COL13A1, collagen type XIII alpha 1 chain, 1305

N. diseases: 139; N. variants: 8
Disease: Congenital Myasthenic Syndromes, Presynaptic ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751884
Disease: Congenital Myasthenic Syndromes, Presynaptic
Congenital Myasthenic Syndromes, Presynaptic 		0.500 GermlineCausalMutation disease ORPHANET Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain. 26626625 2015
CUI: C0751884
Disease: Congenital Myasthenic Syndromes, Presynaptic
Congenital Myasthenic Syndromes, Presynaptic 		0.500 Biomarker disease CTD_human