Özellik
Absent speech development
Klinik adı: Absent speech
Complete lack of development of speech and language abilities.
Özet
- Diğer adları
- Lack of language development, Lack of speech, No speech development, No speech or language development, Nonverbal
- Vücut sistemi
- Abnormality of the nervous system
Referans genomGRCh38hg38
Gen ve varyant sayfalarındaki konumlar, bu tarayıcıda yaptığınız bu seçimi izler.
Read the genes linked to Absent speech development, and the rest of your genome, with one test.
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Genome Test'imi alAbsent speech development ile ilişkili 482 gen
Bu genlerdeki değişiklikler, Absent speech development özelliğinin görüldüğü nadir durumlara yol açar. Bu özelliğe sahip çoğu kişide bu durumlardan hiçbiri yoktur; ayrıca bu listedeki bir gen, kimsenin kendi genomu hakkında bir şey söylemez.
| Gen | Ne sıklıkla görüldüğü | Durumlar |
|---|---|---|
| ABHD16Aabhydrolase domain containing 16A, phospholipase | Her zaman | 1 durumda |
| ACTL6Bactin like 6B | Her zaman | 2 durumda |
| AFG2AAAA ATPase AFG2A | Her zaman | 2 durumda |
| AIMP1aminoacyl tRNA synthetase complex interacting multifunctional protein 1 | Her zaman | 1 durumda |
| AIMP2aminoacyl tRNA synthetase complex interacting multifunctional protein 2 | Her zaman | 1 durumda |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Her zaman | 2 durumda |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Her zaman | 1 durumda |
| ARFGEF1ARF guanine nucleotide exchange factor 1 | Her zaman | 1 durumda |
| ARID2AT-rich interaction domain 2 | Her zaman | 2 durumda |
| ARL13BARF like GTPase 13B | Her zaman | 1 durumda |
| ASH1LASH1 like histone lysine methyltransferase | Her zaman | 1 durumda |
| ATP6V0CATPase H+ transporting V0 subunit c | Her zaman | 1 durumda |
| ATP9AATPase phospholipid transporting 9A | Her zaman | 1 durumda |
| BORCS8BLOC-1 related complex subunit 8 | Her zaman | 1 durumda |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Her zaman | 1 durumda |
| CACNA2D2calcium voltage-gated channel auxiliary subunit alpha2delta 2 | Her zaman | 1 durumda |
| CAMK2Acalcium/calmodulin dependent protein kinase II alpha | Her zaman | 2 durumda |
| CASKcalcium/calmodulin dependent serine protein kinase | Her zaman | 2 durumda |
| CCDC88Acoiled-coil and HOOK domain protein 88A | Her zaman | 1 durumda |
| CCT3chaperonin containing TCP1 subunit 3 | Her zaman | 1 durumda |
| CHKAcholine kinase alpha | Her zaman | 1 durumda |
| CLCN3Cl-/H+ antiporter 3 | Her zaman | 2 durumda |
| COG4component of oligomeric golgi complex 4 | Her zaman | 2 durumda |
| COG8component of oligomeric golgi complex 8 | Her zaman | 1 durumda |
| COL4A2collagen type IV alpha 2 chain | Her zaman | 1 durumda |
| CPLX1complexin 1 | Her zaman | 1 durumda |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Her zaman | 1 durumda |
| DAG1dystroglycan 1 | Her zaman | 2 durumda |
| DALRD3DALR anticodon binding domain containing 3 | Her zaman | 1 durumda |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Her zaman | 2 durumda |
| DCAF17DDB1 and CUL4 associated factor 17 | Her zaman | 1 durumda |
| DEAF1DEAF1 transcription factor | Her zaman | 2 durumda |
| DNM1dynamin 1 | Her zaman | 1 durumda |
| DOT1LDOT1 like histone lysine methyltransferase | Her zaman | 1 durumda |
| DPH5diphthamide biosynthesis 5 | Her zaman | 1 durumda |
| EBPEBP cholestenol delta-isomerase | Her zaman | 1 durumda |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Her zaman | 2 durumda |
| EIF4A2eukaryotic translation initiation factor 4A2 | Her zaman | 1 durumda |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Her zaman | 1 durumda |
| ELP2elongator acetyltransferase complex subunit 2 | Her zaman | 1 durumda |
442 gen daha göster
| Gen | Ne sıklıkla görüldüğü | Durumlar |
|---|---|---|
| ERLIN2ER lipid raft associated 2 | Her zaman | 3 durumda |
| FKRPfukutin related protein | Her zaman | 1 durumda |
| FKTNfukutin | Her zaman | 1 durumda |
| FOXG1forkhead box G1 | Her zaman | 2 durumda |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Her zaman | 1 durumda |
| FRRS1Lferric chelate reductase 1 like | Her zaman | 1 durumda |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Her zaman | 2 durumda |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Her zaman | 1 durumda |
| GATMglycine amidinotransferase | Her zaman | 1 durumda |
