Spreadsheet: 726053b6-7e87-432a-8ada-1a14589f826d
Sheet: AutDB Database

Supplementary Table S1a.  AutDB Database Gene List of all implicated genes in Autism Spectrum Disorders (accessed 2/16/11)
[NAME] | [NAME] GeneID | [NAME] | Chromosomal Location | Evidence of Support | Number of gene association studies | Number of positive association studies | Number of negative association studies | Support for Autism | UniprotID | [NAME] | OMIM | Molecular Function | Alternate Names | Positive Reference | Primay Reference | Negative Reference | Most cited paper | Most Recent Papers
A2BP1 | 54715 | ataxin 2-binding protein 1 | 16p13.3 | Rare single gene mutation / Genetic association | 2 | 1 | 0 | De novo CNV | Q9NWB1 |  |  | sequence-specific RNA recognition, splicing regulators | A2BP1, FOX1, HRNBP1 | 17503474 | 17363630 | 0 | 10814712 | 20724578, 19762510, 19190090, 18978772, 18794351, 18573872, 16362037, 17101796
ABAT | 18 | 4-aminobutyrate aminotransferase | 16p13.2 | Association | 1 | 1 | 0 | Genetic association | P80404 |  |  | The encoded protein mediates catabolism of GABA into succinic semialdehyde. | GABAT, NPD009, GABA-AT, GABA transaminase | 15830322 | 15830322 | 0 | 3092125, 9554704 | 16793827
ADA | 100 | adenosine deaminase | 20q12-q13.11 | Association | 3 | 3 | 0 | Strong | P00813 | 115442 | 608958 | The encoded protein catalyzes the hydrolysis of adenosine to inosine. | NA | 17340203, 11354825, 11121182 | 11354825 | 0 | 4117384 | 16258000
ADORA2A | 135 | adenosine A2a receptor | 22q11.23 | Genetic association | 1 | 1 | 0 | Nominal association with the disorder was observed for rs2236624-CC, and phenotypic variability in ASD symptoms was influenced by rs3761422, rs5751876 and rs35320474 | P29274 |  |  | The encoded protein is a receptor subtypes for adenosine | RDC8; hA2aR; ADORA2 | 19565319 | 19565319 | 0 | 7953635, 9262401 | 19443488, 18184569, 18953346, 18832607
ADRB2 | 154 | adrenergic, beta-2-, receptor, surface | 5q31-q32 | Association | 2 | 2 | 0 | Association | P07550 |  |  | This gene encodes beta-2-adrenergic receptor which is a member of the G protein- coupled receptor superfamily. | BAR, B2AR, ADRBR, ADRB2R, BETA2AR | 17199132, 16417856 | 17199132 | 0 | 8837779, 9363896 | 18485874, 17962520, 17952055,17175110, 17179741
ADSL | 158 | adenylosuccinate lyase | 22q13.1, 22q13.2 | Syndromic autism | 4 | 0 | 0 | Seconday autism in a subset of individuals with adenylosuccinate lyase deficienc y. | P30566 |  | 608222 | The encoded protein mediates de novo synthesis of purines and formation of adeno sine monophosphate from inosine monophosphate. | NA | 0 | 15471876 | 0 | 6150139, 1302001 | 16403972
AGTR2 | 186 | angiotensin II receptor, type 2 | Xq22-q23 | Syndromic autism | 1 | 0 | 0 | Seconday autism in a subset of individuals with disruption in AGTR2. | P50052 |  | 300034 | The encoded protein has angiotensin type II receptor activity. | AT2, ATGR2, MRX88 | 0 | 12089445 | 0 | 12089445 | 16769992
AHI1 | 54806 | [NAME] helper integration site 1 | 6q23.3 | Syndromic / Association | 2 | 1 | 0 | Syndromic / Association | [NAME] |  |  | modular protein that contains one SH3 motif and seven WD40 repeats | ORF1; AHI-1; JBTS3; FLJ14023; FLJ20069; dJ71N10.1; DKFZp686J1653 | 18782849 | 18782849 | 0 | 15467982, 15322546 | 18950740, 18636121, 16244321
ALDH5A1 | 7915 | aldehyde dehydrogenase 5 family, member [NAME] (succinate-semialdehyde dehydrogenase ) | 6p22.2-p22.3 | Syndromic autism | 1 | 0 | 0 | Autism in some individuals with succinic semialdehyde dehydrogenase deficiency. | P51649 |  | 610045 | The encoded protein is a mitochondrial NAD(+)-dependent succinic semialdehyde de hydrogenase. | SSDH, SSADH | 0 | 12743223 | 0 | 8689400 | 1650448, 15341910
[NAME] | 241 | arachidonate 5-lipoxygenase-activating protein | 13q12 | Functional | 1 | 0 | 0 | Differential expression in lymphoid cell lines from individuals with autism spec trum disorders. | P20292 |  |  | The encoded protein mediates leukotriene synthesis. | FLAP | 0 | 16709250 | 0 | 2300173, 8522947 | 16698924
ANKRD11 | 29123 | ankyrin repeat domain 11 | 16q24.3 | Rare single gene mutation | 1 | 0 | 0 | CNV | [NAME] |  |  | Transcription factor | T13; LZ16; ANCO-1 | 0 | 18252227 | 0 | 15184363 | 19920853, 18840648, 18377363, 17286281
APC | 324 | adenomatosis polyposis coli | 5q21-q22 | Association / Rare single gene mutation | 2 | 1 | 0 | Mixed | P25054 | 144332 | 175100 | The encoded protein is a tumor supressor. | GS, DP2, DP3, FAP, FPC, DP2.5 | 17221838 | 8071957 | 0 | 9065402 | 16407829
AR | 367 | Androgen Receptor | Xq11.2-q12 | Association | 1 | 1 | 0 |  | P10275 |  |  | The protein functions as a steroid-hormone activated transcription factor. |  | 19167832 | 19167832 | 0 | 2062380, 16272115 | 16603237, 18467440, 18799683
ARNT2 | 9915 | aryl-hydrocarbon receptor nuclear translocator 2 | 15q24 | Candidate gene assocaition | 1 | 1 | 0 | Nominal significance at P < 0.05 with both autistic traits and AS case-control studies | Q9HBZ2 |  |  | A member of the basic-helix-loop-helix-Per-Arnt-Sim (bHLH-PAS) superfamily of transcription factors | bHLHe1; KIAA0307 | 19598235 | 19598235 | 0 | 9545558, 11381139, 11318878 | 19234064,  19074369
ARX | 170302 | aristaless related homeobox | Xp22.1-22.3 | Syndromic autism | 3 | 0 | 0 | Autism in some individuals with | Q96QS3 |  | 300382 | The encoded protein is a transcription factor. | aristaless related homeobox,ISSX, PRTS, MRX36, MRX43, MRX54, MRXS1 | 0 | 14631200 | 0 | 12142061, 12376946, 11971879 | 16650978
ASMT | 438 | acetylserotonin O-methyltransferase | [NAME] or Yp11.3 | Genetic association | 1 | 1 | 0 | Association | P46597 |  |  | melatonin biosynthesis | ASMTY, HIOMT, HIOMTY, [NAME] | 17505466 | 17505466 | 0 | 487129, 14275158 | 17204557
ASS | 445 | argininosuccinate synthetase | 9q34.1 | Functional | 1 | 0 | 0 | Differential expression in lymphoid cell lines from individuals with autism spec trum disorders. | P00966 |  |  | The encoded protein has argininosuccinate synthase activity. | ASS1, CTLN1 | 0 | 16709250 | 0 | 7507106 | 16580861
ASTN2 | 23245 | astrotactin 2 | Chromosome 9: 118,227,328-119,217,138 | [NAME] | 1 | 0 | 0 | CNV from GWAS study | O75129 |  |  | neuronal - astroglial interaction | RP11-45A16.2, KIAA0634, bA67K19.1 | 0 | 19404257 | 0 | 3276720 | 18839057, 3276720
[NAME] | 57194 | Probable phospholipid-transporting ATPase VA | 15q11.2 | Yes/No Association | 2 | 1 | 1 | Genetic association | [NAME] |  | 605855 | The encoded protein is a member of the aminophospholipid-transporting ATPase fam ily. | ATP10C | 12851639 | 12851639 | 11857573 | 11326269 | 16517145
AUTS2 | 26053 | autism susceptibility candidate 2 | 7q11.22 | Rare single gene mutation | 1 | 0 | 0 | Cytogenetic evidence | Q5D049 |  |  | unknown | NA | 0 | 12160723 | 0 | 12160723 | 19948250, 19567891, 19546859, 17211639, 16395125
AVPR1A | 552 | arginine vasopressin receptor 1A | 12q14-q15 | Association | 3 | 3 | 0 | Strong | [NAME] | 123464 |  | The encoded protein is a receptor for arginine vasopressin. It belongs to the G -protein coupled receptor family. | NA | 16520824,15098001, 12082568 | 16520824 | 0 | 10466725 | 15947188, 16205790, 16504276
BZRAP1 | 9256 | benzodiazapine receptor (peripheral) associated protein 1 | 17q22-q23 | Rare single gene mutation | 1 | 1 | 0 | Rare variants in exonic deletion loci  identified in both discovery and replication cohorts, but none of 2539 controls | O95153 |  | Multi-domain adaptor protein |  | PRAX1; PRAX-1; RIMBP1; RIM-BP1; KIAA0612; DKFZp686F02123; BZRAP1 | 19557195 | 19557195 | 0 | 10748113, 9915832 | 19751509
C3orf58 | 205428 | chromosome 3 open reading frame 58 | 3q24 | Rare single gene mutation | 1 | 0 | 0 | CNV | Q8NDZ4 |  |  | unknown | DIA1 | 0 | 18621663 | 0
C4B | 721 | complement component 4B | 6p21.3 | Association | 3 | 3 | 0 | Strong | P0C0L5 | 4133 |  | The encoded protein is part of the classical pathway of the complement system. | CH, C4A, C4F, CO4, C4B1, C4B2, C4B3, C4B5, C4A13, C4A91, C4B12, [NAME] | 15694999, 7760985, 8118537 | 15694999 | 0 | 6401549, 7541036 | 6401549
CA6 | 765 | carbonic anhydrase VI | 1p36.2 | Rare single gene mutation | 1 | 1 | 0 | Rare variants in exonic deletion loci  identified in both discovery and replication cohorts, but none of 2539 controls | P23280 |  |  | The protein encoded by this gene is one of several isozymes of carbonic anhydrase. | CA-VI; GUSTIN; MGC21256 | 19557195 | 19557195 | 0 | 10616163, 9784398,8761494, 6943587 | 18091364
CACNA1C | 775 | calcium channel, voltage-dependent, L type, alpha 1C subunit | 12p13.3 | Syndromic autism | 1 | 0 | 0 | Seconday autism in a subset of individuals with Timothy syndrome. | O95234 |  | 114205 | The encoded protein has low voltage-gated calcium channel activity. | TS, CACH2, CACN2, CaV1.2, CCHL1A1, CACNL1A1 | 0 | 15454078 | 0 | 11441182, 8622942 | 19074970, 19065143, 18711365, 18458091,18250309, 18174367, 17640527, 17698014, 1 6289402
CACNA1D | 776 | calcium channel, voltage-dependent, L type, alpha 1D | 3p14.3 | Functional | 1 | 0 | 0 | Functional | Q01668 |  | 114206 | The encoded protein has low voltage-gated calcium channel activity. | CACH3, CACN4, CCHL1A2, CACNL1A2 | 0 | 10611367 | 0 | 11285265 | 16172271
CACNA1F | 778 | calcium channel, voltage-dependent, alpha 1F | Xp11.23 | Syndromic autism | 1 | 0 | 0 | Syndromic | O60840 |  | 300110 | The encoded protein has low voltage-gated calcium channel activity. | JM8, JMC8, [NAME], [NAME] | 0 | 11441182 | 0 | 9662399 | 16650384, 16155113
