Disease: Spastic Paraplegia, Hereditary ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.030 GeneticVariation disease BEFREE Recently, eleven cases of hereditary spastic paraplegia with mutation in the coding region of B4GALNT1 were reported. 30521973 2019
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.030 GeneticVariation disease BEFREE Mutations in ST3GAL5 (coding GM3 synthase) were discovered as the basis for severe congenital infantile seizures, whereas mutations in B4GALNT1 (coding GM2/GD2 synthase) are the basis of hereditary spastic paraplegia accompanied by intellectual disability. 29747824 2018
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.030 GeneticVariation disease BEFREE Mutations in the gene B4GALNT1 cause Hereditary Spastic Paraplegia 26 (HSP26). 28536081 2017