Požymis
Specific learning disability
Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.
Santrauka
- Kūno sistema
- Abnormality of the nervous system
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
Read the genes linked to Specific learning disability, and the rest of your genome, with one test.
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Įsigyti savo Genome Test298 genų susiję su Specific learning disability
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Specific learning disability. 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 |
|---|---|---|
| FARSBphenylalanyl-tRNA synthetase subunit beta | Visada | 1 ligoje |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Visada | 1 ligoje |
| MICU1mitochondrial calcium uptake 1 | Visada | 1 ligoje |
| PAPPA2pappalysin 2 | Visada | 1 ligoje |
| PCGF2polycomb group ring finger 2 | Visada | 1 ligoje |
| SKOR2SKI family transcriptional corepressor 2 | Visada | 1 ligoje |
| SRSF1serine and arginine rich splicing factor 1 | Visada | 1 ligoje |
| TMEM94transmembrane protein 94 | Visada | 1 ligoje |
| ACTBactin beta | Labai dažnai (80–99%) | 1 ligoje |
| ACTG1actin gamma 1 | Labai dažnai (80–99%) | 1 ligoje |
| ATP7AATPase copper transporting alpha | Labai dažnai (80–99%) | 1 ligoje |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Labai dažnai (80–99%) | 1 ligoje |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Labai dažnai (80–99%) | 1 ligoje |
| CKAP2Lcytoskeleton associated protein 2L | Labai dažnai (80–99%) | 1 ligoje |
| COL4A1collagen type IV alpha 1 chain | Labai dažnai (80–99%) | 1 ligoje |
| CRPPACDP-L-ribitol pyrophosphorylase A | Labai dažnai (80–99%) | 1 ligoje |
| DAG1dystroglycan 1 | Labai dažnai (80–99%) | 1 ligoje |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Labai dažnai (80–99%) | 1 ligoje |
| DMDdystrophin | Labai dažnai (80–99%) | 1 ligoje |
| EBF3EBF transcription factor 3 | Labai dažnai (80–99%) | 1 ligoje |
| EHMT1euchromatic histone lysine methyltransferase 1 | Labai dažnai (80–99%) | 1 ligoje |
| FKRPfukutin related protein | Labai dažnai (80–99%) | 1 ligoje |
| FKTNfukutin | Labai dažnai (80–99%) | 1 ligoje |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Labai dažnai (80–99%) | 1 ligoje |
| HMGA2high mobility group AT-hook 2 | Labai dažnai (80–99%) | 1 ligoje |
| KAT6Blysine acetyltransferase 6B | Labai dažnai (80–99%) | 1 ligoje |
| KIFBPkinesin family binding protein | Labai dažnai (80–99%) | 1 ligoje |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Labai dažnai (80–99%) | 1 ligoje |
| LEMD3LEM domain containing 3 | Labai dažnai (80–99%) | 1 ligoje |
| LTBP4latent transforming growth factor beta binding protein 4 | Labai dažnai (80–99%) | 1 ligoje |
| MAGEL2MAGE family member L2 | Labai dažnai (80–99%) | 5 ligose |
| MAN2B1mannosidase alpha class 2B member 1 | Labai dažnai (80–99%) | 1 ligoje |
| MAP2K2mitogen-activated protein kinase kinase 2 | Labai dažnai (80–99%) | 1 ligoje |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Labai dažnai (80–99%) | 1 ligoje |
| MKRN3makorin ring finger protein 3 | Labai dažnai (80–99%) | 1 ligoje |
