LRP4, LDL receptor related protein 4, 4038

N. diseases: 151; N. variants: 23
Disease: Congenital Myasthenic Syndromes, Postsynaptic ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751883
Disease: Congenital Myasthenic Syndromes, Postsynaptic
Congenital Myasthenic Syndromes, Postsynaptic 		0.500 GermlineCausalMutation disease ORPHANET LRP4 third β-propeller domain mutations cause novel congenital myasthenia by compromising agrin-mediated MuSK signaling in a position-specific manner. 24234652 2014
CUI: C0751883
Disease: Congenital Myasthenic Syndromes, Postsynaptic
Congenital Myasthenic Syndromes, Postsynaptic 		0.500 Biomarker disease CTD_human