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 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
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