|
Cole disease
|
0.720 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Cole disease
|
0.720 |
GeneticVariation
|
disease |
BEFREE |
Cole Disease Results from Mutations in ENPP1.
|
24075184 |
2013 |
|
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 |
|
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 |
|
Cole disease
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Cole disease
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
Cole Disease Results from Mutations in ENPP1.
|
24075184 |
2013 |
|
Cole disease
|
0.720 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Cole Disease Results from Mutations in ENPP1.
|
24075184 |
2013 |
|
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 |
|
Cole disease
|
0.720 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Cole disease
|
0.720 |
GermlineCausalMutation
|
disease |
ORPHANET |
Cole Disease Results from Mutations in ENPP1.
|
24075184 |
2013 |
|
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 |
|
Cole disease
|
0.720 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Cole disease: guttate hypopigmentation and punctate palmoplantar keratoderma.
|
19380683 |
2009 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
For the overall population, there was a significant association between ENPP1 gene polymorphisms and T2D when comparing the Q allele versus K allele (OR = 1.29, 95% CI 1.16-1.44, p = 0.000).
|
25109753 |
2014 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We conclude that the interaction between the K121Q polymorphism of the PC-1 gene and birth length affects insulin sensitivity and increases susceptibility to type 2 diabetes and hypertension in adulthood.
|
15126519 |
2004 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We therefore conducted a new meta-analysis that includes novel unpublished data from the ENPP1 Consortium and recent negative findings from large association studies to address the contribution of K121Q to type 2 diabetes.
|
18071025 |
2008 |
|
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 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.700 |
Biomarker
|
disease |
BEFREE |
We found that highly-interconnected T2D disease network "hub" genes most highly associated to T2D genetic risks to be PI3KR1, ESR1, and ENPP1.
|
23281828 |
2012 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
To evaluate the association between the K121Q polymorphism of the ENPP1 gene and IHD in white patients with type 2 diabetes mellitus (DM).
|
20428609 |
2010 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Under an additive genetic model, the C allele of ADRB3-rs4994, the C allele of ENPP1-rs1044498, and the A allele of PPARGC1A-rs8192678 increase the risk of type 2 diabetes in the Chinese Han population.
|
22391941 |
2012 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.700 |
Biomarker
|
disease |
BEFREE |
The gene encoding ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) is a candidate susceptibility gene for obesity and type 2 diabetes.
|
21198320 |
2011 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Although there was no evidence of an association between the ENPP1 K121Q variant and the general phenotype of T2D, we did find an association with adult obesity and T2D.
|
19046915 |
2009 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Membrane glycoprotein PC-1 (also termed ENPP1) is a direct insulin receptor inhibitor, and certain polymorphisms of the ENPP1/PC-1 gene have been associated with insulin resistance, type 2 diabetes, obesity, and diabetic complications.
|
19656007 |
2009 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.700 |
Biomarker
|
disease |
BEFREE |
We report the genetic variants in five candidate genes: TCF7L2, HHEX, ENPP1, IDE and FTO, are significantly associated (after Bonferroni correction, p<5.5E-04) with T2D susceptibility in combined population.
|
23527042 |
2013 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A recent meta-analysis demonstrated a nominal association of the ectonucleotide pyrophosphatase phosphodiesterase 1 (ENPP1) K-->Q missense single nucleotide polymorphism (SNP) at position 121 with type 2 diabetes.
|
18426862 |
2008 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Weaker associations were detected between the SNPs rs1541276 in the MC5R, rs1926065 in the MC3R genes and obesity (P = 0.04 and P = 0.03, respectively), and between SNPs rs2236700 in the MC5R, rs2118404 in the POMC, rs943003 in the ENPP1 genes and type 2 diabetes (P = 0.03, P = 0.02 and P = 0.02, respectively); these associations did not, however, remain significant after correction for multiple testing.
|
18551113 |
2008 |