DisGeNET - a database of gene-disease associations

Ornithine carbamoyltransferase deficiency, C0268542

Gene: OTC ×

Source: UNIPROT ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs66741318

OTC

0.810

GeneticVariation

UNIPROT

Expression, purification and kinetic characterization of wild-type human ornithine transcarbamylase and a recurrent mutant that produces 'late onset' hyperammonaemia.

9065786

1997

dbSNP:

rs66741318

OTC

0.810

GeneticVariation

UNIPROT

Ornithine transcarbamylase deficiency: ten new mutations and high proportion of de novo mutations in heterozygous females.

9143919

1997

dbSNP:

rs67120076

OTC

0.810

GeneticVariation

UNIPROT

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

9286441

1997

dbSNP:

rs67120076

OTC

0.810

GeneticVariation

UNIPROT

Expression, purification and kinetic characterization of wild-type human ornithine transcarbamylase and a recurrent mutant that produces 'late onset' hyperammonaemia.

9065786

1997

dbSNP:

rs67120076

OTC

0.810

GeneticVariation

UNIPROT

Ornithine transcarbamylase deficiency: ten new mutations and high proportion of de novo mutations in heterozygous females.

9143919

1997

dbSNP:

rs72554308

OTC

0.810

GeneticVariation

UNIPROT

Expression, purification and kinetic characterization of wild-type human ornithine transcarbamylase and a recurrent mutant that produces 'late onset' hyperammonaemia.

9065786

1997

dbSNP:

rs72554308

OTC

0.810

GeneticVariation

UNIPROT

Ornithine transcarbamylase deficiency: ten new mutations and high proportion of de novo mutations in heterozygous females.

9143919

1997

dbSNP:

rs72554308

OTC

0.810

GeneticVariation

UNIPROT

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

9286441

1997

dbSNP:

rs72558454

OTC

0.810

GeneticVariation

UNIPROT

However, one of the few recurrent mutations, R277W, an alteration that produces a milder phenotype of ornithine transcarbamylase deficiency, is located in the model in a loop remote from the active site that is analogous to a similar loop (the 240's loop, a flexible loop of the catalytic chain of Escherichia coli aspartate transcarbamylase, comprised of residues 230-250) of ATCase.

9065786

1997

dbSNP:

rs72558454

OTC

0.810

GeneticVariation

UNIPROT

Ornithine transcarbamylase deficiency: ten new mutations and high proportion of de novo mutations in heterozygous females.

9143919

1997

dbSNP:

rs72558454

OTC

0.810

GeneticVariation

UNIPROT

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

9286441

1997

dbSNP:

rs66741318

OTC

0.810

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

dbSNP:

rs66741318

OTC

0.810

GeneticVariation

UNIPROT

Identification of new mutations in the ornithine transcarbamylase (OTC) gene in Korean families.

8830175

1996

dbSNP:

rs66741318

OTC

0.810

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

dbSNP:

rs67120076

OTC

0.810

GeneticVariation

UNIPROT

Identification of new mutations in the ornithine transcarbamylase (OTC) gene in Korean families.

8830175

1996

dbSNP:

rs67120076

OTC

0.810

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

dbSNP:

rs67120076

OTC

0.810

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

dbSNP:

rs72554308

OTC

0.810

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

dbSNP:

rs72554308

OTC

0.810

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

dbSNP:

rs72554308

OTC

0.810

GeneticVariation

UNIPROT

Identification of new mutations in the ornithine transcarbamylase (OTC) gene in Korean families.

8830175

1996

dbSNP:

rs72558454

OTC

0.810

GeneticVariation

UNIPROT

Identification of new mutations in the ornithine transcarbamylase (OTC) gene in Korean families.

8830175

1996

dbSNP:

rs72558454

OTC

0.810

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

dbSNP:

rs72558454

OTC

0.810

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

dbSNP:

rs66741318

OTC

0.810

GeneticVariation

UNIPROT

A novel point mutation at codon 269 of the ornithine transcarbamylase (OTC) gene causing neonatal onset of OTC deficiency.

7474905

1995

dbSNP:

rs66741318

OTC

0.810

GeneticVariation

UNIPROT

A splicing mutation, a nonsense mutation (Y167X) and two missense mutations (I159T and A209V) in Spanish patients with ornithine transcarbamylase deficiency.

8530002

1995