FERMT1, fermitin family member 1, 55612

N. diseases: 104; N. variants: 27
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0406557
Disease: Poikiloderma of Kindler
Poikiloderma of Kindler 		1.000 GeneticVariation disease BEFREE Individuals with Kindler syndrome (KS) have loss-of-function mutations in the FERMT1 gene that encodes the focal adhesion component kindlin-1. 23278235 2013
CUI: C0406557
Disease: Poikiloderma of Kindler
Poikiloderma of Kindler 		1.000 GeneticVariation disease BEFREE We report the clinical features of an 11-year-old boy with Kindler syndrome from a consanguineous Indian family and the identification of a homozygous nonsense mutation (C468X) in exon 12 of the KIND1 gene in his genomic DNA. 15807691 2005
CUI: C0406557
Disease: Poikiloderma of Kindler
Poikiloderma of Kindler 		1.000 GeneticVariation disease UNIPROT Kindler syndrome: extension of FERMT1 mutational spectrum and natural history. 21936020 2011
CUI: C0406557
Disease: Poikiloderma of Kindler
Poikiloderma of Kindler 		1.000 GeneticVariation disease BEFREE 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
CUI: C0406557
Disease: Poikiloderma of Kindler
Poikiloderma of Kindler 		1.000 GeneticVariation disease BEFREE The mutations analysis of 15 coding exons of KIND1 gene was performed with PCR-SSCP and direct sequencing in 14 subjects from one Iranian family clinically affected with Kindler syndrome. 27293055 2016
CUI: C0406557
Disease: Poikiloderma of Kindler
Poikiloderma of Kindler 		1.000 GeneticVariation disease 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
CUI: C0406557
Disease: Poikiloderma of Kindler
Poikiloderma of Kindler 		1.000 GeneticVariation disease BEFREE Immunofluorescence study showed positive expression of kindlin-1 in KS skin with c.1089del/1089+1del mutation. 21146372 2011
CUI: C0406557
Disease: Poikiloderma of Kindler
Poikiloderma of Kindler 		1.000 GeneticVariation disease UNIPROT Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome. 12668616 2003
CUI: C0406557
Disease: Poikiloderma of Kindler
Poikiloderma of Kindler 		1.000 GeneticVariation disease BEFREE Loss-of-function mutations in KIND1 and KIND3 cause Kindler syndrome and leukocyte adhesion deficiency-III syndrome, respectively, although no human disease has yet been associated with KIND2 gene pathology. 19854292 2010
CUI: C0406557
Disease: Poikiloderma of Kindler
Poikiloderma of Kindler 		1.000 GeneticVariation disease BEFREE Mutations in the gene encoding kindlin-1 are associated with Kindler syndrome, a recessively inherited disorder that is characterized by fragile skin. 22326752 2012
CUI: C0406557
Disease: Poikiloderma of Kindler
Poikiloderma of Kindler 		1.000 GeneticVariation disease BEFREE We now report three KS families with mutations affecting the promoter region of FERMT1. 25156791 2015
CUI: C0406557
Disease: Poikiloderma of Kindler
Poikiloderma of Kindler 		1.000 GeneticVariation disease BEFREE The diagnosis of Kindler syndrome was confirmed by DNA sequencing with compound heterozygosity for a nonsense/frameshift combination of mutations (p.Arg110X; p.Ala289GlyfsX7) in the FERMT1 gene. 24346923 2014
CUI: C0406557
Disease: Poikiloderma of Kindler
Poikiloderma of Kindler 		1.000 GeneticVariation disease BEFREE Despite the fact that loss-of-function mutations in the FERMT1 gene, encoding kindlin-1, have been shown to cause the syndrome in numerous patients, a small number of typical cases of KS in which FERMT1 mutations could not be identified has raised the possibility that the disorder may be genetically heterogeneous. 24635080 2014
CUI: C0406557
Disease: Poikiloderma of Kindler
Poikiloderma of Kindler 		1.000 GeneticVariation disease BEFREE A novel large deletion mutation of FERMT1 gene in a Chinese patient with Kindler syndrome. 26537214 2015
CUI: C0406557
Disease: Poikiloderma of Kindler
Poikiloderma of Kindler 		1.000 GeneticVariation disease BEFREE Novel KIND1 gene mutation in Kindler syndrome with severe gastrointestinal tract involvement. 17178989 2006
CUI: C0406557
Disease: Poikiloderma of Kindler
Poikiloderma of Kindler 		1.000 GeneticVariation disease BEFREE The recent finding of KIND1 mutations in Kindler syndrome facilitates early diagnosis, prophylactic measures and more precise definition of the phenotype. 16309479 2006
CUI: C0406557
Disease: Poikiloderma of Kindler
Poikiloderma of Kindler 		1.000 GeneticVariation disease BEFREE Here, we report novel and recurrent KIND1 gene mutations in nine unrelated Italian KS individuals. 16675959 2006
CUI: C0406557
Disease: Poikiloderma of Kindler
Poikiloderma of Kindler 		1.000 GeneticVariation disease UNIPROT Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome. 12789646 2003
CUI: C0406557
Disease: Poikiloderma of Kindler
Poikiloderma of Kindler 		1.000 GeneticVariation disease BEFREE Kindler syndrome (KS) is a progressive skin disorder caused by FERMT1 mutations. 21309038 2011
CUI: C0392777
Disease: Poikiloderma
Poikiloderma 		0.170 GeneticVariation disease BEFREE Mutations in the corresponding gene (KIND1) cause Kindler syndrome (KS), which is manifested by skin blistering, poikiloderma, photosensitivity and carcinogenesis. 17955455 2007
CUI: C0392777
Disease: Poikiloderma
Poikiloderma 		0.170 GeneticVariation disease BEFREE Null mutations in FERMT1 result in skin blistering from birth and early childhood progressive poikiloderma, mucosal fragility, and increased risk of cancer. 19945623 2010
CUI: C0392777
Disease: Poikiloderma
Poikiloderma 		0.170 GeneticVariation disease BEFREE These loss-of-function KIND1 mutations demonstrate the importance of kindlin-1 in maintaining epithelial integrity, although the mechanism linking this mutant protein to photosensitivity and poikiloderma remains to be determined. 14962093 2004
CUI: C0392777
Disease: Poikiloderma
Poikiloderma 		0.170 GeneticVariation disease BEFREE For example, new ideas about photosensitivity are emerging from discoveries of mutations in a novel component of the actin cytoskeleton (kindlin-1) in the rare inherited poikiloderma disorder, Kindler syndrome. 15068453 2004
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.130 GeneticVariation disease BEFREE Loss of function mutations in the FERMT1 gene which encodes Kindlin-1 leads to the development of Kindler Syndrome (KS) an autosomal recessive skin disorder characterized by skin blistering, photosensitivity, and predisposition to aggressive squamous cell carcinoma (SCC). 28501563 2017
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.110 GeneticVariation group GWASCAT Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease. 28067908 2017