| MYO5Amyosin VA | Labai dažnai (80–99%) | 1 ligoje |
| NF1neurofibromin 1 | Labai dažnai (80–99%) | 5 ligose |
| NPAP1nuclear pore associated protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| NSD1nuclear receptor binding SET domain protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Labai dažnai (80–99%) | 1 ligoje |
Rodyti dar 258 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Labai dažnai (80–99%) | 1 ligoje |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Labai dažnai (80–99%) | 1 ligoje |
| POMKprotein O-mannose kinase | Labai dažnai (80–99%) | 1 ligoje |
| POMT1protein O-mannosyltransferase 1 | Labai dažnai (80–99%) | 1 ligoje |
| POMT2protein O-mannosyltransferase 2 | Labai dažnai (80–99%) | 2 ligose |
| PRNPprion protein (Kanno blood group) | Labai dažnai (80–99%) | 1 ligoje |
| PTDSS1phosphatidylserine synthase 1 | Labai dažnai (80–99%) | 1 ligoje |
| PWAR1Prader Willi/Angelman region RNA 1 | Labai dažnai (80–99%) | 1 ligoje |
| PWRN1Prader-Willi region non-protein coding RNA 1 | Labai dažnai (80–99%) | 1 ligoje |
| RNU4ATACRNA, U4atac small nuclear | Labai dažnai (80–99%) | 1 ligoje |
| RXYLT1ribitol xylosyltransferase 1 | Labai dažnai (80–99%) | 1 ligoje |
| SC5Dsterol-C5-desaturase | Labai dažnai (80–99%) | 1 ligoje |
| SIL1SIL1 nucleotide exchange factor | Labai dažnai (80–99%) | 1 ligoje |
| SMAD4SMAD family member 4 | Labai dažnai (80–99%) | 1 ligoje |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Labai dažnai (80–99%) | 1 ligoje |
| SNORD115-1small nucleolar RNA, C/D box 115-1 | Labai dažnai (80–99%) | 1 ligoje |
| SNORD116-1small nucleolar RNA, C/D box 116-1 | Labai dažnai (80–99%) | 1 ligoje |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Labai dažnai (80–99%) | 2 ligose |
| SYN1synapsin I | Labai dažnai (80–99%) | 2 ligose |
| TCF4transcription factor 4 | Labai dažnai (80–99%) | 1 ligoje |
| TCTN3tectonic family member 3 | Labai dažnai (80–99%) | 1 ligoje |
| UBE3Bubiquitin protein ligase E3B | Labai dažnai (80–99%) | 1 ligoje |
| YY1AP1YY1 associated protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| ABCD1ATP binding cassette subfamily D member 1 | Dažnai (30–79%) | 1 ligoje |
| ADGRG1adhesion G protein-coupled receptor G1 | Dažnai (30–79%) | 1 ligoje |
| AFF2ALF transcription elongation factor 2 | Dažnai (30–79%) | 1 ligoje |
| ALMS1ALMS1 centrosome and basal body associated protein | Dažnai (30–79%) | 1 ligoje |
| AMACRalpha-methylacyl-CoA racemase | Dažnai (30–79%) | 1 ligoje |
| ARL6ARF like GTPase 6 | Dažnai (30–79%) | 2 ligose |
| ARVCFARVCF delta catenin family member | Dažnai (30–79%) | 1 ligoje |
| ASLargininosuccinate lyase | Dažnai (30–79%) | 1 ligoje |
| ASPAaspartoacylase | Dažnai (30–79%) | 1 ligoje |
| AUTS2activator of transcription and developmental regulator AUTS2 | Dažnai (30–79%) | 1 ligoje |
| BBIP1BBSome interacting protein 1 | Dažnai (30–79%) | 1 ligoje |
| BBS1Bardet-Biedl syndrome 1 | Dažnai (30–79%) | 2 ligose |
| BBS10Bardet-Biedl syndrome 10 | Dažnai (30–79%) | 1 ligoje |
| BBS12Bardet-Biedl syndrome 12 | Dažnai (30–79%) | 1 ligoje |
| BBS2Bardet-Biedl syndrome 2 | Dažnai (30–79%) | 1 ligoje |
