FBLN5, fibulin 5, 10516

N. diseases: 150; N. variants: 20
Disease: NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434301
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
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: rs121434301
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: rs121434301
rs121434301
Entrez Id: 10516
Gene Symbol: FBLN5
FBLN5
CUI: C4225406
Disease:
NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION 		0.800 GeneticVariation UNIPROT Missense variations in the fibulin 5 gene and age-related macular degeneration. 15269314 2004
dbSNP: rs121434301
rs121434301
Entrez Id: 10516
Gene Symbol: FBLN5
FBLN5
CUI: C4225406
Disease:
NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION 		A 0.800 CausalMutation CLINVAR