KRT16, keratin 16, 3868

N. diseases: 97; N. variants: 14
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs58293603
rs58293603
Entrez Id: 3868
Gene Symbol: KRT16
KRT16
CUI: C1706595
Disease:
Pachyonychia Congenita, Jadassohn Lewandowsky Type
0.810 GeneticVariation BEFREE A heterozygous missense mutation (L124R) was detected in a kindred with PC-1. 10839714 2000
dbSNP: rs1337503417
rs1337503417
Entrez Id: 3868
Gene Symbol: KRT16
KRT16
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.050 GeneticVariation BEFREE The K121Q polymorphism of the ENPP1/PC-1 gene is associated with insulin resistance/atherogenic phenotypes, including earlier onset of type 2 diabetes and myocardial infarction. 16186408 2005
dbSNP: rs1337503417
rs1337503417
Entrez Id: 3868
Gene Symbol: KRT16
KRT16
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.050 GeneticVariation 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 </span>2 diabetes and hypertension in adulthood. 15126519 2004
dbSNP: rs1337503417
rs1337503417
Entrez Id: 3868
Gene Symbol: KRT16
KRT16
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.050 GeneticVariation BEFREE Overall, the results indicate that the K121Q polymorphism was not found associated with insulin resistance in type 2 diabetes in a Pakistani Punjabi population. 31250990 2019
dbSNP: rs1337503417
rs1337503417
Entrez Id: 3868
Gene Symbol: KRT16
KRT16
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.050 GeneticVariation BEFREE In conclusion, the K121Q polymorphism of the human PC-1 gene is not associated with type 2 diabetes or insulin resistance among Danish Caucasians. 10969849 2000
dbSNP: rs1337503417
rs1337503417
Entrez Id: 3868
Gene Symbol: KRT16
KRT16
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.050 GeneticVariation BEFREE In addition, a polymorphism of PC-1 (K121Q) in various ethnic populations is closely associated with insulin resistance, T2D, and cardio [corrected] and nephrovascular diseases. 18199690 2008
dbSNP: rs1337503417
rs1337503417
Entrez Id: 3868
Gene Symbol: KRT16
KRT16
CUI: C0524620
Disease:
Metabolic Syndrome X
0.040 GeneticVariation BEFREE We studied whether there is an association between the single nucleotide polymorphism c.533A>C (K121Q) in the glycoprotein PC-1 gene and features of the metabolic syndrome in case-control and intrafamily association studies in 922 subjects from Finland and Sweden. 10969847 2000
dbSNP: rs1337503417
rs1337503417
Entrez Id: 3868
Gene Symbol: KRT16
KRT16
CUI: C0524620
Disease:
Metabolic Syndrome X
0.040 GeneticVariation BEFREE The results from the present study have indicated that ENPP1/PC1 Q121 variant may increase the risk of obesity and that more well-designed studies based on a larger population will be required to further evaluate the role of ENPP1/PC1 gene K121Q polymorphism in obesity and other related metabolic syndromes. 21565692 2011
dbSNP: rs1337503417
rs1337503417
Entrez Id: 3868
Gene Symbol: KRT16
KRT16
CUI: C0524620
Disease:
Metabolic Syndrome X
0.040 GeneticVariation BEFREE This study suggests that the PC-1 gene K121Q polymorphism may modulate responses of IRS to exercise training, at least in this population. 17990211 2008
dbSNP: rs1337503417
rs1337503417
Entrez Id: 3868
Gene Symbol: KRT16
KRT16
CUI: C0524620
Disease:
Metabolic Syndrome X
0.040 GeneticVariation BEFREE To investigate the effect of the K121Q plasma cell membrane glycoprotein (PC-1) polymorphism on the components of the insulin resistance syndrome in a population-based nationwide multicenter study in Spain. 12740448 2003
dbSNP: rs1337503417
rs1337503417
Entrez Id: 3868
Gene Symbol: KRT16
KRT16
CUI: C0028754
Disease:
Obesity
0.030 GeneticVariation BEFREE The results from the present study have indicated that ENPP1/PC1 Q121 variant may increase the risk of obesity and that more well-designed studies based on a larger population will be required to further evaluate the role of ENPP1/PC1 gene K121Q polymorphism in obesity and other related metabolic syndromes. 21565692 2011
dbSNP: rs1337503417
rs1337503417
Entrez Id: 3868
Gene Symbol: KRT16
KRT16
CUI: C0028754
Disease:
Obesity
0.030 GeneticVariation BEFREE If similar results are confirmed in prospective studies, the K121Q polymorphism may help identify people at risk for obesity. 17228024 2007
dbSNP: rs1337503417
rs1337503417
Entrez Id: 3868
Gene Symbol: KRT16
