DisGeNET - a database of gene-disease associations

Strudwick syndrome, C0700635

Variant: rs121912895 ×

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:

rs121912895

COL2A1

0.800

GeneticVariation

UNIPROT

Novel amino acid substitution in the Y-position of collagen type II causes spondyloepimetaphyseal dysplasia congenita.

16088915

2005

dbSNP:

rs121912895

COL2A1

0.800

GeneticVariation

UNIPROT

Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type.

7550321

1995

dbSNP:

rs121912895

COL2A1

0.800

CausalMutation

CLINVAR