IDH2, isocitrate dehydrogenase (NADP(+)) 2, 3418

N. diseases: 380; N. variants: 15
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: C0152459
Disease: Linear atrophy
Linear atrophy
disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 149 6 0.010 None 1.000 1 2017 2017
CUI: C0575157
Disease: Deformity of spine
Deformity of spine
disease Anatomical Abnormality 58 2 0.010 None 1.000 1 2018 2018
CUI: C4025814
Disease: Abnormality of the metaphysis
Abnormality of the metaphysis
disease Anatomical Abnormality 97 0.100 None 0
Congenital contractural arachnodactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 559 48 0.040 None 1.000 4 2013 2017
CUI: C0013366
Disease: Dyschondroplasias
Dyschondroplasias
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 24 0.300 None 1.000 2 2011 2011
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 757 47 0.010 None 1.000 1 2018 2018
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.110 None 1.000 1 2014 2014
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 234 4 0.300 None 1.000 1 2016 2016
CUI: C0025995
Disease: Micromelia
Micromelia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 104 1 0.100 None 0
CUI: C0014084
Disease: Enchondromatosis
Enchondromatosis
disease Musculoskeletal Diseases Disease or Syndrome 22 2 0.770 None 1.000 8 2011 2019
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
disease Hemic and Lymphatic Diseases Disease or Syndrome 220 37 0.060 None 0.833 6 2010 2017
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 0.450 None 1.000 6 2 2010 2016
CUI: C0024454
Disease: Maffucci Syndrome
Maffucci Syndrome
disease Musculoskeletal Diseases Disease or Syndrome 8 0.650 None 1.000 5 2011 2016
CUI: C3150909
Disease: D-2-HYDROXYGLUTARIC ACIDURIA 2
D-2-HYDROXYGLUTARIC ACIDURIA 2
disease Disease or Syndrome 2 2 0.610 None 1.000 5 2 2010 2018
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 0.040 None 1.000 4 2 2010 2013
CUI: C0025517
Disease: Metabolic Diseases
Metabolic Diseases
group Nutritional and Metabolic Diseases Disease or Syndrome 945 50 0.030 None 1.000 3 2010 2019
CUI: C0860564
Disease: Retinoic acid syndrome
Retinoic acid syndrome
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 29 3 0.030 None 1.000 3 2017 2018
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 1215 339 0.020 None 1.000 2 1 2016 2018
CUI: C0015695
Disease: Fatty Liver
Fatty Liver
disease Digestive System Diseases Disease or Syndrome 875 35 0.020 None 1.000 2 2017 2019
CUI: C0018939
Disease: Hematological Disease
Hematological Disease
group Hemic and Lymphatic Diseases Disease or Syndrome 255 16 0.020 None 1.000 2 2010 2019
CUI: C0268095
Disease: Keshan disease
Keshan disease
disease Infections; Cardiovascular Diseases Disease or Syndrome 17 1 0.020 None 1.000 2 2018 2019
CUI: C0268306
Disease: Unconjugated hyperbilirubinemia
Unconjugated hyperbilirubinemia
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 23 4 0.020 None 1.000 2 2017 2018
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease
disease Digestive System Diseases Disease or Syndrome 1058 222 0.020 None 1.000 2 2017 2018
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 615 42 0.310 None 1.000 2 2016 2017
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
disease Digestive System Diseases Disease or Syndrome 1143 75 0.020 None 1.000 2 2017 2019