XYLT1, xylosyltransferase 1, 64131

N. diseases: 141; N. variants: 19
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum 		0.630 Biomarker disease BEFREE Subsequent analyses reinforced these observations and indicated a diminished induction of the myofibroblast differentiation markers α-smooth muscle actin and xylosyltransferase-I as well as poor transforming growth factor-β1 responsiveness in PXE fibroblasts. 28882457 2017
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum 		0.630 AlteredExpression disease BEFREE Polymorphisms in the xylosyltransferase genes cause higher serum XT-I activity in patients with pseudoxanthoma elasticum (PXE) and are involved in a severe disease course. 16571645 2006
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum 		0.630 GeneticVariation disease UNIPROT Polymorphisms in the xylosyltransferase genes cause higher serum XT-I activity in patients with pseudoxanthoma elasticum (PXE) and are involved in a severe disease course. 16571645 2006
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum 		0.630 Biomarker disease LHGDN Our data show that the altered proteoglycan biosynthesis in PXE patients is closely related to an increased XT-I activity in blood. 16133423 2005
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum 		0.630 AlteredExpression disease BEFREE Our data show that the altered proteoglycan biosynthesis in PXE patients is closely related to an increased XT-I activity in blood. 16133423 2005
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum 		0.630 Biomarker disease GENOMICS_ENGLAND
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum 		0.630 Biomarker disease CTD_human
CUI: C4014294
Disease: DESBUQUOIS DYSPLASIA 2
DESBUQUOIS DYSPLASIA 2 		0.600 Biomarker disease GENOMICS_ENGLAND GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome. 30554721 2019
CUI: C4014294
Disease: DESBUQUOIS DYSPLASIA 2
DESBUQUOIS DYSPLASIA 2 		0.600 GeneticVariation disease UNIPROT Endoplasmic reticulum retention of xylosyltransferase 1 (XYLT1) mutants underlying Desbuquois dysplasia type II. 28462984 2017
CUI: C4014294
Disease: DESBUQUOIS DYSPLASIA 2
DESBUQUOIS DYSPLASIA 2 		0.600 GeneticVariation disease UNIPROT XYLT1 mutations in Desbuquois dysplasia type 2. 24581741 2014
CUI: C4014294
Disease: DESBUQUOIS DYSPLASIA 2
DESBUQUOIS DYSPLASIA 2 		0.600 Biomarker disease GENOMICS_ENGLAND XYLT1 mutations in Desbuquois dysplasia type 2. 24581741 2014
CUI: C4014294
Disease: DESBUQUOIS DYSPLASIA 2
DESBUQUOIS DYSPLASIA 2 		0.600 GeneticVariation disease UNIPROT "The missing ""link"": an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation." 23982343 2014
CUI: C4014294
Disease: DESBUQUOIS DYSPLASIA 2
DESBUQUOIS DYSPLASIA 2 		0.600 CausalMutation disease CLINVAR
CUI: C4014294
Disease: DESBUQUOIS DYSPLASIA 2
DESBUQUOIS DYSPLASIA 2 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C0432242
Disease: Desbuquois syndrome
Desbuquois syndrome 		0.560 GeneticVariation disease BEFREE Two genes for DBQD (CANT1 encoding calcium-activated nucleotidase-1 and XYLT1 encoding xylosyltransferase-1) have been reported. 30847897 2019
CUI: C0432242
Disease: Desbuquois syndrome
Desbuquois syndrome 		0.560 GeneticVariation disease BEFREE Biallelic variants in XYLT1 and XYLT2, encoding xylosyltransferases, are associated with Desbuquois dysplasia type 2 and spondylo-ocular syndrome, respectively. 31438591 2019
CUI: C0432242
Disease: Desbuquois syndrome
Desbuquois syndrome 		0.560 Biomarker disease BEFREE DBQD is classified into two types based on the presence (DBQD1) or absence (DBQD2) of characteristic hand abnormalities. 27881841 2017
CUI: C0432242
Disease: Desbuquois syndrome
Desbuquois syndrome 		0.560 GeneticVariation disease BEFREE In addition, a number of Desbuquois dysplasia type II patients have been attributed to mutations in xylosyltransferase 1, encoded by the XYLT1 gene, an enzyme that catalyzes the transfer of UDP-xylose (a marker of cartilage destruction) to serine residues of an acceptor protein, essential for the biosynthesis of proteoglycans. 28462984 2017
CUI: C0432242
Disease: Desbuquois syndrome
Desbuquois syndrome 		0.560 GeneticVariation disease BEFREE Exome sequencing reveals two novel compound heterozygous XYLT1 mutations in a Polish patient with Desbuquois dysplasia type 2 and growth hormone deficiency. 27030147 2016
CUI: C0432242
Disease: Desbuquois syndrome
Desbuquois syndrome 		0.560 GermlineCausalMutation disease ORPHANET Our findings of XYLT1 mutations in DBQD type 2 further support a common physiological basis involving PG synthesis in the multiple dislocation group of disorders. 24581741 2014
CUI: C0432242
Disease: Desbuquois syndrome
Desbuquois syndrome 		0.560 GeneticVariation disease BEFREE Our findings of XYLT1 mutations in DBQD type 2 further support a common physiological basis involving PG synthesis in the multiple dislocation group of disorders. 24581741 2014
CUI: C0432242
Disease: Desbuquois syndrome
Desbuquois syndrome 		0.560 Biomarker disease CTD_human
CUI: C4750849
Disease: XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation
XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation 		0.300 GermlineCausalMutation disease ORPHANET "The missing ""link"": an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation." 23982343 2014
CUI: C0013146
Disease: Drug abuse
Drug abuse 		0.300 Biomarker group CTD_human Genome wide association for addiction: replicated results and comparisons of two analytic approaches. 20098672 2010
CUI: C0013170
Disease: Drug habituation
Drug habituation 		0.300 Biomarker phenotype CTD_human Genome wide association for addiction: replicated results and comparisons of two analytic approaches. 20098672 2010