DisGeNET - a database of gene-disease associations

Hereditary Multiple Exostoses, C0015306

Variant: rs119103287 ×

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:

rs119103287

EXT1

0.700

CausalMutation

CLINVAR

Large-scale mutational analysis in the EXT1 and EXT2 genes for Japanese patients with multiple osteochondromas.

26961984

2016

dbSNP:

rs119103287

EXT1

0.700

CausalMutation

CLINVAR

Large-scale mutational analysis in the EXT1 and EXT2 genes for Japanese patients with multiple osteochondromas.

26961984

2016

dbSNP:

rs119103287

EXT1

0.700

CausalMutation

CLINVAR

Hereditary multiple exostoses and solitary osteochondroma associated with growth hormone deficiency: to treat or not to treat?

26239617

2015

dbSNP:

rs119103287

EXT1

0.700

CausalMutation

CLINVAR

Mutational screening of EXT1 and EXT2 genes in Polish patients with hereditary multiple exostoses.

24532482

2014

dbSNP:

rs119103287

EXT1

0.700

CausalMutation

CLINVAR

Loss of function in heparan sulfate elongation genes EXT1 and EXT 2 results in improved nitric oxide bioavailability and endothelial function.

25468659

2014

dbSNP:

rs119103287

EXT1

0.700

CausalMutation

CLINVAR

Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas.

23439489

2013

dbSNP:

rs119103287

EXT1

0.700

CausalMutation

CLINVAR

Genetic analysis of hereditary multiple exostoses in Tunisian families: a novel frame-shift mutation in the EXT1 gene.

18330718

2009

dbSNP:

rs119103287

EXT1

0.700

CausalMutation

CLINVAR

Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb).

19810120

2009

dbSNP:

rs119103287

EXT1

0.700

CausalMutation

CLINVAR

Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb).

19810120

2009

dbSNP:

rs119103287

EXT1

0.700

CausalMutation

CLINVAR

Mutation screening of EXT1 and EXT2 by denaturing high-performance liquid chromatography, direct sequencing analysis, fluorescence in situ hybridization, and a new multiplex ligation-dependent probe amplification probe set in patients with multiple osteochondromas.

18165274

2008

dbSNP:

rs119103287

EXT1

0.700

CausalMutation

CLINVAR

Etiological point mutations in the hereditary multiple exostoses gene EXT1: a functional analysis of heparan sulfate polymerase activity.

11391482

2001

dbSNP:

rs119103287

EXT1

0.700

CausalMutation

CLINVAR

Etiological point mutations in the hereditary multiple exostoses gene EXT1: a functional analysis of heparan sulfate polymerase activity.

11391482

2001

dbSNP:

rs119103287

EXT1

0.700

CausalMutation

CLINVAR

Comparison of fluorescent single-strand conformation polymorphism analysis and denaturing high-performance liquid chromatography for detection of EXT1 and EXT2 mutations in hereditary multiple exostoses.

10713884

2000

dbSNP:

rs119103287

EXT1

0.700

CausalMutation

CLINVAR

Evaluation of locus heterogeneity and EXT1 mutations in 34 families with hereditary multiple exostoses.

9521425

1998

dbSNP: