rs780261665, COL7A1

N. diseases: 9
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Syndactyly of the toes
CUI: C0265660
Disease: Syndactyly of the toes
0.700 CausalMutation CLINVAR
Skin Erosion
CUI: C3887524
Disease: Skin Erosion
0.700 CausalMutation CLINVAR
Syndactyly of fingers
CUI: C0221352
Disease: Syndactyly of fingers
0.700 CausalMutation CLINVAR
Dystrophia unguium
CUI: C0221260
Disease: Dystrophia unguium
0.700 CausalMutation CLINVAR
Short stature
CUI: C0349588
Disease: Short stature
0.700 CausalMutation CLINVAR
Palmoplantar blistering
CUI: C4024876
Disease: Palmoplantar blistering
0.700 CausalMutation CLINVAR
Skin Abnormalities
CUI: C0037268
Disease: Skin Abnormalities
0.700 CausalMutation CLINVAR
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4
CUI: C3277900
Disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4
0.700 CausalMutation CLINVAR
Abnormal blistering of the skin
CUI: C2132198
Disease: Abnormal blistering of the skin
0.700 CausalMutation CLINVAR