DisGeNET - a database of gene-disease associations

FLNA, filamin A, 2316

N. diseases: 571; N. variants: 85

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs137853315

Entrez Id:	2316
Gene Symbol:	FLNA

FLNA

CUI:	C1848213
Disease:

Periventricular Heterotopia, X-Linked

0.800

GeneticVariation

UNIPROT

Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome.

15668422

2005

dbSNP:

rs137853315

Entrez Id:	2316
Gene Symbol:	FLNA

FLNA

CUI:	C1848213
Disease:

Periventricular Heterotopia, X-Linked

0.800

GeneticVariation

UNIPROT

Germline and mosaic mutations of FLN1 in men with periventricular heterotopia.

15249610

2004

dbSNP:

rs137853315

Entrez Id:	2316
Gene Symbol:	FLNA

FLNA

CUI:	C1848213
Disease:

Periventricular Heterotopia, X-Linked

0.800

GeneticVariation

UNIPROT

Ehlers-Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation.

15994863

2006

dbSNP:

rs137853315

Entrez Id:	2316
Gene Symbol:	FLNA

FLNA

CUI:	C1848213
Disease:

Periventricular Heterotopia, X-Linked

0.800

GeneticVariation

UNIPROT

A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndrome.

16299064

2006

dbSNP:

rs137853315

Entrez Id:	2316
Gene Symbol:	FLNA

FLNA

CUI:	C1848213
Disease:

Periventricular Heterotopia, X-Linked

0.800

GeneticVariation

UNIPROT

Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females.

11532987

2001

dbSNP:

rs137853317

Entrez Id:	2316
Gene Symbol:	FLNA

FLNA

CUI:	C0265251
Disease:

Oto-Palato-digital syndrome type 1

0.800

GeneticVariation

UNIPROT

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

27193221

2016

dbSNP:

rs137853317

Entrez Id:	2316
Gene Symbol:	FLNA

FLNA

CUI:	C0265251
Disease:

Oto-Palato-digital syndrome type 1

0.800

GeneticVariation

UNIPROT

A novel filamin A D203Y mutation in a female patient with otopalatodigital type 1 syndrome and extremely skewed X chromosome inactivation.

15940695

2005

dbSNP:

rs137853317

Entrez Id:	2316
Gene Symbol:	FLNA

FLNA

CUI:	C0265251
Disease:

Oto-Palato-digital syndrome type 1

0.800

GeneticVariation

UNIPROT

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

12612583

2003

dbSNP:

rs137853318

Entrez Id:	2316
Gene Symbol:	FLNA

FLNA

CUI:	C1844696
Disease:

OTOPALATODIGITAL SYNDROME, TYPE II

0.800

GeneticVariation

UNIPROT

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

27193221

2016

dbSNP:

rs137853318

Entrez Id:	2316
Gene Symbol:	FLNA

FLNA

CUI:	C1844696
Disease:

OTOPALATODIGITAL SYNDROME, TYPE II

0.800

GeneticVariation

UNIPROT

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

12612583

2003

dbSNP:

rs137853318

Entrez Id:	2316
Gene Symbol:	FLNA

FLNA

CUI:	C1844696
Disease:

OTOPALATODIGITAL SYNDROME, TYPE II

0.800

GeneticVariation

UNIPROT

Otopalatodigital syndrome type 2 in two siblings with a novel filamin A 629G>T mutation: clinical, pathological, and molecular findings.

17431908

2007

dbSNP:

rs28935169

Entrez Id:	2316
Gene Symbol:	FLNA

FLNA

CUI:	C1848213
Disease:

Periventricular Heterotopia, X-Linked

0.800

GeneticVariation

UNIPROT

Germline and mosaic mutations of FLN1 in men with periventricular heterotopia.

15249610

2004

dbSNP:

rs28935169

Entrez Id:	2316
Gene Symbol:	FLNA

FLNA

CUI:	C1848213
Disease:

Periventricular Heterotopia, X-Linked

0.800

GeneticVariation

UNIPROT

Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome.

15668422

2005

dbSNP:

rs28935169

Entrez Id:	2316
Gene Symbol:	FLNA

FLNA

CUI:	C1848213
Disease:

Periventricular Heterotopia, X-Linked

0.800

GeneticVariation

UNIPROT

A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndrome.

16299064

2006

dbSNP:

rs28935169

Entrez Id:	2316
Gene Symbol:	FLNA

FLNA

CUI:	C1848213
Disease:

Periventricular Heterotopia, X-Linked

0.800

GeneticVariation

UNIPROT

Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females.

11532987

2001

dbSNP:

rs28935169

Entrez Id:	2316
Gene Symbol:	FLNA

FLNA

CUI:	C1848213
Disease:

Periventricular Heterotopia, X-Linked

0.800

GeneticVariation

UNIPROT

Familial periventricular heterotopia: missense and distal truncating mutations of the FLN1 gene.

11914408

2002

dbSNP:

rs28935169

Entrez Id:	2316
Gene Symbol:	FLNA

FLNA

CUI:	C1848213
Disease:

Periventricular Heterotopia, X-Linked

0.800

GeneticVariation

UNIPROT

Ehlers-Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation.

15994863

2006

dbSNP:

rs28935469

Entrez Id:	2316
Gene Symbol:	FLNA

FLNA

CUI:	C0265251
Disease:

Oto-Palato-digital syndrome type 1

0.800

GeneticVariation

UNIPROT

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

12612583

2003

dbSNP:

rs28935469

Entrez Id:	2316
Gene Symbol:	FLNA

FLNA

CUI:	C0265251
Disease:

Oto-Palato-digital syndrome type 1

0.800

GeneticVariation

UNIPROT

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

27193221

2016

dbSNP:

rs28935469

Entrez Id:	2316
Gene Symbol:	FLNA

FLNA

CUI:	C0265251
Disease:

Oto-Palato-digital syndrome type 1

0.800

GeneticVariation

UNIPROT

A novel filamin A D203Y mutation in a female patient with otopalatodigital type 1 syndrome and extremely skewed X chromosome inactivation.

15940695

2005

dbSNP:

rs28935471

Entrez Id:	2316
Gene Symbol:	FLNA

FLNA

CUI:	C4281559
Disease:

FRONTOMETAPHYSEAL DYSPLASIA 1

0.800

GeneticVariation

UNIPROT

Genotype-epigenotype-phenotype correlations in females with frontometaphyseal dysplasia.

16596676

2006

dbSNP:

rs28935471

Entrez Id:	2316
Gene Symbol:	FLNA

FLNA

CUI:	C4281559
Disease:

FRONTOMETAPHYSEAL DYSPLASIA 1

0.800

GeneticVariation

UNIPROT

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

12612583

2003

dbSNP:

rs28935471

Entrez Id:	2316
Gene Symbol:	FLNA

FLNA

CUI:	C4281559
Disease:

FRONTOMETAPHYSEAL DYSPLASIA 1

0.800

GeneticVariation

UNIPROT

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

27193221

2016

dbSNP:

rs28935472

Entrez Id:	2316
Gene Symbol:	FLNA

FLNA

CUI:	C0025237
Disease:

Melnick-Needles Syndrome

0.800

GeneticVariation

UNIPROT

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

27193221

2016

dbSNP:

rs28935472

Entrez Id:	2316
Gene Symbol:	FLNA

FLNA

CUI:	C0025237
Disease:

Melnick-Needles Syndrome

0.800

GeneticVariation

UNIPROT

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

12612583

2003