CACNA1G | 8913 | calcium channel, voltage-dependent, T type, alpha 1G subunit | 17q22 | Genetic association | 1 | 1 | 0 | Markers within an interval containing the gene were found to be associated at a locally significant level, P=1.9 x 10(-5). | O43497 |  |  | Voltage-activated calcium channels | NBR13; Cav3.1; Ca(V)T.1; MGC117234 | 19455149 | 19455149 | 0 | 10493502, 11498049, 12853961 | 19520861, 19211869, 19003958
CACNA1H | 8912 | calcium channel, voltage-dependent, alpha 1H subunit | 16p13.3 | Rare single gene mutation | 1 | 0 | 0 | Missense mutations in ASD families | O95180 | 144937 |  | The encoded protein has low voltage-gated calcium channel activity. | T-type Ca(V)3.2 channels, CACNA1HB | 0 | 16754686 | 0 | 14729682 | 19144837, 19131331, 19052226, 18292205, 18230611, 18230611, 17215393, 17696120, 16759699
CADM1 | 23705 | cell adhesion molecule 1 | 11q23.2 | Rare single gene mutation | 1 | 0 | 0 | Two missense mutations, [NAME]) and A755C(Y251S),were identified in the CAD M1 gene of male Caucasian ASD patients and their family members | Q9BY67 |  |  | The gene encodes a brain-specific, immunoglobulin domain-containing protein. It binds to intracellular PDZ-domain proteins and functions as a homophilic cell ad hesion molecule at the synapse. | BL2; ST17; IGSF4; [NAME]; [NAME]; TSLC1; IGSF4A; Necl-2; SYNCAM; sgIGSF; sTSLC-1; synCAM1; MGC51880; MGC149785; DKFZp686F1789; CADM1 | 0 | 18957284 | 0 | 12202822 | 18606990, 18054859, 18615557
CADPS2 | 93664 | Ca2+-dependent activator protein for secretion 2 | 7q31.3 | Functional / No Association | 2 | 0 | 1 | Functional candidate; Positional candidate | Q658Q2 |  |  | The encoded protein has Calcium binding acitivity and mediates vesicle exocytosi s. | [NAME], [NAME] | 0 | 17380209 | 12659812 | 12659812 | 19238500, 17428348, 17344385
CBS | 875 | cystathionine beta-synthase | 21q22.3 | Functional | 1 | 0 | 1 | Homocystinuria is linked to psychiatric disturbance, intelligence, other CNS p roblems, and responsiveness to vitamin [NAME]. | P35520 |  | 236200 | The encoded protein catalyzes conversion of homocysteine to cystathionine. | HIP4 | 0 | 12227460 | 12227460 | 3872065 | 16842141
CCDC64 | 92558 | coiled-coil domain containing 64 | Chromosome 12: 118,912,031-119,016,682 | Genetic Association | 1 | 1 | 0 | Suggestive association signals (P < 1 X 10 -5) in the two discovery cohorts in GWA study | Q6ZP65 |  |  |  | FLJ26450, [NAME] | 19404256 | 19404256 | 0
CD44 | 960 | CD44 molecule (Indian blood group) | 11p13 | Functional | 1 | 0 | 0 | Differential expression in lymphoid cell lines from individuals with autism spec trum disorders. | P16070 |  |  | The encoded protein is a receptor for hyaluronic acid. It is a cell-surface gly coprotein involved in cell-cell interactions, cell adhesion and migration. | IN, LHR, MC56, MDU2, MDU3, MIC4, Pgp1, CDW44, HCELL, MUTCH-I, ECMR-III, MGC10468 | 0 | 16709250 | 0 | 1694723 | 16849507
CDH10 | 1008 | cadherin 10, type 2 (T2-cadherin) | Chromosome 5: 24,522,967-24,680,668 | Genetic Association | 1 | 1 | 0 | First GWA study. Six single nucleotide polymorphisms between CDH10 and CDH9 revealed strong association signals in GWAS study. | [NAME] |  | 604555 | cell adhesion |  | 19404256 | 19404256 | 0 | 10386616, 10861224 | 18084254,  16181616
CDH22 | 64405 | cadherin-like 22 | Chromosome 20: 44,235,783-44,313,741 | Genetic Association | 1 | 1 | 0 | Suggestive association signals (P < 1 X 10 -5) in the two discovery cohorts in GWA study | Q9UJ99 |  | 609920 | cell adhesion | C20orf25, MGC39564, dJ998H6.1 | 19404256 | 19404256 | 0 | 10727640 | 16896191
CDH9 | 1007 | cadherin 9, type 2 (T1-cadherin) | Chromosome 5: 26,916,466-27,074,446 | Genetic Association | 1 | 1 | 0 | First GWA study. Six single nucleotide polymorphisms between CDH10 and CDH9 revealed strong association signals in GWAS study. | Q9ULB4 |  | 609974 | cell adhesion | MGC125386 | 19404256 | 19404256 | 0 | 10861224 | 7668045
[NAME] | 6792 | cyclin-dependent kinase-like 5 | Xp22 | Syndromic autism | 3 | 0 | 0 | Seconday autism in a subset of individuals with Rett syndrome. | O76039 |  | 300203 | The encoded protein has serine/thronine kinase activity. | STK9 | 0 | 15492925 | 0 | 15492925 | 19241098, 16611748
CENTG2 | 116987 | centaurin, gamma 2 | 2p24.3-p24.1 | Rare single gene mutation / Association | 1 | 1* | 0 | Rare polymorphisms; Contradictory results for association | Q4ZG22 | 142193 |  | The encoded protein is a novel binding partner of nitric oxide-sensitive guanyly l cyclase | AGAP1, [NAME], KIAA1099, MGC71657 | 15892143 | 15892143 | 0 | 12388557 | 16332543, 15381706
CNR1 | 1268 | cannabinoid receptor 1 (brain) | 6q14-q15 | Functional | 1 | 0 | 0 | Interesting functional candidate | P21554 |  |  | The encoded protein has cannabinoid receptor activity. | CB1, CNR, CB-R, CB1A, CANN6, CB1K5 | 0 | 16623851 | 0 | 9888857, 10341254 | 16819552, 16723537,
CNTN4 | 152330 | contactin 4 | 3p26-p25 | Rare single gene mutation | 3 | 1 | 0 | Recurrent copy number variations | Q8IWV2 |  |  | Neuronal cell adhesion molecule | AXCAM; BIG-2; CNTN4A; MGC33615; CNTN4 | 19404257 | 18349135 | 0 | 8586965 | 18551756, 18367085
CNTNAP2 | 26047 | contactin associated protein-like 2 | 7q35-q36 | Genetic Association / Rare single gene mutation | 3 | 2 | 0 | Replication of genetic association | Q9UHC6.1 |  |  | This gene encodes a member of the neurexin family which functions in the vertebr ate nervous system as cell adhesion molecules and receptors. This protein is loc alized at the juxtaparanodes of myelinated axons and associated with potassium c hannels. | CDFE; NRXN4; CASPR2; DKFZp781D1846 | 18179893, 18179894 | 18179894 | 0 | 10624965 | 20176116, 20164332, 18987363, 18179895, 19109503, 19166515
CNTNAP5 | 129684 | contactin associated protein-like 5 | 2q14.3 | Rare single gene mutation | 1 | 0 | 0 | Three nonsynonymous mutations were detected in Caucasian ASD probands; A 227 kb exonic deletion in CNTNAP2 identified in a proband | Q8WYK1 |  |  | A multidomain transmembrane protein  involved in cell adhesion and intercellular communication | caspr5 | 0 | 20346443 | 0 | 16845472 | 20451256, 19721433
CTNNA3 | 29119 | catenin (cadherin-associated protein), alpha 3 | Chromosome 10: 67,349,875-69,125,933 | Genetic Association | 1 | 1 | 0 | Suggestive association signals (P < 1 X 10 -5) in the two discovery cohorts in GWA study | Q9UI47 |  | 607667 | cell adhesion | RP11-433J16.1, [NAME], [NAME], VR22 | 19404256 | 19404256 | 0 | 15039120, 15075440 | 19187332,   17761686
CTTNBP2 | 83992 | cortactin binding protein 2 | 7q31 | No Association | 1 | 0 | 1 | Positional candidate | O43389 |  | 609772 | A similar gene in rat interacts with a central regulator of the actin cytoskelet on. | Orf4, C7orf8, CORTBP2, FLJ34229, KIAA1758, [NAME] | 0 | 11707066 | 11707066 | 15364959
CXCR3 | 2833 | chemokine (C-X-C motif) receptor 3 | Xq13 | Rare single gene mutation | 1 | 0 | 0 | Missense mutations identified in ASD individulas. | P49682 |  |  | A G protein-coupled receptor with selectivity for the chemokines IP10, Mig and I-TAC. | GPR9; MigR; CD182; CD183; Mig-R; CKR-L2; CMKAR3; IP10-R; CXCR3 | 0 | 20479760 | 0 | 9466968, 12782716, 15456824 | 19919575, 19115931
CYP11B1 | 1584 | cytochrome P450, family 11, subfamily B, polypeptide 1 | 8q21 | Candidate gene assocaition | 1 | 1 | 0 | Nominal significance at P < 0.05 with both autistic traits and AS case-control studies | P15538 |  |  | This gene encodes a member of the cytochrome P450 superfamily of enzymes participating in the conversion of progesterone to cortisol in the adrenal cortex. | FHI; CPN1; CYP11B; [NAME]; FLJ36771; DKFZp686B05283 | 19598235 | 19598235 | 0 | 8506298, 10828825 | 19029289
DAB1 | 1600 | disabled homolog 1 (Drosophila) | 1p32-p31 | Functional | 1 | 0 | 0 | Significant reduction of Dab-1 mRNA  in superior frontal and cerebellar areas of autistic brains compared to control brains. | O75553 |  |  | DAB1 serves as an intracellular adaptor for reelin signaling pathway | disabled-1 | 0 | 15820235 | 0 | 9338785, 10571241 | 19796633, 19272360
DAPK1 | 1612 | death-associated protein kinase 1 | 9q34.1 | Functional | 1 | 0 | 0 | Differential expression in lymphoid cell lines from individuals with autism spec trum disorders. | P53355 |  |  | The encoded prtein binds ATP and it has calcium- and calmodulin-dependent protei n kinase activity. | DAPK, DKFZp781I035 | 0 | 16709250 | 0 | 10995806 | 16847012
DCUN1D1 | 54165 | DCN1, defective in cullin neddylation 1, domain containing 1 (S. cerevisiae) | 3q26.3 | Functional | 1 | 0 | 0 | Positional candidate | Q96GG9 |  | 605905 | The encoded protein plays a role in the neddylation pathway. | RP42, SCRO, Tes3, DCUN1L1 | 0 | 10777668 | 0 | 12796399 | 15988528
DCX | 1641 | doublecortex, lissencephaly, X-linked (doublecortin) | Xq22.3-q23 | No Association | 1 | 0 | 1 | Positional and functional candidate | O43602 |  | 300121 | The encoded protein binds to micrtubule and participates in neuronal migration. | DC, DBCN, LISX, SCLH, XLIS | 0 | 11857568 | 11857568 | 9817918 | 16835924, 16869982
DDX11 | 1663 | DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (CHL1-like helicase homolog, S. cerevisiae) | 12p11 | Functional | 1 | 0 | 0 | Differential expression in lymphoid cell lines from individuals with autism spec trum disorders. | Q96FC9 |  |  | The encoded protein has ATP-dependent DNA helicase activity. | CHL1, KRG2, [NAME], MGC9335, MGC133249 | 0 | 16709250 | 0 | 10882484 | 1662384
DHCR7 | 1717 | 7-dehydrocholesterol reductase | 11q13.2-q13.5 | Syndromic | 4 | 0 | 0 | Smith-Lemli-Opitz Syndrome | Q9UBM7 |  |  | Delta7-sterol reductase is the ultimate enzyme of cholesterol biosynthesis in ve rtebrates | SLOS; delta-7-dehydrocholesterol reductase, [NAME]-sterol reductase | 0 | 16761297 | 0 | 9653161, 9465114 | 16687448, 17197219
