General Information of Disease (ID: DISV4V1Z)

Disease Name Autism
Synonyms autistic disorder; autism, susceptiblity to; autism spectrum disorder; autism; autism (disease); Kanner's syndrome; autistic disorder of childhood onset; childhood autism; infantile autism
Definition Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.
Disease Hierarchy
DISXK8NV: Autism spectrum disorder
DISV4V1Z: Autism
Disease Identifiers
MONDO ID
MONDO_0005260
MESH ID
D001321
UMLS CUI
C0004352
OMIM ID
209850
MedGen ID
13966
HPO ID
HP:0000717
SNOMED CT ID
408857007

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)
This Disease is Treated as An Indication in 2 Approved Drug(s)
Drug Name Drug ID Highest Status Drug Type REF
Aripiprazole DM3NUMH Approved Small molecular drug [1]
Risperidone DMN6DXL Approved Small molecular drug [2]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 408 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ZNF713 OT0RPYKI Limited Autosomal dominant [3]
ADSL OTSNJALL Limited Biomarker [214]
AGAP1 OTVX8835 Limited Genetic Variation [215]
AHI1 OT8K2YWY Limited Altered Expression [216]
ASTN1 OT23FQIB Limited Altered Expression [217]
CADPS2 OTV1FW0M Limited Genetic Variation [218]
CASK OT8EF7ZF Limited Genetic Variation [219]
CHD7 OTHNIZWZ Limited Genetic Variation [220]
CHP1 OTHTXN1A Limited Genetic Variation [221]
CPED1 OTJJPZOZ Limited Genetic Variation [222]
CUX2 OTDJTQAJ Limited Biomarker [223]
DCTN3 OTQOSUES Limited Genetic Variation [221]
DIPK2A OTL1DBIM Limited Biomarker [224]
DLD OT378CU9 Limited Biomarker [225]
DLGAP4 OTNELLIN Limited Biomarker [226]
DNAAF3 OT3OHO0O Limited Altered Expression [227]
DYNC1H1 OTD1KRKO Limited Genetic Variation [221]
EGR2 OTAVQ78J Limited Biomarker [228]
EPS8 OTZ6ES6V Limited Altered Expression [229]
FAM120C OT2DH1SN Limited Biomarker [230]
GNPAT OTF6LWPO Limited Biomarker [231]
GTF2I OTUYL1TQ Limited Genetic Variation [232]
HEPACAM OT1MJ51D Limited Biomarker [233]
HLA-DPB1 OTW8JHU2 Limited Genetic Variation [234]
IL1RAPL1 OTW3T4B2 Limited Biomarker [235]
KCND2 OTIFUVV7 Limited Biomarker [236]
LHX2 OTK61NP8 Limited Biomarker [223]
MAGED1 OT6EOLFC Limited Biomarker [237]
MAP2 OT6UYT3X Limited Genetic Variation [238]
MAPK8IP2 OTDUHLN0 Limited Biomarker [239]
MEF2C OTZGF1Y5 Limited Biomarker [240]
NEGR1 OT57ECW9 Limited Biomarker [241]
NRXN3 OTJ0I7HJ Limited Autosomal dominant [242]
OMA1 OT0JRVY7 Limited Altered Expression [227]
RAI1 OTKLQU00 Limited Biomarker [243]
RBM8A OT5SR6G0 Limited Genetic Variation [244]
RIT2 OTSNYG0D Limited Genetic Variation [245]
SATB2 OT2W80XC Limited Genetic Variation [246]
SPACA9 OTVRFX49 Limited Biomarker [247]
SPG21 OTMKJSYS Limited Biomarker [247]
TESC OTI8C76M Limited Genetic Variation [248]
TMLHE OTH4ZLJP Limited Biomarker [249]
TSC2 OT47LWI9 Limited Biomarker [250]
IQSEC2 OTYFRM4Q Disputed Biomarker [251]
NF1 OTC29NHH Disputed Genetic Variation [252]
TOR3A OT04YLXE Disputed Biomarker [253]
AGO1 OTD3R434 moderate Biomarker [254]
ARID1B OTILK3Q7 moderate Genetic Variation [255]
ATRX OT77RSQW moderate Altered Expression [256]
CDH15 OTJ1TO02 moderate Altered Expression [257]
CDH7 OTQEXCKU moderate Altered Expression [257]
CHL1 OT6E6E8P moderate Altered Expression [258]
CLIP2 OTSCIQIY moderate Biomarker [259]
CNTN4 OTULXVE0 moderate Biomarker [260]
CNTNAP1 OT5Y03EU moderate Genetic Variation [261]
CYFIP1 OTOBEH24 moderate Genetic Variation [262]
DHDDS OTVLYBUS moderate Biomarker [263]
DLX2 OTKC2DQ0 moderate Genetic Variation [264]
DPP6 OTWW3H0K moderate Biomarker [265]
EIF3A OTFABY9G moderate Biomarker [266]
HMGN1 OTSMGH99 moderate Genetic Variation [267]
HNF1B OTSYIC3T moderate Genetic Variation [268]
KCTD13 OTSKZ1KM moderate Biomarker [269]
LRRC4C OT5QI5EP moderate Biomarker [265]
MACROD2 OTNQCHC6 moderate Genetic Variation [203]
MCC OTQVI1EM moderate Biomarker [270]
NRXN1 OTJN1JQA Moderate Autosomal dominant [271]
NTNG1 OTF48IID moderate Genetic Variation [272]
NTNG2 OTTY88DL moderate Genetic Variation [272]
PCDHB4 OTF665E0 moderate Biomarker [257]
PTCHD1 OTFDLU5S moderate Biomarker [273]
RAB40B OTCA9ZF5 moderate Genetic Variation [274]
SEMA5A OTUOIOJV moderate Biomarker [275]
SHANK2 OTSQTPFQ moderate Genetic Variation [276]
SMARCA1 OT0Y6PTU moderate Biomarker [277]
STX1A OTSBUZB4 moderate Altered Expression [278]
SYNGAP1 OT41HVYQ moderate Biomarker [279]
TRIM33 OT0KS4J7 moderate Biomarker [280]
ABCA13 OTTHTUQN Strong Genetic Variation [281]
ACAD8 OT3JI5GB Strong Genetic Variation [282]
ACADSB OTDO6HBG Strong Biomarker [283]
ACE OTDF1964 Strong Genetic Variation [284]
ACP1 OTJ9CKLU Strong Genetic Variation [151]
ACSL4 OTI71MUJ Strong Genetic Variation [285]
ADA2 OTGCV24S Strong Biomarker [286]
ADARB1 OTGKSZEV Strong Altered Expression [287]
ADGRB3 OT1EWGRW Strong Biomarker [288]
ADNP OTEGICWR Strong Genetic Variation [289]
AGBL1 OT8NQLH0 Strong Biomarker [290]
AKAP1 OTIIB2JB Strong Genetic Variation [291]
AKAP8 OTK3EQAI Strong Biomarker [291]
AKAP8L OTM3ZHGU Strong Biomarker [291]
AMBRA1 OTY0YGT9 Strong Biomarker [292]
AMPD1 OTU17BCI Strong Genetic Variation [293]
AMY1A OT6G4B8O Strong Biomarker [294]
ANK2 OTWB4R1Y Strong Genetic Variation [295]
ANK3 OTJ3IRBP Strong Biomarker [296]
ANKH OTCN25R5 Strong Biomarker [49]
ANKRD11 OTV0V70M Strong Biomarker [297]
ANKS1B OT26DGM9 Strong Genetic Variation [298]
AP1S2 OTZHJFYI Strong Genetic Variation [299]
APBA2 OTXD8ID1 Strong Genetic Variation [300]
APC OTKV0TIK Strong Biomarker [301]
AQP4 OTA9MYD5 Strong Biomarker [89]
ARHGAP32 OTBWBGUB Strong Biomarker [302]
ARHGEF9 OTB1FLIW Strong Biomarker [303]
ARSI OTIANNWW Strong Biomarker [304]
ARX OTBGYH25 Strong Altered Expression [305]
ASL OTI2NGQR Strong Genetic Variation [214]
ASTN2 OTF0W2FJ Strong Biomarker [306]
ATOH7 OTUBW5PV Strong Genetic Variation [307]
ATP13A4 OTJYVW1I Strong Genetic Variation [308]
ATP2B2 OT1NPZ9T Strong Genetic Variation [309]
ATP8A1 OT2B7XBT Strong Altered Expression [310]
AUTS2 OTAEXHSC Strong Genetic Variation [311]
BANF1 OTP7Z38L Strong Genetic Variation [312]
BCAS2 OTRMF2WY Strong Genetic Variation [280]
BST1 OTAV5SE7 Strong Genetic Variation [313]
BTD OTJYTQ69 Strong Biomarker [314]
CADM1 OTRWG9QS Strong Genetic Variation [315]
CADM2 OT45PVKC Strong Genetic Variation [24]
CALB1 OTM7IXDG Strong Biomarker [316]
CALB2 OTSNMCG9 Strong Biomarker [317]
CAPS2 OT45M743 Strong Biomarker [318]
CARS1 OTOUZF6O Strong Genetic Variation [104]
CARS2 OTGLZOFP Strong Biomarker [319]
CAST OTBXZZGF Strong Biomarker [263]
CBLL2 OTB4AD3V Strong Genetic Variation [68]
CC2D1A OTVPU04K Strong Biomarker [320]
CCN6 OTRFHQ2Z Strong Biomarker [107]
CD5L OTPY4WQR Strong Biomarker [321]
CDH10 OTK3D5WP Strong Biomarker [322]
CDH8 OTS3SRZ6 Strong Biomarker [323]
CDH9 OTV9N5XK Strong Biomarker [324]
CELF4 OT4FS4F5 Strong Biomarker [325]
CELF6 OT111JZ3 Strong Genetic Variation [326]
CEP41 OTKZTBOX Strong Genetic Variation [327]
CHD4 OTBDEHDP Strong Biomarker [33]
CHD8 OTS7A6AF Strong Autosomal dominant [328]
CHURC1 OTCVNVQN Strong Biomarker [329]
CLIP1 OTTGAEJE Strong Biomarker [330]
CLSTN2 OT2PJYHX Strong Genetic Variation [331]
CMAS OTFQJG3C Strong Biomarker [332]
CNTN3 OTC1274J Strong Biomarker [333]
CNTN6 OTXVGVOR Strong Altered Expression [334]
CNTNAP5 OTF0AAJD Strong Genetic Variation [335]
COMMD1 OT7WUD5R Strong Biomarker [336]
COP1 OT6J2K12 Strong Biomarker [306]
COPG2 OT1DFC8W Strong Genetic Variation [327]
CP OTM8JE4Y Strong Biomarker [172]
CSDE1 OT15D7GH Strong Biomarker [337]
CSMD3 OTAT75SW Strong Biomarker [338]
CTNNBL1 OT6KLHPA Strong Biomarker [339]
CTNND2 OTYKE30Y Strong Biomarker [340]
CTTNBP2 OT4CL1EW Strong Biomarker [341]
CUEDC2 OTWMOLAJ Strong Genetic Variation [203]
CYFIP2 OTCAY35T Strong Biomarker [342]
DAB1 OTPL9MA3 Strong Biomarker [343]
DCUN1D1 OT8UJLZU Strong Genetic Variation [344]
DEAF1 OTCLX3ZW Strong Genetic Variation [345]
DESI1 OTFNIW98 Strong Biomarker [346]
DGCR6 OTBOXM33 Strong Genetic Variation [211]
DIAPH3 OTPOT23F Strong Biomarker [347]
DIP2A OTXPTR8R Strong Biomarker [348]
DISC1 OT43AW4H Strong Biomarker [349]
DIXDC1 OT87DXEG Strong Biomarker [350]
DLX1 OT7BH057 Strong Genetic Variation [264]
DLX5 OTEEFBEU Strong Biomarker [351]
DNAAF4 OTVDYBJE Strong Genetic Variation [352]
DNASE1L3 OTEUIMC2 Strong Biomarker [353]
DOCK11 OTFSTN6A Strong Altered Expression [354]
DSCAM OTL7PRMK Strong Genetic Variation [355]
DUSP15 OTS6PQYL Strong Genetic Variation [356]
EAF2 OTSOET5L Strong Biomarker [357]
EBF1 OTZ61YYH Strong Genetic Variation [358]
EBPL OT59J1GY Strong Biomarker [359]
EHD1 OTDMEKLV Strong Genetic Variation [360]
ELN OTFSO7PG Strong Biomarker [361]
EN2 OT7EZCM2 Strong Genetic Variation [362]
EXT1 OTRPALJK Strong Biomarker [363]
FA2H OT8HA13U Strong Biomarker [364]
FABP7 OTRE2H4G Strong Biomarker [365]
FAM107B OT5RG4J0 Strong Biomarker [259]
FAM43A OT5RPQRE Strong Genetic Variation [366]
FAN1 OT1LM1HZ Strong Biomarker [367]
FARP2 OTNRQIMK Strong Biomarker [143]
FBXO15 OTJHEFE5 Strong Biomarker [368]
FBXO40 OTS62YA2 Strong Biomarker [306]
