Source: LHGDN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C0022596
Disease: Palmoplantar Keratosis
Palmoplantar Keratosis 		0.130 GeneticVariation LHGDN A novel missense mutation in the second extracellular domain of GJB2, p.Ser183Phe, causes a syndrome of focal palmoplantar keratoderma with deafness. 18787097

2008
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C0022596
Disease: Palmoplantar Keratosis
Palmoplantar Keratosis 		0.130 GeneticVariation LHGDN A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness. 17993581

2008