XYLT2, xylosyltransferase 2, 64132

N. diseases: 138; N. variants: 7
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum 		0.520 GeneticVariation disease UNIPROT Here we show for the first time that variations in the XYLT-II gene are genetic co-factors in the severity of PXE. 16571645 2006
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum 		0.520 GeneticVariation disease BEFREE Here we show for the first time that variations in the XYLT-II gene are genetic co-factors in the severity of PXE. 16571645 2006
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum 		0.520 GeneticVariation disease BEFREE Furthermore, sequence variations in the XT-I and XT-II coding genes were identified as risk factors for diabetic nephropathy, osteoarthritis or pseudoxanthoma elasticum. 17437056 2007
CUI: C4225412
Disease: Spondylo-ocular syndrome
Spondylo-ocular syndrome 		0.450 GeneticVariation disease BEFREE We report on 4 patients, 2 unrelated patients and 2 siblings, with spondyloocular syndrome and novel mutations in XYLT2. 26987875 2016
CUI: C4225412
Disease: Spondylo-ocular syndrome
Spondylo-ocular syndrome 		0.450 GeneticVariation disease CLINVAR
CUI: C4225412
Disease: Spondylo-ocular syndrome
Spondylo-ocular syndrome 		0.450 GeneticVariation disease BEFREE Two novel mutations in XYLT2 cause spondyloocular syndrome. 28884924 2017
CUI: C4225412
Disease: Spondylo-ocular syndrome
Spondylo-ocular syndrome 		0.450 GeneticVariation disease BEFREE Our findings extend the body of evidence that SOS is caused by homozygous variants in the XYLT2 gene. 29136277 2018
CUI: C4225412
Disease: Spondylo-ocular syndrome
Spondylo-ocular syndrome 		0.450 GeneticVariation disease BEFREE Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defects. 26027496 2015
CUI: C0029453
Disease: Osteopenia
Osteopenia 		0.100 GeneticVariation disease CLINVAR
CUI: C0035305
Disease: Retinal Detachment
Retinal Detachment 		0.100 GeneticVariation disease CLINVAR
CUI: C0086543
Disease: Cataract
Cataract 		0.100 GeneticVariation disease CLINVAR
CUI: C0262431
Disease: Compression fracture of vertebral column
Compression fracture of vertebral column 		0.100 GeneticVariation phenotype CLINVAR
CUI: C1834124
Disease: Shield chest
Shield chest 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0019156
Disease: Hepatic Veno-Occlusive Disease
Hepatic Veno-Occlusive Disease 		0.050 GeneticVariation disease BEFREE Veno-occlusive disease, also known as sinusoidal obstruction syndrome (VOD/SOS), is a potentially life-threatening complication of allogeneic or autologous hematopoietic stem cell transplantation (HSCT) most commonly associated with high-intensity chemotherapies. 30797942 2019
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		0.040 GeneticVariation disease BEFREE Furthermore, sequence variations in the XT-I and XT-II coding genes were identified as risk factors for diabetic nephropathy, osteoarthritis or pseudoxanthoma elasticum. 17437056 2007
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		0.040 GeneticVariation disease BEFREE Genotyping of four genetic variations in the genes XYLT-I and XYLT-II was performed in 912 type 1 diabetic patients (453 with and 459 without diabetic nephropathy) using restriction fragment-length polymorphism. 17003309 2006
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		0.040 GeneticVariation disease BEFREE The haplotype analysis of 6 XYLT2 polymorphisms revealed one haplotype (GATTCG) to be significantly less frequent among type 1 patients with diabetic nephropathy (p=0.002, OR=0.13, 95% CI=0.03-0.59). 18789912 2008
CUI: C0038525
Disease: Subarachnoid Hemorrhage
Subarachnoid Hemorrhage 		0.040 GeneticVariation disease BEFREE This was a retrospective analysis of anonymized data from the Swiss SOS registry (Swiss Study on Aneurysmal Subarachnoid Hemorrhage; 2009-2014). 31025178 2019
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.020 GeneticVariation disease BEFREE Expression of macrophage markers in adipose tissue was analyzed by DNA microarrays in the SOS Sib Pair study and in patients with type 2 diabetes and a BMI-matched healthy control group. 23512687 2013
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.020 GeneticVariation disease BEFREE An increased risk for T2D conferred by the 148M allele was found in the SOS study (O.R.1.09, 95% C.I. 22724004 2012
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.020 GeneticVariation disease BEFREE In this study, we examined three NS mutations in different domains of SOS to clarify the abnormality in its translocation to the plasma membrane, where SOS activates RAS. 29074966 2017
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.020 GeneticVariation disease BEFREE The more frequent molecular defects observed in NS were mutations in the PTPN11 and SOS genes. 23756559 2013
CUI: C0028754
Disease: Obesity
Obesity 		0.020 GeneticVariation disease BEFREE The 148M allele was no longer associated with insulin resistance or T2D after bariatric surgery in the SOS study and no association with the 148M allele was observed in the less obese (BMI<35) individuals in the Go-DARTS study (P for interaction  = 0.002). 22724004 2012
CUI: C0003872
Disease: Arthritis, Psoriatic
Arthritis, Psoriatic 		0.010 GeneticVariation disease BEFREE This report includes 1,991 subjects who underwent bariatric surgery and 2,018 controls with obesity from the SOS study; none of them had psoriasis or PsA at baseline. 29178583 2017
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.010 GeneticVariation disease BEFREE Identification of a xylosyltransferase II gene haplotype marker for diabetic nephropathy in type 1 diabetes. 18789912 2008