Autism

Disease Term Disease ID Gene Symbol References
NON RARE IN EUROPE: Autism 106 RAB39B
EN2
SHANK3
NLGN3
NLGN4X
MECP2
MET
CNTNAP2
AUTS2
GABRB3
NRXN1
EIF4E
SLC9A9
CHD8
SHANK2
PTCHD1
Autistic Disorder C0004352 AARS1
ABAT 15830322
ACADSB 17883863
ASIC2 17376794
ADA 11354825
ADM 12579522
ADRB2 17199132
ADSL 15471876
AKT1
ALDH1A3
APC 8071957, 17221838
AQP4 18435417
AR 19167832
STS
ARVCF
ASMT 17505466
RERE
ATP6V1A
ATRX
KIF1A 30559488
AVP 8570775
AVPR1A 16520824
BCL2 20375269, 11814262
BDNF 17349978, 20662941
BRCA2
BTD 13680408
C4B 15694999, 20452682
CACNA1A 25735478
CACNA1B
CACNA1C 15454078
CALCA 11357950
CAMK2G
CAT 15205966
CDH9 19404256
CDH10 19404256
CHD4 30559488
CHRNA1
CHRNA4 15046869
CHRNA7 15046869
CHRNB2 15046869
CLTC
COL4A2
COL6A1
COMT 16917939
CP 15363659
CREBBP
CTNND2 22843504
CYP19A1 21359227
DAB1 15820235
DAO 17629951
ACE 27082637
DHCR7 14659996
DHFR 17597297
DLX1 18728693
DLX2 18728693
DNM1
DPYD 21114665
DRD1 18205172
DRD3 19058789
EEF1A2
EGF 17626784
EGR2 19000991
EIF4E
ELN
EN2 19186208, 15024396, 20523082, 16935268
EP300
ERBB4 22843504
ERG 22843504
EXT1 12032595
BPTF
FBN1
FER 22935194
FGF12
FGF14
FGFR1
FLG 16444271
FMR1 14755444, 18621663, 15000256, 9806479, 20425835
GABBR1 19002745, 16770606
GABRA1 18821008
GABRA2 18821008
GABRA3 18821008
GABRA4 16770606, 16080114
GABRA5 17353214
GABRB1 16770606, 16080114
GABRB2
GABRB3 9545402, 11920158
GABRD
GABRG2
GAD1 17918742
GAMT
GATM
GHR 17547689
GJA1 18435417
GJA5
GJA8
GJB2
GLO1 15386471
GP1BB
GPX1 19195803
GRIA1 11706102
GRIK2 20442744, 11920157
GRIN2A 15830322
GRIN2B 23934111
GRIN2D
GRM8 12676915
GSTM1 16472391
GSTP1 17404132
GTF2I
GUCY1A2 22843504
GZMB 18762240
HDLBP 19365831
HLA-A 16720216
HLA-DRB1 8765331
HOXA1 11091361
HOXD11 19540081
HRAS 8098541
HTN1 19367726
HTR1B 19038234
HTR1D 19038234
HTR2A 17280648
HTR3A 19184136
HTR5A 17203304
IFNG 16360218
IGF1 17547689
IGF2 17547689
IGFBP3 17547689
IL1RN 11803234
IL2 18929414, 16360218
IL4 16360218
IL5 16360218
IL6 8964908
IL10 16360218
IL13 16360218
IL15 18929414
INPP1 14627686
ITGA4 18348195
ITGB3 17203304, 16724005, 16721604
KCNA2
KCNB1
KCND2 29581270
KCNMA1 16946189
LAMB1 15523497
LASP1 17376794
LEP 17347881
LHX1
LIMK1
MAOA 20573161, 12919132, 18361446
MAOB 19221690
MARK1 18492799
MCC 8071957
MECP2 15211631, 19921286, 18621663
MEF2C 19131610
MEIS2
MET 17053076, 21328570
MIF 18676531
KMT2A
MSNP1 19404256
COX1
COX2
COX3
MTF1 15446388
MTHFR 19267885
ND1
ND4
ND5
ND6
TRNF
TRNH
TRNL1
TRNQ
TRNS1
TRNS2
TRNW
MYO1D 17376794
NAGA
NAGLU
NDP
NELL1 22935194
NF1 15389774
NHS
NONO
NOS2 18563708
NPAS2 17264841
NRCAM 17106428, 18664314
NTF3 16289943
NTF4 11357950, 16289943
NTRK2 20662941
NR4A2 516625
OPHN1
OTX2
OXT 15288368, 18775368
OXTR 15288368, 17893705, 21082655, 18207134, 17383819, 15992526