| GET4guided entry of tail-anchored proteins factor 4 | Her zaman | 1 durumda |
| GNAO1G protein subunit alpha o1 | Her zaman | 2 durumda |
| GPT2glutamic--pyruvic transaminase 2 | Her zaman | 1 durumda |
| GRIA1glutamate ionotropic receptor AMPA type subunit 1 | Her zaman | 2 durumda |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Her zaman | 2 durumda |
| GRIN2Bglutamate ionotropic receptor NMDA type subunit 2B | Her zaman | 1 durumda |
| GRM1glutamate metabotropic receptor 1 | Her zaman | 2 durumda |
| GSX2GS homeobox 2 | Her zaman | 1 durumda |
| H4C11H4 clustered histone 11 | Her zaman | 1 durumda |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Her zaman | 1 durumda |
| HID1HID1 domain containing | Her zaman | 1 durumda |
| HIVEP2HIVEP zinc finger 2 | Her zaman | 1 durumda |
| IFT140intraflagellar transport 140 | Her zaman | 1 durumda |
| IKZF2IKAROS family zinc finger 2 | Her zaman | 1 durumda |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Her zaman | 1 durumda |
| INTS1integrator complex subunit 1 | Her zaman | 1 durumda |
| INTS8integrator complex subunit 8 | Her zaman | 1 durumda |
| IREB2iron responsive element binding protein 2 | Her zaman | 1 durumda |
| IRF2BPLinterferon regulatory factor 2 binding protein like | Her zaman | 1 durumda |
| ISCA2iron-sulfur cluster assembly 2 | Her zaman | 1 durumda |
| JKAMPJNK1/MAPK8 associated membrane protein | Her zaman | 1 durumda |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Her zaman | 1 durumda |
| KCNK3potassium two pore domain channel subfamily K member 3 | Her zaman | 1 durumda |
| KCTD7potassium channel tetramerization domain containing 7 | Her zaman | 1 durumda |
| KDM2Blysine demethylase 2B | Her zaman | 1 durumda |
| KIF5Ckinesin family member 5C | Her zaman | 1 durumda |
| KLHL15kelch like family member 15 | Her zaman | 1 durumda |
| KLHL20kelch like family member 20 | Her zaman | 1 durumda |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Her zaman | 1 durumda |
| LGI1leucine rich glioma inactivated 1 | Her zaman | 1 durumda |
| LINS1lines homolog 1 | Her zaman | 1 durumda |
| LIPT2lipoyl(octanoyl) transferase 2 | Her zaman | 1 durumda |
| MAB21L1mab-21 like 1 | Her zaman | 1 durumda |
| MCCC1methylcrotonyl-CoA carboxylase subunit 1 | Her zaman | 1 durumda |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Her zaman | 1 durumda |
| MDH2malate dehydrogenase 2 | Her zaman | 1 durumda |
| MECP2methyl-CpG binding protein 2 | Her zaman | 3 durumda |
| MED16mediator complex subunit 16 | Her zaman | 1 durumda |
| MED23mediator complex subunit 23 | Her zaman | 1 durumda |
| MEF2Cmyocyte enhancer factor 2C | Her zaman | 1 durumda |
| MFSD2AMFSD2 lysolipid transporter A, lysophospholipid | Her zaman | 1 durumda |
| MINPP1multiple inositol-polyphosphate phosphatase 1 | Her zaman | 1 durumda |
| MKS1MKS transition zone complex subunit 1 | Her zaman | 1 durumda |
| MMADHCmetabolism of cobalamin associated D | Her zaman | 1 durumda |
| MRPL12mitochondrial ribosomal protein L12 | Her zaman | 1 durumda |
| NALCNsodium leak channel, non-selective | Her zaman | 1 durumda |
| NCAPD2non-SMC condensin I complex subunit D2 | Her zaman | 1 durumda |
| NEXMIFneurite extension and migration factor | Her zaman | 2 durumda |
| NSD1nuclear receptor binding SET domain protein 1 | Her zaman | 1 durumda |
| NSUN2NOP2/Sun RNA methyltransferase 2 | Her zaman | 1 durumda |
| OFD1OFD1 centriole and centriolar satellite protein | Her zaman | 1 durumda |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Her zaman | 1 durumda |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Her zaman | 1 durumda |
| PI4K2Aphosphatidylinositol 4-kinase type 2 alpha | Her zaman | 1 durumda |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Her zaman | 2 durumda |
| PIGSphosphatidylinositol glycan anchor biosynthesis class S | Her zaman | 1 durumda |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Her zaman | 1 durumda |
| PLAAphospholipase A2 activating protein | Her zaman | 1 durumda |
| PMPCBpeptidase, mitochondrial processing subunit beta | Her zaman | 1 durumda |
| POMT1protein O-mannosyltransferase 1 | Her zaman | 2 durumda |
| POMT2protein O-mannosyltransferase 2 | Her zaman | 1 durumda |
| POT1protection of telomeres 1 | Her zaman | 1 durumda |
| PRUNE1prune exopolyphosphatase 1 | Her zaman | 2 durumda |
| PSMB1proteasome 20S subunit beta 1 | Her zaman | 1 durumda |
| PSMC1proteasome 26S subunit, ATPase 1 | Her zaman | 1 durumda |