FCRL6 OTLIXQMQ Strong Biomarker [369]
FERMT3 OTFQOT3C Strong Biomarker [55]
FLG OTE9QDV6 Strong CausalMutation [370]
FOXK1 OTLZGS7J Strong Posttranslational Modification [371]
FZD3 OTIWDN78 Strong Biomarker [372]
GABBR1 OTU5A52J Strong Biomarker [373]
GABBR2 OT67RIFY Strong Biomarker [373]
GABRA4 OT5I7OI2 Strong Biomarker [25]
GABRB1 OT4L2SSB Strong Biomarker [374]
GABRG1 OT1NGUYY Strong Biomarker [375]
GLRA2 OTDQ0KW7 Strong Genetic Variation [376]
GLRA3 OTC8C2NC Strong Genetic Variation [138]
GLRB OTF37UG4 Strong Genetic Variation [138]
GNB1L OTXSUD8R Strong Biomarker [377]
GNB5 OT3ZSAXH Strong Biomarker [378]
GPHN OTAKK1SV Strong Biomarker [379]
GPR155 OT2ZCDS7 Strong Biomarker [380]
GPR37 OTIMDDI3 Strong Genetic Variation [381]
GRID2 OTJ3R10R Strong Biomarker [382]
GUK1 OTLI0HRU Strong Genetic Variation [383]
H1-4 OTQ450A3 Strong Biomarker [384]
H2AZ1 OT3KJJNQ Strong Biomarker [385]
H2BC12 OTQ8V0KG Strong Genetic Variation [386]
HCCS OTQE88BE Strong Genetic Variation [387]
HDLBP OTKDEEYX Strong Biomarker [143]
HLA-DPA1 OT7OG7Y2 Strong Genetic Variation [234]
HOMER1 OTWFD3SI Strong Genetic Variation [388]
HOXD11 OT9XGA4G Strong Genetic Variation [389]
HTN1 OTH3W1RR Strong Biomarker [390]
HTR3C OT65ZLIJ Strong Genetic Variation [391]
HYDIN OTY88F5F Strong Biomarker [392]
IL1RAPL2 OTP7IOJO Strong Genetic Variation [285]
IMMP2L OT9WGAFD Strong Genetic Variation [393]
ITIH3 OT4SLMLY Strong Genetic Variation [203]
JAKMIP1 OTEUYJIG Strong Biomarker [380]
KAT8 OT5LPQTR Strong Biomarker [394]
KATNAL2 OTL33OIT Strong Genetic Variation [395]
KDM5B OT5DL94T Strong Autosomal dominant [128]
KIF1A OT3JVEGV Strong Biomarker [33]
KIRREL3 OTW7PENS Strong Biomarker [396]
KMT2E OTYOLNOG Strong Biomarker [397]
LAMB1 OT6J9LJR Strong Genetic Variation [398]
LINGO2 OT3N88Q1 Strong Genetic Variation [24]
LMX1B OTM8145D Strong Biomarker [399]
LRFN2 OTI2QPM2 Strong Genetic Variation [400]
LRFN5 OTK7QZ3B Strong Biomarker [401]
LRP8 OTZ71YV2 Strong Biomarker [402]
LRRN3 OT7X0AA7 Strong Genetic Variation [403]
LSG1 OTDAXJ9L Strong Genetic Variation [366]
LZTR1 OTIDM6XO Strong Biomarker [69]
MACROH2A1 OTV2DQDD Strong Biomarker [386]
MAGEL2 OTXEL4R7 Strong Genetic Variation [404]
MARK1 OTP7KL47 Strong Biomarker [23]
MAST1 OTEYFN5O Strong Biomarker [405]
MBD3 OTRL76H5 Strong Biomarker [406]
MBD4 OTWR9YXE Strong Biomarker [406]
MBD6 OTDHBSFS Strong Genetic Variation [407]
MCF2L OTEURA8N Strong Biomarker [408]
MCPH1 OTYT3TT5 Strong Biomarker [409]
MEF2A OTV2SF6E Strong Biomarker [410]
MEGF10 OTILSPJ6 Strong Genetic Variation [411]
MEST OT8Q4U8Y Strong Genetic Variation [327]
MKRN3 OTAFO4YR Strong Altered Expression [412]
MLPH OT7ADCXL Strong Genetic Variation [413]
MOV10 OT0KAY9G Strong Biomarker [414]
MPDZ OT9WY1QM Strong Genetic Variation [381]
MRTFB OT9OXGS9 Strong Genetic Variation [96]
MTHFD1 OTMKHVWC Strong Biomarker [329]
MUL1 OT2JC9YR Strong Genetic Variation [68]
MYO1D OTP2RGPN Strong Biomarker [50]
MYT1L OTV45MAS Strong Biomarker [415]
NBEA OTYLY5TY Strong Biomarker [416]
NCAM2 OT8LBJN8 Strong Genetic Variation [417]
NDEL1 OTAGFML5 Strong Genetic Variation [418]
NDN OTYBYJ82 Strong Biomarker [412]
NDUFA5 OTR848KZ Strong Genetic Variation [419]
NETO1 OTXP9A63 Strong Biomarker [368]
NEUROG1 OTMJZP9G Strong Biomarker [386]
NFIC OTLMCUIB Strong Biomarker [420]
NFKBIL1 OTYFTPS0 Strong Genetic Variation [421]
NIPA1 OT9ODC8X Strong Biomarker [422]
NLGN1 OTGHRRFQ Strong Genetic Variation [423]
NOBOX OT0YFYPZ Strong Genetic Variation [424]
NOTCH2NLA OTD5QPCI Strong Genetic Variation [425]
NPAS2 OTMRT2TS Strong Biomarker [210]
NRXN2 OTB04QSU Strong Autosomal dominant [426]
OCRL OTQ3L42N Strong Biomarker [427]
OMG OTXA5C6L Strong Genetic Variation [428]
OTX1 OTRGSGH9 Strong Genetic Variation [429]
OXT OT48M72Z Strong Genetic Variation [51]
PAFAH1B1 OT9T2TCJ Strong Biomarker [430]
PAX6 OTOC9876 Strong Altered Expression [431]
PCDH10 OT2GIT0E Strong Biomarker [432]
PCDH11Y OTI2D7DR Strong Genetic Variation [433]
PCDH19 OTSOW3MV Strong Altered Expression [434]
PCDH9 OTX3BFV4 Strong Biomarker [435]
PENK OT8P3HMP Strong Biomarker [436]
PGLYRP2 OTF8319A Strong Genetic Variation [437]
PIANP OTGNB1SH Strong Biomarker [438]
PIGH OTMCFF0K Strong Genetic Variation [439]
PITX1 OTA0UN4C Strong Biomarker [386]
PLD5 OTEVPYNY Strong Biomarker [440]
PLEKHG3 OTF6I8RV Strong Biomarker [329]
PLP1 OT8CM9CX Strong Biomarker [441]
POGZ OT4CYWC1 Strong Altered Expression [442]
POLG OTDUCT04 Strong Genetic Variation [443]
POU6F2 OTNSW95F Strong Biomarker [440]
PPCDC OT9C76GS Strong Biomarker [444]
PPP1R1B OTSIJMQ9 Strong Biomarker [445]
PREX1 OTUTPVA9 Strong Genetic Variation [446]
PRF1 OTFVXD7H Strong Biomarker [103]
PRKN OTJBN41W Strong Genetic Variation [68]
PSD OTUZIXUZ Strong Biomarker [447]
PSD4 OTEFB87Z Strong Biomarker [448]
PTDSS1 OTXLIBD7 Strong Genetic Variation [449]
PTPRF OTH5KF2D Strong Biomarker [401]
PURA OT975ELW Strong Genetic Variation [450]
PVALB OTZW1WVQ Strong Biomarker [451]
PXDN OTFGGM9R Strong Biomarker [415]
QRSL1 OTJDU2UG Strong Biomarker [452]
RAB11FIP5 OTNA33DE Strong Biomarker [453]
RAB39B OTDCLLT0 Strong Genetic Variation [454]
RANBP9 OTM8COM5 Strong Biomarker [455]
RASSF7 OT0V4EIZ Strong Genetic Variation [456]
REEP3 OTM7YVIE Strong Biomarker [457]
RFC1 OT3L5PK3 Strong Genetic Variation [458]
RHOT2 OTV8WT2L Strong Biomarker [459]
RIMS1 OT10T7CK Strong Biomarker [69]
RIMS3 OTHN3H0A Strong Genetic Variation [460]
RLIM OTEBRNHJ Strong Genetic Variation [461]
RNF135 OT18NH5N Strong Genetic Variation [252]
RNF40 OTC8SDA3 Strong Biomarker [462]
RNF8 OTRR43PZ Strong Biomarker [333]
ROBO2 OTFJ9FQW Strong Biomarker [153]
ROBO3 OTPVG40S Strong Genetic Variation [153]
RPL10 OTBHOZGC Strong Genetic Variation [463]
RPP25 OTEN6QN7 Strong Altered Expression [464]
RYR2 OT0PF19E Strong Biomarker [449]
SCAMP5 OT9MXA2J Strong Altered Expression [465]
SCN7A OTK05PXY Strong Biomarker [333]
SEM1 OTASLBM1 Strong Genetic Variation [466]
SENP7 OTQJ05ZS Strong Biomarker [467]
SETDB1 OTWVUA1B Strong Genetic Variation [407]
SEZ6L2 OTUIKN2I Strong Biomarker [468]
SH3TC2 OTJ6XY2A Strong Genetic Variation [469]
SHANK1 OTK8PV0S Strong Autosomal dominant [426]
SHC2 OTTWMRNQ Strong Genetic Variation [470]
SHMT1 OTIINA3J Strong Genetic Variation [471]
SHMT2 OT5NCAZN Strong Genetic Variation [471]
SLC35G1 OTKZUA8O Strong Biomarker [346]
SMARCA2 OTSGJ8SV Strong Biomarker [277]
SNCB OTELSEK6 Strong Altered Expression [168]
SNRNP70 OTP52YZ3 Strong Genetic Variation [472]
SNRPN OTQB1ID1 Strong Altered Expression [473]
SNTG2 OTD8HJCD Strong Biomarker [474]
SNX29 OTYMXH13 Strong Biomarker [290]
SPRY3 OT0SHIZ6 Strong Genetic Variation [475]
SPX OTY3G4AR Strong Biomarker [476]
SRCIN1 OTQZNQQ5 Strong Genetic Variation [477]
SRRM4 OTALUISN Strong Altered Expression [478]
ST8SIA2 OTRBBBD8 Strong Biomarker [479]
STATH OTQHBHM9 Strong Biomarker [390]
STMN4 OT7ZUKW6 Strong Genetic Variation [77]
STRN4 OTHK2ZN6 Strong Biomarker [480]
STXBP1 OTRYA8C3 Strong Genetic Variation [481]
STXBP6 OTUEKTIP Strong Biomarker [444]
SYN1 OTMNPWC1 Strong Genetic Variation [482]
SYN2 OTK0DEGH Strong Biomarker [483]
SYNM OTOI8TRJ Strong Genetic Variation [129]
SYTL4 OT7MX5IK Strong Biomarker [481]
TADA1 OTV9RKSL Strong Genetic Variation [286]
TAF1C OTNV4CDH Strong Genetic Variation [183]
TAOK2 OTNUMOZ1 Strong Genetic Variation [484]
TAS2R3 OTX8ZG2D Strong Genetic Variation [485]
TCN2 OT41D0L3 Strong Biomarker [486]
TLL1 OTK9NM7G Strong Biomarker [487]
TMEM185A OTX1JIEM Strong Genetic Variation [488]
TOP3B OTNFEUOO Strong Biomarker [489]
TPTE OT0JNP52 Strong Biomarker [291]
TRIO OT71X1AK Strong Genetic Variation [490]
TRRAP OT68OI2Y Strong Biomarker [491]
TSC1 OTFF4YZ7 Strong Biomarker [250]
TSHZ3 OTAN7RY5 Strong Genetic Variation [492]
TSPAN32 OTSXW7EW Strong Biomarker [493]
TSPAN4 OTKFK57F Strong Biomarker [494]
CDKAL1 OTA0SGNE Definitive Genetic Variation [183]
CTNNA3 OT9Z0P1E Definitive Biomarker [29]
CYTH1 OTYH9NRJ Definitive Altered Expression [251]
DNER OT2GH2E5 Definitive Genetic Variation [183]
ERG OTOTX9VU Definitive Genetic Variation [183]
FAM135B OTCSYBI7 Definitive Genetic Variation [184]
GALNT14 OT9BSDDQ Definitive Genetic Variation [183]
GNPTAB OT2Z03OB Definitive CausalMutation [495]
GRIP1 OT958HK1 Definitive Biomarker [496]
GUCY1A2 OTR6DVAA Definitive Genetic Variation [183]
KLF7 OTS3YVA0 Definitive Biomarker [497]
LAMA1 OTQZMP86 Definitive Genetic Variation [183]
MBD5 OTFHT4MO Definitive Genetic Variation [498]
NAV3 OT97M1TR Definitive Genetic Variation [183]
NCS1 OT6JHAWM Definitive Biomarker [499]
NLGN3 OTKDEC1Q Definitive Genetic Variation [500]
NLGN4Y OT7E1S57 Definitive Genetic Variation [501]
NUFIP2 OTZBZ224 Definitive Biomarker [502]
PARD3B OTGZ43YI Definitive Genetic Variation [183]
PC OT6O0V51 Definitive Genetic Variation [183]
PCDH15 OTU9C2EH Definitive Genetic Variation [183]
PKP2 OTJOVF68 Definitive Genetic Variation [503]
PPL OTTM4WDO Definitive Genetic Variation [183]