DIAPH3 | 81624 | DIAPH3 diaphanous homolog 3 (Drosophila) | 13q21.2 | Rare single gene mutation | 1 | 0 | 0 | Compound heterozygocity with paternally inherited nonsynonymous substitution Pro614Thr in DIAPH3 and maternally inherited 10 Mb deletion at 13q21.2 | Q9NSV4 |  |  | Actin-nucelating protein involved in the process of neurite outgrowth | DRF3; diap3; mDia2 | 0 | 20308993 | 0 | 15668168, 16439214 | 19457867, 19380880, 18516090, 18044991
DISC1 | 27185 | disrupted in schizophrenia 1 | 1q42.1 | Genetic Association | 1 | 1 | 0 | Association | Q9NRI5 |  |  |  | SCZD9, KIAA0457 | 17579608 | 17579608 | 0 | 12812986, 16293762 | 20139976, 20002455, 19778507,19191256, 19188535, 19077115, 18317464, 18762802, 17481393, 17825401
DLGAP2 | 9228 | discs, large (Drosophila) homolog-associated protein 2 | 8p23 | Rare single gene mutation | 1 | 0 | 0 | CNV | [NAME] |  |  | The encoded protein is a membrane-associated guanylate kinases localized at post synaptic density in neuronal cells | DAP2; SAPAP2 | 0 | 18252227 | 0 | 15207911 | 18055845
DLX1 | 1745 | distal-less homeobox 1 | 2q32 | Association | 1 | 1 | 0 | Genetic Association | P56177 |  |  | The encoded protein is a homeobox transcription factor. |  | 18728693 | 18728693 | 0 | 9247261, 9334308, 12050665 | 19026749, 19386638, 17678855, 16007083
[NAME] | 1746 | distal-less homeobox 2 | 2q32 | Association | 1 | 1 | 0 | Genetic Association | Q07687 |  |  | The encoded protein is a homeobox transcription factor. | DLX-2, TES1, [NAME] | 18728693 | 18728693 | 0 | 7590232, 9247261, 9334308, 12050665 | 19026749, 19386638, 19212323, 18706405, 18697905,18562615, 17678855
DMD | 1756 | dystrophin (muscular dystrophy, [NAME] and [NAME] types) | Xp21.2 | Syndromic autism | 6 | 1 | 0 | [NAME] muscular dystrophy | P11532 |  |  | The dystrophin gene is highly complex, containing at least eight independent, tissue-specific promoters and two polyA-addition sites. | BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS2 72 | 19404256 | 16417872 | 0 | 3282674, 3319190, 8349731 | 19818935, 18056690, 18354150, 17108972, 17450125
DMPK | 1760 | [NAME] kinase | 19q13.3 | Syndromic | 1 | 0 | 0 | Syndromic | Q09013 |  |  | Serine/threonine kinase | DM; DM1; DMK; MDPK; DM1PK; MT-PK | 0 | 18228241 | 0 | 14657503, 10976074, 9563950 | 18272483
DPP10 | 57628 | Dipeptidyl-peptidase 10 | 2q14.1 | Rare single gene mutation | 1 | 0 | 0 | rAut | Q8N608.1 |  |  | Binds specific voltage-gated potassium channels and alters their expression and biophysical properties | [NAME]; DPPY; DPRP3 | 0 | 18252227 | 0 | 15454437 | 18845608, 18276729, 16738002
DPP6 | 1804 | dipeptidyl-peptidase 6 | 7q36.2 | Rare single gene mutation | 1 | 0 | 0 | Single gene CNV | P42658.1 |  |  | modulate the kinetics of transient A-type currents | DPPX; MGC46605 | 0 | 18252227 | 0 | 9811881 | 19372736, 18978958, 18667548, 18536731,18364354, 18276729, 16899223, 18084291
DPYD | 1806 | dihydropyrimidine dehydrogenase | 1p22 | Rare single gene mutation | 1 | 0 | 0 | CNV |  |  | 274270 | The encoded protein is a pyrimidine catabolic enzyme and participates in the ini tial and rate-limiting factor in the pathway of uracil and thymidine catabolism. | DHP; DPD; MGC70799; MGC132008 | 0 | 18252227 | 0 | 3335642 | 17065071
DRD3 | 1814 | dopamine receptor D3 | 3q13.3 | Genetic Association | 1 | 1 | 0 | Significant association of SNP rs167771 located in the DRD3 gene | P35462 |  |  | This gene encodes the D3 subtype of dopamine receptor | D3DR; ETM1; FET1; MGC149204; MGC149205; DRD3 | 19058789 | 19058789 | 0 | 9354330, 11333982, 1362221 | 19017537, 17332411
EGR2 | 1959 | early growth response 2 (Krox-20 homolog, Drosophila) | 10q21.1 | Functional | 2 | 0 | 0 | Differential expression in lymphoid cell lines from individuals with autism spec trum disorders. | P11161 |  |  | The encoded protein is a Zn binding transcription factor. | CMT1D, CMT4E, KROX20, FLJ14547, DKFZp686J1957 | 0 | 16709250 | 0 | 8224839 | 19000991, 16702976
[NAME] | 1977 | eukaryotic translation initiation factor 4E | 4q21-q25 | Rare single gene mutation | 1 | 0 | 0 | In two unrelated families, autistic siblings and one of the parents harboured the same single nucleotide insertion at position -25 in the basal element of the EIF4E promoter. | P06730 |  |  | Translation initiation factor involved in directing ribosomes to the cap structure of mRNAs | CBP; EIF4F; EIF4E1; EIF4EL1; [NAME]; [NAME] | 0 | 19556253 | 0 | 7935836, 9561852,  9603962, 15541314, 11778052 | 18832563, 17277769
EN2 | 2020 | engrailed homolog 2 | 7q36 | Association/No Association | 6 | 5 | 1 | Replication of association | P19622 | 122089 | 131310 | The encoded protein is a transcription factor. | AUTS1, engrailed 2, engrailed-2 | 18424904, 17948901, 17948868, 16252243, 15024396 | 15024396 | 12525552 | 7909289, 2907320 | 18562208,17320162, 16935268, 16267555
ESR1 | 2099 | estrogen receptor 1 | 6q25.1 | Candidate gene assocaition | 1 | 1 | 0 | Nominal significance at P < 0.05 with both autistic traits and AS case-control studies | P03372 |  |  | Estrogen and its receptors are essential for sexual development and reproductive function, but also play a role in other tissues. | ER; ESR; Era; ESRA; NR3A1 | 19598235 | 19598235 | 0 | 10600740 | 19710308, 19707539, 19539635,18187655, 17046690
ESR2 | 2100 | estrogen receptor 2 (ER beta) | 14q23.2 | Candidate gene assocaition | 1 | 1 | 0 | Nominal significance at P < 0.05 with both autistic traits and AS case-control studies | Q92731 |  |  | This gene encodes a member of the family of estrogen receptors | Erb; ESRB; ESTRB; NR3A2; ER-BETA; ESR-BETA | 19598235 | 19598235 | 0 | 12774124, 11799247,  10600740 | 19559077, 18187655
ESRRB | 2103 | estrogen-related receptor beta | Chromosome 14: 75,907,479-76,036,961 | Genetic Association | 1 | 1 | 0 | Suggestive association signals (P < 1 X 10 -5) in the two discovery cohorts in GWA study | O95718 |  | 602167 | steroid hormone receptor, transcription factor | DFNB35, ERR2, ERRb, ERRbeta, ERRbeta-2, ESRL2, NR3B2 | 19404256 | 19404256 | 0 | 9344655 | 18957414, 18555785, 18179891
F13A1 | 2162 | coagulation factor [NAME], [NAME] polypeptide | 6p25.3-p24.3 | Functional | 1 | 0 | 0 | Differential expression in lymphoid cell lines from individuals with autism spec trum disorders. | P00488 |  |  | The encoded protein has protein-glutamine gamma-glutamyltransferase activity. I t participates in blood coagulation cascade. | F13A | 0 | 16709250 | 0 | 8922891 | 1652556
FABP5 | 2171 | fatty acid binding protein 5 (psoriasis-associated) | 8q21.13 | Rare single gene mutation / Genetic association | 1 | 0 | 0 | A mutation involving 340G>C (Gly114Arg) identified in FABP5 | Q01469 |  |  | The encoded protein binds long-chain fatty acids and other hydrophobic ligands | EFABP; E-FABP; PAFABP; PA-FABP; FABP5 | 0 | 20057506 | 0 | 10856918, 1512466 | 20014382, 19307565
FABP7 | 2173 | fatty acid binding protein 7, brain | 6q22-q23 | Rare single gene mutation / Genetic association | 1 | 0 | 0 | A missense mutation, 376G>C (Val126Leu), identified in FABP7 | O15540 |  |  | The encoded protein binds long-chain fatty acids and other hydrophobic ligands | MRG; BLBP; FABPB; B-FABP | 0 | 20057506 | 0 | 8161459, 11133151 | 19554614, 19540848, 19307565
FBXO33 | 254170 | F-box protein 33 | Chromosome 14: 38,936,718-38,971,371 | Genetic Association | 1 | 1 | 0 | Suggestive association signals (P < 1 X 10 -5) in the two discovery cohorts in GWA study | [NAME] |  | 609103 |  | BMND12, Fbx33, c14_5247 | 19404256 | 19404256 | 0 | 0 | 0
FBXO40 | 51725 | F-box protein 40 | Chromosome 3: 122,794,656-122,831,829 | [NAME] | 1 | 0 | 0 | CNV from GWA study | Q9UH90 |  | 609107 | Ubiquitin-protein ligase | FBX40, KIAA1195, MGC129902, MGC129903 | 0 | 19404257 | 0 | 0 | 17928169
FEZF2 | 55079 | FEZ family zinc finger 2 | Chromosome 3: 62,330,387-62,334,230 | Genetic Association | 1 | 1 | 0 | Suggestive association signals (P < 1 X 10 -5) in the two discovery cohorts in GWA study | Q8TBJ5 |  | 607414 | Regulation of transcription | FEZ, FEZL, FKSG36, [NAME], TOF, ZFP312, ZNF312 | 19404256 | 19404256 | 0 | 12469125,  16157277 | 18678899, 18840685
FHIT | 2272 | fragile histidine triad gene | 3p14.2 | Rare single gene mutation | 1 | 0 | 0 | Single-gene CNV | P49789 |  |  | encodes a diadenosine 5',5'''-P1,P3-triphosphate hydrolase involved in purine me tabolism. | FRA3B, AP3Aase | 0 | 17363630 | 0 | 8598045, 8794732 | 17142325, 16187332
FLT1 | 2321 | fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular perme ability factor receptor) | 13q12 | Functional | 1 | 0 | 0 | Differential expression in lymphoid cell lines from individuals with autism spec trum disorders. | P17948 |  |  | The encoded protein is a receptor for vascular endothelial growth factor. | FLT, VEGFR1 | 0 | 16709250 | 0 | 10803575 | 16432214
FMR1 | 2332 | fragile X mental retardation 1 | Xq27.3 | Syndromic autism | > 10 | 1 | 2 | Autism in some individuals with fragile X syndrome. | Q06787 | 123464 | 309550 | The encoded protein has RNA binding ability. | FMRP, [NAME], MGC87458 | 9118347 | 9813775 | 14755444, 9358013 | 7688265 | 20799337, 20417602, 20439717, 20434996, 20159451, 20071534, 19166269, 18787232, 18760699, 16700053, 16780889, 16707258
FOXP2 | 93986 | forkhead box [NAME] | 7q31 | Genetic Association | 6 | 2 | 4 | Mixed | O15409 | 123519 | 605317 | The encoded protein is a Zn binding transcription factor. | SPCH1, CAGH44, TNRC10, DKFZp686H1726 | 15108192, 15737702 | 15108192 | 15998549, 12655497, 12116195, 11894222 | 12192408 | 19907493, 19490899, 18972576, 18461604, 18328704, 18987363, 18052609,15877281
