C1QTNF5, C1q and TNF related 5, 114902

N. diseases: 45; N. variants: 22
Disease: Glycogen storage disease type II ×
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: C0017921
Disease:
Glycogen storage disease type II 		0.010 GeneticVariation 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