Požymis
Absent speech development
Klinikinis pavadinimas: Absent speech
Complete lack of development of speech and language abilities.
Santrauka
- Taip pat vadinama
- Lack of language development, Lack of speech, No speech development, No speech or language development, Nonverbal
- Kūno sistema
- Abnormality of the nervous system
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
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Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Absent speech development. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| ABHD16Aabhydrolase domain containing 16A, phospholipase | Visada | 1 ligoje |
| ACTL6Bactin like 6B | Visada | 2 ligose |
| AFG2AAAA ATPase AFG2A | Visada | 2 ligose |
| AIMP1aminoacyl tRNA synthetase complex interacting multifunctional protein 1 | Visada | 1 ligoje |
| AIMP2aminoacyl tRNA synthetase complex interacting multifunctional protein 2 | Visada | 1 ligoje |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Visada | 2 ligose |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Visada | 1 ligoje |
| ARFGEF1ARF guanine nucleotide exchange factor 1 | Visada | 1 ligoje |
| ARID2AT-rich interaction domain 2 | Visada | 2 ligose |
| ARL13BARF like GTPase 13B | Visada | 1 ligoje |
| ASH1LASH1 like histone lysine methyltransferase | Visada | 1 ligoje |
| ATP6V0CATPase H+ transporting V0 subunit c | Visada | 1 ligoje |
| ATP9AATPase phospholipid transporting 9A | Visada | 1 ligoje |
| BORCS8BLOC-1 related complex subunit 8 | Visada | 1 ligoje |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Visada | 1 ligoje |
| CACNA2D2calcium voltage-gated channel auxiliary subunit alpha2delta 2 | Visada | 1 ligoje |
| CAMK2Acalcium/calmodulin dependent protein kinase II alpha | Visada | 2 ligose |
| CASKcalcium/calmodulin dependent serine protein kinase | Visada | 2 ligose |
| CCDC88Acoiled-coil and HOOK domain protein 88A | Visada | 1 ligoje |
| CCT3chaperonin containing TCP1 subunit 3 | Visada | 1 ligoje |
| CHKAcholine kinase alpha | Visada | 1 ligoje |
| CLCN3Cl-/H+ antiporter 3 | Visada | 2 ligose |
| COG4component of oligomeric golgi complex 4 | Visada | 2 ligose |
| COG8component of oligomeric golgi complex 8 | Visada | 1 ligoje |
| COL4A2collagen type IV alpha 2 chain | Visada | 1 ligoje |
| CPLX1complexin 1 | Visada | 1 ligoje |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Visada | 1 ligoje |
| DAG1dystroglycan 1 | Visada | 2 ligose |
| DALRD3DALR anticodon binding domain containing 3 | Visada | 1 ligoje |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Visada | 2 ligose |
| DCAF17DDB1 and CUL4 associated factor 17 | Visada | 1 ligoje |
| DEAF1DEAF1 transcription factor | Visada | 2 ligose |
| DNM1dynamin 1 | Visada | 1 ligoje |
| DOT1LDOT1 like histone lysine methyltransferase | Visada | 1 ligoje |
| DPH5diphthamide biosynthesis 5 | Visada | 1 ligoje |
| EBPEBP cholestenol delta-isomerase | Visada | 1 ligoje |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Visada | 2 ligose |
| EIF4A2eukaryotic translation initiation factor 4A2 | Visada | 1 ligoje |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Visada | 1 ligoje |
| ELP2elongator acetyltransferase complex subunit 2 | Visada | 1 ligoje |
Rodyti dar 442 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| ERLIN2ER lipid raft associated 2 | Visada | 3 ligose |
| FKRPfukutin related protein | Visada | 1 ligoje |
| FKTNfukutin | Visada | 1 ligoje |
| FOXG1forkhead box G1 | Visada | 2 ligose |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Visada | 1 ligoje |
| FRRS1Lferric chelate reductase 1 like | Visada | 1 ligoje |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Visada | 2 ligose |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Visada | 1 ligoje |
| GATMglycine amidinotransferase | Visada | 1 ligoje |
| GET4guided entry of tail-anchored proteins factor 4 | Visada | 1 ligoje |
| GNAO1G protein subunit alpha o1 | Visada | 2 ligose |
| GPT2glutamic--pyruvic transaminase 2 | Visada | 1 ligoje |
| GRIA1glutamate ionotropic receptor AMPA type subunit 1 | Visada | 2 ligose |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Visada | 2 ligose |
| GRIN2Bglutamate ionotropic receptor NMDA type subunit 2B | Visada | 1 ligoje |
| GRM1glutamate metabotropic receptor 1 | Visada | 2 ligose |
| GSX2GS homeobox 2 | Visada | 1 ligoje |
| H4C11H4 clustered histone 11 | Visada | 1 ligoje |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Visada | 1 ligoje |
| HID1HID1 domain containing | Visada | 1 ligoje |
| HIVEP2HIVEP zinc finger 2 | Visada | 1 ligoje |
| IFT140intraflagellar transport 140 | Visada | 1 ligoje |
| IKZF2IKAROS family zinc finger 2 | Visada | 1 ligoje |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Visada | 1 ligoje |
| INTS1integrator complex subunit 1 | Visada | 1 ligoje |
| INTS8integrator complex subunit 8 | Visada | 1 ligoje |
| IREB2iron responsive element binding protein 2 | Visada | 1 ligoje |
| IRF2BPLinterferon regulatory factor 2 binding protein like | Visada | 1 ligoje |
| ISCA2iron-sulfur cluster assembly 2 | Visada | 1 ligoje |
| JKAMPJNK1/MAPK8 associated membrane protein | Visada | 1 ligoje |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Visada | 1 ligoje |
| KCNK3potassium two pore domain channel subfamily K member 3 | Visada | 1 ligoje |
| KCTD7potassium channel tetramerization domain containing 7 | Visada | 1 ligoje |
| KDM2Blysine demethylase 2B | Visada | 1 ligoje |
| KIF5Ckinesin family member 5C | Visada | 1 ligoje |
| KLHL15kelch like family member 15 | Visada | 1 ligoje |
| KLHL20kelch like family member 20 | Visada | 1 ligoje |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Visada | 1 ligoje |
| LGI1leucine rich glioma inactivated 1 | Visada | 1 ligoje |
| LINS1lines homolog 1 | Visada | 1 ligoje |
| LIPT2lipoyl(octanoyl) transferase 2 | Visada | 1 ligoje |
| MAB21L1mab-21 like 1 | Visada | 1 ligoje |
| MCCC1methylcrotonyl-CoA carboxylase subunit 1 | Visada | 1 ligoje |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Visada | 1 ligoje |
| MDH2malate dehydrogenase 2 | Visada | 1 ligoje |
| MECP2methyl-CpG binding protein 2 | Visada | 3 ligose |
| MED16mediator complex subunit 16 | Visada | 1 ligoje |
| MED23mediator complex subunit 23 | Visada | 1 ligoje |
| MEF2Cmyocyte enhancer factor 2C | Visada | 1 ligoje |
| MFSD2AMFSD2 lysolipid transporter A, lysophospholipid | Visada | 1 ligoje |
| MINPP1multiple inositol-polyphosphate phosphatase 1 | Visada | 1 ligoje |
| MKS1MKS transition zone complex subunit 1 | Visada | 1 ligoje |
| MMADHCmetabolism of cobalamin associated D | Visada | 1 ligoje |
| MRPL12mitochondrial ribosomal protein L12 | Visada | 1 ligoje |
| NALCNsodium leak channel, non-selective | Visada | 1 ligoje |
| NCAPD2non-SMC condensin I complex subunit D2 | Visada | 1 ligoje |
| NEXMIFneurite extension and migration factor | Visada | 2 ligose |
| NSD1nuclear receptor binding SET domain protein 1 | Visada | 1 ligoje |
| NSUN2NOP2/Sun RNA methyltransferase 2 | Visada | 1 ligoje |
| OFD1OFD1 centriole and centriolar satellite protein | Visada | 1 ligoje |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Visada | 1 ligoje |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Visada | 1 ligoje |
| PI4K2Aphosphatidylinositol 4-kinase type 2 alpha | Visada | 1 ligoje |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Visada | 2 ligose |
| PIGSphosphatidylinositol glycan anchor biosynthesis class S | Visada | 1 ligoje |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Visada | 1 ligoje |
| PLAAphospholipase A2 activating protein | Visada | 1 ligoje |
| PMPCBpeptidase, mitochondrial processing subunit beta | Visada | 1 ligoje |
| POMT1protein O-mannosyltransferase 1 | Visada | 2 ligose |
| POMT2protein O-mannosyltransferase 2 | Visada | 1 ligoje |
| POT1protection of telomeres 1 | Visada | 1 ligoje |
| PRUNE1prune exopolyphosphatase 1 | Visada | 2 ligose |
| PSMB1proteasome 20S subunit beta 1 | Visada | 1 ligoje |
| PSMC1proteasome 26S subunit, ATPase 1 | Visada | 1 ligoje |
| PURApurine rich element binding protein A | Visada | 1 ligoje |
| RAB11BRAB11B, member RAS oncogene family | Visada | 1 ligoje |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Visada | 1 ligoje |
| RAB5IFRAB5 interacting factor | Visada | 1 ligoje |
| RALGAPA1Ral GTPase activating protein catalytic subunit alpha 1 | Visada | 1 ligoje |
| RBSNrabenosyn, RAB effector | Visada | 1 ligoje |
| SATB1SATB homeobox 1 | Visada | 1 ligoje |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Visada | 2 ligose |
| SHQ1SHQ1, H/ACA ribonucleoprotein assembly factor | Visada | 1 ligoje |
| SIK1salt inducible kinase 1 | Visada | 1 ligoje |
| SLC12A2solute carrier family 12 member 2 | Visada | 2 ligose |
| SLC13A5solute carrier family 13 member 5 | Visada | 1 ligoje |
| SLC1A4solute carrier family 1 member 4 | Visada | 1 ligoje |
| SLC25A12solute carrier family 25 member 12 | Visada | 1 ligoje |
| SLC33A1solute carrier family 33 member 1 | Visada | 1 ligoje |
| SLC35A2solute carrier family 35 member A2 | Visada | 1 ligoje |
| SLC38A3solute carrier family 38 member 3 | Visada | 1 ligoje |
| SLC9A6solute carrier family 9 member A6 | Visada | 2 ligose |
| SMC1Astructural maintenance of chromosomes 1A | Visada | 2 ligose |
| SOD1superoxide dismutase 1 | Visada | 1 ligoje |
| SPTBN4spectrin beta, non-erythrocytic 4 | Visada | 1 ligoje |
| STILSTIL centriolar assembly protein | Visada | 5 ligose |
| SUOXsulfite oxidase | Visada | 1 ligoje |
| SUPT7LSPT7 like, STAGA complex subunit gamma | Visada | 1 ligoje |
| TANGO2transport and golgi organization 2 homolog | Visada | 1 ligoje |
| TFE3transcription factor binding to IGHM enhancer 3 | Visada | 1 ligoje |
| TM2D3TM2 domain containing 3 | Visada | 1 ligoje |
| TMEM231transmembrane protein 231 | Visada | 1 ligoje |
| TRAPPC2Ltrafficking protein particle complex subunit 2L | Visada | 1 ligoje |
| TREX1three prime repair exonuclease 1 | Visada | 1 ligoje |
| UBE3Aubiquitin protein ligase E3A | Visada | 3 ligose |
| UBE3Bubiquitin protein ligase E3B | Visada | 1 ligoje |
| UBTFupstream binding transcription factor | Visada | 2 ligose |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Visada | 1 ligoje |
| UGP2UDP-glucose pyrophosphorylase 2 | Visada | 1 ligoje |
| UNC13Aunc-13 homolog A | Visada | 2 ligose |
| UNC80unc-80 subunit of NALCN channel complex | Visada | 1 ligoje |
| VARS1valyl-tRNA synthetase 1 | Visada | 1 ligoje |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Visada | 2 ligose |
| WARS1tryptophanyl-tRNA synthetase 1 | Visada | 1 ligoje |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Visada | 3 ligose |
| WDR37WD repeat domain 37 | Visada | 1 ligoje |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Visada | 1 ligoje |
| WSB2WD repeat and SOCS box containing 2 | Visada | 1 ligoje |
| ADSLadenylosuccinate lyase | Labai dažnai (80–99%) | 1 ligoje |
| ASPAaspartoacylase | Labai dažnai (80–99%) | 1 ligoje |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Labai dažnai (80–99%) | 1 ligoje |
| CASZ1castor zinc finger 1 | Labai dažnai (80–99%) | 1 ligoje |
| CUL4Bcullin 4B | Labai dažnai (80–99%) | 2 ligose |
| DHX30DExH-box helicase 30 | Labai dažnai (80–99%) | 1 ligoje |
| DOHHdeoxyhypusine hydroxylase | Labai dažnai (80–99%) | 1 ligoje |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Labai dažnai (80–99%) | 1 ligoje |
| GTPBP2GTP binding protein 2 | Labai dažnai (80–99%) | 1 ligoje |
| HSPG2heparan sulfate proteoglycan 2 | Labai dažnai (80–99%) | 1 ligoje |
| KARS1lysyl-tRNA synthetase 1 | Labai dažnai (80–99%) | 2 ligose |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Labai dažnai (80–99%) | 1 ligoje |
| KDM5Alysine demethylase 5A | Labai dažnai (80–99%) | 1 ligoje |
| LUZP1leucine zipper protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| MAST1microtubule associated serine/threonine kinase 1 | Labai dažnai (80–99%) | 1 ligoje |
| MCOLN1mucolipin TRP cation channel 1 | Labai dažnai (80–99%) | 2 ligose |
| MMP23Bmatrix metallopeptidase 23B | Labai dažnai (80–99%) | 1 ligoje |
| PDPNpodoplanin | Labai dažnai (80–99%) | 1 ligoje |
| PPFIBP1PPFIB scaffold protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| PPIL1peptidylprolyl isomerase like 1 | Labai dažnai (80–99%) | 1 ligoje |
| PPP2R1Aprotein phosphatase 2 scaffold subunit Aalpha | Labai dažnai (80–99%) | 2 ligose |
| PRDM16PR/SET domain 16 | Labai dažnai (80–99%) | 1 ligoje |
| PRKCZprotein kinase C zeta | Labai dažnai (80–99%) | 1 ligoje |
| PYCR2pyrroline-5-carboxylate reductase 2 | Labai dažnai (80–99%) | 2 ligose |
| REREarginine-glutamic acid dipeptide repeats | Labai dažnai (80–99%) | 1 ligoje |
| RNU2-2RNA, U2 small nuclear 2 | Labai dažnai (80–99%) | 1 ligoje |
| RNU4-2RNA, U4 small nuclear 2 | Labai dažnai (80–99%) | 1 ligoje |