| PURApurine rich element binding protein A | Her zaman | 1 durumda |
| RAB11BRAB11B, member RAS oncogene family | Her zaman | 1 durumda |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Her zaman | 1 durumda |
| RAB5IFRAB5 interacting factor | Her zaman | 1 durumda |
| RALGAPA1Ral GTPase activating protein catalytic subunit alpha 1 | Her zaman | 1 durumda |
| RBSNrabenosyn, RAB effector | Her zaman | 1 durumda |
| SATB1SATB homeobox 1 | Her zaman | 1 durumda |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Her zaman | 2 durumda |
| SHQ1SHQ1, H/ACA ribonucleoprotein assembly factor | Her zaman | 1 durumda |
| SIK1salt inducible kinase 1 | Her zaman | 1 durumda |
| SLC12A2solute carrier family 12 member 2 | Her zaman | 2 durumda |
| SLC13A5solute carrier family 13 member 5 | Her zaman | 1 durumda |
| SLC1A4solute carrier family 1 member 4 | Her zaman | 1 durumda |
| SLC25A12solute carrier family 25 member 12 | Her zaman | 1 durumda |
| SLC33A1solute carrier family 33 member 1 | Her zaman | 1 durumda |
| SLC35A2solute carrier family 35 member A2 | Her zaman | 1 durumda |
| SLC38A3solute carrier family 38 member 3 | Her zaman | 1 durumda |
| SLC9A6solute carrier family 9 member A6 | Her zaman | 2 durumda |
| SMC1Astructural maintenance of chromosomes 1A | Her zaman | 2 durumda |
| SOD1superoxide dismutase 1 | Her zaman | 1 durumda |
| SPTBN4spectrin beta, non-erythrocytic 4 | Her zaman | 1 durumda |
| STILSTIL centriolar assembly protein | Her zaman | 5 durumda |
| SUOXsulfite oxidase | Her zaman | 1 durumda |
| SUPT7LSPT7 like, STAGA complex subunit gamma | Her zaman | 1 durumda |
| TANGO2transport and golgi organization 2 homolog | Her zaman | 1 durumda |
| TFE3transcription factor binding to IGHM enhancer 3 | Her zaman | 1 durumda |
| TM2D3TM2 domain containing 3 | Her zaman | 1 durumda |
| TMEM231transmembrane protein 231 | Her zaman | 1 durumda |
| TRAPPC2Ltrafficking protein particle complex subunit 2L | Her zaman | 1 durumda |
| TREX1three prime repair exonuclease 1 | Her zaman | 1 durumda |
| UBE3Aubiquitin protein ligase E3A | Her zaman | 3 durumda |
| UBE3Bubiquitin protein ligase E3B | Her zaman | 1 durumda |
| UBTFupstream binding transcription factor | Her zaman | 2 durumda |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Her zaman | 1 durumda |
| UGP2UDP-glucose pyrophosphorylase 2 | Her zaman | 1 durumda |
| UNC13Aunc-13 homolog A | Her zaman | 2 durumda |
| UNC80unc-80 subunit of NALCN channel complex | Her zaman | 1 durumda |
| VARS1valyl-tRNA synthetase 1 | Her zaman | 1 durumda |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Her zaman | 2 durumda |
| WARS1tryptophanyl-tRNA synthetase 1 | Her zaman | 1 durumda |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Her zaman | 3 durumda |
| WDR37WD repeat domain 37 | Her zaman | 1 durumda |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Her zaman | 1 durumda |
| WSB2WD repeat and SOCS box containing 2 | Her zaman | 1 durumda |
| ADSLadenylosuccinate lyase | Çok sık (%80–99) | 1 durumda |
| ASPAaspartoacylase | Çok sık (%80–99) | 1 durumda |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Çok sık (%80–99) | 1 durumda |
| CASZ1castor zinc finger 1 | Çok sık (%80–99) | 1 durumda |
| CUL4Bcullin 4B | Çok sık (%80–99) | 2 durumda |
| DHX30DExH-box helicase 30 | Çok sık (%80–99) | 1 durumda |
| DOHHdeoxyhypusine hydroxylase | Çok sık (%80–99) | 1 durumda |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Çok sık (%80–99) | 1 durumda |
| GTPBP2GTP binding protein 2 | Çok sık (%80–99) | 1 durumda |
| HSPG2heparan sulfate proteoglycan 2 | Çok sık (%80–99) | 1 durumda |
| KARS1lysyl-tRNA synthetase 1 | Çok sık (%80–99) | 2 durumda |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Çok sık (%80–99) | 1 durumda |
| KDM5Alysine demethylase 5A | Çok sık (%80–99) | 1 durumda |
| LUZP1leucine zipper protein 1 | Çok sık (%80–99) | 1 durumda |
| MAST1microtubule associated serine/threonine kinase 1 | Çok sık (%80–99) | 1 durumda |
| MCOLN1mucolipin TRP cation channel 1 | Çok sık (%80–99) | 2 durumda |
| MMP23Bmatrix metallopeptidase 23B | Çok sık (%80–99) | 1 durumda |
| PDPNpodoplanin | Çok sık (%80–99) | 1 durumda |
| PPFIBP1PPFIB scaffold protein 1 | Çok sık (%80–99) | 1 durumda |
| PPIL1peptidylprolyl isomerase like 1 | Çok sık (%80–99) | 1 durumda |
| PPP2R1Aprotein phosphatase 2 scaffold subunit Aalpha | Çok sık (%80–99) | 2 durumda |
