DisGeNET - a database of gene-disease associations

EXOSTOSES, MULTIPLE, TYPE II, C1851413

Variant: rs121918279 ×

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:

rs121918279

EXT2

0.700

CausalMutation

CLINVAR

Clinical characteristics of hereditary multiple exostoses: a retrospective study of mainland chinese cases in recent 23 years.

24496678

2014

dbSNP:

rs121918279

EXT2

0.700

CausalMutation

CLINVAR

Evaluation of the anatomic burden of patients with hereditary multiple exostoses.

17589361

2007

dbSNP:

rs121918279

EXT2

0.700

CausalMutation

CLINVAR

Genotype-phenotype correlation in hereditary multiple exostoses.

11432960

2001

dbSNP:

rs121918279

EXT2

0.700

CausalMutation

CLINVAR

Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses.

9463333

1998

dbSNP:

rs121918279

EXT2

0.700

CausalMutation

CLINVAR

Positional cloning of a gene involved in hereditary multiple exostoses.

8894688

1996