Piirre
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.
Yhteenveto
- Elimistön järjestelmä
- Abnormality of the nervous system
ViitegenomiGRCh38hg38
Geenien ja varianttien sivujen sijainnit noudattavat tätä valintaa tässä selaimessa.
Read the genes linked to Specific learning disability, and the rest of your genome, with one test.
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Tilaa Genome Test298 geeniä, jotka liittyvät piirteeseen Specific learning disability
Näiden geenien muutokset aiheuttavat harvinaisia sairauksia, joissa Specific learning disability esiintyy. Useimmilla, joilla on tämä piirre, ei ole mitään näistä sairauksista, eikä tämän listan geeni kerro mitään kenenkään omasta genomista.
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| FARSBphenylalanyl-tRNA synthetase subunit beta | Aina | 1 sairaudessa |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Aina | 1 sairaudessa |
| MICU1mitochondrial calcium uptake 1 | Aina | 1 sairaudessa |
| PAPPA2pappalysin 2 | Aina | 1 sairaudessa |
| PCGF2polycomb group ring finger 2 | Aina | 1 sairaudessa |
| SKOR2SKI family transcriptional corepressor 2 | Aina | 1 sairaudessa |
| SRSF1serine and arginine rich splicing factor 1 | Aina | 1 sairaudessa |
| TMEM94transmembrane protein 94 | Aina | 1 sairaudessa |
| ACTBactin beta | Hyvin usein (80–99%) | 1 sairaudessa |
| ACTG1actin gamma 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| ATP7AATPase copper transporting alpha | Hyvin usein (80–99%) | 1 sairaudessa |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| CKAP2Lcytoskeleton associated protein 2L | Hyvin usein (80–99%) | 1 sairaudessa |
| COL4A1collagen type IV alpha 1 chain | Hyvin usein (80–99%) | 1 sairaudessa |
| CRPPACDP-L-ribitol pyrophosphorylase A | Hyvin usein (80–99%) | 1 sairaudessa |
| DAG1dystroglycan 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| DMDdystrophin | Hyvin usein (80–99%) | 1 sairaudessa |
| EBF3EBF transcription factor 3 | Hyvin usein (80–99%) | 1 sairaudessa |
| EHMT1euchromatic histone lysine methyltransferase 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| FKRPfukutin related protein | Hyvin usein (80–99%) | 1 sairaudessa |
| FKTNfukutin | Hyvin usein (80–99%) | 1 sairaudessa |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| HMGA2high mobility group AT-hook 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| KAT6Blysine acetyltransferase 6B | Hyvin usein (80–99%) | 1 sairaudessa |
| KIFBPkinesin family binding protein | Hyvin usein (80–99%) | 1 sairaudessa |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| LEMD3LEM domain containing 3 | Hyvin usein (80–99%) | 1 sairaudessa |
| LTBP4latent transforming growth factor beta binding protein 4 | Hyvin usein (80–99%) | 1 sairaudessa |
| MAGEL2MAGE family member L2 | Hyvin usein (80–99%) | 5 sairaudessa |
| MAN2B1mannosidase alpha class 2B member 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| MAP2K2mitogen-activated protein kinase kinase 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| MKRN3makorin ring finger protein 3 | Hyvin usein (80–99%) | 1 sairaudessa |
| MYO5Amyosin VA | Hyvin usein (80–99%) | 1 sairaudessa |
| NF1neurofibromin 1 | Hyvin usein (80–99%) | 5 sairaudessa |
| NPAP1nuclear pore associated protein 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| NSD1nuclear receptor binding SET domain protein 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Hyvin usein (80–99%) | 1 sairaudessa |
