Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 100132529
Gene Symbol: TAT-AS1
TAT-AS1
CUI: C0268487
Disease: Tyrosine Transaminase Deficiency Disease
Tyrosine Transaminase Deficiency Disease 		0.100 GeneticVariation CLINVAR Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation. 28255985

2017
Entrez Id: 100132529
Gene Symbol: TAT-AS1
TAT-AS1
CUI: C0268487
Disease: Tyrosine Transaminase Deficiency Disease
Tyrosine Transaminase Deficiency Disease 		0.100 GeneticVariation CLINVAR Herpetiform keratitis and palmoplantar hyperkeratosis: warning signs for Richner-Hanhart syndrome. 27832414

2017
Entrez Id: 100132529
Gene Symbol: TAT-AS1
TAT-AS1
CUI: C0268487
Disease: Tyrosine Transaminase Deficiency Disease
Tyrosine Transaminase Deficiency Disease 		0.100 GeneticVariation CLINVAR Richner-Hanhart syndrome detected by expanded newborn screening. 18577048

2008
Entrez Id: 100132529
Gene Symbol: TAT-AS1
TAT-AS1
CUI: C0268487
Disease: Tyrosine Transaminase Deficiency Disease
Tyrosine Transaminase Deficiency Disease 		0.100 CausalMutation 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
Entrez Id: 100132529
Gene Symbol: TAT-AS1
TAT-AS1
CUI: C0268487
Disease: Tyrosine Transaminase Deficiency Disease
Tyrosine Transaminase Deficiency Disease 		0.100 GeneticVariation CLINVAR Novel and recurrent tyrosine aminotransferase gene mutations in tyrosinemia type II. 9544843

1998
Entrez Id: 100132529
Gene Symbol: TAT-AS1
TAT-AS1
CUI: C0268487
Disease: Tyrosine Transaminase Deficiency Disease
Tyrosine Transaminase Deficiency Disease 		0.100 CausalMutation CLINVAR Point mutations in the tyrosine aminotransferase gene in tyrosinemia type II. 1357662

1992