KRT16
CUI: C0028754
Disease:
Obesity
0.030 GeneticVariation BEFREE The observed genotype distributions revealed a significant association of PC-1 K121Q with obesity. 17026496 2006
dbSNP: rs1337503417
rs1337503417
Entrez Id: 3868
Gene Symbol: KRT16
KRT16
CUI: C3714619
Disease:
Insulin resistance syndrome
0.020 GeneticVariation BEFREE This study suggests that the PC-1 gene K121Q polymorphism may modulate responses of IRS to exercise training, at least in this population. 17990211 2008
dbSNP: rs1337503417
rs1337503417
Entrez Id: 3868
Gene Symbol: KRT16
KRT16
CUI: C3714619
Disease:
Insulin resistance syndrome
0.020 GeneticVariation BEFREE To investigate the effect of the K121Q plasma cell membrane glycoprotein (PC-1) polymorphism on the components of the insulin resistance syndrome in a population-based nationwide multicenter study in Spain. 12740448 2003
dbSNP: rs1337503417
rs1337503417
Entrez Id: 3868
Gene Symbol: KRT16
KRT16
CUI: C0022658
Disease:
Kidney Diseases
0.010 GeneticVariation BEFREE The XbaI and K121Q polymorphisms were determined by PCR-RFLP in Danish type 1 diabetic patients with nephropathy (122 men/77 women, age 40.9+/-9.6 years, diabetes duration 27+/-8 years) and type 1 diabetic patients with persistent normoalbuminuria (118 men/74 women, age 42.7+/-10.2 years, diabetes duration 26+/-9 years). 11477169 2001
dbSNP: rs1337503417
rs1337503417
Entrez Id: 3868
Gene Symbol: KRT16
KRT16
CUI: C0027051
Disease:
Myocardial Infarction
0.010 GeneticVariation BEFREE The K121Q polymorphism of the ENPP1/PC-1 gene is associated with insulin resistance/atherogenic phenotypes, including earlier onset of type 2 diabetes and myocardial infarction. 16186408 2005
dbSNP: rs1337503417
rs1337503417
Entrez Id: 3868
Gene Symbol: KRT16
KRT16
CUI: C0011847
Disease:
Diabetes
0.010 GeneticVariation BEFREE Therefore, we investigated whether the K121Q polymorphism of the PC-1 gene association with insulin sensitivity, insulin levels, and the prevalence of diabetes and hypertension in adult life depends on size at birth in 489 subjects born in Helsinki during 1924-1933. 15126519 2004
dbSNP: rs1337503417
rs1337503417
Entrez Id: 3868
Gene Symbol: KRT16
KRT16
CUI: C0011849
Disease:
Diabetes Mellitus
0.010 GeneticVariation BEFREE Therefore, we investigated whether the K121Q polymorphism of the PC-1 gene association with insulin sensitivity, insulin levels, and the prevalence of diabetes and hypertension in adult life depends on size at birth in 489 subjects born in Helsinki during 1924-1933. 15126519 2004
dbSNP: rs1337503417
rs1337503417
Entrez Id: 3868
Gene Symbol: KRT16
KRT16
CUI: C0020538
Disease:
Hypertensive disease
0.010 GeneticVariation 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
dbSNP: rs1337503417
rs1337503417
Entrez Id: 3868
Gene Symbol: KRT16
KRT16
CUI: C0948379
Disease:
Impaired insulin secretion
0.010 GeneticVariation BEFREE In healthy normoglycemic Finnish subjects, the K121Q polymorphism of the PC-1 gene is associated with insulin resistance but not with impaired insulin secretion or dyslipidemia. 12547881 2003
dbSNP: rs1337503417
rs1337503417
Entrez Id: 3868
Gene Symbol: KRT16
KRT16
CUI: C0242339
Disease:
Dyslipidemias
0.010 GeneticVariation BEFREE In healthy normoglycemic Finnish subjects, the K121Q polymorphism of the PC-1 gene is associated with insulin resistance but not with impaired insulin secretion or dyslipidemia. 12547881 2003
dbSNP: rs1337503417
rs1337503417
Entrez Id: 3868
Gene Symbol: KRT16
KRT16
CUI: C0020557
Disease:
Hypertriglyceridemia
0.010 GeneticVariation BEFREE Interestingly, the more widely studied K121Q ENPP1/PC-1 variant was not associated with hypertriglyceridemia in any group or subgroup analysis. 19656007 2009
dbSNP: rs28928895
rs28928895
Entrez Id: 3868
Gene Symbol: KRT16
KRT16
CUI: C2931923
Disease:
Hyperkeratosis of the palms and soles and esophageal papillomas
0.010 GeneticVariation BEFREE Mutation p.Leu128Pro in the 1A domain of K16 causes pachyonychia congenita with focal palmoplantar keratoderma in a Chinese family. 24357266 2014
dbSNP: rs28928895
rs28928895
Entrez Id: 3868
Gene Symbol: KRT16
KRT16
CUI: C0265334
Disease:
Pachyonychia Congenita
0.010 GeneticVariation BEFREE Mutation p.Leu128Pro in the 1A domain of K16 causes pachyonychia congenita with focal palmoplantar keratoderma in a Chinese family. 24357266 2014