GCH1, GTP cyclohydrolase 1, 2643

N. diseases: 254; N. variants: 66
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: C0751407
Disease: Pain, Migratory
Pain, Migratory 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 50 0.300 None 1.000 1 2009 2009
CUI: C0751408
Disease: Suffering, Physical
Suffering, Physical 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 50 0.300 None 1.000 1 2009 2009
CUI: C0751701
Disease: Hypokinesia, Antiorthostatic
Hypokinesia, Antiorthostatic 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 3 0.300 None 1.000 1 2007 2007
CUI: C0026858
Disease: Musculoskeletal Pain
Musculoskeletal Pain 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Finding 3 0.300 None 1.000 1 2014 2014
CUI: C0239325
Disease: Extensor Rigidity
Extensor Rigidity 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 5 0.300 None 1.000 1 2007 2007
CUI: C1855483
Disease: Progressive spastic paraplegia
Progressive spastic paraplegia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 59 1 0.300 None 1.000 1 2011 2011
CUI: C0242684
Disease: Hypodynamia
Hypodynamia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Organism Function 3 0.300 None 1.000 1 2007 2007
CUI: C0233608
Disease: Catatonic Rigidity
Catatonic Rigidity 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 5 0.300 None 1.000 1 2007 2007
CUI: C0231519
Disease: Gegenhalten
Gegenhalten 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 5 0.300 None 1.000 1 2007 2007
CUI: C0458259
Disease: Pain, Crushing
Pain, Crushing 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 50 0.300 None 1.000 1 2009 2009
CUI: C0151744
Disease: Myocardial Ischemia
Myocardial Ischemia 		disease Cardiovascular Diseases Disease or Syndrome 756 103 0.300 None 1.000 1 2005 2005
CUI: C0393588
Disease: Dystonia, Paroxysmal
Dystonia, Paroxysmal 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 28 4 0.300 None 1.000 1 2004 2004
CUI: C0151564
Disease: Cogwheel Rigidity
Cogwheel Rigidity 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 24 1 0.300 None 1.000 1 2007 2007
CUI: C0086439
Disease: Hypokinesia
Hypokinesia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 47 2 0.300 None 1.000 1 2007 2007
CUI: C0458257
Disease: Pain, Splitting
Pain, Splitting 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 50 0.300 None 1.000 1 2009 2009
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		disease Nervous System Diseases Disease or Syndrome 2078 990 0.200 None 1.000 33 3 1996 2019
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		group Nervous System Diseases Disease or Syndrome 373 95 0.200 None 0.913 23 1995 2017
CUI: C0751435
Disease: Hyperphenylalaninaemia
Hyperphenylalaninaemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 30 38 0.200 None 0.909 11 1 1998 2018
CUI: C2673535
Disease: DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		disease Nervous System Diseases Disease or Syndrome 4 56 0.120 None 1.000 2 4 2004 2007
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1719 297 0.110 None 1.000 1 2015 2015
CUI: C0040822
Disease: Tremor
Tremor 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 528 52 0.110 None 1.000 1 2012 2012
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders 		group Nervous System Diseases Disease or Syndrome 167 37 0.100 None 0.974 39 1 1991 2019
CUI: C0162701
Disease: Polysomnography
Polysomnography 		phenotype Diagnostic Procedure 119 249 0.100 None 1.000 1 1 2012 2012
CUI: C0202202
Disease: Protein measurement
Protein measurement 		group Laboratory Procedure 75 422 0.100 None 1.000 1 22 2012 2012
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		phenotype Laboratory Procedure 283 679 0.100 None 1.000 1 2 2012 2012