Gene: B4GALNT1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2583
Gene Symbol: B4GALNT1
B4GALNT1 		0.030 GeneticVariation disease BEFREE Recently, eleven cases of hereditary spastic paraplegia with mutation in the coding region of B4GALNT1 were reported. 30521973 2019
Entrez Id: 2583
Gene Symbol: B4GALNT1
B4GALNT1 		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
Entrez Id: 2583
Gene Symbol: B4GALNT1
B4GALNT1 		0.030 GeneticVariation disease BEFREE Mutations in the gene B4GALNT1 cause Hereditary Spastic Paraplegia 26 (HSP26). 28536081 2017