Disease Term Disease ID Gene Symbol References
Peripheral demyelinating neuropathy C0270922 ACO2
ADAR
TYMP
ERCC2
ERCC3
ERCC4
ERCC5
HARS1
MECP2
ATP6
ND1
ND2
ND3
ND4
ND5
ND6
TRNK
TRNL1
TRNV
TRNW
POLG
POLR2F
DNAJC3
RFC1
SOX10
BAG3
RNASEH2A
AFG3L2
TREX1
ZFYVE26
SAMHD1
ABHD12 24697911
SACS
RRM2B
PRX 22847150, 15197604, 11157804, 21079185, 26059842
SPTBN4
IFIH1
RNASEH2B
RNASEH2C
FGD4
RNF168