rs1405183655, FA2H

N. diseases: 2
Disease: Muscle Weakness ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Muscle Weakness
CUI: C0151786
Disease: Muscle Weakness
0.010 GeneticVariation BEFREE In addition, our study revealed a novel missense mutation in PLA2G6 gene (c.3G > T:p.M1I) in one and half-year-old boy with muscle weakness and neurodevelopmental regression (speech, motor and cognition). 28821231 2017