Gene: GJC2 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 57165
Gene Symbol: GJC2
GJC2 		0.930 GeneticVariation disease BEFREE Here we present novel compound-heterozygous mutations in the GJC2 gene identified in two, unrelated infantile patients affected with PMLD1. 31270756 2019
Entrez Id: 57165
Gene Symbol: GJC2
GJC2 		0.930 Biomarker disease GENOMICS_ENGLAND A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies. 25655951 2015
Entrez Id: 57165
Gene Symbol: GJC2
GJC2 		0.930 GermlineCausalMutation disease ORPHANET GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease. 24374284 2014
Entrez Id: 57165
Gene Symbol: GJC2
GJC2 		0.930 Biomarker disease GENOMICS_ENGLAND A practical approach to diagnosing adult onset leukodystrophies. 24357685 2014
Entrez Id: 57165
Gene Symbol: GJC2
GJC2 		0.930 GermlineCausalMutation disease ORPHANET Expanded spectrum of Pelizaeus-Merzbacher-like disease: literature revision and description of a novel GJC2 mutation in an unusually severe form. 22669416 2013
Entrez Id: 57165
Gene Symbol: GJC2
GJC2 		0.930 Biomarker disease BEFREE Supportive therapy for patients with PMD/SPG2 and PMLD1/SPG44 includes medications for seizures and spasticity; physical therapy, exercise, and orthotics for spasticity management; surgery for contractures and scoliosis; gastrostomy for severe dysphagia; proper wheelchair seating, physical therapy, and orthotics to prevent or ameliorate the effects of scoliosis; special education; and assistive communication devices. 22422208 2012
Entrez Id: 57165
Gene Symbol: GJC2
GJC2 		0.930 Biomarker disease MGD These results strongly suggest that PMLD1 is caused by the loss of Cx47 channel function that results in impaired panglial coupling in white matter tissue. 21750683 2011
Entrez Id: 57165
Gene Symbol: GJC2
GJC2 		0.930 Biomarker disease BEFREE These results strongly suggest that PMLD1 is caused by the loss of Cx47 channel function that results in impaired panglial coupling in white matter tissue. 21750683 2011
Entrez Id: 57165
Gene Symbol: GJC2
GJC2 		0.930 Biomarker disease GENOMICS_ENGLAND Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations. 19056803 2009
Entrez Id: 57165
Gene Symbol: GJC2
GJC2 		0.930 Biomarker disease CTD_human Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy. 18571143 2008
Entrez Id: 57165
Gene Symbol: GJC2
GJC2 		0.930 Biomarker disease GENOMICS_ENGLAND GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease. 18094336 2008
Entrez Id: 57165
Gene Symbol: GJC2
GJC2 		0.930 CausalMutation disease CLINVAR Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease. 15192806 2004
Entrez Id: 57165
Gene Symbol: GJC2
GJC2 		0.930 GeneticVariation disease UNIPROT Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease. 15192806 2004
Entrez Id: 57165
Gene Symbol: GJC2
GJC2 		0.930 GeneticVariation disease CLINVAR
Entrez Id: 57165
Gene Symbol: GJC2
GJC2 		0.930 Biomarker disease GENOMICS_ENGLAND