Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2583
Gene Symbol: B4GALNT1
B4GALNT1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Novel B4GALNT1 mutations in a complicated form of hereditary spastic paraplegia. 24283893

2014
Entrez Id: 2583
Gene Symbol: B4GALNT1
B4GALNT1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis. 24103911

2013
Entrez Id: 2583
Gene Symbol: B4GALNT1
B4GALNT1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia. 23746551

2013