| PRDM16PR/SET domain 16 | Çok sık (%80–99) | 1 durumda |
| PRKCZprotein kinase C zeta | Çok sık (%80–99) | 1 durumda |
| PYCR2pyrroline-5-carboxylate reductase 2 | Çok sık (%80–99) | 2 durumda |
| REREarginine-glutamic acid dipeptide repeats | Çok sık (%80–99) | 1 durumda |
| RNU2-2RNA, U2 small nuclear 2 | Çok sık (%80–99) | 1 durumda |
| RNU4-2RNA, U4 small nuclear 2 | Çok sık (%80–99) | 1 durumda |
| SATB2SATB homeobox 2 | Çok sık (%80–99) | 2 durumda |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Çok sık (%80–99) | 1 durumda |
| SKISKI proto-oncogene | Çok sık (%80–99) | 1 durumda |
| SPENspen family transcriptional repressor | Çok sık (%80–99) | 2 durumda |
| SYT1synaptotagmin 1 | Çok sık (%80–99) | 2 durumda |
| TCF4transcription factor 4 | Çok sık (%80–99) | 2 durumda |
| TRIM8tripartite motif containing 8 | Çok sık (%80–99) | 1 durumda |
| TUBA8tubulin alpha 8 | Çok sık (%80–99) | 1 durumda |
| UBA5ubiquitin like modifier activating enzyme 5 | Çok sık (%80–99) | 1 durumda |
| UBE4Bubiquitination factor E4B | Çok sık (%80–99) | 1 durumda |
| ZEB2zinc finger E-box binding homeobox 2 | Çok sık (%80–99) | 3 durumda |
| ZSWIM6zinc finger SWIM-type containing 6 | Çok sık (%80–99) | 1 durumda |
| ADARB1adenosine deaminase RNA specific B1 | Sık (%30–79) | 1 durumda |
| AGTPBP1ATP/GTP binding carboxypeptidase 1 | Sık (%30–79) | 1 durumda |
| AHDC1AT-hook DNA binding motif containing 1 | Sık (%30–79) | 1 durumda |
| AMPD2adenosine monophosphate deaminase 2 | Sık (%30–79) | 1 durumda |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Sık (%30–79) | 1 durumda |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Sık (%30–79) | 1 durumda |
| ASXL3ASXL transcriptional regulator 3 | Sık (%30–79) | 2 durumda |
| ATN1atrophin 1 | Sık (%30–79) | 1 durumda |
| ATP5F1AATP synthase F1 subunit alpha | Sık (%30–79) | 1 durumda |
| ATP6V1AATPase H+ transporting V1 subunit A | Sık (%30–79) | 1 durumda |
| BAIAP2BAR/IMD domain containing adaptor protein 2 | Sık (%30–79) | 1 durumda |
| CACNA1Icalcium voltage-gated channel subunit alpha1 I | Sık (%30–79) | 1 durumda |
| CAMK2Bcalcium/calmodulin dependent protein kinase II beta | Sık (%30–79) | 1 durumda |
| CDONcell adhesion associated, oncogene regulated | Sık (%30–79) | 4 durumda |
| CHAMP1chromosome alignment maintaining phosphoprotein 1 | Sık (%30–79) | 1 durumda |
| CLIC2CLIC family member 2 | Sık (%30–79) | 1 durumda |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Sık (%30–79) | 1 durumda |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Sık (%30–79) | 1 durumda |
| CNNM2cyclin and CBS domain divalent metal cation transport mediator 2 | Sık (%30–79) | 1 durumda |
| COG3component of oligomeric golgi complex 3 | Sık (%30–79) | 1 durumda |
| COPB1coat protein complex I subunit beta 1 | Sık (%30–79) | 1 durumda |
| CPAPcentrosome assembly and centriole elongation protein | Sık (%30–79) | 1 durumda |
| CRIPTOcripto, EGF-CFC family member | Sık (%30–79) | 4 durumda |
| CTNNA2catenin alpha 2 | Sık (%30–79) | 1 durumda |
| DCPSdecapping enzyme, scavenger | Sık (%30–79) | 1 durumda |
| DEGS1delta 4-desaturase, sphingolipid 1 | Sık (%30–79) | 1 durumda |
| DENND5ADENN domain containing 5A | Sık (%30–79) | 1 durumda |
| DISP1dispatched RND transporter family member 1 | Sık (%30–79) | 4 durumda |
| DLL1delta like canonical Notch ligand 1 | Sık (%30–79) | 4 durumda |
| DNM1Ldynamin 1L | Sık (%30–79) | 1 durumda |
| DOCK3dedicator of cytokinesis 3 | Sık (%30–79) | 1 durumda |
| DOCK7dedicator of cytokinesis 7 | Sık (%30–79) | 1 durumda |
| DPM2dolichyl-phosphate mannosyltransferase subunit 2, regulatory | Sık (%30–79) | 1 durumda |
| DPYSL5dihydropyrimidinase like 5 | Sık (%30–79) | 1 durumda |
| DYMdymeclin | Sık (%30–79) | 1 durumda |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Sık (%30–79) | 2 durumda |
| EARS2glutamyl-tRNA synthetase 2, mitochondrial | Sık (%30–79) | 1 durumda |
| EIF2AK2eukaryotic translation initiation factor 2 alpha kinase 2 | Sık (%30–79) | 1 durumda |
| EXOSC5exosome component 5 | Sık (%30–79) | 1 durumda |
| FGF12fibroblast growth factor 12 | Sık (%30–79) | 1 durumda |
| FGF13fibroblast growth factor 13 | Sık (%30–79) | 1 durumda |
| FGF8fibroblast growth factor 8 | Sık (%30–79) | 4 durumda |
| FGFR1fibroblast growth factor receptor 1 | Sık (%30–79) | 2 durumda |
| FOXH1forkhead box H1 | Sık (%30–79) | 4 durumda |