PAH
SERPINE1 19360663
CNTN3 18621663
PRKN 19404257
PAX6 18322702
PC 22843504
PDE4A 18090323
PDE4B 18090323
PDE4D
PECAM1 17509538
PER1 17264841
PIK3CA
PIK3CG 14627686
PITX1 18053270
PKP2 15489853, 16549640, 22781308
PLA2G4A 15301788
PLAUR 21328570, 19360663
POLG 19478085, 12210792, 21880868, 28837072, 23545419, 20220442
POMC 8570775
PON1 16027737, 22490277, 16297937
PPL 22843504
PPP3CA
PRF1 18762240
PRKAR1A
PRKCB 16027742
MAPK3 30559488
PRL 18207134
PRLR 18207134
RELN 20442744, 11317216, 11814262
PTEN 18759867, 19265751, 11496368, 22595938, 22252256, 19211884
PTGS2 18579107
RAC1 22843504
RAD21
REV3L
RFC2
ROBO1 18270976
ROBO2 18270976
RORA 20375269, 21359227
RPL10 16940977
RREB1
RYR1
SCN1A
SCN2A
SCN3A
SCN7A 18621663
SCN8A
SCT 12732234, 15272612, 16168596, 15206007
SDHB
SDHC
SDHD
SIM1
SKI
SLC1A2
SLC1A3 11706102
SLC6A4 16721604, 17203304, 20649385, 17280648, 9152989
SLC6A8 18461508
SLC19A1 16917939, 20468076
SLC22A3 22843504
SNRPN
SOX2
SOX3
SOX11
STATH 19367726
CDKL5
STX1A 18593506
STXBP1
TBX1
HNF1B
TCF20
TCN2 16917939
TDO2 14755447
TF 15363659
TNFRSF1B 16139734
TRPS1
TSC1 18067135
TSC2 14627686
HIRA
UBE2H 14639049
UBE3A 11543639, 19404257, 20609483
UFD1
VIP 17521630
VLDLR 15820235
CLIP2
WNT2 19895723, 11449391
XDH 15205966
XPC 9804340
YWHAG
PCGF2
ZBTB16 22843504
CSDE1 24189344, 31579823
ALMS1
ALDH5A1
AP3B2
ST8SIA2 20663923
LZTR1 25961944
KDM5C 18203167
SMC1A
TRRAP 28628100, 30424743
FOXN1
KCNAB2
SLC25A12 18348195, 15056512
HESX1
NRP2 17427189
SYNGAP1 20531469
SYNJ1
CACNA1H 16754686
MBD4 19921286
TAF1C 22843504, 20663923
BRSK2 30879638, 28135719
RNF8 18621663
BAZ1B
SEMA5A 17028446
SMC3
DLGAP2 20531469
NRXN3 22209245
NRXN1 18621663, 17322880, 18057082, 20157312
NRXN2
LIPG 22843504
PIGL
RPH3AL 22843504
GABBR2 19002745
GTF2IRD1
SEC24C
SEMA3E
DOCK4 19401682
HDAC4
CUL7 25961944
FARP2 19365831
ARNT2
SLC23A2 22843504
MED12
BCKDK
SLC9A6
SEC23B
TBR1 23160955
RAI1
KDM5B 24307393
ZMYND11 25217958
IL1RAPL1 18801879, 20437600
MAN1B1
POU6F2 20663923
CNKSR2
NLGN1 19404257
TRAK1
DHX30
SHANK2 20531469, 20473310
RIMS1 25961944
ZNF292 29904178
VWA8 20663923
IQSEC2
PLXND1
PASK 19365831
SYNE2 22843504
ASTN2 19404257
SATB2
SZT2
MED13L
ADNP 24531329
CADM1 18957284
GSPT2
NIPBL
SIN3A
SH2B1
PARS2
NECAP1
CNTNAP2 18621663, 18179894, 21310003, 22843504, 20157312
AUTS2
RAB11FIP5 18384058
SEZ6L2 19242545
AGO1 29346770
TBL2
NBEA 12746398, 20071347
CYFIP2
SND1 20442744
FOXP1
DISC1 17579608, 20002455
STK39 18348195
DLL1 31353024
STXBP6 20071347
ANKRD11
SLC40A1 15446388
SHANK1 18272690
FAM135B 22935194
RLIM 25735484
ACTL6B
TRIM33 24189344
FBXO40 19404257
UPB1 18853477
WWOX
MBD3 19921286
SNTG2 17292328
NLGN3 12669065, 18621663
TMCO1
ROBO4 18270976
MAGEL2 24076603
RBFOX1 17503474, 18621663
AHI1 18782849
DYM
CDKAL1 22843504
PHIP
SETD5
