DisGeNET - a database of gene-disease associations

Hyperargininemia, C0268548

Variant: rs28941474 ×

Source: ALL

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:

rs28941474

ARG1

0.810

GeneticVariation

BEFREE

Ultimately, the patient was diagnosed with argininemia with homozygous mutation (c.32T>C) of the ARG1 gene at 10 years old.

29443755

2018

dbSNP:

rs28941474

ARG1

0.810

GeneticVariation

UNIPROT

Five novel mutations in ARG1 gene in Chinese patients of argininemia.

23859858

2013

dbSNP:

rs28941474

ARG1

0.810

GeneticVariation

UNIPROT

Analysis of novel ARG1 mutations causing hyperargininemia and correlation with arginase I activity in erythrocytes.

22959135

2012

dbSNP:

rs28941474

ARG1

0.810

GeneticVariation

UNIPROT

Molecular basis of phenotypic variation in patients with argininemia.

7649538

1995

dbSNP:

rs28941474

ARG1

0.810

GeneticVariation

UNIPROT

Three novel mutations in the liver-type arginase gene in three unrelated Japanese patients with argininemia.

1463019

1992

dbSNP:

rs28941474

ARG1

0.810

CausalMutation

CLINVAR