DisGeNET - a database of gene-disease associations

Lacrimoauriculodentodigital syndrome, C0265269

Variant: rs121918508 ×

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:

rs121918508

FGFR2

0.800

GeneticVariation

UNIPROT

Structural basis for reduced FGFR2 activity in LADD syndrome: Implications for FGFR autoinhibition and activation.

18056630

2007

dbSNP:

rs121918508

FGFR2

0.800

GeneticVariation

UNIPROT

Mutations in different components of FGF signaling in LADD syndrome.

16501574

2006

dbSNP:

rs121918508

FGFR2

0.800

CausalMutation

CLINVAR