FERMT1, fermitin family member 1, 55612

N. diseases: 104; N. variants: 27
Disease: Poikiloderma of Kindler ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs869312722
rs869312722
Entrez Id: 55612
Gene Symbol: FERMT1
FERMT1
CUI: C0406557
Disease:
Poikiloderma of Kindler 		C 0.700 CausalMutation CLINVAR FERMT1 promoter mutations in patients with Kindler syndrome. 25156791 2015