Gene: UROC1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 131669
Gene Symbol: UROC1
UROC1 		0.510 Biomarker group GENOMICS_ENGLAND Untargeted metabolomics identifies unique though benign biochemical changes in patients with pathogenic variants in UROC1. 30619714 2019
Entrez Id: 131669
Gene Symbol: UROC1
UROC1 		0.510 Biomarker group GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 131669
Gene Symbol: UROC1
UROC1 		0.510 GeneticVariation group BEFREE This report describes the first putative mutations, p.L70P and p.R450C, in the coding region of the UROC1 gene in a girl with urocanic aciduria presenting with mental retardation and intermittent ataxia. 19304569 2009
Entrez Id: 131669
Gene Symbol: UROC1
UROC1 		0.510 Biomarker group CTD_human This report describes the first putative mutations, p.L70P and p.R450C, in the coding region of the UROC1 gene in a girl with urocanic aciduria presenting with mental retardation and intermittent ataxia. 19304569 2009