CD2AP, CD2 associated protein, 23607

N. diseases: 113; N. variants: 14
Disease: Myasthenic Syndromes, Congenital, Slow Channel ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751885
Disease: Myasthenic Syndromes, Congenital, Slow Channel
Myasthenic Syndromes, Congenital, Slow Channel 		0.010 Biomarker disease BEFREE A diagnosis of SCCMS should not be ruled out in cases of CMS with an apparent recessive inheritance pattern. 12141316 2002