MAD2L1BP, MAD2L1 binding protein, 9587

N. diseases: 61; N. variants: 6
Disease: Muscle Weakness ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs201573646
rs201573646
Entrez Id: 9587
Gene Symbol: MAD2L1BP
MAD2L1BP
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