Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1
CUI: C4551486
Disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1
0.800 GeneticVariation UNIPROT The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3. 10798362 2000
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1
CUI: C4551486
Disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1
0.800 GeneticVariation UNIPROT Identification of a novel mutation R42P in the gap junction protein beta-3 associated with autosomal dominant erythrokeratoderma variabilis. 10594760 1999
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1
CUI: C4551486
Disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1
0.800 GeneticVariation UNIPROT Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis. 9843209 1998
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1
CUI: C4551486
Disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1
0.800 CausalMutation CLINVAR
Peripheral Neuropathy
CUI: C0031117
Disease: Peripheral Neuropathy
0.010 GeneticVariation BEFREE The Cx31 mutants (R42P)Cx31, (C86S)Cx31 and (G12D)Cx31 are associated with EKV and the mutant (66delD)Cx31 with peripheral neuropathy and hearing loss, however the mechanisms of pathogenesis remain to be elucidated. 19755382 2009
Peripheral Nervous System Diseases
CUI: C4721453
Disease: Peripheral Nervous System Diseases
0.010 GeneticVariation BEFREE The Cx31 mutants (R42P)Cx31, (C86S)Cx31 and (G12D)Cx31 are associated with EKV and the mutant (66delD)Cx31 with peripheral neuropathy and hearing loss, however the mechanisms of pathogenesis remain to be elucidated. 19755382 2009