Näytä 258 geeniä lisää
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Hyvin usein (80–99%) | 1 sairaudessa |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Hyvin usein (80–99%) | 1 sairaudessa |
| POMKprotein O-mannose kinase | Hyvin usein (80–99%) | 1 sairaudessa |
| POMT1protein O-mannosyltransferase 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| POMT2protein O-mannosyltransferase 2 | Hyvin usein (80–99%) | 2 sairaudessa |
| PRNPprion protein (Kanno blood group) | Hyvin usein (80–99%) | 1 sairaudessa |
| PTDSS1phosphatidylserine synthase 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| PWAR1Prader Willi/Angelman region RNA 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| PWRN1Prader-Willi region non-protein coding RNA 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| RNU4ATACRNA, U4atac small nuclear | Hyvin usein (80–99%) | 1 sairaudessa |
| RXYLT1ribitol xylosyltransferase 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| SC5Dsterol-C5-desaturase | Hyvin usein (80–99%) | 1 sairaudessa |
| SIL1SIL1 nucleotide exchange factor | Hyvin usein (80–99%) | 1 sairaudessa |
| SMAD4SMAD family member 4 | Hyvin usein (80–99%) | 1 sairaudessa |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| SNORD115-1small nucleolar RNA, C/D box 115-1 | Hyvin usein (80–99%) | 1 sairaudessa |
| SNORD116-1small nucleolar RNA, C/D box 116-1 | Hyvin usein (80–99%) | 1 sairaudessa |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Hyvin usein (80–99%) | 2 sairaudessa |
| SYN1synapsin I | Hyvin usein (80–99%) | 2 sairaudessa |
| TCF4transcription factor 4 | Hyvin usein (80–99%) | 1 sairaudessa |
| TCTN3tectonic family member 3 | Hyvin usein (80–99%) | 1 sairaudessa |
| UBE3Bubiquitin protein ligase E3B | Hyvin usein (80–99%) | 1 sairaudessa |
| YY1AP1YY1 associated protein 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| ABCD1ATP binding cassette subfamily D member 1 | Usein (30–79%) | 1 sairaudessa |
| ADGRG1adhesion G protein-coupled receptor G1 | Usein (30–79%) | 1 sairaudessa |
| AFF2ALF transcription elongation factor 2 | Usein (30–79%) | 1 sairaudessa |
| ALMS1ALMS1 centrosome and basal body associated protein | Usein (30–79%) | 1 sairaudessa |
| AMACRalpha-methylacyl-CoA racemase | Usein (30–79%) | 1 sairaudessa |
| ARL6ARF like GTPase 6 | Usein (30–79%) | 2 sairaudessa |
| ARVCFARVCF delta catenin family member | Usein (30–79%) | 1 sairaudessa |
| ASLargininosuccinate lyase | Usein (30–79%) | 1 sairaudessa |
| ASPAaspartoacylase | Usein (30–79%) | 1 sairaudessa |
| AUTS2activator of transcription and developmental regulator AUTS2 | Usein (30–79%) | 1 sairaudessa |
| BBIP1BBSome interacting protein 1 | Usein (30–79%) | 1 sairaudessa |
| BBS1Bardet-Biedl syndrome 1 | Usein (30–79%) | 2 sairaudessa |
| BBS10Bardet-Biedl syndrome 10 | Usein (30–79%) | 1 sairaudessa |
| BBS12Bardet-Biedl syndrome 12 | Usein (30–79%) | 1 sairaudessa |
| BBS2Bardet-Biedl syndrome 2 | Usein (30–79%) | 1 sairaudessa |
| BBS4Bardet-Biedl syndrome 4 | Usein (30–79%) | 1 sairaudessa |
| BBS5Bardet-Biedl syndrome 5 | Usein (30–79%) | 1 sairaudessa |
| BBS7Bardet-Biedl syndrome 7 | Usein (30–79%) | 1 sairaudessa |
| BBS9Bardet-Biedl syndrome 9 | Usein (30–79%) | 1 sairaudessa |
| CBLIFcobalamin binding intrinsic factor | Usein (30–79%) | 1 sairaudessa |
