Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 131669
Gene Symbol: UROC1
UROC1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.510 Biomarker 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
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.510 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016

Entrez Id: 131669
Gene Symbol: UROC1
UROC1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.510 GeneticVariation 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
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.510 Biomarker 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