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
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.700 Biomarker disease BEFREE The PC-1 gene has been associated with dyslipidemia, polycystic ovarian disease and T2DM in different regions of the world. 31250990 2019
CUI: C0028754
Disease: Obesity
Obesity 		0.700 GeneticVariation disease BEFREE Our study pointed out the role of MC4R rs17782313 and ENPP1 rs1044498 genotypes in obesity determinisms in mothers and their newborns in correlation with BMI, MUAC, TST and bioimpedance parameters. 31350533 2019
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.700 GeneticVariation disease BEFREE Association and in silico studies of ENPP1 gene variants with type 2 diabetes mellitus in a Northern Iranian population. 29958952 2018
CUI: C1859727
Disease: Arterial calcification of infancy
Arterial calcification of infancy 		0.700 GeneticVariation disease BEFREE Generalized arterial calcification of infancy with a novel ENPP1 mutation: a case report. 29976176 2018
CUI: C1859727
Disease: Arterial calcification of infancy
Arterial calcification of infancy 		0.700 Biomarker disease BEFREE Bisphosphonate treatment has been described to improve survival in ENPP1-positive GACI patients, but few studies have described bisphosphonate treatment in ABCC6-positive patients. 30206659 2018
CUI: C1859727
Disease: Arterial calcification of infancy
Arterial calcification of infancy 		0.700 Biomarker disease BEFREE ENPP1 enzyme replacement therapy improves blood pressure and cardiovascular function in a mouse model of generalized arterial calcification of infancy. 30158213 2018
CUI: C1859727
Disease: Arterial calcification of infancy
Arterial calcification of infancy 		0.700 Biomarker disease BEFREE ENPP1-Fc prevents neointima formation in generalized arterial calcification of infancy through the generation of AMP. 30369595 2018
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.700 GeneticVariation disease BEFREE In this study, association of K121Q (rs1044498) polymorphism of the ENPP1 gene with T2DM and bone disorders is evaluated. 28942038 2017
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.700 GeneticVariation disease BEFREE The association of the two polymorphisms of ENPP1 (rs7754586 and rs55725924) with T2D and diabetes-related quantitative traits was analyzed in Chinese samples containing 929 T2D patients and 1044 healthy individuals. 28951309 2017
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.700 GeneticVariation disease BEFREE We investigated the association of ENPP1 121Q variant with coronary artery disease (CAD) in patients with and without T2DM in South Indian population. 28497367 2017
CUI: C0028754
Disease: Obesity
Obesity 		0.700 AlteredExpression disease BEFREE We found that: (1) Obese GDM patients have higher AT ENPP1 expression than obese non-GDM patients, or controls (P = 0.01-ANOVA). 28080219 2017
CUI: C1859727
Disease: Arterial calcification of infancy
Arterial calcification of infancy 		0.700 Biomarker disease MGD Ectopic calcification in pseudoxanthoma elasticum responds to inhibition of tissue-nonspecific alkaline phosphatase. 28592560 2017
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.700 GeneticVariation disease BEFREE We conducted an exploratory analysis by testing whether common genetic variability at IRS1, ENPP1 and TRIB3 loci is associated with cardiovascular risk traits and metabolic phenotypes in T2DM. 26868433 2016