XYLT2, xylosyltransferase 2, 64132

N. diseases: 138; N. variants: 7
Disease: Spondylo-ocular syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 Biomarker disease GENOMICS_ENGLAND 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 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 Two novel mutations in XYLT2 cause spondyloocular syndrome. 28884924 2017
CUI: C4225412
Disease: Spondylo-ocular syndrome
Spondylo-ocular syndrome 		0.450 Biomarker disease GENOMICS_ENGLAND 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 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 Biomarker disease GENOMICS_ENGLAND These studies demonstrate that human XylT2 deficiency results in vertebral compression fractures, sensorineural hearing loss, eye defects, and heart defects, a phenotype that is similar to the autosomal-recessive disorder spondylo-ocular syndrome of unknown cause. 26027496 2015
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: C4225412
Disease: Spondylo-ocular syndrome
Spondylo-ocular syndrome 		0.450 Biomarker disease GENOMICS_ENGLAND These studies demonstrate that human XylT2 deficiency results in vertebral compression fractures, sensorineural hearing loss, eye defects, and heart defects, a phenotype that is similar to the autosomal-recessive disorder spondylo-ocular syndrome of unknown cause. 26027496 2015
CUI: C4225412
Disease: Spondylo-ocular syndrome
Spondylo-ocular syndrome 		0.450 CausalMutation disease CLINVAR
CUI: C4225412
Disease: Spondylo-ocular syndrome
Spondylo-ocular syndrome 		0.450 GeneticVariation disease CLINVAR