Developmental regression

Disease Term Disease ID Gene Symbol References
Developmental regression C1836830 AARS1
ACOX1
ADAR
AGA
AHCY
ABCD1
FAS
ARSA
ASPA
ATP6V1A
ATP7A
BMPR1A
BRAF
C4A
CACNA1A
CACNA1B 25296916, 30982612
CAD
CHD2
LYST
TPP1
CLN5
CLTC
CCR1
CTNNB1
CYP27A1
DARS1
DDB2
DNM1
DNMT3A
ECHS1
EEF1A2
EIF2B1
ELN
EP300
CLN8
EPRS1
ERCC2
ERCC3
ERCC4
ERCC5
FGF12
FOXG1
FOLR1
FTL
GABRB1
GABRB2
GABRD
GABRG2
GALC
GBA
GCDH
GFAP
GLA
GM2A
GNAO1
GNB1 27108799
GRIN2B
GRIN2D
MSH6
GTF2I
HSD17B10
HTT
HEXA 27896118, 23852624, 22723944, 1532289, 9150157
HLA-B
HNRNPH2
IL10
IL12A
KCNA1
KCNA2
KCNB1
KCNC1
KRAS
LIMK1
EPCAM
MECP2
MEFV
MLH1
MSH2
ATP6
COX1
COX2
COX3
ND1
ND2
ND3
ND4
ND5
ND6
TRNF
TRNH
TRNK
TRNL1
TRNQ
TRNS1
TRNS2
TRNV
TRNW
NAGA
NAGLU
NDP
NDUFB8
NDUFS1
NDUFS2
NDUFV1
NDUFS4
NDUFV2
NEUROD2
NOTCH3
NTRK2
PEX1
PEX6
PEX7
PEX10
PEX12
PEX13
PEX14
PHYH
PIGA
PIK3CA
PMS1
PMS2
POLG
PPP3CA
PSAP
PTEN
PEX19
PEX2
PEX5
PCYT2 31637422, 22764088
RANBP2
RFC2
RPS20
SCN1A
SCN1B
SCN2A
SCN3A
SCN8A
SCN9A
SDHA
SDHB
SDHD
SGSH
ST3GAL3
SLC1A2
SLC2A3
SLC6A1
SON
SPTAN1
STAT4
CDKL5
STXBP1
SURF1
TBCD
TBCE
TGFBR2
TK2
TLR4
TTPA
TUFM
TYROBP
UBTF 28777933
CLIP2
WFS1
XPA
XPC
YWHAG
NUP214 30758658
AAAS
AP3B2
KLRC4
PLA2G6
PEX3
CASK
CDK13
PEX11B
SYNGAP1
SYNJ1
ST3GAL5 25529582
SGPL1
SLC5A6 29669219
EIF2B4
EIF2B3
EIF2B2
EIF2B5
BAZ1B
PIGQ
AIFM1
NRXN1
PEX16
PMPCB
GABBR2
GTF2IRD1
SCO2
IRX5
TUBB4A 24785942
SLC30A9
SLC9A6
DEAF1 28940898, 28213671
RNASEH2A
FARS2
CNPY3
CPLX1
POLR3A
ERLIN2
TREX1
PNKP
NTNG1
CNKSR2
TRAK1
FAN1
IQSEC2
CIC
RHOBTB2
ARHGEF9
VPS13A
PLCB1
AGTPBP1
SZT2
SYNE1
ADNP
ETHE1
SLC39A14
NUP62
FRRS1L
NDUFAF3
SAMHD1
SIN3A
PARS2
NECAP1
AUTS2
ZBTB20
HIBCH
BSCL2
TBL2
CYFIP2
MLH3
COQ2
ANKRD11
GMPPA
TRAPPC12
GLRX5
PIGP
MBTPS2
ACTL6B
PIGT
TRAPPC2L
WWOX
ERAP1
ADA2
TREM2
ADPRS 30100084
CLN6
TMLHE
SLC29A3
ACER3
PEX26
VAC14
NAXD
NGLY1
LMBRD1
COQ8A
PDSS2
TBC1D24
SLC12A5
PCDH19
HACE1
KCNT1
GUF1
TRAPPC11
IFIH1
IRF2BPL
SEMA4A
ARV1
NMNAT1
MRPS34
FA2H
GNPTAB
CARS2
RNASEH2B
ROGDI
NARS2
SLC25A22
UBA5
L2HGDH
DHDDS
NAA15
COASY
CLPB
TRIM8
ISCA1
ADGRV1
RNASEH2C
COA8
GFM2
COG8
SERAC1
PIGY
LYRM7
MTRFR
TBCK
STX1B
NUS1
EARS2
NAXE
TANGO2 26805781
DNAJC19
NDUFAF6
IL23R
SIK1
KCTD7
SPATA5
ARX
IBA57
PHACTR1
EBF3
SLC13A5
SLC25A42
SUMF1
UBAC2
KCNT2
HCN1
NDUFS7
BOLA3
CISD2
SDHAF1
IL12A-AS1