Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 64131
Gene Symbol: XYLT1
XYLT1 		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
Entrez Id: 64131
Gene Symbol: XYLT1
XYLT1 		0.600 GeneticVariation disease UNIPROT Endoplasmic reticulum retention of xylosyltransferase 1 (XYLT1) mutants underlying Desbuquois dysplasia type II. 28462984 2017
Entrez Id: 64131
Gene Symbol: XYLT1
XYLT1 		0.600 GeneticVariation disease UNIPROT XYLT1 mutations in Desbuquois dysplasia type 2. 24581741 2014
Entrez Id: 64131
Gene Symbol: XYLT1
XYLT1 		0.600 Biomarker disease GENOMICS_ENGLAND XYLT1 mutations in Desbuquois dysplasia type 2. 24581741 2014
Entrez Id: 64131
Gene Symbol: XYLT1
XYLT1 		0.600 GeneticVariation disease UNIPROT "The missing ""link"": an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation." 23982343 2014
Entrez Id: 64131
Gene Symbol: XYLT1
XYLT1 		0.600 CausalMutation disease CLINVAR
Entrez Id: 64131
Gene Symbol: XYLT1
XYLT1 		0.600 Biomarker disease GENOMICS_ENGLAND