| CDK4cyclin dependent kinase 4 | Usein (30–79%) | 1 sairaudessa |
| CDONcell adhesion associated, oncogene regulated | Usein (30–79%) | 5 sairaudessa |
| CEP19centrosomal protein 19 | Usein (30–79%) | 1 sairaudessa |
| CEP290centrosomal protein 290 | Usein (30–79%) | 1 sairaudessa |
| CFAP418cilia and flagella associated protein 418 | Usein (30–79%) | 1 sairaudessa |
| CLTCL1clathrin heavy chain like 1 | Usein (30–79%) | 1 sairaudessa |
| COMTcatechol-O-methyltransferase | Usein (30–79%) | 1 sairaudessa |
| CRIPTOcripto, EGF-CFC family member | Usein (30–79%) | 5 sairaudessa |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Usein (30–79%) | 1 sairaudessa |
| DISP1dispatched RND transporter family member 1 | Usein (30–79%) | 5 sairaudessa |
| DLL1delta like canonical Notch ligand 1 | Usein (30–79%) | 5 sairaudessa |
| DPP9dipeptidyl peptidase 9 | Usein (30–79%) | 1 sairaudessa |
| DPYDdihydropyrimidine dehydrogenase | Usein (30–79%) | 1 sairaudessa |
| EXTL3exostosin like glycosyltransferase 3 | Usein (30–79%) | 1 sairaudessa |
| FANCFFA complementation group F | Usein (30–79%) | 1 sairaudessa |
| FGF8fibroblast growth factor 8 | Usein (30–79%) | 5 sairaudessa |
| FGFR1fibroblast growth factor receptor 1 | Usein (30–79%) | 2 sairaudessa |
| FIBPFGF1 intracellular binding protein | Usein (30–79%) | 1 sairaudessa |
| FOXH1forkhead box H1 | Usein (30–79%) | 5 sairaudessa |
| FOXP2forkhead box P2 | Usein (30–79%) | 1 sairaudessa |
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Usein (30–79%) | 1 sairaudessa |
| GALTgalactose-1-phosphate uridylyltransferase | Usein (30–79%) | 1 sairaudessa |
| GAS1growth arrest specific 1 | Usein (30–79%) | 5 sairaudessa |
| GDI1GDP dissociation inhibitor 1 | Usein (30–79%) | 1 sairaudessa |
| GLI2GLI family zinc finger 2 | Usein (30–79%) | 5 sairaudessa |
| GLUD1glutamate dehydrogenase 1 | Usein (30–79%) | 1 sairaudessa |
| GP1BBglycoprotein Ib platelet subunit beta | Usein (30–79%) | 1 sairaudessa |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Usein (30–79%) | 1 sairaudessa |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Usein (30–79%) | 3 sairaudessa |
| HIRAhistone cell cycle regulator | Usein (30–79%) | 1 sairaudessa |
| IFNGinterferon gamma | Usein (30–79%) | 2 sairaudessa |
| IFT172intraflagellar transport 172 | Usein (30–79%) | 1 sairaudessa |
| IFT27intraflagellar transport 27 | Usein (30–79%) | 1 sairaudessa |
| IFT74intraflagellar transport 74 | Usein (30–79%) | 1 sairaudessa |
| JMJD1Cjumonji domain containing 1C | Usein (30–79%) | 1 sairaudessa |
| KIF11kinesin family member 11 | Usein (30–79%) | 1 sairaudessa |
| LAMP2lysosome associated membrane protein 2 | Usein (30–79%) | 1 sairaudessa |
| LTBP1latent transforming growth factor beta binding protein 1 | Usein (30–79%) | 1 sairaudessa |
| LZTFL1leucine zipper transcription factor like 1 | Usein (30–79%) | 1 sairaudessa |
| MAU2MAU2 sister chromatid cohesion factor | Usein (30–79%) | 1 sairaudessa |
| MED13Lmediator complex subunit 13L | Usein (30–79%) | 1 sairaudessa |
| MID1midline 1 | Usein (30–79%) | 1 sairaudessa |
| MKKSMKKS centrosomal shuttling protein | Usein (30–79%) | 1 sairaudessa |
| MKS1MKS transition zone complex subunit 1 | Usein (30–79%) | 1 sairaudessa |
