PDX1, pancreatic and duodenal homeobox 1, 3651

N. diseases: 185; N. variants: 22
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs80356661
rs80356661 		0.882 0.120 13 27924341 missense variant G/T snv
CUI: C3891828
Disease: PANCREATIC AGENESIS 1
PANCREATIC AGENESIS 1 		Digestive System Diseases 0.700 0
dbSNP: rs80356661
rs80356661 		0.882 0.120 13 27924341 missense variant G/T snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs80356662
rs80356662 		0.925 0.120 13 27924381 missense variant G/A snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs80356662
rs80356662 		0.925 0.120 13 27924381 missense variant G/A snv
CUI: C3891828
Disease: PANCREATIC AGENESIS 1
PANCREATIC AGENESIS 1 		Digestive System Diseases 0.700 0
dbSNP: rs755703581
rs755703581 		0.925 0.120 13 27920295 missense variant G/A snv 2.3E-05 7.0E-06
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs755703581
rs755703581 		0.925 0.120 13 27920295 missense variant G/A snv 2.3E-05 7.0E-06
CUI: C0007785
Disease: Cerebral Infarction
Cerebral Infarction 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2008 2008
dbSNP: rs755703581
rs755703581 		0.925 0.120 13 27920295 missense variant G/A snv 2.3E-05 7.0E-06
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2008 2008
dbSNP: rs193922360
rs193922360 		1.000 0.080 13 27924622 missense variant A/G snv 7.0E-06
CUI: C1833382
Disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE IV (disorder)
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE IV (disorder) 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs137852784
rs137852784 		0.925 0.080 13 27920314 missense variant A/T snv 1.5E-05 1.4E-05
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.020 1.000 2 1999 2000
dbSNP: rs137852784
rs137852784 		0.925 0.080 13 27920314 missense variant A/T snv 1.5E-05 1.4E-05
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.020 1.000 2 1999 2000
dbSNP: rs137852784
rs137852784 		0.925 0.080 13 27920314 missense variant A/T snv 1.5E-05 1.4E-05
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs137852785
rs137852785 		0.925 0.080 13 27920190 missense variant T/C snv 1.1E-04 1.0E-04
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.030 1.000 3 2000 2019
dbSNP: rs137852785
rs137852785 		0.925 0.080 13 27920190 missense variant T/C snv 1.1E-04 1.0E-04
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.030 1.000 3 2000 2019
dbSNP: rs137852785
rs137852785 		0.925 0.080 13 27920190 missense variant T/C snv 1.1E-04 1.0E-04
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.710 1.000 1 2002 2002
dbSNP: rs137852787
rs137852787 		0.882 0.080 13 27924519 missense variant G/A snv 1.3E-03 2.0E-04
CUI: C0271650
Disease: Impaired glucose tolerance
Impaired glucose tolerance 		Nutritional and Metabolic Diseases 0.010 1.000 1 2004 2004
dbSNP: rs137852787
rs137852787 		0.882 0.080 13 27924519 missense variant G/A snv 1.3E-03 2.0E-04
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2004 2004
dbSNP: rs137852787
rs137852787 		0.882 0.080 13 27924519 missense variant G/A snv 1.3E-03 2.0E-04
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2004 2004
dbSNP: rs137852787
rs137852787 		0.882 0.080 13 27924519 missense variant G/A snv 1.3E-03 2.0E-04
CUI: C0342276
Disease: Maturity onset diabetes mellitus in young
Maturity onset diabetes mellitus in young 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2004 2004
dbSNP: rs137852787
rs137852787 		0.882 0.080 13 27924519 missense variant G/A snv 1.3E-03 2.0E-04
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 2004 2004
dbSNP: rs7993724
rs7993724 		13 27919139 upstream gene variant T/C snv 5.6E-03
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs7993724
rs7993724 		13 27919139 upstream gene variant T/C snv 5.6E-03
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs7993724
rs7993724 		13 27919139 upstream gene variant T/C snv 5.6E-03
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs7993724
rs7993724 		13 27919139 upstream gene variant T/C snv 5.6E-03
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs7993724
rs7993724 		13 27919139 upstream gene variant T/C snv 5.6E-03
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs7993724
rs7993724 		13 27919139 upstream gene variant T/C snv 5.6E-03
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012