Disease: Amyotrophic Lateral Sclerosis, Familial ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551993
Disease: Amyotrophic Lateral Sclerosis, Familial
Amyotrophic Lateral Sclerosis, Familial 		0.020 GeneticVariation disease BEFREE We have recently discovered that mutations proximal to the substrate binding site of glycosyltransferase 8 domain containing 1 (GLT8D1) are associated with familial amyotrophic lateral sclerosis (ALS). 31724708 2019
CUI: C4551993
Disease: Amyotrophic Lateral Sclerosis, Familial
Amyotrophic Lateral Sclerosis, Familial 		0.020 GeneticVariation disease BEFREE Mutations in the Glycosyltransferase Domain of GLT8D1 Are Associated with Familial Amyotrophic Lateral Sclerosis. 30811981 2019