FRK | 2444 | fyn-related kinase | Chromosome 6: 116,369,389-116,488,614 | Genetic Association | 1 | 1 | 0 | Suggestive association signals (P < 1 X 10 -5) in the two discovery cohorts in GWA study | P42685 |  | 606573 | [NAME] | GTK, PTK5, RAK | 19404256 | 19404256 | 0 | 10878015 | 19345329
FRMPD4 | 9758 | FERM and PDZ domain containing 4 | Xp22.2 | Rare single gene mutation | 1 | 0 | 0 | Missense variants identified  in ASD patients | Q14CM0 |  |  | A multi-domain (WW, PDZ, FERM) containing protein that functions as a positive regulator of dendritic spine morphogenesis and density. | PDZD10; [NAME]; KIAA0316; MGC142260; MGC142262; FRMPD4, [NAME] | 0 | 20479760 | 0 |  | 19118189
GABRA4 | 2557 | gamma-aminobutyric acid (GABA) A receptor, alpha 4 | 4p12 | Association | 2 | 2 | 0 | Strong | P48169 | 123677 | 137141 | The encoded protein is a subunit of GABA-A receptor. Neurotransmission is predo minantly mediated by a gated chloride channel activity intrinsic to the receptor . | NA | 16080114, 16770606 | 16080114 | 0 | 9582073 | 16091474
GABRB1 | 2560 | gamma-aminobutyric acid (GABA) A receptor, beta | 4p12 | Association | 2 | 2 | 0 | Strong | P18505 |  |  | The encoded protein is a subunit of GABA-A receptor. Neurotransmission is predo minantly mediated by a gated chloride channel activity intrinsic to the receptor . | NA | 16080114, 16770606 | 16080114 | 0 | 2479580 | 16770606
GABRB3 | 2562 | gamma-aminobutyric acid (GABA) A receptor, beta 3 | 15q11.2-q12 | Association/No Association | 10 | 8 | 2 | Strong positional and functional candidate | P28472 | 147894 | 137192 | The encoded protein is a subunit of GABA-A receptor. Neurotransmission is predo minantly mediated by a gated chloride channel activity intrinsic to the receptor . | MGC9051 | 19935738, 9545402, 11920158, 12092907, 12819446, 15389768, 15952184, 16674551 | 9545402 | 10490705, 10490715, | 8557845 | 16835263
GALNT13 | 114805 | UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) | 2q23.3-q24.1 | Rare single gene mutation | 1 | 1 | 0 | Rare variants in exonic deletion loci  identified in both discovery and replication cohorts, but none of 2539 controls | Q8IUC8 |  |  | A member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase family, which initiate O-linked glycosylation of mucins by the initial transfer of N-acetylgalactosamine (GalNAc) with an alpha-linkage to a serine or threonine residue. | GalNAc-T13; GalNAcT; GalNAc TRANSFERASE 13; pp-GalNAc-T13 | 19557195 | 19557195 | 0 | 12407114 | 18269347
GLO1 | 2739 | glyoxalase I | 6p21.3-p21.1 | Association | 3 | 1 | 2 | Strong | Q04760 |  | 138750 | The encoded protein mediates catalysis and formation of S-lactoyl-glutathione fr om methylglyoxal and reduced glutatione. | GLYI | 15386471 | 15386471 | 17722011, 17346350 | 10807791 | 16244648, 16352396
[NAME] | 2742 | glycine receptor, alpha 2 | Xp22.1-p21.3 | Rare single gene mutation | 1 | 0 | 0 | Missense variants identified  in ASD patients | P23416 |  |  | A ligand-gated channel mediating a chloride-dependent inhibitory neurotransmission |  | 0 | 20479760 | 0 | 9030628,  1703526 | 20106969, 19995593, 19924257
GNAS | 2778 | GNAS complex locus | 20q13.3 | No Association | 1 | 0 | 1 | Functional candidate | O60726 |  |  | The encoded protein has GTPase activity. | NESP55 (OLD symbol), XL, AHO, GSA, GSP, POH, XL2, GPSA, NESP, SCG6, GNAS1, PHP1A , PHP1B, [NAME], NESP55, C20orf45, MGC33735, [NAME], dJ309F20.1.1, dJ806M20.3. 3 | 0 | 10860717 | 10860717 | 10716699 | 16831926
GPX1 | 2876 | glutathione peroxidase 1 | 3p21.3 | Genetic Association | 1 | 1 | 0 | Significant transmission disequilibrium (p=0.044) was found in the overall trans mission of the polyalanine repeat (ALA5, [NAME] and ALA7) in 103 trios of AD | P07203 |  |  | It functions in the detoxification of hydrogen peroxide | GSHPX1; MGC14399; [NAME]; GPX1 | 19195803 | 19195803 | 0 | 9712879, 11545230 | 18853169, 18602426
GRIK2 | 2898 | glutamate receptor, ionotropic, kainate 2 | 6q16.3-q21 | Association/ No Association | 3 | 2 | 1 | Strong | Q13002 | 124223 |  | The encoded protein is a subunit of kainate glutamate receptors. | EAA4, GLR6, GLUR6, MGC74427 | 11920157, 15389769, | 11920157 | 17712621 | 9580260, 9108071 | 16855092, 16498632
GRIN2A | 2903 | glutamate receptor, ionotropic, N-methyl D-aspartate 2A | 16p13.2 | Association | 1 | 1 | 0 | Strong | Q12879 |  |  | The encoded protein is a subunit of N-methyl-D-aspartate (NMDA) selective glutam ate receptors. | NR2A, NMDAR2A | 15830322 | 15830322 | 0 | 2904125, 7512349 | 16862427, 16822975, 16814755, 16630839
GRM8 | 2918 | glutamate receptor, metabotropic 8 | 7q31.3-q32. | Association/No Association | 2 | 1 | 1 | Genetic association | O00222 | 124298 |  | The encoded protein has glutamate, GABA-B-like receptor activity. | GLUR8, mGlu8, GPRC1H, MGLUR8, FLJ41058, MGC126724 | 12676915 | 12676915 | 17955477 | 9016353 | 16280590
GRPR | 2925 | Gastrin-releasing peptide receptor | Xp22.2-p22.13 | Rare single gene mutation | 2 | 0 | 2 | Cytogenetic evidence | P30550 |  | 305670 | The encoded protein has G-protein coupled receptor activity. | NA | 0 | 9259269 | 14729406, 9674911 | 1671171 | 16735043, 15670577
GSTM1 | 2944 | glutathione S-transferase M1 | 1p13.3 | Association | 1 | 1 | 0 | Association | P09488 |  |  | The encoded protein has glutathione transferase activity. | MU, H-B, GST1, GTH4, GTM1, MU-1, GSTM1-1, [NAME], GSTM1a-1a, GSTM1b-1b | 16472391 | 16472391 | 0 | 9298582 | 16829689
HLA-A | 3105 | major histocompatibility complex, class I, A | 6p21.3 | Association | 2 | 2 | 0 | Association | P30443 |  |  | The encoded protein belongs to the MHC class I receptor and plays a central role in the immune response. | HLA A | 16720216, 14568232 | 16720216 | 0 | 3309677 | 16860448
HLA-DRB1 | 3123 | major histocompatibility complex, class II, DR beta 1 | 6p21.3 | Association | 1 | 1 | 0 | Strong Association | O00430 | 142490 |  | The encoded protein belongs to the MHC class II receptor and plays a central rol e in the immune response. | DRB1, HLA DRB1, HLA-DR1B | 8765331 | 8765331 | 0 | 1416553 | 16826237
HNRNPH2 | 3188 | heterogeneous nuclear ribonucleoprotein H2 (H') | Xq22 | Rare single gene mutation | 1 | 0 | 0 | Missense variants identified  in ASD patients | U01923 |  |  | Involved in pre-mRNA processing and other aspects of mRNA metabolism and transport. | FTP3; HNRPH'; HNRPH2; hnRNPH' | 0 | 20479760 | 0 | 7499401 | 19734144
HOXA1 | 3198 | homeobox A1 | 7p15.3 | Association/No Association | 8 | 2 | 6 | Contradictory results | P49639 | 11125 | 142955 | The encoded protein is a transcription factor that plays a major role in brainst em and cranial morphogenesis. | BSAS, HOX1, [NAME], [NAME] | 14960295, 11091361 | 11091361 | 14681917, 12908836, 12888798, 12414832, 11840501, 12210285 | 9463349 | 16549775, 16168961, 16155570
HOXB1 | 3211 | homeobox B1 | 17q21.3 | No Association | 5 | 0 | 5 | Functional candidate | P14653 | 126361 |  | The encoded protein is a transcription factor. | HOX2, HOX2I, Hox-2.9, [NAME], MGC116844, MGC116845 | 0 | 14681917 | 11091361, 14681917, 12888798, 12414832, 11840501, | 9463349 | 16675951
HRAS | 3265 | [NAME] rat sarcoma viral oncogene homolog | 11p15.5 | Association | 3 | 3 | 0 | Interesting functional candidate | P01112 | 142619 |  | The encoded protein binds GTP and has GTPase activity. | HRAS1, K-ras, N-ras, RASH1, c-bas/has | 8832771, 7485261, 8098541 | 8098541 | 0 | 11017143 | 16568090, 16835863
HS3ST5 | 222537 | heparan sulfate (glucosamine) 3-O-sulfotransferase 5 | Chromosome 6: 114,485,071-114,490,735 | Genetic Association | 1 | 1 | 0 | Suggestive association signals (P < 1 X 10 -5) in the two discovery cohorts in GWA study | Q8IZT8 |  | 609407 | sulfotransferases | 3-OST-5, 3OST5, HS3OST5, NBLA04021 | 19404256 | 19404256 | 0 | 12740361 | 17482450, 17588944
HSD11B1 | 3290 | hydroxysteroid (11-beta) dehydrogenase 1 | 1q32-q41 | candidate gene assocaition | 1 | 1 | 0 | Nominal significance at P < 0.05 with AS case-control studies | P28845 |  |  | The encoded protein is a microsomal enzyme that catalyzes the conversion of the stress hormone cortisol to the inactive metabolite cortisone. It can also catalyze the reverse reaction, the conversion of cortisone to cortisol. | HDL; 11-DH; HSD11; HSD11B; [NAME]; SDR26C1; MGC13539; 11-beta-HSD1; HSD11B1 | 19598235 | 19598235 | 0 | 7670488, 11739957, 12858176 | 19690925, 19651257, 19546565, 15717863
HTR1B | 3351 | 5-hydroxytryptamine (serotonin) receptor 1B | 6q13 | Genetic Association | 1 | 1 |  | Undertransmission of the HTR1B haplotypes containing alleles -161G and -261A at HTR1B gene to ASD in Brazilian male patients of European ancestry. | P28222 |  |  | The encoded protein belongs to G-protein coupled receptor 1 family. | S12; 5-HT1B; HTR1D2; HTR1DB; 5-HT1DB; HTR1B | 19038234 | 19038234 |  | 8091214, 9603521 | 19055689, 16400147
HTR2A | 3356 | 5-hydroxytryptamine (serotonin) receptor 2A | 13q14-q21 | No Association | 1 | 0 | 1 | Functional candidate | P28223 |  |  | The encoded protein is a seretonin receptor. | HTR2, 5-HT2A | 0 | 11920848 | 11920848 | 7630250 | 16648340
HTR3A | 3359 | 5-hydroxytryptamine (serotonin) receptor 3A | 11q23.1 | Genetic association | 1 | 1 | 0 | Most significant association was found at rs1150220 (HTR3A) | P46098 |  |  | ligand-gated ion channel receptor | HTR3; 5HT3R; 5-HT-3; 5-HT3A; 5-HT3R; HTR3A | 19184136 | 19184136 | 0 | 12867984, 1718042 | 19232378, 19095802, 18622264
HTR3C | 170572 | 5-hydroxytryptamine (serotonin) receptor 3, family member C | 3q27.1 | Genetic Association | 1 | 1 | 0 | family-based association analysis | Q8WXA8 |  |  | Ligand-gated ion channel receptor |  | 19035560 | 19035560 | 0 | 12801637 | 18466097, 18761359
