DSG1, desmoglein 1, 1828

N. diseases: 81; N. variants: 13
Disease: Keratoderma, Palmoplantar ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		0.470 Biomarker disease BEFREE Mutations in four main genes, keratin 9 (KRT9), keratin 1 (KRT1), desmoglein (DSG1), and desmoplakin (DSP), have been associated with PPK. 31192455 2019
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		0.470 GeneticVariation disease BEFREE More than 20 genes have been reported to be associated with PPKs including desmoglein 1 (DSG1) a key molecular component for epidermal adhesion and differentiation. 31443639 2019
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		0.470 GeneticVariation disease BEFREE We report seven unrelated pedigrees with dominantly inherited PPK owing to mutations in the DSG1 gene, with marked phenotypic variation. 27534273 2017
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		0.470 Biomarker disease BEFREE Loss of desmoglein 1 associated with palmoplantar keratoderma, dermatitis and multiple allergies. 25041099 2015
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		0.470 GeneticVariation disease BEFREE Widening of the intercellular spaces and disadhesion of epidermal keratinocytes may serve as a histologic clue to PPKs caused by DSG1 mutations. 20082890 2010
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		0.470 GeneticVariation disease BEFREE Pathogenic mutations in the desmoglein 1 gene (DSG1) have recently been identified in a subset of patients with the striate type of PPK. 16484817 2006
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		0.470 GeneticVariation disease BEFREE Mutations in DSG1 are not exclusively associated with striated palmoplantar keratoderma. 15897387 2005
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		0.470 Biomarker disease GENOMICS_ENGLAND
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		0.470 Biomarker disease HPO