| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.090 | Biomarker | disease | BEFREE | Structure of P-protein of the glycine cleavage system: implications for nonketotic hyperglycinemia. | 15791207 | 2005 | ||||
|
0.090 | GeneticVariation | disease | BEFREE | A defect in the P-protein component of the glycine cleavage system has been the most frequent abnormality found in patients with glycine encephalopathy (NKH). | 12948742 | 2003 | ||||
|
0.090 | GeneticVariation | disease | BEFREE | Novel mutations in the P-protein (glycine decarboxylase) gene in patients with glycine encephalopathy (non-ketotic hyperglycinemia). | 12126939 | 2002 | ||||
|
0.090 | GeneticVariation | disease | BEFREE | Screening a DNA bank from 50 patients with enzymatic confirmation of their diagnosis of nonketotic hyperglycinemia gave allele frequencies of 5% for R515S of P-protein (glycine decarboxylase) and 7% for R320H of T-protein (aminomethyltransferase). | 11286506 | 2001 | ||||
|
0.090 | GeneticVariation | disease | BEFREE | Molecular analysis of NKH has identified two prevalent mutations to date; the S564I mutation in a gene encoding the P-protein, a component of the GCS, in a Finnish population, and the H42R mutation in a gene encoding the T-protein in the Israeli-Arab population. | 10451514 | 1999 | ||||
|
0.090 | Biomarker | disease | BEFREE | Our study revealed that the majority of NKH patients had a specific defect in P-protein (glycine decarboxylase). | 8412015 | 1993 | ||||
|
0.090 | Biomarker | disease | BEFREE | Our study revealed that the majority of NKH patients had a specific defect in P-protein (glycine decarboxylase). | 1396281 | 1992 | ||||
|
0.090 | GeneticVariation | disease | BEFREE | Furthermore, this mutation was present in 70% (14 of 20) of P protein gene alleles in Finnish patients with NKH, whereas it was not found in 20 alleles of non-Finnish patients. | 1634607 | 1992 | ||||
|
0.090 | Biomarker | disease | BEFREE | We studied the structure of the mutant P-protein mRNA expressed in the liver of a patient with nonketotic hyperglycinemia (NKH) deficient of P-protein. | 1996985 | 1991 |