Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9439
Gene Symbol: MED23
MED23 		0.100 GeneticVariation phenotype CLINVAR Five novel mutations in ARG1 gene in Chinese patients of argininemia. 23859858 2013
Entrez Id: 383
Gene Symbol: ARG1
ARG1 		1.000 GeneticVariation phenotype CLINVAR Functional consequences of the G235R mutation in liver arginase leading to hyperargininemia. 11883902 2002
Entrez Id: 9439
Gene Symbol: MED23
MED23 		0.100 GeneticVariation phenotype CLINVAR Functional consequences of the G235R mutation in liver arginase leading to hyperargininemia. 11883902 2002
Entrez Id: 383
Gene Symbol: ARG1
ARG1 		1.000 Biomarker phenotype BEFREE Herein we report a patient with arginase I (ARG1) deficiency who presented with recurrent nonconvulsive status epilepticus and liver failure. 29961243 2018
Entrez Id: 383
Gene Symbol: ARG1
ARG1 		1.000 CausalMutation phenotype CLINVAR Identification of a novel R21X mutation in the liver-type arginase gene (ARG1) in four Portuguese patients with argininemia. 10502833 1999
Entrez Id: 9439
Gene Symbol: MED23
MED23 		0.100 CausalMutation phenotype CLINVAR Identification of a novel R21X mutation in the liver-type arginase gene (ARG1) in four Portuguese patients with argininemia. 10502833 1999
Entrez Id: 383
Gene Symbol: ARG1
ARG1 		1.000 CausalMutation phenotype CLINVAR Identification of mutations (D128G, H141L) in the liver arginase gene of patients with hyperargininemia. 7981719 1994
Entrez Id: 9439
Gene Symbol: MED23
MED23 		0.100 CausalMutation phenotype CLINVAR Identification of mutations (D128G, H141L) in the liver arginase gene of patients with hyperargininemia. 7981719 1994
Entrez Id: 383
Gene Symbol: ARG1
ARG1 		1.000 Biomarker phenotype BEFREE In humans, arginase I (AI)-deficiency results in hyperargininemia, a metabolic disorder with symptoms of progressive neurological and intellectual impairment, spasticity, persistent growth retardation, and episodic hyperammonemia. 17997338 2008
Entrez Id: 383
Gene Symbol: ARG1
ARG1 		1.000 GeneticVariation phenotype BEFREE In order to investigate the molecular basis for argininemia in four unrelated Portuguese patients (two from northern Portugal and two from Madeira Island) we performed a DNA sequence analysis of all the exons and exon/intron boundaries of the liver-type arginase gene (ARG1). 10502833 1999
Entrez Id: 383
Gene Symbol: ARG1
ARG1 		1.000 GeneticVariation phenotype BEFREE In this article, we describe the results of molecular studies in a young hyperargininemia patient carrying a novel splicing mutation in ARG1. 26169240 2015
Entrez Id: 414
Gene Symbol: ARSD
ARSD 		0.010 GeneticVariation phenotype BEFREE Laboratory results and test scores from neuropsychological evaluations were assessed in 145 study participants, ages 3 years and older, with ASD (n = 64), ASA (n = 65) and ARGD (n = 16). 29423830 2018
Entrez Id: 383
Gene Symbol: ARG1
ARG1 		1.000 Biomarker phenotype CLINGEN Lethal phenotype in conditional late-onset arginase 1 deficiency in the mouse. 23920045 2013
Entrez Id: 383
Gene Symbol: ARG1
ARG1 		1.000 GeneticVariation phenotype CLINVAR Loss of function mutations in conserved regions of the human arginase I gene. 8902193 1996
Entrez Id: 383
Gene Symbol: ARG1
ARG1 		1.000 CausalMutation phenotype CLINVAR Loss of function mutations in conserved regions of the human arginase I gene. 8902193 1996
Entrez Id: 9439
Gene Symbol: MED23
MED23 		0.100 CausalMutation phenotype CLINVAR Loss of function mutations in conserved regions of the human arginase I gene. 8902193 1996
Entrez Id: 9439
Gene Symbol: MED23
MED23 		0.100 GeneticVariation phenotype CLINVAR Loss of function mutations in conserved regions of the human arginase I gene. 8902193 1996
Entrez Id: 383
Gene Symbol: ARG1
ARG1 		1.000 GeneticVariation phenotype BEFREE Molecular basis of argininemia. Identification of two discrete frame-shift deletions in the liver-type arginase gene. 2365823 1990
Entrez Id: 383
Gene Symbol: ARG1
ARG1 		1.000 Biomarker phenotype CLINGEN Molecular basis of argininemia. Identification of two discrete frame-shift deletions in the liver-type arginase gene. 2365823 1990
Entrez Id: 383
Gene Symbol: ARG1
ARG1 		1.000 GeneticVariation phenotype CLINVAR Molecular basis of phenotypic variation in patients with argininemia. 7649538 1995
Entrez Id: 383
Gene Symbol: ARG1
ARG1 		1.000 GeneticVariation phenotype UNIPROT Molecular basis of phenotypic variation in patients with argininemia. 7649538 1995
Entrez Id: 383
Gene Symbol: ARG1
ARG1 		1.000 CausalMutation phenotype CLINVAR Molecular basis of phenotypic variation in patients with argininemia. 7649538 1995
Entrez Id: 9439
Gene Symbol: MED23
MED23 		0.100 GeneticVariation phenotype CLINVAR Molecular basis of phenotypic variation in patients with argininemia. 7649538 1995
Entrez Id: 9439
Gene Symbol: MED23
MED23 		0.100 CausalMutation phenotype CLINVAR Molecular basis of phenotypic variation in patients with argininemia. 7649538 1995
Entrez Id: 383
Gene Symbol: ARG1
ARG1 		1.000 CausalMutation phenotype CLINVAR Molecular genetic study of human arginase deficiency. 1598908 1992