DLD, dihydrolipoamide dehydrogenase, 1738

N. diseases: 190; N. variants: 42
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: C0238391
Disease: PRIMARY LACTIC ACIDOSIS
PRIMARY LACTIC ACIDOSIS 		disease Nutritional and Metabolic Diseases Disease or Syndrome 1 0.010 None 1.000 1 2002 2002
CUI: C1333084
Disease: Colon Neuroendocrine Tumor G1
Colon Neuroendocrine Tumor G1 		disease Neoplastic Process 1 0.010 None 1.000 1 1996 1996
CUI: C4023657
Disease: Hyperisoleucinemia
Hyperisoleucinemia 		disease Disease or Syndrome 1 0.100 None 0
CUI: C3492932
Disease: Lactic Acidosis, Congenital Infantile, Due To Lad Deficiency
Lactic Acidosis, Congenital Infantile, Due To Lad Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 2 1 0.310 None 1.000 1 1 2013 2013
CUI: C3554657
Disease: LISSENCEPHALY 5
LISSENCEPHALY 5 		disease Disease or Syndrome 2 6 0.100 None 0 1
CUI: C0268120
Disease: Adenine phosphoribosyltransferase deficiency
Adenine phosphoribosyltransferase deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 3 11 0.010 None 1.000 1 1996 1996
CUI: C0340319
Disease: Posterior myocardial infarction
Posterior myocardial infarction 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 3 0.010 None < 0.001 1 2017 2017
CUI: C4022915
Disease: Increased urine alpha-ketoglutarate concentration
Increased urine alpha-ketoglutarate concentration 		phenotype Finding 3 0.100 None 0
CUI: C0264695
Disease: Subendocardial ischemia
Subendocardial ischemia 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 4 0.010 None 1.000 1 2019 2019
CUI: C2752074
Disease: ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY
ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 4 0.010 None 1.000 1 2005 2005
CUI: C4024697
Disease: Elevated plasma branched chain amino acids
Elevated plasma branched chain amino acids 		phenotype Finding 4 0.100 None 0
CUI: C0272087
Disease: Congenital Methemoglobinemia
Congenital Methemoglobinemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 6 8 0.010 None 1.000 1 1981 1981
CUI: C0856737
Disease: Single vessel disease
Single vessel disease 		disease Cardiovascular Diseases Disease or Syndrome 6 0.010 None 1.000 1 2018 2018
CUI: C4280733
Disease: Abnormal cardiac ventricular function
Abnormal cardiac ventricular function 		phenotype Finding 6 0.100 None 0
CUI: C0268193
Disease: NADH cytochrome B5 reductase deficiency
NADH cytochrome B5 reductase deficiency 		disease Hemic and Lymphatic Diseases Disease or Syndrome 7 45 0.800 definitive 1.000 34 34 1981 2018
CUI: C2748536
Disease: Leukocyte Adhesion Deficiency, Type III
Leukocyte Adhesion Deficiency, Type III 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases Disease or Syndrome 7 6 0.010 None 1.000 1 2010 2010
CUI: C3665425
Disease: Hemoglobin M Disease
Hemoglobin M Disease 		disease Hemic and Lymphatic Diseases Disease or Syndrome 7 4 0.010 None 1.000 1 1981 1981
CUI: C0398739
Disease: Congenital disorder of glycosylation, type 2C
Congenital disorder of glycosylation, type 2C 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 9 6 0.050 None 1.000 5 1998 2001
CUI: C0399451
Disease: Subgingival plaque
Subgingival plaque 		disease Stomatognathic Diseases Disease or Syndrome 9 0.010 None 1.000 1 2015 2015
CUI: C1852540
Disease: Coronary Artery Dissection, Spontaneous
Coronary Artery Dissection, Spontaneous 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 11 0.010 None 1.000 1 2019 2019
CUI: C0025637
Disease: Methemoglobinemia
Methemoglobinemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 12 3 0.020 None 1.000 2 1981 1998
CUI: C0347959
Disease: Lactic acidemia
Lactic acidemia 		phenotype Disease or Syndrome 12 0.010 None 1.000 1 2011 2011
CUI: C1264606
Disease: Persistent infection
Persistent infection 		phenotype Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 13 0.020 None 1.000 2 1999 2001
CUI: C0009460
Disease: Communication impairment
Communication impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 13 1 0.010 None 1.000 1 2004 2004
CUI: C0272187
Disease: Congenital leukocyte adherence deficiency
Congenital leukocyte adherence deficiency 		disease Disease or Syndrome 14 12 0.100 None 1.000 11 1998 2015