| BBS4Bardet-Biedl syndrome 4 | Dažnai (30–79%) | 1 ligoje |
| BBS5Bardet-Biedl syndrome 5 | Dažnai (30–79%) | 1 ligoje |
| BBS7Bardet-Biedl syndrome 7 | Dažnai (30–79%) | 1 ligoje |
| BBS9Bardet-Biedl syndrome 9 | Dažnai (30–79%) | 1 ligoje |
| CBLIFcobalamin binding intrinsic factor | Dažnai (30–79%) | 1 ligoje |
| CDK4cyclin dependent kinase 4 | Dažnai (30–79%) | 1 ligoje |
| CDONcell adhesion associated, oncogene regulated | Dažnai (30–79%) | 5 ligose |
| CEP19centrosomal protein 19 | Dažnai (30–79%) | 1 ligoje |
| CEP290centrosomal protein 290 | Dažnai (30–79%) | 1 ligoje |
| CFAP418cilia and flagella associated protein 418 | Dažnai (30–79%) | 1 ligoje |
| CLTCL1clathrin heavy chain like 1 | Dažnai (30–79%) | 1 ligoje |
| COMTcatechol-O-methyltransferase | Dažnai (30–79%) | 1 ligoje |
| CRIPTOcripto, EGF-CFC family member | Dažnai (30–79%) | 5 ligose |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Dažnai (30–79%) | 1 ligoje |
| DISP1dispatched RND transporter family member 1 | Dažnai (30–79%) | 5 ligose |
| DLL1delta like canonical Notch ligand 1 | Dažnai (30–79%) | 5 ligose |
| DPP9dipeptidyl peptidase 9 | Dažnai (30–79%) | 1 ligoje |
| DPYDdihydropyrimidine dehydrogenase | Dažnai (30–79%) | 1 ligoje |
| EXTL3exostosin like glycosyltransferase 3 | Dažnai (30–79%) | 1 ligoje |
| FANCFFA complementation group F | Dažnai (30–79%) | 1 ligoje |
| FGF8fibroblast growth factor 8 | Dažnai (30–79%) | 5 ligose |
| FGFR1fibroblast growth factor receptor 1 | Dažnai (30–79%) | 2 ligose |
| FIBPFGF1 intracellular binding protein | Dažnai (30–79%) | 1 ligoje |
| FOXH1forkhead box H1 | Dažnai (30–79%) | 5 ligose |
| FOXP2forkhead box P2 | Dažnai (30–79%) | 1 ligoje |
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Dažnai (30–79%) | 1 ligoje |
| GALTgalactose-1-phosphate uridylyltransferase | Dažnai (30–79%) | 1 ligoje |
| GAS1growth arrest specific 1 | Dažnai (30–79%) | 5 ligose |
| GDI1GDP dissociation inhibitor 1 | Dažnai (30–79%) | 1 ligoje |
| GLI2GLI family zinc finger 2 | Dažnai (30–79%) | 5 ligose |
| GLUD1glutamate dehydrogenase 1 | Dažnai (30–79%) | 1 ligoje |
| GP1BBglycoprotein Ib platelet subunit beta | Dažnai (30–79%) | 1 ligoje |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Dažnai (30–79%) | 1 ligoje |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Dažnai (30–79%) | 3 ligose |
| HIRAhistone cell cycle regulator | Dažnai (30–79%) | 1 ligoje |
| IFNGinterferon gamma | Dažnai (30–79%) | 2 ligose |
| IFT172intraflagellar transport 172 | Dažnai (30–79%) | 1 ligoje |
| IFT27intraflagellar transport 27 | Dažnai (30–79%) | 1 ligoje |
| IFT74intraflagellar transport 74 | Dažnai (30–79%) | 1 ligoje |
| JMJD1Cjumonji domain containing 1C | Dažnai (30–79%) | 1 ligoje |
| KIF11kinesin family member 11 | Dažnai (30–79%) | 1 ligoje |
| LAMP2lysosome associated membrane protein 2 | Dažnai (30–79%) | 1 ligoje |
| LTBP1latent transforming growth factor beta binding protein 1 | Dažnai (30–79%) | 1 ligoje |
| LZTFL1leucine zipper transcription factor like 1 | Dažnai (30–79%) | 1 ligoje |
| MAU2MAU2 sister chromatid cohesion factor | Dažnai (30–79%) | 1 ligoje |
| MED13Lmediator complex subunit 13L | Dažnai (30–79%) | 1 ligoje |
