Trait
Autism
Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV).
Summary
- Body system
- Abnormality of the nervous system
Reference genomeGRCh38hg38
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Get my Genome Test297 genes linked to Autism
Changes in these genes cause rare conditions in which Autism is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| ABCB7ATP binding cassette subfamily B member 7 | Always | In 2 conditions |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Always | In 1 condition |
| AMOTL1angiomotin like 1 | Always | In 1 condition |
| ASXL3ASXL transcriptional regulator 3 | Always | In 1 condition |
| CCT3chaperonin containing TCP1 subunit 3 | Always | In 1 condition |
| EIF4A2eukaryotic translation initiation factor 4A2 | Always | In 1 condition |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Always | In 2 conditions |
| GLRA2glycine receptor alpha 2 | Always | In 1 condition |
| GUK1guanylate kinase 1 | Always | In 1 condition |
| IKZF2IKAROS family zinc finger 2 | Always | In 1 condition |
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Always | In 1 condition |
| KDM6Blysine demethylase 6B | Always | In 1 condition |
| MOCS3molybdenum cofactor synthesis 3 | Always | In 1 condition |
| MSL2MSL complex subunit 2 | Always | In 1 condition |
| NONOnon-POU domain containing octamer binding | Always | In 2 conditions |
| NSUN2NOP2/Sun RNA methyltransferase 2 | Always | In 1 condition |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Always | In 1 condition |
| PTCHD1patched domain containing 1 | Always | In 1 condition |
| PTENphosphatase and tensin homolog | Always | In 2 conditions |
| RNU2-2RNA, U2 small nuclear 2 | Always | In 1 condition |
| RNU5B-1RNA, U5B small nuclear 1 | Always | In 1 condition |
| RNU6ATACRNA, U6atac small nuclear | Always | In 1 condition |
| RPL17ribosomal protein L17 | Always | In 1 condition |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Always | In 1 condition |
| SOX17SRY-box transcription factor 17 | Always | In 1 condition |
| TMLHEtrimethyllysine hydroxylase, epsilon | Always | In 1 condition |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Always | In 1 condition |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Always | In 1 condition |
| UNC13Aunc-13 homolog A | Always | In 1 condition |
| YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | Always | In 1 condition |
| ANKRD11ankyrin repeat domain 11 | Very often (80–99%) | In 1 condition |
| LRRC7leucine rich repeat containing 7 | Very often (80–99%) | In 1 condition |
| NAGAalpha-N-acetylgalactosaminidase | Very often (80–99%) | In 2 conditions |
| NHSNHS actin remodeling regulator | Very often (80–99%) | In 2 conditions |
| RAI1retinoic acid induced 1 | Very often (80–99%) | In 2 conditions |
| ADNPactivity dependent neuroprotector homeobox | Often (30–79%) | In 1 condition |
| AHDC1AT-hook DNA binding motif containing 1 | Often (30–79%) | In 2 conditions |
| ARL6ARF like GTPase 6 | Often (30–79%) | In 1 condition |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Often (30–79%) | In 1 condition |
| ATRXATRX chromatin remodeler | Often (30–79%) | In 1 condition |
Show 257 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Often (30–79%) | In 1 condition |
| BBIP1BBSome interacting protein 1 | Often (30–79%) | In 1 condition |
| BBS1Bardet-Biedl syndrome 1 | Often (30–79%) | In 1 condition |
| BBS10Bardet-Biedl syndrome 10 | Often (30–79%) | In 1 condition |
| BBS12Bardet-Biedl syndrome 12 | Often (30–79%) | In 1 condition |
| BBS2Bardet-Biedl syndrome 2 | Often (30–79%) | In 1 condition |
| BBS4Bardet-Biedl syndrome 4 | Often (30–79%) | In 1 condition |
| BBS5Bardet-Biedl syndrome 5 | Often (30–79%) | In 1 condition |
| BBS7Bardet-Biedl syndrome 7 | Often (30–79%) | In 1 condition |
| BBS9Bardet-Biedl syndrome 9 | Often (30–79%) | In 1 condition |
