rs201573646, MAD2L1BP

N. diseases: 2
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 H304R/+ mice displayed distal muscle weakness and loss of motor coordination phenotypes consistent with those of individuals with CMT2. 29379136 2018
Paresis
CUI: C0030552
Disease: Paresis
0.010 GeneticVariation BEFREE H304R/+ mice displayed distal muscle weakness and loss of motor coordination phenotypes consistent with those of individuals with CMT2. 29379136 2018