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: C4284013
Disease: Primary cholangiocarcinoma of intrahepatic biliary tract
Primary cholangiocarcinoma of intrahepatic biliary tract 		disease Neoplasms Neoplastic Process 274 10 0.100 None 0.929 14 2 2013 2019
CUI: C0023418
Disease: leukemia
leukemia 		disease Neoplasms Neoplastic Process 2111 144 0.100 None 1.000 13 2010 2019
CUI: C1332200
Disease: Adult Diffuse Astrocytoma
Adult Diffuse Astrocytoma 		disease Neoplasms Neoplastic Process 21 2 0.100 None 1.000 13 2012 2019
CUI: C0024454
Disease: Maffucci Syndrome
Maffucci Syndrome 		disease Musculoskeletal Diseases Disease or Syndrome 8 0.700 None 1.000 11 2011 2019
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma 		disease Neoplasms Neoplastic Process 877 43 0.600 None 1.000 11 2012 2020
CUI: C1845055
Disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 42 32 0.100 None 1.000 11 2 2016 2019
CUI: C3899668
Disease: Childhood Diffuse Astrocytoma
Childhood Diffuse Astrocytoma 		disease Neoplasms Neoplastic Process 21 2 0.100 None 1.000 11 2012 2019
CUI: C0280790
Disease: Adult Anaplastic Oligodendroglioma
Adult Anaplastic Oligodendroglioma 		disease Neoplasms Neoplastic Process 29 4 0.100 None 1.000 10 1 2010 2019
CUI: C1332943
Disease: Childhood Anaplastic Oligodendroglioma
Childhood Anaplastic Oligodendroglioma 		disease Neoplasms Neoplastic Process 29 4 0.100 None 1.000 10 1 2010 2019
CUI: C1514422
Disease: Glioblastoma, IDH-Wildtype
Glioblastoma, IDH-Wildtype 		disease Neoplasms Neoplastic Process 75 4 0.100 None 1.000 10 1 2012 2020
CUI: C4722099
Disease: High grade glioma
High grade glioma 		disease Neoplasms Neoplastic Process 190 15 0.100 None 1.000 10 1 2010 2019
CUI: C0014084
Disease: Enchondromatosis
Enchondromatosis 		disease Musculoskeletal Diseases Disease or Syndrome 22 2 0.790 None 1.000 9 2011 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.470 None 0.778 9 3 2012 2019
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		disease Hemic and Lymphatic Diseases Neoplastic Process 282 29 0.080 None 0.875 8 1 2010 2018
CUI: C0153633
Disease: Malignant neoplasm of brain
Malignant neoplasm of brain 		disease Neoplasms; Nervous System Diseases Neoplastic Process 294 16 0.380 None 1.000 8 1 2009 2018
CUI: C0280793
Disease: Mixed Oligodendroglioma-Astrocytoma
Mixed Oligodendroglioma-Astrocytoma 		disease Neoplasms Neoplastic Process 28 3 0.370 None 1.000 8 1 2010 2017
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4502 1082 0.370 None 1.000 8 1 2009 2020
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease Nervous System Diseases Disease or Syndrome 1215 339 0.070 None 0.857 7 1 2011 2018
CUI: C0025202
Disease: melanoma
melanoma 		disease Neoplasms Neoplastic Process 3087 515 0.070 None 0.857 7 1 2010 2019
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		disease Neoplasms Neoplastic Process 1740 140 0.070 None 1.000 7 2012 2017
CUI: C1704356
Disease: Enchondroma
Enchondroma 		disease Neoplasms Neoplastic Process 41 13 0.360 None 1.000 7 2 2011 2019
CUI: C3899649
Disease: Childhood Oligoastrocytoma
Childhood Oligoastrocytoma 		disease Neoplasms Neoplastic Process 23 3 0.070 None 1.000 7 1 2010 2017
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.360 None 0.667 6 2 2014 2018
CUI: C0018916
Disease: Hemangioma
Hemangioma 		disease Neoplasms Neoplastic Process 256 24 0.360 None 1.000 6 2 2011 2018
CUI: C0206716
Disease: Ganglioglioma
Ganglioglioma 		disease Neoplasms Neoplastic Process 91 7 0.060 None 0.833 6 2009 2017