Gene: GOSR2 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9570
Gene Symbol: GOSR2
GOSR2 		0.450 GeneticVariation disease BEFREE Mis-sense mutations in GOSR2 result in Progressive Myoclonus Epilepsy (PME), a severe neurological disorder characterised by ataxia, myoclonus and seizures in the absence of significant cognitive impairment. 30954670 2019
Entrez Id: 9570
Gene Symbol: GOSR2
GOSR2 		0.450 Biomarker disease BEFREE Mutations in the Golgi SNARE (SNAP [soluble NSF attachment protein] receptor) protein Membrin (encoded by the GOSR2 gene) cause progressive myoclonus epilepsy (PME). 28978487 2017
Entrez Id: 9570
Gene Symbol: GOSR2
GOSR2 		0.450 GeneticVariation disease BEFREE Functional assays for the assessment of the pathogenicity of variants of GOSR2, an ER-to-Golgi SNARE involved in progressive myoclonus epilepsies. 28982678 2017
Entrez Id: 9570
Gene Symbol: GOSR2
GOSR2 		0.450 GeneticVariation disease BEFREE 'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation. 23449775 2013
Entrez Id: 9570
Gene Symbol: GOSR2
GOSR2 		0.450 GeneticVariation disease CLINVAR A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia. 21549339 2011
Entrez Id: 9570
Gene Symbol: GOSR2
GOSR2 		0.450 GeneticVariation disease BEFREE A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia. 21549339 2011
Entrez Id: 9570
Gene Symbol: GOSR2
GOSR2 		0.450 Biomarker disease CTD_human