PDX1, pancreatic and duodenal homeobox 1, 3651

N. diseases: 185; N. variants: 22
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Type 2 diabetes mellitus in nonobese
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 1 0.010 None 1.000 1 1997 1997
CUI: C3891828
Disease: PANCREATIC AGENESIS 1
PANCREATIC AGENESIS 1
disease Digestive System Diseases Disease or Syndrome 1 5 0.400 None 1.000 1 5 1988 1988
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE IV (disorder)
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2 6 0.830 None 1.000 6 6 1998 2018
CUI: C1850096
Disease: Pancreatic Agenesis, Congenital
Pancreatic Agenesis, Congenital
disease Digestive System Diseases Disease or Syndrome 2 0.500 None 1.000 1 1997 1997
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 8, WITH EXOCRINE DYSFUNCTION
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2 1 0.010 None < 0.001 1 2019 2019
Non-insulin-dependent diabetes mellitus with unspecified complications
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 4 0.200 None 1.000 2 1998 2003
CUI: C0271633
Disease: Disorder of endocrine pancreas
Disorder of endocrine pancreas
group Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Endocrine System Diseases Disease or Syndrome 6 0.010 None 1.000 1 2019 2019
CUI: C1969875
Disease: Beta-cell dysfunction
Beta-cell dysfunction
phenotype Finding 6 0.100 None 0
CUI: C1856904
Disease: Reduced pancreatic beta cells
Reduced pancreatic beta cells
phenotype Finding 7 0.100 None 0
CUI: C0017155
Disease: Gastritis, Hypertrophic
Gastritis, Hypertrophic
disease Digestive System Diseases Disease or Syndrome 8 0.020 None 1.000 2 2012 2016
Diabetes mellitus autosomal dominant type II (disorder)
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 8 139 0.010 None 1.000 1 1999 1999
CUI: C1855645
Disease: Keratoconus posticus circumscriptus
Keratoconus posticus circumscriptus
disease Eye Diseases Disease or Syndrome 8 0.010 None 1.000 1 2018 2018
T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITH OR WITHOUT CARDIAC MALFORMATIONS
disease Disease or Syndrome 8 1 0.010 None < 0.001 1 2016 2016
CUI: C1969879
Disease: Limb joint contracture
Limb joint contracture
phenotype Finding 10 1 0.100 None 0
Neonatal insulin-dependent diabetes mellitus
phenotype Finding 10 6 0.100 None 0
CUI: C1335168
Disease: Ovarian mucinous tumor
Ovarian mucinous tumor
disease Neoplastic Process 11 1 0.010 None < 0.001 1 2008 2008
CUI: C0027773
Disease: Nesidioblastosis
Nesidioblastosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 12 0.020 None 1.000 2 1997 2008
CUI: C4025276
Disease: Congenital lactic acidosis
Congenital lactic acidosis
disease Nutritional and Metabolic Diseases Congenital Abnormality 12 5 0.010 None 1.000 1 1997 1997
Contractures of the joints of the lower limbs
phenotype Finding 12 3 0.100 None 0
CUI: C0586358
Disease: Biliary Intraepithelial Neoplasia
Biliary Intraepithelial Neoplasia
disease Digestive System Diseases Disease or Syndrome 14 0.010 None 1.000 1 2012 2012
CUI: C4073162
Disease: Elevated hemoglobin A1c
Elevated hemoglobin A1c
phenotype Finding 14 0.100 None 0
CUI: C4280765
Disease: Abnormal C-peptide level
Abnormal C-peptide level
phenotype Finding 14 0.100 None 0
CUI: C1847425
Disease: Abnormal oral glucose tolerance
Abnormal oral glucose tolerance
phenotype Finding 15 0.100 None 0
Pyruvate Dehydrogenase Complex Deficiency Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 18 4 0.010 None 1.000 1 2003 2003
CUI: C0149955
Disease: Annular pancreas
Annular pancreas
disease Digestive System Diseases Congenital Abnormality 19 1 0.010 None 1.000 1 2017 2017