Source: CURATED ×
| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.700 | Biomarker | disease | GENOMICS_ENGLAND | Personalized medicine approach confirms a milder case of ABAT deficiency. | 27903293 | 2016 | ||||
|
0.700 | Biomarker | disease | GENOMICS_ENGLAND | Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. | 27604308 | 2016 | ||||
|
0.700 | Biomarker | disease | GENOMICS_ENGLAND | The GABA transaminase, ABAT, is essential for mitochondrial nucleoside metabolism. | 25738457 | 2015 | ||||
|
0.700 | GermlineCausalMutation | disease | ORPHANET | In an effort to elucidate the molecular basis of GABA-T deficiency, we isolated and characterized a 1.5 kb cDNA encoding human GABA-T, in addition to a 41 kb genomic clone which encompassed the GABA-T coding region. | 10407778 | 1999 | ||||
|
0.700 | Biomarker | disease | GENOMICS_ENGLAND | In an effort to elucidate the molecular basis of GABA-T deficiency, we isolated and characterized a 1.5 kb cDNA encoding human GABA-T, in addition to a 41 kb genomic clone which encompassed the GABA-T coding region. | 10407778 | 1999 | ||||
|
0.700 | Biomarker | disease | CTD_human | In an effort to elucidate the molecular basis of GABA-T deficiency, we isolated and characterized a 1.5 kb cDNA encoding human GABA-T, in addition to a 41 kb genomic clone which encompassed the GABA-T coding region. | 10407778 | 1999 | ||||
|
0.700 | GeneticVariation | disease | UNIPROT | In an effort to elucidate the molecular basis of GABA-T deficiency, we isolated and characterized a 1.5 kb cDNA encoding human GABA-T, in addition to a 41 kb genomic clone which encompassed the GABA-T coding region. | 10407778 | 1999 | ||||
|
0.700 | GermlineCausalMutation | disease | ORPHANET | Identification of a familial mutation associated with GABA-transaminase deficiency disease. | 9746906 | 1998 |