PPP2R5D OT43TTX0 Definitive Genetic Variation [504]
RASSF5 OT6Q41I2 Definitive Genetic Variation [183]
RPH3AL OT9VFJEL Definitive Genetic Variation [183]
SDK1 OTX26906 Definitive Genetic Variation [184]
SETBP1 OTKGCOSR Definitive Genetic Variation [505]
SH3BP4 OTVIRKW7 Definitive Biomarker [215]
SLC22A15 OT60WAAI Definitive Genetic Variation [183]
SND1 OTT734JN Definitive Biomarker [506]
SORCS1 OTP8PAKU Definitive Genetic Variation [183]
SYNE2 OTBUXGQ0 Definitive Genetic Variation [183]
TBR1 OT14JQT8 Definitive Autosomal dominant [507]
TMEM132B OTDSGT9O Definitive Genetic Variation [183]
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⏷ Show the Full List of 408 DOT(s)
This Disease Is Related to 221 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
BCKDK TT7WD2Q Limited Genetic Variation [4]
CACNA1C TTZIFHC Limited Biomarker [5]
CHAT TTKYFSB Limited Genetic Variation [6]
CHRNA7 TTLA931 Limited Biomarker [7]
EIF4E TTZGCP6 Limited Biomarker [8]
FOXP1 TT0MUCI Limited Genetic Variation [9]
KCNJ1 TTJ13ST Limited Genetic Variation [10]
KCNQ2 TTPXI3S Limited Genetic Variation [11]
KDM5C TT94UCF Limited Altered Expression [12]
NEDD4 TT1QU6G Limited Genetic Variation [13]
NOS2 TTF10I9 Limited Biomarker [14]
RAC1 TT2M9CG Limited Biomarker [15]
HLA-DRB1 TTUXSTW Disputed Genetic Variation [16]
TRIP12 TTG2CRH Disputed Genetic Variation [17]
ADA TTLP57V moderate Biomarker [18]
AR TTKPW01 moderate Biomarker [19]
COMT TTKWFB8 moderate Biomarker [20]
DAGLA TTRQ6UD moderate Genetic Variation [21]
DRD1 TTZFYLI moderate Biomarker [22]
DRD4 TTE0A2F moderate Biomarker [23]
EP300 TTGH73N moderate Genetic Variation [24]
GABRG2 TT06RH5 moderate Genetic Variation [25]
HRAS TT28ZON moderate Biomarker [26]
IFNG TT93WF5 moderate Biomarker [27]
IGF1 TTT6LOU moderate Biomarker [28]
JMJD1C TTBISK4 moderate Biomarker [29]
KDM5B TTCLI75 moderate Altered Expression [30]
LEP TTBJEZ5 moderate Altered Expression [31]
LIMK1 TTWL9TY moderate Biomarker [32]
MAPK3 TT1MG9E moderate Biomarker [33]
NR4A2 TT9HKN3 moderate Biomarker [34]
PIK3CG TTHBTOP moderate Biomarker [35]
POMC TT21AKM moderate Altered Expression [36]
PRL TTJ2TSA moderate Biomarker [37]
PTGS2 TTVKILB moderate Biomarker [38]
SCN1A TTANOZH moderate Biomarker [39]
SCN8A TT54ERL moderate Genetic Variation [40]
SERPINE1 TTTO43N moderate Biomarker [31]
SERPINH1 TTPSWQG moderate Biomarker [41]
SOX2 TTCNOT6 moderate Genetic Variation [42]
THRA TTTSEPU moderate Biomarker [43]
ABAT TTT2LD9 Strong Genetic Variation [44]
ADCY1 TTV1ZSQ Strong Altered Expression [45]
ADM TTV14YH Strong Biomarker [46]
ADRB2 TTG8ZWP Strong Genetic Variation [47]
AGRP TT4DE1O Strong Biomarker [48]
ANK1 TTKFPMH Strong Biomarker [49]
ASIC2 TTVMWLP Strong Biomarker [50]
AVP TTJ8EWH Strong Genetic Variation [51]
AVPR1A TT4TFGN Strong Biomarker [52]
AVPR2 TTK8R02 Strong Biomarker [53]
BMPR2 TTGKF90 Strong Biomarker [32]
BRSK2 TTHZN4X Strong Genetic Variation [54]
C5 TTKANGO Strong Altered Expression [55]
CACNA1A TTX4QDJ Strong CausalMutation [56]
CACNA1H TTZPWGN Strong Biomarker [57]
CALCA TTVSFJW Strong Biomarker [58]
CAT TTPS279 Strong Biomarker [59]
CD38 TTPURFN Strong Biomarker [60]
CEP290 TT3XBOV Strong Genetic Variation [61]
CHRNA4 TT4H1MQ Strong Altered Expression [62]
CHRNB2 TT5KPZR Strong Biomarker [62]
CLK2 TT85TPS Strong Biomarker [63]
CNR2 TTMSFAW Strong Biomarker [64]
CNTF TTGEM5Q Strong Biomarker [65]
CRTC1 TT4GO0F Strong Biomarker [66]
CS TTZA6B3 Strong Altered Expression [67]
CUL3 TTPCU0Q Strong Biomarker [68]
CUL7 TTI8R0P Strong Biomarker [69]
CYP11B1 TTIQUX7 Strong Genetic Variation [70]
CYP19A1 TTSZLWK Strong Biomarker [71]
CYP21A2 TTP4GLG Strong Genetic Variation [72]
DAO TT7Y3EJ Strong Biomarker [73]
DHFR TTYZVDJ Strong Biomarker [74]
DLL1 TT9CFQD Strong Biomarker [75]
DPYD TTZPS91 Strong Biomarker [76]
DPYSL2 TTZCW3T Strong Genetic Variation [77]
DRD3 TT4C8EA Strong Genetic Variation [78]
DYRK1A TTSBVFO Strong Genetic Variation [79]
EHMT1 TTOFXD7 Strong Biomarker [80]
EIF4EBP2 TTNBTCW Strong Biomarker [81]
FOSL2 TT689IR Strong Biomarker [82]
GABRA1 TT1MPAY Strong Biomarker [83]
GABRA2 TTBMV1G Strong Biomarker [83]
GABRA3 TT37EDJ Strong Biomarker [83]
GABRA5 TTNZPQ1 Strong Biomarker [84]
GABRB2 TTZA1NY Strong Biomarker [23]
GABRD TTGXH6N Strong Biomarker [85]
GAD1 TTKGEP3 Strong Altered Expression [86]
GAD2 TT7UY6K Strong Altered Expression [87]
GHR TTHJWYD Strong Biomarker [88]
GJA1 TT4F7SL Strong Biomarker [89]
GLUL TTURQ2G Strong Biomarker [90]
GPR35 TT254XD Strong Genetic Variation [91]
GPX1 TTYAHBP Strong Biomarker [92]
GRIA1 TTVPQTF Strong Genetic Variation [93]
GRIA2 TTWM461 Strong Genetic Variation [94]
GRIK1 TT0MYE2 Strong Biomarker [95]
GRIK2 TT0K5RG Strong Biomarker [96]
GRIK4 TTQV6BO Strong Altered Expression [97]
GRIN1 TTLD29N Strong Biomarker [98]
GRIN2A TTKJEMQ Strong Biomarker [44]
GRIN2B TTN9D8E Strong Biomarker [99]
GRM7 TT0I76D Strong Genetic Variation [100]
GRM8 TT0IFKL Strong Genetic Variation [101]
GSTP1 TT40K12 Strong Biomarker [102]
GZMB TTKEPHX Strong Biomarker [103]
HDAC8 TTT6LFV Strong Genetic Variation [104]
HLA-A TTHONFT Strong Biomarker [105]
HLA-G TTLKFB3 Strong Biomarker [106]
HPD TT8DSFC Strong Biomarker [107]
HTR1A TTSQIFT Strong Genetic Variation [108]
HTR1B TTK8CXU Strong Biomarker [109]
HTR1D TT6MSOK Strong Biomarker [109]
HTR2A TTJQOD7 Strong Genetic Variation [110]
HTR2C TTWJBZ5 Strong Biomarker [111]
HTR3A TTPC4TU Strong Biomarker [112]
HTR5A TTRUFDT Strong Biomarker [113]
HTR7 TTO9X1H Strong Genetic Variation [114]
HTT TTIWZ0O Strong Genetic Variation [115]
IGF2 TTE8WGO Strong Biomarker [88]
IGFBP3 TTZHNQA Strong Biomarker [88]
IL13 TT0GVCH Strong Biomarker [116]
IL15 TTJFA35 Strong Biomarker [117]
IL1RN TT6GSR3 Strong Biomarker [118]
IL2 TTF89GD Strong Biomarker [117]
IL21R TTZO9B0 Strong Biomarker [119]
IL4 TTLGTKB Strong Altered Expression [120]
IL5 TTPREZD Strong Biomarker [121]
INPP1 TTW0PHM Strong Biomarker [122]
ITGA4 TTJMF9P Strong Genetic Variation [123]
ITGA6 TT165T3 Strong Genetic Variation [123]
ITGB3 TTJA1ZO Strong Genetic Variation [124]
KCNJ10 TTG140O Strong Biomarker [125]
KCNMA1 TTE87WJ Strong Biomarker [126]
KDM4C TTV8CRH Strong Genetic Variation [127]
KDM5B TTCLI75 Strong Autosomal dominant [128]
KIR2DS1 TTVWAGF Strong Biomarker [106]
LASP1 TTZJA87 Strong Biomarker [50]
LYVE1 TTG8DNU Strong Altered Expression [129]
MAOB TTGP7BY Strong Biomarker [130]
MET TTNDSF4 Strong Biomarker [131]
MFGE8 TT1GLAJ Strong Biomarker [132]
MIF TT6804T Strong Biomarker [133]
MRC1 TTKV8W5 Strong Biomarker [134]
MTF1 TTTQDEO Strong Biomarker [135]
MTHFR TTQWOU1 Strong Genetic Variation [136]
NPTX2 TTNJ5A6 Strong Genetic Variation [137]
NPY1R TTRK9JT Strong Genetic Variation [138]
NPY5R TTY6EWA Strong Genetic Variation [138]
NRP2 TTRXUVC Strong Biomarker [139]
NSD1 TTTSJ3H Strong Genetic Variation [140]
NTF3 TTZHKV9 Strong Biomarker [141]
NTF4 TTIM2WO Strong Biomarker [141]
NTRK2 TTKN7QR Strong Biomarker [142]
PASK TTC0V1J Strong Biomarker [143]
PCSK6 TT75LN9 Strong Biomarker [144]
PDE4A TTZ97H5 Strong Biomarker [145]
PDE4B TTVIAT9 Strong Biomarker [145]
PECAM1 TT4EZB2 Strong Biomarker [146]
PKD2L1 TTAHD89 Strong Genetic Variation [147]
PLA2G4A TTT1JVS Strong Biomarker [148]
PLAUR TTNOSTX Strong Biomarker [149]
PRLR TTBPXMA Strong Biomarker [150]
PTPRZ1 TT4SEA8 Strong Biomarker [151]
RIC8A TTDFTJG Strong Biomarker [152]
ROBO1 TTND1YP Strong Biomarker [153]
ROBO4 TT3S9TY Strong Biomarker [153]
RORA TT1TYN7 Strong Genetic Variation [154]
RORC TTGV6LY Strong Biomarker [155]
SCN2A TTLJTUF Strong Biomarker [156]
SDC2 TT5H2F0 Strong Genetic Variation [157]
SIK1 TT1H6LC Strong Genetic Variation [158]
SLC12A5 TTH6UZY Strong Biomarker [159]
SLC12A6 TT8DFHE Strong Genetic Variation [160]
SLC19A1 TT09I7D Strong Genetic Variation [161]
SLC1A1 TTG2A6F Strong Genetic Variation [162]
SLC1A2 TT2F078 Strong Genetic Variation [163]
SLC1A3 TT8WRDA Strong Biomarker [164]
SLC27A4 TT20AYF Strong Biomarker [165]
SLC40A1 TT6Y1PG Strong Biomarker [135]
SLC6A8 TTYUHB5 Strong Biomarker [166]
SNAP25 TTYQWA0 Strong Genetic Variation [167]
SNCG TT5TQNZ Strong Altered Expression [168]
SSTR5 TT2BC4G Strong Genetic Variation [169]
STS TTHM0R1 Strong Biomarker [170]
TDO2 TTXNCBV Strong Biomarker [171]
TF TT8WXAV Strong Biomarker [172]
TNFRSF17 TTZ3P4W Strong Altered Expression [173]
TNFRSF1B TT63WSF Strong Altered Expression [174]
TPH1 TTZSJHV Strong Biomarker [113]
TRH TT2Z39D Strong Biomarker [121]
UBE3A TTUZX6V Strong Altered Expression [175]
UCP3 TT12RJK Strong Genetic Variation [161]
VIP TTGTWLF Strong Biomarker [176]
VIPR2 TT4O5P0 Strong Biomarker [177]
VKORC1 TTEUC8H Strong Genetic Variation [178]
XDH TT7RJY8 Strong Biomarker [59]
ADORA2A TTM2AOE Definitive Altered Expression [179]
CACNA1D TT7RGTM Definitive Biomarker [180]
CREBBP TTFRCTK Definitive Biomarker [8]
DBH TTYIP79 Definitive Biomarker [181]
DDC TTN451K Definitive Genetic Variation [22]
DLG4 TT9PB26 Definitive Biomarker [182]
