HMGCL, 3-hydroxy-3-methylglutaryl-CoA lyase, 3155

N. diseases: 75; N. variants: 30
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: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 6 29 0.780 definitive 0.967 30 29 1988 2020
CUI: C1533587
Disease: Hydroxymethylglutaric aciduria
Hydroxymethylglutaric aciduria 		disease Disease or Syndrome 1 0.500 definitive 1.000 8 1988 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.300 strong 1.000 1 2000 2000
CUI: C0011853
Disease: Diabetes Mellitus, Experimental
Diabetes Mellitus, Experimental 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Experimental Model of Disease 522 0.200 None 1.000 1 1968 1968
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia 		phenotype Pathological Conditions, Signs and Symptoms Disease or Syndrome 102 8 0.110 None 1.000 1 2015 2015
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 420 42 0.110 None 1.000 1 2015 2015
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		phenotype Laboratory Procedure 234 474 0.100 None 1.000 1 1 2016 2016
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		group Nervous System Diseases Disease or Syndrome 189 17 0.100 None 0
CUI: C0580413
Disease: Prothrombin time low
Prothrombin time low 		phenotype Finding 2 0.100 None 0
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		phenotype Nervous System Diseases Finding 152 7 0.100 None 0
CUI: C0268594
Disease: Glutaric aciduria
Glutaric aciduria 		phenotype Disease or Syndrome 8 0.100 None 0
CUI: C0231835
Disease: Tachypnea
Tachypnea 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Finding 82 5 0.100 None 0
CUI: C4703632
Disease: Increased level of hippuric acid in urine
Increased level of hippuric acid in urine 		phenotype Finding 7 0.100 None 0
CUI: C0220981
Disease: Metabolic acidosis
Metabolic acidosis 		phenotype Nutritional and Metabolic Diseases Pathologic Function 85 0.100 None 0
CUI: C0162275
Disease: Ketonuria
Ketonuria 		disease Nutritional and Metabolic Diseases Disease or Syndrome 26 1 0.100 None 0
CUI: C0154694
Disease: Hemiplegia, Spastic
Hemiplegia, Spastic 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 4 0.100 None 0
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 312 0.100 None 0
CUI: C0151872
Disease: Prothrombin time increased
Prothrombin time increased 		phenotype Hemic and Lymphatic Diseases Finding 30 0.100 None 0
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		phenotype Nervous System Diseases Finding 227 27 0.100 None 0
CUI: C0694563
Disease: Excessive daytime somnolence
Excessive daytime somnolence 		phenotype Disease or Syndrome 39 0.100 None 0
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 196 76 0.100 None 0
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis 		disease Hemic and Lymphatic Diseases Disease or Syndrome 93 12 0.100 None 0
CUI: C4703617
Disease: Increased level of 3-hydroxy-3-methylglutaric acid in urine
Increased level of 3-hydroxy-3-methylglutaric acid in urine 		phenotype Finding 1 0.100 None 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		phenotype Finding 477 0.100 None 0
CUI: C3151952
Disease: 3-Methylglutaric aciduria
3-Methylglutaric aciduria 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Finding 3 1 0.100 None 0