TAT, tyrosine aminotransferase, 6898

N. diseases: 230; N. variants: 28
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268487
Disease: Tyrosine Transaminase Deficiency Disease
Tyrosine Transaminase Deficiency Disease 		0.800 Biomarker disease BEFREE Deficiency of hepatic enzyme tyrosine aminotransferase characterizes the innate error of autosomal recessive disease Tyrosinemia Type II. 30949952 2019
CUI: C0268487
Disease: Tyrosine Transaminase Deficiency Disease
Tyrosine Transaminase Deficiency Disease 		0.800 Biomarker disease CLINGEN Herpetiform keratitis and palmoplantar hyperkeratosis: warning signs for Richner-Hanhart syndrome. 27832414 2017
CUI: C0268487
Disease: Tyrosine Transaminase Deficiency Disease
Tyrosine Transaminase Deficiency Disease 		0.800 GeneticVariation disease CLINVAR Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation. 28255985 2017
CUI: C0268487
Disease: Tyrosine Transaminase Deficiency Disease
Tyrosine Transaminase Deficiency Disease 		0.800 GeneticVariation disease CLINVAR Herpetiform keratitis and palmoplantar hyperkeratosis: warning signs for Richner-Hanhart syndrome. 27832414 2017
CUI: C0268487
Disease: Tyrosine Transaminase Deficiency Disease
Tyrosine Transaminase Deficiency Disease 		0.800 GeneticVariation disease BEFREE Tyrosinemia type II is an inborn error of metabolism caused by a mutation in a gene encoding the enzyme tyrosine aminotransferase leading to an accumulation of tyrosine in the body, and is associated with neurologic and development difficulties in numerous patients. 28315992 2017
CUI: C0268487
Disease: Tyrosine Transaminase Deficiency Disease
Tyrosine Transaminase Deficiency Disease 		0.800 Biomarker disease BEFREE Tyrosinemia type II is a rare autosomal recessive disease caused by deficiency of hepatic tyrosine aminotransferase and is associated with neurologic and development difficulties in numerous patients. 27924409 2017
CUI: C0268487
Disease: Tyrosine Transaminase Deficiency Disease
Tyrosine Transaminase Deficiency Disease 		0.800 GeneticVariation disease BEFREE Novel and recurrent mutations in the TAT gene in Tunisian families affected with Richner-Hanhart syndrome. 23954227 2013
CUI: C0268487
Disease: Tyrosine Transaminase Deficiency Disease
Tyrosine Transaminase Deficiency Disease 		0.800 GeneticVariation disease BEFREE This is the first complete TAT deletion in tyrosinaemia type II described so far. 21636300 2011
CUI: C0268487
Disease: Tyrosine Transaminase Deficiency Disease
Tyrosine Transaminase Deficiency Disease 		0.800 GeneticVariation disease BEFREE Tyrosinemia type II (Richner-Hanhart syndrome): a new mutation in the TAT gene. 21145993 2011
CUI: C0268487
Disease: Tyrosine Transaminase Deficiency Disease
Tyrosine Transaminase Deficiency Disease 		0.800 Biomarker disease CLINGEN Identification of two new mutations in the TAT gene in a Danish family with tyrosinaemia type II. 18945316 2009
CUI: C0268487
Disease: Tyrosine Transaminase Deficiency Disease
Tyrosine Transaminase Deficiency Disease 		0.800 GeneticVariation disease CLINVAR Richner-Hanhart syndrome detected by expanded newborn screening. 18577048 2008
CUI: C0268487
Disease: Tyrosine Transaminase Deficiency Disease
Tyrosine Transaminase Deficiency Disease 		0.800 Biomarker disease 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
CUI: C0268487
Disease: Tyrosine Transaminase Deficiency Disease
Tyrosine Transaminase Deficiency Disease 		0.800 AlteredExpression disease BEFREE The narrow substrate specificity of human tyrosine aminotransferase--the enzyme deficient in tyrosinemia type II. 16640556 2006
CUI: C0268487
Disease: Tyrosine Transaminase Deficiency Disease
Tyrosine Transaminase Deficiency Disease 		0.800 GeneticVariation disease BEFREE 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
CUI: C0268487
Disease: Tyrosine Transaminase Deficiency Disease
Tyrosine Transaminase Deficiency Disease 		0.800 GeneticVariation disease BEFREE Clinical and mutational investigations of tyrosinemia type II in Northern Tunisia: identification and structural characterization of two novel TAT mutations. 16574453 2006
CUI: C0268487
Disease: Tyrosine Transaminase Deficiency Disease
Tyrosine Transaminase Deficiency Disease 		0.800 Biomarker disease CLINGEN Richner-Hanhart syndrome: report of a case with a novel mutation of tyrosine aminotransferase. 16318910 2006
CUI: C0268487
Disease: Tyrosine Transaminase Deficiency Disease
Tyrosine Transaminase Deficiency Disease 		0.800 CausalMutation disease CLINVAR 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
CUI: C0268487
Disease: Tyrosine Transaminase Deficiency Disease
Tyrosine Transaminase Deficiency Disease 		0.800 GeneticVariation disease CLINVAR In all, twelve different TAT gene mutations have now been identified in tyrosinemia type II. 9544843 1998
CUI: C0268487
Disease: Tyrosine Transaminase Deficiency Disease
Tyrosine Transaminase Deficiency Disease 		0.800 Biomarker disease CLINGEN In all, twelve different TAT gene mutations have now been identified in tyrosinemia type II. 9544843 1998
CUI: C0268487
Disease: Tyrosine Transaminase Deficiency Disease
Tyrosine Transaminase Deficiency Disease 		0.800 GeneticVariation disease BEFREE In all, twelve different TAT gene mutations have now been identified in tyrosinemia type II. 9544843 1998
CUI: C0268487
Disease: Tyrosine Transaminase Deficiency Disease
Tyrosine Transaminase Deficiency Disease 		0.800 CausalMutation disease CLINVAR Point mutations in the tyrosine aminotransferase gene in tyrosinemia type II. 1357662 1992
CUI: C0268487
Disease: Tyrosine Transaminase Deficiency Disease
Tyrosine Transaminase Deficiency Disease 		0.800 GermlineCausalMutation disease ORPHANET Point mutations in the tyrosine aminotransferase gene in tyrosinemia type II. 1357662 1992
CUI: C0268487
Disease: Tyrosine Transaminase Deficiency Disease
Tyrosine Transaminase Deficiency Disease 		0.800 Biomarker disease GENOMICS_ENGLAND Point mutations in the tyrosine aminotransferase gene in tyrosinemia type II. 1357662 1992
CUI: C0268487
Disease: Tyrosine Transaminase Deficiency Disease
Tyrosine Transaminase Deficiency Disease 		0.800 Biomarker disease CLINGEN Point mutations in the tyrosine aminotransferase gene in tyrosinemia type II. 1357662 1992
CUI: C0268487
Disease: Tyrosine Transaminase Deficiency Disease
Tyrosine Transaminase Deficiency Disease 		0.800 GeneticVariation disease UNIPROT Point mutations in the tyrosine aminotransferase gene in tyrosinemia type II. 1357662 1992