TMLHE
SLC35C1
SLC22A15 22843504
CHD7
YEATS2 22843504
HDAC8
KMT2E 31079897
FMN2
ATP10A 12851639
PRR12
NLGN4X 12669065
PCDH10 18621663
CHD8 22495309, 23160955, 25961944, 24998929, 26789910
WDFY4 30559488
PRDM16
ROBO3 18270976
NSD1 18001468
COP1 19404257
ARV1
UPF3B 22609145, 19238151, 17704778
PCDH15 22843504
GNPTAB 20880125, 16465621, 25606425
GALNT14 22843504
SRD5A3
TBL1XR1 23160955
EHMT1
ALG13
UBA5
DHDDS
RASSF5 22843504
IMMP2L 19401682
KAT8 31794431
TRAF7
SHANK3 18621663, 26027926
DIXDC1 27752079
NAV3 22843504
DNER 22843504
CADPS2 17380209
FOXP2 17033973, 15108192
CSMD3 18270536
TMEM132B 22843504
SORCS1 22843504
NUS1
RAB39B 20159109
AGAP1 15892143
PARD3B 22843504
TPH2 15768392
PROKR2
IRAK1BP1
PTCHD1 21091464
MACROD2 20663923, 22843504
GPR155 17519220
CNTN4 18349135
ZNF827 22843504
JAKMIP1 17519220
HTR3C 19035560
SCAMP5 20071347
PLD5 20663923
FLCN
SLC39A11 22843504
DIPK2A 18621663
REEP3 17290275
JMJD1C 17290275
SDK1 22935194
SLC13A5
LAMA1 22843504
SLC9A9 18621663
FLG-AS1 16444271
HCN1
ZNF713 25196122
MIR106B 20374639
MIR23A 20374639
PKMP1 24189344
KLLN
MACROD2-AS1 22843504
SLC44A3-AS1 22843504
SCN1A-AS1
Autistic behavior C0856975 ACADL
AGTR2
ANK3
RERE
ATP1A3
CHD1
CHD2
AP2M1 31104773
CLCN4
COL11A1
CTNNB1
DDX3X
DLG3
DMD
DNM1
DNMT3A
DPYD
EGF
EXT2
ACSL4
BPTF 28942966
FGF12
FOXG1
FMR1
AFF2
MTOR
GABRB3
GABRD
GABRG2
GDI1
GNAO1
GNAQ
GRIK2
GRIK4
GRIN1
GRIN2B
HCFC1
HIVEP2
HNMT
HNRNPH2
NDST1
KCNA1
MECP2
MEF2C
MEFV
MEIS2
NDP
NEUROD2
PAK3
PIGC
POLA1
POU3F3 24550763
PPP2CA
PPP2R1A
MAPK10
PTEN
RALA 30500825
RORA
RPS6KA3
RPS23
CLIP1
SARS1
SCN1A
SCN1B
SCN2A
SCN9A
SGSH
ST3GAL3
SIM1
SLC6A1
SLC6A8
SON
SRY
CDKL5
STXBP1
VAMP2 30929742
SYN1
SYP
TAF1
TBX2
TCF4
TCF20
TSPAN7
TRIO
UBTF
EZR
WFS1
ZNF711
ZNF41
PCGF2
TUSC3
USP9X
NAA10
TRRAP
PRSS12
PPM1D
CASK
CDK13
CRADD
SYNGAP1
AP1S2
HERC2
BRSK2 30879638
PIGQ
AIMP1
TRIP12
NRXN1 22617343, 23533028
MED23
ARHGEF6
PIGL
TECR
FRMPD4
MED12
MED13 29740699
HUWE1
WARS2
COG5
DEAF1 28940898
POMT1
CTCF
TBR1
STAG2
KDM5B
TLK2
MID2
IL1RAPL1
MAN1B1
PNKP
CNKSR2
MAST1
TNIK
ZNF423
IQSEC2
POGZ
KDM6B
PACS2
CAMTA1
CUX2 23934111
WASHC4
SPECC1L
ADNP
SLC35A3
FRRS1L
FTSJ1
SIN3A 30267900
SH2B1
AUTS2
ZBTB20
CNTN6
PGAP2
DCPS
SETD2
ANKRD11
HOOK2
SLC45A1
KMT5B
CRBN
PIGP
TMEM216
RSRC1
TMEM138
OTUD6B
NLGN3
CNNM2
AHI1
CC2D1A
PIGG
NSUN2
MSTO1
LINS1
SETD5
ASXL2
CHD7
PIGV
PACS1
MCTP2
ASH1L
FMN2
C12orf4
ZMIZ1
THOC2
SNX14
GATAD2B
TBC1D24
ARID1B 22426309, 26350204
HECW2
PCDH19
CC2D2A
ZNF462 14564155
KMT2C
BCORL1
STEEP1
TMEM237
UPF3B
RSRC2
MBOAT7
TMEM231
CARS2
SLC25A22
FBXO31
TM4SF20
ALG13
ZC3H14
TRPM3 29156220, 31278393
PGAP1
EDC3
NAA15
CEP290
ASXL3
LMAN2L
TRIM8
MED25
TRAPPC9
ADGRV1
RNF135
SLC9A7
PIGO
PIGY
SHANK3
PGAP3
FOXP2
STX1B
RAB39B
METTL23
PTCHD1
B3GALNT2
SIK1
ARX
TET3
EBF3
PIGW
NEXMIF
ZNF81
HCN1
USP27X