HTR7 | 3363 | 5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled) | 10q21-q24 | No Association | 1 | 0 | 1 | Functional candidate | P34969 |  | 182137 | The encoded protein is a seretonin receptor. |  | 0 | 10490701 | 10490701 | 9892311 | 16192982
IL1RAPL1 | 11141 | interleukin 1 receptor accessory protein-like 1 | Xp22.1-p21.3 | Rare single gene mutation | 1 | 0 | 0 | Rare single gene mutation | Q9NZN1 |  |  | may regulate calcium-dependent exocytosis | IL1R8; MRX21; MRX34; OPHN4; IL1RAPL; TIGIRR-2 | 0 | 18005360 | 0 | 12783849 | 20096586, 18801879, 18467032, 17502602
IMMP2L | 83943 | IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae) | 7q31 | Rare single gene mutation / Genetic association | 1 | 0 | 0 | Cytogenetic evidence | Q96HJ2 |  |  | The encoded protein has serine-like peptidase activity. | IMP2 | 0 | 11254443 | 0 | 11254443 | 16239145
INPP1 | 3628 | inositol polyphosphate-1-phosphatase | 2q32 | Association | 1 | 1 | 0 | Nominal association | P49441 |  |  | The encoded protein belongs to the phosphatidylinositol signaling pathways. |  | 14627686 | 14627686 | 0 | 9682271 | 16787706
ITGA4 | 3676 | integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) | 2q31.3 | Association | 3 | 3 | 0 | Replication of association | P13612 |  |  | Cell adhesion molecules | IA4; CD49D; MGC90518; ITGA4 | 18348195, 18846500, 19259978 | 18348195 | 0 |  | 17689671, 18697840
ITGB3 | 3690 | integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) | 17q21.32 | Association | 1 | 1 | 0 | Strong | P05106 | 150377 |  | The encoded protein is the integrin beta chain beta 3 that participates in cell adhesions and cell-surface mediated signalling. | CD61, GP3A,GPIIIa | 16724005 | 16724005 | 0 | 10195947 | 16721604
ITGB7 | 3695 | integrin, beta 7 | 12q13.13 | Functional | 1 | 0 | 0 | Differential expression in lymphoid cell lines from individuals with autism spec trum disorders. | P26010 |  |  | The encoded protein is a receptor for fibronectin. | NA | 0 | 16709250 | 0 | 7687523 | 15699171
JMJD1C | 221037 | [NAME] 1C | 10q21.2 | Rare single gene mutation | 1 | 0 | 0 | Cytogenetic | Q15652 |  |  | histone demethylase, tumor suppressor | TRIP8, FLJ14374, KIAA1380, RP11-10C13.2, DKFZp761F0118 | 0 | 17290275 | 0 | 14533015 | 17353003
KCNMA1 | 3778 | potassium large conductance calcium-activated channel, subfamily M, alpha member 1 | 10q22.3 | Rare single gene mutation | 1 | 0 | 0 | Cytogenetic evidence | Q12791 |  |  | The encoded protein is the pore forming alpha subunit of large conductance, volt age and calcium-sensitive potassium channels. These channels are fundamental to the control of smooth muscle tone and neuronal excitability. | SLO; BKTM; MaxiK; SAKCA; KCa1.1; MGC71881; SLO-ALPHA; DKFZp686K1437 | 0 | 16946189 | 0 | 9284303, 11090555 | 18345016, 18316727, 18250327, 17635926, 17209047, 16738211, 17040919, 17068255
[NAME] | 57691 | [NAME] | 6p12.1 | Rare single gene mutation | 1 | 1 | 0 | Rare variants in exonic deletion loci  identified in both discovery and replication cohorts, but none of 2539 controls | Q8N303 |  |  | Unknown | FLJ30162 | 19557195 | 19557195 | 0
LAMB1 | 3912 | laminin, beta 1 | 7q22 | Association | 1 | 1 | 0 | Suggestive association | P07942 |  |  | The encoded protein belongs to the family of extracellular matrix glycoproteins. It is a subunit of laminin 1, laminin 2 and laminin 6. | CLM | 15128462 | 15128462 | 0
LRFN5 | 145581 | leucine rich repeat and fibronectin type III domain containing 5 | Chromosome 14: 41,146,523-41,443,498 | Genetic Association | 1 | 1 | 0 | Suggestive association signals (P < 1 X 10 -5) in the two discovery cohorts in GWA study | Q96NI6 |  |  |  | C14orf146, DKFZp686G0210, FIGLER8, FLJ30803, SALM5 | 19404256 | 19404256 | 0 | 0 | 0
LRRC1 | 55227 | leucine rich repeat containing 1 | Chromosome 6: 53,767,737-53,896,878 | Genetic Association | 1 | 1 | 0 | Suggestive association signals (P < 1 X 10 -5) in the two discovery cohorts in GWA study | Q9BTT6 |  | 608195 | cell adhesion | LANO; FLJ10775; FLJ11834; dJ523E19.1; LRRC1 | 19404256 | 19404256 | 0 | 11440998 | 18498353
LZTS2 | 84445 | [NAME], putative tumor suppressor 2 | Chromosome 10: 102,746,955-102,757,583 | Genetic Association | 1 | 1 | 0 | Suggestive association signals (P < 1 X 10 -5) in the two discovery cohorts in GWA study | Q9BRK4 |  | 610454 | tumor suppressor | RP11-108L7.8, KIAA1813, LAPSER1 | 19404256 | 19404256 | 0 | 17000760 | 18490357
MACROD2 | 140733 | MACRO domain containing 2 | 20p12.1 | Genetic Association | 1 | 1 | 0 | The marker rs4141463, located within [NAME], crossed the genome-wide association significance threshold of P < 5 x 10(-8) |  |  |  |  | C20orf133 | 20663923 | 20663923 | 0 | 17586838 | 20195527, 18593871
MAOA | 4128 | monoamine oxidase A | Xp11.3 | Functional | 1 | 0 | 0 | Interesting functional candidate | P21397 |  | 309850 | The encoded protein degrades amine neurotransmitters. | NA | 0 | 12919132 | 0 | 7792602 | 16856146, 16801953
MAP2 | 4133 | microtubule-associated protein 2 | 2q34-q35 | Functional | 1 | 0 | 0 | Reduce neuronal expression of MAP2 in dorsolateral prefrontal cortex in adult au tistic individuals | P11137 |  | 157130 | The encoded protein is a member of microtubule-associated protein family. | [NAME], [NAME], MAP2C, DKFZp686I2148 | 0 | 15541002 | 0 | 1465130 | 18572149, 17984326
MARK1 | 4139 | MAP/microtubule affinity-regulating kinase 1 | 1q41 | Genetic association | 1 | 1 | 0 | Haplotype rs12740310*C-rs3737296*G-rs12410279*A was overtransmitted (P(corrected)= 0.0016), with a relative risk for autism of 1.8 in homozygous carriers. | Q9P0L2 |  |  | The encoded protein is Ser/Thr kinase that phosphorylates the microtubule-associated proteins tau, MAP2, and [NAME] on their microtubule-binding domain, causing their dissociation from microtubules and increased microtubule dynamics. | MARK; KIAA1477; MGC126512; MGC126513; MARK1 | 18492799 | 18492799 | 0 | 7706316, 9108484, | 19536824, 17507984, 17924967, 16803889
MBD1 | 4152 | methyl-CpG binding domain protein 1 | 18q21 | Rare single gene mutation | 1 | 0 | 0 | Missense mutations in the coding region of MBD1 | Q9UIS9 |  |  | The encoded protein binds specifically to methylated DNA and can repress transcription | RFT; PCM1; CXXC3 | 0 | 19921286 | 0 | 2004419, 11371345 | 18385101
MBD3 | 53615 | ethyl-CpG binding domain protein 3 | 19p13.3 | Rare single gene mutation | 1 | 0 | 0 | Several variations including a missense mutation, R23M, within the methyl- CpG-binding domain identified in two affected half brothers in an African-American family. | O95983 |  |  | The encoded protein is is a subunit of the NuRD, a multisubunit complex containing nucleosome remodeling and histone deacetylase activities | MBD3 | 0 | 19921286 | 0 | 11274056, 10947852 | 19888462
[NAME] | 8930 | methyl-CpG binding domain protein 4 | 3q21-q22 | Rare single gene mutation | 1 | 0 | 0 | Multiple missense mutations | O95243 |  |  | The encoded protein forms a complex with MLH1, binds to methyl-CpG-containing DNA, has homology to bacterial DNA repair glycosylases/lyases, and displays endonuclease activity. | MED1 | 0 | 19921286 | 0 | 10499592, 12130785 | 19829383, 19109892
[NAME] | 79648 | [NAME] 1 | 8p23.1 | Rare single gene mutation | 1 | 0 | 0 | Recurrent copy number variations | Q8NEM0 |  |  |  | MCT; BRIT1; FLJ12847 | 0 | 19793310 | 0 | 12046007, 16151009 | 19925808, 19546241, 18716609
MDGA2 | 161357 | MAM domain containing glycosylphosphatidylinositol anchor 2 | 14q21.3 | Rare single gene mutation | 1 | 1 | 0 | Rare variants in exonic deletion loci  identified in both discovery and replication cohorts, but none of 2539 controls | Q7Z553 |  |  | The encoded protein is a member of the  immunoglobulin domain cell adhesion molecule subfamily and and is proposed to be involved in regulating neuronal migration and axonal guidance | MAMDC1; c14_5286 | 19557195 | 19557195 | 0 | 15019943 | 18762592
MECP2 | 4204 | [NAME] binding protein 2 | Xq28 | Syndromic autism | >10 | 1 | 1 | Seconday autism in a subset of individuals with Rett syndrome. | P51608 | 130376 | 300005 | The encoded protein has methylation-dependent transcriptional repressor activity . It is also involved in regulation of RNA splicing. | RTS, RTT, PPMX, MRX16, MRX79, AUTSX3, DKFZp686A24160 | 15211631 | 10508514 | 11464249 | 9620804, 9038338 | 21118894, 21085180, 21068835, 21118894, 19628041, 19000991, 18820302, 18817733, 18773074, 18678449, 17464364, 16682435, 16199017
MED12 | 9968 | mediator complex subunit 12 | Xq13 | No Association | 2 | 0 | 2 | Mixed | Q93074 | 130388 | 300188 | The encoded protein is believed to be a co-activator of the thyroid hormone rece ptor and involved in thyroid hormone signal transduction. | HOPA, OPA1, CAGH45, TNRC11, TRAP230, KIAA0192 | 0 | 11840515 | 11039861, 11840515 | 10480376 | 16712834, 16538184
MEF2C | 4208 | myocyte enhancer factor 2C | 5q14 | Rare single gene mutation | 1 | 0 | 0 | Missence mutations and small deletions identified in ASD | Q06413 |  |  | The encoded protein is a transcription factor involved in diverse developmental processes including hematopoiesis, cardiogenesis and neurogenesis. |  | 0 | 20412115 | 0 | 9162005, 9069290 | 20513142, 20434996, 19109909, 18278031, 18599437
MET | 4233 | met proto-oncogene (hepatocyte growth factor receptor) | 7q31 | Candidate Gene Association | 5 | 5 | 0 | Genetic association of a common C allele in the promoter region of MET | P08581 | 138055 | 164860 | The encoded protein is the hepatocyte growth factor receptor with tyrosine-kinas e activity. | HGFR; RCCP2, [NAME]; met proto-oncogene | 19681062, 19548256, 19255034, 19002214, 17053076 | 17053076 | 0 | 8898205, 8906793, 11114738, 11430831 | 20080979, 19732764, 19595710, 19226509, 18664491, 17696172, 17065554, 16201992
