Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6898
Gene Symbol: TAT
TAT
CUI: C0268487
Disease: Tyrosine Transaminase Deficiency Disease
Tyrosine Transaminase Deficiency Disease 		0.800 Biomarker CLINGEN Herpetiform keratitis and palmoplantar hyperkeratosis: warning signs for Richner-Hanhart syndrome. 27832414

2017
Entrez Id: 6898
Gene Symbol: TAT
TAT
CUI: C0268487
Disease: Tyrosine Transaminase Deficiency Disease
Tyrosine Transaminase Deficiency Disease 		0.800 Biomarker CLINGEN Identification of two new mutations in the TAT gene in a Danish family with tyrosinaemia type II. 18945316

2009
Entrez Id: 6898
Gene Symbol: TAT
TAT
CUI: C0268487
Disease: Tyrosine Transaminase Deficiency Disease
Tyrosine Transaminase Deficiency Disease 		0.800 Biomarker CLINGEN TAT gene mutation analysis in three Palestinian kindreds with oculocutaneous tyrosinaemia type II; characterization of a silent exonic transversion that causes complete missplicing by exon 11 skipping. 16917729

2006
Entrez Id: 6898
Gene Symbol: TAT
TAT
CUI: C0268487
Disease: Tyrosine Transaminase Deficiency Disease
Tyrosine Transaminase Deficiency Disease 		0.800 Biomarker CLINGEN Richner-Hanhart syndrome: report of a case with a novel mutation of tyrosine aminotransferase. 16318910

2006
Entrez Id: 6898
Gene Symbol: TAT
TAT
CUI: C0268487
Disease: Tyrosine Transaminase Deficiency Disease
Tyrosine Transaminase Deficiency Disease 		0.800 Biomarker CLINGEN In all, twelve different TAT gene mutations have now been identified in tyrosinemia type II. 9544843

1998
Entrez Id: 6898
Gene Symbol: TAT
TAT
CUI: C0268487
Disease: Tyrosine Transaminase Deficiency Disease
Tyrosine Transaminase Deficiency Disease 		0.800 GermlineCausalMutation ORPHANET Point mutations in the tyrosine aminotransferase gene in tyrosinemia type II. 1357662

1992
Entrez Id: 6898
Gene Symbol: TAT
TAT
CUI: C0268487
Disease: Tyrosine Transaminase Deficiency Disease
Tyrosine Transaminase Deficiency Disease 		0.800 Biomarker GENOMICS_ENGLAND Point mutations in the tyrosine aminotransferase gene in tyrosinemia type II. 1357662

1992
Entrez Id: 6898
Gene Symbol: TAT
TAT
CUI: C0268487
Disease: Tyrosine Transaminase Deficiency Disease
Tyrosine Transaminase Deficiency Disease 		0.800 Biomarker CLINGEN Point mutations in the tyrosine aminotransferase gene in tyrosinemia type II. 1357662

1992
Entrez Id: 6898
Gene Symbol: TAT
TAT
CUI: C0268487
Disease: Tyrosine Transaminase Deficiency Disease
Tyrosine Transaminase Deficiency Disease 		0.800 GeneticVariation UNIPROT Point mutations in the tyrosine aminotransferase gene in tyrosinemia type II. 1357662

1992
Entrez Id: 6898
Gene Symbol: TAT
TAT
CUI: C0268487
Disease: Tyrosine Transaminase Deficiency Disease
Tyrosine Transaminase Deficiency Disease 		0.800 Biomarker CLINGEN Soluble and mitochondrial forms of tyrosine aminotransferase. Relationship to human tyrosinemia. 4389443

1969
Entrez Id: 6898
Gene Symbol: TAT
TAT
CUI: C0268487
Disease: Tyrosine Transaminase Deficiency Disease
Tyrosine Transaminase Deficiency Disease 		0.800 Biomarker CTD_human

Entrez Id: 6898
Gene Symbol: TAT
TAT
CUI: C0268487
Disease: Tyrosine Transaminase Deficiency Disease
Tyrosine Transaminase Deficiency Disease 		0.800 Biomarker GENOMICS_ENGLAND

Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268487
Disease: Tyrosine Transaminase Deficiency Disease
Tyrosine Transaminase Deficiency Disease 		0.300 Biomarker CTD_human Functional analysis and in vitro correction of splicing FAH mutations causing tyrosinemia type I. 23895425

2014
Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268487
Disease: Tyrosine Transaminase Deficiency Disease
Tyrosine Transaminase Deficiency Disease 		0.300 Biomarker CTD_human Pharmacological rescue of the 14CoS/14CoS mouse: hepatocyte apoptosis is likely caused by endogenous oxidative stress. 12899938

2003
Entrez Id: 3242
Gene Symbol: HPD
HPD
CUI: C0268487
Disease: Tyrosine Transaminase Deficiency Disease
Tyrosine Transaminase Deficiency Disease 		0.300 Biomarker CTD_human