| BCKDKbranched chain keto acid dehydrogenase kinase | Often (30–79%) | In 1 condition |
| BCL11ABCL11 transcription factor A | Often (30–79%) | In 1 condition |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Often (30–79%) | In 1 condition |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Often (30–79%) | In 1 condition |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Often (30–79%) | In 1 condition |
| CASZ1castor zinc finger 1 | Often (30–79%) | In 1 condition |
| CEP19centrosomal protein 19 | Often (30–79%) | In 1 condition |
| CEP290centrosomal protein 290 | Often (30–79%) | In 1 condition |
| CFAP418cilia and flagella associated protein 418 | Often (30–79%) | In 1 condition |
| CHD1chromodomain helicase DNA binding protein 1 | Often (30–79%) | In 1 condition |
| CHD7chromodomain helicase DNA binding protein 7 | Often (30–79%) | In 1 condition |
| CHD8chromodomain helicase DNA binding protein 8 | Often (30–79%) | In 2 conditions |
| CLIP2CAP-Gly domain containing linker protein 2 | Often (30–79%) | In 1 condition |
| DEAF1DEAF1 transcription factor | Often (30–79%) | In 2 conditions |
| DHCR77-dehydrocholesterol reductase | Often (30–79%) | In 2 conditions |
| DICER1dicer 1, ribonuclease III | Often (30–79%) | In 1 condition |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Often (30–79%) | In 1 condition |
| DOCK7dedicator of cytokinesis 7 | Often (30–79%) | In 1 condition |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Often (30–79%) | In 1 condition |
| EHMT1euchromatic histone lysine methyltransferase 1 | Often (30–79%) | In 2 conditions |
| EIF4Heukaryotic translation initiation factor 4H | Often (30–79%) | In 1 condition |
| ELNelastin | Often (30–79%) | In 1 condition |
| EXT2exostosin glycosyltransferase 2 | Often (30–79%) | In 1 condition |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Often (30–79%) | In 1 condition |
| FRYLFRY like transcription coactivator | Often (30–79%) | In 1 condition |
| FTSJ1FtsJ RNA 2'-O-methyltransferase 1 | Often (30–79%) | In 1 condition |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Often (30–79%) | In 1 condition |
| GTF2Igeneral transcription factor IIi | Often (30–79%) | In 1 condition |
| GTF2IRD1GTF2I repeat domain containing 1 | Often (30–79%) | In 1 condition |
| GTF2IRD2GTF2I repeat domain containing 2 | Often (30–79%) | In 1 condition |
| HSPG2heparan sulfate proteoglycan 2 | Often (30–79%) | In 1 condition |
| IFNGinterferon gamma | Often (30–79%) | In 2 conditions |
| IFT172intraflagellar transport 172 | Often (30–79%) | In 1 condition |
| IFT27intraflagellar transport 27 | Often (30–79%) | In 1 condition |
| IFT74intraflagellar transport 74 | Often (30–79%) | In 1 condition |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Often (30–79%) | In 1 condition |
| KRASKRas proto-oncogene, GTPase | Often (30–79%) | In 1 condition |
| LIMK1LIM domain kinase 1 | Often (30–79%) | In 1 condition |
| LUZP1leucine zipper protein 1 | Often (30–79%) | In 1 condition |
| LZTFL1leucine zipper transcription factor like 1 | Often (30–79%) | In 1 condition |
| MAGEL2MAGE family member L2 | Often (30–79%) | In 4 conditions |
| MAP2K1mitogen-activated protein kinase kinase 1 | Often (30–79%) | In 1 condition |
| MAP2K2mitogen-activated protein kinase kinase 2 | Often (30–79%) | In 1 condition |
| METTL27methyltransferase like 27 | Often (30–79%) | In 1 condition |
| MKKSMKKS centrosomal shuttling protein | Often (30–79%) | In 1 condition |
| MKS1MKS transition zone complex subunit 1 | Often (30–79%) | In 1 condition |
| MMP23Bmatrix metallopeptidase 23B | Often (30–79%) | In 1 condition |
| NCF1neutrophil cytosolic factor 1 | Often (30–79%) | In 1 condition |
| NDNnecdin, MAGE family member | Often (30–79%) | In 3 conditions |
| NLGN3neuroligin 3 | Often (30–79%) | In 2 conditions |
