rs104894681, FKRP

N. diseases: 10
Disease: CAMPOMELIC DYSPLASIA ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
CAMPOMELIC DYSPLASIA
CUI: C1861922
Disease: CAMPOMELIC DYSPLASIA
0.010 GeneticVariation BEFREE Using AAV9-mediated overexpression of mutant human FKRP bearing the P448L mutation (mhFKRP-P448L) associated with severe congenital muscular dystrophy (CMD), we demonstrate the restoration of functional glycosylation of α-DG and reduction in markers of disease progression. 29858056 2018