L2HGDH, L-2-hydroxyglutarate dehydrogenase, 79944

N. diseases: 62; N. variants: 18
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: C1855995
Disease: L-2-HYDROXYGLUTARIC ACIDURIA
L-2-HYDROXYGLUTARIC ACIDURIA 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1 16 1.000 None 1.000 20 15 2004 2018
CUI: C3888081
Disease: L-2-hydroxyglutaric acidemia
L-2-hydroxyglutaric acidemia 		disease Disease or Syndrome 1 0.500 None 1.000 2 2010 2015
CUI: C1856001
Disease: Severe demyelination of the white matter
Severe demyelination of the white matter 		phenotype Finding 1 0.100 None 0
CUI: C0270786
Disease: Binswanger Disease
Binswanger Disease 		disease Nervous System Diseases; Mental Disorders; Cardiovascular Diseases Disease or Syndrome 4 0.010 None 1.000 1 2008 2008
CUI: C3152055
Disease: D-2-HYDROXYGLUTARIC ACIDURIA 1
D-2-HYDROXYGLUTARIC ACIDURIA 1 		disease Disease or Syndrome 4 15 0.010 None 1.000 1 1 2004 2004
CUI: C1833429
Disease: D-2-hydroxyglutaric aciduria
D-2-hydroxyglutaric aciduria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 5 6 0.010 None 1.000 1 2009 2009
CUI: C2746066
Disease: Combined D-2- and L-2-hydroxyglutaric aciduria
Combined D-2- and L-2-hydroxyglutaric aciduria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 6 14 0.700 strong 1.000 13 1 2004 2018
CUI: C0265541
Disease: Cranioschisis
Cranioschisis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 12 0.300 None 1.000 1 2004 2004
CUI: C4021761
Disease: Morphological abnormality of the pyramidal tract
Morphological abnormality of the pyramidal tract 		disease Anatomical Abnormality 18 0.100 None 0
CUI: C0431370
Disease: Atrophy of corpus callosum
Atrophy of corpus callosum 		disease Nervous System Diseases Disease or Syndrome 21 2 0.100 None 0
CUI: C0241816
Disease: Global brain atrophy
Global brain atrophy 		phenotype Pathologic Function 41 6 0.100 None 0
CUI: C1846149
Disease: Intellectual disability, progressive
Intellectual disability, progressive 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Finding 45 1 0.100 None 0
CUI: C0575059
Disease: Spastic tetraparesis
Spastic tetraparesis 		disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 50 5 0.100 None 0
CUI: C1843921
Disease: Postural instability
Postural instability 		phenotype Nervous System Diseases Finding 60 5 0.100 None 0 1
CUI: C0231687
Disease: Spastic gait
Spastic gait 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 62 9 0.100 None 0 1
CUI: C0973461
Disease: Dysphasia
Dysphasia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 63 4 0.100 None 0
CUI: C0027766
Disease: Nervous System Neoplasms
Nervous System Neoplasms 		group Neoplasms; Nervous System Diseases Neoplastic Process 68 1 0.100 None 0
CUI: C0236018
Disease: Aura
Aura 		phenotype Nervous System Diseases Finding 83 0.300 None 1.000 1 2004 2004
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy 		disease Nervous System Diseases Disease or Syndrome 83 0.300 None 1.000 1 2004 2004
CUI: C0497552
Disease: Congenital neurologic anomalies
Congenital neurologic anomalies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 84 4 0.300 None 1.000 1 2004 2004
CUI: C0750937
Disease: Ataxia, Appendicular
Ataxia, Appendicular 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 86 5 0.100 None 0 1
CUI: C0086237
Disease: Epilepsy, Cryptogenic
Epilepsy, Cryptogenic 		disease Nervous System Diseases Disease or Syndrome 88 4 0.300 None 1.000 1 2004 2004
CUI: C0017639
Disease: Gliosis
Gliosis 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 102 3 0.100 None 0
CUI: C0234133
Disease: Extrapyramidal sign
Extrapyramidal sign 		phenotype Sign or Symptom 116 7 0.110 None 1.000 1 2008 2008
CUI: C3279222
Disease: Aplasia/Hypoplasia of the cerebellum
Aplasia/Hypoplasia of the cerebellum 		phenotype Finding 116 5 0.100 None 0