Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852520
rs137852520
L1CAM
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		T 0.700 CausalMutation CLINVAR Disease-associated mutations in L1 CAM interfere with ligand interactions and cell-surface expression. 11772994

2002
dbSNP: rs137852520
rs137852520
L1CAM
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		T 0.700 CausalMutation CLINVAR Pathological missense mutations of neural cell adhesion molecule L1 affect homophilic and heterophilic binding activities. 10469653

1999
dbSNP: rs137852520
rs137852520
L1CAM
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		T 0.700 CausalMutation CLINVAR X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene. 7920659

1994