DisGeNET - a database of gene-disease associations

Poikiloderma of Kindler, C0406557

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs869312718

FERMT1

0.800

GeneticVariation

UNIPROT

Kindler syndrome: extension of FERMT1 mutational spectrum and natural history.

21936020

2011

dbSNP:

rs869312719

FERMT1

0.800

GeneticVariation

UNIPROT

Kindler syndrome: extension of FERMT1 mutational spectrum and natural history.

21936020

2011

dbSNP:

rs869312718

FERMT1

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

FERMT1

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

FERMT1

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

FERMT1

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

FERMT1

0.800

CausalMutation

CLINVAR

dbSNP:

rs869312719

FERMT1

0.800

CausalMutation

CLINVAR

dbSNP:

rs121918293

FERMT1

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

FERMT1

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

FERMT1

0.710

CausalMutation

CLINVAR

Kindler syndrome in native Americans from Panama: report of 26 cases.

15313809

2004

dbSNP:

rs121918293

FERMT1

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:

rs142328166

FERMT1

0.700

CausalMutation

CLINVAR

The Kindler syndrome: a spectrum of FERMT1 mutations in Iranian families.

25599393

2015

dbSNP:

rs146180696

FERMT1

0.700

CausalMutation

CLINVAR

The Kindler syndrome: a spectrum of FERMT1 mutations in Iranian families.

25599393

2015

dbSNP:

rs779612399

FERMT1

0.700

CausalMutation

CLINVAR

The Kindler syndrome: a spectrum of FERMT1 mutations in Iranian families.

25599393

2015

dbSNP:

rs866141540

FERMT1

0.700

CausalMutation

CLINVAR

The Kindler syndrome: a spectrum of FERMT1 mutations in Iranian families.

25599393

2015

dbSNP:

rs869312722

FERMT1

0.700

CausalMutation

CLINVAR

FERMT1 promoter mutations in patients with Kindler syndrome.

25156791

2015

dbSNP:

rs869312724

FERMT1

0.700

CausalMutation

CLINVAR

The Kindler syndrome: a spectrum of FERMT1 mutations in Iranian families.

25599393

2015

dbSNP:

rs869312725

FERMT1

0.700

CausalMutation

CLINVAR

The Kindler syndrome: a spectrum of FERMT1 mutations in Iranian families.

25599393

2015

dbSNP:

rs869312727

FERMT1

0.700

CausalMutation

CLINVAR

The Kindler syndrome: a spectrum of FERMT1 mutations in Iranian families.

25599393

2015

dbSNP:

rs869312730

FERMT1

0.700

CausalMutation

CLINVAR

The Kindler syndrome: a spectrum of FERMT1 mutations in Iranian families.

25599393

2015

dbSNP:

rs146180696

FERMT1

0.700

CausalMutation

CLINVAR

Novel and recurrent FERMT1 gene mutations in Kindler syndrome.

21336475

2011

dbSNP:

rs146180696

FERMT1

0.700

CausalMutation

CLINVAR

Kindlin-1 Is required for RhoGTPase-mediated lamellipodia formation in keratinocytes.

19762715

2009

dbSNP:

rs146180696

FERMT1

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:

rs869312731

FERMT1

0.700

CausalMutation

CLINVAR

In this study, we identified four new recurrent mutations in KIND1 in 16 individuals with Kindler syndrome from 13 families of Pakistani (676insC), UK Caucasian (E304X), Omani (W616X), or Italian (958-1G > A) origins.

14962093

2004