ERBB4 TTWALCO Definitive Genetic Variation [183]
FER TTRA9G0 Definitive Genetic Variation [184]
GABRG3 TTEX6LM Definitive Genetic Variation [185]
GRM5 TTHS256 Definitive Biomarker [186]
GRPR TTC1MVT Definitive Genetic Variation [187]
LIPG TTHSZXO Definitive Genetic Variation [183]
MAOA TT3WG5C Definitive Altered Expression [188]
MTR TTUTO39 Definitive Genetic Variation [189]
NCAM1 TTVXPHT Definitive Biomarker [190]
NELL1 TT7H4BF Definitive Genetic Variation [184]
PHF8 TT81PFE Definitive Genetic Variation [191]
PTEN TTXJ3W7 Definitive Biomarker [192]
RAPGEF4 TTOS63B Definitive Genetic Variation [193]
SLC22A3 TTG2UMS Definitive Genetic Variation [183]
SLC23A2 TTOP832 Definitive Genetic Variation [183]
STK39 TTYQTIU Definitive Biomarker [194]
WNK3 TTI7FDX Definitive Genetic Variation [191]
------------------------------------------------------------------------------------
⏷ Show the Full List of 221 DTT(s)
This Disease Is Related to 9 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC9A6 DTN0JXW Disputed Genetic Variation [195]
ATP10A DTTQ8WI moderate Biomarker [196]
SLC35A3 DTB930Q moderate Genetic Variation [197]
ABCA3 DT2T6VQ Strong Biomarker [78]
CACNB2 DTBZWL4 Strong Genetic Variation [198]
SLC12A2 DTHKL3Q Strong Genetic Variation [199]
SLC18A1 DTM953D Strong Genetic Variation [200]
SLC27A3 DTEW95J Strong Genetic Variation [165]
SLC39A11 DTEOAND Definitive Genetic Variation [183]
------------------------------------------------------------------------------------
⏷ Show the Full List of 9 DTP(s)
This Disease Is Related to 14 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
GLDC DEIN8FB Limited Genetic Variation [201]
ASMT DEHGR57 moderate Altered Expression [202]
AS3MT DE9KJP3 Strong Genetic Variation [203]
DHCR7 DEL7GFA Strong Biomarker [204]
FAAH DEUM1EX Strong Biomarker [205]
GMDS DE8K7F3 Strong Biomarker [206]
GSTM1 DEYZEJA Strong Biomarker [207]
MTRR DE6NIY9 Strong Genetic Variation [208]
NT5C DE4E31Z Strong Biomarker [209]
NT5C2 DE1DOKJ Strong Genetic Variation [203]
PER1 DE9HF0I Strong Biomarker [210]
PRODH DEVJIHS Strong Genetic Variation [211]
SCLY DEH4TD6 Strong Biomarker [212]
UPP2 DEBQ2WU Strong Biomarker [213]
------------------------------------------------------------------------------------
⏷ Show the Full List of 14 DME(s)

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73 Association of the DAO and DAOA gene polymorphisms with autism spectrum disorders in boys in Korea: a preliminary study.Psychiatry Res. 2007 Oct 31;153(2):179-82. doi: 10.1016/j.psychres.2007.02.007. Epub 2007 Jul 16.
74 Preliminary evidence for involvement of the folate gene polymorphism 19bp deletion-DHFR in occurrence of autism.Neurosci Lett. 2007 Jul 5;422(1):24-9. doi: 10.1016/j.neulet.2007.05.025. Epub 2007 May 24.
75 Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders. Am J Hum Genet. 2019 Sep 5;105(3):631-639. doi: 10.1016/j.ajhg.2019.07.002. Epub 2019 Jul 25.
76 Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder.Clin Genet. 2011 Nov;80(5):435-43. doi: 10.1111/j.1399-0004.2010.01578.x. Epub 2010 Nov 29.
77 A novel 6.14 Mb duplication of chromosome 8p21 in a patient with autism and self mutilation.J Autism Dev Disord. 2009 Feb;39(2):322-9. doi: 10.1007/s10803-008-0627-x. Epub 2008 Aug 12.
78 DRD3 Ser9Gly Polymorphism and Its Influence on Risperidone Response in Autistic Children.J Pharm Pharm Sci. 2017;20(1):445-452. doi: 10.18433/J3H63T.
79 Impaired development of neocortical circuits contributes to the neurological alterations in DYRK1A haploinsufficiency syndrome.Neurobiol Dis. 2019 Jul;127:210-222. doi: 10.1016/j.nbd.2019.02.022. Epub 2019 Mar 1.
80 Beneficial Effects of GLP-1 Agonist in a Male With Compulsive Food-Related Behavior Associated With Autism.Front Psychiatry. 2019 Mar 1;10:97. doi: 10.3389/fpsyt.2019.00097. eCollection 2019.
81 Inhibitory interneurons mediate autism-associated behaviors via 4E-BP2.Proc Natl Acad Sci U S A. 2019 Sep 3;116(36):18060-18067. doi: 10.1073/pnas.1908126116. Epub 2019 Aug 19.
82 Fra(2) (q13) and inv(9) (p11q12) in autism: causal relationship?.Am J Med Genet. 1986 Jan-Feb;23(1-2):381-92. doi: 10.1002/ajmg.1320230130.
83 GABA(A) receptor downregulation in brains of subjects with autism.J Autism Dev Disord. 2009 Feb;39(2):223-30. doi: 10.1007/s10803-008-0646-7. Epub 2008 Sep 23.
84 GABA(A) receptor alpha5 subunit as a candidate gene for autism and bipolar disorder: a proposed endophenotype with parent-of-origin and gain-of-function features,with or without oculocutaneous albinism.Autism. 2007 Mar;11(2):135-47. doi: 10.1177/1362361307075705.
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86 A Developmental Study of Abnormal Behaviors and Altered GABAergic Signaling in the VPA-Treated Rat Model of Autism.Front Behav Neurosci. 2018 Aug 21;12:182. doi: 10.3389/fnbeh.2018.00182. eCollection 2018.
87 Decreased GAD65 mRNA levels in select subpopulations of neurons in the cerebellar dentate nuclei in autism: an in situ hybridization study.Autism Res. 2009 Feb;2(1):50-9. doi: 10.1002/aur.62.
88 Elevated levels of growth-related hormones in autism and autism spectrum disorder.Clin Endocrinol (Oxf). 2007 Aug;67(2):230-7. doi: 10.1111/j.1365-2265.2007.02868.x. Epub 2007 Jun 4.
89 Expression of astrocytic markers aquaporin 4 and connexin 43 is altered in brains of subjects with autism.Synapse. 2008 Jul;62(7):501-7. doi: 10.1002/syn.20519.
90 Understanding the roles of glutamine synthetase, glutaminase, and glutamate decarboxylase autoantibodies in imbalanced excitatory/inhibitory neurotransmission as etiological mechanisms of autism.Psychiatry Clin Neurosci. 2018 May;72(5):362-373. doi: 10.1111/pcn.12639. Epub 2018 Mar 10.
91 The emerging pharmacology and function of GPR35 in the nervous system.Neuropharmacology. 2017 Feb;113(Pt B):661-671. doi: 10.1016/j.neuropharm.2015.07.035. Epub 2015 Jul 29.
92 Genetic variant of glutathione peroxidase 1 in autism.Brain Dev. 2010 Feb;32(2):105-9. doi: 10.1016/j.braindev.2008.12.017. Epub 2009 Feb 4.
93 Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains. Nat Neurosci. 2017 Aug;20(8):1043-1051. doi: 10.1038/nn.4589. Epub 2017 Jun 19.
94 Gain-of-function glutamate receptor interacting protein 1 variants alter GluA2 recycling and surface distribution in patients with autism.Proc Natl Acad Sci U S A. 2011 Mar 22;108(12):4920-5. doi: 10.1073/pnas.1102233108. Epub 2011 Mar 7.
95 A de novo 8.8-Mb deletion of 21q21.1-q21.3 in an autistic male with a complex rearrangement involving chromosomes 6, 10, and 21.Am J Med Genet A. 2010 Jan;152A(1):196-202. doi: 10.1002/ajmg.a.33176.
96 Linkage and candidate gene studies of autism spectrum disorders in European populations.Eur J Hum Genet. 2010 Sep;18(9):1013-9. doi: 10.1038/ejhg.2010.69. Epub 2010 May 5.
97 Increased Grik4 Gene Dosage Causes Imbalanced Circuit Output and Human Disease-Related Behaviors.Cell Rep. 2018 Jun 26;23(13):3827-3838. doi: 10.1016/j.celrep.2018.05.086.
98 OptogeneticStimulation of the Anterior Cingulate Cortex Ameliorates Autistic-Like Behaviors in Rats Induced by Neonatal Isolation, Caudate Putamen as a Site for Alteration.Neuromolecular Med. 2019 Jun;21(2):132-142. doi: 10.1007/s12017-019-08526-w. Epub 2019 Feb 19.
99 Disease-associated missense mutations in GluN2B subunit alter NMDA receptor ligand binding and ion channel properties.Nat Commun. 2018 Mar 6;9(1):957. doi: 10.1038/s41467-018-02927-4.
100 Glutamate receptor, metabotropic 7 (GRM7) gene variations and susceptibility to autism: A case-control study.Autism Res. 2016 Nov;9(11):1161-1168. doi: 10.1002/aur.1640. Epub 2016 Jun 17.
101 The association analysis of RELN and GRM8 genes with autistic spectrum disorder in Chinese Han population.Am J Med Genet B Neuropsychiatr Genet. 2008 Mar 5;147B(2):194-200. doi: 10.1002/ajmg.b.30584.
102 Risk of autistic disorder in affected offspring of mothers with a glutathione S-transferase P1 haplotype.Arch Pediatr Adolesc Med. 2007 Apr;161(4):356-61. doi: 10.1001/archpedi.161.4.356.
103 Altered gene expression and function of peripheral blood natural killer cells in children with autism.Brain Behav Immun. 2009 Jan;23(1):124-33. doi: 10.1016/j.bbi.2008.08.001. Epub 2008 Aug 14.
104 Autism traits in children and adolescents with Cornelia de Lange syndrome.Am J Med Genet A. 2014 Jun;164A(6):1400-10. doi: 10.1002/ajmg.a.36573. Epub 2014 Apr 9.
105 The association and linkage of the HLA-A2 class I allele with autism.Hum Immunol. 2006 Apr-May;67(4-5):346-51. doi: 10.1016/j.humimm.2006.01.001. Epub 2006 Apr 3.
106 HLA-G?4bp Insertion and the KIR2DS1-HLAC2 Complex Impact on Behavioral Impairment in Children with Autism Spectrum Disorders.Neuroscience. 2018 Feb 1;370:163-169. doi: 10.1016/j.neuroscience.2017.06.012. Epub 2017 Jun 13.
107 Molecular and cytogenetic analyses on Brazilian youths with pervasive developmental disorders.J Autism Dev Disord. 2002 Feb;32(1):35-41. doi: 10.1023/a:1017952123258.
