rs28931593, GJB2

N. diseases: 9
Disease: Keratosis ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Keratosis
CUI: C0022593
Disease: Keratosis
0.010 GeneticVariation BEFREE The disease is not associated with palmar and plantar keratosis in any of the family members, suggesting that R75Q substitution is not sufficient for the development of the complete syndromic phenotype. 15996214 2005