| FRA10AC1FRA10A associated CGG repeat 1 | Sık (%30–79) | 1 durumda |
| FRMD4AFERM domain containing 4A | Sık (%30–79) | 2 durumda |
| FRMPD4FERM and PDZ domain containing 4 | Sık (%30–79) | 1 durumda |
| GAMTguanidinoacetate N-methyltransferase | Sık (%30–79) | 1 durumda |
| GAS1growth arrest specific 1 | Sık (%30–79) | 4 durumda |
| GCDHglutaryl-CoA dehydrogenase | Sık (%30–79) | 1 durumda |
| GEMIN4gem nuclear organelle associated protein 4 | Sık (%30–79) | 1 durumda |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Sık (%30–79) | 1 durumda |
| GLI2GLI family zinc finger 2 | Sık (%30–79) | 4 durumda |
| GNAI1G protein subunit alpha i1 | Sık (%30–79) | 1 durumda |
| GNB5G protein subunit beta 5 | Sık (%30–79) | 2 durumda |
| GOT2glutamic-oxaloacetic transaminase 2 | Sık (%30–79) | 1 durumda |
| GRIA2glutamate ionotropic receptor AMPA type subunit 2 | Sık (%30–79) | 1 durumda |
| GRIA4glutamate ionotropic receptor AMPA type subunit 4 | Sık (%30–79) | 1 durumda |
| HDAC4histone deacetylase 4 | Sık (%30–79) | 1 durumda |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Sık (%30–79) | 2 durumda |
| HNRNPH1heterogeneous nuclear ribonucleoprotein H1 | Sık (%30–79) | 1 durumda |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Sık (%30–79) | 1 durumda |
| IARS1isoleucyl-tRNA synthetase 1 | Sık (%30–79) | 2 durumda |
| IQSEC1IQ motif and Sec7 domain ArfGEF 1 | Sık (%30–79) | 1 durumda |
| KAT6Alysine acetyltransferase 6A | Sık (%30–79) | 1 durumda |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Sık (%30–79) | 1 durumda |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Sık (%30–79) | 1 durumda |
| KCNQ5potassium voltage-gated channel subfamily Q member 5 | Sık (%30–79) | 1 durumda |
| KICS2KICSTOR subunit 2 | Sık (%30–79) | 1 durumda |
| KIF15kinesin family member 15 | Sık (%30–79) | 1 durumda |
| LINGO1leucine rich repeat and Ig domain containing 1 | Sık (%30–79) | 1 durumda |
| LNPKlunapark, ER junction formation factor | Sık (%30–79) | 1 durumda |
| MACF1microtubule actin crosslinking factor 1 | Sık (%30–79) | 1 durumda |
| MBOAT7membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7 | Sık (%30–79) | 1 durumda |
| MED12mediator complex subunit 12 | Sık (%30–79) | 1 durumda |
| MED25mediator complex subunit 25 | Sık (%30–79) | 1 durumda |
| MFFmitochondrial fission factor | Sık (%30–79) | 1 durumda |
| MRPS34mitochondrial ribosomal protein S34 | Sık (%30–79) | 1 durumda |
| MSL3MSL complex subunit 3 | Sık (%30–79) | 1 durumda |
| NAV3neuron navigator 3 | Sık (%30–79) | 1 durumda |
| NCAPG2non-SMC condensin II complex subunit G2 | Sık (%30–79) | 1 durumda |
| NFIXnuclear factor I X | Sık (%30–79) | 1 durumda |
| NGLY1N-glycanase 1 | Sık (%30–79) | 1 durumda |
| NODALnodal growth differentiation factor | Sık (%30–79) | 4 durumda |
| NSRP1nuclear speckle splicing regulatory protein 1 | Sık (%30–79) | 1 durumda |
| NTNG2netrin G2 | Sık (%30–79) | 1 durumda |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Sık (%30–79) | 1 durumda |
| OTUD6BOTU deubiquitinase 6B | Sık (%30–79) | 1 durumda |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Sık (%30–79) | 1 durumda |
| PGAP2post-GPI attachment to proteins 2 | Sık (%30–79) | 1 durumda |
| PIGFphosphatidylinositol glycan anchor biosynthesis class F | Sık (%30–79) | 1 durumda |
| PLCH1phospholipase C eta 1 | Sık (%30–79) | 1 durumda |
| PLK4polo like kinase 4 | Sık (%30–79) | 1 durumda |
| PLP1proteolipid protein 1 | Sık (%30–79) | 1 durumda |
| POLR1ARNA polymerase I subunit A | Sık (%30–79) | 1 durumda |
| POLR3KRNA polymerase III subunit K | Sık (%30–79) | 1 durumda |
| PPFIA3PPFI scaffold protein A3 | Sık (%30–79) | 1 durumda |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Sık (%30–79) | 2 durumda |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Sık (%30–79) | 1 durumda |
| PTCH1patched 1 | Sık (%30–79) | 4 durumda |
| RAC1Rac family small GTPase 1 | Sık (%30–79) | 2 durumda |
| RALARAS like proto-oncogene A | Sık (%30–79) | 1 durumda |
| RHOBTB2Rho related BTB domain containing 2 | Sık (%30–79) | 1 durumda |
| RNU5B-1RNA, U5B small nuclear 1 | Sık (%30–79) | 1 durumda |
| RPL10ribosomal protein L10 | Sık (%30–79) | 1 durumda |
| SETBP1SET binding protein 1 | Sık (%30–79) | 1 durumda |
| SHHsonic hedgehog signaling molecule | Sık (%30–79) | 4 durumda |
| SIX3SIX homeobox 3 | Sık (%30–79) | 4 durumda |
| SLC12A6solute carrier family 12 member 6 | Sık (%30–79) | 1 durumda |
