FERMT1, fermitin family member 1, 55612

N. diseases: 104; N. variants: 27
Disease: Atrophic condition of skin ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0151514
Disease: Atrophic condition of skin
Atrophic condition of skin 		0.130 Biomarker group BEFREE Mutations in the FERMT1 gene (also known as KIND1), encoding the focal adhesion protein kindlin-1, underlie the Kindler syndrome (KS), an autosomal recessive skin disorder with an intriguing progressive phenotype comprising skin blistering, photosensitivity, progressive poikiloderma with extensive skin atrophy, and propensity to skin cancer. 21936020 2011
CUI: C0151514
Disease: Atrophic condition of skin
Atrophic condition of skin 		0.130 Biomarker group BEFREE How and why deficiency of fermitin family homolog-1 results in skin atrophy and blistering are unclear. 19762710 2009
CUI: C0151514
Disease: Atrophic condition of skin
Atrophic condition of skin 		0.130 Biomarker group BEFREE Here, we show that deleting Kindlin-1 in mice gives rise to skin atrophy and an intestinal epithelial dysfunction with similarities to human UC. 19057668 2008
CUI: C0151514
Disease: Atrophic condition of skin
Atrophic condition of skin 		0.130 Biomarker group HPO