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.
CUI: C1442903
Disease: Exostoses
Exostoses 		phenotype Musculoskeletal Diseases Disease or Syndrome 37 0.100 None 0
CUI: C0005426
Disease: Biliary Tract Neoplasm
Biliary Tract Neoplasm 		disease Digestive System Diseases; Neoplasms Neoplastic Process 17 3 0.300 None 0
CUI: C4554063
Disease: Bone Pain, CTCAE 5.0
Bone Pain, CTCAE 5.0 		phenotype Finding 67 0.100 None 0
CUI: C0544886
Disease: Somatic mutation
Somatic mutation 		phenotype Cell or Molecular Dysfunction 151 0.100 None 0
CUI: C3805574
Disease: Increased fracture rate
Increased fracture rate 		phenotype Finding 123 0.100 None 0
CUI: C0162298
Disease: Joint stiffness
Joint stiffness 		phenotype Musculoskeletal Diseases Sign or Symptom 163 14 0.100 None 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		disease Musculoskeletal Diseases Disease or Syndrome 850 135 0.100 None 0
CUI: C0151311
Disease: Cranial nerve palsies
Cranial nerve palsies 		disease Nervous System Diseases Disease or Syndrome 81 1 0.100 None 0
CUI: C0270922
Disease: Peripheral demyelinating neuropathy
Peripheral demyelinating neuropathy 		disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 95 14 0.010 None 1.000 1 1998 1998
CUI: C0151295
Disease: Mononeuritis Multiplex
Mononeuritis Multiplex 		disease Nervous System Diseases Disease or Syndrome 4 0.010 None 1.000 1 1998 1998
CUI: C1333292
Disease: Diffuse infiltrative lymphocytosis syndrome
Diffuse infiltrative lymphocytosis syndrome 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 5 0.010 None 1.000 1 1998 1998
CUI: C0442874
Disease: Neuropathy
Neuropathy 		group Nervous System Diseases Disease or Syndrome 484 110 0.010 None 1.000 1 1998 1998
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 718 159 0.010 None 1.000 1 2004 2004
CUI: C0497327
Disease: Dementia
Dementia 		disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 816 176 0.010 None 1.000 1 2004 2004
CUI: C0017638
Disease: Glioma
Glioma 		disease Neoplasms Neoplastic Process 3097 353 0.700 None 0.984 373 3 2008 2020
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		disease Neoplasms Neoplastic Process 3177 281 0.200 None 0.975 357 3 2008 2020
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		disease Neoplasms Neoplastic Process 3197 186 0.500 None 0.977 257 3 2008 2020
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		disease Neoplasms Neoplastic Process 985 59 0.200 None 0.959 121 3 2008 2020
CUI: C0751396
Disease: Well Differentiated Oligodendroglioma
Well Differentiated Oligodendroglioma 		disease Neoplasms Neoplastic Process 270 22 0.400 None 0.986 72 1 2008 2020
CUI: C0028945
Disease: oligodendroglioma
oligodendroglioma 		disease Neoplasms Neoplastic Process 282 21 0.400 None 0.986 72 1 2008 2020
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		group Neoplasms; Nervous System Diseases Neoplastic Process 1018 204 0.500 None 1.000 46 3 2008 2019
CUI: C0206726
Disease: gliosarcoma
gliosarcoma 		disease Neoplasms Neoplastic Process 80 5 0.350 None 1.000 6 2008 2019
CUI: C0334588
Disease: Giant Cell Glioblastoma
Giant Cell Glioblastoma 		disease Neoplasms Neoplastic Process 95 3 0.310 None 1.000 2 2008 2016
CUI: C0004936
Disease: Mental disorders
Mental disorders 		group Mental Disorders Mental or Behavioral Dysfunction 789 149 0.010 None 1.000 1 2008 2008
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.100 None 0.971 416 4 2009 2020