Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2707
Gene Symbol: GJB3
GJB3
0.600 Biomarker disease GENOMICS_ENGLAND The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3. 10798362 2000
Entrez Id: 2707
Gene Symbol: GJB3
GJB3
0.600 GeneticVariation disease UNIPROT The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3. 10798362 2000
Entrez Id: 2707
Gene Symbol: GJB3
GJB3
0.600 GeneticVariation disease UNIPROT Identification of a novel mutation R42P in the gap junction protein beta-3 associated with autosomal dominant erythrokeratoderma variabilis. 10594760 1999
Entrez Id: 2707
Gene Symbol: GJB3
GJB3
0.600 Biomarker disease GENOMICS_ENGLAND Identification of a novel mutation R42P in the gap junction protein beta-3 associated with autosomal dominant erythrokeratoderma variabilis. 10594760 1999
Entrez Id: 2707
Gene Symbol: GJB3
GJB3
0.600 GeneticVariation disease UNIPROT Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis. 9843209 1998
Entrez Id: 2707
Gene Symbol: GJB3
GJB3
0.600 Biomarker disease GENOMICS_ENGLAND Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis. 9843209 1998
Entrez Id: 2707
Gene Symbol: GJB3
GJB3
0.600 Biomarker disease GENOMICS_ENGLAND Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment. 9843210 1998
Entrez Id: 2707
Gene Symbol: GJB3
GJB3
0.600 CausalMutation disease CLINVAR
Entrez Id: 2707
Gene Symbol: GJB3
GJB3
0.600 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
0.300 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 113444
Gene Symbol: SMIM12
SMIM12
0.100 CausalMutation disease CLINVAR