Disease Term Disease ID Gene Symbol References
Cerebellar Hypoplasia C0266470 ABAT
AHCY
ASNS
ATP2B3
ATP5F1A
ATP6V1A
ATP6V1E1
BUB1B
CACNA1A
CDC42
CDK5
CENPE
CENPF
COL3A1
COL4A1
CSF1R
CTNNA2
DAG1
DHFR
DKC1
ERCC1
ERCC6
ERF
FKTN
FGFR1
FGFR2
FLG
FLNA
GJB2
GLI3
GPX4
BRF1
ITPR1
L1CAM
LAMB1
MAB21L1 30487245
MUSK
MYO5A
NDUFA6
NFIX
NONO
OPHN1
PAFAH1B1
PARN
CHMP1A
PIGA
PI4KA
PLG
PMM2
MAP2K2
RELN
RAC1
RBBP8
SIX3
SLC1A3
SLC25A1
SMARCB1
SMARCE1
SON
TERC
TERT
TWIST1
SLC35A2
VLDLR 16080122, 18364738
VRK1
WNT1
RNF113A
USP9X
RBM10
ARID1A
EOMES
PLA2G6
CASK
GPAA1
DPM2
CACNA1G
LARGE1
ADGRG1
ATG5
CEP104
KIAA0586
FIG4
KIF14
HDAC6
GPHN
STUB1
RXYLT1
TUBB3
POMT1
YME1L1
STAG2
GJB6
AFG3L2
B4GAT1
CIT
POLR3A
MAN1B1
USP18
TREX1 26938784
WDR37
RAB3GAP1
MAST1
NMNAT2 23082226, 31136762
MAPK8IP3
PMPCA
RHOBTB2
KATNIP
CAMTA1
BICD2
MACF1
ATP6V0A2
C2CD3
PHGDH
TINF2
DISC1
PCLO
CCDC22
GPSM2
GMPPB
POMT2
SLC25A24
PSAT1
SEPSECS
KCTD3
MBTPS2
PIGT
RTEL1
INPP5K
NDE1
PIGG
MKS1
DYNC2I1
MSTO1
CEP55
ATAD3A 27640307
CWF19L1
POMGNT1
FLVCR2
PACS1
FRMD4A
VAC14
POLR3B
ERMARD
RARS2
SNX14
WDR35
IFT80
EPG5
SLC25A19
PIEZO2
ROBO3
SIL1
ACD
FKRP
CARS2
ROGDI
DYNC2H1
CSPP1
TCTN2
COASY
TSEN2
TRAPPC9
ATRIP 26938784
KIAA1109
POMK
TMEM107
MFSD2A
POMGNT2
ATCAY
TUBGCP6
DYNC2I2
MARS2
TBCK
TP53RK
TOE1
WDR81
PIGU 31353022
B3GALNT2
CEP120
VPS13B
TAPT1
TUBB
PTF1A
TSEN54
FLG-AS1
ARSI
TUBB2B
CRPPA
OCLN