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: 80208
Gene Symbol: SPG11
SPG11 		SPG11 vesicle trafficking associated, spatacsin 0.576 0.538 1.6E-39
CUI: C1858479
Disease: Spastic paraplegia 11, autosomal recessive
Spastic paraplegia 11, autosomal recessive 		disease 0.960 None 1.000 25 132 2004 2019
Entrez Id: 80208
Gene Symbol: SPG11
SPG11 		SPG11 vesicle trafficking associated, spatacsin 0.576 0.538 1.6E-39
CUI: C4225253
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X 		disease 0.700 strong 1.000 1 8 2007 2016
Entrez Id: 80208
Gene Symbol: SPG11
SPG11 		SPG11 vesicle trafficking associated, spatacsin 0.576 0.538 1.6E-39
CUI: C1865864
Disease: AMYOTROPHIC LATERAL SCLEROSIS 5
AMYOTROPHIC LATERAL SCLEROSIS 5 		disease 0.600 strong 1.000 0 8 2009 2010
Entrez Id: 80208
Gene Symbol: SPG11
SPG11 		SPG11 vesicle trafficking associated, spatacsin 0.576 0.538 1.6E-39
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		disease 0.400 None 1.000 1 2 2004 2019
Entrez Id: 80208
Gene Symbol: SPG11
SPG11 		SPG11 vesicle trafficking associated, spatacsin 0.576 0.538 1.6E-39
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		disease 0.200 None 1.000 1 2 2004 2019
Entrez Id: 80208
Gene Symbol: SPG11
SPG11 		SPG11 vesicle trafficking associated, spatacsin 0.576 0.538 1.6E-39
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		disease 0.180 None 1.000 0 0 2007 2019
Entrez Id: 80208
Gene Symbol: SPG11
SPG11 		SPG11 vesicle trafficking associated, spatacsin 0.576 0.538 1.6E-39
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		disease 0.150 None 1.000 0 0 1999 2019
Entrez Id: 80208
Gene Symbol: SPG11
SPG11 		SPG11 vesicle trafficking associated, spatacsin 0.576 0.538 1.6E-39
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		phenotype 0.120 None 1.000 1 4 2008 2013
Entrez Id: 80208
Gene Symbol: SPG11
SPG11 		SPG11 vesicle trafficking associated, spatacsin 0.576 0.538 1.6E-39
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.120 None 1.000 0 0 2008 2016
Entrez Id: 80208
Gene Symbol: SPG11
SPG11 		SPG11 vesicle trafficking associated, spatacsin 0.576 0.538 1.6E-39
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		disease 0.120 None 1.000 0 0 2014 2016
Entrez Id: 80208
Gene Symbol: SPG11
SPG11 		SPG11 vesicle trafficking associated, spatacsin 0.576 0.538 1.6E-39
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		phenotype 0.110 None 1.000 1 4 2009 2010
Entrez Id: 80208
Gene Symbol: SPG11
SPG11 		SPG11 vesicle trafficking associated, spatacsin 0.576 0.538 1.6E-39
CUI: C0747251
Disease: Progressive spastic paraparesis
Progressive spastic paraparesis 		phenotype 0.110 None 1.000 1 2 2006 2009
Entrez Id: 80208
Gene Symbol: SPG11
SPG11 		SPG11 vesicle trafficking associated, spatacsin 0.576 0.538 1.6E-39
CUI: C1263857
Disease: Peripheral axonal neuropathy
Peripheral axonal neuropathy 		disease 0.110 None 1.000 0 0 2016 2016
Entrez Id: 80208
Gene Symbol: SPG11
SPG11 		SPG11 vesicle trafficking associated, spatacsin 0.576 0.538 1.6E-39
CUI: C0004134
Disease: Ataxia
Ataxia 		phenotype 0.110 None 1.000 0 0 2016 2016
Entrez Id: 80208
Gene Symbol: SPG11
SPG11 		SPG11 vesicle trafficking associated, spatacsin 0.576 0.538 1.6E-39
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		group 0.110 None 1.000 0 0 2016 2016
Entrez Id: 80208
Gene Symbol: SPG11
SPG11 		SPG11 vesicle trafficking associated, spatacsin 0.576 0.538 1.6E-39
CUI: C0239842
Disease: Tremor of hands
Tremor of hands 		phenotype 0.100 None 1.000 1 2 2009 2009
Entrez Id: 80208
Gene Symbol: SPG11
SPG11 		SPG11 vesicle trafficking associated, spatacsin 0.576 0.538 1.6E-39
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		disease 0.100 None 1.000 1 2 2009 2009
Entrez Id: 80208
Gene Symbol: SPG11
SPG11 		SPG11 vesicle trafficking associated, spatacsin 0.576 0.538 1.6E-39
CUI: C1271100
Disease: Lower limb spasticity
Lower limb spasticity 		phenotype 0.100 None 1.000 1 3 2009 2009
Entrez Id: 80208
Gene Symbol: SPG11
SPG11 		SPG11 vesicle trafficking associated, spatacsin 0.576 0.538 1.6E-39
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 1.000 1 2 2009 2009
Entrez Id: 80208
Gene Symbol: SPG11
SPG11 		SPG11 vesicle trafficking associated, spatacsin 0.576 0.538 1.6E-39
CUI: C0948163
Disease: Leukoaraiosis
Leukoaraiosis 		phenotype 0.100 None 1.000 1 2 2009 2009
Entrez Id: 80208
Gene Symbol: SPG11
SPG11 		SPG11 vesicle trafficking associated, spatacsin 0.576 0.538 1.6E-39
CUI: C0042024
Disease: Urinary Incontinence
Urinary Incontinence 		phenotype 0.100 None 1.000 1 2 2009 2009
Entrez Id: 80208
Gene Symbol: SPG11
SPG11 		SPG11 vesicle trafficking associated, spatacsin 0.576 0.538 1.6E-39
CUI: C1849097
Disease: Loss of ability to walk
Loss of ability to walk 		phenotype 0.100 None 1.000 1 2 2009 2009
Entrez Id: 80208
Gene Symbol: SPG11
SPG11 		SPG11 vesicle trafficking associated, spatacsin 0.576 0.538 1.6E-39
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		disease 0.100 None 1.000 1 2 2009 2009
Entrez Id: 80208
Gene Symbol: SPG11
SPG11 		SPG11 vesicle trafficking associated, spatacsin 0.576 0.538 1.6E-39
CUI: C0015732
Disease: Fecal Incontinence
Fecal Incontinence 		disease 0.100 None 1.000 1 2 2009 2009
Entrez Id: 80208
Gene Symbol: SPG11
SPG11 		SPG11 vesicle trafficking associated, spatacsin 0.576 0.538 1.6E-39
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
Melanocortin 4 Receptor Deficiency 		phenotype 0.100 None 1.000 1 2 2009 2009