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

N. diseases: 79; N. variants: 9
Disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917817
rs121917817
Entrez Id: 11285
Gene Symbol: B4GALT7
B4GALT7
CUI: C4552003
Disease:
EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1 		0.800 GeneticVariation UNIPROT Molecular basis for the progeroid variant of Ehlers-Danlos syndrome. Identification and characterization of two mutations in galactosyltransferase I gene. 10506123 1999
dbSNP: rs121917818
rs121917818
Entrez Id: 11285
Gene Symbol: B4GALT7
B4GALT7
CUI: C4552003
Disease:
EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1 		0.800 GeneticVariation UNIPROT Molecular basis for the progeroid variant of Ehlers-Danlos syndrome. Identification and characterization of two mutations in galactosyltransferase I gene. 10506123 1999
dbSNP: rs121917817
rs121917817
Entrez Id: 11285
Gene Symbol: B4GALT7
B4GALT7
CUI: C4552003
Disease:
EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1 		A 0.800 CausalMutation CLINVAR
dbSNP: rs121917818
rs121917818
Entrez Id: 11285
Gene Symbol: B4GALT7
B4GALT7
CUI: C4552003
Disease:
EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1 		C 0.800 CausalMutation CLINVAR
dbSNP: rs187063864
rs187063864
Entrez Id: 11285
Gene Symbol: B4GALT7
B4GALT7
CUI: C4552003
Disease:
EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1 		T 0.700 CausalMutation CLINVAR
dbSNP: rs28937869
rs28937869
Entrez Id: 11285
Gene Symbol: B4GALT7
B4GALT7
CUI: C4552003
Disease:
EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1 		T 0.700 CausalMutation CLINVAR
dbSNP: rs375845310
rs375845310
Entrez Id: 11285
Gene Symbol: B4GALT7
B4GALT7
CUI: C4552003
Disease:
EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1 		C 0.700 CausalMutation CLINVAR
dbSNP: rs753594601
rs753594601
Entrez Id: 11285
Gene Symbol: B4GALT7
B4GALT7
CUI: C4552003
Disease:
EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1 		A 0.700 CausalMutation CLINVAR
dbSNP: rs879255634
rs879255634
Entrez Id: 11285
Gene Symbol: B4GALT7
B4GALT7
CUI: C4552003
Disease:
EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1 		GC 0.700 CausalMutation CLINVAR