GJD2, gap junction protein delta 2, 57369

N. diseases: 29; N. variants: 1
Disease: Juvenile Myoclonic Epilepsy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0270853
Disease: Juvenile Myoclonic Epilepsy
Juvenile Myoclonic Epilepsy 		0.040 GeneticVariation disease BEFREE Of variants investigating in independent data sets, only rs2029461 SNP in GRM4, rs3743123 in CX36 and rs3918149 in BRD2 showed a significant association with JME in at least two different background populations. 28636645 2017
CUI: C0270853
Disease: Juvenile Myoclonic Epilepsy
Juvenile Myoclonic Epilepsy 		0.040 GeneticVariation disease BEFREE Three SNP alleles in BRD2, Cx-36, and ME2 and microdeletions in 15q13.3, 15q11.2, and 16p13.11 also contribute risk to JME. 23756480 2013
CUI: C0270853
Disease: Juvenile Myoclonic Epilepsy
Juvenile Myoclonic Epilepsy 		0.040 GeneticVariation disease LHGDN The present results provide confirmatory evidence for an allelic and genotypic association of the CX36 gene with JME. 16876983 2006
CUI: C0270853
Disease: Juvenile Myoclonic Epilepsy
Juvenile Myoclonic Epilepsy 		0.040 GeneticVariation disease BEFREE The present results provide confirmatory evidence for an allelic and genotypic association of the CX36 gene with JME. 16876983 2006
CUI: C0270853
Disease: Juvenile Myoclonic Epilepsy
Juvenile Myoclonic Epilepsy 		0.040 GeneticVariation disease LHGDN Association of the connexin36 gene with juvenile myoclonic epilepsy. 15235036 2004