| SATB2SATB homeobox 2 | Labai dažnai (80–99%) | 2 ligose |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Labai dažnai (80–99%) | 1 ligoje |
| SKISKI proto-oncogene | Labai dažnai (80–99%) | 1 ligoje |
| SPENspen family transcriptional repressor | Labai dažnai (80–99%) | 2 ligose |
| SYT1synaptotagmin 1 | Labai dažnai (80–99%) | 2 ligose |
| TCF4transcription factor 4 | Labai dažnai (80–99%) | 2 ligose |
| TRIM8tripartite motif containing 8 | Labai dažnai (80–99%) | 1 ligoje |
| TUBA8tubulin alpha 8 | Labai dažnai (80–99%) | 1 ligoje |
| UBA5ubiquitin like modifier activating enzyme 5 | Labai dažnai (80–99%) | 1 ligoje |
| UBE4Bubiquitination factor E4B | Labai dažnai (80–99%) | 1 ligoje |
| ZEB2zinc finger E-box binding homeobox 2 | Labai dažnai (80–99%) | 3 ligose |
| ZSWIM6zinc finger SWIM-type containing 6 | Labai dažnai (80–99%) | 1 ligoje |
| ADARB1adenosine deaminase RNA specific B1 | Dažnai (30–79%) | 1 ligoje |
| AGTPBP1ATP/GTP binding carboxypeptidase 1 | Dažnai (30–79%) | 1 ligoje |
| AHDC1AT-hook DNA binding motif containing 1 | Dažnai (30–79%) | 1 ligoje |
| AMPD2adenosine monophosphate deaminase 2 | Dažnai (30–79%) | 1 ligoje |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Dažnai (30–79%) | 1 ligoje |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Dažnai (30–79%) | 1 ligoje |
| ASXL3ASXL transcriptional regulator 3 | Dažnai (30–79%) | 2 ligose |
| ATN1atrophin 1 | Dažnai (30–79%) | 1 ligoje |
| ATP5F1AATP synthase F1 subunit alpha | Dažnai (30–79%) | 1 ligoje |
| ATP6V1AATPase H+ transporting V1 subunit A | Dažnai (30–79%) | 1 ligoje |
| BAIAP2BAR/IMD domain containing adaptor protein 2 | Dažnai (30–79%) | 1 ligoje |
| CACNA1Icalcium voltage-gated channel subunit alpha1 I | Dažnai (30–79%) | 1 ligoje |
| CAMK2Bcalcium/calmodulin dependent protein kinase II beta | Dažnai (30–79%) | 1 ligoje |
| CDONcell adhesion associated, oncogene regulated | Dažnai (30–79%) | 4 ligose |
| CHAMP1chromosome alignment maintaining phosphoprotein 1 | Dažnai (30–79%) | 1 ligoje |
| CLIC2CLIC family member 2 | Dažnai (30–79%) | 1 ligoje |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Dažnai (30–79%) | 1 ligoje |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Dažnai (30–79%) | 1 ligoje |
| CNNM2cyclin and CBS domain divalent metal cation transport mediator 2 | Dažnai (30–79%) | 1 ligoje |
| COG3component of oligomeric golgi complex 3 | Dažnai (30–79%) | 1 ligoje |
| COPB1coat protein complex I subunit beta 1 | Dažnai (30–79%) | 1 ligoje |
| CPAPcentrosome assembly and centriole elongation protein | Dažnai (30–79%) | 1 ligoje |
| CRIPTOcripto, EGF-CFC family member | Dažnai (30–79%) | 4 ligose |
| CTNNA2catenin alpha 2 | Dažnai (30–79%) | 1 ligoje |
| DCPSdecapping enzyme, scavenger | Dažnai (30–79%) | 1 ligoje |
| DEGS1delta 4-desaturase, sphingolipid 1 | Dažnai (30–79%) | 1 ligoje |
| DENND5ADENN domain containing 5A | Dažnai (30–79%) | 1 ligoje |
| DISP1dispatched RND transporter family member 1 | Dažnai (30–79%) | 4 ligose |
| DLL1delta like canonical Notch ligand 1 | Dažnai (30–79%) | 4 ligose |
| DNM1Ldynamin 1L | Dažnai (30–79%) | 1 ligoje |
| DOCK3dedicator of cytokinesis 3 | Dažnai (30–79%) | 1 ligoje |
| DOCK7dedicator of cytokinesis 7 | Dažnai (30–79%) | 1 ligoje |
| DPM2dolichyl-phosphate mannosyltransferase subunit 2, regulatory | Dažnai (30–79%) | 1 ligoje |
| DPYSL5dihydropyrimidinase like 5 | Dažnai (30–79%) | 1 ligoje |
| DYMdymeclin | Dažnai (30–79%) | 1 ligoje |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Dažnai (30–79%) | 2 ligose |
| EARS2glutamyl-tRNA synthetase 2, mitochondrial | Dažnai (30–79%) | 1 ligoje |
| EIF2AK2eukaryotic translation initiation factor 2 alpha kinase 2 | Dažnai (30–79%) | 1 ligoje |
| EXOSC5exosome component 5 | Dažnai (30–79%) | 1 ligoje |
| FGF12fibroblast growth factor 12 | Dažnai (30–79%) | 1 ligoje |
| FGF13fibroblast growth factor 13 | Dažnai (30–79%) | 1 ligoje |
| FGF8fibroblast growth factor 8 | Dažnai (30–79%) | 4 ligose |
| FGFR1fibroblast growth factor receptor 1 | Dažnai (30–79%) | 2 ligose |
| FOXH1forkhead box H1 | Dažnai (30–79%) | 4 ligose |
| FRA10AC1FRA10A associated CGG repeat 1 | Dažnai (30–79%) | 1 ligoje |
| FRMD4AFERM domain containing 4A | Dažnai (30–79%) | 2 ligose |
| FRMPD4FERM and PDZ domain containing 4 | Dažnai (30–79%) | 1 ligoje |
| GAMTguanidinoacetate N-methyltransferase | Dažnai (30–79%) | 1 ligoje |
