DisGeNET - a database of gene-disease associations

Hereditary Multiple Exostoses, C0015306

Variant: rs1554601568 ×

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:

rs1554601568

EXT1

0.700

CausalMutation

CLINVAR

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

24532482

2014

dbSNP:

rs1554601568

EXT1

0.700

CausalMutation

CLINVAR

"Genotype-phenotype correlation study in 529 patients with multiple hereditary exostoses: identification of ""protective"" and ""risk"" factors."

22258776

2011

dbSNP:

rs1554601568

EXT1

0.700

CausalMutation

CLINVAR

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

19810120

2009