Presynaptic congenital myasthenic syndrome

Disease Term Disease ID Gene Symbol Classification References Source
PRESYNAPTIC CONGENITAL MYASTHENIC SYNDROME
MONDO:0020345
AGRN Causal
22205389 19631309 20301347
GWAS catalog
SNAP25 Causal
25381298 25792100
GenCC
CHAT Unknown
20301347
GWAS catalog
COL13A1 Unknown
26626625
GWAS catalog
MYO9A Unknown
27259756
GWAS catalog
SLC18A3 Unknown
27590285
Disgenet
SLC25A1 Unknown — GenCC
SLC5A7 Unknown
27569547
GWAS catalog
SYT2 Unknown
25192047
GWAS catalog
VAMP1 Unknown
28253535
GWAS catalog
PRESYNAPTIC CONGENITAL MYASTHENIC SYNDROMES
98914
AGRN Unknown
19631309 20301347 22205389
Orphanet
CHAT Unknown
20301347
Orphanet
COL13A1 Unknown
26626625
Orphanet
MYO9A Unknown
27259756
Orphanet
SLC18A3 Unknown
27590285
Orphanet
SLC25A1 Unknown — Orphanet
SLC5A7 Unknown
27569547
Orphanet
SNAP25 Unknown
25381298 25792100
Orphanet
SYT2 Unknown
25192047
Orphanet
VAMP1 Unknown
28253535
Orphanet