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.
CUI: C0003635
Disease: Apraxias
Apraxias 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 71 9 0.100 None 0
CUI: C1847425
Disease: Abnormal oral glucose tolerance
Abnormal oral glucose tolerance 		phenotype Finding 15 0.100 None 0
CUI: C4551485
Disease: Clinodactyly
Clinodactyly 		disease Congenital Abnormality 148 18 0.100 None 0
CUI: C1856904
Disease: Reduced pancreatic beta cells
Reduced pancreatic beta cells 		phenotype Finding 7 0.100 None 0
CUI: C1859523
Disease: Contractures of the joints of the lower limbs
Contractures of the joints of the lower limbs 		phenotype Finding 12 3 0.100 None 0
CUI: C0497406
Disease: Overweight
Overweight 		phenotype Pathological Conditions, Signs and Symptoms Finding 27 3 0.100 None 0
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 406 58 0.100 None 0
CUI: C1262477
Disease: Weight decreased
Weight decreased 		phenotype Pathological Conditions, Signs and Symptoms Finding 271 3 0.100 None 0
CUI: C1857949
Disease: Prominent metopic ridge
Prominent metopic ridge 		phenotype Finding 39 2 0.100 None 0
CUI: C0017979
Disease: Glycosuria
Glycosuria 		phenotype Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 53 7 0.100 None 0
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 842 10 0.100 None 0
CUI: C1962966
Disease: Retinopathy, CTCAE
Retinopathy, CTCAE 		phenotype Finding 108 0.100 None 0
CUI: C1263857
Disease: Peripheral axonal neuropathy
Peripheral axonal neuropathy 		disease Nervous System Diseases Disease or Syndrome 94 12 0.100 None 0
CUI: C4280765
Disease: Abnormal C-peptide level
Abnormal C-peptide level 		phenotype Finding 14 0.100 None 0
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
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
CUI: C1282951
Disease: Type 2 diabetes mellitus in nonobese
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: C1850096
Disease: Pancreatic Agenesis, Congenital
Pancreatic Agenesis, Congenital 		disease Digestive System Diseases Disease or Syndrome 2 0.500 None 1.000 1 1997 1997
CUI: C0342277
Disease: Diabetes mellitus autosomal dominant type II (disorder)
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: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Congenital Abnormality 226 26 0.010 None 1.000 1 2000 2000
CUI: C0342257
Disease: Complications of Diabetes Mellitus
Complications of Diabetes Mellitus 		group Endocrine System Diseases Disease or Syndrome 240 35 0.010 None 1.000 1 2001 2001
CUI: C0267941
Disease: Pancreatitis, Acute Necrotizing
Pancreatitis, Acute Necrotizing 		disease Digestive System Diseases Disease or Syndrome 62 1 0.200 None 1.000 1 2002 2002
CUI: C1299614
Disease: Non-insulin-dependent diabetes mellitus with unspecified complications
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: C0034345
Disease: Pyruvate Dehydrogenase Complex Deficiency Disease
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: C0017152
Disease: Gastritis
Gastritis 		disease Digestive System Diseases Disease or Syndrome 292 21 0.010 None 1.000 1 2004 2004