Source: GENOMICS_ENGLAND

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 5 0 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 2 0 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 2 0 2009 2010
Entrez Id: 80208
Gene Symbol: SPG11
SPG11 		SPG11 vesicle trafficking associated, spatacsin 0.576 0.538 1.6E-39
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies 		disease 0.300 strong 1.000 1 0 2016 2016