DisGeNET - a database of gene-disease associations

FBLN5, fibulin 5, 10516

N. diseases: 150; N. variants: 20

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:

rs144288844

Entrez Id:	10516
Gene Symbol:	FBLN5

FBLN5

CUI:	C4225406
Disease:

NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION

0.800

GeneticVariation

UNIPROT

Czech family confirms the link between FBLN5 and Charcot-Marie-Tooth type 1 neuropathy.

23328402

2013

dbSNP:

rs864309526

Entrez Id:	10516
Gene Symbol:	FBLN5

FBLN5

CUI:	C4225406
Disease:

NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION

0.800

GeneticVariation

UNIPROT

Czech family confirms the link between FBLN5 and Charcot-Marie-Tooth type 1 neuropathy.

23328402

2013

dbSNP:

rs144288844

Entrez Id:	10516
Gene Symbol:	FBLN5

FBLN5

CUI:	C4225406
Disease:

NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION

0.800

GeneticVariation

UNIPROT

Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin.

21576112

2011

dbSNP:

rs864309526

Entrez Id:	10516
Gene Symbol:	FBLN5

FBLN5

CUI:	C4225406
Disease:

NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION

0.800

GeneticVariation

UNIPROT

Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin.

21576112

2011

dbSNP:

rs121434299

Entrez Id:	10516
Gene Symbol:	FBLN5

FBLN5

CUI:	C4225406
Disease:

NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION

0.800

GeneticVariation

UNIPROT

Structural effects of fibulin 5 missense mutations associated with age-related macular degeneration and cutis laxa.

20007835

2010

dbSNP:

rs121434299

Entrez Id:	10516
Gene Symbol:	FBLN5

FBLN5

CUI:	C4225406
Disease:

NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION

0.800

GeneticVariation

UNIPROT

Biophysical characterisation of fibulin-5 proteins associated with disease.

20599547

2010

dbSNP:

rs121434300

Entrez Id:	10516
Gene Symbol:	FBLN5

FBLN5

CUI:	C4225406
Disease:

NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION

0.800

GeneticVariation

UNIPROT

Structural effects of fibulin 5 missense mutations associated with age-related macular degeneration and cutis laxa.

20007835

2010

dbSNP:

rs121434300

Entrez Id:	10516
Gene Symbol:	FBLN5

FBLN5

CUI:	C4225406
Disease:

NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION

0.800

GeneticVariation

UNIPROT

Biophysical characterisation of fibulin-5 proteins associated with disease.

20599547

2010

dbSNP:

rs121434301

Entrez Id:	10516
Gene Symbol:	FBLN5

FBLN5

CUI:	C4225406
Disease:

NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION

0.800

GeneticVariation

UNIPROT

Biophysical characterisation of fibulin-5 proteins associated with disease.

20599547

2010

dbSNP:

rs121434301

Entrez Id:	10516
Gene Symbol:	FBLN5

FBLN5

CUI:	C4225406
Disease:

NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION

0.800

GeneticVariation

UNIPROT

Structural effects of fibulin 5 missense mutations associated with age-related macular degeneration and cutis laxa.

20007835

2010

dbSNP:

rs121434302

Entrez Id:	10516
Gene Symbol:	FBLN5

FBLN5

CUI:	C4225406
Disease:

NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION

0.800

GeneticVariation

UNIPROT

Biophysical characterisation of fibulin-5 proteins associated with disease.

20599547

2010

dbSNP:

rs121434302

Entrez Id:	10516
Gene Symbol:	FBLN5

FBLN5

CUI:	C4225406
Disease:

NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION

0.800

GeneticVariation

UNIPROT

Structural effects of fibulin 5 missense mutations associated with age-related macular degeneration and cutis laxa.

20007835

2010

dbSNP:

rs121434303

Entrez Id:	10516
Gene Symbol:	FBLN5

FBLN5

CUI:	C4225406
Disease:

NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION

0.800

GeneticVariation

UNIPROT

Structural effects of fibulin 5 missense mutations associated with age-related macular degeneration and cutis laxa.

