DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Multiple congenital anomalies ×

Variant: rs797044806 ×

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:

rs797044806

XYLT2

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.700

CausalMutation

CLINVAR

Homozygous XYLT2 variants as a cause of spondyloocular syndrome.

29136277

2018

dbSNP:

rs797044806

XYLT2

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.700

CausalMutation

CLINVAR

Two novel mutations in XYLT2 cause spondyloocular syndrome.

28884924

2017

dbSNP:

rs797044806

XYLT2

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.700

CausalMutation

CLINVAR

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

26987875

2016

dbSNP:

rs797044806

XYLT2

CUI:	C0000772
Disease:	Multiple congenital anomalies

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