Disease Term Disease ID Gene Symbol References
Myasthenias C0947912 ACADL
CASR
CHAT
CHRNA1
CHRNE
COL13A1
DPAGT1
GFPT1
GNA11
KRT5
KRT14
MYO9A
PLEC
RYR1
SCN4A
SLC18A3
SLC25A1
SNAP25
VAMP1
COLQ
ACAD9
GMPPB
SLC5A7
ALG2
SYT2
ALG14
DOK7
AGRN
Familial infantile myasthenia C0393929 CHAT 21786365, 26080897, 12756141, 11172068, 28497657
SLC5A7 27569547
MYASTHENIA, FAMILIAL INFANTILE, 1 C1853949 CHRNE
Myasthenia Gravis C0026896 ABCF1 23055271
FAS 15169653
ATP6V1G2 26562150
CFB 23055271, 6605118
C2 23055271
CYP21A2 23055271
GABBR1 23055271
HLA-A 26562150, 23055271
HLA-B 6605118, 6402089
HLA-DPB1 17956852
HLA-DQA1 23055271
HLA-DQA2 23055271
HLA-DRB1 25643325
MICB 23055271
MSH5 23055271
MUSK 22981737, 27119269
NFKBIL1 26562150
NOTCH4 23055271
POMC 4323972
POU5F1 23055271
RBBP8 26562150
TCF19 23055271
PRRC2A 23055271
GPANK1 23055271
TNFRSF11A 26562150, 25643325
STK19 23055271
SEMA5A 26562150
HCG9 23055271
TNIP1 23055271
TSBP1 23055271
TRIM31 23055271
PTPN22 23055271
POLR1H 23055271
BTNL2 23055271
VARS2 23055271
GPSM3 23055271
RNF39 23055271
MUCL3 23055271
PSORS1C1 23055271
SFTA2 23055271
MUC21 23055271
LINC00243 23055271
HCG18 23055271
HCG17 23055271
MSH5-SAPCD1 23055271
TSBP1-AS1 23055271
Myasthenia Gravis, Generalized C0751339 FAS 15169653
CFB 6605118
HLA-B 6402089, 6605118
HLA-DPB1 17956852
MUSK 22981737, 27119269
POMC 4323972
Myasthenia Gravis, Ocular C0751340 FAS 15169653
CFB 6605118
HLA-B 6402089, 6605118
HLA-DPB1 17956852
MUSK 27119269, 22981737
POMC 4323972
Adult-onset myasthenia gravis 391490 TNFRSF11A
CTLA4
HLA-DQA1