PDX1, pancreatic and duodenal homeobox 1, 3651

N. diseases: 185; N. variants: 22
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852783
rs137852783
Entrez Id: 3651
Gene Symbol: PDX1
PDX1
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		0.760 GeneticVariation BEFREE The T-allele of the SNP rs12255372 of TCF7L2 (OR = 2.70, 95% CI = 1.12-6.49, P = 0.027) and the A-allele of PDX-1 D76N (OR = 3.93, 95% CI = 1.60-7.68, P = 0.002) were significantly associated with an increased risk of T2DM. 26058934 2015
dbSNP: rs137852783
rs137852783
Entrez Id: 3651
Gene Symbol: PDX1
PDX1
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		0.760 GeneticVariation BEFREE So far, this is the largest association study regarding the effect of D76N IPF1 on T2D. 17592437 2007
dbSNP: rs137852783
rs137852783
Entrez Id: 3651
Gene Symbol: PDX1
PDX1
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		0.760 GeneticVariation BEFREE The D76N variant of PDX1 does not significantly alter insulin secretion or act as a high-risk susceptibility allele for late-onset type 2 diabetes as proposed previously, although we cannot exclude a minor role in increasing risk of diabetes. 15277425 2004
dbSNP: rs137852783
rs137852783
Entrez Id: 3651
Gene Symbol: PDX1
PDX1
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		0.760 GeneticVariation BEFREE We genotyped U.S. Caucasians with (n = 217) and without (n = 176) Type 2 diabetes to determine if three previously identified variants (Cys18Arg, Asp76Asn, Arg197His) in the IPF-1 gene play a role in the development of Type 2 diabetes. 11914043 2002
dbSNP: rs137852783
rs137852783
Entrez Id: 3651
Gene Symbol: PDX1
PDX1
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		0.760 GeneticVariation BEFREE The D76N variant was found in one MODY3 family (S315fsinsA of HNF1alpha) and also in two families with late-onset Type II diabetes. 11270685 2001
dbSNP: rs137852783
rs137852783
Entrez Id: 3651
Gene Symbol: PDX1
PDX1
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		0.760 GeneticVariation BEFREE In the patients with late-onset type 2 diabetes we identified a noncoding G insertion/deletion polymorphism at nucleotide -108, a silent G54G, and a rare missense D76N variant. 10720084 2000
dbSNP: rs137852783
rs137852783
Entrez Id: 3651
Gene Symbol: PDX1
PDX1
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		A 0.760 SusceptibilityMutation CLINVAR
dbSNP: rs137852786
rs137852786
Entrez Id: 3651
Gene Symbol: PDX1
PDX1
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		0.720 GeneticVariation BEFREE We genotyped U.S. Caucasians with (n = 217) and without (n = 176) Type 2 diabetes to determine if three previously identified variants (Cys18Arg, Asp76Asn, Arg197His) in the IPF-1 gene play a role in the development of Type 2 diabetes. 11914043 2002
dbSNP: rs137852786
rs137852786
Entrez Id: 3651
Gene Symbol: PDX1
PDX1
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		0.720 GeneticVariation BEFREE Three novel IPF-1 missense mutations (C18R, D76N, and R197H) were identified in patients with type 2 diabetes. 10545530 1999
dbSNP: rs137852786
rs137852786
Entrez Id: 3651
Gene Symbol: PDX1
PDX1
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		A 0.720 SusceptibilityMutation CLINVAR
dbSNP: rs137852785
rs137852785
Entrez Id: 3651
Gene Symbol: PDX1
PDX1
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		0.710 GeneticVariation BEFREE We genotyped U.S. Caucasians with (n = 217) and without (n = 176) Type 2 diabetes to determine if three previously identified variants (Cys18Arg, Asp76Asn, Arg197His) in the IPF-1 gene play a role in the development of Type 2 diabetes. 11914043 2002
dbSNP: rs137852785
rs137852785
Entrez Id: 3651
Gene Symbol: PDX1
PDX1
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		C 0.710 SusceptibilityMutation CLINVAR
dbSNP: rs9581943
rs9581943
Entrez Id: 3651
Gene Symbol: PDX1
PDX1
CUI: C0235974
Disease:
Pancreatic carcinoma 		A 0.700 GeneticVariation GWASCAT Genome-wide meta-analysis identifies five new susceptibility loci for pancreatic cancer. 29422604 2018
dbSNP: rs7981781
rs7981781
Entrez Id: 3651
Gene Symbol: PDX1
PDX1
CUI: C0428568
Disease:
Fasting blood glucose measurement 		A 0.700 GeneticVariation GWASCAT Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants. 28270201 2017
dbSNP: rs9581943
rs9581943
Entrez Id: 3651
Gene Symbol: PDX1
PDX1
CUI: C0235974
Disease:
Pancreatic carcinoma 		0.700 GeneticVariation GWASCAT Common variation at 2p13.3, 3q29, 7p13 and 17q25.1 associated with susceptibility to pancreatic cancer. 26098869 2015
dbSNP: rs9581943
rs9581943
Entrez Id: 3651
Gene Symbol: PDX1
PDX1
CUI: C0235974
Disease:
Pancreatic carcinoma 		A 0.700 GeneticVariation GWASCAT Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer. 25086665 2014
dbSNP: rs7993724
rs7993724
Entrez Id: 3651;100861550
Gene Symbol: PDX1;PLUT
PDX1;PLUT
CUI: C0392885
Disease:
High density lipoprotein measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs7993724
rs7993724
Entrez Id: 3651;100861550
Gene Symbol: PDX1;PLUT
PDX1;PLUT
CUI: C1445957
Disease:
Serum total cholesterol measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs7993724
rs7993724
Entrez Id: 3651;100861550
Gene Symbol: PDX1;PLUT
PDX1;PLUT
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs7993724
rs7993724
Entrez Id: 3651;100861550
Gene Symbol: PDX1;PLUT
PDX1;PLUT
CUI: C0428474
Disease:
Serum LDL cholesterol measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs7993724
rs7993724
Entrez Id: 3651;100861550
Gene Symbol: PDX1;PLUT
PDX1;PLUT
CUI: C0202236
Disease:
Triglycerides measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs7993724
rs7993724
Entrez Id: 3651;100861550
Gene Symbol: PDX1;PLUT
PDX1;PLUT
CUI: C0428472
Disease:
Serum HDL cholesterol measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs387906777
rs387906777
Entrez Id: 3651
Gene Symbol: PDX1
PDX1
CUI: C1833104
Disease:
DIABETES MELLITUS, PERMANENT NEONATAL 		G 0.700 CausalMutation CLINVAR A novel hypomorphic PDX1 mutation responsible for permanent neonatal diabetes with subclinical exocrine deficiency. 20009086 2010
dbSNP: rs387906777
rs387906777
Entrez Id: 3651
Gene Symbol: PDX1
PDX1
CUI: C1833104
Disease:
DIABETES MELLITUS, PERMANENT NEONATAL 		G 0.700 CausalMutation CLINVAR Agenesis of human pancreas due to decreased half-life of insulin promoter factor 1. 12970316 2003
dbSNP: rs137852783
rs137852783
Entrez Id: 3651
Gene Symbol: PDX1
PDX1
CUI: C0342276
Disease:
Maturity onset diabetes mellitus in young 		A 0.700 GeneticVariation CLINVAR