| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.810 | GeneticVariation | UNIPROT | Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease. | 28244183 | 2017 |
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|
0.810 | GeneticVariation | UNIPROT | A novel AMT gene mutation in a newborn with nonketotic hyperglycinemia and early myoclonic encephalopathy. | 26371980 | 2016 |
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|
0.810 | GeneticVariation | UNIPROT | Crystal structure of human T-protein of glycine cleavage system at 2.0 A resolution and its implication for understanding non-ketotic hyperglycinemia. | 16051266 | 2005 |
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|
0.810 | GeneticVariation | UNIPROT | Recurrent mutations in P- and T-proteins of the glycine cleavage complex and a novel T-protein mutation (N145I): a strategy for the molecular investigation of patients with nonketotic hyperglycinemia (NKH). | 11286506 | 2001 |
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|
0.810 | GeneticVariation | UNIPROT | Biochemical and molecular investigations of patients with nonketotic hyperglycinemia. | 10873393 | 2000 |
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|
0.810 | GeneticVariation | UNIPROT | Genotype analyses of 26 family members confirmed that the homozygous H42R mutation was completely associated with the onset of NKH. | 9600239 | 1998 |
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|
0.810 | GeneticVariation | UNIPROT | A one-base deletion (183delC) and a missense mutation (D276H) in the T-protein gene from a Japanese family with nonketotic hyperglycinemia. | 9621520 | 1998 |
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|
0.810 | GeneticVariation | BEFREE | Genotype analyses of 26 family members confirmed that the homozygous H42R mutation was completely associated with the onset of NKH. | 9600239 | 1998 |
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|
0.810 | GeneticVariation | UNIPROT | Identification of the mutations in the T-protein gene causing typical and atypical nonketotic hyperglycinemia. | 8005589 | 1994 |
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|
C | 0.810 | CausalMutation | CLINVAR |