Disease Term Disease ID Gene Symbol References
Sensorimotor neuropathy C1112256 AHCY
ATP1A1
KIF1A
COL6A1
DNM2
TYMP
GALC
B4GALNT1
GJB1
HADHA
HADHB
IFRD1
IGHMBP2
KIF5A
LAMA2
MME
MPV17
MPZ
MRE11
ATP6
ND1
ND2
ND3
ND4
ND5
ND6
TRNK
TRNL1
TRNV
TRNW
NEFH
NEFL
OPA1
PDK3
PDYN
PEX6
PEX7
PHYH
POLG
PPP2R2B
DNAJC3
RFC1
SPG7
TTR 29941560
UCHL1
XPA
XRCC1
PLA2G6
AIFM1
SPTLC2
DNM1L
TFG
SPTLC1
AFG3L2
CLP1
PNKP
RPIA
SETX
CLCF1
PIK3R5
AMACR
ABHD12 24697911, 29571850
SACS
BSCL2
RRM2B
DHH
DARS2
IARS2
NGLY1
TDP1
SCYL1
GBA2
SLC52A2
SH3TC2
FDX2
RNASEH1
HNRNPUL2-BSCL2