108 The roles of CC2D1A and HTR1A gene expressions in autism spectrum disorders.Metab Brain Dis. 2016 Jun;31(3):613-9. doi: 10.1007/s11011-016-9795-0. Epub 2016 Jan 19.
109 HTR1B and HTR2C in autism spectrum disorders in Brazilian families.Brain Res. 2009 Jan 23;1250:14-9. doi: 10.1016/j.brainres.2008.11.007. Epub 2008 Nov 12.
110 DNA Methylation Analysis of HTR2A Regulatory Region in Leukocytes of Autistic Subjects.Autism Res. 2016 Feb;9(2):204-9. doi: 10.1002/aur.1519. Epub 2015 Jul 7.
111 Ectopic expression of Snord115 in choroid plexus interferes with editing but not splicing of 5-Ht2c receptor pre-mRNA in mice.Sci Rep. 2019 Mar 12;9(1):4300. doi: 10.1038/s41598-019-39940-6.
112 Examination of association of genes in the serotonin system to autism.Neurogenetics. 2009 Jul;10(3):209-16. doi: 10.1007/s10048-009-0171-7. Epub 2009 Jan 28.
113 Evidence for epistasis between SLC6A4 and ITGB3 in autism etiology and in the determination of platelet serotonin levels. Hum Genet. 2007 Apr;121(2):243-56. doi: 10.1007/s00439-006-0301-3. Epub 2007 Jan 3.
114 Physical mapping of the serotonin 5-HT(7) receptor gene (HTR7) to chromosome 10 and pseudogene (HTR7P) to chromosome 12, and testing of linkage disequilibrium between HTR7 and autistic disorder.Am J Med Genet. 1999 Oct 15;88(5):472-5. doi: 10.1002/(sici)1096-8628(19991015)88:5<472::aid-ajmg7>3.0.co;2-g.
115 Population-based association study and contrasting linkage disequilibrium pattern reveal genetic association of SLC6A4 with autism in the Indian population from West Bengal.Brain Res. 2008 Nov 13;1240:12-21. doi: 10.1016/j.brainres.2008.08.063. Epub 2008 Sep 4.
116 Elevated cytokine levels in children with autism spectrum disorder.J Neuroimmunol. 2006 Mar;172(1-2):198-205. doi: 10.1016/j.jneuroim.2005.11.007. Epub 2005 Dec 19.
117 Low natural killer cell cytotoxic activity in autism: the role of glutathione, IL-2 and IL-15.J Neuroimmunol. 2008 Dec 15;205(1-2):148-54. doi: 10.1016/j.jneuroim.2008.09.005. Epub 2008 Oct 16.
118 Activation of the inflammatory response system in autism.Neuropsychobiology. 2002;45(1):1-6. doi: 10.1159/000048665.
119 Inhibition of tyrosine kinase signaling by tyrphostin AG126 downregulates the IL-21/IL-21R and JAK/STAT pathway in the BTBR mouse model of autism.Neurotoxicology. 2020 Mar;77:1-11. doi: 10.1016/j.neuro.2019.12.003. Epub 2019 Dec 4.
120 Amniotic fluid inflammatory cytokines: potential markers of immunologic dysfunction in autism spectrum disorders.World J Biol Psychiatry. 2013 Sep;14(7):528-38. doi: 10.3109/15622975.2011.639803. Epub 2011 Dec 19.
121 Receiver operating characteristic curve analysis of the Child Behavior Checklist and Teacher's Report Form for assessing autism spectrum disorder in preschool-aged children.Neuropsychiatr Dis Treat. 2017 Dec 28;14:95-102. doi: 10.2147/NDT.S151185. eCollection 2018.
122 Association of INPP1, PIK3CG, and TSC2 gene variants with autistic disorder: implications for phosphatidylinositol signalling in autism.J Med Genet. 2003 Nov;40(11):e119. doi: 10.1136/jmg.40.11.e119.
123 Lack of association between markers in the ITGA3, ITGAV, ITGA6 and ITGB3 and autism in an Irish sample.Autism Res. 2010 Dec;3(6):342-4. doi: 10.1002/aur.157. Epub 2010 Dec 3.
124 Family-based association study of ITGB3 in autism spectrum disorder and its endophenotypes.Eur J Hum Genet. 2011 Mar;19(3):353-9. doi: 10.1038/ejhg.2010.180. Epub 2010 Nov 24.
125 Electrophysiological features of sleep in children with Kir4.1 channel mutations and Autism-Epilepsy phenotype: a preliminary study.Sleep. 2020 Apr 15;43(4):zsz255. doi: 10.1093/sleep/zsz255.
126 Association of a functional deficit of the BKCa channel, a synaptic regulator of neuronal excitability, with autism and mental retardation.Am J Psychiatry. 2006 Sep;163(9):1622-9. doi: 10.1176/ajp.2006.163.9.1622.
127 Analysis of 9p24 and 11p12-13 regions in autism spectrum disorders: rs1340513 in the JMJD2C gene is associated with ASDs in Finnish sample.Psychiatr Genet. 2010 Jun;20(3):102-8. doi: 10.1097/YPG.0b013e32833a2080.
128 Prevalence and architecture of de novo mutations in developmental disorders. Nature. 2017 Feb 23;542(7642):433-438. doi: 10.1038/nature21062. Epub 2017 Jan 25.
129 Genetic mapping and evolutionary analysisof human-expanded cognitive networks.Nat Commun. 2019 Oct 24;10(1):4839. doi: 10.1038/s41467-019-12764-8.
130 Monoamine oxidase-A and B activities in the cerebellum and frontal cortex of children and young adults with autism.J Neurosci Res. 2017 Oct;95(10):1965-1972. doi: 10.1002/jnr.24027. Epub 2017 Feb 2.
131 Semaphorin4D Induces Inhibitory Synapse Formation by Rapid Stabilization of Presynaptic Boutons via MET Coactivation.J Neurosci. 2019 May 29;39(22):4221-4237. doi: 10.1523/JNEUROSCI.0215-19.2019. Epub 2019 Mar 26.
132 The Number of Parvalbumin-Expressing Interneurons Is Decreased in the Prefrontal Cortex in Autism.Cereb Cortex. 2017 Mar 1;27(3):1931-1943. doi: 10.1093/cercor/bhw021.
133 Macrophage migration inhibitory factor and autism spectrum disorders.Pediatrics. 2008 Aug;122(2):e438-45. doi: 10.1542/peds.2007-3604.
134 Interpreters' knowledge and perceptions of childhood vaccines: Effect of an educational session.Vaccine. 2020 Jan 29;38(5):1216-1219. doi: 10.1016/j.vaccine.2019.11.010. Epub 2019 Nov 19.
135 Polymorphisms in xenobiotic metabolism genes and autism.J Child Neurol. 2004 Jun;19(6):413-7. doi: 10.1177/088307380401900603.
136 Study of C677T variant of methylene tetrahydrofolate reductase gene in autistic spectrum disorder Egyptian children.Am J Med Genet B Neuropsychiatr Genet. 2019 Jul;180(5):305-309. doi: 10.1002/ajmg.b.32729. Epub 2019 Apr 29.
137 No association between the neuronal pentraxin II gene polymorphism and autism.Prog Neuropsychopharmacol Biol Psychiatry. 2007 May 9;31(4):940-3. doi: 10.1016/j.pnpbp.2007.02.016. Epub 2007 Mar 3.
138 A case of autism with an interstitial deletion on 4q leading to hemizygosity for genes encoding for glutamine and glycine neurotransmitter receptor sub-units (AMPA 2, GLRA3, GLRB) and neuropeptide receptors NPY1R, NPY5R.BMC Med Genet. 2004 Apr 16;5:10. doi: 10.1186/1471-2350-5-10.
139 Deletion of Semaphorin 3F in Interneurons Is Associated with Decreased GABAergic Neurons, Autism-like Behavior, and Increased Oxidative Stress Cascades.Mol Neurobiol. 2019 Aug;56(8):5520-5538. doi: 10.1007/s12035-018-1450-9. Epub 2019 Jan 11.
140 Mutation analysis of the NSD1 gene in patients with autism spectrum disorders and macrocephaly.BMC Med Genet. 2007 Nov 14;8:68. doi: 10.1186/1471-2350-8-68.
141 Selected neurotrophins, neuropeptides, and cytokines: developmental trajectory and concentrations in neonatal blood of children with autism or Down syndrome.Int J Dev Neurosci. 2006 Feb;24(1):73-80. doi: 10.1016/j.ijdevneu.2005.10.003. Epub 2005 Nov 14.
142 Increased BDNF levels and NTRK2 gene association suggest a disruption of BDNF/TrkB signaling in autism.Genes Brain Behav. 2010 Oct;9(7):841-8. doi: 10.1111/j.1601-183X.2010.00627.x. Epub 2010 Aug 19.
143 FARP2, HDLBP and PASK are downregulated in a patient with autism and 2q37.3 deletion syndrome.Am J Med Genet A. 2009 May;149A(5):952-9. doi: 10.1002/ajmg.a.32779.
144 The PCSK6 gene is associated with handedness, the autism spectrum, and magical ideation in a non-clinical population.Neuropsychologia. 2016 Apr;84:205-12. doi: 10.1016/j.neuropsychologia.2016.02.020. Epub 2016 Feb 24.
145 Expression of phosphodiesterase 4 is altered in the brains of subjects with autism.Neuroreport. 2007 Nov 19;18(17):1841-4. doi: 10.1097/WNR.0b013e3282f16dca.
146 Decreased serum levels of platelet-endothelial adhesion molecule (PECAM-1) in subjects with high-functioning autism: a negative correlation with head circumference at birth.Biol Psychiatry. 2007 Nov 1;62(9):1056-8. doi: 10.1016/j.biopsych.2006.12.018. Epub 2007 May 23.
147 Are PTSD and autistic traits related? An examination among typically developing Israeli adults.Compr Psychiatry. 2019 Feb;89:22-27. doi: 10.1016/j.comppsych.2018.11.004. Epub 2018 Dec 6.
148 Increase of cytosolic phospholipase A2 as hydrolytic enzyme of phospholipids and autism cognitive, social and sensory dysfunction severity.Lipids Health Dis. 2017 Jun 15;16(1):117. doi: 10.1186/s12944-016-0391-4.
149 The autism risk genes MET and PLAUR differentially impact cortical development.Autism Res. 2011 Feb;4(1):68-83. doi: 10.1002/aur.172. Epub 2010 Dec 3.
150 Genes controlling affiliative behavior as candidate genes for autism.Biol Psychiatry. 2008 May 15;63(10):911-6. doi: 10.1016/j.biopsych.2007.11.015. Epub 2008 Jan 22.
151 No association of FOXP2 and PTPRZ1 on 7q31 with autism from the Japanese population.Neurosci Res. 2005 Sep;53(1):91-4. doi: 10.1016/j.neures.2005.05.003.
152 Interference of the complex between NCS-1 and Ric8a with phenothiazines regulates synaptic function and is an approach for fragile X syndrome.Proc Natl Acad Sci U S A. 2017 Feb 7;114(6):E999-E1008. doi: 10.1073/pnas.1611089114. Epub 2017 Jan 24.
153 Genetic analyses of roundabout (ROBO) axon guidance receptors in autism.Am J Med Genet B Neuropsychiatr Genet. 2008 Oct 5;147B(7):1019-27. doi: 10.1002/ajmg.b.30697.
154 Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia. Am J Hum Genet. 2018 May 3;102(5):744-759. doi: 10.1016/j.ajhg.2018.02.021. Epub 2018 Apr 12.
155 Adenosine A2A receptor modulates neuroimmune function through Th17/retinoid-related orphan receptor gamma t (RORt) signaling in a BTBR T(+) Itpr3(tf)/J mouse model of autism.Cell Signal. 2017 Aug;36:14-24. doi: 10.1016/j.cellsig.2017.04.014. Epub 2017 Apr 21.
156 The Autism-Associated Gene Scn2a Contributes to Dendritic Excitability and Synaptic Function in the Prefrontal Cortex.Neuron. 2019 Aug 21;103(4):673-685.e5. doi: 10.1016/j.neuron.2019.05.037. Epub 2019 Jun 20.
157 Autism and multiple exostoses associated with an X;8 translocation occurring within the GRPR gene and 3' to the SDC2 gene.Hum Mol Genet. 1997 Aug;6(8):1241-50. doi: 10.1093/hmg/6.8.1241.
158 De novo mutations in SIK1 cause a spectrum of developmental epilepsies. Am J Hum Genet. 2015 Apr 2;96(4):682-90. doi: 10.1016/j.ajhg.2015.02.013.
159 Molecular architecture of potassium chloride co-transporter KCC2.Sci Rep. 2017 Nov 28;7(1):16452. doi: 10.1038/s41598-017-15739-1.
160 Functional analysis of a potassium-chloride co-transporter 3 (SLC12A6) promoter polymorphism leading to an additional DNA methylation site. Neuropsychopharmacology. 2009 Jan;34(2):458-67.
