GJB3, gap junction protein beta 3, 2707

N. diseases: 79; N. variants: 16
Disease: Hyperkeratosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0870082
Disease: Hyperkeratosis
Hyperkeratosis 		0.010 GeneticVariation disease BEFREE Affected individuals of two unrelated families harbored point mutations leading to amino acid substitution F137L, which was also reported in GJB3, yet the extent and severity of hyperkeratosis was milder compared to the corresponding mutation in GJB3. 12648223 2003