Source: CLINVAR

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: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 1.000 1 2 2009 2009