XYLT1, xylosyltransferase 1, 64131

N. diseases: 141; N. variants: 19
Disease: DESBUQUOIS DYSPLASIA 2 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777367
rs587777367
Entrez Id: 64131;102723692
Gene Symbol: XYLT1;LOC102723692
XYLT1;LOC102723692
CUI: C4014294
Disease:
DESBUQUOIS DYSPLASIA 2 		0.800 GeneticVariation UNIPROT Endoplasmic reticulum retention of xylosyltransferase 1 (XYLT1) mutants underlying Desbuquois dysplasia type II. 28462984 2017
dbSNP: rs587777367
rs587777367
Entrez Id: 64131;102723692
Gene Symbol: XYLT1;LOC102723692
XYLT1;LOC102723692
CUI: C4014294
Disease:
DESBUQUOIS DYSPLASIA 2 		0.800 GeneticVariation UNIPROT "The missing ""link"": an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation." 23982343 2014
dbSNP: rs587777367
rs587777367
Entrez Id: 64131;102723692
Gene Symbol: XYLT1;LOC102723692
XYLT1;LOC102723692
CUI: C4014294
Disease:
DESBUQUOIS DYSPLASIA 2 		0.800 GeneticVariation UNIPROT XYLT1 mutations in Desbuquois dysplasia type 2. 24581741 2014
dbSNP: rs587777367
rs587777367
Entrez Id: 64131;102723692
Gene Symbol: XYLT1;LOC102723692
XYLT1;LOC102723692
CUI: C4014294
Disease:
DESBUQUOIS DYSPLASIA 2 		A 0.800 CausalMutation CLINVAR