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: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.100 None 1.000 13 1 2014 2020
CUI: C1608408
Disease: Malignant transformation
Malignant transformation
phenotype Neoplastic Process 1027 20 0.100 None 0.917 12 1 2011 2018
Childhood Pleomorphic Xanthoastrocytoma
disease Neoplastic Process 42 7 0.050 None 1.000 5 1 2016 2019
CUI: C0279068
Disease: Childhood Solid Neoplasm
Childhood Solid Neoplasm
phenotype Neoplastic Process 169 3 0.040 None 1.000 4 2010 2020
CUI: C0280099
Disease: Adult Solid Neoplasm
Adult Solid Neoplasm
group Neoplastic Process 163 3 0.040 None 1.000 4 2010 2020
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor
phenotype Neoplastic Process 735 33 0.040 None 1.000 4 1 2013 2019
CUI: C1541567
Disease: Adult Oligodendroglial Tumor
Adult Oligodendroglial Tumor
disease Neoplastic Process 14 2 0.030 None 1.000 3 2011 2016
Childhood Anaplastic Oligoastrocytoma
disease Neoplastic Process 7 4 0.030 None 1.000 3 1 2013 2016
CUI: C4330050
Disease: WHO Grade II Glioma
WHO Grade II Glioma
disease Neoplastic Process 11 0.030 None 1.000 3 2017 2018
CUI: C4525297
Disease: Stage 0 Gallbladder Cancer AJCC v8
Stage 0 Gallbladder Cancer AJCC v8
disease Neoplastic Process 367 56 0.030 None 1.000 3 2017 2019
Stage IIA Gallbladder Cancer AJCC v8
disease Neoplastic Process 367 56 0.030 None 1.000 3 2017 2019
Stage IIB Gallbladder Cancer AJCC v8
disease Neoplastic Process 367 56 0.030 None 1.000 3 2017 2019
Stage III Gallbladder Cancer AJCC v8
disease Neoplastic Process 367 56 0.030 None 1.000 3 2017 2019
CUI: C4525305
Disease: Stage IV Gallbladder Cancer AJCC v8
Stage IV Gallbladder Cancer AJCC v8
disease Neoplastic Process 367 56 0.030 None 1.000 3 2017 2019
Malignant neoplasm of colon and/or rectum
disease Neoplastic Process 3669 502 0.030 None 1.000 3 1 2014 2016
METAPHYSEAL ENCHONDROMATOSIS WITH D-2-HYDROXYGLUTARIC ACIDURIA
disease Disease or Syndrome 1 1 0.610 strong 1.000 2 1 2011 2011
CUI: C3897752
Disease: Recurrent Childhood Glioblastoma
Recurrent Childhood Glioblastoma
disease Neoplastic Process 51 1 0.020 None 1.000 2 1 2012 2016
CUI: C4289580
Disease: Epithelioid glioblastoma
Epithelioid glioblastoma
disease Neoplastic Process 24 3 0.020 None 1.000 2 2017 2018
CUI: C0026985
Disease: Myelodysplasia
Myelodysplasia
disease Congenital Abnormality 181 4 0.010 None 1.000 1 2014 2014
CUI: C0221505
Disease: Lesion of brain
Lesion of brain
group Disease or Syndrome 188 9 0.010 None 1.000 1 2010 2010
CUI: C0279603
Disease: Chondroblastic osteosarcoma
Chondroblastic osteosarcoma
disease Neoplastic Process 3 0.010 None 1.000 1 2013 2013
CUI: C0677932
Disease: Progressive Neoplastic Disease
Progressive Neoplastic Disease
phenotype Neoplastic Process 384 40 0.010 None 1.000 1 2011 2011
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia
disease Neoplastic Process 860 154 0.010 None 1.000 1 2012 2012
CUI: C1301721
Disease: Neurological morbidity
Neurological morbidity
disease Disease or Syndrome 8 0.010 None 1.000 1 2016 2016
CUI: C1336733
Disease: Thalamic Neoplasm
Thalamic Neoplasm
disease Neoplastic Process 2 0.010 None 1.000 1 2017 2017