| NPHP1nephrocystin 1 | Often (30–79%) | In 1 condition |
| NSUN6NOP2/Sun RNA methyltransferase 6 | Often (30–79%) | In 1 condition |
| OCA2OCA2 melanosomal transmembrane protein | Often (30–79%) | In 3 conditions |
| PAK2p21 (RAC1) activated kinase 2 | Often (30–79%) | In 1 condition |
| PDPNpodoplanin | Often (30–79%) | In 1 condition |
| PRDM16PR/SET domain 16 | Often (30–79%) | In 1 condition |
| PRKCZprotein kinase C zeta | Often (30–79%) | In 1 condition |
| RELREL proto-oncogene, NF-kB subunit | Often (30–79%) | In 1 condition |
| REREarginine-glutamic acid dipeptide repeats | Often (30–79%) | In 1 condition |
| RFC2replication factor C subunit 2 | Often (30–79%) | In 1 condition |
| RPL10ribosomal protein L10 | Often (30–79%) | In 1 condition |
| SCAPERS-phase cyclin A associated protein in the ER | Often (30–79%) | In 1 condition |
| SCLT1sodium channel and clathrin linker 1 | Often (30–79%) | In 1 condition |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Often (30–79%) | In 1 condition |
| SEMA3Esemaphorin 3E | Often (30–79%) | In 1 condition |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Often (30–79%) | In 1 condition |
| SIN3ASIN3 transcription regulator family member A | Often (30–79%) | In 1 condition |
| SKISKI proto-oncogene | Often (30–79%) | In 1 condition |
| SLC35C1solute carrier family 35 member C1 | Often (30–79%) | In 1 condition |
| SLC9A6solute carrier family 9 member A6 | Often (30–79%) | In 1 condition |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Often (30–79%) | In 4 conditions |
| SPENspen family transcriptional repressor | Often (30–79%) | In 1 condition |
| STX1Asyntaxin 1A | Often (30–79%) | In 1 condition |
| TAF4TATA-box binding protein associated factor 4 | Often (30–79%) | In 1 condition |
| TBCBtubulin folding cofactor B | Often (30–79%) | In 1 condition |
| TBL2transducin beta like 2 | Often (30–79%) | In 1 condition |
| TMEM270transmembrane protein 270 | Often (30–79%) | In 1 condition |
| TRIM32tripartite motif containing 32 | Often (30–79%) | In 1 condition |
| TSC1TSC complex subunit 1 | Often (30–79%) | In 2 conditions |
| TSC2TSC complex subunit 2 | Often (30–79%) | In 2 conditions |
| TTC8tetratricopeptide repeat domain 8 | Often (30–79%) | In 1 condition |
| UBE3Aubiquitin protein ligase E3A | Often (30–79%) | In 1 condition |
| UBE4Bubiquitination factor E4B | Often (30–79%) | In 1 condition |
| VPS37DVPS37D subunit of ESCRT-I | Often (30–79%) | In 1 condition |
| WDPCPWD repeat containing planar cell polarity effector | Often (30–79%) | In 1 condition |
| WSB2WD repeat and SOCS box containing 2 | Often (30–79%) | In 1 condition |
| XPO1exportin 1 | Often (30–79%) | In 1 condition |
| ZFXzinc finger protein X-linked | Often (30–79%) | In 1 condition |
| AARS1alanyl-tRNA synthetase 1 | Sometimes (5–29%) | In 1 condition |
| ACTL6Bactin like 6B | Sometimes (5–29%) | In 1 condition |
| ALADaminolevulinate dehydratase | Sometimes (5–29%) | In 1 condition |
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Sometimes (5–29%) | In 1 condition |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Sometimes (5–29%) | In 1 condition |
| AQP4aquaporin 4 | Sometimes (5–29%) | In 1 condition |
| ARCN1archain 1 coat protein complex I subunit delta | Sometimes (5–29%) | In 1 condition |
| ARNT2aryl hydrocarbon receptor nuclear translocator 2 | Sometimes (5–29%) | In 1 condition |
| ARVCFARVCF delta catenin family member | Sometimes (5–29%) | In 1 condition |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Sometimes (5–29%) | In 1 condition |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Sometimes (5–29%) | In 1 condition |
| ATP6V1AATPase H+ transporting V1 subunit A | Sometimes (5–29%) | In 1 condition |