| MORC2MORC family CW-type zinc finger 2 | Usein (30–79%) | 1 sairaudessa |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Usein (30–79%) | 1 sairaudessa |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Usein (30–79%) | 1 sairaudessa |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Usein (30–79%) | 1 sairaudessa |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Usein (30–79%) | 1 sairaudessa |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Usein (30–79%) | 1 sairaudessa |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Usein (30–79%) | 1 sairaudessa |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Usein (30–79%) | 1 sairaudessa |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Usein (30–79%) | 1 sairaudessa |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Usein (30–79%) | 1 sairaudessa |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Usein (30–79%) | 1 sairaudessa |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Usein (30–79%) | 1 sairaudessa |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Usein (30–79%) | 1 sairaudessa |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Usein (30–79%) | 1 sairaudessa |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Usein (30–79%) | 1 sairaudessa |
| MTORmechanistic target of rapamycin kinase | Usein (30–79%) | 1 sairaudessa |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Usein (30–79%) | 2 sairaudessa |
| MYT1Lmyelin transcription factor 1 like | Usein (30–79%) | 1 sairaudessa |
| NDNnecdin, MAGE family member | Usein (30–79%) | 3 sairaudessa |
| NODALnodal growth differentiation factor | Usein (30–79%) | 5 sairaudessa |
| NPHP1nephrocystin 1 | Usein (30–79%) | 1 sairaudessa |
| NTRK1neurotrophic receptor tyrosine kinase 1 | Usein (30–79%) | 1 sairaudessa |
| OCA2OCA2 melanosomal transmembrane protein | Usein (30–79%) | 3 sairaudessa |
| PI4KAphosphatidylinositol 4-kinase alpha | Usein (30–79%) | 1 sairaudessa |
| PIK3C2Aphosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | Usein (30–79%) | 1 sairaudessa |
| PLCH1phospholipase C eta 1 | Usein (30–79%) | 1 sairaudessa |
| PRKD1protein kinase D1 | Usein (30–79%) | 1 sairaudessa |
| PRMT7protein arginine methyltransferase 7 | Usein (30–79%) | 1 sairaudessa |
| PTCH1patched 1 | Usein (30–79%) | 5 sairaudessa |
| RDH11retinol dehydrogenase 11 | Usein (30–79%) | 1 sairaudessa |
| RNF168ring finger protein 168 | Usein (30–79%) | 1 sairaudessa |
| RPS23ribosomal protein S23 | Usein (30–79%) | 1 sairaudessa |
| RREB1ras responsive element binding protein 1 | Usein (30–79%) | 1 sairaudessa |
| SCAPERS-phase cyclin A associated protein in the ER | Usein (30–79%) | 1 sairaudessa |
| SCLT1sodium channel and clathrin linker 1 | Usein (30–79%) | 1 sairaudessa |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Usein (30–79%) | 1 sairaudessa |
| SEC24CSEC24 homolog C, COPII component | Usein (30–79%) | 1 sairaudessa |
| SH2B1SH2B adaptor protein 1 | Usein (30–79%) | 1 sairaudessa |
| SHHsonic hedgehog signaling molecule | Usein (30–79%) | 6 sairaudessa |
| SIM1SIM bHLH transcription factor 1 | Usein (30–79%) | 2 sairaudessa |
| SIX3SIX homeobox 3 | Usein (30–79%) | 5 sairaudessa |
| SLC25A15solute carrier family 25 member 15 | Usein (30–79%) | 2 sairaudessa |
| SMC1Astructural maintenance of chromosomes 1A | Usein (30–79%) | 1 sairaudessa |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Usein (30–79%) | 3 sairaudessa |
| SPARTspartin | Usein (30–79%) | 1 sairaudessa |
| SPRED1sprouty related EVH1 domain containing 1 | Usein (30–79%) | 2 sairaudessa |
