Disease: Cole disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3809781
Disease: Cole disease
Cole disease 		0.720 GeneticVariation disease UNIPROT We therefore conclude that germline ENPP1 cysteine-specific mutations, primarily affecting the melanocyte lineage, cause a clinical spectrum of dyschromatosis, in which the p.Cys120Arg allele represents a recessive and more severe form of Cole disease. 28964717 2018
CUI: C3809781
Disease: Cole disease
Cole disease 		0.720 GeneticVariation disease BEFREE We therefore conclude that germline ENPP1 cysteine-specific mutations, primarily affecting the melanocyte lineage, cause a clinical spectrum of dyschromatosis, in which the p.Cys120Arg allele represents a recessive and more severe form of Cole disease. 28964717 2018
CUI: C3809781
Disease: Cole disease
Cole disease 		0.720 Biomarker disease GENOMICS_ENGLAND Association of Cole disease with novel heterozygous mutations in the somatomedin-B domains of the ENPP1 gene: necessary, but not always sufficient. 26617416 2016
CUI: C3809781
Disease: Cole disease
Cole disease 		0.720 GeneticVariation disease UNIPROT Association of Cole disease with novel heterozygous mutations in the somatomedin-B domains of the ENPP1 gene: necessary, but not always sufficient. 26617416 2016
CUI: C3809781
Disease: Cole disease
Cole disease 		0.720 GeneticVariation disease BEFREE Cole Disease Results from Mutations in ENPP1. 24075184 2013
CUI: C3809781
Disease: Cole disease
Cole disease 		0.720 GeneticVariation disease UNIPROT Cole Disease Results from Mutations in ENPP1. 24075184 2013
CUI: C3809781
Disease: Cole disease
Cole disease 		0.720 Biomarker disease GENOMICS_ENGLAND Cole Disease Results from Mutations in ENPP1. 24075184 2013
CUI: C3809781
Disease: Cole disease
Cole disease 		0.720 GermlineCausalMutation disease ORPHANET Cole Disease Results from Mutations in ENPP1. 24075184 2013
CUI: C3809781
Disease: Cole disease
Cole disease 		0.720 Biomarker disease GENOMICS_ENGLAND Cole disease: guttate hypopigmentation and punctate palmoplantar keratoderma. 19380683 2009
CUI: C3809781
Disease: Cole disease
Cole disease 		0.720 Biomarker disease GENOMICS_ENGLAND
CUI: C3809781
Disease: Cole disease
Cole disease 		0.720 CausalMutation disease CLINVAR
CUI: C3809781
Disease: Cole disease
Cole disease 		0.720 Biomarker disease CTD_human