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

N. diseases: 83; N. variants: 5
Source: CURATED ×
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: C3150909
Disease: D-2-HYDROXYGLUTARIC ACIDURIA 2
D-2-HYDROXYGLUTARIC ACIDURIA 2 		disease Disease or Syndrome 1 2 0.610 None 1.000 3 2 2010 2018
CUI: C2750850
Disease: GLIOMA SUSCEPTIBILITY 1
GLIOMA SUSCEPTIBILITY 1 		phenotype Finding 6 14 0.300 None 1.000 2 2 2009 2015
CUI: C3152055
Disease: D-2-HYDROXYGLUTARIC ACIDURIA 1
D-2-HYDROXYGLUTARIC ACIDURIA 1 		disease Disease or Syndrome 2 10 0.320 None 1.000 1 2010 2011
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		disease Cardiovascular Diseases Disease or Syndrome 57 470 0.300 None 1.000 1 2016 2016
CUI: C0242698
Disease: Ventricular Dysfunction, Left
Ventricular Dysfunction, Left 		phenotype Cardiovascular Diseases Pathologic Function 30 0.300 None 1.000 1 2016 2016
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
Hypertrophic obstructive cardiomyopathy 		disease Cardiovascular Diseases Disease or Syndrome 25 0.300 None 1.000 1 2016 2016
CUI: C0013366
Disease: Dyschondroplasias
Dyschondroplasias 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 19 0.300 None 1.000 2 2011 2011
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 156 0.300 None 1.000 1 2016 2016
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 4 8 0.450 None 1.000 1 2010 2016
CUI: C0005426
Disease: Biliary Tract Neoplasm
Biliary Tract Neoplasm 		disease Digestive System Diseases; Neoplasms Neoplastic Process 6 3 0.300 None 0
CUI: C0020295
Disease: Hydronephrosis
Hydronephrosis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 5 17 0.300 None 1.000 1 2016 2016
CUI: C0035078
Disease: Kidney Failure
Kidney Failure 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 22 0.300 None 1.000 1 2016 2016
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 17 10 0.310 None 1.000 1 2016 2017
CUI: C0020981
Disease: Angioimmunoblastic Lymphadenopathy
Angioimmunoblastic Lymphadenopathy 		disease Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 4 0.400 None 1.000 1 2012 2019
CUI: C0014084
Disease: Enchondromatosis
Enchondromatosis 		disease Musculoskeletal Diseases Disease or Syndrome 4 1 0.770 None 1.000 2 2011 2019
CUI: C0024454
Disease: Maffucci Syndrome
Maffucci Syndrome 		disease Musculoskeletal Diseases Disease or Syndrome 3 0.650 None 1.000 2 2011 2016
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		disease Musculoskeletal Diseases Disease or Syndrome 93 76 0.300 None 1.000 1 2009 2009
CUI: C0086743
Disease: Osteoarthrosis Deformans
Osteoarthrosis Deformans 		disease Musculoskeletal Diseases Disease or Syndrome 93 0.300 None 1.000 1 2009 2009
CUI: C0028945
Disease: oligodendroglioma
oligodendroglioma 		disease Neoplasms Neoplastic Process 8 0.600 None 1.000 8 2009 2019
CUI: C0334590
Disease: Anaplastic Oligodendroglioma
Anaplastic Oligodendroglioma 		disease Neoplasms Neoplastic Process 8 1 0.580 None 0.933 8 2009 2019
CUI: C0280793
Disease: Mixed Oligodendroglioma-Astrocytoma
Mixed Oligodendroglioma-Astrocytoma 		disease Neoplasms Neoplastic Process 7 0.510 None 1.000 7 2009 2015
CUI: C0334579
Disease: Anaplastic astrocytoma
Anaplastic astrocytoma 		disease Neoplasms Neoplastic Process 27 2 0.400 None 1.000 7 2009 2019
CUI: C0334580
Disease: Protoplasmic astrocytoma
Protoplasmic astrocytoma 		disease Neoplasms Neoplastic Process 26 0.300 None 1.000 6 2009 2014
CUI: C0334581
Disease: Gemistocytic astrocytoma
Gemistocytic astrocytoma 		disease Neoplasms Neoplastic Process 26 0.310 None 1.000 6 2009 2014
CUI: C0334582
Disease: Fibrillary Astrocytoma
Fibrillary Astrocytoma 		disease Neoplasms Neoplastic Process 26 0.320 None 1.000 6 2009 2019