| SRPX2sushi repeat containing protein X-linked 2 | Usein (30–79%) | 3 sairaudessa |
| STAG2STAG2 cohesin complex component | Usein (30–79%) | 2 sairaudessa |
| STILSTIL centriolar assembly protein | Usein (30–79%) | 5 sairaudessa |
| TBX1T-box transcription factor 1 | Usein (30–79%) | 3 sairaudessa |
| TGIF1TGFB induced factor homeobox 1 | Usein (30–79%) | 5 sairaudessa |
| THRBthyroid hormone receptor beta | Usein (30–79%) | 1 sairaudessa |
| TRIM32tripartite motif containing 32 | Usein (30–79%) | 1 sairaudessa |
| TSC1TSC complex subunit 1 | Usein (30–79%) | 2 sairaudessa |
| TSC2TSC complex subunit 2 | Usein (30–79%) | 2 sairaudessa |
| TTC8tetratricopeptide repeat domain 8 | Usein (30–79%) | 1 sairaudessa |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Usein (30–79%) | 1 sairaudessa |
| WASWASP actin nucleation promoting factor | Usein (30–79%) | 1 sairaudessa |
| WDPCPWD repeat containing planar cell polarity effector | Usein (30–79%) | 1 sairaudessa |
| ZIC2Zic family zinc finger 2 | Usein (30–79%) | 5 sairaudessa |
| ALDOAaldolase, fructose-bisphosphate A | Joskus (5–29%) | 1 sairaudessa |
| ALPK3alpha kinase 3 | Joskus (5–29%) | 1 sairaudessa |
| AMER1APC membrane recruitment protein 1 | Joskus (5–29%) | 1 sairaudessa |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Joskus (5–29%) | 1 sairaudessa |
| CA2carbonic anhydrase 2 | Joskus (5–29%) | 1 sairaudessa |
| CACNA1Hcalcium voltage-gated channel subunit alpha1 H | Joskus (5–29%) | 1 sairaudessa |
| CBLCbl proto-oncogene | Joskus (5–29%) | 1 sairaudessa |
| CBScystathionine beta-synthase | Joskus (5–29%) | 1 sairaudessa |
| CDC45cell division cycle 45 | Joskus (5–29%) | 1 sairaudessa |
| CDC6cell division cycle 6 | Joskus (5–29%) | 1 sairaudessa |
| CDT1chromatin licensing and DNA replication factor 1 | Joskus (5–29%) | 1 sairaudessa |
| CHRNA7cholinergic receptor nicotinic alpha 7 subunit | Joskus (5–29%) | 1 sairaudessa |
| CHSY1chondroitin sulfate synthase 1 | Joskus (5–29%) | 1 sairaudessa |
| COX7Bcytochrome c oxidase subunit 7B | Joskus (5–29%) | 1 sairaudessa |
| CTNNB1catenin beta 1 | Joskus (5–29%) | 1 sairaudessa |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Joskus (5–29%) | 1 sairaudessa |
| DCCDCC netrin 1 receptor | Joskus (5–29%) | 1 sairaudessa |
| DNAL4dynein axonemal light chain 4 | Joskus (5–29%) | 1 sairaudessa |
| DTNAdystrobrevin alpha | Joskus (5–29%) | 1 sairaudessa |
| DVL1dishevelled segment polarity protein 1 | Joskus (5–29%) | 1 sairaudessa |
| DVL3dishevelled segment polarity protein 3 | Joskus (5–29%) | 1 sairaudessa |
| EFHC1EF-hand domain containing 1 | Joskus (5–29%) | 1 sairaudessa |
| EIF4A3eukaryotic translation initiation factor 4A3 | Joskus (5–29%) | 1 sairaudessa |
| FBXW7F-box and WD repeat domain containing 7 | Joskus (5–29%) | 1 sairaudessa |
| FLT4fms related receptor tyrosine kinase 4 | Joskus (5–29%) | 1 sairaudessa |
| FZD2frizzled class receptor 2 | Joskus (5–29%) | 1 sairaudessa |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Joskus (5–29%) | 1 sairaudessa |
| GABRB3gamma-aminobutyric acid type A receptor subunit beta3 | Joskus (5–29%) | 1 sairaudessa |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Joskus (5–29%) | 2 sairaudessa |
| GMNNgeminin DNA replication inhibitor | Joskus (5–29%) | 1 sairaudessa |
| GRB10growth factor receptor bound protein 10 | Joskus (5–29%) | 1 sairaudessa |
