DisGeNET - a database of gene-disease associations

Otospondylomegaepiphyseal dysplasia, C4520892

Variant: rs121912945 ×

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:

rs121912945

COL11A2

0.800

GeneticVariation

UNIPROT

Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene.

10677296

2000

dbSNP:

rs121912945

COL11A2

0.800

GeneticVariation

UNIPROT

Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus.

7859284

1995

dbSNP:

rs121912945

COL11A2

0.800

CausalMutation

CLINVAR