ANO5, anoctamin 5, 203859

N. diseases: 110; N. variants: 62
Disease: Muscular stiffness ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0221170
Disease: Muscular stiffness
Muscular stiffness 		0.110 AlteredExpression phenotype BEFREE This case suggests that LGMD2L may affect a broader population than has been previously thought, physicians should consider the possibility of ANO5 mutation even in patients showing elevated CK level with no apparent muscle weakness but muscle stiffness or cramps. 28214267 2017
CUI: C0221170
Disease: Muscular stiffness
Muscular stiffness 		0.110 Biomarker phenotype HPO