENOMICS_ENGLAND How the fanconi anemia pathway guards the genome. 19686080 2009
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.400 Biomarker disease BEFREE The portion of FANCE defined by our crystallographic analysis is sufficient for interaction with FANCD2, yielding structural information into the mode of FANCD2 recruitment to the FA core complex. 17308347 2007
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.400 Biomarker disease BEFREE FANCE is predominantly localized in the nucleus and acts as a molecular bridge between the FA core complex and FANCD2, through direct binding of both FANCC and FANCD2. 16513431 2006