DisGeNET - a database of gene-disease associations

Hereditary Multiple Exostoses, C0015306

Variant: rs1554578798 ×

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:

rs1554578798

EXT1

0.700

CausalMutation

CLINVAR

Carriers of loss-of-function mutations in EXT display impaired pancreatic beta-cell reserve due to smaller pancreas volume.

25541963

2014

dbSNP:

rs1554578798

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:

rs1554578798

EXT1

0.700

CausalMutation

CLINVAR

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

19810120

2009