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 GeneticVariation UNIPROT The ornithine transcarbamylase (OTC) gene: mutations in 50 Japanese families with OTC deficiency. 9286441

1997

Entrez Id: 5009
Gene Symbol: OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000 GeneticVariation UNIPROT Four newly identified ornithine transcarbamylase (OTC) mutations (D126G, R129H, I172M and W332X) in Japanese male patients with early-onset OTC deficiency. 8081398

1994

Entrez Id: 5009
Gene Symbol: OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000 GeneticVariation UNIPROT Scanning detection of mutations in human ornithine transcarbamoylase by chemical mismatch cleavage. 2474822

1989

Entrez Id: 5009
Gene Symbol: OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000 GeneticVariation UNIPROT Identification of a cytogenetic deletion and of four novel mutations (Q69X, I172F, G188V, G197R) affecting the gene for ornithine transcarbamylase (OTC) in Spanish patients with OTC deficiency. 10502831

1999

Entrez Id: 5009
Gene Symbol: OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000 GeneticVariation UNIPROT A novel point mutation at codon 269 of the ornithine transcarbamylase (OTC) gene causing neonatal onset of OTC deficiency. 7474905

1995

Entrez Id: 5009
Gene Symbol: OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000 GeneticVariation UNIPROT Three novel and one recurrent ornithine carbamoyltransferase gene mutations in Polish patients. 10070627

1999

Entrez Id: 5009
Gene Symbol: OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000 GeneticVariation UNIPROT A novel arginine (245) to glutamine change in exon 8 of the ornithine carbamoyl transferase gene in two unrelated children presenting with late onset deficiency and showing the same enzymatic pattern. 8081373

1994

Entrez Id: 5009
Gene Symbol: OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000 GeneticVariation UNIPROT Four novel mutations are identified in the ornithine transcarbamylase (OTC) gene, in four patients with OTC deficiency (an X-linked disorder). 8530002

1995

Entrez Id: 5009
Gene Symbol: OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000 GeneticVariation UNIPROT A 3-base pair in-frame deletion in exon 8 (delGlu272/273) of the ornithine transcarbamylase gene in late-onset hyperammonemic coma. 8956045

1996

Entrez Id: 5009
Gene Symbol: OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000 GeneticVariation UNIPROT Fatal hyperammonemia resulting from a C-to-T mutation at a MspI site of the ornithine transcarbamylase gene. 1721894

1991

Entrez Id: 5009
Gene Symbol: OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000 GeneticVariation UNIPROT Partial duplication [dup. TCAC (178)] and novel point mutations (T125M, G188R, A209V, and H302L) of the ornithine transcarbamylase gene in congenital hyperammonemia. 8807340

1996

Entrez Id: 5009
Gene Symbol: OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000 GeneticVariation UNIPROT Since the cloning of the cDNA for X-linked ornithine transcarbamylase (OTC) in 1984, diagnostic accuracy of OTC deficiency for prenatal and carrier detection has been greatly improved by the use of linkage analysis. 1671317

1991

Entrez Id: 5009
Gene Symbol: OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000 GeneticVariation UNIPROT Y55D mutation in ornithine transcarbamylase associated with late-onset hyperammonemia in a male. 9452065

1998

Entrez Id: 5009
Gene Symbol: OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000 GeneticVariation UNIPROT Use of denaturing gradient gel electrophoresis for detection of mutation and prospective diagnosis in late onset ornithine transcarbamylase deficiency. 2347583

1990

Entrez Id: 5009
Gene Symbol: OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000 GeneticVariation UNIPROT Seven new mutations in the human ornithine transcarbamylase gene. 7951259

1994

Entrez Id: 5009
Gene Symbol: OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000 GeneticVariation UNIPROT Single-strand conformational polymorphism and direct sequencing applied to carrier testing in families with ornithine transcarbamylase deficiency. 8099056

1993

Entrez Id: 5009
Gene Symbol: OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000 GeneticVariation UNIPROT Expression, purification and kinetic characterization of wild-type human ornithine transcarbamylase and a recurrent mutant that produces 'late onset' hyperammonaemia. 9065786

1997

Entrez Id: 5009
Gene Symbol: OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000 GeneticVariation UNIPROT Novel intragenic deletions and point mutations of the ornithine transcarbamylase gene in congenital hyperammonemia. 9452049

1998

Entrez Id: 5009
Gene Symbol: OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000 GeneticVariation UNIPROT To investigate molecular lesions resulting in OTC deficiency, the OTC genes of unrelated symptomatic or asymptomatic female heterozygotes were amplified exon by exon and analysed by direct sequencing of double-stranded DNA. 8830175

1996

Entrez Id: 5009
Gene Symbol: OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000 GeneticVariation UNIPROT Among 24 cases of OTC deficiency previously examined, three unrelated individuals all showed loss of a Taq I site in the OTC gene corresponding to codon 109, suggesting that this Taq I site may be prone to mutation. 2556444

1989

Entrez Id: 5009
Gene Symbol: OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000 GeneticVariation UNIPROT Ornithine transcarbamylase deficiency: characterization of gene mutations and polymorphisms. 8956038

1996

Entrez Id: 5009
Gene Symbol: OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000 GeneticVariation UNIPROT Identification of seven novel missense mutations, two splice-site mutations, two microdeletions and a polymorphic amino acid substitution in the gene for ornithine transcarbamylase (OTC) in patients with OTC deficiency. 11793483

2002

Entrez Id: 5009
Gene Symbol: OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000 GeneticVariation UNIPROT We describe six new mutations in the ornithine transcarbamylase (OTC) gene found in patients with OTC deficiency. 1480464

1992

Entrez Id: 5009
Gene Symbol: OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000 GeneticVariation UNIPROT "The ornithine transcarbamylase gene: new ""private"" mutations in four patients and study of a polymorphism." 8019569

1994

Entrez Id: 5009
Gene Symbol: OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000 GeneticVariation UNIPROT Here we show that PBL OTC mRNA analysis is useful to detect genetic lesions in male and female OTCD patients. 10737985

2000