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: 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: rs1555573633
rs1555573633
Entrez Id: 3868
Gene Symbol: KRT16
KRT16
CUI: C4552049
Disease:
PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 1
GCC 0.700 CausalMutation CLINVAR
dbSNP: rs28928894
rs28928894
Entrez Id: 3868
Gene Symbol: KRT16
KRT16
CUI: C1706595
Disease:
Pachyonychia Congenita, Jadassohn Lewandowsky Type
0.800 GeneticVariation UNIPROT Cloning of multiple keratin 16 genes facilitates prenatal diagnosis of pachyonychia congenita type 1. 10521820 1999
dbSNP: rs28928894
rs28928894
Entrez Id: 3868
Gene Symbol: KRT16
KRT16
CUI: C1706595
Disease:
Pachyonychia Congenita, Jadassohn Lewandowsky Type
0.800 GeneticVariation UNIPROT Two novel de novo mutations of KRT6A and KRT16 genes in two Chinese pachyonychia congenita pedigrees with fissured tongue or diffuse plantar keratoderma. 22668561 2013