Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 114902
Gene Symbol: C1QTNF5
C1QTNF5
0.370 GeneticVariation disease BEFREE The pathogenic mutation S163R in C1QTNF5 causes a disorder known as autosomal dominant late-onset retinal degeneration (L-ORD), characterized by the presence of thick extracellular sub-RPE deposits, similar histopathologically to those found in AMD patients. 29721928 2018
Entrez Id: 114902
Gene Symbol: C1QTNF5
C1QTNF5
0.370 GeneticVariation disease BEFREE The macular degeneration-linked C1QTNF5 (S163) mutation causes higher-order structural rearrangements. 24531000 2014
Entrez Id: 114902
Gene Symbol: C1QTNF5
C1QTNF5
0.370 Biomarker disease BEFREE Crystal structure of the globular domain of C1QTNF5: Implications for late-onset retinal macular degeneration. 22892318 2012
Entrez Id: 114902
Gene Symbol: C1QTNF5
C1QTNF5
0.370 GeneticVariation disease BEFREE Characterisation of a C1qtnf5 Ser163Arg knock-in mouse model of late-onset retinal macular degeneration. 22110650 2011
Entrez Id: 114902
Gene Symbol: C1QTNF5
C1QTNF5
0.370 GeneticVariation disease BEFREE Disease mechanisms in late-onset retinal macular degeneration associated with mutation in C1QTNF5. 16600989 2006
Entrez Id: 114902
Gene Symbol: C1QTNF5
C1QTNF5
0.370 Biomarker disease CTD_human All individuals with either LAZ and/or macular degeneration carry the same CTRP5 S163R mutation, which is transmitted in autosomal dominant manner. 16123441 2005
Entrez Id: 114902
Gene Symbol: C1QTNF5
C1QTNF5
0.370 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
Entrez Id: 114902
Gene Symbol: C1QTNF5
C1QTNF5
0.370 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