| MID1midline 1 | Dažnai (30–79%) | 1 ligoje |
| MKKSMKKS centrosomal shuttling protein | Dažnai (30–79%) | 1 ligoje |
| MKS1MKS transition zone complex subunit 1 | Dažnai (30–79%) | 1 ligoje |
| MORC2MORC family CW-type zinc finger 2 | Dažnai (30–79%) | 1 ligoje |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Dažnai (30–79%) | 1 ligoje |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Dažnai (30–79%) | 1 ligoje |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Dažnai (30–79%) | 1 ligoje |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Dažnai (30–79%) | 1 ligoje |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Dažnai (30–79%) | 1 ligoje |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Dažnai (30–79%) | 1 ligoje |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Dažnai (30–79%) | 1 ligoje |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Dažnai (30–79%) | 1 ligoje |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Dažnai (30–79%) | 1 ligoje |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Dažnai (30–79%) | 1 ligoje |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Dažnai (30–79%) | 1 ligoje |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Dažnai (30–79%) | 1 ligoje |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Dažnai (30–79%) | 1 ligoje |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Dažnai (30–79%) | 1 ligoje |
| MTORmechanistic target of rapamycin kinase | Dažnai (30–79%) | 1 ligoje |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Dažnai (30–79%) | 2 ligose |
| MYT1Lmyelin transcription factor 1 like | Dažnai (30–79%) | 1 ligoje |
| NDNnecdin, MAGE family member | Dažnai (30–79%) | 3 ligose |
| NODALnodal growth differentiation factor | Dažnai (30–79%) | 5 ligose |
| NPHP1nephrocystin 1 | Dažnai (30–79%) | 1 ligoje |
| NTRK1neurotrophic receptor tyrosine kinase 1 | Dažnai (30–79%) | 1 ligoje |
| OCA2OCA2 melanosomal transmembrane protein | Dažnai (30–79%) | 3 ligose |
| PI4KAphosphatidylinositol 4-kinase alpha | Dažnai (30–79%) | 1 ligoje |
| PIK3C2Aphosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | Dažnai (30–79%) | 1 ligoje |
| PLCH1phospholipase C eta 1 | Dažnai (30–79%) | 1 ligoje |
| PRKD1protein kinase D1 | Dažnai (30–79%) | 1 ligoje |
| PRMT7protein arginine methyltransferase 7 | Dažnai (30–79%) | 1 ligoje |
| PTCH1patched 1 | Dažnai (30–79%) | 5 ligose |
| RDH11retinol dehydrogenase 11 | Dažnai (30–79%) | 1 ligoje |
| RNF168ring finger protein 168 | Dažnai (30–79%) | 1 ligoje |
| RPS23ribosomal protein S23 | Dažnai (30–79%) | 1 ligoje |
| RREB1ras responsive element binding protein 1 | Dažnai (30–79%) | 1 ligoje |
| SCAPERS-phase cyclin A associated protein in the ER | Dažnai (30–79%) | 1 ligoje |
| SCLT1sodium channel and clathrin linker 1 | Dažnai (30–79%) | 1 ligoje |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Dažnai (30–79%) | 1 ligoje |
| SEC24CSEC24 homolog C, COPII component | Dažnai (30–79%) | 1 ligoje |
| SH2B1SH2B adaptor protein 1 | Dažnai (30–79%) | 1 ligoje |
| SHHsonic hedgehog signaling molecule | Dažnai (30–79%) | 6 ligose |