| SLC35B2solute carrier family 35 member B2 | Sık (%30–79) | 1 durumda |
| SLC4A10solute carrier family 4 member 10 | Sık (%30–79) | 1 durumda |
| SLC6A1solute carrier family 6 member 1 | Sık (%30–79) | 1 durumda |
| SLC6A11solute carrier family 6 member 11 | Sık (%30–79) | 1 durumda |
| SLC6A17solute carrier family 6 member 17 | Sık (%30–79) | 1 durumda |
| SLC6A3solute carrier family 6 member 3 | Sık (%30–79) | 1 durumda |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Sık (%30–79) | 2 durumda |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Sık (%30–79) | 2 durumda |
| SNX14sorting nexin 14 | Sık (%30–79) | 2 durumda |
| SPTSSAserine palmitoyltransferase small subunit A | Sık (%30–79) | 1 durumda |
| STAG2STAG2 cohesin complex component | Sık (%30–79) | 2 durumda |
| STXBP1syntaxin binding protein 1 | Sık (%30–79) | 2 durumda |
| SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit | Sık (%30–79) | 1 durumda |
| SZT2SZT2 subunit of KICSTOR complex | Sık (%30–79) | 1 durumda |
| TAF2TATA-box binding protein associated factor 2 | Sık (%30–79) | 1 durumda |
| TBC1D20TBC1 domain family member 20 | Sık (%30–79) | 1 durumda |
| TBCDtubulin folding cofactor D | Sık (%30–79) | 2 durumda |
| TBCEtubulin folding cofactor E | Sık (%30–79) | 1 durumda |
| TBCKTBC1 domain containing kinase | Sık (%30–79) | 1 durumda |
| TELO2telomere maintenance 2 | Sık (%30–79) | 2 durumda |
| TGIF1TGFB induced factor homeobox 1 | Sık (%30–79) | 4 durumda |
| TKTtransketolase | Sık (%30–79) | 2 durumda |
| TMEM147transmembrane protein 147 | Sık (%30–79) | 1 durumda |
| TOR1Atorsin family 1 member A | Sık (%30–79) | 1 durumda |
| TRAPPC10trafficking protein particle complex subunit 10 | Sık (%30–79) | 1 durumda |
| TRAPPC11trafficking protein particle complex subunit 11 | Sık (%30–79) | 1 durumda |
| TRAPPC6Btrafficking protein particle complex subunit 6B | Sık (%30–79) | 1 durumda |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Sık (%30–79) | 1 durumda |
| TTC5tetratricopeptide repeat domain 5 | Sık (%30–79) | 1 durumda |
| TUBB2Atubulin beta 2A class IIa | Sık (%30–79) | 1 durumda |
| UBE2Aubiquitin conjugating enzyme E2 A | Sık (%30–79) | 1 durumda |
| UFSP2UFM1 specific peptidase 2 | Sık (%30–79) | 1 durumda |
| VPS11VPS11 core subunit of CORVET and HOPS complexes | Sık (%30–79) | 2 durumda |
| VPS41VPS41 subunit of HOPS complex | Sık (%30–79) | 1 durumda |
| VPS4Avacuolar protein sorting 4 homolog A | Sık (%30–79) | 1 durumda |
| WBP4WW domain binding protein 4 | Sık (%30–79) | 1 durumda |
| WDR45WD repeat domain 45 | Sık (%30–79) | 1 durumda |
| ZIC2Zic family zinc finger 2 | Sık (%30–79) | 4 durumda |
| ACBD6acyl-CoA binding domain containing 6 | Bazen (%5–29) | 1 durumda |
| ADNPactivity dependent neuroprotector homeobox | Bazen (%5–29) | 1 durumda |
| ARID1AAT-rich interaction domain 1A | Bazen (%5–29) | 1 durumda |
| ARID1BAT-rich interaction domain 1B | Bazen (%5–29) | 1 durumda |
| ATG7autophagy related 7 | Bazen (%5–29) | 1 durumda |
| ATP10AATPase phospholipid transporting 10A (putative) | Bazen (%5–29) | 1 durumda |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Bazen (%5–29) | 1 durumda |
| BCAS3BCAS3 microtubule associated cell migration factor | Bazen (%5–29) | 1 durumda |
| CARS2cysteinyl-tRNA synthetase 2, mitochondrial | Bazen (%5–29) | 1 durumda |
| CDC42cell division cycle 42 | Bazen (%5–29) | 2 durumda |
| CLPBClpB family mitochondrial disaggregase | Bazen (%5–29) | 1 durumda |
| CLTCclathrin heavy chain | Bazen (%5–29) | 1 durumda |
| CNTNAP2contactin associated protein 2 | Bazen (%5–29) | 2 durumda |
| CRBNcereblon | Bazen (%5–29) | 1 durumda |
| CREBBPCREB binding lysine acetyltransferase | Bazen (%5–29) | 2 durumda |
| CSNK2A1casein kinase 2 alpha 1 | Bazen (%5–29) | 1 durumda |
| CSPP1centrosome and spindle pole associated protein 1 | Bazen (%5–29) | 1 durumda |
| DOLKdolichol kinase | Bazen (%5–29) | 1 durumda |
| DPF2double PHD fingers 2 | Bazen (%5–29) | 1 durumda |
| DPYDdihydropyrimidine dehydrogenase | Bazen (%5–29) | 1 durumda |
| EHMT1euchromatic histone lysine methyltransferase 1 | Bazen (%5–29) | 1 durumda |
| EIF3Feukaryotic translation initiation factor 3 subunit F | Bazen (%5–29) | 1 durumda |
| EP300EP300 lysine acetyltransferase | Bazen (%5–29) | 1 durumda |
| EXTL3exostosin like glycosyltransferase 3 | Bazen (%5–29) | 1 durumda |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Bazen (%5–29) | 1 durumda |
