B4GALT7, beta-1,4-galactosyltransferase 7, 11285

N. diseases: 79; N. variants: 9
Disease: Lethal skeletal dysplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4021626
Disease: Lethal skeletal dysplasia
Lethal skeletal dysplasia 		0.110 Biomarker disease BEFREE These findings expand the phenotype of B4GALT7-related linkeropathies to include lethal skeletal dysplasia due to more severe loss of function. 31278392 2019
CUI: C4021626
Disease: Lethal skeletal dysplasia
Lethal skeletal dysplasia 		0.110 CausalMutation disease CLINVAR