rs28937869, B4GALT7

N. diseases: 4
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Lethal skeletal dysplasia
CUI: C4021626
Disease: Lethal skeletal dysplasia
0.700 CausalMutation CLINVAR
EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1
CUI: C4552003
Disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1
0.700 CausalMutation CLINVAR
MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS
CUI: C3278404
Disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS
0.700 GeneticVariation CLINVAR
Ehlers-Danlos Syndrome
CUI: C0013720
Disease: Ehlers-Danlos Syndrome
0.020 GeneticVariation BEFREE Three mutations of the B4GALT7 gene [encoding β1,4-GalT7 (β1,4-galactosyltransferase 7)], corresponding to A186D, L206P and R270C, have been identified in patients with the progeroid form of the Ehlers-Danlos syndrome and are described as being associated with the reduction or loss of β1,4-GalT7 activity. 20809901 2010
Ehlers-Danlos Syndrome
CUI: C0013720
Disease: Ehlers-Danlos Syndrome
0.020 GeneticVariation BEFREE We have analyzed structural alterations of HS and their functional consequences in human beta4GalT-7 Arg270Cys mutant EDS and control fibroblasts. 18158310 2008