| BRD4bromodomain containing 4 | Sometimes (5–29%) | In 1 condition |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Sometimes (5–29%) | In 1 condition |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Sometimes (5–29%) | In 1 condition |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Sometimes (5–29%) | In 1 condition |
| CDK13cyclin dependent kinase 13 | Sometimes (5–29%) | In 1 condition |
| CDK19cyclin dependent kinase 19 | Sometimes (5–29%) | In 1 condition |
| CELF2CUGBP Elav-like family member 2 | Sometimes (5–29%) | In 1 condition |
| CHRNA7cholinergic receptor nicotinic alpha 7 subunit | Sometimes (5–29%) | In 1 condition |
| CLTCclathrin heavy chain | Sometimes (5–29%) | In 1 condition |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Sometimes (5–29%) | In 1 condition |
| CNTNAP2contactin associated protein 2 | Sometimes (5–29%) | In 1 condition |
| COMTcatechol-O-methyltransferase | Sometimes (5–29%) | In 1 condition |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Sometimes (5–29%) | In 1 condition |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Sometimes (5–29%) | In 1 condition |
| DALRD3DALR anticodon binding domain containing 3 | Sometimes (5–29%) | In 1 condition |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Sometimes (5–29%) | In 1 condition |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Sometimes (5–29%) | In 1 condition |
| DHTKD1dehydrogenase E1 and transketolase domain containing 1 | Sometimes (5–29%) | In 1 condition |
| DNM1dynamin 1 | Sometimes (5–29%) | In 1 condition |
| DOT1LDOT1 like histone lysine methyltransferase | Sometimes (5–29%) | In 1 condition |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Sometimes (5–29%) | In 1 condition |
| DPYDdihydropyrimidine dehydrogenase | Sometimes (5–29%) | In 1 condition |
| DPYSdihydropyrimidinase | Sometimes (5–29%) | In 2 conditions |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Sometimes (5–29%) | In 1 condition |
| ERI1exoribonuclease 1 | Sometimes (5–29%) | In 1 condition |
| FBXO28F-box protein 28 | Sometimes (5–29%) | In 1 condition |
| FGF12fibroblast growth factor 12 | Sometimes (5–29%) | In 1 condition |
| FGFR1fibroblast growth factor receptor 1 | Sometimes (5–29%) | In 1 condition |
| FLGfilaggrin | Sometimes (5–29%) | In 1 condition |
| FMR1fragile X messenger ribonucleoprotein 1 | Sometimes (5–29%) | In 2 conditions |
| FOXG1forkhead box G1 | Sometimes (5–29%) | In 1 condition |
| FZR1fizzy and cell division cycle 20 related 1 | Sometimes (5–29%) | In 1 condition |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Sometimes (5–29%) | In 1 condition |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Sometimes (5–29%) | In 1 condition |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Sometimes (5–29%) | In 1 condition |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Sometimes (5–29%) | In 1 condition |
| GAMTguanidinoacetate N-methyltransferase | Sometimes (5–29%) | In 1 condition |
| GNB1G protein subunit beta 1 | Sometimes (5–29%) | In 1 condition |
| GP1BBglycoprotein Ib platelet subunit beta | Sometimes (5–29%) | In 1 condition |
| GPRC5BG protein-coupled receptor class C group 5 member B | Sometimes (5–29%) | In 1 condition |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Sometimes (5–29%) | In 1 condition |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Sometimes (5–29%) | In 1 condition |
| H4C5H4 clustered histone 5 | Sometimes (5–29%) | In 1 condition |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Sometimes (5–29%) | In 1 condition |
| HDAC4histone deacetylase 4 | Sometimes (5–29%) | In 1 condition |
| HDAC8histone deacetylase 8 | Sometimes (5–29%) | In 1 condition |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Sometimes (5–29%) | In 1 condition |
| HEPACAMhepatic and glial cell adhesion molecule | Sometimes (5–29%) | In 1 condition |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Sometimes (5–29%) | In 1 condition |
