TAT, tyrosine aminotransferase, 6898

N. diseases: 230; N. variants: 28
Disease: Photophobia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085636
Disease: Photophobia
Photophobia 		0.110 GeneticVariation phenotype BEFREE In the present study we report the clinical features and the molecular genetic investigation of the tyrosine aminotransferase (TAT) gene in a young girl from Croatia with Richner-Hanhart syndrome, mainly suffering from photophobia, hyperkeratosis of the palmes and soles and slight neurological abnormalities. 21145993 2011
CUI: C0085636
Disease: Photophobia
Photophobia 		0.110 Biomarker phenotype HPO