Disease Term Disease ID Gene Symbol References
Spastic Quadriplegia C0426970 ADAR
ADD3
ARSA
ASNS
AUH
CACNA1E
CLIC2
CSF1R
CTNNA2
CYB5A
CYB5R3
FUCA1
GAD1
GLB1
GRIA4
HSD17B10
KIF2A
KIF5C
MECP2
MOCS1
MOCS2
SIX6
PMP22 12427913
RANBP2
SCN2A
SCN3A
SLC1A4
SLC16A2
SOX2
SOX10
SPTAN1
ELOVL4
STXBP1
TBCD 27666370
TBCE
TUBA1A
PDHX
PLA2G6
DEGS1
SYNJ1
AP4M1
WARS2
TUBB3
RNASEH2A
CNPY3
LIAS
TREX1
COG2
RAB18
ANKLE2
KANK1
ATP13A2
AP4E1
SAMHD1
PHGDH
OSTM1
NDUFAF4
SEPSECS
PCDH12
OTUD6B
NDE1
VPS53
MRPS22
PRDM8
MCOLN1
ALS2
IFIH1
IRF2BPL
BCL11B
RNASEH2B
COLGALT1
COASY
SLC19A3
RNASEH2C
ISCA2
TBC1D20
GLYCTK
ARX
ASXL1
IBA57
NALCN