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: rs869312718
rs869312718
Entrez Id: 55612
Gene Symbol: FERMT1
FERMT1
CUI: C0406557
Disease:
Poikiloderma of Kindler 		0.800 GeneticVariation UNIPROT Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome. 12789646 2003
dbSNP: rs869312718
rs869312718
Entrez Id: 55612
Gene Symbol: FERMT1
FERMT1
CUI: C0406557
Disease:
Poikiloderma of Kindler 		0.800 GeneticVariation UNIPROT Kindler syndrome: extension of FERMT1 mutational spectrum and natural history. 21936020 2011
dbSNP: rs869312718
rs869312718
Entrez Id: 55612
Gene Symbol: FERMT1
FERMT1
CUI: C0406557
Disease:
Poikiloderma of Kindler 		0.800 GeneticVariation UNIPROT Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome. 12668616 2003
dbSNP: rs869312718
rs869312718
Entrez Id: 55612
Gene Symbol: FERMT1
FERMT1
CUI: C0406557
Disease:
Poikiloderma of Kindler 		G 0.800 CausalMutation CLINVAR
dbSNP: rs869312719
rs869312719
Entrez Id: 55612
Gene Symbol: FERMT1
FERMT1
CUI: C0406557
Disease:
Poikiloderma of Kindler 		0.800 GeneticVariation UNIPROT Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome. 12789646 2003
dbSNP: rs869312719
rs869312719
Entrez Id: 55612
Gene Symbol: FERMT1
FERMT1
CUI: C0406557
Disease:
Poikiloderma of Kindler 		0.800 GeneticVariation UNIPROT Kindler syndrome: extension of FERMT1 mutational spectrum and natural history. 21936020 2011
dbSNP: rs869312719
rs869312719
Entrez Id: 55612
Gene Symbol: FERMT1
FERMT1
CUI: C0406557
Disease:
Poikiloderma of Kindler 		0.800 GeneticVariation UNIPROT Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome. 12668616 2003
dbSNP: rs869312719
rs869312719
Entrez Id: 55612
Gene Symbol: FERMT1
FERMT1
CUI: C0406557
Disease:
Poikiloderma of Kindler 		G 0.800 CausalMutation CLINVAR
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 Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome. 12789646 2003
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 Kindler syndrome in native Americans from Panama: report of 26 cases. 15313809 2004
dbSNP: rs121918292
rs121918292
Entrez Id: 55612
Gene Symbol: FERMT1
FERMT1
CUI: C0406557
Disease:
Poikiloderma of Kindler 		A 0.700 CausalMutation CLINVAR
dbSNP: rs121918294
rs121918294
Entrez Id: 55612
Gene Symbol: FERMT1
FERMT1
CUI: C0406557
Disease:
Poikiloderma of Kindler 		A 0.700 CausalMutation CLINVAR
dbSNP: rs142328166
rs142328166
Entrez Id: 55612
Gene Symbol: FERMT1
FERMT1
CUI: C0406557
Disease:
Poikiloderma of Kindler 		T 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 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 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 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 Characteristic immunohistochemical and ultrastructural findings indicate that Kindler's syndrome is an apoptotic skin disorder. 14507403 2003
dbSNP: rs1568654138
rs1568654138
Entrez Id: 55612
Gene Symbol: FERMT1
FERMT1
CUI: C0406557
Disease:
Poikiloderma of Kindler 		AT 0.700 CausalMutation CLINVAR
dbSNP: rs1568664492
rs1568664492
Entrez Id: 55612
Gene Symbol: FERMT1
FERMT1
CUI: C0406557
Disease:
Poikiloderma of Kindler 		A 0.700 CausalMutation CLINVAR
dbSNP: rs748240859
rs748240859
Entrez Id: 55612
Gene Symbol: FERMT1
FERMT1
CUI: C0406557
Disease:
Poikiloderma of Kindler 		TG 0.700 CausalMutation CLINVAR
dbSNP: rs779612399
rs779612399
Entrez Id: 55612
Gene Symbol: FERMT1
FERMT1
CUI: C0406557
Disease:
Poikiloderma of Kindler 		C 0.700 CausalMutation CLINVAR The Kindler syndrome: a spectrum of FERMT1 mutations in Iranian families. 25599393 2015
dbSNP: rs866141540
rs866141540
Entrez Id: 55612
Gene Symbol: FERMT1
FERMT1
CUI: C0406557
Disease:
Poikiloderma of Kindler 		C 0.700 CausalMutation CLINVAR The Kindler syndrome: a spectrum of FERMT1 mutations in Iranian families. 25599393 2015