DisGeNET - a database of gene-disease associations

Spondyloepiphyseal Dysplasia Tarda, X-Linked, C3541456

Variant: rs769218264 ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs769218264

TRAPPC2B ; ZNF547

0.700

GeneticVariation

UNIPROT

The molecular basis of X-linked spondyloepiphyseal dysplasia tarda.

11349230

2001

dbSNP:

rs769218264

TRAPPC2B ; ZNF547

0.700

GeneticVariation

UNIPROT

A missense mutation in the SEDL gene results in delayed onset of X linked spondyloepiphyseal dysplasia in a large pedigree.

11424925

2001

dbSNP:

rs769218264

TRAPPC2B ; ZNF547

0.700

GeneticVariation

UNIPROT

Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda.

10431248

1999