| GAS1growth arrest specific 1 | Dažnai (30–79%) | 4 ligose |
| GCDHglutaryl-CoA dehydrogenase | Dažnai (30–79%) | 1 ligoje |
| GEMIN4gem nuclear organelle associated protein 4 | Dažnai (30–79%) | 1 ligoje |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Dažnai (30–79%) | 1 ligoje |
| GLI2GLI family zinc finger 2 | Dažnai (30–79%) | 4 ligose |
| GNAI1G protein subunit alpha i1 | Dažnai (30–79%) | 1 ligoje |
| GNB5G protein subunit beta 5 | Dažnai (30–79%) | 2 ligose |
| GOT2glutamic-oxaloacetic transaminase 2 | Dažnai (30–79%) | 1 ligoje |
| GRIA2glutamate ionotropic receptor AMPA type subunit 2 | Dažnai (30–79%) | 1 ligoje |
| GRIA4glutamate ionotropic receptor AMPA type subunit 4 | Dažnai (30–79%) | 1 ligoje |
| HDAC4histone deacetylase 4 | Dažnai (30–79%) | 1 ligoje |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Dažnai (30–79%) | 2 ligose |
| HNRNPH1heterogeneous nuclear ribonucleoprotein H1 | Dažnai (30–79%) | 1 ligoje |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Dažnai (30–79%) | 1 ligoje |
| IARS1isoleucyl-tRNA synthetase 1 | Dažnai (30–79%) | 2 ligose |
| IQSEC1IQ motif and Sec7 domain ArfGEF 1 | Dažnai (30–79%) | 1 ligoje |
| KAT6Alysine acetyltransferase 6A | Dažnai (30–79%) | 1 ligoje |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Dažnai (30–79%) | 1 ligoje |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Dažnai (30–79%) | 1 ligoje |
| KCNQ5potassium voltage-gated channel subfamily Q member 5 | Dažnai (30–79%) | 1 ligoje |
| KICS2KICSTOR subunit 2 | Dažnai (30–79%) | 1 ligoje |
| KIF15kinesin family member 15 | Dažnai (30–79%) | 1 ligoje |
| LINGO1leucine rich repeat and Ig domain containing 1 | Dažnai (30–79%) | 1 ligoje |
| LNPKlunapark, ER junction formation factor | Dažnai (30–79%) | 1 ligoje |
| MACF1microtubule actin crosslinking factor 1 | Dažnai (30–79%) | 1 ligoje |
| MBOAT7membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7 | Dažnai (30–79%) | 1 ligoje |
| MED12mediator complex subunit 12 | Dažnai (30–79%) | 1 ligoje |
| MED25mediator complex subunit 25 | Dažnai (30–79%) | 1 ligoje |
| MFFmitochondrial fission factor | Dažnai (30–79%) | 1 ligoje |
| MRPS34mitochondrial ribosomal protein S34 | Dažnai (30–79%) | 1 ligoje |
| MSL3MSL complex subunit 3 | Dažnai (30–79%) | 1 ligoje |
| NAV3neuron navigator 3 | Dažnai (30–79%) | 1 ligoje |
| NCAPG2non-SMC condensin II complex subunit G2 | Dažnai (30–79%) | 1 ligoje |
| NFIXnuclear factor I X | Dažnai (30–79%) | 1 ligoje |
| NGLY1N-glycanase 1 | Dažnai (30–79%) | 1 ligoje |
| NODALnodal growth differentiation factor | Dažnai (30–79%) | 4 ligose |
| NSRP1nuclear speckle splicing regulatory protein 1 | Dažnai (30–79%) | 1 ligoje |
| NTNG2netrin G2 | Dažnai (30–79%) | 1 ligoje |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Dažnai (30–79%) | 1 ligoje |
| OTUD6BOTU deubiquitinase 6B | Dažnai (30–79%) | 1 ligoje |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Dažnai (30–79%) | 1 ligoje |
| PGAP2post-GPI attachment to proteins 2 | Dažnai (30–79%) | 1 ligoje |
| PIGFphosphatidylinositol glycan anchor biosynthesis class F | Dažnai (30–79%) | 1 ligoje |
| PLCH1phospholipase C eta 1 | Dažnai (30–79%) | 1 ligoje |
| PLK4polo like kinase 4 | Dažnai (30–79%) | 1 ligoje |
| PLP1proteolipid protein 1 | Dažnai (30–79%) | 1 ligoje |
| POLR1ARNA polymerase I subunit A | Dažnai (30–79%) | 1 ligoje |
| POLR3KRNA polymerase III subunit K | Dažnai (30–79%) | 1 ligoje |
| PPFIA3PPFI scaffold protein A3 | Dažnai (30–79%) | 1 ligoje |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Dažnai (30–79%) | 2 ligose |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Dažnai (30–79%) | 1 ligoje |
| PTCH1patched 1 | Dažnai (30–79%) | 4 ligose |
| RAC1Rac family small GTPase 1 | Dažnai (30–79%) | 2 ligose |
| RALARAS like proto-oncogene A | Dažnai (30–79%) | 1 ligoje |
| RHOBTB2Rho related BTB domain containing 2 | Dažnai (30–79%) | 1 ligoje |
| RNU5B-1RNA, U5B small nuclear 1 | Dažnai (30–79%) | 1 ligoje |
| RPL10ribosomal protein L10 | Dažnai (30–79%) | 1 ligoje |
| SETBP1SET binding protein 1 | Dažnai (30–79%) | 1 ligoje |
| SHHsonic hedgehog signaling molecule | Dažnai (30–79%) | 4 ligose |
| SIX3SIX homeobox 3 | Dažnai (30–79%) | 4 ligose |
| SLC12A6solute carrier family 12 member 6 | Dažnai (30–79%) | 1 ligoje |
