DisGeNET - a database of gene-disease associations

Source: ALL

Disease: FRONTOMETAPHYSEAL DYSPLASIA 1 ×

Variant: rs137853312 ×

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:

rs137853312

FLNA

CUI:	C4281559
Disease:	FRONTOMETAPHYSEAL DYSPLASIA 1

FRONTOMETAPHYSEAL DYSPLASIA 1

0.810

GeneticVariation

UNIPROT

Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum.

27193221

2016

dbSNP:

rs137853312

FLNA

CUI:	C4281559
Disease:	FRONTOMETAPHYSEAL DYSPLASIA 1

FRONTOMETAPHYSEAL DYSPLASIA 1

0.810

GeneticVariation

UNIPROT

In a second family with FMD, we identified a known mutation (S1186L) in a mother and her son.

16596676

2006

dbSNP:

rs137853312

FLNA

CUI:	C4281559
Disease:	FRONTOMETAPHYSEAL DYSPLASIA 1

FRONTOMETAPHYSEAL DYSPLASIA 1

0.810

GeneticVariation

BEFREE

In a second family with FMD, we identified a known mutation (S1186L) in a mother and her son.

16596676

2006

dbSNP:

rs137853312

FLNA

CUI:	C4281559
Disease:	FRONTOMETAPHYSEAL DYSPLASIA 1

FRONTOMETAPHYSEAL DYSPLASIA 1

0.810

GeneticVariation

UNIPROT

Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.

12612583

2003

dbSNP:

rs137853312

FLNA

CUI:	C4281559
Disease:	FRONTOMETAPHYSEAL DYSPLASIA 1

FRONTOMETAPHYSEAL DYSPLASIA 1

0.810

CausalMutation

CLINVAR