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: rs121918293
rs121918293
Entrez Id: 55612
Gene Symbol: FERMT1
FERMT1
CUI: C0406557
Disease:
Poikiloderma of Kindler 		0.710 GeneticVariation BEFREE In this case, a combination of a known mutation (R271X) and a newly described mutation (1755delT) in the KIND1 gene produced loss of function in kindlin-1, leading to the clinical features of KS. 16702500 2006
dbSNP: rs121918293
rs121918293
Entrez Id: 55612
Gene Symbol: FERMT1
FERMT1
CUI: C0406557
Disease:
Poikiloderma of Kindler 		A 0.710 CausalMutation CLINVAR Recurrent mutations in kindlin-1, a novel keratinocyte focal contact protein, in the autosomal recessive skin fragility and photosensitivity disorder, Kindler syndrome. 14962093 2004
dbSNP: rs121918293
rs121918293
Entrez Id: 55612
Gene Symbol: FERMT1
FERMT1
CUI: C0406557
Disease:
Poikiloderma of Kindler 		A 0.710 CausalMutation CLINVAR Kindler syndrome in native Americans from Panama: report of 26 cases. 15313809 2004
dbSNP: rs121918293
rs121918293
Entrez Id: 55612
Gene Symbol: FERMT1
FERMT1
CUI: C0406557
Disease:
Poikiloderma of Kindler 		A 0.710 CausalMutation CLINVAR Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome. 12789646 2003