OAT, ornithine aminotransferase, 4942

N. diseases: 92; N. variants: 71
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121965044
rs121965044
Entrez Id: 4942
Gene Symbol: OAT
OAT
CUI: C0018425
Disease:
Gyrate Atrophy 		0.800 GeneticVariation UNIPROT Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retina. 23076989 2013
dbSNP: rs121965051
rs121965051
Entrez Id: 4942
Gene Symbol: OAT
OAT
CUI: C0018425
Disease:
Gyrate Atrophy 		0.800 GeneticVariation UNIPROT Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retina. 23076989 2013
dbSNP: rs386833618
rs386833618
Entrez Id: 4942
Gene Symbol: OAT
OAT
CUI: C0018425
Disease:
Gyrate Atrophy 		0.800 GeneticVariation UNIPROT Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retina. 23076989 2013
dbSNP: rs121965044
rs121965044
Entrez Id: 4942
Gene Symbol: OAT
OAT
CUI: C0018425
Disease:
Gyrate Atrophy 		0.800 GeneticVariation UNIPROT A single amino acid substitution within the mature sequence of ornithine aminotransferase obstructs mitochondrial entry of the precursor. 7668253 1995
dbSNP: rs121965044
rs121965044
Entrez Id: 4942
Gene Symbol: OAT
OAT
CUI: C0018425
Disease:
Gyrate Atrophy 		0.800 GeneticVariation UNIPROT Pyridoxine-responsive gyrate atrophy of the choroid and retina: clinical and biochemical correlates of the mutation A226V. 7887415 1995
dbSNP: rs121965051
rs121965051
Entrez Id: 4942
Gene Symbol: OAT
OAT
CUI: C0018425
Disease:
Gyrate Atrophy 		0.800 GeneticVariation UNIPROT Pyridoxine-responsive gyrate atrophy of the choroid and retina: clinical and biochemical correlates of the mutation A226V. 7887415 1995
dbSNP: rs121965051
rs121965051
Entrez Id: 4942
Gene Symbol: OAT
OAT
CUI: C0018425
Disease:
Gyrate Atrophy 		0.800 GeneticVariation UNIPROT A single amino acid substitution within the mature sequence of ornithine aminotransferase obstructs mitochondrial entry of the precursor. 7668253 1995
dbSNP: rs386833618
rs386833618
Entrez Id: 4942
Gene Symbol: OAT
OAT
CUI: C0018425
Disease:
Gyrate Atrophy 		0.800 GeneticVariation UNIPROT A single amino acid substitution within the mature sequence of ornithine aminotransferase obstructs mitochondrial entry of the precursor. 7668253 1995
dbSNP: rs386833618
rs386833618
Entrez Id: 4942
Gene Symbol: OAT
OAT
CUI: C0018425
Disease:
Gyrate Atrophy 		0.800 GeneticVariation UNIPROT Pyridoxine-responsive gyrate atrophy of the choroid and retina: clinical and biochemical correlates of the mutation A226V. 7887415 1995
dbSNP: rs121965044
rs121965044
Entrez Id: 4942
Gene Symbol: OAT
OAT
CUI: C0018425
Disease:
Gyrate Atrophy 		0.800 GeneticVariation UNIPROT Strand-separating conformational polymorphism analysis: efficacy of detection of point mutations in the human ornithine delta-aminotransferase gene. 1612597 1992
dbSNP: rs121965044
rs121965044
Entrez Id: 4942
Gene Symbol: OAT
OAT
CUI: C0018425
Disease:
Gyrate Atrophy 		0.800 GeneticVariation UNIPROT Ornithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences. 1737786 1992
dbSNP: rs121965051
rs121965051
Entrez Id: 4942
Gene Symbol: OAT
OAT
CUI: C0018425
Disease:
Gyrate Atrophy 		0.800 GeneticVariation UNIPROT Ornithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences. 1737786 1992
