DisGeNET - a database of gene-disease associations

Osteochondrodysplasias, C0029422

Variant: rs121908077 ×

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:

rs121908077

SLC26A2

0.700

CausalMutation

CLINVAR

Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells.

15294877

2004

dbSNP:

rs121908077

SLC26A2

0.700

CausalMutation

CLINVAR

Identification of the Finnish founder mutation for diastrophic dysplasia (DTD).

10482955

1999

dbSNP:

rs121908077

SLC26A2

0.700

CausalMutation

CLINVAR

Mutational analysis of the DTDST gene in a fetus with achondrogenesis type 1B.

9637425

1998

dbSNP:

rs121908077

SLC26A2

0.700

CausalMutation

CLINVAR

Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene.

8528239

1996