C1QTNF5, C1q and TNF related 5, 114902

N. diseases: 45; N. variants: 22
Disease: Macular degeneration ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111033578
rs111033578
Entrez Id: 83552;114902
Gene Symbol: MFRP;C1QTNF5
MFRP;C1QTNF5
CUI: C0024437
Disease:
Macular degeneration 		0.020 GeneticVariation BEFREE Characterisation of a C1qtnf5 Ser163Arg knock-in mouse model of late-onset retinal macular degeneration. 22110650 2011
dbSNP: rs111033578
rs111033578
Entrez Id: 83552;114902
Gene Symbol: MFRP;C1QTNF5
MFRP;C1QTNF5
CUI: C0024437
Disease:
Macular degeneration 		0.020 GeneticVariation 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