| SLC35B2solute carrier family 35 member B2 | Dažnai (30–79%) | 1 ligoje |
| SLC4A10solute carrier family 4 member 10 | Dažnai (30–79%) | 1 ligoje |
| SLC6A1solute carrier family 6 member 1 | Dažnai (30–79%) | 1 ligoje |
| SLC6A11solute carrier family 6 member 11 | Dažnai (30–79%) | 1 ligoje |
| SLC6A17solute carrier family 6 member 17 | Dažnai (30–79%) | 1 ligoje |
| SLC6A3solute carrier family 6 member 3 | Dažnai (30–79%) | 1 ligoje |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Dažnai (30–79%) | 2 ligose |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Dažnai (30–79%) | 2 ligose |
| SNX14sorting nexin 14 | Dažnai (30–79%) | 2 ligose |
| SPTSSAserine palmitoyltransferase small subunit A | Dažnai (30–79%) | 1 ligoje |
| STAG2STAG2 cohesin complex component | Dažnai (30–79%) | 2 ligose |
| STXBP1syntaxin binding protein 1 | Dažnai (30–79%) | 2 ligose |
| SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit | Dažnai (30–79%) | 1 ligoje |
| SZT2SZT2 subunit of KICSTOR complex | Dažnai (30–79%) | 1 ligoje |
| TAF2TATA-box binding protein associated factor 2 | Dažnai (30–79%) | 1 ligoje |
| TBC1D20TBC1 domain family member 20 | Dažnai (30–79%) | 1 ligoje |
| TBCDtubulin folding cofactor D | Dažnai (30–79%) | 2 ligose |
| TBCEtubulin folding cofactor E | Dažnai (30–79%) | 1 ligoje |
| TBCKTBC1 domain containing kinase | Dažnai (30–79%) | 1 ligoje |
| TELO2telomere maintenance 2 | Dažnai (30–79%) | 2 ligose |
| TGIF1TGFB induced factor homeobox 1 | Dažnai (30–79%) | 4 ligose |
| TKTtransketolase | Dažnai (30–79%) | 2 ligose |
| TMEM147transmembrane protein 147 | Dažnai (30–79%) | 1 ligoje |
| TOR1Atorsin family 1 member A | Dažnai (30–79%) | 1 ligoje |
| TRAPPC10trafficking protein particle complex subunit 10 | Dažnai (30–79%) | 1 ligoje |
| TRAPPC11trafficking protein particle complex subunit 11 | Dažnai (30–79%) | 1 ligoje |
| TRAPPC6Btrafficking protein particle complex subunit 6B | Dažnai (30–79%) | 1 ligoje |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Dažnai (30–79%) | 1 ligoje |
| TTC5tetratricopeptide repeat domain 5 | Dažnai (30–79%) | 1 ligoje |
| TUBB2Atubulin beta 2A class IIa | Dažnai (30–79%) | 1 ligoje |
| UBE2Aubiquitin conjugating enzyme E2 A | Dažnai (30–79%) | 1 ligoje |
| UFSP2UFM1 specific peptidase 2 | Dažnai (30–79%) | 1 ligoje |
| VPS11VPS11 core subunit of CORVET and HOPS complexes | Dažnai (30–79%) | 2 ligose |
| VPS41VPS41 subunit of HOPS complex | Dažnai (30–79%) | 1 ligoje |
| VPS4Avacuolar protein sorting 4 homolog A | Dažnai (30–79%) | 1 ligoje |
| WBP4WW domain binding protein 4 | Dažnai (30–79%) | 1 ligoje |
| WDR45WD repeat domain 45 | Dažnai (30–79%) | 1 ligoje |
| ZIC2Zic family zinc finger 2 | Dažnai (30–79%) | 4 ligose |
| ACBD6acyl-CoA binding domain containing 6 | Kartais (5–29%) | 1 ligoje |
| ADNPactivity dependent neuroprotector homeobox | Kartais (5–29%) | 1 ligoje |
| ARID1AAT-rich interaction domain 1A | Kartais (5–29%) | 1 ligoje |
| ARID1BAT-rich interaction domain 1B | Kartais (5–29%) | 1 ligoje |
| ATG7autophagy related 7 | Kartais (5–29%) | 1 ligoje |
| ATP10AATPase phospholipid transporting 10A (putative) | Kartais (5–29%) | 1 ligoje |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Kartais (5–29%) | 1 ligoje |
| BCAS3BCAS3 microtubule associated cell migration factor | Kartais (5–29%) | 1 ligoje |
| CARS2cysteinyl-tRNA synthetase 2, mitochondrial | Kartais (5–29%) | 1 ligoje |
| CDC42cell division cycle 42 | Kartais (5–29%) | 2 ligose |
| CLPBClpB family mitochondrial disaggregase | Kartais (5–29%) | 1 ligoje |
| CLTCclathrin heavy chain | Kartais (5–29%) | 1 ligoje |
| CNTNAP2contactin associated protein 2 | Kartais (5–29%) | 2 ligose |
| CRBNcereblon | Kartais (5–29%) | 1 ligoje |
| CREBBPCREB binding lysine acetyltransferase | Kartais (5–29%) | 2 ligose |
| CSNK2A1casein kinase 2 alpha 1 | Kartais (5–29%) | 1 ligoje |
| CSPP1centrosome and spindle pole associated protein 1 | Kartais (5–29%) | 1 ligoje |
| DOLKdolichol kinase | Kartais (5–29%) | 1 ligoje |
| DPF2double PHD fingers 2 | Kartais (5–29%) | 1 ligoje |
| DPYDdihydropyrimidine dehydrogenase | Kartais (5–29%) | 1 ligoje |
| EHMT1euchromatic histone lysine methyltransferase 1 | Kartais (5–29%) | 1 ligoje |
| EIF3Feukaryotic translation initiation factor 3 subunit F | Kartais (5–29%) | 1 ligoje |
