Disease: Muscular Dystrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.120 GeneticVariation disease BEFREE B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathies. 29273094 2017
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.120 GeneticVariation disease BEFREE The nonsense mutation XM_001491545 c.1423C>T corresponding to XP_001491595 p.Gln475* was identical to a B3GALNT2 mutation identified in a human case of muscular dystrophy-dystroglycanopathy with hydrocephalus. 26452345 2015
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.120 Biomarker disease HPO