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 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 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 Biomarker disease BEFREE Intrafamilial variability of XYLT2-related spondyloocular syndrome. 30496831 2019
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: C0029456
Disease: Osteoporosis
Osteoporosis 		0.110 Biomarker disease BEFREE In conclusion, the present study suggests that PvuII and XbaI polymorphims of the ER-alpha gene, age, years since menopause and educational level are associated with bone density, as assessed by calcaneal SOS, and osteoporosis in postmenopausal Vietnamese women. 16972020 2006
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: C0019156
Disease: Hepatic Veno-Occlusive Disease
Hepatic Veno-Occlusive Disease 		0.050 Biomarker disease BEFREE This mono-institutional observational study was conducted to determine incidence, severity, risk factors, and outcome of sinusoidal obstruction syndrome/veno-occlusive disease (SOS/VOD) in high-risk Ewing sarcoma (ES) patients treated with intravenous busulfan and melphalan (BU-MEL) followed by autologous stem cell transplantation (ASCT). 29335623 2018
CUI: C0019156
Disease: Hepatic Veno-Occlusive Disease
Hepatic Veno-Occlusive Disease 		0.050 AlteredExpression disease BEFREE ADCs deliver a toxic moiety into antigen-expressing tumor cells, but may also injure hepatic sinusoids (sinusoidal obstruction syndrome; SOS). 30120894 2019
CUI: C0019156
Disease: Hepatic Veno-Occlusive Disease
Hepatic Veno-Occlusive Disease 		0.050 Biomarker disease BEFREE Liver biopsies at ages 5 and 9 months were consistent with hepatic veno-occlusive disease or hVOD (also known as sinusoidal obstruction syndrome or SOS) and broncho-alveolar lavage detected Pneumocystis jiroveci. 22982295 2012
CUI: C0019156
Disease: Hepatic Veno-Occlusive Disease
Hepatic Veno-Occlusive Disease 		0.050 Biomarker disease BEFREE Traditional severity criteria of sinusoidal obstruction syndrome/veno-occlusive disease (SOS/VOD) were determined retrospectively but found inappropriate for therapeutic decisions. 30809031 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: C0027651
Disease: Neoplasms
Neoplasms 		0.040 Biomarker group BEFREE In addition, the data from Xylt2 knock-out mice and mice with liver neoplasia show that liver is a significant source of serum XylT2 activity. 19389916 2009
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.040 Biomarker group BEFREE The theorem is that cancer metastasis can either be blunt by opponent bacterial biofilm infection or serve as model vectors for delivering therapeutic proteins to tumors or generation of the new phenotypes during the SOS reaction incite by anticancer drugs. 28236853 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.040 Biomarker group BEFREE The assessment of SPA growth in nude mice indicated an absence of tumour growth in the SPA-XT-II group (in which the XT-II gene was silenced), whereas SPA growth was observed in the other two groups (in which the XT-II gene was not silenced), and the tumour tissue was positive for the human S-100 protein, α-SMA and CK8&18. 27732748 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.040 Biomarker group BEFREE These observations underscore the essential role of Sos proteins in cellular proliferation and migration and support the consideration of these RasGEFs as potential biomarkers/therapy targets in Ras-driven epidermal tumors. 29844066 2018
CUI: C0038525
Disease: Subarachnoid Hemorrhage
Subarachnoid Hemorrhage 		0.040 Biomarker disease BEFREE Retrospective analysis of prospective data from a nationwide multicenter registry on all aneurysmal subarachnoid hemorrhage cases admitted to a tertiary neurosurgical department in Switzerland (Swiss SOS [Swiss Study on Aneurysmal Subarachnoid Hemorrhage]; 2009-2015). 29335333 2018
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: C0038525
Disease: Subarachnoid Hemorrhage
Subarachnoid Hemorrhage 		0.040 Biomarker disease BEFREE The Barrow Neurological Institute Grading Scale as a Predictor for Delayed Cerebral Ischemia and Outcome After Aneurysmal Subarachnoid Hemorrhage: Data From a Nationwide Patient Registry (Swiss SOS). 29351673 2018
CUI: C0038525
Disease: Subarachnoid Hemorrhage
Subarachnoid Hemorrhage 		0.040 Biomarker disease BEFREE This is a retrospective analysis of the Swiss SOS registry for patients with aneurysmal subarachnoid hemorrhage. 30680461 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 Biomarker group BEFREE Bloom syndrome, genomic instability and cancer: the SOS-like hypothesis. 15950375 2006