GOSR2, golgi SNAP receptor complex member 2, 9570

N. diseases: 55; N. variants: 15
Disease: Cerebellar Ataxia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.030 GeneticVariation phenotype BEFREE A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia. 21549339 2011
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.030 GeneticVariation phenotype 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
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.030 GeneticVariation phenotype BEFREE The main clinical features of the GOSR2-associated PME are early-onset ataxia, areflexia, action myoclonus and seizures, scoliosis, elevated creatine kinase levels, relative preservation of cognitive function until the late stages of the disease, and relentless disease course. 27618868 2016