Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC
0.600 Biomarker disease GENOMICS_ENGLAND Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea. 27569547 2016
MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC
0.600 GeneticVariation disease UNIPROT Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea. 27569547 2016
MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC
0.600 Biomarker disease GENOMICS_ENGLAND Distal hereditary motor neuropathy with vocal cord paresis: from difficulty in choral singing to a molecular genetic diagnosis. 26786006 2016
MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC
0.600 Biomarker disease GENOMICS_ENGLAND Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea. 27569547 2016
MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC
0.600 CausalMutation disease CLINVAR
MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC
0.600 GeneticVariation disease CLINVAR