CHST3, carbohydrate sulfotransferase 3, 9469

N. diseases: 214; N. variants: 18
Disease: Spondyloepiphyseal dysplasia, Omani type ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908616
rs121908616
Entrez Id: 9469
Gene Symbol: CHST3
CHST3
CUI: C1837657
Disease:
Spondyloepiphyseal dysplasia, Omani type 		0.800 GeneticVariation UNIPROT Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis. 18513679 2008
dbSNP: rs121908617
rs121908617
Entrez Id: 9469
Gene Symbol: CHST3
CHST3
CUI: C1837657
Disease:
Spondyloepiphyseal dysplasia, Omani type 		0.800 GeneticVariation UNIPROT Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis. 18513679 2008
dbSNP: rs121908618
rs121908618
Entrez Id: 9469
Gene Symbol: CHST3
CHST3
CUI: C1837657
Disease:
Spondyloepiphyseal dysplasia, Omani type 		0.800 GeneticVariation UNIPROT Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis. 18513679 2008
dbSNP: rs28937593
rs28937593
Entrez Id: 9469
Gene Symbol: CHST3
CHST3
CUI: C1837657
Disease:
Spondyloepiphyseal dysplasia, Omani type 		0.800 GeneticVariation UNIPROT Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis. 18513679 2008
dbSNP: rs121908616
rs121908616
Entrez Id: 9469
Gene Symbol: CHST3
CHST3
CUI: C1837657
Disease:
Spondyloepiphyseal dysplasia, Omani type 		0.800 GeneticVariation UNIPROT Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement. 15215498 2004
dbSNP: rs121908617
rs121908617
Entrez Id: 9469
Gene Symbol: CHST3
CHST3
CUI: C1837657
Disease:
Spondyloepiphyseal dysplasia, Omani type 		0.800 GeneticVariation UNIPROT Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement. 15215498 2004
dbSNP: rs121908618
rs121908618
Entrez Id: 9469
Gene Symbol: CHST3
CHST3
CUI: C1837657
Disease:
Spondyloepiphyseal dysplasia, Omani type 		0.800 GeneticVariation UNIPROT Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement. 15215498 2004
dbSNP: rs28937593
rs28937593
Entrez Id: 9469
Gene Symbol: CHST3
CHST3
CUI: C1837657
Disease:
Spondyloepiphyseal dysplasia, Omani type 		0.800 GeneticVariation UNIPROT Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement. 15215498 2004
dbSNP: rs121908616
rs121908616
Entrez Id: 9469
Gene Symbol: CHST3
CHST3
CUI: C1837657
Disease:
Spondyloepiphyseal dysplasia, Omani type 		C 0.800 CausalMutation CLINVAR
dbSNP: rs121908617
rs121908617
Entrez Id: 9469
Gene Symbol: CHST3
CHST3
CUI: C1837657
Disease:
Spondyloepiphyseal dysplasia, Omani type 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121908618
rs121908618
Entrez Id: 9469
Gene Symbol: CHST3
CHST3
CUI: C1837657
Disease:
Spondyloepiphyseal dysplasia, Omani type 		C 0.800 CausalMutation CLINVAR
dbSNP: rs28937593
rs28937593
Entrez Id: 9469
Gene Symbol: CHST3
CHST3
CUI: C1837657
Disease:
Spondyloepiphyseal dysplasia, Omani type 		A 0.800 CausalMutation CLINVAR
dbSNP: rs121908620
rs121908620
Entrez Id: 9469
Gene Symbol: CHST3
CHST3
CUI: C1837657
Disease:
Spondyloepiphyseal dysplasia, Omani type 		0.710 GeneticVariation BEFREE Here we describe the identification of a mutation (857T > C predicting the substitution L286P) in CHST3 in a Turkish family and extend the clinical phenotype of SED-Omani type to include congenital joint dislocation, club feet, ventricular septal defect, deafness, metacarpal shortening and accessory carpal ossification centers. 18698629 2008
dbSNP: rs121908620
rs121908620
Entrez Id: 9469
Gene Symbol: CHST3
CHST3
CUI: C1837657
Disease:
Spondyloepiphyseal dysplasia, Omani type 		C 0.710 CausalMutation CLINVAR
dbSNP: rs121908619
rs121908619
Entrez Id: 9469
Gene Symbol: CHST3
CHST3
CUI: C1837657
Disease:
Spondyloepiphyseal dysplasia, Omani type 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1316347883
rs1316347883
Entrez Id: 9469
Gene Symbol: CHST3
CHST3
CUI: C1837657
Disease:
Spondyloepiphyseal dysplasia, Omani type 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1416783446
rs1416783446
Entrez Id: 9469
Gene Symbol: CHST3
CHST3
CUI: C1837657
Disease:
Spondyloepiphyseal dysplasia, Omani type 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1554817549
rs1554817549
Entrez Id: 9469
Gene Symbol: CHST3
CHST3
CUI: C1837657
Disease:
Spondyloepiphyseal dysplasia, Omani type 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs267606732
rs267606732
Entrez Id: 9469
Gene Symbol: CHST3
CHST3
CUI: C1837657
Disease:
Spondyloepiphyseal dysplasia, Omani type 		T 0.700 CausalMutation CLINVAR
dbSNP: rs267606733
rs267606733
Entrez Id: 9469
Gene Symbol: CHST3
CHST3
CUI: C1837657
Disease:
Spondyloepiphyseal dysplasia, Omani type 		T 0.700 CausalMutation CLINVAR
dbSNP: rs267606734
rs267606734
Entrez Id: 9469
Gene Symbol: CHST3
CHST3
CUI: C1837657
Disease:
Spondyloepiphyseal dysplasia, Omani type 		A 0.700 CausalMutation CLINVAR
dbSNP: rs267606735
rs267606735
Entrez Id: 9469
Gene Symbol: CHST3
CHST3
CUI: C1837657
Disease:
Spondyloepiphyseal dysplasia, Omani type 		T 0.700 CausalMutation CLINVAR
dbSNP: rs747171013
rs747171013
Entrez Id: 9469
Gene Symbol: CHST3
CHST3
CUI: C1837657
Disease:
Spondyloepiphyseal dysplasia, Omani type 		A 0.700 CausalMutation CLINVAR
dbSNP: rs769540174
rs769540174
Entrez Id: 9469
Gene Symbol: CHST3
CHST3
CUI: C1837657
Disease:
Spondyloepiphyseal dysplasia, Omani type 		CG 0.700 CausalMutation CLINVAR
dbSNP: rs771866012
rs771866012
Entrez Id: 9469
Gene Symbol: CHST3
CHST3
CUI: C1837657
Disease:
Spondyloepiphyseal dysplasia, Omani type 		T 0.700 CausalMutation CLINVAR