DisGeNET - a database of gene-disease associations

XYLT2, xylosyltransferase 2, 64132

N. diseases: 138; N. variants: 7

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs6504649

Entrez Id:	64132
Gene Symbol:	XYLT2

XYLT2

CUI:	C0033847
Disease:

Pseudoxanthoma Elasticum

0.710

GeneticVariation

BEFREE

The amino acid substitution p.T801R (XT-II; c.2402C>G) occurs with significantly higher frequency in patients under 30 years of age at diagnosis (43% v 26%; p = 0.04); all PXE patients with this variation suffer from skin lesions compared to only 75% of the wild type patients (p = 0.002). c.166G>A, c.1569C>T, and c.2402C>G in the XYLT-II gene were found to be more frequent in patients with higher organ involvement (p = 0.04, p = 0.01, and p = 0.02, respectively).

16571645

2006

dbSNP:

rs6504649

Entrez Id:	64132
Gene Symbol:	XYLT2

XYLT2

CUI:	C0033847
Disease:

Pseudoxanthoma Elasticum

0.710

GeneticVariation

UNIPROT

dbSNP:

rs797044806

Entrez Id:	64132
Gene Symbol:	XYLT2

XYLT2

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

Homozygous XYLT2 variants as a cause of spondyloocular syndrome.

29136277

2018

dbSNP:

rs797044806

Entrez Id:	64132
Gene Symbol:	XYLT2

XYLT2

CUI:	C0000772
Disease:

Multiple congenital anomalies

0.700

CausalMutation

CLINVAR

Homozygous XYLT2 variants as a cause of spondyloocular syndrome.

29136277

2018

dbSNP:

rs797044806

Entrez Id:	64132
Gene Symbol:	XYLT2

XYLT2

CUI:	C0000772
Disease:

Multiple congenital anomalies

0.700

CausalMutation

CLINVAR

Two novel mutations in XYLT2 cause spondyloocular syndrome.

28884924

2017

dbSNP:

rs797044806

Entrez Id:	64132
Gene Symbol:	XYLT2

XYLT2

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

Two novel mutations in XYLT2 cause spondyloocular syndrome.

28884924

2017

dbSNP:

rs797044806

Entrez Id:	64132
Gene Symbol:	XYLT2

XYLT2

CUI:	C0000772
Disease:

Multiple congenital anomalies

0.700

CausalMutation

CLINVAR

Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum.

26987875

2016

dbSNP:

rs797044806

Entrez Id:	64132
Gene Symbol:	XYLT2

XYLT2

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum.

26987875

2016

dbSNP:

rs797044806

Entrez Id:	64132
Gene Symbol:	XYLT2

XYLT2

CUI:	C0000772
Disease:

Multiple congenital anomalies

0.700

CausalMutation

CLINVAR

Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defects.

26027496

2015

dbSNP:

rs797044806

Entrez Id:	64132
Gene Symbol:	XYLT2

XYLT2

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defects.

26027496

2015

dbSNP:

rs1423415130

Entrez Id:	64132
Gene Symbol:	XYLT2

XYLT2

CUI:	C0086543
Disease:

Cataract

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1423415130

Entrez Id:	64132
Gene Symbol:	XYLT2

XYLT2

CUI:	C1834124
Disease:

Shield chest

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1423415130

Entrez Id:	64132
Gene Symbol:	XYLT2

XYLT2

CUI:	C4225412
Disease:

Spondylo-ocular syndrome

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1423415130

Entrez Id:	64132
Gene Symbol:	XYLT2

XYLT2

CUI:	C0035305
Disease:

Retinal Detachment

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1423415130

Entrez Id:	64132
Gene Symbol:	XYLT2

XYLT2

CUI:	C0262431
Disease:

Compression fracture of vertebral column

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1423415130

Entrez Id:	64132
Gene Symbol:	XYLT2

XYLT2

CUI:	C0029453
Disease:

Osteopenia

0.700

GeneticVariation

CLINVAR

dbSNP:

rs6504649

Entrez Id:	64132
Gene Symbol:	XYLT2

XYLT2

CUI:	C3279392
Disease:

PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF

0.700

SusceptibilityMutation

CLINVAR

dbSNP:

rs797044806

Entrez Id:	64132
Gene Symbol:	XYLT2

XYLT2

CUI:	C4225412
Disease:

Spondylo-ocular syndrome

0.700

CausalMutation

CLINVAR

dbSNP:

rs797044807

Entrez Id:	64132
Gene Symbol:	XYLT2

XYLT2

CUI:	C4225412
Disease:

Spondylo-ocular syndrome

0.700

CausalMutation

CLINVAR

dbSNP:

rs113835371

Entrez Id:	64132
Gene Symbol:	XYLT2

XYLT2

CUI:	C0037284
Disease:

Skin lesion

0.010

GeneticVariation

BEFREE

16571645

2006

dbSNP:

rs4794136

Entrez Id:	64132
Gene Symbol:	XYLT2

XYLT2

CUI:	C0029408
Disease:

Degenerative polyarthritis

0.010

GeneticVariation

BEFREE

The variation c.1569C>T (XYLT-II) occurs with a significantly higher frequency in younger OA patients in comparison with the older ones (P<0.001) and the controls (P<0.02).

16376579

2006

dbSNP:

rs6504649

Entrez Id:	64132
Gene Symbol:	XYLT2

XYLT2

CUI:	C0037284
Disease:

Skin lesion

0.010

GeneticVariation

BEFREE

16571645

2006

dbSNP:

rs6504649

Entrez Id:	64132
Gene Symbol:	XYLT2

XYLT2

CUI:	C0011881
Disease:

Diabetic Nephropathy

0.010

GeneticVariation

BEFREE

The allelic frequencies of the other investigated XYLT-I and XYLT-II variations (XYLT-I: c.1989T>C in exon 9; XYLT-II: IVS6-9T>C and IVS6-14_IVS6-13insG in intron 5; and c.2402C>G: p.T801R in exon 11) were not different between patients with and without diabetic nephropathy.

17003309

2006

dbSNP:

rs745745346

Entrez Id:	64132
Gene Symbol:	XYLT2

XYLT2

CUI:	C0029456
Disease:

Osteoporosis

0.010

GeneticVariation

BEFREE

These findings are of potential clinical usefulness, as the TGF beta T869C genotype could be used, in conjunction with other genetic and clinical information, to determine an individual's risk of osteoporosis.

13678774

2003