Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5009
Gene Symbol: OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000 AlteredExpression BEFREE HMT delivery of human OTC mRNA normalizes plasma ammonia and urinary orotic acid levels, and leads to a prolonged survival benefit in the murine OTCD model. 29433939

2018

Entrez Id: 5009
Gene Symbol: OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000 GeneticVariation BEFREE Mutations occurring close to the catalytic site of OTCase can cause severe OTCD phenotypes compared with those caused by mutations occurring on the surface of this protein. 30175132

2018

Entrez Id: 5009
Gene Symbol: OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000 GeneticVariation BEFREE About 10%-15% of patients, clinically diagnosed with OTC deficiency (OTCD), lack identifiable mutations in the coding region or splice junctions of the OTC gene on routine molecular testing. 29282796

2018

Entrez Id: 5009
Gene Symbol: OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000 GeneticVariation BEFREE Ornithine transcarbamylase deficiency (OTCD) is an X-linked recessive disorder involving a defect in the urea cycle caused by OTC gene mutations. 30541480

2018

Entrez Id: 5009
Gene Symbol: OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000 GeneticVariation BEFREE Gene Mutation Analysis and Prenatal Diagnosis of the Ornithine Transcarbamylase (OTC) Gene in Two Families with Ornithine Transcarbamylase Deficiency. 30333473

2018

Entrez Id: 5009
Gene Symbol: OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000 CausalMutation CLINVAR Clinical and mutation analysis of 24 Chinese patients with ornithine transcarbamylase deficiency. 28266016

2017

Entrez Id: 5009
Gene Symbol: OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000 Biomarker BEFREE AAV gene therapy corrects OTC deficiency and prevents liver fibrosis in aged OTC-knock out heterozygous mice. 28283349

2017

Entrez Id: 5009
Gene Symbol: OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000 AlteredExpression BEFREE LC-MS/MS assay of plasma OTC activity enabled the detection of all hemizygous and the majority of symptomatic heterozygous OTCD patients in the tested cohort. 28107167

2017

Entrez Id: 5009
Gene Symbol: OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000 CausalMutation CLINVAR Frequency and Pathophysiology of Acute Liver Failure in Ornithine Transcarbamylase Deficiency (OTCD). 27070778

2016

Entrez Id: 5009
Gene Symbol: OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016

Entrez Id: 5009
Gene Symbol: OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000 Biomarker MGD A new mouse model of mild ornithine transcarbamylase deficiency (spf-j) displays cerebral amino acid perturbations at baseline and upon systemic immune activation. 25647322

2015

Entrez Id: 5009
Gene Symbol: OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000 GeneticVariation BEFREE Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency. 25994866

2015

Entrez Id: 5009
Gene Symbol: OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000 GeneticVariation BEFREE This novel mutation in the OTC gene is responsible for the late-onset phenotype of OTC deficiency. 26446336

2015

Entrez Id: 5009
Gene Symbol: OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000 GeneticVariation CLINVAR Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency. 25994866

2015

Entrez Id: 5009
Gene Symbol: OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000 CausalMutation CLINVAR Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency. 25994866

2015

Entrez Id: 5009
Gene Symbol: OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000 Biomarker CLINGEN Genotype-Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update. 26059767

2015

Entrez Id: 5009
Gene Symbol: OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000 GeneticVariation BEFREE The aim of this study was to provide clues for recognition of OTCD in adults and analyze the environmental factors that, interacting with OTC gene mutations, might have triggered acute clinical manifestations. 25026867

2014

Entrez Id: 5009
Gene Symbol: OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000 Biomarker CLINGEN Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics. 24309898

2014

Entrez Id: 5009
Gene Symbol: OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000 Biomarker BEFREE OTC gene in ornithine transcarbamylase deficiency: clinical course and mutational spectrum in seven Korean patients. 25011434

2014

Entrez Id: 5009
Gene Symbol: OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000 CausalMutation CLINVAR Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases. 25433810

2014

Entrez Id: 5009
Gene Symbol: OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000 CausalMutation CLINVAR Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatment. 25026867

2014

Entrez Id: 5009
Gene Symbol: OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000 CausalMutation CLINVAR Magnetic resonance spectroscopy and molecular studies in ornithine transcarbamylase deficiency novel mutation c.802A>G in exon 8 (p.Met268Val). 23821427

2013

Entrez Id: 5009
Gene Symbol: OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000 CausalMutation CLINVAR A case with combined rare inborn metabolic disorders: congenital adrenal hyperplasia and ornithine transcarbamylase deficiency. 23769969

2013

Entrez Id: 5009
Gene Symbol: OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000 GeneticVariation BEFREE A 66-year-old woman heterozygous for a mutation in the ornithine transcarbamylase gene (Otc) participated in a phase I gene therapy trial for OTC deficiency. 24010702

2013

Entrez Id: 5009
Gene Symbol: OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000 GeneticVariation CLINVAR Coagulopathy in patients with late-onset ornithine transcarbamylase deficiency in remission state: a previously unrecognized complication. 23209112

2013