IDH1, isocitrate dehydrogenase (NADP(+)) 1, 3417

N. diseases: 399; N. variants: 10
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.
METAPHYSEAL ENCHONDROMATOSIS WITH D-2-HYDROXYGLUTARIC ACIDURIA
disease Disease or Syndrome 1 1 0.610 strong 1.000 2 1 2011 2011
CUI: C1333067
Disease: Clear Cell Hepatocellular Carcinoma
Clear Cell Hepatocellular Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 1 1 0.010 None 1.000 1 1 2017 2017
Intrahepatic cholangiocarcinoma recurrent
disease Neoplasms Neoplastic Process 1 0.010 None 1.000 1 2018 2018
CUI: C4016231
Disease: GLIOBLASTOMA MULTIFORME, SOMATIC
GLIOBLASTOMA MULTIFORME, SOMATIC
disease Finding 1 1 0.100 None 0 1
CUI: C4289981
Disease: Anaplastic Astrocytoma, IDH-Mutant
Anaplastic Astrocytoma, IDH-Mutant
disease Neoplasms Neoplastic Process 2 0.020 None 1.000 2 2016 2018
CUI: C1336733
Disease: Thalamic Neoplasm
Thalamic Neoplasm
disease Neoplastic Process 2 0.010 None 1.000 1 2017 2017
Oligodendroglioma, IDH-Mutant and 1p/19q-Codeleted
disease Neoplasms Neoplastic Process 2 0.010 None 1.000 1 2017 2017
CUI: C4289691
Disease: Diffuse Astrocytoma, IDH-Wildtype
Diffuse Astrocytoma, IDH-Wildtype
disease Neoplasms Neoplastic Process 2 0.010 None 1.000 1 2020 2020
CUI: C0153886
Disease: Acute myeloid leukemia in remission
Acute myeloid leukemia in remission
disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 3 0.010 None 1.000 1 2019 2019
CUI: C0279603
Disease: Chondroblastic osteosarcoma
Chondroblastic osteosarcoma
disease Neoplastic Process 3 0.010 None 1.000 1 2013 2013
CUI: C2363903
Disease: Angiocentric glioma
Angiocentric glioma
disease Neoplastic Process 3 3 0.010 None 1.000 1 1 2012 2012
Diffuse leptomeningeal glioneuronal neoplasm
disease Neoplastic Process 3 0.010 None 1.000 1 2019 2019
CUI: C1384590
Disease: Hemangiomatosis
Hemangiomatosis
disease Neoplasms; Cardiovascular Diseases Neoplastic Process 3 1 0.100 None 0
CUI: C0349620
Disease: Pilocytic astrocytoma of cerebellum
Pilocytic astrocytoma of cerebellum
disease Neoplasms; Nervous System Diseases Neoplastic Process 4 3 0.020 None 1.000 2 1 2013 2015
CUI: C0151295
Disease: Mononeuritis Multiplex
Mononeuritis Multiplex
disease Nervous System Diseases Disease or Syndrome 4 0.010 None 1.000 1 1998 1998
CUI: C0795824
Disease: Chromosome 8, monosomy 8p
Chromosome 8, monosomy 8p
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 4 0.010 None 1.000 1 2010 2010
CUI: C1272516
Disease: Small cell glioblastoma
Small cell glioblastoma
disease Neoplasms Neoplastic Process 4 0.010 None 1.000 1 2014 2014
Glioneuronal Tumor with Neuropil-Like Islands
disease Neoplasms Neoplastic Process 4 1 0.010 None 1.000 1 1 2012 2012
CUI: C0795825
Disease: Chromosome 8, trisomy 8p
Chromosome 8, trisomy 8p
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 5 0.010 None 1.000 1 2012 2012
Diffuse infiltrative lymphocytosis syndrome
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 5 0.010 None 1.000 1 1998 1998
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 2013 2013
Papillary tumor of the pineal region
disease Neoplasms Neoplastic Process 5 2 0.010 None 1.000 1 2013 2013
Anaplastic Astrocytoma, IDH-Wildtype
disease Neoplasms Neoplastic Process 5 0.010 None 1.000 1 2020 2020
CUI: C0795796
Disease: Chromosome 1, monosomy 1p
Chromosome 1, monosomy 1p
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 6 0.020 None 1.000 2 2015 2019
CUI: C0205789
Disease: Hemangioma, Intramuscular
Hemangioma, Intramuscular
disease Neoplasms Neoplastic Process 6 0.300 None 1.000 1 2011 2011