SPTAN1, spectrin alpha, non-erythrocytic 1, 6709

N. diseases: 82; N. variants: 20
Disease: Autosomal Recessive Hereditary Spastic Paraplegia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751603
Disease: Autosomal Recessive Hereditary Spastic Paraplegia
Autosomal Recessive Hereditary Spastic Paraplegia 		0.010 GeneticVariation disease BEFREE SPTAN1 variants as a potential cause for autosomal recessive hereditary spastic paraplegia. 31515523 2019