Disease: Meleda Disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs772388665
rs772388665
Entrez Id: 57152
Gene Symbol: SLURP1
SLURP1
CUI: C0025221
Disease:
Meleda Disease 		0.700 GeneticVariation UNIPROT Heterogeneity in the properties of mutant secreted lymphocyte antigen 6/urokinase receptor-related protein 1 (SLURP1) in Mal de Meleda. 25919322 2015
dbSNP: rs772388665
rs772388665
Entrez Id: 57152
Gene Symbol: SLURP1
SLURP1
CUI: C0025221
Disease:
Meleda Disease 		0.700 GeneticVariation UNIPROT Palmoplantar keratoderma of the Gamborg-Nielsen type is caused by mutations in the SLURP1 gene and represents a variant of Mal de Meleda. 24604124 2014
dbSNP: rs772388665
rs772388665
Entrez Id: 57152
Gene Symbol: SLURP1
SLURP1
CUI: C0025221
Disease:
Meleda Disease 		0.700 GeneticVariation UNIPROT A novel homozygous missense mutation in SLURP1 causing Mal de Meleda with an atypical phenotype. 21690549 2011
dbSNP: rs772388665
rs772388665
Entrez Id: 57152
Gene Symbol: SLURP1
SLURP1
CUI: C0025221
Disease:
Meleda Disease 		0.700 GeneticVariation UNIPROT Compound heterozygosity for ARS component B mutations in a Dutch patient with mal de Meleda. 19120323 2009
dbSNP: rs772388665
rs772388665
Entrez Id: 57152
Gene Symbol: SLURP1
SLURP1
CUI: C0025221
Disease:
Meleda Disease 		0.700 GeneticVariation UNIPROT SLURP1 is a late marker of epidermal differentiation and is absent in Mal de Meleda. 17008884 2007
dbSNP: rs772388665
rs772388665
Entrez Id: 57152
Gene Symbol: SLURP1
SLURP1
CUI: C0025221
Disease:
Meleda Disease 		0.700 GeneticVariation UNIPROT Heterozygous manifestations in female carriers of Mal de Meleda. 14756676 2004
dbSNP: rs772388665
rs772388665
Entrez Id: 57152
Gene Symbol: SLURP1
SLURP1
CUI: C0025221
Disease:
Meleda Disease 		0.700 GeneticVariation UNIPROT A novel mutation in the ARS (component B) gene encoding SLURP-1 in a family with Mal de Meleda. 12950349 2003
dbSNP: rs772388665
rs772388665
Entrez Id: 57152
Gene Symbol: SLURP1
SLURP1
CUI: C0025221
Disease:
Meleda Disease 		0.700 GeneticVariation UNIPROT Mal de Meleda (MDM) caused by mutations in the gene for SLURP-1 in patients from Germany, Turkey, Palestine, and the United Arab Emirates. 12483299 2003
dbSNP: rs772388665
rs772388665
Entrez Id: 57152
Gene Symbol: SLURP1
SLURP1
CUI: C0025221
Disease:
Meleda Disease 		0.700 GeneticVariation UNIPROT Mutations in the gene encoding SLURP-1 in Mal de Meleda. 11285253 2001