SLC5A7, solute carrier family 5 member 7, 60482

N. diseases: 127; N. variants: 12
Disease: MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310694
Disease: MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC
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
CUI: C4310694
Disease: MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC
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
CUI: C4310694
Disease: MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC
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
CUI: C4310694
Disease: MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC
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
CUI: C4310694
Disease: MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC
MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC 		0.600 CausalMutation disease CLINVAR
CUI: C4310694
Disease: MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC
MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC 		0.600 GeneticVariation disease CLINVAR