dbSNP: rs121965051
rs121965051
Entrez Id: 4942
Gene Symbol: OAT
OAT
CUI: C0018425
Disease:
Gyrate Atrophy 		0.800 GeneticVariation UNIPROT Strand-separating conformational polymorphism analysis: efficacy of detection of point mutations in the human ornithine delta-aminotransferase gene. 1612597 1992
dbSNP: rs386833618
rs386833618
Entrez Id: 4942
Gene Symbol: OAT
OAT
CUI: C0018425
Disease:
Gyrate Atrophy 		0.800 GeneticVariation UNIPROT Ornithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences. 1737786 1992
dbSNP: rs386833618
rs386833618
Entrez Id: 4942
Gene Symbol: OAT
OAT
CUI: C0018425
Disease:
Gyrate Atrophy 		0.800 GeneticVariation UNIPROT Strand-separating conformational polymorphism analysis: efficacy of detection of point mutations in the human ornithine delta-aminotransferase gene. 1612597 1992
dbSNP: rs121965044
rs121965044
Entrez Id: 4942
Gene Symbol: OAT
OAT
CUI: C0018425
Disease:
Gyrate Atrophy 		0.800 GeneticVariation UNIPROT Point mutation affecting processing of the ornithine aminotransferase precursor protein in gyrate atrophy. 2793865 1989
dbSNP: rs121965051
rs121965051
Entrez Id: 4942
Gene Symbol: OAT
OAT
CUI: C0018425
Disease:
Gyrate Atrophy 		0.800 GeneticVariation UNIPROT Point mutation affecting processing of the ornithine aminotransferase precursor protein in gyrate atrophy. 2793865 1989
dbSNP: rs386833618
rs386833618
Entrez Id: 4942
Gene Symbol: OAT
OAT
CUI: C0018425
Disease:
Gyrate Atrophy 		0.800 GeneticVariation UNIPROT Point mutation affecting processing of the ornithine aminotransferase precursor protein in gyrate atrophy. 2793865 1989
dbSNP: rs121965044
rs121965044
Entrez Id: 4942
Gene Symbol: OAT
OAT
CUI: C0018425
Disease:
Gyrate Atrophy 		0.800 GeneticVariation UNIPROT Molecular basis of ornithine aminotransferase deficiency in B-6-responsive and -nonresponsive forms of gyrate atrophy. 3375240 1988
dbSNP: rs121965051
rs121965051
Entrez Id: 4942
Gene Symbol: OAT
OAT
CUI: C0018425
Disease:
Gyrate Atrophy 		0.800 GeneticVariation UNIPROT Molecular basis of ornithine aminotransferase deficiency in B-6-responsive and -nonresponsive forms of gyrate atrophy. 3375240 1988
dbSNP: rs386833618
rs386833618
Entrez Id: 4942
Gene Symbol: OAT
OAT
CUI: C0018425
Disease:
Gyrate Atrophy 		0.800 GeneticVariation UNIPROT Molecular basis of ornithine aminotransferase deficiency in B-6-responsive and -nonresponsive forms of gyrate atrophy. 3375240 1988
dbSNP: rs121965044
rs121965044
Entrez Id: 4942
Gene Symbol: OAT
OAT
CUI: C0018425
Disease:
Gyrate Atrophy 		A 0.800 CausalMutation CLINVAR
dbSNP: rs121965051
rs121965051
Entrez Id: 4942
Gene Symbol: OAT
OAT
CUI: C0018425
Disease:
Gyrate Atrophy 		A 0.800 GeneticVariation CLINVAR
dbSNP: rs386833618
rs386833618
Entrez Id: 4942
Gene Symbol: OAT
OAT
CUI: C0018425
Disease:
Gyrate Atrophy 		A 0.800 GeneticVariation CLINVAR
dbSNP: rs121965040
rs121965040
Entrez Id: 4942
Gene Symbol: OAT
OAT
CUI: C0018425
Disease:
Gyrate Atrophy 		0.720 GeneticVariation BEFREE R180T variant of δ-ornithine aminotransferase associated with gyrate atrophy: biochemical, computational, X-ray and NMR studies provide insight into its catalytic features. 30957963 2019