| SIM1SIM bHLH transcription factor 1 | Dažnai (30–79%) | 2 ligose |
| SIX3SIX homeobox 3 | Dažnai (30–79%) | 5 ligose |
| SLC25A15solute carrier family 25 member 15 | Dažnai (30–79%) | 2 ligose |
| SMC1Astructural maintenance of chromosomes 1A | Dažnai (30–79%) | 1 ligoje |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Dažnai (30–79%) | 3 ligose |
| SPARTspartin | Dažnai (30–79%) | 1 ligoje |
| SPRED1sprouty related EVH1 domain containing 1 | Dažnai (30–79%) | 2 ligose |
| SRPX2sushi repeat containing protein X-linked 2 | Dažnai (30–79%) | 3 ligose |
| STAG2STAG2 cohesin complex component | Dažnai (30–79%) | 2 ligose |
| STILSTIL centriolar assembly protein | Dažnai (30–79%) | 5 ligose |
| TBX1T-box transcription factor 1 | Dažnai (30–79%) | 3 ligose |
| TGIF1TGFB induced factor homeobox 1 | Dažnai (30–79%) | 5 ligose |
| THRBthyroid hormone receptor beta | Dažnai (30–79%) | 1 ligoje |
| TRIM32tripartite motif containing 32 | Dažnai (30–79%) | 1 ligoje |
| TSC1TSC complex subunit 1 | Dažnai (30–79%) | 2 ligose |
| TSC2TSC complex subunit 2 | Dažnai (30–79%) | 2 ligose |
| TTC8tetratricopeptide repeat domain 8 | Dažnai (30–79%) | 1 ligoje |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Dažnai (30–79%) | 1 ligoje |
| WASWASP actin nucleation promoting factor | Dažnai (30–79%) | 1 ligoje |
| WDPCPWD repeat containing planar cell polarity effector | Dažnai (30–79%) | 1 ligoje |
| ZIC2Zic family zinc finger 2 | Dažnai (30–79%) | 5 ligose |
| ALDOAaldolase, fructose-bisphosphate A | Kartais (5–29%) | 1 ligoje |
| ALPK3alpha kinase 3 | Kartais (5–29%) | 1 ligoje |
| AMER1APC membrane recruitment protein 1 | Kartais (5–29%) | 1 ligoje |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Kartais (5–29%) | 1 ligoje |
| CA2carbonic anhydrase 2 | Kartais (5–29%) | 1 ligoje |
| CACNA1Hcalcium voltage-gated channel subunit alpha1 H | Kartais (5–29%) | 1 ligoje |
| CBLCbl proto-oncogene | Kartais (5–29%) | 1 ligoje |
| CBScystathionine beta-synthase | Kartais (5–29%) | 1 ligoje |
| CDC45cell division cycle 45 | Kartais (5–29%) | 1 ligoje |
| CDC6cell division cycle 6 | Kartais (5–29%) | 1 ligoje |
| CDT1chromatin licensing and DNA replication factor 1 | Kartais (5–29%) | 1 ligoje |
| CHRNA7cholinergic receptor nicotinic alpha 7 subunit | Kartais (5–29%) | 1 ligoje |
| CHSY1chondroitin sulfate synthase 1 | Kartais (5–29%) | 1 ligoje |
| COX7Bcytochrome c oxidase subunit 7B | Kartais (5–29%) | 1 ligoje |
| CTNNB1catenin beta 1 | Kartais (5–29%) | 1 ligoje |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Kartais (5–29%) | 1 ligoje |
| DCCDCC netrin 1 receptor | Kartais (5–29%) | 1 ligoje |
| DNAL4dynein axonemal light chain 4 | Kartais (5–29%) | 1 ligoje |
| DTNAdystrobrevin alpha | Kartais (5–29%) | 1 ligoje |
| DVL1dishevelled segment polarity protein 1 | Kartais (5–29%) | 1 ligoje |
| DVL3dishevelled segment polarity protein 3 | Kartais (5–29%) | 1 ligoje |
| EFHC1EF-hand domain containing 1 | Kartais (5–29%) | 1 ligoje |
| EIF4A3eukaryotic translation initiation factor 4A3 | Kartais (5–29%) | 1 ligoje |
| FBXW7F-box and WD repeat domain containing 7 | Kartais (5–29%) | 1 ligoje |
