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: C0268306
Disease: Unconjugated hyperbilirubinemia
Unconjugated hyperbilirubinemia 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 23 4 0.020 None 1.000 2 2017 2018
CUI: C0795796
Disease: Chromosome 1, monosomy 1p
Chromosome 1, monosomy 1p 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 6 0.020 None 1.000 2 2015 2019
CUI: C3553958
Disease: METAPHYSEAL ENCHONDROMATOSIS WITH D-2-HYDROXYGLUTARIC ACIDURIA
METAPHYSEAL ENCHONDROMATOSIS WITH D-2-HYDROXYGLUTARIC ACIDURIA 		disease Disease or Syndrome 1 1 0.610 strong 1.000 2 1 2011 2011
CUI: C4317109
Disease: Epileptic Seizures
Epileptic Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 250 7 0.020 None 1.000 2 1 2018 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.010 None 1.000 1 2019 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: C0007965
Disease: Chediak-Higashi Syndrome
Chediak-Higashi Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 41 14 0.010 None 1.000 1 2018 2018
CUI: C0018939
Disease: Hematological Disease
Hematological Disease 		group Hemic and Lymphatic Diseases Disease or Syndrome 255 16 0.010 None 1.000 1 2010 2010
CUI: C0019693
Disease: HIV Infections
HIV Infections 		group Infections; Immune System Diseases Disease or Syndrome 807 142 0.010 None 1.000 1 2010 2010
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome 978 115 0.010 None 1.000 1 2016 2016
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.010 None 1.000 1 2018 2018
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes 		group Immune System Diseases Disease or Syndrome 973 31 0.010 None 1.000 1 2010 2010
CUI: C0022660
Disease: Kidney Failure, Acute
Kidney Failure, Acute 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 826 32 0.010 None 1.000 1 2011 2011
CUI: C0022783
Disease: Vulvar Lichen Sclerosus
Vulvar Lichen Sclerosus 		disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 25 0.010 None 1.000 1 2014 2014
CUI: C0024790
Disease: Paroxysmal nocturnal hemoglobinuria
Paroxysmal nocturnal hemoglobinuria 		disease Hemic and Lymphatic Diseases Disease or Syndrome 132 12 0.010 None 1.000 1 2015 2015
CUI: C0025517
Disease: Metabolic Diseases
Metabolic Diseases 		group Nutritional and Metabolic Diseases Disease or Syndrome 945 50 0.010 None 1.000 1 2012 2012
CUI: C0035243
Disease: Respiratory Tract Infections
Respiratory Tract Infections 		group Infections; Respiratory Tract Diseases Disease or Syndrome 187 10 0.010 None 1.000 1 2019 2019
CUI: C0035436
Disease: Rheumatic Fever
Rheumatic Fever 		disease Infections; Musculoskeletal Diseases Disease or Syndrome 94 5 0.010 None 1.000 1 2011 2011
CUI: C0037284
Disease: Skin lesion
Skin lesion 		group Skin and Connective Tissue Diseases Disease or Syndrome 563 52 0.010 None 1.000 1 2018 2018
CUI: C0151295
Disease: Mononeuritis Multiplex
Mononeuritis Multiplex 		disease Nervous System Diseases Disease or Syndrome 4 0.010 None 1.000 1 1998 1998
CUI: C0158266
Disease: Intervertebral Disc Degeneration
Intervertebral Disc Degeneration 		disease Musculoskeletal Diseases Disease or Syndrome 342 47 0.010 None 1.000 1 2017 2017
CUI: C0162836
Disease: Hidradenitis Suppurativa
Hidradenitis Suppurativa 		disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 82 2 0.010 None 1.000 1 2018 2018
CUI: C0221505
Disease: Lesion of brain
Lesion of brain 		group Disease or Syndrome 188 9 0.010 None 1.000 1 2010 2010
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 1179 64 0.010 None 1.000 1 2017 2017
CUI: C0264490
Disease: Acute respiratory failure
Acute respiratory failure 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Respiratory Tract Diseases Disease or Syndrome 78 5 0.010 None 1.000 1 2011 2011