GOSR2, golgi SNAP receptor complex member 2, 9570

N. diseases: 55; N. variants: 15
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3279627
Disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 6
EPILEPSY, PROGRESSIVE MYOCLONIC, 6 		0.700 Biomarker disease GENOMICS_ENGLAND Prevalence of ataxia in children: a systematic review. 24285620 2014
CUI: C3279627
Disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 6
EPILEPSY, PROGRESSIVE MYOCLONIC, 6 		0.700 Biomarker disease GENOMICS_ENGLAND 'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation. 23449775 2013
CUI: C3279627
Disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 6
EPILEPSY, PROGRESSIVE MYOCLONIC, 6 		0.700 Biomarker disease GENOMICS_ENGLAND A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia. 21549339 2011
CUI: C3279627
Disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 6
EPILEPSY, PROGRESSIVE MYOCLONIC, 6 		0.700 GermlineCausalMutation disease ORPHANET A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia. 21549339 2011
CUI: C3279627
Disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 6
EPILEPSY, PROGRESSIVE MYOCLONIC, 6 		0.700 GeneticVariation disease UNIPROT A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia. 21549339 2011
CUI: C3279627
Disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 6
EPILEPSY, PROGRESSIVE MYOCLONIC, 6 		0.700 CausalMutation disease CLINVAR
CUI: C3279627
Disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 6
EPILEPSY, PROGRESSIVE MYOCLONIC, 6 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C0751778
Disease: Myoclonic Epilepsies, Progressive
Myoclonic Epilepsies, Progressive 		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
CUI: C0751778
Disease: Myoclonic Epilepsies, Progressive
Myoclonic Epilepsies, Progressive 		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
CUI: C0751778
Disease: Myoclonic Epilepsies, Progressive
Myoclonic Epilepsies, Progressive 		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
CUI: C0751778
Disease: Myoclonic Epilepsies, Progressive
Myoclonic Epilepsies, Progressive 		0.450 GeneticVariation disease BEFREE 'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation. 23449775 2013
CUI: C0751778
Disease: Myoclonic Epilepsies, Progressive
Myoclonic Epilepsies, Progressive 		0.450 GeneticVariation disease CLINVAR A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia. 21549339 2011
CUI: C0751778
Disease: Myoclonic Epilepsies, Progressive
Myoclonic Epilepsies, Progressive 		0.450 GeneticVariation disease BEFREE A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia. 21549339 2011
CUI: C0751778
Disease: Myoclonic Epilepsies, Progressive
Myoclonic Epilepsies, Progressive 		0.450 Biomarker disease CTD_human
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.400 GeneticVariation disease GWASCAT Multi-ethnic genome-wide association study for atrial fibrillation. 29892015 2018
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.400 Biomarker disease CTD_human Multi-ethnic genome-wide association study for atrial fibrillation. 29892015 2018
CUI: C0235480
Disease: Paroxysmal atrial fibrillation
Paroxysmal atrial fibrillation 		0.300 Biomarker disease CTD_human Multi-ethnic genome-wide association study for atrial fibrillation. 29892015 2018
CUI: C2585653
Disease: Persistent atrial fibrillation
Persistent atrial fibrillation 		0.300 Biomarker phenotype CTD_human Multi-ethnic genome-wide association study for atrial fibrillation. 29892015 2018
CUI: C3468561
Disease: familial atrial fibrillation
familial atrial fibrillation 		0.300 Biomarker phenotype CTD_human Multi-ethnic genome-wide association study for atrial fibrillation. 29892015 2018
CUI: C0751776
Disease: Atypical Inclusion-Body Disease
Atypical Inclusion-Body Disease 		0.300 Biomarker disease CTD_human
CUI: C0751777
Disease: Familial Progressive Myoclonic Epilepsy
Familial Progressive Myoclonic Epilepsy 		0.300 Biomarker disease CTD_human
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
Action Myoclonus-Renal Failure Syndrome 		0.300 Biomarker disease CTD_human
CUI: C0751780
Disease: Biotin-Responsive Encephalopathy
Biotin-Responsive Encephalopathy 		0.300 Biomarker disease CTD_human
CUI: C0751781
Disease: Dentatorubral-Pallidoluysian Atrophy
Dentatorubral-Pallidoluysian Atrophy 		0.300 Biomarker disease CTD_human
CUI: C0751782
Disease: May-White Syndrome
May-White Syndrome 		0.300 Biomarker disease CTD_human