Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0022584
Disease: Keratoderma, Palmoplantar, Diffuse
Keratoderma, Palmoplantar, Diffuse
0.420 Biomarker disease BEFREE SLURP1 is the causal gene for Mal de Meleda (MDM), an autosomal recessive skin disorder characterized by diffuse palmoplantar keratoderma and transgressive keratosis. 26474319 2015
CUI: C0022584
Disease: Keratoderma, Palmoplantar, Diffuse
Keratoderma, Palmoplantar, Diffuse
0.420 Biomarker disease GENOMICS_ENGLAND Compound heterozygosity for ARS component B mutations in a Dutch patient with mal de Meleda. 19120323 2009
CUI: C0022584
Disease: Keratoderma, Palmoplantar, Diffuse
Keratoderma, Palmoplantar, Diffuse
0.420 Biomarker disease GENOMICS_ENGLAND [Meleda-type palmo-plantar keratoderma is caused by mutations in the gene coding the SLURP protein]. 15026760 2004
CUI: C0022584
Disease: Keratoderma, Palmoplantar, Diffuse
Keratoderma, Palmoplantar, Diffuse
0.420 GeneticVariation disease BEFREE Our findings indicate that the MDM type of transgressive PPK is caused by SLURP-1 mutations in patients from various origins and demonstrate allelic heterogeneity for mutations in SLURP-1. 12483299 2003
CUI: C0022584
Disease: Keratoderma, Palmoplantar, Diffuse
Keratoderma, Palmoplantar, Diffuse
0.420 Biomarker disease HPO