| EP300EP300 lysine acetyltransferase | Kartais (5–29%) | 1 ligoje |
| EXTL3exostosin like glycosyltransferase 3 | Kartais (5–29%) | 1 ligoje |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Kartais (5–29%) | 1 ligoje |
| FTH1ferritin heavy chain 1 | Kartais (5–29%) | 1 ligoje |
| GMPPBGDP-mannose pyrophosphorylase B | Kartais (5–29%) | 1 ligoje |
| GRIK2glutamate ionotropic receptor kainate type subunit 2 | Kartais (5–29%) | 1 ligoje |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Kartais (5–29%) | 1 ligoje |
| HEPACAMhepatic and glial cell adhesion molecule | Kartais (5–29%) | 1 ligoje |
| HIKESHIheat shock protein nuclear import factor hikeshi | Kartais (5–29%) | 1 ligoje |
| HNRNPCheterogeneous nuclear ribonucleoprotein C | Kartais (5–29%) | 1 ligoje |
| HNRNPH2heterogeneous nuclear ribonucleoprotein H2 | Kartais (5–29%) | 1 ligoje |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Kartais (5–29%) | 1 ligoje |
| IQSEC2IQ motif and Sec7 domain ArfGEF 2 | Kartais (5–29%) | 1 ligoje |
| KCNJ10potassium inwardly rectifying channel subfamily J member 10 | Kartais (5–29%) | 1 ligoje |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Kartais (5–29%) | 1 ligoje |
| KIAA0586KIAA0586 | Kartais (5–29%) | 1 ligoje |
| KIF1Akinesin family member 1A | Kartais (5–29%) | 1 ligoje |
| KMT5Blysine methyltransferase 5B | Kartais (5–29%) | 1 ligoje |
| LAS1LLAS1 like ribosome biogenesis factor | Kartais (5–29%) | 1 ligoje |
| LMAN2Llectin, mannose binding 2 like | Kartais (5–29%) | 1 ligoje |
| LMNB1lamin B1 | Kartais (5–29%) | 1 ligoje |
| NDC1NDC1 transmembrane nucleoporin | Kartais (5–29%) | 1 ligoje |
| NOTCH3notch receptor 3 | Kartais (5–29%) | 1 ligoje |
| NR2F1nuclear receptor subfamily 2 group F member 1 | Kartais (5–29%) | 1 ligoje |
| OCA2OCA2 melanosomal transmembrane protein | Kartais (5–29%) | 1 ligoje |
| ODC1ornithine decarboxylase 1 | Kartais (5–29%) | 1 ligoje |
| OPHN1oligophrenin 1 | Kartais (5–29%) | 1 ligoje |
| PACS1phosphofurin acidic cluster sorting protein 1 | Kartais (5–29%) | 2 ligose |
| PCGF2polycomb group ring finger 2 | Kartais (5–29%) | 1 ligoje |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Kartais (5–29%) | 2 ligose |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Kartais (5–29%) | 2 ligose |
| POGZpogo transposable element derived with ZNF domain | Kartais (5–29%) | 1 ligoje |
| POLRMTRNA polymerase mitochondrial | Kartais (5–29%) | 1 ligoje |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Kartais (5–29%) | 1 ligoje |
| PUS3pseudouridine synthase 3 | Kartais (5–29%) | 1 ligoje |
| RAB18RAB18, member RAS oncogene family | Kartais (5–29%) | 1 ligoje |
| RNU7-1RNA, U7 small nuclear 1 | Kartais (5–29%) | 1 ligoje |
| SERAC1serine active site containing 1 | Kartais (5–29%) | 2 ligose |
| SHROOM4shroom family member 4 | Kartais (5–29%) | 1 ligoje |
| SLC39A14solute carrier family 39 member 14 | Kartais (5–29%) | 1 ligoje |
| SLITRK2SLIT and NTRK like family member 2 | Kartais (5–29%) | 1 ligoje |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Kartais (5–29%) | 1 ligoje |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Kartais (5–29%) | 1 ligoje |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Kartais (5–29%) | 2 ligose |
| SMSspermine synthase | Kartais (5–29%) | 1 ligoje |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Kartais (5–29%) | 2 ligose |
| SOX11SRY-box transcription factor 11 | Kartais (5–29%) | 1 ligoje |
| SOX4SRY-box transcription factor 4 | Kartais (5–29%) | 1 ligoje |
| SPTBN1spectrin beta, non-erythrocytic 1 | Kartais (5–29%) | 1 ligoje |
| SRCAPSnf2 related CREBBP activator protein | Kartais (5–29%) | 1 ligoje |
| SRPK3SRSF protein kinase 3 | Kartais (5–29%) | 1 ligoje |
| STRADASTE20 related adaptor alpha | Kartais (5–29%) | 2 ligose |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Kartais (5–29%) | 1 ligoje |
| TBL1XR1TBL1X/Y related 1 | Kartais (5–29%) | 1 ligoje |
| TIMM50translocase of inner mitochondrial membrane 50 | Kartais (5–29%) | 2 ligose |
| TMCO1transmembrane and coiled-coil domains 1 | Kartais (5–29%) | 1 ligoje |
| TMEM106Btransmembrane protein 106B | Kartais (5–29%) | 1 ligoje |
| TMTC3transmembrane O-mannosyltransferase targeting cadherins 3 | Kartais (5–29%) | 1 ligoje |