MTF1 | 4520 | metal-regulatory transcription factor 1 | 1p33 | Association | 1 | 1 | 0 | Interesting functional candidate | O14945 |  |  | The encoded protein is Zn binding transcription factor that mediates regulation of metallothionein genes. | MTF-1 | 15446388 | 15446388 | 0 | 11306562 | 16612977
MYO16 | 23026 | [NAME] | Chromosome 13: 108,046,501-108,658,356 | Genetic Association | 1 | 1 | 0 | Suggestive association signals (P < 1 X 10 -5) in the two discovery cohorts in GWA study | Q9Y6X6 |  |  | motor protein, actin binding | RP11-54H7.1, KIAA0865, [NAME], Myo16b | 19404256 | 19404256 | 0 | 11588169 | 17029291
NBEA | 26960 | neurobeachin | 13q13 | Rare single gene mutation | 1 | 0 | 0 | Cytogenetic evidence | Q5W0E6 |  | 604889 | The encoded protein has protein kinase A binding activity. | BCL8B, LYST2 | 0 | 12746398 | 0 | 11102458 | 17215302, 16244873
NDNL2 | 56160 | necdin-like 2 | 15q13.1 | Positional | 1 | 0 | 0 | Positional | Q96MG7 |  | 608243 | The encoded protein plays a role in regulation of cell growth. | HCA4, MAGEG1, MAGEL3 | 0 | 11782285 | 0 | 10347180 | 16707790
NF1 | 4763 | neurofibromin 1 (neurofibromatosis, [NAME] disease, [NAME] disease) | 17q11.2 | Syndromic autism | 3 | 1 | 2 | Seconday autism in a subset of individuals with Neurofibromatosis type I. | P21359 | 131566 |  | The encoded protein has [NAME] GTPase activity and appears to be a negative regulat or of cell proliferation. | Neurofibromin, WSS, NFNS, VRNF, DKFZp686J1293 | 15389774 | 15389774 | 11449390, 10581497 | 2121371, 11793011 | 20106617, 19475561, 18984165, 16644864
NLGN1 | 22871 | neuroligin 1 | Chromosome 3: 174,805,083-175,483,810 | [NAME] | 1 | 1 | 0 | CNV from GWA study | [NAME] |  | 600568 | Cell adhesion | KIAA1070, MGC45115 | 19404257 | 19404257 | 0 | 9278515, 8576240, 7736595 | 19323994, 18579781
NLGN3 | 54413 | neuroligin 3 | Xq13.1 | Rare single gene mutation | 6 | 1 | 4 | Mutations in ASD siblings | Q9NZ94 | 131609 | 300336 | Neuroligins are cell-adhesion molecules at the postsynaptic side of the synapse . | HNL3, ASPGX1, AUTSX1, KIAA1480 | 16077734 | 12669065 | 18189281, 15274046, 15389766, 16508939 | 12669065 | 17823315, 16434405, 16300891, 16298368
NLGN4X | 57502 | neuroligin 4, X-linked | Xp22.32-p22.31 | Single gene mutation | 8 | 3 | 3 | Strong | Q8N0W4 | 131611 | 300427 | Neuroligins are cell-adhesion molecules at the postsynaptic side of the synapse . | HLNX, HNLX, NLGN, NLGN4, ASPGX2, AUTSX2, KIAA1260, MGC22376 | 19726642, 16077734, 19598235, 19645625 | 12669065 | 15274046, 15389766, 16508939 | 12669065 | 18434543, 18231125, 18227507, 16624946
NLGN4Y | 22829 | neuroligin 4, Y-linked | Yq11.221 | No Association | 1 | 0 | 1 | No evidence | Q8NFZ3 |  | 400028 | Neuroligins are cell-adhesion molecules at the postsynaptic side of the synapse . | KIAA0951 | 0 | 16077734 | 16077734 | 12815422
NOS1AP | 9722 | nitric oxide synthase 1 (neuronal) adaptor protein | 1q23.3 | Rare single gene mutation | 1 | 0 | 0 | A non-synonymous variation, D423N,  segregated with the presence of ASD | O75052 |  |  | An adaptor protein serving as regulator of neuronal nitric oxide synthase | [NAME] | 0 | 20602773 | 0 | 16648850, 11086993, 9459447 | 20357130, 18337493
NOS2A | 4843 | nitric oxide synthase 2A (inducible, hepatocytes) | 17q11.2-q12 | Genetic Association | 1 | 1 | 0 | Transmission disequilibrium test (TDT) and haplotype analysis in 151 Korean ASD trios. | P35228 |  |  | This gene encodes a nitric oxide synthase which is inducible by a combination o f lipopolysaccharide and certain cytokines. | NOS; INOS; NOS2; HEP-NOS | 18563708 | 18563708 | 0 | 6373578, 8577713 | 18650379, 18639532
NPAS2 | 4862 | neuronal PAS domain protein 2 | 2q11.2 | Association | 1 | 1 | 0 | Genetic association | Q99743 | 152091 |  | The protein encoded by this gene is a member of the basic helix-loop-helix ([NAME] )-PAS family of transcription factors. |  | 17264841 | 17264841 | 0 | 11439184 | 17457720, 17417633
NRCAM | 4897 | neuronal cell adhesion molecule | 7q31.1-q31.2 | Association | 2 | 1 | 1 | A case-control study of 18 single nucleotide polymorphisms | Q6QRP2 | 152204 |  | The encoded protein is a cell-cell adhesion molecule that participates in neuro nal outgrowth and guidance processes. | KIAA0343, NgCAM-related cell adhesion molecule, NrCAM protein, NrCAM-short, brav o | 18664314 | 18664314 | 15128462 | 8947556 | 16357171
NRP2 | 8828 | neuropilin 2 | 2q33.3 | Association | 1 | 1 | 0 | Genetic Association | O60462 |  |  | High affinity receptor for semaphorins 3C, 3F, VEGF-165 and VEGF-145 isoforms of VEGF, and the PLGF-2 isoform of PGF | NP2, NPN2, PRO2714, MGC126574, [NAME] | 17427189 | 17427189 | 0 | 9288754, 10707971 | 17259176, 17329436, 17443771
NRXN1 | 9378 | neurexin 1 | 2p16.3 | Rare single gene mutation | 1 | 1 | 0 | CNV; Single-gene mutation; association | P58400 |  | 600565 | Neuronal celll adhesion molecule |  | 17034946 | 17322880 | 0 | 9325340, 12796785 | 19822762, 19567877, 18945720, 18179900, 17360903, 17237775, 16846852
NTNG1 | 22854 | [NAME] | 1p13.3 | Syndromic autism | 1 | 0 | 0 | Rett syndrome | Q9Y2I2 |  |  | [NAME] (NTNG1) belongs to a conserved family of proteins that act as axon gui dance cues during vertebrate nervous system development | Lmnt1; KIAA0976 | 0 | 15870826 | 0 | 14595443 | 18384956, 17785411, 16980967, 17973922
NTRK1 | 4914 | neurotrophic tyrosine kinase, receptor, type 1 | 1q21-q22 | Candidate gene assocaition | 1 | 1 | 0 | Nominal significance at P < 0.05 with both autistic traits and AS case-control studies | P04629 |  |  | A membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway. | MTC; TRK; [NAME]; TRKA; p140-TrkA; DKFZp781I14186 | 19598235 | 19598235 | 0 | 8145823, 8878481, 10330344 | 19755105, 19755102, 18323418
NTRK3 | 4916 | neurotrophic tyrosine kinase, receptor, type 3 | 15q25 | Candidate gene assocaition | 1 | 1 | 0 | Nominal significance at P < 0.05 with both autistic traits and AS case-control studies | [NAME] |  |  | A membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway | TRKC; gp145(trkC); NTRK3 | 19598235 | 19598235 | 0 | 1653651, 8145824,8208292,  12424382 | 19370765, 18428117, 18363858
ODF3L2 | 284451 | outer dense fiber of sperm tails 3-like 2 | 19p13.3 | Rare single gene mutation | 1 | 1 | 0 | Rare variants in exonic deletion loci  identified in both discovery and replication cohorts, but none of 2539 controls | Q3SX64 |  |  | Unknown | C19orf19; FLJ40059; MGC129962; MGC129963 | 19557195 | 19557195 | 0
OPHN1 | 4983 | oligophrenin 1 | Xq12 | Rare single gene mutation | 1 | 0 | 0 | Missense variants identified  in ASD patients | Q7Z2H1 |  |  | A Rho-GTPase-activating protein involved in cell migration and outgrowth of axons and dendrites. | OPN1; MRX60; ARHGAP41 | 0 | 20479760 | 0 | 12807966 | 20528889, 19487570, 19481455, 17728457
OPRM1 | 4988 | opioid receptor, mu 1 | 6q24-q25 | Functional | 1 | 0 | 0 | Weak, Functional | P35372 |  | 600018 | The encoded protein has mu-opioid receptor activity. | MOR1, [NAME], KIAA0403 | 0 | 15218152 | 0 | 9087409 | 16806307
OR1C1 | 26188 | olfactory receptor, family 1, subfamily C, member 1 | 1q44 | Rare single gene mutation | 1 | 1 | 0 | Rare variants in exonic deletion loci  identified in both discovery and replication cohorts, but none of 2539 controls | Q15619 |  |  | odorant receptor | OR1-42; [NAME]; TPCR27; HSTPCR27; OR1.5.10 | 19557195 | 19557195 | 0 |  | 18989455
OXTR | 5021 | oxytocin receptor | 3p25 | Genetic Association | 5 | 5 | 0 | Replication of association | P30559 | 132219 |  | The encoded protien has oxytocin receptor activity. | OT-R | 19777562, 18207134, 15992526, 17383819, 17893705 | 15992526 | 0 | 9548257, 1313946, 7577971 | 19845972, 18356275, 17890818, 16439458, 16807802, 17287729
PARK2 | 5071 | Parkinson disease (autosomal recessive, juvenile) 2, parkin | Chromosome 6: 161,688,442-163,068,793 | [NAME] | 1 | 0 | 0 | CNV from GWA study | O60260 |  | 602544 | Ubiquitin-protein ligase | [NAME], LPRS2, PDJ, PRKN | 0 | 19404257 | 0 | 11439185, 11431533, 10888878, 9560156 | 19228951, 19339245
PCDH10 | 57575 | protocadherin 10 | 4q28.3 | Rare single gene mutation | 1 | 0 | 0 | Rare single gene mutation | Q9P2E7 |  |  | encodes a cadherin-related neuronal receptor thought to play a role in the estab lishment and function of specific cell-cell connections in the brain. | PCDH19; OL-PCDH; KIAA1400; MGC133344; DKFZP761O2023 | 0 | 18621663 | 0 | 9920663 | 18644894, 17721516
PCDH19 | 57526 | protocadherin 19 | [NAME] | Rare single gene mutation | 1 | 0 | 0 | Missense variants identified  in ASD patients | Q8TAB3 |  |  | A calcium-dependent cell-adhesion protein that is primarily expressed in the brain | EFMR | 0 | 20479760 | 0 | 18469813 | 19752159, 19615992
PCDH9 | 5101 | protocadherin 9 | 13q14.3-q21.1 | Rare single gene mutation | 1 | 0 | 0 | CNV | Q9HC56 |  |  | encodes a cadherin-related neuronal receptor that localizes to synaptic junction s |  | 0 | 18252227 | 0 | 9787079 | 17614211
PDZD4 | 57595 | PDZ domain containing 4 | Xq28 | Rare single gene mutation |  |  |  | Missense mutations identified in ASD individulas. | Q76G19 |  |  | Expressed inthe brain | LU1; PDZK4; PDZRN4L |  | 20479760 |  | 15138636, 15077175
[NAME] | 5187 | period homolog 1 (Drosophila) | 17p13.1-p12 | Genetic association | 1 | 1 | 0 | Genetic association | O15534 | 152502 |  | This gene is a member of the Period family of genes and is expressed in a circad ian pattern in the suprachiasmatic nucleus, the primary circadian pacemaker in t he mammalian brain. | PER, hPER, RIGUI, MGC88021 | 17264841 | 17264841 | 0 | 10613504 | 17535553, 17482552
