Gene: B4GALNT1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs745744124
rs745744124
B4GALNT1
GC 0.700 CausalMutation CLINVAR Novel B4GALNT1 mutations in a complicated form of hereditary spastic paraplegia. 24283893

2014
dbSNP: rs745744124
rs745744124
B4GALNT1
GC 0.700 CausalMutation CLINVAR Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia. 23746551

2013
dbSNP: rs745744124
rs745744124
B4GALNT1
GC 0.700 CausalMutation CLINVAR Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis. 24103911

2013