Source: INFERRED

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: 9907
Gene Symbol: AP5Z1
AP5Z1 		adaptor related protein complex 5 subunit zeta 1 0.700 0.346 7.3E-31
CUI: C3150901
Disease: SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE 		disease 0.700 None 1.000 1 9 2010 2016
Entrez Id: 9907
Gene Symbol: AP5Z1
AP5Z1 		adaptor related protein complex 5 subunit zeta 1 0.700 0.346 7.3E-31
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		disease 0.110 None 1.000 0 0 2015 2015
Entrez Id: 9907
Gene Symbol: AP5Z1
AP5Z1 		adaptor related protein complex 5 subunit zeta 1 0.700 0.346 7.3E-31
CUI: C0004134
Disease: Ataxia
Ataxia 		phenotype 0.100 None 0 0
Entrez Id: 9907
Gene Symbol: AP5Z1
AP5Z1 		adaptor related protein complex 5 subunit zeta 1 0.700 0.346 7.3E-31
CUI: C1271100
Disease: Lower limb spasticity
Lower limb spasticity 		phenotype 0.100 None 0 0
Entrez Id: 9907
Gene Symbol: AP5Z1
AP5Z1 		adaptor related protein complex 5 subunit zeta 1 0.700 0.346 7.3E-31
CUI: C1836296
Disease: Muscle Weakness Lower Limb
Muscle Weakness Lower Limb 		phenotype 0.100 None 0 0
Entrez Id: 9907
Gene Symbol: AP5Z1
AP5Z1 		adaptor related protein complex 5 subunit zeta 1 0.700 0.346 7.3E-31
CUI: C1843663
Disease: Urinary bladder sphincter dysfunction
Urinary bladder sphincter dysfunction 		phenotype 0.100 None 0 0
Entrez Id: 9907
Gene Symbol: AP5Z1
AP5Z1 		adaptor related protein complex 5 subunit zeta 1 0.700 0.346 7.3E-31
CUI: C1852464
Disease: Abnormality of the cervical spine
Abnormality of the cervical spine 		phenotype 0.100 None 0 0
Entrez Id: 9907
Gene Symbol: AP5Z1
AP5Z1 		adaptor related protein complex 5 subunit zeta 1 0.700 0.346 7.3E-31
CUI: C1855483
Disease: Progressive spastic paraplegia
Progressive spastic paraplegia 		phenotype 0.100 None 0 0
Entrez Id: 9907
Gene Symbol: AP5Z1
AP5Z1 		adaptor related protein complex 5 subunit zeta 1 0.700 0.346 7.3E-31
CUI: C1962966
Disease: Retinopathy, CTCAE
Retinopathy, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 9907
Gene Symbol: AP5Z1
AP5Z1 		adaptor related protein complex 5 subunit zeta 1 0.700 0.346 7.3E-31
CUI: C2673431
Disease: Abnormality of the periventricular white matter
Abnormality of the periventricular white matter 		disease 0.100 None 0 0
Entrez Id: 9907
Gene Symbol: AP5Z1
AP5Z1 		adaptor related protein complex 5 subunit zeta 1 0.700 0.346 7.3E-31
CUI: C2938912
Disease: Hyperintensity of cerebral white matter on MRI
Hyperintensity of cerebral white matter on MRI 		phenotype 0.100 None 0 0
Entrez Id: 9907
Gene Symbol: AP5Z1
AP5Z1 		adaptor related protein complex 5 subunit zeta 1 0.700 0.346 7.3E-31
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.100 None 0 0
Entrez Id: 9907
Gene Symbol: AP5Z1
AP5Z1 		adaptor related protein complex 5 subunit zeta 1 0.700 0.346 7.3E-31
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		phenotype 0.100 None 0 0
Entrez Id: 9907
Gene Symbol: AP5Z1
AP5Z1 		adaptor related protein complex 5 subunit zeta 1 0.700 0.346 7.3E-31
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 9907
Gene Symbol: AP5Z1
AP5Z1 		adaptor related protein complex 5 subunit zeta 1 0.700 0.346 7.3E-31
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		disease 0.100 None 0 0
Entrez Id: 9907
Gene Symbol: AP5Z1
AP5Z1 		adaptor related protein complex 5 subunit zeta 1 0.700 0.346 7.3E-31
CUI: C0027066
Disease: Myoclonus
Myoclonus 		phenotype 0.100 None 0 0
Entrez Id: 9907
Gene Symbol: AP5Z1
AP5Z1 		adaptor related protein complex 5 subunit zeta 1 0.700 0.346 7.3E-31
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		group 0.100 None 0 0
Entrez Id: 9907
Gene Symbol: AP5Z1
AP5Z1 		adaptor related protein complex 5 subunit zeta 1 0.700 0.346 7.3E-31
CUI: C0042024
Disease: Urinary Incontinence
Urinary Incontinence 		phenotype 0.100 None 0 0
Entrez Id: 9907
Gene Symbol: AP5Z1
AP5Z1 		adaptor related protein complex 5 subunit zeta 1 0.700 0.346 7.3E-31
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		phenotype 0.100 None 0 0
Entrez Id: 9907
Gene Symbol: AP5Z1
AP5Z1 		adaptor related protein complex 5 subunit zeta 1 0.700 0.346 7.3E-31
CUI: C0231687
Disease: Spastic gait
Spastic gait 		phenotype 0.100 None 0 0
Entrez Id: 9907
Gene Symbol: AP5Z1
AP5Z1 		adaptor related protein complex 5 subunit zeta 1 0.700 0.346 7.3E-31
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria 		phenotype 0.100 None 0 0
Entrez Id: 9907
Gene Symbol: AP5Z1
AP5Z1 		adaptor related protein complex 5 subunit zeta 1 0.700 0.346 7.3E-31
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		phenotype 0.100 None 0 0
Entrez Id: 9907
Gene Symbol: AP5Z1
AP5Z1 		adaptor related protein complex 5 subunit zeta 1 0.700 0.346 7.3E-31
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		phenotype 0.100 None 0 0
Entrez Id: 9907
Gene Symbol: AP5Z1
AP5Z1 		adaptor related protein complex 5 subunit zeta 1 0.700 0.346 7.3E-31
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		group 0.100 None 0 0
Entrez Id: 9907
Gene Symbol: AP5Z1
AP5Z1 		adaptor related protein complex 5 subunit zeta 1 0.700 0.346 7.3E-31
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		disease 0.100 None 0 0