Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6572
Gene Symbol: SLC18A3
SLC18A3
CUI: C4310654
Disease: MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC
MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC 		0.600 Biomarker GENOMICS_ENGLAND SLC18A3 variants lead to fetal akinesia deformation sequence early in pregnancy. 31059209

2019
Entrez Id: 6572
Gene Symbol: SLC18A3
SLC18A3
CUI: C4310654
Disease: MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC
MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC 		0.600 GeneticVariation UNIPROT Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome. 27590285

2016
Entrez Id: 6572
Gene Symbol: SLC18A3
SLC18A3
CUI: C4310654
Disease: MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC
MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC 		0.600 Biomarker GENOMICS_ENGLAND Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome. 27590285

2016
Entrez Id: 6572
Gene Symbol: SLC18A3
SLC18A3
CUI: C4310654
Disease: MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC
MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC 		0.600 CausalMutation CLINVAR

Entrez Id: 1103
Gene Symbol: CHAT
CHAT
CUI: C4310654
Disease: MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC
MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC 		0.100 CausalMutation CLINVAR