COL13A1, collagen type XIII alpha 1 chain, 1305

N. diseases: 139; N. variants: 8
Disease: MYASTHENIC SYNDROME, CONGENITAL, 19 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225235
Disease: MYASTHENIC SYNDROME, CONGENITAL, 19
MYASTHENIC SYNDROME, CONGENITAL, 19 		0.600 Biomarker disease MGD Collagen XIII secures pre- and postsynaptic integrity of the neuromuscular synapse. 28369367 2017
CUI: C4225235
Disease: MYASTHENIC SYNDROME, CONGENITAL, 19
MYASTHENIC SYNDROME, CONGENITAL, 19 		0.600 Biomarker disease GENOMICS_ENGLAND Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain. 26626625 2015
CUI: C4225235
Disease: MYASTHENIC SYNDROME, CONGENITAL, 19
MYASTHENIC SYNDROME, CONGENITAL, 19 		0.600 CausalMutation disease CLINVAR
CUI: C4225235
Disease: MYASTHENIC SYNDROME, CONGENITAL, 19
MYASTHENIC SYNDROME, CONGENITAL, 19 		0.600 GeneticVariation disease CLINVAR