| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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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 | |||||||
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0.810 | GeneticVariation | UNIPROT | Five novel mutations in ARG1 gene in Chinese patients of argininemia. | 23859858 | 2013 | |||||||
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0.810 | GeneticVariation | UNIPROT | Analysis of novel ARG1 mutations causing hyperargininemia and correlation with arginase I activity in erythrocytes. | 22959135 | 2012 | |||||||
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0.810 | GeneticVariation | UNIPROT | Molecular basis of phenotypic variation in patients with argininemia. | 7649538 | 1995 | |||||||
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0.810 | GeneticVariation | UNIPROT | Three novel mutations in the liver-type arginase gene in three unrelated Japanese patients with argininemia. | 1463019 | 1992 | |||||||
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C | 0.810 | CausalMutation | CLINVAR | |||||||||
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A | 0.800 | GeneticVariation | CLINVAR | Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency. | 27038030 | 2016 | ||||||
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0.800 | GeneticVariation | UNIPROT | Five novel mutations in ARG1 gene in Chinese patients of argininemia. | 23859858 | 2013 | |||||||
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0.800 | GeneticVariation | UNIPROT | Five novel mutations in ARG1 gene in Chinese patients of argininemia. | 23859858 | 2013 | |||||||
|
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|
A | 0.800 | GeneticVariation | CLINVAR | Five novel mutations in ARG1 gene in Chinese patients of argininemia. | 23859858 | 2013 | ||||||
|
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0.800 | GeneticVariation | UNIPROT | Analysis of novel ARG1 mutations causing hyperargininemia and correlation with arginase I activity in erythrocytes. | 22959135 | 2012 | |||||||
|
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0.800 | GeneticVariation | UNIPROT | Analysis of novel ARG1 mutations causing hyperargininemia and correlation with arginase I activity in erythrocytes. | 22959135 | 2012 | |||||||
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0.800 | GeneticVariation | GWASDB | A genome-wide association study on obesity and obesity-related traits. | 21552555 | 2011 | |||||||
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0.800 | GeneticVariation | GWASCAT | A genome-wide association study on obesity and obesity-related traits. | 21552555 | 2011 | |||||||
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A | 0.800 | GeneticVariation | CLINVAR | Functional consequences of the G235R mutation in liver arginase leading to hyperargininemia. | 11883902 | 2002 | ||||||
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A | 0.800 | GeneticVariation | CLINVAR | Loss of function mutations in conserved regions of the human arginase I gene. | 8902193 | 1996 | ||||||
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0.800 | GeneticVariation | UNIPROT | Molecular basis of phenotypic variation in patients with argininemia. | 7649538 | 1995 | |||||||
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|
|
0.800 | GeneticVariation | UNIPROT | Molecular basis of phenotypic variation in patients with argininemia. | 7649538 | 1995 | |||||||
|
|
|
A | 0.800 | GeneticVariation | CLINVAR | Molecular basis of phenotypic variation in patients with argininemia. | 7649538 | 1995 | ||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | Three novel mutations in the liver-type arginase gene in three unrelated Japanese patients with argininemia. | 1463019 | 1992 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | Three novel mutations in the liver-type arginase gene in three unrelated Japanese patients with argininemia. | 1463019 | 1992 | |||||||
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|
T | 0.800 | CausalMutation | CLINVAR | |||||||||
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C | 0.800 | CausalMutation | CLINVAR | |||||||||
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T | 0.710 | CausalMutation | CLINVAR | Arginase I deficiency: severe infantile presentation with hyperammonemia: more common than reported? | 21802329 | 2012 | ||||||
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0.710 | GeneticVariation | BEFREE | Identification of a novel R21X mutation in the liver-type arginase gene (ARG1) in four Portuguese patients with argininemia. | 10502833 | 1999 |