Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 148789
Gene Symbol: B3GALNT2
B3GALNT2
0.600 CausalMutation disease CLINVAR B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathies. 29273094 2017
Entrez Id: 148789
Gene Symbol: B3GALNT2
B3GALNT2
0.600 CausalMutation disease CLINVAR Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan. 23453667 2013
Entrez Id: 148789
Gene Symbol: B3GALNT2
B3GALNT2
0.600 Biomarker disease GENOMICS_ENGLAND Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan. 23453667 2013
Entrez Id: 148789
Gene Symbol: B3GALNT2
B3GALNT2
0.600 GeneticVariation disease CLINVAR Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan. 23453667 2013
Entrez Id: 148789
Gene Symbol: B3GALNT2
B3GALNT2
0.600 GeneticVariation disease UNIPROT Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan. 23453667 2013
Entrez Id: 6905
Gene Symbol: TBCE
TBCE
0.100 CausalMutation disease CLINVAR