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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
PENA SHOKEIR SYNDROME, TYPE 1 MUSK Unknown — CTD —
PENA-SHOKEIR SYNDROME TYPE I ACTA1 Unknown — Disgenet
ADSS1 Unknown — Disgenet
ALDH5A1 Unknown — Disgenet
ASAH1 Unknown — Disgenet
ASCC1 Unknown — Disgenet
ASPM Unknown — Disgenet —
ATP2B3 Unknown — Disgenet
AVEN Unknown — Disgenet
BLTP1 Unknown — Disgenet —
CHRND Unknown — Disgenet
CHRNG Unknown — Disgenet
CNTNAP1 Unknown — Disgenet
DOK7 Unknown — Disgenet —
DQX1 Unknown — Disgenet —
DYNC1H1 Unknown — Disgenet
EARS2 Unknown — Disgenet
EXOSC3 Unknown — Disgenet
FBLN1 Unknown — Disgenet
FBN2 Unknown — Disgenet
GBE1 Unknown — Disgenet
GCN1 Unknown — Disgenet —
GFRA4 Unknown — Disgenet
GLDN Unknown — Disgenet —
IQSEC3 Unknown — Disgenet
KIF21A Unknown — Disgenet
LGI4 Unknown — Disgenet
MAGEL2 Unknown — Disgenet —
MAGI3 Unknown — Disgenet
MUSK Unknown — Disgenet —
MYOD1 Unknown — Disgenet
NAGA Unknown — Disgenet
NALCN Unknown — Disgenet
NUP88 Unknown — Disgenet
PIEZO2 Unknown — Disgenet —
PRG4 Unknown — Disgenet —
PRICKLE1 Unknown — Disgenet
RAPSN Unknown — Disgenet —
ROR2 Unknown — Disgenet
RYR1 Unknown — Disgenet
RYR3 Unknown — Disgenet
SCN4A Unknown — Disgenet
SCN5A Unknown — Disgenet
SCN8A Unknown — Disgenet
SETBP1 Unknown — Disgenet —
SLC18A3 Unknown — Disgenet
SPAG16 Unknown — Disgenet —
TMPO Unknown — Disgenet
TUBA1A Unknown — Disgenet
UNC50 Unknown — Disgenet —
VPS13D Unknown — Disgenet —
All52 Causal0 Unknown52