DisGeNET - a database of gene-disease associations

Multiple synostoses syndrome 1, C0342282

Variant: rs387906844 ×

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:

rs387906844

NOG

0.800

GeneticVariation

UNIPROT

Facioaudiosymphalangism syndrome and growth acceleration associated with a heterozygous NOG mutation.

20503332

2010

dbSNP:

rs387906844

NOG

0.800

GeneticVariation

UNIPROT

Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis.

10080184

1999

dbSNP:

rs387906844

NOG

0.800

CausalMutation

CLINVAR