OAT, ornithine aminotransferase, 4942

N. diseases: 92; N. variants: 71
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
0.330 GeneticVariation group BEFREE Gyrate atrophy (GA) is an autosomal recessive eye disease involving a progressive loss of vision due to chorioretinal degeneration in which the mitochondrial matrix enzyme ornithine aminotransferase (OAT) is defective. 1487247 1992
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
0.330 GeneticVariation group BEFREE Gyrate atrophy (GA), a recessive eye disease involving progressive vision loss due to chorioretinal degeneration, is associated with the deficiency of the mitochondrial enzyme ornithine aminotransferase (OAT), with consequent hyperornithinemia. 2220818 1990
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
0.330 GeneticVariation group BEFREE Gyrate atrophy (GA), a recessive eye disease involving progressive loss of vision due to chorioretinal degeneration, is associated with a deficiency of the mitochondrial enzyme ornithine aminotransferase (OATase; ornithine-oxo-acid aminotransferase; L-ornithine:2-oxo-acid aminotransferase, EC 2.6.1.13) with consequent hyperornithinemia. 3375240 1988
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
0.330 Biomarker group GENOMICS_ENGLAND
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
0.330 Biomarker group GENOMICS_ENGLAND
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
0.330 Biomarker group GENOMICS_ENGLAND