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: C1402315
Disease: Vascular lesions
Vascular lesions 		disease Disease or Syndrome 111 9 0.010 None 1.000 1 2 2011 2011
CUI: C2363903
Disease: Angiocentric glioma
Angiocentric glioma 		disease Neoplastic Process 3 3 0.010 None 1.000 1 1 2012 2012
CUI: C3539781
Disease: Progressive cGVHD
Progressive cGVHD 		disease Disease or Syndrome 384 40 0.010 None 1.000 1 2011 2011
CUI: C3828464
Disease: Proneural Glioblastoma
Proneural Glioblastoma 		disease Neoplastic Process 7 0.010 None 1.000 1 2015 2015
CUI: C3839280
Disease: High grade serous carcinoma
High grade serous carcinoma 		disease Neoplastic Process 118 1 0.010 None 1.000 1 2019 2019
CUI: C3888391
Disease: Nonnuclear polymorphic congenital cataract
Nonnuclear polymorphic congenital cataract 		disease Congenital Abnormality 71 0.010 None 1.000 1 2016 2016
CUI: C4324336
Disease: Hyperleukocytosis
Hyperleukocytosis 		disease Disease or Syndrome 21 0.010 None 1.000 1 2016 2016
CUI: C4329735
Disease: Diffuse leptomeningeal glioneuronal neoplasm
Diffuse leptomeningeal glioneuronal neoplasm 		disease Neoplastic Process 3 0.010 None 1.000 1 2019 2019
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0
CUI: C0544886
Disease: Somatic mutation
Somatic mutation 		phenotype Cell or Molecular Dysfunction 151 0.100 None 0
CUI: C1844704
Disease: Platyspondyly
Platyspondyly 		phenotype Finding 93 3 0.100 None 0
CUI: C1846821
Disease: Abnormality of coagulation
Abnormality of coagulation 		phenotype Finding 59 15 0.100 None 0
CUI: C1963077
Disease: Bone Pain, CTCAE 3.0
Bone Pain, CTCAE 3.0 		phenotype Finding 67 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype Finding 1010 0.100 None 0
CUI: C3805574
Disease: Increased fracture rate
Increased fracture rate 		phenotype Finding 123 0.100 None 0
CUI: C4016231
Disease: GLIOBLASTOMA MULTIFORME, SOMATIC
GLIOBLASTOMA MULTIFORME, SOMATIC 		disease Finding 1 1 0.100 None 0 1
CUI: C4021977
Disease: Visceral angiomatosis
Visceral angiomatosis 		disease Disease or Syndrome 17 0.100 None 0
CUI: C4025814
Disease: Abnormality of the metaphysis
Abnormality of the metaphysis 		disease Anatomical Abnormality 97 0.100 None 0
CUI: C4554063
Disease: Bone Pain, CTCAE 5.0
Bone Pain, CTCAE 5.0 		phenotype Finding 67 0.100 None 0
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		phenotype Cardiovascular Diseases Disease or Syndrome 378 408 0.040 None 1.000 4 2018 2019
CUI: C0003504
Disease: Aortic Valve Insufficiency
Aortic Valve Insufficiency 		disease Cardiovascular Diseases Disease or Syndrome 377 8 0.010 None 1.000 1 2019 2019
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.010 None 1.000 1 2018 2018
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		disease Cardiovascular Diseases Disease or Syndrome 773 243 0.010 None 1.000 1 2018 2018
CUI: C0042487
Disease: Venous Thrombosis
Venous Thrombosis 		phenotype Cardiovascular Diseases Pathologic Function 117 218 0.100 None 0
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73 0.010 None 1.000 1 1 2013 2013