rs869312718
×
Entrez Id:
55612
Gene Symbol:
FERMT1
FERMT1
Poikiloderma of Kindler
0.800
GeneticVariation
UNIPROT
Kindler syndrome: extension of FERMT1 mutational spectrum and natural history.
21936020
2011
rs869312719
×
Entrez Id:
55612
Gene Symbol:
FERMT1
FERMT1
Poikiloderma of Kindler
0.800
GeneticVariation
UNIPROT
Kindler syndrome: extension of FERMT1 mutational spectrum and natural history.
21936020
2011
rs869312718
×
Entrez Id:
55612
Gene Symbol:
FERMT1
FERMT1
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
rs869312718
×
Entrez Id:
55612
Gene Symbol:
FERMT1
FERMT1
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
rs869312719
×
Entrez Id:
55612
Gene Symbol:
FERMT1
FERMT1
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
rs869312719
×
Entrez Id:
55612
Gene Symbol:
FERMT1
FERMT1
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
rs869312718
×
Entrez Id:
55612
Gene Symbol:
FERMT1
FERMT1
Poikiloderma of Kindler
G
0.800
CausalMutation
CLINVAR
rs869312719
×
Entrez Id:
55612
Gene Symbol:
FERMT1
FERMT1
Poikiloderma of Kindler
G
0.800
CausalMutation
CLINVAR
rs121918293
×
Entrez Id:
55612
Gene Symbol:
FERMT1
FERMT1
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
rs121918293
×
Entrez Id:
55612
Gene Symbol:
FERMT1
FERMT1
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
rs121918293
×
Entrez Id:
55612
Gene Symbol:
FERMT1
FERMT1
Poikiloderma of Kindler
A
0.710
CausalMutation
CLINVAR
Kindler syndrome in native Americans from Panama: report of 26 cases.
15313809
2004
rs121918293
×
Entrez Id:
55612
Gene Symbol:
FERMT1
FERMT1
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
rs4256018
×
Entrez Id:
55612
Gene Symbol:
FERMT1
FERMT1
Inflammatory Bowel Diseases
G
0.700
GeneticVariation
GWASCAT
Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease.
28067908
2017
rs4256018
×
Entrez Id:
55612
Gene Symbol:
FERMT1
FERMT1
Crohn Disease
0.700
GeneticVariation
GWASCAT
Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease.
28067908
2017
rs142328166
×
Entrez Id:
55612
Gene Symbol:
FERMT1
FERMT1
Poikiloderma of Kindler
T
0.700
CausalMutation
CLINVAR
The Kindler syndrome: a spectrum of FERMT1 mutations in Iranian families.
25599393
2015
rs146180696
×
Entrez Id:
55612
Gene Symbol:
FERMT1
FERMT1
Poikiloderma of Kindler
A
0.700
CausalMutation
CLINVAR
The Kindler syndrome: a spectrum of FERMT1 mutations in Iranian families.
25599393
2015
rs779612399
×
Entrez Id:
55612
Gene Symbol:
FERMT1
FERMT1
Poikiloderma of Kindler
C
0.700
CausalMutation
CLINVAR
The Kindler syndrome: a spectrum of FERMT1 mutations in Iranian families.
25599393
2015
rs866141540
×
Entrez Id:
55612
Gene Symbol:
FERMT1
FERMT1
Poikiloderma of Kindler
C
0.700
CausalMutation
CLINVAR
The Kindler syndrome: a spectrum of FERMT1 mutations in Iranian families.
25599393
2015
rs869312722
×
Entrez Id:
55612
Gene Symbol:
FERMT1
FERMT1
Poikiloderma of Kindler
C
0.700
CausalMutation
CLINVAR
FERMT1 promoter mutations in patients with Kindler syndrome.
25156791
2015
rs869312724
×
Entrez Id:
55612
Gene Symbol:
FERMT1
FERMT1
Poikiloderma of Kindler
CT
0.700
CausalMutation
CLINVAR
The Kindler syndrome: a spectrum of FERMT1 mutations in Iranian families.
25599393
2015
rs869312725
×
Entrez Id:
55612
Gene Symbol:
FERMT1
FERMT1
Poikiloderma of Kindler
T
0.700
CausalMutation
CLINVAR
The Kindler syndrome: a spectrum of FERMT1 mutations in Iranian families.
25599393
2015
rs869312727
×
Entrez Id:
55612
Gene Symbol:
FERMT1
FERMT1
Poikiloderma of Kindler
G
0.700
CausalMutation
CLINVAR
The Kindler syndrome: a spectrum of FERMT1 mutations in Iranian families.
25599393
2015
rs869312730
×
Entrez Id:
55612
Gene Symbol:
FERMT1
FERMT1
Poikiloderma of Kindler
C
0.700
CausalMutation
CLINVAR
The Kindler syndrome: a spectrum of FERMT1 mutations in Iranian families.
25599393
2015
rs146180696
×
Entrez Id:
55612
Gene Symbol:
FERMT1
FERMT1
Poikiloderma of Kindler
A
0.700
CausalMutation
CLINVAR
Novel and recurrent FERMT1 gene mutations in Kindler syndrome.
21336475
2011
rs146180696
×
Entrez Id:
55612
Gene Symbol:
FERMT1
FERMT1
Poikiloderma of Kindler
A
0.700
CausalMutation
CLINVAR
Kindlin-1 Is required for RhoGTPase-mediated lamellipodia formation in keratinocytes.
19762715
2009