OAT, ornithine aminotransferase, 4942

N. diseases: 92; N. variants: 71
Disease: Gyrate Atrophy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs386833621
rs386833621
Entrez Id: 4942
Gene Symbol: OAT
OAT
CUI: C0018425
Disease:
Gyrate Atrophy 		0.710 GeneticVariation UNIPROT Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retina. 23076989 2013
dbSNP: rs386833621
rs386833621
Entrez Id: 4942
Gene Symbol: OAT
OAT
CUI: C0018425
Disease:
Gyrate Atrophy 		0.710 GeneticVariation BEFREE Two clinical subtypes of gyrate atrophy (GA) have been defined based on in vivo or in vitro evidence of response to vitamin B6 (pyridoxine), which is the cofactor of the enzyme ornithine aminotransferase (OAT) shown to be defective in GA. We identified the E318K mutation in the OAT gene, heterozygously in three patients and homozygously in one patient, all of whom were vitamin B6-responsive by previous in vivo and in vitro studies. 10617919 1999
dbSNP: rs386833621
rs386833621
Entrez Id: 4942
Gene Symbol: OAT
OAT
CUI: C0018425
Disease:
Gyrate Atrophy 		0.710 GeneticVariation UNIPROT A single amino acid substitution within the mature sequence of ornithine aminotransferase obstructs mitochondrial entry of the precursor. 7668253 1995
dbSNP: rs386833621
rs386833621
Entrez Id: 4942
Gene Symbol: OAT
OAT
CUI: C0018425
Disease:
Gyrate Atrophy 		0.710 GeneticVariation UNIPROT Pyridoxine-responsive gyrate atrophy of the choroid and retina: clinical and biochemical correlates of the mutation A226V. 7887415 1995
dbSNP: rs386833621
rs386833621
Entrez Id: 4942
Gene Symbol: OAT
OAT
CUI: C0018425
Disease:
Gyrate Atrophy 		0.710 GeneticVariation UNIPROT Ornithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences. 1737786 1992
dbSNP: rs386833621
rs386833621
Entrez Id: 4942
Gene Symbol: OAT
OAT
CUI: C0018425
Disease:
Gyrate Atrophy 		0.710 GeneticVariation UNIPROT Strand-separating conformational polymorphism analysis: efficacy of detection of point mutations in the human ornithine delta-aminotransferase gene. 1612597 1992
dbSNP: rs386833621
rs386833621
Entrez Id: 4942
Gene Symbol: OAT
OAT
CUI: C0018425
Disease:
Gyrate Atrophy 		0.710 GeneticVariation UNIPROT Point mutation affecting processing of the ornithine aminotransferase precursor protein in gyrate atrophy. 2793865 1989
dbSNP: rs386833621
rs386833621
Entrez Id: 4942
Gene Symbol: OAT
OAT
CUI: C0018425
Disease:
Gyrate Atrophy 		0.710 GeneticVariation UNIPROT Molecular basis of ornithine aminotransferase deficiency in B-6-responsive and -nonresponsive forms of gyrate atrophy. 3375240 1988