161 Single Nucleotide Polymorphisms in SLC19A1 and SLC25A9 Are Associated with Childhood Autism Spectrum Disorder in the Chinese Han Population.J Mol Neurosci. 2017 Jun;62(2):262-267. doi: 10.1007/s12031-017-0929-6. Epub 2017 May 24.
162 Family-Based Association Testing of OCD-associated SNPs of SLC1A1 in an autism sample.Autism Res. 2008 Apr;1(2):108-13. doi: 10.1002/aur.11.
163 Association of rare variation in the glutamate receptor gene SLC1A2 with susceptibility to bipolar disorder and schizophrenia.Eur J Hum Genet. 2015 Sep;23(9):1200-6. doi: 10.1038/ejhg.2014.261. Epub 2014 Nov 19.
164 Duplications of SLC1A3: Associated with ADHD and autism.Eur J Med Genet. 2016 Aug;59(8):373-6. doi: 10.1016/j.ejmg.2016.06.003. Epub 2016 Jun 11.
165 Investigation of the fatty acid transporter-encoding genes SLC27A3 and SLC27A4 in autism.Sci Rep. 2015 Nov 9;5:16239. doi: 10.1038/srep16239.
166 Screening of male patients with autism spectrum disorder for creatine transporter deficiency.Neuropediatrics. 2007 Dec;38(6):310-2. doi: 10.1055/s-2008-1065353.
167 Association between SNAP-25 gene polymorphisms and cognition in autism: functional consequences and potential therapeutic strategies.Transl Psychiatry. 2015 Jan 27;5(1):e500. doi: 10.1038/tp.2014.136.
168 Significant Changes in Plasma Alpha-Synuclein and Beta-Synuclein Levels in Male Children with Autism Spectrum Disorder.Biomed Res Int. 2018 Apr 8;2018:4503871. doi: 10.1155/2018/4503871. eCollection 2018.
169 Analysis of transmission of novel polymorphisms in the somatostatin receptor 5 (SSTR5) gene in patients with autism.Am J Med Genet B Neuropsychiatr Genet. 2003 Aug 15;121B(1):100-4. doi: 10.1002/ajmg.b.20050.
170 Profiling Autism Symptomatology: An Exploration of the Q-ASC Parental Report Scale in Capturing Sex Differences in Autism.J Autism Dev Disord. 2018 Feb;48(2):389-403. doi: 10.1007/s10803-017-3324-9.
171 Association of tryptophan 2,3 dioxygenase gene polymorphism with autism.Am J Med Genet B Neuropsychiatr Genet. 2004 Feb 15;125B(1):63-8. doi: 10.1002/ajmg.b.20147.
172 Oxidative stress in autism: increased lipid peroxidation and reduced serum levels of ceruloplasmin and transferrin--the antioxidant proteins.Life Sci. 2004 Oct 8;75(21):2539-49. doi: 10.1016/j.lfs.2004.04.038.
173 Polymorphism of bovine beta-casein and its potential effect on human health.J Appl Genet. 2007;48(3):189-98. doi: 10.1007/BF03195213.
174 Differential T Cell Levels of Tumor Necrosis Factor Receptor-II in Children With Autism.Front Psychiatry. 2018 Nov 20;9:543. doi: 10.3389/fpsyt.2018.00543. eCollection 2018.
175 Down-Regulation of miRNA-708 Promotes Aberrant Calcium Signaling by Targeting Neuronatin in a Mouse Model of Angelman Syndrome.Front Mol Neurosci. 2019 Feb 13;12:35. doi: 10.3389/fnmol.2019.00035. eCollection 2019.
176 Vasoactive intestinal peptide antagonist treatment during mouse embryogenesis impairs social behavior and cognitive function of adult male offspring.Exp Neurol. 2007 Jul;206(1):101-13. doi: 10.1016/j.expneurol.2007.04.004. Epub 2007 Apr 19.
177 Copy Number Variants in Patients with Autism and Additional Clinical Features: Report of VIPR2 Duplication and a Novel Microduplication Syndrome.Mol Neurobiol. 2017 Nov;54(9):7019-7027. doi: 10.1007/s12035-016-0202-y. Epub 2016 Oct 28.
178 Speculations on vitamin K, VKORC1 genotype and autism.Med Hypotheses. 2016 Nov;96:30-33. doi: 10.1016/j.mehy.2016.09.013. Epub 2016 Sep 22.
179 Immune Alterations in CD8(+) T Cells Are Associated with Neuronal C-C and C-X-C Chemokine Receptor Regulation Through Adenosine A2A Receptor Signaling in a BTBR T(+) Itpr3(tf)/J Autistic Mouse Model.Mol Neurobiol. 2018 Mar;55(3):2603-2616. doi: 10.1007/s12035-017-0548-9. Epub 2017 Apr 18.
180 New gain-of-function mutation shows CACNA1D as recurrently mutated gene in autism spectrum disorders and epilepsy.Hum Mol Genet. 2017 Aug 1;26(15):2923-2932. doi: 10.1093/hmg/ddx175.
181 MAOA, DBH, and SLC6A4 variants in CHARGE: a case-control study of autism spectrum disorders.Autism Res. 2011 Aug;4(4):250-61. doi: 10.1002/aur.196. Epub 2011 Apr 29.
182 PSD-95 deficiency disrupts PFC-associated function and behavior during neurodevelopment.Sci Rep. 2019 Jul 1;9(1):9486. doi: 10.1038/s41598-019-45971-w.
183 Individual common variants exert weak effects on the risk for autism spectrum disorders.Hum Mol Genet. 2012 Nov 1;21(21):4781-92. doi: 10.1093/hmg/dds301. Epub 2012 Jul 26.
184 A genome-wide association study of autism incorporating autism diagnostic interview-revised, autism diagnostic observation schedule, and social responsiveness scale.Child Dev. 2013 Jan-Feb;84(1):17-33. doi: 10.1111/j.1467-8624.2012.01838.x. Epub 2012 Aug 30.
185 Association study and mutation sequencing of genes on chromosome 15q11-q13 identified GABRG3 as a susceptibility gene for autism in Chinese Han population.Transl Psychiatry. 2018 Aug 14;8(1):152. doi: 10.1038/s41398-018-0197-4.
186 Altered mGluR5-Homer scaffolds and corticostriatal connectivity in a Shank3 complete knockout model of autism.Nat Commun. 2016 May 10;7:11459. doi: 10.1038/ncomms11459.
187 Analysis of the gastrin-releasing peptide receptor gene in Italian patients with autism spectrum disorders.Am J Med Genet B Neuropsychiatr Genet. 2008 Sep 5;147B(6):807-13. doi: 10.1002/ajmg.b.30752.
188 Perinatal fluoxetine exposure results in social deficits and reduced monoamine oxidase gene expression in mice.Brain Res. 2020 Jan 15;1727:146282. doi: 10.1016/j.brainres.2019.06.001. Epub 2019 Jun 3.
189 Analysis of methionine synthase (rs1805087) gene polymorphism in autism patients in Northern Iran.Acta Neurobiol Exp (Wars). 2016;76(4):318-323. doi: 10.21307/ane-2017-030.
190 Genome-wide association study of lifetime cannabis use based on a large meta-analytic sample of 32 330 subjects from the International Cannabis Consortium.Transl Psychiatry. 2016 Mar 29;6(3):e769. doi: 10.1038/tp.2016.36.
191 Autism-associated familial microdeletion of Xp11.22.Clin Genet. 2008 Aug;74(2):134-44. doi: 10.1111/j.1399-0004.2008.01028.x. Epub 2008 May 21.
192 PTEN Activity Defines an Axis for Plasticity at Cortico-Amygdala Synapses and Influences Social Behavior.Cereb Cortex. 2020 Mar 21;30(2):505-524. doi: 10.1093/cercor/bhz103.
193 An autism-associated variant of Epac2 reveals a role for Ras/Epac2 signaling in controlling basal dendrite maintenance in mice.PLoS Biol. 2012;10(6):e1001350. doi: 10.1371/journal.pbio.1001350. Epub 2012 Jun 26.
194 STK39, overexpressed in osteosarcoma, regulates osteosarcoma cell invasion and proliferation.Oncol Lett. 2017 Oct;14(4):4599-4604. doi: 10.3892/ol.2017.6728. Epub 2017 Aug 7.
195 Impaired posttranslational processing and trafficking of an endosomal Na+/H+ exchanger NHE6 mutant ((370)WST(372)) associated with X-linked intellectual disability and autism.Neurochem Int. 2014 Jul;73:192-203. doi: 10.1016/j.neuint.2013.09.020. Epub 2013 Sep 30.
196 Role of UBE3A and ATP10A genes in autism susceptibility region 15q11-q13 in an Italian population: a positive replication for UBE3A.Psychiatry Res. 2011 Jan 30;185(1-2):33-8. doi: 10.1016/j.psychres.2010.04.057. Epub 2010 Jul 6.
197 A human case of SLC35A3-related skeletal dysplasia.Am J Med Genet A. 2017 Oct;173(10):2758-2762. doi: 10.1002/ajmg.a.38374. Epub 2017 Aug 4.
198 Rare mutations of CACNB2 found in autism spectrum disease-affected families alter calcium channel function.PLoS One. 2014 Apr 21;9(4):e95579. doi: 10.1371/journal.pone.0095579. eCollection 2014.
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334 Decreased Expression of Synaptophysin 1 (SYP1 Major Synaptic Vesicle Protein p38) and Contactin 6 (CNTN6/NB3) in the Cerebellar Vermis of reln Haplodeficient Mice.Cell Mol Neurobiol. 2019 Aug;39(6):833-856. doi: 10.1007/s10571-019-00683-7. Epub 2019 May 16.
335 Characterization of a family with rare deletions in CNTNAP5 and DOCK4 suggests novel risk loci for autism and dyslexia.Biol Psychiatry. 2010 Aug 15;68(4):320-8. doi: 10.1016/j.biopsych.2010.02.002. Epub 2010 Mar 26.
336 Loss of COMMD1 and copper overload disrupt zinc homeostasis and influence an autism-associated pathway at glutamatergic synapses.Biometals. 2014 Aug;27(4):715-30. doi: 10.1007/s10534-014-9764-1. Epub 2014 Jul 10.
337 Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission.Sci Adv. 2019 Sep 25;5(9):eaax2166. doi: 10.1126/sciadv.aax2166. eCollection 2019 Sep.
338 Two patients with balanced translocations and autistic disorder: CSMD3 as a candidate gene for autism found in their common 8q23 breakpoint area.Eur J Hum Genet. 2008 Jun;16(6):696-704. doi: 10.1038/ejhg.2008.7. Epub 2008 Feb 13.
339 The autism/neuroprotection-linked ADNP/NAP regulate the excitatory glutamatergic synapse.Transl Psychiatry. 2019 Jan 15;9(1):2. doi: 10.1038/s41398-018-0357-6.
340 Improved memory and reduced anxiety in -catenin transgenic mice.Exp Neurol. 2019 Aug;318:22-31. doi: 10.1016/j.expneurol.2019.04.006. Epub 2019 Apr 11.
341 Identification of the human cortactin-binding protein-2 gene from the autism candidate region at 7q31.Genomics. 2001 Nov;78(1-2):7-11. doi: 10.1006/geno.2001.6651.
342 Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures.Eur J Hum Genet. 2019 May;27(5):747-759. doi: 10.1038/s41431-018-0331-z. Epub 2019 Jan 21.
343 Association and gene-gene interactions study of reelin signaling pathway related genes with autism in the Han Chinese population.Autism Res. 2016 Apr;9(4):436-42. doi: 10.1002/aur.1540. Epub 2015 Aug 19.
344 Cloning and expression analysis of a novel gene, RP42, mapping to an autism susceptibility locus on 6q16.Genomics. 2000 Apr 1;65(1):70-4. doi: 10.1006/geno.2000.6126.
345 Recessive DEAF1 mutation associates with autism, intellectual disability, basal ganglia dysfunction and epilepsy. J Med Genet. 2015 Sep;52(9):607-11. doi: 10.1136/jmedgenet-2015-103083. Epub 2015 Jun 5.
346 Evidence for alterations in stimulatory G proteins and oxytocin levels in children with autism.Psychoneuroendocrinology. 2014 Feb;40:159-69. doi: 10.1016/j.psyneuen.2013.11.014. Epub 2013 Nov 26.
347 A double hit implicates DIAPH3 as an autism risk gene.Mol Psychiatry. 2011 Apr;16(4):442-51. doi: 10.1038/mp.2010.26. Epub 2010 Mar 23.
348 Autism candidate gene DIP2A regulates spine morphogenesis via acetylation of cortactin.PLoS Biol. 2019 Oct 10;17(10):e3000461. doi: 10.1371/journal.pbio.3000461. eCollection 2019 Oct.