PIK3CG | 5294 | phosphoinositide-3-kinase, catalytic, gamma polypeptide | 7q22.3 | Association | 1 | 1 | 0 | Nominal association | P48736 |  |  | The encoded protein has phosphatidylinositol 3-kinase activity. | PI3K, PIK3, PI3CG, PI3Kgamma | 14627686 | 14627686 | 0 | 10669418 | 16840732, 16339142
[NAME] | 5307 | paired-like homeodomain 1 | 5q31 | Association | 1 | 1 | 0 | Genetic association | P78337.2 |  |  | Transcription factoe | BFT; POTX; PTX1 | 18053270 | 18053270 | 0 | 10049363 | 17710856, 15960973
PLN | 5350 | phospholamban | 6q22.1 | Rare single gene mutation | 1 | 0 | 0 | CNV | P26678 |  |  | The encoded protein is an inhibitor of cardiac muscle sarcoplasmic reticulum Ca (2+)-ATPase in the unphosphorylated state, but inhibition is relieved upon phosp horylation of the protein. |  | 0 | 18252227 | 0 | 10555147, 12610310 | 18355039
PON1 | 5444 | paraoxonase 1 | 7q21.3 | Association | 1 | 1 | 0 | Strong Association | P27169 |  |  | The encoded protein hydrolyzes a broad spectrum of organophosphate substrates and a number of aromatic carboxylic acid esters. | ESA, PON | 16027737 | 16027737 | 0 | 10831526 | 16297937
PPP1R3F | 89801 | protein phosphatase 1, regulatory (inhibitor) subunit 3F | Xp11.23 | Rare single gene mutation | 1 | 0 | 0 | Missense mutations identified in ASD individulas. | Q6ZSY5 |  |  | Regulatory subunit of type-1 protein phosphatase | HB2E | 0 | 20479760 | 0 | 11948623
PRKCB1 | 5579 | protein kinase C, beta 1 | 16p11.2 | Association/No Association | 2 | 1 | 1 | Genetic Association | P05771 | 152829 |  | The encoded protein is one of the PKC family members. | PKCB, PRKCB, PRKCB2, MGC41878, PKC-beta | 16027742 | 16027742 | 17167344 | 9202063 | 16567829
PSMD10 | 5716 | proteasome (prosome, macropain) 26S subunit, non-ATPase, 10 | Xq22.3 | Rare single gene mutation | 1 | 0 | 0 | Missense variants identified  in ASD patients | O75832 |  |  | This gene encodes a non-ATPase proteasome subunit of the 19S regulator involved in protein degradation | gankyrin, p28 | 0 | 20479760 | 0 | 10613832, 12525503, 16023600 | 19446323, 19412159
PTCHD1 | 139411 | patched domain containing 1 | Xp22.11 | Rare single gene mutation | 1 | 0 | 0 | Single gene CNV | Q96NR3 |  |  | hedgehog receptor activity | LJ30296; MGC149798; PTCHD1 | 0 | 18252227 | 0 | 0 | 0
PTEN | 5728 | phosphatase and tensin homolog (mutated in multiple advanced cancers 1) | 10q23.3 | Syndromic autism | 2 | 1 | 0 | Autism in some individuals with extreme macrocephaly. Autistic features in some individuals with germline PTEN mutations. | P60484 |  | 601728 | The encoded protein has phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase a ctivity. | BZS, MHAM, TEP1, MMAC1, PTEN1, MGC11227 | 15805158 | 11496368 | 0 | 9778245, 9593664, 9072974 | 17427195, 16873694, 16871217, 16871217
PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxyge nase) | 1q25.2-q25.3 | Genetic Association | 1 | 1 | 0 | Association study in 151 Korean family trios | P35354 |  |  | The encoded protein is a key enzyme for prostaglandin synthesis. It has prostagl andin-endoperoxide synthase activity. | COX2, COX-2, PHS-2, PGG/HS, PGHS-2, hCox-2 | 18579107 | 18579107 | 0 | 8945508, 8637870 | 16442500, 16484297
RAB39B | 116442 | RAB39B, member RAS oncogene family | Xq28 | Rare single gene mutation / Genetic association | 1 | 0 | 0 | Mutations segregate with the disease in two families | Q96DA2 |  |  | A member of small GTPases involved in vesicular trafficking |  | 0 | 20159109 | 0 | 12438742 | 17970049
RAI1 | 10743 | retinoic acid induced 1 | 17p11.2 | Functional & Positional | 1 | 0 | 0 | Increased expression of RAI1 in a male child with autism containg a duplication of approximately 3.3 Mb on chromosome 17p11.2 | Q7Z5J4 |  |  | Mutations in RAI1 causes Smith-Magenis Syndrome | SMS; SMCR; KIAA1820; [NAME] | 0 | 17334992 | 0 | 12652298 | 20188345, 19492091, 19752160, 19319603, 18285828
RAPGEF4 | 11069 | Rap guanine nucleotide exchange factor (GEF) 4 | 2q31-q32 | Rare single gene mutation; No Association | 1 | 0 | 0 | Rare nonsynonymous variants segregate with the autistic phenotype | Q53QY2 |  |  | The encoded protein acts as a cAMP sensor and mediates cAMP-dependent, protein k inase A-independent exocytosis. | [NAME], EPAC2, [NAME], CAMP-GEFII | 0 | 14593429 | 0 | 9856955 | 19734897, 18660803, 18824540, 18565730, 16412482, 15598877
RB1CC1 | 9821 | RB1-inducible coiled-coil 1 | 8q11 | Rare single gene mutation | 1 | 0 | 0 | CNV | Q8TDY2 |  |  | FIP200 as a crucial signaling component to coordinately regulate different cellu lar events by its interaction with multiple signaling pathways. | CC1; FIP200; DRAGOU14 | 0 | 18252227 | 0 | 12068296 | 18036779
REEP3 | 221035 | receptor accessory protein 3 | 10q21.3 | Rare single gene mutation | 1 | 0 | 0 | Cytogenetic |  |  |  | one of the six human homologs of yeast Yop1p, a probable regulator of cellular v esicle trafficking between the endoplasmatic reticulum and the Golgi network. | C10orf74 | 0 | 17290275 | 0 | 11278413, 16469703 | 17290275
RELN | 5649 | [NAME] | 7q22 | Association/No Association | 8 | 4 | 4 | Strong positional and functional candidate | P78509 | 153122 |  | The encoded protein is a large extracellular matrix protein that plays a pivotal role in the neuronal cell migration and in the development of neural connection s. | RL | 16311013, 15558079, 11317216, 17955477 | 11317216 | 15048648, 15048647, 14515139, 12192627 | 10612399, 9651544, 7715726 | 19952965, 18547243, 18448255, 17881522, 16858396, 16807322, 16807322,
RFWD2 | 64326 | ring finger and WD repeat domain 2 | Chromosome 1: 174,180,590-174,442,993 | [NAME] | 1 | 0 | 0 | CNV from GWA study | Q8NHY2 |  | 608067 | Ubiquitin-protein ligase | RP11-318C24.3, COP1, FLJ10416, RNF200 | 0 | 19404257 | 0 | 11509693, 9659918, 8001131, 1423630 | 19165148, 19061637, 18815134
RHOXF1 | 158800 | Rhox homeobox family, member 1 | Chromosome X: 119,127,053-119,133,875 | Genetic Association | 1 | 1 | 0 | Suggestive association signals (P < 1 X 10 -5) in the two discovery cohorts in GWA study | Q8NHV9 |  | 300446 | Transcription factor | MGC119030, MGC119033, OTEX, PEPP1 | 19404256 | 19404256 | 0 | 11980563
RIMS3 | 9783 | regulating synaptic membrane exocytosis 3 | 1pter-p22.2 | [NAME] | 1 | 0 | 0 | Mutation screening identified five inherited coding variants from ASD probands (n=512) that were absent in  controls (n=1,161) | Q9UJD0 |  |  | Synaptic protein essential for vesicle fusion and normal neurotransmitter release | [NAME]; [NAME]; KIAA0237; RIMS3 | 0 | 19546099 | 0 | 10748113 | 18490030
[NAME] | 6091 | roundabout, axon guidance receptor, homolog 1 (Drosophila) | 3p12 | Functional | 1 | 0 | 0 | Differential expression in lymphoid cell lines from individuals with autism spec trum disorders. | Q9Y6N7 |  |  | The encoded protein is an axon guidance receptor and a cell adhesion receptor. | SAX3, DUTT1, FLJ21882, MGC131599, MGC133277 | 0 | 16709250 | 0 | 11734623 | 16690755, 16700909
RPL10 | 6134 | ribosomal protein L10 | Xq28 | Rare single gene mutation | 1 | 0 | 0 | Single gene mutation | P27635 |  |  | This gene encodes a ribosomal protein that is a component of the 60S subunit. Th e protein belongs to the L10E family of ribosomal proteins. | QM; NOV; DXS648; DXS648E; FLJ23544; FLJ27072; DKFZp686J1851 | 0 | 16940977 | 0 | 12138090 | 18187511, 17761675, 16741966, 16627977
RPS6KA2 | 6196 | ribosomal protein S6 kinase, 90kDa, polypeptide 2 | 6q27 | Rare single gene mutation | 1 | 0 | 0 | CNV | Q15349 |  |  | This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/thr eonine kinases. | SK; HU-2; [NAME]; p90-RSK3; pp90RSK3; MAPKAPK1C; S6K-alpha; S6K-alpha2 | 0 | 18252227 | 0 | 7623830 | 16878154
SCN1A | 6323 | sodium channel, voltage-gated, type I, alpha subunit | 2q24.3 | Rare single gene mutation | 1 | 0 | 0 | Rare single-gene mutation | P35498 |  |  | voltage-gated ion channel essential for the generation and propagation of action potentials, chiefly in nerve and muscle. | Na(v)1.1, FEB3; NAC1; [NAME]; SMEI; HBSCI; GEFSP2; Nav1.1 | 0 | 12610651 | 0 | 10742094, 11359211 | 17105460, 17537961, 17507202
SCN2A | 6326 | sodium channel, voltage-gated, type II, alpha subunit | 2q23-q24 | Rare single gene mutation | 1 | 0 | 0 | single-gene mutation | Q99250 |  |  | voltage-gated ion channel essential for the generation and propagation of action potentials, chiefly in nerve and muscle. | HBA; [NAME]; HBSCI; [NAME]; Nav1.2; SCN2A1; SCN2A2; Na(v)1.2 | 0 | 12610651 | 0 | 12829783, 11371648, 11343648 | 17544618, 17468742
SDC2 | 6383 | syndecan 2 (heparan sulfate proteoglycan 1, cell surface-associated, fibroglycan ) | 8q22-q23 | Functional | 1 | 0 | 0 | Functional candidate | P34741 |  | 142460 | The encoded protein is s a transmembrane (type I) heparan sulfate proteoglycan a nd is a member of the syndecan proteoglycan family. | HSPG, [NAME], SYND2 | 0 | 9259269 | 0 | 9660868 | 16574663
SEMA5A | 9037 | sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembran e domain (TM) and short cytoplasmic domain, (semaphorin) 5A | 5p15.2 | Functional | 1 | 0 | 0 | Expression profiling | [NAME] |  |  | The encoded protein is a member of semaphorin protein family that plays role in axonal guidance during neural development. | Semaphorin 5A, semF, SEMAF | 0 | 17028446 | 0 | 15743826 | 15603739, 15218527
SEZ6L2 | 26470 | SEZ6L2 seizure related 6 homolog (mouse)-like 2 | 16p11.2 | Rare single gene mutation | 1 | 0 | 0 | Autism-specific R386H amino acid substitution in exon 7 of the seizure-related gene SEZ6L2 in the initial screen;  no replication | Q6UXD5 |  |  | transmembrane receptor | PSK-1; FLJ90517; SEZ6L2 | 0 | 19242545 | 0 | 16814779 | 19260139, 18184952, 18156158
