GPT2, glutamic--pyruvic transaminase 2, 84706

N. diseases: 63; N. variants: 4
Disease: Movement Disorders ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1437184398
rs1437184398
Entrez Id: 84706
Gene Symbol: GPT2
GPT2
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR Novel compound heterozygous mutations in GPT2 linked to microcephaly, and intellectual developmental disability with or without spastic paraplegia. 29226631 2018
dbSNP: rs1437184398
rs1437184398
Entrez Id: 84706
Gene Symbol: GPT2
GPT2
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR A Homozygous Mutation in GPT2 Associated with Nonsyndromic Intellectual Disability in a Consanguineous Family from Costa Rica. 28130718 2017
dbSNP: rs1437184398
rs1437184398
Entrez Id: 84706
Gene Symbol: GPT2
GPT2
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features. 27601654 2016
dbSNP: rs1437184398
rs1437184398
Entrez Id: 84706
Gene Symbol: GPT2
GPT2
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR Loss of function mutation in glutamic pyruvate transaminase 2 (GPT2) causes developmental encephalopathy. 25758935 2015
dbSNP: rs1437184398
rs1437184398
Entrez Id: 84706
Gene Symbol: GPT2
GPT2
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR The usefulness of whole-exome sequencing in routine clinical practice. 24901346 2014