349 Disrupted in Schizophrenia 1 forms pathological aggresomes that disrupt its function in intracellular transport.Hum Mol Genet. 2012 May 1;21(9):2017-28. doi: 10.1093/hmg/dds018. Epub 2012 Jan 30.
350 DIXDC1 contributes to psychiatric susceptibility by regulating dendritic spine and glutamatergic synapse density via GSK3 and Wnt/-catenin signaling.Mol Psychiatry. 2018 Feb;23(2):467-475. doi: 10.1038/mp.2016.184. Epub 2016 Oct 18.
351 Expression analysis and mutation detection of DLX5 and DLX6 in autism.Brain Dev. 2010 Feb;32(2):98-104. doi: 10.1016/j.braindev.2008.12.021. Epub 2009 Feb 4.
352 Family-based association study of DYX1C1 variants in autism.Eur J Hum Genet. 2005 Jan;13(1):127-30. doi: 10.1038/sj.ejhg.5201272.
353 Molecular genetics of the platelet serotonin system in first-degree relatives of patients with autism.Neuropsychopharmacology. 2008 Jan;33(2):353-60. doi: 10.1038/sj.npp.1301406. Epub 2007 Apr 4.
354 Elevated transcription factor specificity protein 1 in autistic brains alters the expression of autism candidate genes.Biol Psychiatry. 2012 Mar 1;71(5):410-8. doi: 10.1016/j.biopsych.2011.09.020. Epub 2011 Oct 26.
355 Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA.Am J Hum Genet. 2016 Jan 7;98(1):58-74. doi: 10.1016/j.ajhg.2015.11.023. Epub 2015 Dec 31.
356 Association of oligodendrocytes differentiation regulator gene DUSP15 with autism.World J Biol Psychiatry. 2017 Mar;18(2):143-150. doi: 10.1080/15622975.2016.1178395. Epub 2016 May 25.
357 Heritable genotype contrast mining reveals novel gene associations specific to autism subgroups.J Biomed Inform. 2018 Jan;77:50-61. doi: 10.1016/j.jbi.2017.11.016. Epub 2017 Nov 29.
358 Common Genetic Variants Link the Abnormalities in the Gut-Brain Axis in Prematurity and Autism.Cerebellum. 2019 Apr;18(2):255-265. doi: 10.1007/s12311-018-0970-1.
359 Speech-specific categorical perception deficit in autism: An Event-Related Potential study of lexical tone processing in Mandarin-speaking children.Sci Rep. 2017 Feb 22;7:43254. doi: 10.1038/srep43254.
360 Haplotype structure enables prioritization of common markers and candidate genes in autism spectrum disorder.Transl Psychiatry. 2013 May 28;3(5):e262. doi: 10.1038/tp.2013.38.
361 Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits.Eur J Hum Genet. 2014 Jan;22(1):64-70. doi: 10.1038/ejhg.2013.101. Epub 2013 Jun 12.
362 Retinal defects in mice lacking the autism-associated gene Engrailed-2.Neuroscience. 2019 Jun 1;408:177-190. doi: 10.1016/j.neuroscience.2019.03.061. Epub 2019 Apr 10.
363 Association of autism in two patients with hereditary multiple exostoses caused by novel deletion mutations of EXT1.J Hum Genet. 2002;47(5):262-5. doi: 10.1007/s100380200036.
364 Heterozygous FA2H mutations in autism spectrum disorders. BMC Med Genet. 2013 Dec 3;14:124. doi: 10.1186/1471-2350-14-124.
365 Polymorphism screening of brain-expressed FABP7, 5 and 3 genes and association studies in autism and schizophrenia in Japanese subjects.J Hum Genet. 2010 Feb;55(2):127-30. doi: 10.1038/jhg.2009.133. Epub 2010 Jan 8.
366 A genome wide association study of mathematical ability reveals an association at chromosome 3q29, a locus associated with autism and learning difficulties: a preliminary study.PLoS One. 2014 May 6;9(5):e96374. doi: 10.1371/journal.pone.0096374. eCollection 2014.
367 Scan statistic-based analysis of exome sequencing data identifies FAN1 at 15q13.3 as a susceptibility gene for schizophrenia and autism.Proc Natl Acad Sci U S A. 2014 Jan 7;111(1):343-8. doi: 10.1073/pnas.1309475110. Epub 2013 Dec 16.
368 Genetic determinants of autism in individuals with deletions of 18q.Hum Genet. 2010 Aug;128(2):155-64. doi: 10.1007/s00439-010-0839-y. Epub 2010 May 25.
369 Activating killer-cell immunoglobulin-like receptors (KIR) and their cognate HLA ligands are significantly increased in autism.Brain Behav Immun. 2012 Oct;26(7):1122-7. doi: 10.1016/j.bbi.2012.07.014. Epub 2012 Aug 3.
370 Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. Nat Genet. 2006 Mar;38(3):337-42. doi: 10.1038/ng1743. Epub 2006 Jan 29.
371 Paternal age effects on sperm FOXK1 and KCNA7 methylation and transmission into the next generation.Hum Mol Genet. 2016 Nov 15;25(22):4996-5005. doi: 10.1093/hmg/ddw328.
372 Over-expressed LOC101927196 suppressed oxidative stress levels and neuron cell proliferation in a rat model of autism through disrupting the Wnt signaling pathway by targeting FZD3.Cell Signal. 2019 Oct;62:109328. doi: 10.1016/j.cellsig.2019.05.013. Epub 2019 May 27.
373 Expression of GABA(B) receptors is altered in brains of subjects with autism.Cerebellum. 2009 Mar;8(1):64-9. doi: 10.1007/s12311-008-0075-3.
374 The effect of folic acid on GABA(A)-B 1 receptor subunit. Adv Exp Med Biol. 2013;775:101-9. doi: 10.1007/978-1-4614-6130-2_8.
375 An inversion inv(4)(p12-p15.3) in autistic siblings implicates the 4p GABA receptor gene cluster.J Med Genet. 2006 May;43(5):429-34. doi: 10.1136/jmg.2005.039693. Epub 2006 Mar 23.
376 Genetic and functional analyses demonstrate a role for abnormal glycinergic signaling in autism. Mol Psychiatry. 2016 Jul;21(7):936-45. doi: 10.1038/mp.2015.139. Epub 2015 Sep 15.
377 Evidence for involvement of GNB1L in autism.Am J Med Genet B Neuropsychiatr Genet. 2012 Jan;159B(1):61-71. doi: 10.1002/ajmg.b.32002. Epub 2011 Nov 16.
378 A NGS-Targeted Autism/ID Panel Reveals Compound Heterozygous GNB5 Variants in a Novel Patient.Front Genet. 2018 Dec 12;9:626. doi: 10.3389/fgene.2018.00626. eCollection 2018.
379 Distinct roles for extracellular and intracellular domains in neuroligin function at inhibitory synapses.Elife. 2016 Nov 2;5:e19236. doi: 10.7554/eLife.19236.
380 Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathways.Hum Mol Genet. 2007 Jul 15;16(14):1682-98. doi: 10.1093/hmg/ddm116. Epub 2007 May 21.
381 CASPR2 forms a complex with GPR37 via MUPP1 but not with GPR37(R558Q), an autism spectrum disorder-related mutation.J Neurochem. 2015 Aug;134(4):783-93. doi: 10.1111/jnc.13168. Epub 2015 Jun 3.
382 Potential of GRID2 receptor gene for preventing TNF-induced neurodegeneration in autism.Neurosci Lett. 2016 May 4;620:62-9. doi: 10.1016/j.neulet.2016.03.043. Epub 2016 Mar 25.
383 A Rare Variant Identified Within the GluN2B C-Terminus in a Patient with Autism Affects NMDA Receptor Surface Expression and Spine Density.J Neurosci. 2017 Apr 12;37(15):4093-4102. doi: 10.1523/JNEUROSCI.0827-16.2017. Epub 2017 Mar 10.
384 Epigenetics and autism spectrum disorder: A report of an autism case with mutation in H1 linker histone HIST1H1E and literature review.Am J Med Genet B Neuropsychiatr Genet. 2018 Jun;177(4):426-433. doi: 10.1002/ajmg.b.32631. Epub 2018 Apr 27.
385 UBE3A-mediated regulation of imprinted genes and epigenome-wide marks in human neurons.Epigenetics. 2017;12(11):982-990. doi: 10.1080/15592294.2017.1376151. Epub 2017 Nov 6.
386 Association of autism with polymorphisms in the paired-like homeodomain transcription factor 1 (PITX1) on chromosome 5q31: a candidate gene analysis.BMC Med Genet. 2007 Dec 6;8:74. doi: 10.1186/1471-2350-8-74.
387 Microphthalmia with Linear Skin Defects (MLS) associated with Autism Spectrum Disorder (ASD) in a patient with Familial 12.9Mb Terminal Xp deletion.BMC Pediatr. 2014 Sep 2;14:220. doi: 10.1186/1471-2431-14-220.
388 High-throughput sequencing of mGluR signaling pathway genes reveals enrichment of rare variants in autism.PLoS One. 2012;7(4):e35003. doi: 10.1371/journal.pone.0035003. Epub 2012 Apr 27.
389 Study of HOXD genes in autism particularly regarding the ratio of second to fourth digit length.Brain Dev. 2010 May;32(5):356-61. doi: 10.1016/j.braindev.2009.05.005. Epub 2009 Jun 18.
390 Hypo-phosphorylation of salivary peptidome as a clue to the molecular pathogenesis of autism spectrum disorders.J Proteome Res. 2008 Dec;7(12):5327-32. doi: 10.1021/pr8004088.
391 Allelic variants in HTR3C show association with autism.Am J Med Genet B Neuropsychiatr Genet. 2009 Jul 5;150B(5):741-6. doi: 10.1002/ajmg.b.30882.
392 Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder. Am J Hum Genet. 2013 Feb 7;92(2):221-37. doi: 10.1016/j.ajhg.2012.12.016. Epub 2013 Jan 31.
393 Family-based association study of ZNF533, DOCK4 and IMMP2L gene polymorphisms linked to autism in a northeastern Chinese Han population.J Zhejiang Univ Sci B. 2014 Mar;15(3):264-71. doi: 10.1631/jzus.B1300133.
394 Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability. J Clin Invest. 2020 Mar 2;130(3):1431-1445. doi: 10.1172/JCI131145.
395 Katanin-like protein Katnal2 is required for ciliogenesis and brain development in Xenopus embryos.Dev Biol. 2018 Oct 15;442(2):276-287. doi: 10.1016/j.ydbio.2018.08.002. Epub 2018 Aug 8.
396 Neph2/Kirrel3 regulates sensory input, motor coordination, and home-cage activity in rodents.Genes Brain Behav. 2018 Nov;17(8):e12516. doi: 10.1111/gbb.12516. Epub 2018 Sep 14.
397 Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy. Am J Hum Genet. 2019 Jun 6;104(6):1210-1222. doi: 10.1016/j.ajhg.2019.03.021. Epub 2019 May 9.
398 LAMB1 polymorphism is associated with autism symptom severity in Korean autism spectrum disorder patients.Nord J Psychiatry. 2015;69(8):594-8. doi: 10.3109/08039488.2015.1022597. Epub 2015 Mar 16.
399 Association of transcription factor gene LMX1B with autism.PLoS One. 2011;6(8):e23738. doi: 10.1371/journal.pone.0023738. Epub 2011 Aug 25.
400 Autism-like behaviours and enhanced memory formation and synaptic plasticity in Lrfn2/SALM1-deficient mice.Nat Commun. 2017 Jun 12;8:15800. doi: 10.1038/ncomms15800.
401 Structural basis of SALM5-induced PTP dimerization for synaptic differentiation.Nat Commun. 2018 Jan 18;9(1):268. doi: 10.1038/s41467-017-02414-2.
402 Association study between genes in Reelin signaling pathway and autism identifies DAB1 as a susceptibility gene in a Chinese Han population.Prog Neuropsychopharmacol Biol Psychiatry. 2013 Jul 1;44:226-32. doi: 10.1016/j.pnpbp.2013.01.004. Epub 2013 Jan 17.
403 Examination of NRCAM, LRRN3, KIAA0716, and LAMB1 as autism candidate genes.BMC Med Genet. 2004 May 5;5:12. doi: 10.1186/1471-2350-5-12.
404 Three patients with Schaaf-Yang syndrome exhibiting arthrogryposis and endocrinological abnormalities.Am J Med Genet A. 2018 Mar;176(3):707-711. doi: 10.1002/ajmg.a.38606. Epub 2018 Jan 23.
405 Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations. Neuron. 2018 Dec 19;100(6):1354-1368.e5. doi: 10.1016/j.neuron.2018.10.044. Epub 2018 Nov 15.
