Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 84706
Gene Symbol: GPT2
GPT2
0.420 GeneticVariation disease BEFREE GPT2 mutations cause developmental encephalopathy with microcephaly and features of complicated hereditary spastic paraplegia. 29882329 2018
Entrez Id: 84706
Gene Symbol: GPT2
GPT2
0.420 GeneticVariation disease BEFREE Novel compound heterozygous mutations in GPT2 linked to microcephaly, and intellectual developmental disability with or without spastic paraplegia. 29226631 2018
Entrez Id: 84706
Gene Symbol: GPT2
GPT2
0.420 Biomarker disease GENOMICS_ENGLAND Loss of function mutation in glutamic pyruvate transaminase 2 (GPT2) causes developmental encephalopathy. 25758935 2015
Entrez Id: 84706
Gene Symbol: GPT2
GPT2
0.420 Biomarker disease HPO