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: C1851920
Disease: Dopa-Responsive Dystonia
Dopa-Responsive Dystonia 		disease Nervous System Diseases Disease or Syndrome 28 33 0.800 None 0.939 148 28 1989 2019
CUI: C0013421
Disease: Dystonia
Dystonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 453 97 0.700 None 0.982 55 3 1991 2019
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: 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: C0268467
Disease: Hyperphenylalaninemia, BH4-Deficient, B
Hyperphenylalaninemia, BH4-Deficient, B 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 4 13 0.750 None 1.000 32 13 1994 2019
CUI: C0030193
Disease: Pain
Pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1554 196 0.400 None 0.885 26 2007 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: C0026650
Disease: Movement Disorders
Movement Disorders 		group Nervous System Diseases Disease or Syndrome 362 247 0.090 None 1.000 9 2003 2019
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 316 42 0.080 None 1.000 8 1999 2017
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease 		disease Nervous System Diseases Disease or Syndrome 51 32 0.070 None 1.000 7 2003 2017
CUI: C0856169
Disease: Endothelial dysfunction
Endothelial dysfunction 		phenotype Disease or Syndrome 716 25 0.070 None 1.000 7 2004 2020
CUI: C0013423
Disease: Dystonia Musculorum Deformans
Dystonia Musculorum Deformans 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 26 1 0.060 None 1.000 6 1991 2002
CUI: C0752202
Disease: Childhood Onset Dystonias
Childhood Onset Dystonias 		disease Nervous System Diseases Disease or Syndrome 13 8 0.050 None 0.800 5 1999 2017
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia 		disease Nervous System Diseases Disease or Syndrome 19 29 0.050 None 1.000 5 1991 2019
CUI: C0752105
Disease: Parkinsonism, Juvenile
Parkinsonism, Juvenile 		disease Nervous System Diseases Disease or Syndrome 40 2 0.050 None 1.000 5 1995 2003
CUI: C0027796
Disease: Neuralgia
Neuralgia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 767 16 0.040 None 1.000 4 2007 2019
CUI: C0751093
Disease: Dystonia, Limb
Dystonia, Limb 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 42 9 0.430 None 1.000 4 2004 2017
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 2006 267 0.040 None 1.000 4 2004 2018
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 2044 281 0.040 None 1.000 4 2004 2018
CUI: C4524082
Disease: Segawa syndrome
Segawa syndrome 		disease Disease or Syndrome 2 1 0.040 None 1.000 4 1989 2009
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.420 None 1.000 3 2003 2018
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.030 None 1.000 3 2013 2017
CUI: C0033975
Disease: Psychotic Disorders
Psychotic Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 560 179 0.330 None 1.000 3 2014 2019
CUI: C0393610
Disease: Dystonia, Diurnal
Dystonia, Diurnal 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 18 0.320 None 1.000 3 2000 2004