Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 383
Gene Symbol: ARG1
ARG1
CUI: C0268548
Disease: Hyperargininemia
Hyperargininemia
1.000 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016

Entrez Id: 383
Gene Symbol: ARG1
ARG1
CUI: C0268548
Disease: Hyperargininemia
Hyperargininemia
1.000 Biomarker GENOMICS_ENGLAND [Seven patients of argininemia with spastic tetraplegia as the first and major symptom and prenatal diagnosis of two fetuses with high risk]. 26310552

2015

Entrez Id: 383
Gene Symbol: ARG1
ARG1
CUI: C0268548
Disease: Hyperargininemia
Hyperargininemia
1.000 Biomarker GENOMICS_ENGLAND Five novel mutations in ARG1 gene in Chinese patients of argininemia. 23859858

2013

Entrez Id: 383
Gene Symbol: ARG1
ARG1
CUI: C0268548
Disease: Hyperargininemia
Hyperargininemia
1.000 Biomarker GENOMICS_ENGLAND Three novel mutations in the liver-type arginase gene in three unrelated Japanese patients with argininemia. 1463019

1992

Entrez Id: 383
Gene Symbol: ARG1
ARG1
CUI: C0268548
Disease: Hyperargininemia
Hyperargininemia
1.000 Biomarker GENOMICS_ENGLAND Three novel mutations in the liver-type arginase gene in three unrelated Japanese patients with argininemia. 1463019

1992

Entrez Id: 383
Gene Symbol: ARG1
ARG1
CUI: C0268548
Disease: Hyperargininemia
Hyperargininemia
1.000 Biomarker GENOMICS_ENGLAND Molecular genetic study of human arginase deficiency. 1598908

1992