DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Osteoglophonic dwarfism ×

Variant: rs121909631 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121909631

FGFR1

CUI:	C0432283
Disease:	Osteoglophonic dwarfism

Osteoglophonic dwarfism

0.800

GeneticVariation

UNIPROT

Extended mutational analyses of FGFR1 in osteoglophonic dysplasia.

16470795

2006

dbSNP:

rs121909631

FGFR1

CUI:	C0432283
Disease:	Osteoglophonic dwarfism

Osteoglophonic dwarfism

0.800

GeneticVariation

UNIPROT

Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation.

15625620

2005

dbSNP:

rs121909631

FGFR1

CUI:	C0432283
Disease:	Osteoglophonic dwarfism

Osteoglophonic dwarfism

0.800

CausalMutation

CLINVAR