FBLN5, fibulin 5, 10516

N. diseases: 150; N. variants: 20
Disease: NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225406
Disease: NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION
NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION 		0.400 GeneticVariation disease UNIPROT Czech family confirms the link between FBLN5 and Charcot-Marie-Tooth type 1 neuropathy. 23328402 2013
CUI: C4225406
Disease: NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION
NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION 		0.400 GeneticVariation disease UNIPROT Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin. 21576112 2011
CUI: C4225406
Disease: NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION
NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION 		0.400 GeneticVariation disease UNIPROT Structural effects of fibulin 5 missense mutations associated with age-related macular degeneration and cutis laxa. 20007835 2010
CUI: C4225406
Disease: NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION
NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION 		0.400 GeneticVariation disease UNIPROT Biophysical characterisation of fibulin-5 proteins associated with disease. 20599547 2010
CUI: C4225406
Disease: NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION
NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION 		0.400 GeneticVariation disease UNIPROT Reduced secretion of fibulin 5 in age-related macular degeneration and cutis laxa. 16652333 2006
CUI: C4225406
Disease: NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION
NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION 		0.400 GeneticVariation disease UNIPROT Missense variations in the fibulin 5 gene and age-related macular degeneration. 15269314 2004
CUI: C4225406
Disease: NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION
NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION 		0.400 GeneticVariation disease CLINVAR
CUI: C4225406
Disease: NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION
NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION 		0.400 CausalMutation disease CLINVAR