rs724159985, CDH3

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Macular dystrophy
CUI: C0730292
Disease: Macular dystrophy
0.700 CausalMutation CLINVAR Phenotypic diversity and mutation spectrum in hypotrichosis with juvenile macular dystrophy. 14708629 2003
Ectodermal dysplasia, ectrodactyly, and macular dystrophy
CUI: C1857041
Disease: Ectodermal dysplasia, ectrodactyly, and macular dystrophy
0.700 CausalMutation CLINVAR