MAD2L1BP, MAD2L1 binding protein, 9587

N. diseases: 61; N. variants: 6
Disease: Congenital hypomyelinating neuropathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0393818
Disease: Congenital hypomyelinating neuropathy
Congenital hypomyelinating neuropathy 		0.010 GeneticVariation disease BEFREE In one CMT2 family we founded the E56K mutation in the MPZ gene and in one CHN patient the T124K substitution was detected. 15094849 2004