FAH, fumarylacetoacetate hydrolase, 2184

N. diseases: 78; N. variants: 56
Disease: Fanconi Anemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.100 GeneticVariation disease BEFREE The recently identified Fanconi anaemia A (FAA) gene is located on chromosomal band 16q24.3 within a region that has been frequently reported to show loss of heterozygosity (LOH) in breast cancer. 10098735 1999
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.100 AlteredExpression disease BEFREE By Western analysis, we also determined the expression of FAA and FAC, two FA disease gene products that together account for approximately 80% of FA. 10232749 1999
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.100 GeneticVariation disease BEFREE We have investigated the molecular pathology of FA by screening the FAA gene for mutations in a panel of 90 patients identified by the European FA research group, EUFAR. 10094191 1999
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.100 Biomarker disease BEFREE The pMMP-FAA construct specifically complemented the abnormal phenotype of cell lines from FA-A patients, while pMMP-FAC complemented FA-C cells. 9713825 1998
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.100 GeneticVariation disease BEFREE Fine exon-intron structure of the Fanconi anemia group A (FAA) gene and characterization of two genomic deletions. 9721219 1998
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.100 GeneticVariation disease BEFREE A total of seven known genes, including PRSM1, PISSLRE, and the recently cloned Fanconi anemia A (FAA) gene, and potential transcripts from exon-trapping experiments have been located to this contig. 9628816 1998
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.100 GeneticVariation disease BEFREE Complementation groups in FA are likely to represent distinct disease genes, two of which (FAC and FAA) have been cloned. 9382107 1997
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.100 Biomarker disease BEFREE The FAA gene, which maps to chromosome 16q24.3, was recently isolated and methods for molecular diagnosis of FA-A are currently being developed. 10464622 1997
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.100 GeneticVariation disease BEFREE Knowledge of the structure of the FAA gene will provide an invaluable resource for the discovery of mutations in the gene that accounts for about 60-66% of FA patients. 9169126 1997
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.100 Biomarker disease BEFREE We have established a panel of families classified as FA-A by complementation analysis, and used them to search for the FAA gene by linkage analysis. 7581462 1995