MFRP, membrane frizzled-related protein, 83552

N. diseases: 63; N. variants: 22
Disease: Glycogen Storage Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		0.010 Biomarker group BEFREE To report co-occurrence of two rare recessive conditions, the membrane frizzled-related protein (MFRP)-related ocular phenotype and glycogen storage disease type 1b (GSD-1b), in three siblings in an Omani family. 28511025 2017