406 Novel variants identified in methyl-CpG-binding domain genes in autistic individuals.Neurogenetics. 2010 Jul;11(3):291-303. doi: 10.1007/s10048-009-0228-7. Epub 2009 Nov 18.
407 The expanding role of MBD genes in autism: identification of a MECP2 duplication and novel alterations in MBD5, MBD6, and SETDB1.Autism Res. 2012 Dec;5(6):385-97. doi: 10.1002/aur.1251. Epub 2012 Oct 10.
408 DBS is activated by EPHB2/SRC signaling-mediated tyrosine phosphorylation in HEK293 cells.Mol Cell Biochem. 2019 Sep;459(1-2):83-93. doi: 10.1007/s11010-019-03552-5. Epub 2019 May 14.
409 Transmitted duplication of 8p23.1-8p23.2 associated with speech delay, autism and learning difficulties.Eur J Hum Genet. 2009 Jan;17(1):37-43. doi: 10.1038/ejhg.2008.133. Epub 2008 Aug 20.
410 Emerging roles for MEF2 in brain development and mental disorders.Curr Opin Neurobiol. 2019 Dec;59:49-58. doi: 10.1016/j.conb.2019.04.008. Epub 2019 May 23.
411 Genetic variants in the transcription regulatory region of MEGF10 are associated with autism in Chinese Han population.Sci Rep. 2017 May 23;7(1):2292. doi: 10.1038/s41598-017-02348-1.
412 Duplication of the 15q11-q13 region: clinical and genetic study of 30 new cases.Eur J Med Genet. 2014 Jan;57(1):5-14. doi: 10.1016/j.ejmg.2013.10.008. Epub 2013 Nov 12.
413 Deletion 2q37.3 and autism: molecular cytogenetic mapping of the candidate region for autistic disorder.Genet Couns. 2004;15(3):293-301.
414 Mov10 suppresses retroelements and regulates neuronal development and function in the developing brain.BMC Biol. 2017 Jun 29;15(1):54. doi: 10.1186/s12915-017-0387-1.
415 Germline mosaic transmission of a novel duplication of PXDN and MYT1L to two male half-siblings with autism.Psychiatr Genet. 2012 Jun;22(3):137-40. doi: 10.1097/YPG.0b013e32834dc3f5.
416 NBEA: Developmental disease gene with early generalized epilepsy phenotypes. Ann Neurol. 2018 Nov;84(5):788-795. doi: 10.1002/ana.25350. Epub 2018 Oct 25.
417 NCAM2 deletion in a boy with macrocephaly and autism: Cause, association or predisposition?.Eur J Med Genet. 2016 Oct;59(10):493-8. doi: 10.1016/j.ejmg.2016.08.006. Epub 2016 Sep 2.
418 No association of polymorphisms in the CDK5, NDEL1, and LIS1 with autism in Chinese Han population.Psychiatry Res. 2011 Dec 30;190(2-3):369-71. doi: 10.1016/j.psychres.2011.08.004. Epub 2011 Sep 3.
419 The NADH-ubiquinone oxidoreductase 1 alpha subcomplex 5 (NDUFA5) gene variants are associated with autism.Acta Psychiatr Scand. 2011 Feb;123(2):118-24. doi: 10.1111/j.1600-0447.2010.01600.x. Epub 2010 Sep 5.
420 Correction: Educational delay and attainment in persons with neurofibromatosis 1 in Denmark.Eur J Hum Genet. 2019 Jun;27(6):994-996. doi: 10.1038/s41431-019-0378-5.
421 Associations between autistic-like traits and polymorphisms in NFKBIL1.Acta Neuropsychiatr. 2019 Aug;31(4):220-229. doi: 10.1017/neu.2019.18. Epub 2019 Jun 4.
422 Microduplications at the 15q11.2 BP1-BP2 locus are enriched in patients with anorexia nervosa.J Psychiatr Res. 2019 Jun;113:34-38. doi: 10.1016/j.jpsychires.2019.01.021. Epub 2019 Jan 29.
423 Correction: Functional significance of rare neuroligin 1 variants found in autism.PLoS Genet. 2017 Oct 3;13(10):e1007035. doi: 10.1371/journal.pgen.1007035. eCollection 2017 Oct.
424 A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea.Eur J Med Genet. 2008 Nov-Dec;51(6):631-8. doi: 10.1016/j.ejmg.2008.06.010. Epub 2008 Jul 16.
425 Human-Specific NOTCH2NL Genes Affect Notch Signaling and Cortical Neurogenesis.Cell. 2018 May 31;173(6):1356-1369.e22. doi: 10.1016/j.cell.2018.03.051. Epub 2018 May 31.
426 Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.
427 Duplication of OCRL and adjacent genes associated with autism but not Lowe syndrome.Am J Med Genet A. 2012 Oct;158A(10):2602-5. doi: 10.1002/ajmg.a.35566. Epub 2012 Sep 10.
428 Molecular analysis of the oligodendrocyte myelin glycoprotein gene in autistic disorder.Neurosci Lett. 2003 Feb 27;338(2):115-8. doi: 10.1016/s0304-3940(02)01338-1.
429 2p15-p16.1 microdeletion syndrome: molecular characterization and association of the OTX1 and XPO1 genes with autism spectrum disorders.Eur J Hum Genet. 2011 Dec;19(12):1264-70. doi: 10.1038/ejhg.2011.112. Epub 2011 Jul 13.
430 Identification of a rare 17p13.3 duplication including the BHLHA9 and YWHAE genes in a family with developmental delay and behavioural problems.BMC Med Genet. 2012 Oct 4;13:93. doi: 10.1186/1471-2350-13-93.
431 Association of brain-derived neurotrophic factor (BDNF) haploinsufficiency with lower adaptive behaviour and reduced cognitive functioning in WAGR/11p13 deletion syndrome.Cortex. 2013 Nov-Dec;49(10):2700-10. doi: 10.1016/j.cortex.2013.02.009. Epub 2013 Feb 19.
432 Sociability Deficits and Altered Amygdala Circuits in Mice Lacking Pcdh10, an Autism Associated Gene.Biol Psychiatry. 2017 Feb 1;81(3):193-202. doi: 10.1016/j.biopsych.2016.06.008. Epub 2016 Jun 16.
433 Expression and genetic variability of PCDH11Y, a gene specific to Homo sapiens and candidate for susceptibility to psychiatric disorders.Am J Med Genet B Neuropsychiatr Genet. 2006 Jan 5;141B(1):67-70. doi: 10.1002/ajmg.b.30229.
434 Autism-like behaviors in male mice with a Pcdh19 deletion.Mol Brain. 2019 Nov 20;12(1):95. doi: 10.1186/s13041-019-0519-3.
435 A genome-wide survey of transgenerational genetic effects in autism.PLoS One. 2013 Oct 24;8(10):e76978. doi: 10.1371/journal.pone.0076978. eCollection 2013.
436 Analysis of ten candidate genes in autism by association and linkage.Am J Med Genet. 2002 Mar 8;114(2):125-8.
437 The bacterial peptidoglycan-sensing molecule Pglyrp2 modulates brain development and behavior.Mol Psychiatry. 2017 Feb;22(2):257-266. doi: 10.1038/mp.2016.182. Epub 2016 Nov 15.
438 Pianp deficiency links GABA(B) receptor signaling and hippocampal and cerebellar neuronal cell composition to autism-like behavior.Mol Psychiatry. 2020 Nov;25(11):2979-2993. doi: 10.1038/s41380-019-0519-9. Epub 2019 Sep 11.
439 A PIGH mutation leading to GPI deficiency is associated with developmental delay and autism. Hum Mutat. 2018 Jun;39(6):827-829. doi: 10.1002/humu.23426. Epub 2018 Apr 26.
440 A genome-wide scan for common alleles affecting risk for autism.Hum Mol Genet. 2010 Oct 15;19(20):4072-82. doi: 10.1093/hmg/ddq307. Epub 2010 Jul 27.
441 Large-scale methylation domains mark a functional subset of neuronally expressed genes.Genome Res. 2011 Oct;21(10):1583-91. doi: 10.1101/gr.119131.110. Epub 2011 Jul 22.
442 Rare inherited missense variants of POGZ associate with autism risk and disrupt neuronal development.J Genet Genomics. 2019 May 20;46(5):247-257. doi: 10.1016/j.jgg.2019.04.002. Epub 2019 May 18.
443 Understanding the Epilepsy in POLG Related Disease.Int J Mol Sci. 2017 Aug 24;18(9):1845. doi: 10.3390/ijms18091845.
444 SCAMP5, NBEA and AMISYN: three candidate genes for autism involved in secretion of large dense-core vesicles.Hum Mol Genet. 2010 Apr 1;19(7):1368-78. doi: 10.1093/hmg/ddq013. Epub 2010 Jan 12.
445 DRD2 and PPP1R1B (DARPP-32) polymorphisms independently confer increased risk for autism spectrum disorders and additively predict affected status in male-only affected sib-pair families.Behav Brain Funct. 2012 May 4;8:19. doi: 10.1186/1744-9081-8-19.
446 Synaptic P-Rex1 signaling regulates hippocampal long-term depression and autism-like social behavior.Proc Natl Acad Sci U S A. 2015 Dec 15;112(50):E6964-72. doi: 10.1073/pnas.1512913112. Epub 2015 Nov 30.
447 Evidence for a susceptibility gene for autism on chromosome 2 and for genetic heterogeneity.Am J Hum Genet. 2001 Jun;68(6):1514-20. doi: 10.1086/320588. Epub 2001 May 14.
448 Teaching Literacy Skills to French Minimally Verbal School-Aged Children with Autism Spectrum Disorders with the Serious Game SEMA-TIC: An Exploratory Study.Front Psychol. 2017 Sep 5;8:1523. doi: 10.3389/fpsyg.2017.01523. eCollection 2017.
449 RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism.Sci Rep. 2016 Jan 8;6:19088. doi: 10.1038/srep19088.
450 Expanding the neurodevelopmental phenotype of PURA syndrome.Am J Med Genet A. 2018 Jan;176(1):56-67. doi: 10.1002/ajmg.a.38521. Epub 2017 Nov 17.
451 Embryonic stem cell transplants as a therapeutic strategy in a rodent model of autism.Neuropsychopharmacology. 2018 Jul;43(8):1789-1798. doi: 10.1038/s41386-018-0021-0. Epub 2018 Feb 7.
452 Dysregulation of Th1, Th2, Th17, and T regulatory cell-related transcription factor signaling in children with autism.Mol Neurobiol. 2017 Aug;54(6):4390-4400. doi: 10.1007/s12035-016-9977-0. Epub 2016 Jun 25.
453 A de novo apparently balanced translocation [46,XY,t(2;9)(p13;p24)] interrupting RAB11FIP5 identifies a potential candidate gene for autism spectrum disorder.Am J Med Genet B Neuropsychiatr Genet. 2008 Jun 5;147B(4):411-7. doi: 10.1002/ajmg.b.30755.
454 Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly. Am J Hum Genet. 2010 Feb 12;86(2):185-95. doi: 10.1016/j.ajhg.2010.01.011.
455 Mind Bomb-Binding Partner RanBP9 Plays a Contributory Role in Retinal Development.Mol Cells. 2017 Apr;40(4):271-279. doi: 10.14348/molcells.2017.2308. Epub 2017 Mar 28.
456 Possible association of c-Harvey-Ras-1 (HRAS-1) marker with autism.Psychiatry Res. 1993 Mar;46(3):261-7. doi: 10.1016/0165-1781(93)90094-w.
457 Identification and characterization of the TRIP8 and REEP3 genes on chromosome 10q21.3 as novel candidate genes for autism.Eur J Hum Genet. 2007 Apr;15(4):422-31. doi: 10.1038/sj.ejhg.5201785. Epub 2007 Feb 7.
458 A functional polymorphism in the reduced folate carrier gene and DNA hypomethylation in mothers of children with autism.Am J Med Genet B Neuropsychiatr Genet. 2010 Sep;153B(6):1209-20. doi: 10.1002/ajmg.b.31094.
459 High-throughput screening and classification of chemicals and their effects on neuronal gene expression using RASL-seq.Sci Rep. 2019 Mar 14;9(1):4529. doi: 10.1038/s41598-019-39016-5.
460 Rab3 interacting molecule 3 mutations associated with autism alter regulation of voltage-dependent Ca?channels.Cell Calcium. 2015 Sep;58(3):296-306. doi: 10.1016/j.ceca.2015.06.007. Epub 2015 Jun 23.
461 Syndromic X-linked intellectual disability segregating with a missense variant in RLIM. Eur J Hum Genet. 2015 Dec;23(12):1652-6. doi: 10.1038/ejhg.2015.30. Epub 2015 Mar 4.
462 Gene expression in blood is associated with risperidone response in children with autism spectrum disorders.Pharmacogenomics J. 2012 Oct;12(5):368-71. doi: 10.1038/tpj.2011.23. Epub 2011 Jun 7.
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