| HESX1HESX homeobox 1 | Sometimes (5–29%) | In 1 condition |
| HIRAhistone cell cycle regulator | Sometimes (5–29%) | In 1 condition |
| HIVEP2HIVEP zinc finger 2 | Sometimes (5–29%) | In 1 condition |
| HNF1BHNF1 homeobox B | Sometimes (5–29%) | In 1 condition |
| IQSEC2IQ motif and Sec7 domain ArfGEF 2 | Sometimes (5–29%) | In 1 condition |
| JMJD1Cjumonji domain containing 1C | Sometimes (5–29%) | In 1 condition |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Sometimes (5–29%) | In 1 condition |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Sometimes (5–29%) | In 1 condition |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Sometimes (5–29%) | In 1 condition |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Sometimes (5–29%) | In 1 condition |
| KDM5Clysine demethylase 5C | Sometimes (5–29%) | In 1 condition |
| KICS2KICSTOR subunit 2 | Sometimes (5–29%) | In 1 condition |
| KMT2Alysine methyltransferase 2A | Sometimes (5–29%) | In 1 condition |
| LHX1LIM homeobox 1 | Sometimes (5–29%) | In 1 condition |
| MAN1B1mannosidase alpha class 1B member 1 | Sometimes (5–29%) | In 1 condition |
| MAU2MAU2 sister chromatid cohesion factor | Sometimes (5–29%) | In 1 condition |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Sometimes (5–29%) | In 1 condition |
| MED12mediator complex subunit 12 | Sometimes (5–29%) | In 2 conditions |
| MED13Lmediator complex subunit 13L | Sometimes (5–29%) | In 2 conditions |
| MEIS2Meis homeobox 2 | Sometimes (5–29%) | In 1 condition |
| MKRN3makorin ring finger protein 3 | Sometimes (5–29%) | In 1 condition |
| MLC1modulator of VRAC current 1 | Sometimes (5–29%) | In 1 condition |
| NAA20N-alpha-acetyltransferase 20, NatB catalytic subunit | Sometimes (5–29%) | In 1 condition |
| NDPnorrin cystine knot growth factor NDP | Sometimes (5–29%) | In 1 condition |
| NECAP1NECAP endocytosis associated 1 | Sometimes (5–29%) | In 1 condition |
| NFIBnuclear factor I B | Sometimes (5–29%) | In 1 condition |
| NIPA1NIPA magnesium transporter 1 | Sometimes (5–29%) | In 1 condition |
| NIPA2NIPA magnesium transporter 2 | Sometimes (5–29%) | In 1 condition |
| NIPBLNIPBL cohesin loading factor | Sometimes (5–29%) | In 1 condition |
| NPAP1nuclear pore associated protein 1 | Sometimes (5–29%) | In 1 condition |
| NR2F1nuclear receptor subfamily 2 group F member 1 | Sometimes (5–29%) | In 1 condition |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Sometimes (5–29%) | In 1 condition |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Sometimes (5–29%) | In 1 condition |
| OTX2orthodenticle homeobox 2 | Sometimes (5–29%) | In 1 condition |
| PACS2phosphofurin acidic cluster sorting protein 2 | Sometimes (5–29%) | In 1 condition |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Sometimes (5–29%) | In 1 condition |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Sometimes (5–29%) | In 1 condition |
| PLXND1plexin D1 | Sometimes (5–29%) | In 1 condition |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Sometimes (5–29%) | In 1 condition |
| PROKR2prokineticin receptor 2 | Sometimes (5–29%) | In 1 condition |
| PWAR1Prader Willi/Angelman region RNA 1 | Sometimes (5–29%) | In 1 condition |
| PWRN1Prader-Willi region non-protein coding RNA 1 | Sometimes (5–29%) | In 1 condition |
| RAD21RAD21 cohesin complex component | Sometimes (5–29%) | In 1 condition |
| REV3LREV3 like, DNA directed polymerase zeta catalytic subunit | Sometimes (5–29%) | In 1 condition |
| RREB1ras responsive element binding protein 1 | Sometimes (5–29%) | In 1 condition |
| SATB1SATB homeobox 1 | Sometimes (5–29%) | In 1 condition |
| SATB2SATB homeobox 2 | Sometimes (5–29%) | In 1 condition |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Sometimes (5–29%) | In 1 condition |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Sometimes (5–29%) | In 1 condition |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Sometimes (5–29%) | In 1 condition |
