rs61755320, SPG7

N. diseases: 41
Disease: Paraparesis, Spastic ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Paraparesis, Spastic
CUI: C0037771
Disease: Paraparesis, Spastic
0.710 GeneticVariation BEFREE Our results confirm the pathogenicity of Ala510Val, which was the most frequent mutation in our series (65%) and segregated at the homozygous state with spastic paraparesis in a large family with autosomal recessive inheritance. 23065789 2012
Paraparesis, Spastic
CUI: C0037771
Disease: Paraparesis, Spastic
0.710 CausalMutation CLINVAR