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: C0334587
Disease: Astroblastoma
Astroblastoma 		disease Neoplasms Neoplastic Process 6 4 0.010 None 1.000 1 2015 2015
CUI: C0476147
Disease: Chondrogenic Neoplasm
Chondrogenic Neoplasm 		disease Neoplasms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Neoplastic Process 6 0.010 None 1.000 1 2016 2016
CUI: C2746066
Disease: Combined D-2- and L-2-hydroxyglutaric aciduria
Combined D-2- and L-2-hydroxyglutaric aciduria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 6 14 0.010 None 1.000 1 2013 2013
CUI: C0431108
Disease: Anaplastic Oligoastrocytoma
Anaplastic Oligoastrocytoma 		disease Neoplasms Neoplastic Process 7 4 0.030 None 1.000 3 1 2013 2016
CUI: C3899676
Disease: Childhood Anaplastic Oligoastrocytoma
Childhood Anaplastic Oligoastrocytoma 		disease Neoplastic Process 7 4 0.030 None 1.000 3 1 2013 2016
CUI: C0344461
Disease: Oligodendroblastoma
Oligodendroblastoma 		disease Neoplasms Neoplastic Process 7 0.300 None 1.000 1 2010 2010
CUI: C0751395
Disease: Mixed Oligodendroglioma-Ependymoma
Mixed Oligodendroglioma-Ependymoma 		disease Neoplasms Neoplastic Process 7 0.300 None 1.000 1 2010 2010
CUI: C3828464
Disease: Proneural Glioblastoma
Proneural Glioblastoma 		disease Neoplastic Process 7 0.010 None 1.000 1 2015 2015
CUI: C0024454
Disease: Maffucci Syndrome
Maffucci Syndrome 		disease Musculoskeletal Diseases Disease or Syndrome 8 0.700 None 1.000 11 2011 2019
CUI: C1301721
Disease: Neurological morbidity
Neurological morbidity 		disease Disease or Syndrome 8 0.010 None 1.000 1 2016 2016
CUI: C2826177
Disease: Acute myeloid leukemia with mutated NPM1
Acute myeloid leukemia with mutated NPM1 		disease Neoplasms Neoplastic Process 8 0.010 None 1.000 1 2019 2019
CUI: C4289690
Disease: Diffuse Glioma
Diffuse Glioma 		disease Neoplasms Neoplastic Process 9 7 0.100 None 1.000 17 1 2011 2020
CUI: C3897070
Disease: Childhood Gliomatosis Cerebri
Childhood Gliomatosis Cerebri 		disease Neoplasms Neoplastic Process 9 6 0.060 None 1.000 6 1 2010 2017
CUI: C0677608
Disease: Chorioangioma
Chorioangioma 		disease Neoplasms Neoplastic Process 9 0.300 None 1.000 1 2011 2011
CUI: C4054891
Disease: Grade III Chondrosarcoma
Grade III Chondrosarcoma 		disease Neoplasms Neoplastic Process 9 0.010 None 1.000 1 2020 2020
CUI: C0334576
Disease: Gliomatosis cerebri
Gliomatosis cerebri 		disease Neoplasms Neoplastic Process 10 6 0.060 None 1.000 6 1 2010 2017
CUI: C1335473
Disease: Primary chondrosarcoma of bone
Primary chondrosarcoma of bone 		disease Neoplasms Neoplastic Process 10 0.040 None 1.000 4 2015 2019
CUI: C4287997
Disease: WHO Grade III Glioma
WHO Grade III Glioma 		disease Neoplasms Neoplastic Process 10 0.040 None 1.000 4 2012 2019
CUI: C0948209
Disease: Intestinal adenocarcinoma
Intestinal adenocarcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 10 0.020 None 1.000 2 2014 2018
CUI: C1622510
Disease: Neurocytoma
Neurocytoma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 10 0.010 None 1.000 1 2011 2011
CUI: C4330050
Disease: WHO Grade II Glioma
WHO Grade II Glioma 		disease Neoplastic Process 11 0.030 None 1.000 3 2017 2018
CUI: C1710096
Disease: Sinonasal undifferentiated carcinoma
Sinonasal undifferentiated carcinoma 		disease Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Neoplastic Process 11 8 0.010 None 1.000 1 1 2019 2019
CUI: C1959588
Disease: Angioma
Angioma 		disease Neoplasms Neoplastic Process 11 1 0.300 None 1.000 1 2011 2011
CUI: C0038874
Disease: Supratentorial Neoplasms
Supratentorial Neoplasms 		group Neoplasms; Nervous System Diseases Neoplastic Process 12 2 0.010 None 1.000 1 2012 2012
CUI: C1710095
Disease: paranasal sinus and nasal cavity cancer
paranasal sinus and nasal cavity cancer 		disease Neoplasms Neoplastic Process 12 0.010 None 1.000 1 2018 2018