Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
CUI: C3151468
Disease: PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1
PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1 		0.620 GeneticVariation BEFREE Here we used two different functional expression systems to characterize three Cx43 mutations linked to palmoplantar keratoderma and congenital alopecia-1, erythrokeratodermia variabilis et progressiva, or inflammatory linear verrucous epidermal nevus. 30631135

2019
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
CUI: C3151468
Disease: PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1
PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1 		0.620 GeneticVariation UNIPROT By performing whole-exome sequencing in a family with KHLS, we identified a heterozygous mutation (c.23G>T [p.Gly8Val]) in GJA1, which cosegregated with the phenotype in the family. 25168385

2015
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
CUI: C3151468
Disease: PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1
PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1 		0.620 Biomarker GENOMICS_ENGLAND Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital Dysplasia. 25398053

2015
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
CUI: C3151468
Disease: PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1
PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1 		0.620 GeneticVariation BEFREE By performing whole-exome sequencing in a family with KHLS, we identified a heterozygous mutation (c.23G>T [p.Gly8Val]) in GJA1, which cosegregated with the phenotype in the family. 25168385

2015
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
CUI: C3151468
Disease: PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1
PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1 		0.620 Biomarker GENOMICS_ENGLAND Functional characterization of a GJA1 frameshift mutation causing oculodentodigital dysplasia and palmoplantar keratoderma. 16891658

2006
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
CUI: C3151468
Disease: PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1
PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1 		0.620 Biomarker GENOMICS_ENGLAND

Entrez Id: 2697
Gene Symbol: GJA1
GJA1
CUI: C3151468
Disease: PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1
PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1 		0.620 CausalMutation CLINVAR