Source: HPO

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 7345
Gene Symbol: UCHL1
UCHL1 		ubiquitin C-terminal hydrolase L1 0.482 0.885 0.99
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		phenotype 0.110 None 1.000 0 0 2018 2018
Entrez Id: 7345
Gene Symbol: UCHL1
UCHL1 		ubiquitin C-terminal hydrolase L1 0.482 0.885 0.99
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		disease 0.110 None 1.000 0 0 2015 2015
Entrez Id: 7345
Gene Symbol: UCHL1
UCHL1 		ubiquitin C-terminal hydrolase L1 0.482 0.885 0.99
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		disease 0.110 None 1.000 0 0 2018 2018
Entrez Id: 7345
Gene Symbol: UCHL1
UCHL1 		ubiquitin C-terminal hydrolase L1 0.482 0.885 0.99
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		disease 0.110 None 1.000 0 0 2018 2018
Entrez Id: 7345
Gene Symbol: UCHL1
UCHL1 		ubiquitin C-terminal hydrolase L1 0.482 0.885 0.99
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		disease 0.100 None 0 0
Entrez Id: 7345
Gene Symbol: UCHL1
UCHL1 		ubiquitin C-terminal hydrolase L1 0.482 0.885 0.99
CUI: C0684219
Disease: Myokymia
Myokymia 		phenotype 0.100 None 0 0
Entrez Id: 7345
Gene Symbol: UCHL1
UCHL1 		ubiquitin C-terminal hydrolase L1 0.482 0.885 0.99
CUI: C0338455
Disease: Dementia of frontal lobe type
Dementia of frontal lobe type 		disease 0.100 None 0 0
Entrez Id: 7345
Gene Symbol: UCHL1
UCHL1 		ubiquitin C-terminal hydrolase L1 0.482 0.885 0.99
CUI: C0233565
Disease: Bradykinesia
Bradykinesia 		phenotype 0.100 None 0 0
Entrez Id: 7345
Gene Symbol: UCHL1
UCHL1 		ubiquitin C-terminal hydrolase L1 0.482 0.885 0.99
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		disease 0.100 None 0 0
Entrez Id: 7345
Gene Symbol: UCHL1
UCHL1 		ubiquitin C-terminal hydrolase L1 0.482 0.885 0.99
CUI: C0278097
Disease: Abnormal male sexual function
Abnormal male sexual function 		disease 0.100 None 0 0
Entrez Id: 7345
Gene Symbol: UCHL1
UCHL1 		ubiquitin C-terminal hydrolase L1 0.482 0.885 0.99
CUI: C0270790
Disease: Quadriparesis
Quadriparesis 		phenotype 0.100 None 0 0
Entrez Id: 7345
Gene Symbol: UCHL1
UCHL1 		ubiquitin C-terminal hydrolase L1 0.482 0.885 0.99
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria 		phenotype 0.100 None 0 0
Entrez Id: 7345
Gene Symbol: UCHL1
UCHL1 		ubiquitin C-terminal hydrolase L1 0.482 0.885 0.99
CUI: C0262630
Disease: Reduced concentration span
Reduced concentration span 		phenotype 0.100 None 0 0
Entrez Id: 7345
Gene Symbol: UCHL1
UCHL1 		ubiquitin C-terminal hydrolase L1 0.482 0.885 0.99
CUI: C0238651
Disease: Ankle clonus
Ankle clonus 		phenotype 0.100 None 0 0
Entrez Id: 7345
Gene Symbol: UCHL1
UCHL1 		ubiquitin C-terminal hydrolase L1 0.482 0.885 0.99
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease 0.100 None 0 0
Entrez Id: 7345
Gene Symbol: UCHL1
UCHL1 		ubiquitin C-terminal hydrolase L1 0.482 0.885 0.99
CUI: C0917801
Disease: Sleeplessness
Sleeplessness 		phenotype 0.100 None 0 0
Entrez Id: 7345
Gene Symbol: UCHL1
UCHL1 		ubiquitin C-terminal hydrolase L1 0.482 0.885 0.99
CUI: C1112256
Disease: Sensorimotor neuropathy
Sensorimotor neuropathy 		disease 0.100 None 0 0
Entrez Id: 7345
Gene Symbol: UCHL1
UCHL1 		ubiquitin C-terminal hydrolase L1 0.482 0.885 0.99
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		phenotype 0.100 None 0 0
Entrez Id: 7345
Gene Symbol: UCHL1
UCHL1 		ubiquitin C-terminal hydrolase L1 0.482 0.885 0.99
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 7345
Gene Symbol: UCHL1
UCHL1 		ubiquitin C-terminal hydrolase L1 0.482 0.885 0.99
CUI: C4552855
Disease: Agitation, CTCAE 5.0
Agitation, CTCAE 5.0 		phenotype 0.100 None 0 0
Entrez Id: 7345
Gene Symbol: UCHL1
UCHL1 		ubiquitin C-terminal hydrolase L1 0.482 0.885 0.99
CUI: C2364082
Disease: Sense of smell impaired
Sense of smell impaired 		phenotype 0.100 None 0 0
Entrez Id: 7345
Gene Symbol: UCHL1
UCHL1 		ubiquitin C-terminal hydrolase L1 0.482 0.885 0.99
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		phenotype 0.100 None 0 0
Entrez Id: 7345
Gene Symbol: UCHL1
UCHL1 		ubiquitin C-terminal hydrolase L1 0.482 0.885 0.99
CUI: C1963060
Disease: Agitation, CTCAE 3.0
Agitation, CTCAE 3.0 		phenotype 0.100 None 0 0
Entrez Id: 7345
Gene Symbol: UCHL1
UCHL1 		ubiquitin C-terminal hydrolase L1 0.482 0.885 0.99
CUI: C1843921
Disease: Postural instability
Postural instability 		phenotype 0.100 None 0 0
Entrez Id: 7345
Gene Symbol: UCHL1
UCHL1 		ubiquitin C-terminal hydrolase L1 0.482 0.885 0.99
CUI: C1839364
Disease: Progressive visual loss
Progressive visual loss 		phenotype 0.100 None 0 0