Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5019
Gene Symbol: OXCT1
OXCT1
Succinyl-CoA:3-oxoacid CoA transferase deficiency
0.700 GeneticVariation UNIPROT Clinical and molecular characterization of five patients with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency. 21296660

2011

Entrez Id: 5019
Gene Symbol: OXCT1
OXCT1
Succinyl-CoA:3-oxoacid CoA transferase deficiency
0.700 GeneticVariation UNIPROT Succinyl-CoA:3-ketoacid CoA transferase (SCOT): cloning of the human SCOT gene, tertiary structural modeling of the human SCOT monomer, and characterization of three pathogenic mutations. 10964512

2000

Entrez Id: 5019
Gene Symbol: OXCT1
OXCT1
Succinyl-CoA:3-oxoacid CoA transferase deficiency
0.700 GeneticVariation UNIPROT Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency: two pathogenic mutations, V133E and C456F, in Japanese siblings. 9671268

1998