rs28939072, FBLN5

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION
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
NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION
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
NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION
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
NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION
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
NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION
CUI: C4225406
Disease: NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION
0.800 CausalMutation CLINVAR
Age related macular degeneration
CUI: C0242383
Disease: Age related macular degeneration
0.010 GeneticVariation BEFREE Two missense mutations found in AMD patients (I169T and G267S) and two missense mutations found in CL patients (G202R and S227P) were analysed in a native-like context in recombinant fibulin-5 fragments. 20599547 2010