MAD2L1BP, MAD2L1 binding protein, 9587

N. diseases: 61; N. variants: 6
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1837552
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L (disorder)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L (disorder) 		0.010 Biomarker disease BEFREE Thus, CMT2 neuropathy in this family represents a novel genetic entity that we have designated as CMT2L. 15021985 2004