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: C4287997
Disease: WHO Grade III Glioma
WHO Grade III Glioma
disease Neoplasms Neoplastic Process 10 0.020 None 1.000 2 2012 2019
CUI: C4330050
Disease: WHO Grade II Glioma
WHO Grade II Glioma
disease Neoplastic Process 11 0.010 None 1.000 1 2018 2018
Well Differentiated Oligodendroglioma
disease Neoplasms Neoplastic Process 270 22 0.400 None 1.000 35 2 2009 2019
CUI: C0022783
Disease: Vulvar Lichen Sclerosus
Vulvar Lichen Sclerosus
disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 25 0.010 None 1.000 1 2014 2014
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 174 187 0.010 None 1.000 1 2010 2010
CUI: C0270824
Disease: Visual seizure
Visual seizure
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 209 0.300 None 1.000 1 2016 2016
CUI: C4021977
Disease: Visceral angiomatosis
Visceral angiomatosis
disease Disease or Syndrome 17 0.100 None 0
CUI: C0422855
Disease: Vertiginous seizure
Vertiginous seizure
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 102 0.300 None 1.000 1 2016 2016
CUI: C0242698
Disease: Ventricular Dysfunction, Left
Ventricular Dysfunction, Left
phenotype Cardiovascular Diseases Pathologic Function 88 0.300 None 1.000 1 2016 2016
CUI: C0042487
Disease: Venous Thrombosis
Venous Thrombosis
phenotype Cardiovascular Diseases Pathologic Function 117 218 0.100 None 0
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism
phenotype Cardiovascular Diseases Disease or Syndrome 378 408 0.010 None 1.000 1 2019 2019
CUI: C1402315
Disease: Vascular lesions
Vascular lesions
disease Disease or Syndrome 111 9 0.010 None 1.000 1 2 2011 2011
CUI: C2145472
Disease: Urothelial Carcinoma
Urothelial Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 449 10 0.010 None 1.000 1 2017 2017
Undifferentiated carcinoma of nasopharynx
disease Neoplastic Process 23 0.010 None 1.000 1 2017 2017
CUI: C0205698
Disease: Undifferentiated carcinoma
Undifferentiated carcinoma
disease Neoplasms Neoplastic Process 283 8 0.030 None 1.000 3 1 2017 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: C0001618
Disease: Tumors of Adrenal Cortex
Tumors of Adrenal Cortex
group Neoplasms; Endocrine System Diseases Neoplastic Process 74 5 0.100 None 0
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
phenotype Pathological Conditions, Signs and Symptoms Neoplastic Process 3865 72 0.010 None 1.000 1 2009 2009
CUI: C0598935
Disease: Tumor Initiation
Tumor Initiation
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 533 8 0.010 None 1.000 1 2019 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.040 None 1.000 4 1 2017 2019
CUI: C1519670
Disease: Tumor Angiogenesis
Tumor Angiogenesis
phenotype Pathological Conditions, Signs and Symptoms Neoplastic Process 822 5 0.010 None 1.000 1 2015 2015
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 1598 96 0.010 None 1.000 1 2019 2019
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 1674 99 0.010 None 1.000 1 2019 2019
CUI: C0270844
Disease: Tonic Seizures
Tonic Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 108 0.300 None 1.000 1 2016 2016
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 300 32 0.300 None 1.000 1 2016 2016