UCHL1, ubiquitin C-terminal hydrolase L1, 7345

N. diseases: 260; N. variants: 7
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: C0028738
Disease: Nystagmus
Nystagmus 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 833 95 0.100 None 0
CUI: C0278097
Disease: Abnormal male sexual function
Abnormal male sexual function 		disease Mental or Behavioral Dysfunction 12 0.100 None 0
CUI: C0027746
Disease: Nerve Degeneration
Nerve Degeneration 		phenotype Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 165 17 0.100 None 0
CUI: C0040822
Disease: Tremor
Tremor 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 528 52 0.100 None 0
CUI: C0016202
Disease: Flatfoot
Flatfoot 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 285 38 0.100 None 0
CUI: C0015644
Disease: Muscular fasciculation
Muscular fasciculation 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 99 2 0.100 None 0
CUI: C0270790
Disease: Quadriparesis
Quadriparesis 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 42 5 0.100 None 0
CUI: C0262630
Disease: Reduced concentration span
Reduced concentration span 		phenotype Behavior and Behavior Mechanisms Finding 77 2 0.100 None 0
CUI: C0013421
Disease: Dystonia
Dystonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 453 97 0.100 None 0
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 316 42 0.100 None 0
CUI: C0013363
Disease: Dysautonomia
Dysautonomia 		disease Nervous System Diseases Disease or Syndrome 148 18 0.100 None 0
CUI: C0012569
Disease: Diplopia
Diplopia 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 75 5 0.100 None 0
CUI: C0011991
Disease: Diarrhea
Diarrhea 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 632 63 0.100 None 0
CUI: C0085631
Disease: Agitation
Agitation 		phenotype Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Sign or Symptom 109 4 0.100 None 0
CUI: C0018524
Disease: Hallucinations
Hallucinations 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 178 18 0.100 None 0
CUI: C1112443
Disease: Male sexual dysfunction
Male sexual dysfunction 		disease Disease or Syndrome 12 0.100 None 0
CUI: C1112442
Disease: Female sexual dysfunction
Female sexual dysfunction 		disease Mental or Behavioral Dysfunction 22 3 0.100 None 0
CUI: C0027497
Disease: Nausea
Nausea 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 161 14 0.100 None 0
CUI: C0027092
Disease: Myopia
Myopia 		disease Eye Diseases Disease or Syndrome 490 167 0.100 None 0
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		phenotype Finding 218 11 0.100 None 0
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 320 25 0.100 None 0
CUI: C0684219
Disease: Myokymia
Myokymia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 15 2 0.100 None 0
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease Disease or Syndrome 321 67 0.100 None 0
CUI: C0338455
Disease: Dementia of frontal lobe type
Dementia of frontal lobe type 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 20 0.100 None 0
CUI: C0037763
Disease: Spasm
Spasm 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 172 9 0.100 None 0