SH3KBP1 | 30011 | SH3-domain kinase binding protein 1 | Xp22.1-p21.3 | Rare single gene mutation | 1 | 0 | 0 | Missense variants identified  in ASD inividuals | Q96B97 |  |  | An adaptor protein that facilitates protein-protein interactions | HSB1; CIN85; GIG10; HSB-1; MIG18; CD2BP3; SH3KBP1 | 0 | 20479760 | 0 | 11894095 | 20551902, 20451383
SHANK2 | 22941 | SH3 and multiple ankyrin repeat domains 2 | 11q13.3-q13.4 | Rare single gene mutation | 1 | 0 | 0 | Microdeletion and missence mutations were identified in ASD cases but not in controls | Q9UPX8 |  |  | Shank proteins contain multiple domains for protein-protein interactions and function as molecular scaffolds in the postsynaptic density (PSD). | [NAME]; CTTNBP1; ProSAP1; SPANK-3; SHANK2 | 0 | 20473310 | 0 | 10806096, 15632121 | 20347015, 20080968, 19805144
SHANK3 | 85358 | SH3 and multiple ankyrin repeat domains 3 | 22q13.3 | Rare single gene mutation | 4 | 0 | 2 | Haploinsufficiency of SHANK3 can cause a monogenic form of autism | Q9BYB0 |  |  | The gene encodes a synaptic adaptor protein. | PSAP2, PROSAP2, [NAME], KIAA1650 | 0 | 17173049 | 19566951, 19384346 | 10527873 | 20385823, 20186804, 19635471, 19703901, 19481056, 19454329, 19481056, 18615476, 18563458, 18272690, 17999366, 16439662
SLC1A1 | 6505 | solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system [NAME]), member 1 | 9p24 | Candidate gene association | 1 | 0 | 0 | [NAME] revealed nominally significant association | P43005 |  |  | High-affinity glutamate transporter | EAAC1; EAAT3 | 0 | 19360657 | 0 | 9542890, 8785064, 1280334, 11242046 | 20155310
SLC25A12 | 8604 | solute carrier family 25 (mitochondrial carrier, Aralar), member 12 | 2q24 | Association/No Association | 6 | 2 | 4 | Replication of association | O75746 | 153567 | 603667 | The encoded protein has solute:cation symporter activity. | ARALAR, ARALAR1 | 16263864, 15056512 | 15056512 | 19913066, 16648338, 16205742, 17151801 | 9722566 | 18180767, 17894412, 17497669, 16269409
SLC4A10 | 57282 | solute carrier family 4, sodium bicarbonate transporter-like, member 10 | 2q23-q24 | Rare single gene mutation | 1 | 0 | 0 | Single gene CNV | Q6U841 |  |  | inorganic anion exchanger activity |  | 0 | 17363630 | 0 | 14592810 | 15283764
SLC6A4 | 6532 | solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 | 17q11.1-q12 | Association/No Association | 9 | 6 | 3 | Strong functional candidate | P31645 | 153781 | 182138 | The encoded protein has serotonin transporter activity, serotonin:sodium symport er activity. | HTT, 5HTT, OCD1, SERT, 5-HTT, hSERT | 9152989, 15995945, 15635668, 15094787, 12232775, 11920155 | 9152989 | 16616719, 15882779, 15108191 | 12130784 | 16534505
SLC6A8 | 6535 | solute carrier family 6 (neurotransmitter transporter, creatine), member 8 | Xq28 | Syndromic autism | 1 | 0 | 0 | Autism in some individuals with creatine deficiency syndrome. | P48029 |  |  | The encoded protein has creatine:sodium symporter activity. | CT1, CRTR, MGC87396 | 0 | 16601898 | 0 | 11326334 | 16763899, 16601898
SLC9A6 | 10479 | solute carrier family 9 (sodium/hydrogen exchanger), member 6 | [NAME] | Syndromic autism | 1 | 0 | 0 | A 9-bp deletion within exon 8 segragates with severe mental retardation and autism  in a large family | Q92581 |  |  | Regulation of endosomal pH and volume | MRSA; NHE6; KIAA0267 | 0 | 20395263 | 0 | 18342287 | 20130086, 19471312
SLC9A9 | 285195 | solute carrier family 9 (sodium/hydrogen exchanger), member 9 | 3q24 | Rare single gene mutation | 1 | 0 | 0 | Rare single gene mutation | Q8IVB4 |  | 608396 | enzyme involved in pH regulation | NHE9 | 0 | 18621663 | 0 | 14569117 | 18937294, 18057008, 17005858
ST7 | 7982 | suppression of tumorigenicity 7 | [NAME] | Rare single gene mutation | 1 | 0 | 0 | Cytogenetic evidence | [NAME] |  | 600833 | The encoded protein is a tumor supressor. | HELG, [NAME], SEN4, TSG7, ETS7q, FAM4A1, DKFZp762O2113 | 0 | 10889047 | 0 | 11279520 | 11279520
STK39 | 27347 | [NAME] 39 (STE20/SPS1 homolog, yeast) | 2q24.3 | Association | 1 | 1 | 0 | Genetic association | Q9UEW8.2 |  |  | This gene encodes a serine/threonine kinase implicated in the cellular stress re sponse pathway | DCHT; PASK; SPAK; [NAME] | 18348195 | 18348195 | 0 | 12386165 | 19114657, 18843116, 18270262
SUCLG2 | 8801 | succinate-CoA ligase, GDP-forming, beta subunit | 3p14.1 | Rare single gene mutation | 1 | 1 | 0 | Rare variants in exonic deletion loci  identified in both discovery and replication cohorts, but none of 2539 controls | Q96I99 |  |  | A mitochondrial matrix enzyme | G-BETA | 19557195 | 19557195 | 0 | 19631775 | 18452512
SYT17 | 51760 | [NAME] | Chromosome 16: 19,074,715-19,186,055 | Genetic Association | 1 | 1 | 0 | Suggestive association signals (P < 1 X 10 -5) in the two discovery cohorts in GWA study | Q9BSW7 |  |  |  | B/K protein | 19404256 | 19404256 | 0 | 0 | 0
TDO2 | 6999 | tryptophan 2,3-dioxygenase | 4q31-q32 | Association | 1 | 1 | 0 | Medium | P48775 |  |  | The encoded protein plays an essential role in tryptophan metabolism. | TDO, TPH2, TRPO | 14755447 | 14755447 | 0 | 10580097 | 16448631, 15780178
TH | 7054 | [NAME] | 11p15.5 | No Association | 2 | 0 | 3 | Functional | [NAME] | 136176 | 191290 | The encoded protein has tyrosine 3-monooxygenase activity. | TYH | 0 | 7786965 | 7786965, 11857571, 8098541 | 14216443, 6152036 | 16854387
TMEM195 | 392636 | hypothetical protein LOC392636 | [NAME] | Rare single gene mutation | 1 | 0 | 0 | Single-gene CNV | Q6ZNB7 |  |  | putative sterol desaturase | FLJ16237 (name in primary reference); [NAME] | 0 | 17363630 | 0 | 17363630 | 17363630
TPH2 | 121278 | tryptophan hydroxylase 2 | 12q21.1 | Association/No Association | 2 | 1 | 1 | Mixed | [NAME] |  |  | The encoded protein has tryptophan 5-monooxygenase activity | NTPH, FLJ37295 | 15768392 | 15768392 | 16581035 | 15247473, 15629698 | 16864580, 16847459 , 16801378
[NAME] | 7248 | tuberous sclerosis 1 | 9q34 | Syndromic autism | > 10 | 0 | 0 | Seconday autism in a subset of individuals with tuberous sclerosis. Inactivatin g mutations in either [NAME] or TSC2 are responsible for this syndrome. | Q59IT9 |  | 605284 | The encoded protein is a tumor supressor. | LAM, TSC, KIAA0243, MGC86987 | 0 | 9813776 | 0 | 9580671, 12172555 | 18794346, 18067135, 17376623,16286931, 15362169
TSC2 | 7249 | tuberous sclerosis 2 | 16p13.3 | Syndromic autism | >10 | 1 | 0 | Seconday autism in a subset of individuals with tuberous sclerosis. Inactivatin g mutations in either [NAME] or TSC2 are responsible for this syndrome. | P49815 |  | 191092 | The encoded protein is a tumor supressor. | LAM, TSC4, FLJ43106 | 14627686 | 9813776 | 0 | 9580671, 12172555 | 18794346, 18568033, 18568033, 16286931, 15362169
TSN | 7247 | [NAME] | 2q21.1 | Functional | 1 | 0 | 0 | Interesting functional candidate | Q15631 |  |  | The encoded protein has RNA binding activity. | TRSLN, BCLF-1, REHF-1 | 0 | 16495445 | 0 | 7663511 | 16707626
TSPAN7 | 7102 | tetraspanin 7 | Xp11.4 | Rare single gene mutation | 1 | 0 | 0 | Missense variants identified  in ASD probands | P41732 |  |  | A cell surface glycoprotein with a role in the control of neurite outgrowth | A15; MXS1; CD231; MRX58; CCG-B7; TM4SF2; TALLA-1; TM4SF2b; DXS1692E | 0 | 20479760 | 0 | 10655063, 12070254 | 19339915
UBE2H | 7328 | ubiquitin-conjugating enzyme E2H (UBC8 homolog, yeast) | 7q32 | Association | 1 | 1 | 0 | Strong | [NAME] |  |  | The encoded protein has ubiquitin-protein ligase activity. | ubiquitin carrier protein H, ubiquitin-conjugating enzyme E2H, ubiquitin-conjuga ting enzyme E2H (homologous to yeast [NAME]), ubiquitin-protein ligase HUBC8, UBCH , UBCH2, E2-20K | 14639049 | 14639049 | 0
UBE3A | 7337 | ubiquitin protein ligase E3A (human papilloma virus E6-associated protein, [NAME] man syndrome) | 15q11-q13 | Association /Rare single gene mutation | 2 | 1 | 0 | Positional and functional candidate | Q05086 |  |  | The encoded protein has ubiquitin-protein ligase activity. | AS, ANCR, E6-AP, HPVE6A, EPVE6AP, FLJ26981 | 11543639 | 11543639 | 0 | 8988171 | 20211139, 20212164, 19430469, 19404257, 18846633, 16754645, 16575182
VASH1 | 22846 | vasohibin 1 | Chromosome 14: 76,298,285-76,319,107 | Genetic Association | 1 | 1 | 0 | Suggestive association signals (P < 1 X 10 -5) in the two discovery cohorts in GWA study | Q7L8A9 |  | 609011 |  | KIAA1036 | 19404256 | 19404256 | 0 | 0 | 19179360, 19204325
WNK3 | 65267 | WNK lysine deficient protein kinase 3 | Xp11.23-p11.21 | Rare single gene mutation | 1 | 0 | 0 | Missense mutations identified in ASD individulas. | Q9BYP7 |  |  | The encoed protein belongs to the family of serine-threonine kinases that functions as modulator of diverse ion transport pathways. | PRKWNK3; FLJ30437; [NAME]; [NAME]; WNK3 | 0 | 20479760 | 0 | 16275911 | 19932740 , 18550832, 18498374
WNT2 | 7472 | wingless-type MMTV integration site family member 2 | 7q31 | Association/No association | 4 | 2 | 2 | Weak | P09544 | 138055 | 147870 | The encoded protein is a constituent of the extracellular matrix and plays a rol e in signal transduction. | IRP, INT1L1 | 19895723, 11449391 | 11449391 | 15048648, 11840514 | 8951051 | 16621466, 16554359
XPC | 7508 | xeroderma pigmentosum, complementation group C | 3p25 | Syndromic autism | 2 | 0 | 0 | Autism associated with xeroderma pigmentosum. | Q01831 |  | 278720 | The encoded protein plays a role in DNA excision repair. | XP3, XPCC | 0 | 9804340 | 0 | 16860562, 15964983, 15882621,10604143 | 7675084, 8756644, 9372924