OAT, ornithine aminotransferase, 4942

N. diseases: 92; N. variants: 71
Disease: Hyperornithinemia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121965056
rs121965056
Entrez Id: 4942
Gene Symbol: OAT
OAT
CUI: C0599035
Disease:
Hyperornithinemia 		T 0.700 CausalMutation CLINVAR Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies. 28181551 2017
dbSNP: rs121965056
rs121965056
Entrez Id: 4942
Gene Symbol: OAT
OAT
CUI: C0599035
Disease:
Hyperornithinemia 		T 0.700 CausalMutation CLINVAR Nonsense-codon mutations of the ornithine aminotransferase gene with decreased levels of mutant mRNA in gyrate atrophy. 1609808 1992