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.
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1 8 0.700 None 1.000 3 8 1997 2015
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE IV (disorder)
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2 6 0.010 None 1.000 1 2002 2002
Pyruvate Dehydrogenase E1 Alpha Deficiency
disease Nutritional and Metabolic Diseases Disease or Syndrome 3 43 0.100 None 0 1
CUI: C1833431
Disease: Subependymal cysts
Subependymal cysts
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 5 0.100 None 0
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: 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 0.010 None 1.000 1 2008 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 1 2015 2015
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 0.040 None 1.000 4 2006 2016
CUI: C0556280
Disease: Gross motor impairment
Gross motor impairment
phenotype Finding 22 2 0.100 None 0
CUI: C1867864
Disease: Poor fine motor coordination
Poor fine motor coordination
phenotype Finding 31 3 0.100 None 0
CUI: C0268630
Disease: Hyper-beta-alaninemia
Hyper-beta-alaninemia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Disease or Syndrome 33 0.100 None 0
CUI: C4237343
Disease: Overweight or obesity
Overweight or obesity
phenotype Disease or Syndrome 35 17 0.010 None 1.000 1 2013 2013
Decreased activity of the pyruvate dehydrogenase complex
phenotype Finding 35 3 0.100 None 0
CUI: C0431368
Disease: Partial agenesis of corpus callosum
Partial agenesis of corpus callosum
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 38 1 0.100 None 0
CUI: C3149841
Disease: POLYCYSTIC KIDNEY DISEASE 1
POLYCYSTIC KIDNEY DISEASE 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 39 134 0.010 None 1.000 1 1992 1992
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 42 33 0.010 None 1.000 1 2003 2003
CUI: C0497202
Disease: Abnormal ocular motility
Abnormal ocular motility
phenotype Finding 45 6 0.100 None 0
CUI: C1849488
Disease: Increased serum pyruvate
Increased serum pyruvate
phenotype Finding 45 1 0.100 None 0
CUI: C0265535
Disease: Trigonocephaly
Trigonocephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 52 7 0.100 None 0
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 62 27 0.010 None 1.000 1 2005 2005
CUI: C0887833
Disease: Carcinoma, Pancreatic Ductal
Carcinoma, Pancreatic Ductal
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 82 0.010 None 1.000 1 2007 2007
CUI: C0038826
Disease: Superinfection
Superinfection
group Infections Disease or Syndrome 85 0.010 None 1.000 1 2017 2017
CUI: C0220981
Disease: Metabolic acidosis
Metabolic acidosis
phenotype Nutritional and Metabolic Diseases Pathologic Function 85 0.100 None 0
CUI: C0426970
Disease: Spastic Quadriplegia
Spastic Quadriplegia
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 86 7 0.100 None 0