| SEC24CSEC24 homolog C, COPII component | Sometimes (5–29%) | In 1 condition |
| SH2B1SH2B adaptor protein 1 | Sometimes (5–29%) | In 1 condition |
| SLC13A5solute carrier family 13 member 5 | Sometimes (5–29%) | In 1 condition |
| SLC1A2solute carrier family 1 member 2 | Sometimes (5–29%) | In 1 condition |
| SLC38A3solute carrier family 38 member 3 | Sometimes (5–29%) | In 1 condition |
| SMAD4SMAD family member 4 | Sometimes (5–29%) | In 1 condition |
| SMC1Astructural maintenance of chromosomes 1A | Sometimes (5–29%) | In 1 condition |
| SMC3structural maintenance of chromosomes 3 | Sometimes (5–29%) | In 1 condition |
| SNORD115-1small nucleolar RNA, C/D box 115-1 | Sometimes (5–29%) | In 1 condition |
| SNORD116-1small nucleolar RNA, C/D box 116-1 | Sometimes (5–29%) | In 1 condition |
| SOX2SRY-box transcription factor 2 | Sometimes (5–29%) | In 1 condition |
| SOX3SRY-box transcription factor 3 | Sometimes (5–29%) | In 1 condition |
| SPTBN1spectrin beta, non-erythrocytic 1 | Sometimes (5–29%) | In 1 condition |
| STSsteroid sulfatase | Sometimes (5–29%) | In 2 conditions |
| SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit | Sometimes (5–29%) | In 1 condition |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Sometimes (5–29%) | In 1 condition |
| SYNJ1synaptojanin 1 | Sometimes (5–29%) | In 1 condition |
| SZT2SZT2 subunit of KICSTOR complex | Sometimes (5–29%) | In 1 condition |
| TAOK1TAO kinase 1 | Sometimes (5–29%) | In 1 condition |
| TBX1T-box transcription factor 1 | Sometimes (5–29%) | In 2 conditions |
| TRAK1trafficking kinesin protein 1 | Sometimes (5–29%) | In 1 condition |
| TUBG1tubulin gamma 1 | Sometimes (5–29%) | In 1 condition |
| UBA5ubiquitin like modifier activating enzyme 5 | Sometimes (5–29%) | In 1 condition |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Sometimes (5–29%) | In 1 condition |
| UFSP2UFM1 specific peptidase 2 | Sometimes (5–29%) | In 1 condition |
| UPB1beta-ureidopropionase 1 | Sometimes (5–29%) | In 1 condition |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Sometimes (5–29%) | In 1 condition |
| YY1YY1 transcription factor | Sometimes (5–29%) | In 1 condition |
| ZBTB20zinc finger and BTB domain containing 20 | Sometimes (5–29%) | In 1 condition |
| ACADSBacyl-CoA dehydrogenase short/branched chain | Rarely (1–4%) | In 1 condition |
| FTCDformimidoyltransferase cyclodeaminase | Rarely (1–4%) | In 1 condition |
| GJA5gap junction protein alpha 5 | Rarely (1–4%) | In 1 condition |
| GJA8gap junction protein alpha 8 | Rarely (1–4%) | In 1 condition |
| TBCKTBC1 domain containing kinase | Rarely (1–4%) | In 1 condition |
| TCF12transcription factor 12 | Rarely (1–4%) | In 1 condition |
| TMEM216transmembrane protein 216 | Rarely (1–4%) | In 1 condition |
| ADSLadenylosuccinate lyase | Not recorded | In 1 condition |
| ALDH5A1aldehyde dehydrogenase 5 family member A1 | Not recorded | In 1 condition |
| CREBBPCREB binding lysine acetyltransferase | Not recorded | In 1 condition |
| EP300EP300 lysine acetyltransferase | Not recorded | In 1 condition |
| FLCNfolliculin | Not recorded | In 1 condition |
| GATMglycine amidinotransferase | Not recorded | In 1 condition |
| IL1RAPL1interleukin 1 receptor accessory protein like 1 | Not recorded | In 1 condition |
| MAOAmonoamine oxidase A | Not recorded | In 1 condition |
| MECP2methyl-CpG binding protein 2 | Not recorded | In 1 condition |
| NLGN4Xneuroligin 4 X-linked | Not recorded | In 1 condition |
| PDE4Dphosphodiesterase 4D | Not recorded | In 1 condition |
| TBR1T-box brain transcription factor 1 | Not recorded | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
Broader traits
Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
One test. A lifetime of answers.
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