20007835

2010

dbSNP:

rs121434303

Entrez Id:	10516
Gene Symbol:	FBLN5

FBLN5

CUI:	C4225406
Disease:

NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION

0.800

GeneticVariation

UNIPROT

Biophysical characterisation of fibulin-5 proteins associated with disease.

20599547

2010

dbSNP:

rs28939072

Entrez Id:	10516
Gene Symbol:	FBLN5

FBLN5

CUI:	C4225406
Disease:

NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION

0.800

GeneticVariation

UNIPROT

Biophysical characterisation of fibulin-5 proteins associated with disease.

20599547

2010

dbSNP:

rs28939072

Entrez Id:	10516
Gene Symbol:	FBLN5

FBLN5

CUI:	C4225406
Disease:

NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION

0.800

GeneticVariation

UNIPROT

Structural effects of fibulin 5 missense mutations associated with age-related macular degeneration and cutis laxa.

20007835

2010

dbSNP:

rs28939073

Entrez Id:	10516
Gene Symbol:	FBLN5

FBLN5

CUI:	C4225406
Disease:

NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION

0.800

GeneticVariation

UNIPROT

Biophysical characterisation of fibulin-5 proteins associated with disease.

20599547

2010

dbSNP:

rs28939073

Entrez Id:	10516
Gene Symbol:	FBLN5

FBLN5

CUI:	C4225406
Disease:

NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION

0.800

GeneticVariation

UNIPROT

Structural effects of fibulin 5 missense mutations associated with age-related macular degeneration and cutis laxa.

20007835

2010

dbSNP:

rs80338766

Entrez Id:	10516
Gene Symbol:	FBLN5

FBLN5

CUI:	C0268351
Disease:

Cutis Laxa, Autosomal Recessive, Type I

0.800

GeneticVariation

UNIPROT

Structural effects of fibulin 5 missense mutations associated with age-related macular degeneration and cutis laxa.

20007835

2010

dbSNP:

rs80338766

Entrez Id:	10516
Gene Symbol:	FBLN5

FBLN5

CUI:	C0268351
Disease:

Cutis Laxa, Autosomal Recessive, Type I

0.800

GeneticVariation

UNIPROT

Biophysical characterisation of fibulin-5 proteins associated with disease.

20599547

2010

dbSNP:

rs80338766

Entrez Id:	10516
Gene Symbol:	FBLN5

FBLN5

CUI:	C0268351
Disease:

Cutis Laxa, Autosomal Recessive, Type I

0.800

GeneticVariation

UNIPROT

A p.C217R mutation in fibulin-5 from cutis laxa patients is associated with incomplete extracellular matrix formation in a skin equivalent model.

18185537

2008

dbSNP:

rs121434299

Entrez Id:	10516
Gene Symbol:	FBLN5

FBLN5

CUI:	C4225406
Disease:

NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION

0.800

GeneticVariation

UNIPROT

Reduced secretion of fibulin 5 in age-related macular degeneration and cutis laxa.

16652333

2006

dbSNP:

rs121434300

Entrez Id:	10516
Gene Symbol:	FBLN5

FBLN5

CUI:	C4225406
Disease:

NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION

0.800

GeneticVariation

UNIPROT

Reduced secretion of fibulin 5 in age-related macular degeneration and cutis laxa.

16652333

2006

dbSNP:

rs121434301

Entrez Id:	10516
Gene Symbol:	FBLN5

FBLN5

CUI:	C4225406
Disease:

NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION

0.800

GeneticVariation

UNIPROT

Reduced secretion of fibulin 5 in age-related macular degeneration and cutis laxa.

16652333

2006

dbSNP:

rs121434302

Entrez Id:	10516
Gene Symbol:	FBLN5

FBLN5

CUI:	C4225406
Disease:

NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION

0.800

GeneticVariation

UNIPROT

Reduced secretion of fibulin 5 in age-related macular degeneration and cutis laxa.

16652333

2006