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: C0042487
Disease: Venous Thrombosis
Venous Thrombosis
phenotype Cardiovascular Diseases Pathologic Function 117 218 0.100 None 0
CUI: C0262587
Disease: Parathyroid Adenoma
Parathyroid Adenoma
disease Neoplasms; Endocrine System Diseases Neoplastic Process 133 12 0.100 None 0
CUI: C0001618
Disease: Tumors of Adrenal Cortex
Tumors of Adrenal Cortex
group Neoplasms; Endocrine System Diseases Neoplastic Process 74 5 0.100 None 0
CUI: C0024221
Disease: Lymphangioma
Lymphangioma
disease Neoplasms Neoplastic Process 22 1 0.100 None 0
CUI: C0151811
Disease: Subcutaneous nodule
Subcutaneous nodule
phenotype Neoplasms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Pathologic Function 80 1 0.100 None 0
CUI: C1442903
Disease: Exostoses
Exostoses
phenotype Musculoskeletal Diseases Disease or Syndrome 37 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: C0151825
Disease: Bone pain
Bone pain
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Sign or Symptom 139 0.100 None 0
CUI: C0205647
Disease: Follicular adenoma
Follicular adenoma
disease Neoplasms Neoplastic Process 183 5 0.010 None < 0.001 1 2014 2014
CUI: C4282128
Disease: PATENT DUCTUS ARTERIOSUS 1
PATENT DUCTUS ARTERIOSUS 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 229 12 0.010 None < 0.001 1 2018 2018
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 510 56 0.010 None < 0.001 1 2018 2018
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1183 839 0.010 None < 0.001 1 2016 2016
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm
group Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 2492 85 0.010 None < 0.001 1 2010 2010
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma
disease Neoplasms; Eye Diseases Neoplastic Process 376 22 0.020 None 0.500 2 1 2016 2018
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 291 38 0.050 None 0.600 5 1 2010 2018
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: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 3926 712 0.030 None 0.667 3 1 2012 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.130 None 0.667 3 1 2012 2018
CUI: C1332969
Disease: Childhood Ganglioglioma
Childhood Ganglioglioma
disease Neoplasms Neoplastic Process 38 4 0.030 None 0.667 3 2011 2017
CUI: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.100 None 0.714 14 1 2011 2019
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
disease Hemic and Lymphatic Diseases Disease or Syndrome 220 37 0.040 None 0.750 4 2010 2016
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
Congenital contractural arachnodactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 559 48 0.060 None 0.833 6 2014 2018
CUI: C0206716
Disease: Ganglioglioma
Ganglioglioma
disease Neoplasms Neoplastic Process 91 7 0.060 None 0.833 6 2009 2017
CUI: C0025202
Disease: melanoma
melanoma
disease Neoplasms Neoplastic Process 3087 515 0.070 None 0.857 7 1 2010 2019