| FLT4fms related receptor tyrosine kinase 4 | Kartais (5–29%) | 1 ligoje |
| FZD2frizzled class receptor 2 | Kartais (5–29%) | 1 ligoje |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Kartais (5–29%) | 1 ligoje |
| GABRB3gamma-aminobutyric acid type A receptor subunit beta3 | Kartais (5–29%) | 1 ligoje |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Kartais (5–29%) | 2 ligose |
| GMNNgeminin DNA replication inhibitor | Kartais (5–29%) | 1 ligoje |
| GRB10growth factor receptor bound protein 10 | Kartais (5–29%) | 1 ligoje |
| H19H19 imprinted maternally expressed transcript | Kartais (5–29%) | 1 ligoje |
| HCCSholocytochrome c synthase | Kartais (5–29%) | 1 ligoje |
| HDAC8histone deacetylase 8 | Kartais (5–29%) | 1 ligoje |
| HPD4-hydroxyphenylpyruvate dioxygenase | Kartais (5–29%) | 1 ligoje |
| IGF2insulin like growth factor 2 | Kartais (5–29%) | 1 ligoje |
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Kartais (5–29%) | 1 ligoje |
| IRF6interferon regulatory factor 6 | Kartais (5–29%) | 2 ligose |
| JRKJrk helix-turn-helix protein | Kartais (5–29%) | 1 ligoje |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Kartais (5–29%) | 1 ligoje |
| KCNJ2potassium inwardly rectifying channel subfamily J member 2 | Kartais (5–29%) | 2 ligose |
| KCNJ5potassium inwardly rectifying channel subfamily J member 5 | Kartais (5–29%) | 1 ligoje |
| KDM2Blysine demethylase 2B | Kartais (5–29%) | 1 ligoje |
| KLF13KLF transcription factor 13 | Kartais (5–29%) | 1 ligoje |
| KRASKRas proto-oncogene, GTPase | Kartais (5–29%) | 1 ligoje |
| LAS1LLAS1 like ribosome biogenesis factor | Kartais (5–29%) | 1 ligoje |
| LYSTlysosomal trafficking regulator | Kartais (5–29%) | 1 ligoje |
| LZTR1leucine zipper like post translational regulator 1 | Kartais (5–29%) | 1 ligoje |
| MRASmuscle RAS oncogene homolog | Kartais (5–29%) | 1 ligoje |
| MTHFRmethylenetetrahydrofolate reductase | Kartais (5–29%) | 1 ligoje |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Kartais (5–29%) | 1 ligoje |
| NRASNRAS proto-oncogene, GTPase | Kartais (5–29%) | 1 ligoje |
| NTN1netrin 1 | Kartais (5–29%) | 1 ligoje |
| ORC1origin recognition complex subunit 1 | Kartais (5–29%) | 1 ligoje |
| ORC4origin recognition complex subunit 4 | Kartais (5–29%) | 1 ligoje |
| ORC6origin recognition complex subunit 6 | Kartais (5–29%) | 1 ligoje |
| OTCornithine transcarbamylase | Kartais (5–29%) | 1 ligoje |
| PRRT2proline rich transmembrane protein 2 | Kartais (5–29%) | 1 ligoje |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Kartais (5–29%) | 1 ligoje |
| RAD51RAD51 recombinase | Kartais (5–29%) | 1 ligoje |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Kartais (5–29%) | 1 ligoje |
| RASA2RAS p21 protein activator 2 | Kartais (5–29%) | 1 ligoje |
| RIT1Ras like without CAAX 1 | Kartais (5–29%) | 1 ligoje |
| RRASRAS related | Kartais (5–29%) | 1 ligoje |
| RRAS2RAS related 2 | Kartais (5–29%) | 1 ligoje |
| SBF2SET binding factor 2 | Kartais (5–29%) | 1 ligoje |
| SLC2A1solute carrier family 2 member 1 | Kartais (5–29%) | 2 ligose |
