Disease Term Disease ID Gene Symbol References
Neonatal Hypotonia C2267233 ABAT 10407778
ACOX1
ACTA1
BIN1
ATP2B3
DST
BRAF
CFL2
CHKB
CHRNA1
CHRNB1
CHRND
CHRNE
CNTN1
COL6A1
COL6A2
COL6A3
COL12A1
CPT2
DLAT
EEF1A2
EGR2
FKTN
FGFR1
FOXG1
FLNA
GATA6
GLS
GRIA4
H1-4
HADH
HNF4A
HNRNPK
HSD17B4
IGHMBP2
IPW
ITGA7
KCNQ1
LAMA2
LETM1 14706454
LMNA
MAG
MECP2 19559301
MTM1
TRNE
MUSK
MYBPC1
MYH7
NDN
NEB
NFIX
NONO
OCRL
PEX1
PEX6
PEX10
PLOD1
PRKAR1A
PRPS1
PURA
PEX2
RAPSN
RYR1
ATXN7
SCN4A 15596759, 19065518
SDHA
SDHD
SFTPC
SLC6A8
SLC16A2
SNRPN
SOX10
ABCC8
SYT1
TAF6
HNF1A
TGFB3
TNNT1
TPM2
TPM3
TUFM
MKRN3
KAT6A
PDHX
KMT2D
CNTNAP1 27668699
CASK
HERC2
AP4M1
TRIP11
PEX16
MED12
SLC12A6
TSFM
MKRN3-AS1
KLHL41
POMT1
TBR1
AP4B1
PRDM5
MAPK8IP3
CAMTA1
AP4E1
NPAP1
SH2B1
AHDC1 24791903
PGAP2
PCLO
RRM2B 19138848
MRPS16
COQ4
IER3IP1
CCDC174
KCNK9
UPB1
TUBA8
TMCO1
MAGEL2
PHIP
VPS53
PEX26
CCDC88A
ALG1
LMOD3
PDSS2
LYRM4
SELENON
GATAD2B
ARID1B
PIEZO2
IFIH1
NSD1
FKRP
GNPTAB
SLC25A22
PGAP1
CLPB
POMK
UQCC2
MEGF10
NKX6-2
ZNF469
SHANK3
TIMM50
CHST14 20842734
EARS2
DNAJC19
GLYCTK
NADK2
IRAK1BP1
PWAR1
VPS13B
ARX
EBF3
KANSL1 22544367, 22544363
SUMF1
SNORD115-1
NEXMIF
KIF7
ERCC6L2
ALG11
SDHAF1
CRPPA
PWRN1
SNORD116-1