Disease Term Disease ID Gene Symbol References
Spastic tetraparesis C0575059 ADAR
ABCD1
ATP6V1A
AUH
CYP27A1
EIF2S3
GM2A
GSS
KCNJ6
KCNQ2
MECP2
MOCS1
ATP6
PAFAH1B1
PRPS1
PSAP
PSEN1
PCYT2 31637422, 22764088
SDHA
SDHB
SDHD
SLC18A2
TBCE
SLC35A2
ITM2B 10781099
STAMBP
POLR3A
ERLIN2
EXOSC8
NUP62
PSAT1
TRAPPC4 31794024
LIPT1
PRDM8
ALS2
PRUNE1
IFIH1
REEP1
FA2H
L2HGDH
COA8
MFSD2A
LYRM7
EARS2
WDR62
LIPT2
SDHAF1