Congenital myasthenic syndrome

Disease Term Disease ID Gene Symbol Classification References Source
CHRNA1-RELATED CONGENITAL MYASTHENIC SYNDROME
CHRNA1 Unknown — ClinVar
CONGENITAL MYASTHENIC SYNDROME
MONDO:0018940
AGRN Causal — ClinVar
CHAT Causal — ClinVar
CHRNA1 Causal — ClinVar
CHRNE Causal
10211467 10962020 11030414 12141316 12417530 17853947 19064877 21150643 21175599 22592360 22678886 25264167 7531341 7538206 8232384 8755487 8957026
ClinVar GWAS catalog
COLQ Causal — ClinVar
DOK7 Causal — ClinVar
GFPT1 Causal — ClinVar
LAMB2 Causal — ClinVar
RAPSN Causal — ClinVar
SCN4A Causal — ClinVar
ALG14 Unknown — ClinVar
ALG2 Unknown — ClinVar
CHD8 Unknown — GenCC
CHRNB1 Unknown — ClinVar
CHRND Unknown — ClinVar
DPAGT1 Unknown — ClinVar
GMPPB Unknown — ClinVar GenCC
LRP4 Unknown — ClinVar
MUSK Unknown — ClinVar
MYO9A Unknown — ClinVar
PLEC Unknown — GenCC
PREPL Unknown — ClinVar
RPH3A Unknown — GenCC
SLC25A1 Unknown — ClinVar
SLC5A7 Unknown — ClinVar
CONGENITAL MYASTHENIC SYNDROME 10
MONDO:0009690
DOK7 Causal — ClinGen ClinVar GenCC
AGRN Unknown — ClinVar
CONGENITAL MYASTHENIC SYNDROME 11
MONDO:0014588
RAPSN Causal — ClinVar GenCC
CONGENITAL MYASTHENIC SYNDROME 12
MONDO:0012518
GFPT1 Causal
21310273 23794683 29905857
ClinGen ClinVar Disgenet
CONGENITAL MYASTHENIC SYNDROME 13
MONDO:0013883
DPAGT1 Causal
22742743
CTD ClinVar
CONGENITAL MYASTHENIC SYNDROME 14
MONDO:0014543
ALG2 Causal — ClinVar GenCC
CONGENITAL MYASTHENIC SYNDROME 15
MONDO:0014542
ALG14 Causal — ClinVar GenCC
CONGENITAL MYASTHENIC SYNDROME 16
MONDO:0013620
SCN4A Causal — ClinVar GenCC
CONGENITAL MYASTHENIC SYNDROME 17
MONDO:0014578
LRP4 Causal — ClinGen ClinVar GenCC
CONGENITAL MYASTHENIC SYNDROME 18
MONDO:0014590
SNAP25 Causal
25381298 29056461
ClinVar Disgenet
CONGENITAL MYASTHENIC SYNDROME 19
MONDO:0014745
COL13A1 Causal — ClinVar GenCC
CONGENITAL MYASTHENIC SYNDROME 1A
MONDO:0011088
CHRNA1 Causal — ClinVar GenCC
CONGENITAL MYASTHENIC SYNDROME 20
MONDO:0014939
SLC5A7 Causal — ClinVar GenCC
CONGENITAL MYASTHENIC SYNDROME 21
MONDO:0014983
SLC18A3 Causal — ClinVar GenCC
CONGENITAL MYASTHENIC SYNDROME 2A
MONDO:0014581
CHRNB1 Causal — ClinGen ClinVar GenCC
CONGENITAL MYASTHENIC SYNDROME 2C
MONDO:0014582
CHRNB1 Causal
33296147 10562302
ClinGen ClinVar GWAS catalog
CONGENITAL MYASTHENIC SYNDROME 3A
MONDO:0014583
CHRND Causal — ClinVar GenCC
CONGENITAL MYASTHENIC SYNDROME 3B
MONDO:0014584
CHRND Causal — ClinVar GenCC
CONGENITAL MYASTHENIC SYNDROME 3C
MONDO:0014585
CHRND Causal — ClinVar GenCC
CONGENITAL MYASTHENIC SYNDROME 4A
MONDO:0011600
CHRNE Causal — ClinVar GenCC
CONGENITAL MYASTHENIC SYNDROME 4B
MONDO:0014586
CHRNE Causal — ClinVar GenCC
CONGENITAL MYASTHENIC SYNDROME 4C
MONDO:0012157
CHRNE Causal — ClinVar GenCC
GFPT1 Causal — ClinVar
MUSK Causal — ClinVar