| FTH1ferritin heavy chain 1 | Bazen (%5–29) | 1 durumda |
| GMPPBGDP-mannose pyrophosphorylase B | Bazen (%5–29) | 1 durumda |
| GRIK2glutamate ionotropic receptor kainate type subunit 2 | Bazen (%5–29) | 1 durumda |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Bazen (%5–29) | 1 durumda |
| HEPACAMhepatic and glial cell adhesion molecule | Bazen (%5–29) | 1 durumda |
| HIKESHIheat shock protein nuclear import factor hikeshi | Bazen (%5–29) | 1 durumda |
| HNRNPCheterogeneous nuclear ribonucleoprotein C | Bazen (%5–29) | 1 durumda |
| HNRNPH2heterogeneous nuclear ribonucleoprotein H2 | Bazen (%5–29) | 1 durumda |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Bazen (%5–29) | 1 durumda |
| IQSEC2IQ motif and Sec7 domain ArfGEF 2 | Bazen (%5–29) | 1 durumda |
| KCNJ10potassium inwardly rectifying channel subfamily J member 10 | Bazen (%5–29) | 1 durumda |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Bazen (%5–29) | 1 durumda |
| KIAA0586KIAA0586 | Bazen (%5–29) | 1 durumda |
| KIF1Akinesin family member 1A | Bazen (%5–29) | 1 durumda |
| KMT5Blysine methyltransferase 5B | Bazen (%5–29) | 1 durumda |
| LAS1LLAS1 like ribosome biogenesis factor | Bazen (%5–29) | 1 durumda |
| LMAN2Llectin, mannose binding 2 like | Bazen (%5–29) | 1 durumda |
| LMNB1lamin B1 | Bazen (%5–29) | 1 durumda |
| NDC1NDC1 transmembrane nucleoporin | Bazen (%5–29) | 1 durumda |
| NOTCH3notch receptor 3 | Bazen (%5–29) | 1 durumda |
| NR2F1nuclear receptor subfamily 2 group F member 1 | Bazen (%5–29) | 1 durumda |
| OCA2OCA2 melanosomal transmembrane protein | Bazen (%5–29) | 1 durumda |
| ODC1ornithine decarboxylase 1 | Bazen (%5–29) | 1 durumda |
| OPHN1oligophrenin 1 | Bazen (%5–29) | 1 durumda |
| PACS1phosphofurin acidic cluster sorting protein 1 | Bazen (%5–29) | 2 durumda |
| PCGF2polycomb group ring finger 2 | Bazen (%5–29) | 1 durumda |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Bazen (%5–29) | 2 durumda |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Bazen (%5–29) | 2 durumda |
| POGZpogo transposable element derived with ZNF domain | Bazen (%5–29) | 1 durumda |
| POLRMTRNA polymerase mitochondrial | Bazen (%5–29) | 1 durumda |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Bazen (%5–29) | 1 durumda |
| PUS3pseudouridine synthase 3 | Bazen (%5–29) | 1 durumda |
| RAB18RAB18, member RAS oncogene family | Bazen (%5–29) | 1 durumda |
| RNU7-1RNA, U7 small nuclear 1 | Bazen (%5–29) | 1 durumda |
| SERAC1serine active site containing 1 | Bazen (%5–29) | 2 durumda |
| SHROOM4shroom family member 4 | Bazen (%5–29) | 1 durumda |
| SLC39A14solute carrier family 39 member 14 | Bazen (%5–29) | 1 durumda |
| SLITRK2SLIT and NTRK like family member 2 | Bazen (%5–29) | 1 durumda |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Bazen (%5–29) | 1 durumda |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Bazen (%5–29) | 1 durumda |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Bazen (%5–29) | 2 durumda |
| SMSspermine synthase | Bazen (%5–29) | 1 durumda |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Bazen (%5–29) | 2 durumda |
| SOX11SRY-box transcription factor 11 | Bazen (%5–29) | 1 durumda |
| SOX4SRY-box transcription factor 4 | Bazen (%5–29) | 1 durumda |
| SPTBN1spectrin beta, non-erythrocytic 1 | Bazen (%5–29) | 1 durumda |
| SRCAPSnf2 related CREBBP activator protein | Bazen (%5–29) | 1 durumda |
| SRPK3SRSF protein kinase 3 | Bazen (%5–29) | 1 durumda |
| STRADASTE20 related adaptor alpha | Bazen (%5–29) | 2 durumda |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Bazen (%5–29) | 1 durumda |
| TBL1XR1TBL1X/Y related 1 | Bazen (%5–29) | 1 durumda |
| TIMM50translocase of inner mitochondrial membrane 50 | Bazen (%5–29) | 2 durumda |
| TMCO1transmembrane and coiled-coil domains 1 | Bazen (%5–29) | 1 durumda |
| TMEM106Btransmembrane protein 106B | Bazen (%5–29) | 1 durumda |
| TMTC3transmembrane O-mannosyltransferase targeting cadherins 3 | Bazen (%5–29) | 1 durumda |
| TNPO2transportin 2 | Bazen (%5–29) | 1 durumda |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Bazen (%5–29) | 1 durumda |
| TRIOtrio Rho guanine nucleotide exchange factor | Bazen (%5–29) | 1 durumda |
| TRPV6transient receptor potential cation channel subfamily V member 6 | Bazen (%5–29) | 1 durumda |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Bazen (%5–29) | 1 durumda |
| USP7ubiquitin specific peptidase 7 | Bazen (%5–29) | 2 durumda |