| TNPO2transportin 2 | Kartais (5–29%) | 1 ligoje |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Kartais (5–29%) | 1 ligoje |
| TRIOtrio Rho guanine nucleotide exchange factor | Kartais (5–29%) | 1 ligoje |
| TRPV6transient receptor potential cation channel subfamily V member 6 | Kartais (5–29%) | 1 ligoje |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Kartais (5–29%) | 1 ligoje |
| USP7ubiquitin specific peptidase 7 | Kartais (5–29%) | 2 ligose |
| WACWW domain containing adaptor with coiled-coil | Kartais (5–29%) | 1 ligoje |
| WDR26WD repeat domain 26 | Kartais (5–29%) | 2 ligose |
| WDR83OSWD repeat domain 83 opposite strand | Kartais (5–29%) | 1 ligoje |
| YME1L1YME1 like 1 ATPase | Kartais (5–29%) | 1 ligoje |
| YY1YY1 transcription factor | Kartais (5–29%) | 1 ligoje |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Retai (1–4 %) | 1 ligoje |
| ACOX1acyl-CoA oxidase 1 | Neužfiksuota | 1 ligoje |
| ALG11ALG11 alpha-1,2-mannosyltransferase | Neužfiksuota | 1 ligoje |
| BCL11BBCL11 transcription factor B | Neužfiksuota | 1 ligoje |
| BLTP1bridge-like lipid transfer protein family member 1 | Neužfiksuota | 1 ligoje |
| BMP4bone morphogenetic protein 4 | Neužfiksuota | 1 ligoje |
| BRAT1BRCA1 associated ATM activator 1 | Neužfiksuota | 1 ligoje |
| C2CD3C2 domain containing 3 centriole elongation regulator | Neužfiksuota | 1 ligoje |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Neužfiksuota | 1 ligoje |
| CCDC47coiled-coil domain containing 47 | Neužfiksuota | 1 ligoje |
| CCND2cyclin D2 | Neužfiksuota | 1 ligoje |
| CHMP1Acharged multivesicular body protein 1A | Neužfiksuota | 1 ligoje |
| CLCN4Cl-/H+ antiporter 4 | Neužfiksuota | 1 ligoje |
| EXOSC3exosome component 3 | Neužfiksuota | 1 ligoje |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Neužfiksuota | 1 ligoje |
| GNSglucosamine (N-acetyl)-6-sulfatase | Neužfiksuota | 1 ligoje |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Neužfiksuota | 1 ligoje |
| HNRNPUheterogeneous nuclear ribonucleoprotein U | Neužfiksuota | 1 ligoje |
| HTThuntingtin | Neužfiksuota | 1 ligoje |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Neužfiksuota | 1 ligoje |
| IFIH1interferon induced with helicase C domain 1 | Neužfiksuota | 1 ligoje |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Neužfiksuota | 1 ligoje |
| MAGEL2MAGE family member L2 | Neužfiksuota | 1 ligoje |
| MPDU1mannose-P-dolichol utilization defect 1 | Neužfiksuota | 1 ligoje |
| NACC1nucleus accumbens associated 1 | Neužfiksuota | 1 ligoje |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Neužfiksuota | 1 ligoje |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Neužfiksuota | 1 ligoje |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Neužfiksuota | 1 ligoje |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Neužfiksuota | 1 ligoje |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Neužfiksuota | 1 ligoje |
| RARS2arginyl-tRNA synthetase 2, mitochondrial | Neužfiksuota | 1 ligoje |
| RMND1required for meiotic nuclear division 1 homolog | Neužfiksuota | 1 ligoje |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Neužfiksuota | 1 ligoje |
| SLC1A2solute carrier family 1 member 2 | Neužfiksuota | 1 ligoje |
| SLC2A1solute carrier family 2 member 1 | Neužfiksuota | 1 ligoje |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Neužfiksuota | 1 ligoje |
| ST3GAL5ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | Neužfiksuota | 1 ligoje |
| TCTN2tectonic family member 2 | Neužfiksuota | 1 ligoje |
| TOE1target of EGR1, exonuclease | Neužfiksuota | 1 ligoje |
| TRIT1tRNA isopentenyltransferase 1 | Neužfiksuota | 1 ligoje |
| TRRAPtransformation/transcription domain associated protein | Neužfiksuota | 1 ligoje |
| UFM1ubiquitin fold modifier 1 | Neužfiksuota | 1 ligoje |
| UQCRQubiquinol-cytochrome c reductase complex III subunit VII | Neužfiksuota | 1 ligoje |
| USP27Xubiquitin specific peptidase 27 X-linked | Neužfiksuota | 1 ligoje |
| WDR45BWD repeat domain 45B | Neužfiksuota | 1 ligoje |
| ZBTB18zinc finger and BTB domain containing 18 | Neužfiksuota | 1 ligoje |
| ZC4H2zinc finger C4H2-type containing | Neužfiksuota | 1 ligoje |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
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