Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2705
Gene Symbol: GJB1
GJB1
CUI: C0151313
Disease: Sensory neuropathy
Sensory neuropathy
0.110 GeneticVariation BEFREE Charcot-Marie-Tooth disease type 1X (CMT1X) is an X-linked dominant hereditary motor-sensory peripheral neuropathy, which results from mutations in the Gap Junction B1 (GJB1) gene. 24724718

2015

Entrez Id: 2705
Gene Symbol: GJB1
GJB1
CUI: C0151313
Disease: Sensory neuropathy
Sensory neuropathy
0.110 Biomarker HPO

Entrez Id: 2705
Gene Symbol: GJB1
GJB1
CUI: C0151313
Disease: Sensory neuropathy
Sensory neuropathy
0.110 GeneticVariation CLINVAR