Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.020 GeneticVariation disease BEFREE All individuals with either LAZ and/or macular degeneration carry the same CTRP5 S163R mutation, which is transmitted in autosomal dominant manner. 16123441 2005
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.020 Biomarker disease BEFREE Mutation in a short-chain collagen gene, CTRP5, results in extracellular deposit formation in late-onset retinal degeneration: a genetic model for age-related macular degeneration. 12944416 2003