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: rs1555241857
rs1555241857 		0.925 0.120 13 27924351 missense variant A/C snv
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: rs1555241857
rs1555241857 		0.925 0.120 13 27924351 missense variant A/C snv
CUI: C3891828
Disease: PANCREATIC AGENESIS 1
PANCREATIC AGENESIS 1 		Digestive System Diseases 0.700 0
dbSNP: rs193922356
rs193922356 		1.000 0.080 13 27924420 missense variant A/C snv
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: rs387906777
rs387906777 		0.851 0.120 13 27924382 missense variant A/G snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 2 2003 2010
dbSNP: rs387906777
rs387906777 		0.851 0.120 13 27924382 missense variant A/G snv
CUI: C0267963
Disease: Exocrine pancreatic insufficiency
Exocrine pancreatic insufficiency 		Digestive System Diseases 0.010 < 0.001 1 2010 2010
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: rs387906777
rs387906777 		0.851 0.120 13 27924382 missense variant A/G snv
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: rs387906777
rs387906777 		0.851 0.120 13 27924382 missense variant A/G snv
CUI: C3891828
Disease: PANCREATIC AGENESIS 1
PANCREATIC AGENESIS 1 		Digestive 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: rs193929377
rs193929377 		0.882 0.120 13 27920321 frameshift variant C/- delins
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs193929377
rs193929377 		0.882 0.120 13 27920321 frameshift variant C/- delins
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: rs193929377
rs193929377 		0.882 0.120 13 27920321 frameshift variant C/- delins
CUI: C3891828
Disease: PANCREATIC AGENESIS 1
PANCREATIC AGENESIS 1 		Digestive System Diseases 0.700 0
dbSNP: rs193922355
rs193922355 		1.000 0.080 13 27924291 missense variant C/A;G snv 8.1E-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: rs192902098
rs192902098 		1.000 0.040 13 27920235 missense variant C/A;G;T snv 2.6E-03; 3.4E-04; 5.6E-05
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs192902098
rs192902098 		1.000 0.040 13 27920235 missense variant C/A;G;T snv 2.6E-03; 3.4E-04; 5.6E-05
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes 		Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2005 2005
dbSNP: rs192902098
rs192902098 		1.000 0.040 13 27920235 missense variant C/A;G;T snv 2.6E-03; 3.4E-04; 5.6E-05
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1375604780
rs1375604780 		1.000 0.080 13 27920433 missense variant C/A;T snv 5.3E-06; 5.3E-06
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2014 2014
dbSNP: rs199644078
rs199644078 		1.000 0.080 13 27924565 missense variant C/A;T snv 6.0E-03; 1.8E-05
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 2001 2001
dbSNP: rs146021107
rs146021107 		13 27920030 5 prime UTR variant G/- delins 0.22
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs9581943
rs9581943 		1.000 0.120 13 27919860 upstream gene variant G/A snv 0.31
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.700 1.000 3 2014 2018
dbSNP: rs137852786
rs137852786 		1.000 0.080 13 27924439 missense variant G/A snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.720 1.000 2 1999 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