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 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 This approach based on reverse transcription and nested PCR to obtain a double strand PBL OTC cDNA allowed the identification of genetic lesions in five Italian families affected by OTC deficiency (OTCD). 10737985

2000

Entrez Id: 5009
Gene Symbol: OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000 GeneticVariation UNIPROT In the PBL OTC mRNA two new mutations, T262K and W265L, have been detected in three unrelated male OTCD patients with mild symptoms. 10737985

2000

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

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

1999

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 Novel intragenic deletions and point mutations of the ornithine transcarbamylase gene in congenital hyperammonemia. 9452049

1999

Entrez Id: 5009
Gene Symbol: OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000 GeneticVariation UNIPROT Ten novel mutations of the ornithine transcarbamylase (OTC) gene in OTC deficiency. 9452024

1999

Entrez Id: 5009
Gene Symbol: OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000 GeneticVariation UNIPROT A deletion of at least 11.5 cM in the paternal X chromosome mapping between microsatellites DXS989 and DXS1003 and encompassing the genes for ornithine transcarbamylase (OTC), retinitis pigmentosa GTPase regulator (RPGR) and dystrophin, was associated with the loss of band Xp21 in a female patient with OTC deficiency. 10502831

1999

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 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 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 As part of a continuing study of ornithine transcarbamylase deficiency, we now report an additional thirty novel mutations in the ornithine transcarbamylase gene, together with a brief summary of their clinical presentations. 9266388

1997

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

1997

Entrez Id: 5009
Gene Symbol: OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000 GeneticVariation UNIPROT Ornithine transcarbamylase deficiency: ten new mutations and high proportion of de novo mutations in heterozygous females. 9143919

1997

Entrez Id: 5009
Gene Symbol: OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000 GeneticVariation UNIPROT Mutations in the OTC gene in 50 Japanese families with OTC deficiency were reviewed in relation to the phenotype of the patients and predicted structure of the mutant enzyme. 9286441

1997

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 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 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 Four novel mutations are identified in the ornithine transcarbamylase (OTC) gene, in four patients with OTC deficiency (an X-linked disorder). 8530002

1996

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 Expression of four mutant human ornithine transcarbamylase genes in cultured Cos 1 cells relates to clinical phenotypes. 8112735

1994

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 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 Four newly identified ornithine transcarbamylase (OTC) mutations (D126G, R129H, I172M and W332X) in Japanese male patients with early-onset OTC deficiency. 8081398

1994