| SLC2A10solute carrier family 2 member 10 | Kartais (5–29%) | 1 ligoje |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Kartais (5–29%) | 1 ligoje |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Kartais (5–29%) | 1 ligoje |
| SPRED2sprouty related EVH1 domain containing 2 | Kartais (5–29%) | 1 ligoje |
| SUGCTsuccinyl-CoA:glutarate-CoA transferase | Kartais (5–29%) | 1 ligoje |
| THOC6THO complex subunit 6 | Kartais (5–29%) | 1 ligoje |
| TMEM63Atransmembrane protein 63A | Kartais (5–29%) | 1 ligoje |
| TRIOtrio Rho guanine nucleotide exchange factor | Kartais (5–29%) | 1 ligoje |
| TUBB3tubulin beta 3 class III | Kartais (5–29%) | 1 ligoje |
| WNT5AWnt family member 5A | Kartais (5–29%) | 1 ligoje |
| ZFYVE26zinc finger FYVE-type containing 26 | Kartais (5–29%) | 1 ligoje |
| HALhistidine ammonia-lyase | Retai (1–4 %) | 1 ligoje |
| HINT1histidine triad nucleotide binding protein 1 | Retai (1–4 %) | 1 ligoje |
| MSX1msh homeobox 1 | Retai (1–4 %) | 1 ligoje |
| NECTIN1nectin cell adhesion molecule 1 | Retai (1–4 %) | 1 ligoje |
| SMPD1sphingomyelin phosphodiesterase 1 | Retai (1–4 %) | 1 ligoje |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Retai (1–4 %) | 1 ligoje |
| TAF11TATA-box binding protein associated factor 11 | Retai (1–4 %) | 1 ligoje |
| TP63tumor protein p63 | Retai (1–4 %) | 1 ligoje |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Neužfiksuota | 1 ligoje |
| APTXaprataxin | Neužfiksuota | 1 ligoje |
| ARXaristaless related homeobox | Neužfiksuota | 1 ligoje |
| BLMBLM RecQ like helicase | Neužfiksuota | 1 ligoje |
| CCDC28Bcoiled-coil domain containing 28B | Neužfiksuota | 1 ligoje |
| COQ2coenzyme Q2, polyprenyltransferase | Neužfiksuota | 1 ligoje |
| DGCR2DiGeorge syndrome critical region gene 2 | Neužfiksuota | 1 ligoje |
| DGCR6DiGeorge syndrome critical region gene 6 | Neužfiksuota | 1 ligoje |
| DGCR8DGCR8 microprocessor complex subunit | Neužfiksuota | 1 ligoje |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Neužfiksuota | 1 ligoje |
| ESS2ess-2 spliceosome associated protein | Neužfiksuota | 1 ligoje |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Neužfiksuota | 1 ligoje |
| JAG1jagged canonical Notch ligand 1 | Neužfiksuota | 1 ligoje |
| PIGHphosphatidylinositol glycan anchor biosynthesis class H | Neužfiksuota | 1 ligoje |
| SBDSSBDS ribosome maturation factor | Neužfiksuota | 1 ligoje |
| SIX6SIX homeobox 6 | Neužfiksuota | 1 ligoje |
| SOX2SRY-box transcription factor 2 | Neužfiksuota | 1 ligoje |
| SRP54signal recognition particle 54 | Neužfiksuota | 1 ligoje |
| TERCtelomerase RNA component | Neužfiksuota | 1 ligoje |
| TERTtelomerase reverse transcriptase | Neužfiksuota | 1 ligoje |
| TINF2TERF1 interacting nuclear factor 2 | Neužfiksuota | 1 ligoje |
| TUBB2Btubulin beta 2B class IIb | Neužfiksuota | 1 ligoje |
| TUBB4Atubulin beta 4A class IVa | Neužfiksuota | 1 ligoje |
| TWNKtwinkle mtDNA helicase | Neužfiksuota | 1 ligoje |
| WDR1WD repeat domain 1 | 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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Iš kur tai žinoma
- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
- Duomenų leidimas 2026.10.16-c6eea6bf.
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