| WACWW domain containing adaptor with coiled-coil | Bazen (%5–29) | 1 durumda |
| WDR26WD repeat domain 26 | Bazen (%5–29) | 2 durumda |
| WDR83OSWD repeat domain 83 opposite strand | Bazen (%5–29) | 1 durumda |
| YME1L1YME1 like 1 ATPase | Bazen (%5–29) | 1 durumda |
| YY1YY1 transcription factor | Bazen (%5–29) | 1 durumda |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Seyrek (%1–4) | 1 durumda |
| ACOX1acyl-CoA oxidase 1 | Kaydedilmedi | 1 durumda |
| ALG11ALG11 alpha-1,2-mannosyltransferase | Kaydedilmedi | 1 durumda |
| BCL11BBCL11 transcription factor B | Kaydedilmedi | 1 durumda |
| BLTP1bridge-like lipid transfer protein family member 1 | Kaydedilmedi | 1 durumda |
| BMP4bone morphogenetic protein 4 | Kaydedilmedi | 1 durumda |
| BRAT1BRCA1 associated ATM activator 1 | Kaydedilmedi | 1 durumda |
| C2CD3C2 domain containing 3 centriole elongation regulator | Kaydedilmedi | 1 durumda |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Kaydedilmedi | 1 durumda |
| CCDC47coiled-coil domain containing 47 | Kaydedilmedi | 1 durumda |
| CCND2cyclin D2 | Kaydedilmedi | 1 durumda |
| CHMP1Acharged multivesicular body protein 1A | Kaydedilmedi | 1 durumda |
| CLCN4Cl-/H+ antiporter 4 | Kaydedilmedi | 1 durumda |
| EXOSC3exosome component 3 | Kaydedilmedi | 1 durumda |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Kaydedilmedi | 1 durumda |
| GNSglucosamine (N-acetyl)-6-sulfatase | Kaydedilmedi | 1 durumda |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Kaydedilmedi | 1 durumda |
| HNRNPUheterogeneous nuclear ribonucleoprotein U | Kaydedilmedi | 1 durumda |
| HTThuntingtin | Kaydedilmedi | 1 durumda |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Kaydedilmedi | 1 durumda |
| IFIH1interferon induced with helicase C domain 1 | Kaydedilmedi | 1 durumda |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Kaydedilmedi | 1 durumda |
| MAGEL2MAGE family member L2 | Kaydedilmedi | 1 durumda |
| MPDU1mannose-P-dolichol utilization defect 1 | Kaydedilmedi | 1 durumda |
| NACC1nucleus accumbens associated 1 | Kaydedilmedi | 1 durumda |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Kaydedilmedi | 1 durumda |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Kaydedilmedi | 1 durumda |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Kaydedilmedi | 1 durumda |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Kaydedilmedi | 1 durumda |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Kaydedilmedi | 1 durumda |
| RARS2arginyl-tRNA synthetase 2, mitochondrial | Kaydedilmedi | 1 durumda |
| RMND1required for meiotic nuclear division 1 homolog | Kaydedilmedi | 1 durumda |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Kaydedilmedi | 1 durumda |
| SLC1A2solute carrier family 1 member 2 | Kaydedilmedi | 1 durumda |
| SLC2A1solute carrier family 2 member 1 | Kaydedilmedi | 1 durumda |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Kaydedilmedi | 1 durumda |
| ST3GAL5ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | Kaydedilmedi | 1 durumda |
| TCTN2tectonic family member 2 | Kaydedilmedi | 1 durumda |
| TOE1target of EGR1, exonuclease | Kaydedilmedi | 1 durumda |
| TRIT1tRNA isopentenyltransferase 1 | Kaydedilmedi | 1 durumda |
| TRRAPtransformation/transcription domain associated protein | Kaydedilmedi | 1 durumda |
| UFM1ubiquitin fold modifier 1 | Kaydedilmedi | 1 durumda |
| UQCRQubiquinol-cytochrome c reductase complex III subunit VII | Kaydedilmedi | 1 durumda |
| USP27Xubiquitin specific peptidase 27 X-linked | Kaydedilmedi | 1 durumda |
| WDR45BWD repeat domain 45B | Kaydedilmedi | 1 durumda |
| ZBTB18zinc finger and BTB domain containing 18 | Kaydedilmedi | 1 durumda |
| ZC4H2zinc finger C4H2-type containing | Kaydedilmedi | 1 durumda |
Bu özelliğin, genin ilişkili olduğu durumlardan birine sahip kişiler arasında ne sıklıkta görüldüğü; Human Phenotype Ontology'nin kaydettiği şekliyle, bunlar arasında en sık görülen oran. Bu sayfalar özellikleri ve bunların arkasındaki araştırmaları anlatır; tanı koymaz. Belirtiler hakkında bir doktora veya genetik danışmana başvurmanız gerekir.
Daha geniş özellikler
Bilgilerin kaynağı
- Human Phenotype Ontology, 2026-09-01 sürümü: özellik, adları, tanımı ve buna bağlı genler. Ayrıntılar için hpo.jax.org adresine bakın.
- Veri sürümü 2026.10.16-c6eea6bf.
Tek bir test. Ömür boyu yanıtlar.
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