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: rs146180696
rs146180696
Entrez Id: 55612
Gene Symbol: FERMT1
FERMT1
CUI: C0406557
Disease:
Poikiloderma of Kindler 		A 0.700 CausalMutation CLINVAR The Kindler syndrome: a spectrum of FERMT1 mutations in Iranian families. 25599393 2015
dbSNP: rs146180696
rs146180696
Entrez Id: 55612
Gene Symbol: FERMT1
FERMT1
CUI: C0406557
Disease:
Poikiloderma of Kindler 		A 0.700 CausalMutation CLINVAR Novel and recurrent FERMT1 gene mutations in Kindler syndrome. 21336475 2011
dbSNP: rs146180696
rs146180696
Entrez Id: 55612
Gene Symbol: FERMT1
FERMT1
CUI: C0406557
Disease:
Poikiloderma of Kindler 		A 0.700 CausalMutation CLINVAR Kindlin-1 Is required for RhoGTPase-mediated lamellipodia formation in keratinocytes. 19762715 2009
dbSNP: rs146180696
rs146180696
Entrez Id: 55612
Gene Symbol: FERMT1
FERMT1
CUI: C0406557
Disease:
Poikiloderma of Kindler 		A 0.700 CausalMutation CLINVAR Colocalization of kindlin-1, kindlin-2, and migfilin at keratinocyte focal adhesion and relevance to the pathophysiology of Kindler syndrome. 18528435 2008
dbSNP: rs146180696
rs146180696
Entrez Id: 55612
Gene Symbol: FERMT1
FERMT1
CUI: C0406557
Disease:
Poikiloderma of Kindler 		A 0.700 CausalMutation CLINVAR Characteristic immunohistochemical and ultrastructural findings indicate that Kindler's syndrome is an apoptotic skin disorder. 14507403 2003