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 |
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 |
Pseudoxanthoma Elasticum
|
0.520 |
Biomarker
|
disease |
CTD_human |
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 |
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 |
Spondylo-ocular syndrome
|
0.450 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
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 |
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 |
Spondylo-ocular syndrome
|
0.450 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
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 |
Spondylo-ocular syndrome
|
0.450 |
GeneticVariation
|
disease |
BEFREE |
Two novel mutations in XYLT2 cause spondyloocular syndrome.
|
28884924 |
2017 |
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 |
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 |
Spondylo-ocular syndrome
|
0.450 |
Biomarker
|
disease |
BEFREE |
Intrafamilial variability of XYLT2-related spondyloocular syndrome.
|
30496831 |
2019 |
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 |
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 |
Scleroderma
|
0.300 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Systemic Scleroderma
|
0.300 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Gronblad-Strandberg Syndrome
|
0.300 |
Biomarker
|
disease |
CTD_human |
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 |
Spondyloocular Syndrome, Autosomal Recessive
|
0.300 |
GermlineCausalMutation
|
disease |
ORPHANET |
Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defects.
|
26027496 |
2015 |
Pseudoxanthoma Elasticum, Incomplete
|
0.300 |
Biomarker
|
disease |
CTD_human |
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 |
Osteoporosis
|
0.110 |
Biomarker
|
disease |
HPO |
|
|
|
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 |
Angioid Streaks
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Restrictive cardiomyopathy
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Sensorineural Hearing Loss (disorder)
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|