| H19H19 imprinted maternally expressed transcript | Joskus (5–29%) | 1 sairaudessa |
| HCCSholocytochrome c synthase | Joskus (5–29%) | 1 sairaudessa |
| HDAC8histone deacetylase 8 | Joskus (5–29%) | 1 sairaudessa |
| HPD4-hydroxyphenylpyruvate dioxygenase | Joskus (5–29%) | 1 sairaudessa |
| IGF2insulin like growth factor 2 | Joskus (5–29%) | 1 sairaudessa |
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Joskus (5–29%) | 1 sairaudessa |
| IRF6interferon regulatory factor 6 | Joskus (5–29%) | 2 sairaudessa |
| JRKJrk helix-turn-helix protein | Joskus (5–29%) | 1 sairaudessa |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Joskus (5–29%) | 1 sairaudessa |
| KCNJ2potassium inwardly rectifying channel subfamily J member 2 | Joskus (5–29%) | 2 sairaudessa |
| KCNJ5potassium inwardly rectifying channel subfamily J member 5 | Joskus (5–29%) | 1 sairaudessa |
| KDM2Blysine demethylase 2B | Joskus (5–29%) | 1 sairaudessa |
| KLF13KLF transcription factor 13 | Joskus (5–29%) | 1 sairaudessa |
| KRASKRas proto-oncogene, GTPase | Joskus (5–29%) | 1 sairaudessa |
| LAS1LLAS1 like ribosome biogenesis factor | Joskus (5–29%) | 1 sairaudessa |
| LYSTlysosomal trafficking regulator | Joskus (5–29%) | 1 sairaudessa |
| LZTR1leucine zipper like post translational regulator 1 | Joskus (5–29%) | 1 sairaudessa |
| MRASmuscle RAS oncogene homolog | Joskus (5–29%) | 1 sairaudessa |
| MTHFRmethylenetetrahydrofolate reductase | Joskus (5–29%) | 1 sairaudessa |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Joskus (5–29%) | 1 sairaudessa |
| NRASNRAS proto-oncogene, GTPase | Joskus (5–29%) | 1 sairaudessa |
| NTN1netrin 1 | Joskus (5–29%) | 1 sairaudessa |
| ORC1origin recognition complex subunit 1 | Joskus (5–29%) | 1 sairaudessa |
| ORC4origin recognition complex subunit 4 | Joskus (5–29%) | 1 sairaudessa |
| ORC6origin recognition complex subunit 6 | Joskus (5–29%) | 1 sairaudessa |
| OTCornithine transcarbamylase | Joskus (5–29%) | 1 sairaudessa |
| PRRT2proline rich transmembrane protein 2 | Joskus (5–29%) | 1 sairaudessa |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Joskus (5–29%) | 1 sairaudessa |
| RAD51RAD51 recombinase | Joskus (5–29%) | 1 sairaudessa |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Joskus (5–29%) | 1 sairaudessa |
| RASA2RAS p21 protein activator 2 | Joskus (5–29%) | 1 sairaudessa |
| RIT1Ras like without CAAX 1 | Joskus (5–29%) | 1 sairaudessa |
| RRASRAS related | Joskus (5–29%) | 1 sairaudessa |
| RRAS2RAS related 2 | Joskus (5–29%) | 1 sairaudessa |
| SBF2SET binding factor 2 | Joskus (5–29%) | 1 sairaudessa |
| SLC2A1solute carrier family 2 member 1 | Joskus (5–29%) | 2 sairaudessa |
| SLC2A10solute carrier family 2 member 10 | Joskus (5–29%) | 1 sairaudessa |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Joskus (5–29%) | 1 sairaudessa |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Joskus (5–29%) | 1 sairaudessa |
| SPRED2sprouty related EVH1 domain containing 2 | Joskus (5–29%) | 1 sairaudessa |
| SUGCTsuccinyl-CoA:glutarate-CoA transferase | Joskus (5–29%) | 1 sairaudessa |
| THOC6THO complex subunit 6 | Joskus (5–29%) | 1 sairaudessa |
| TMEM63Atransmembrane protein 63A | Joskus (5–29%) | 1 sairaudessa |
| TRIOtrio Rho guanine nucleotide exchange factor | Joskus (5–29%) | 1 sairaudessa |
| TUBB3tubulin beta 3 class III | Joskus (5–29%) | 1 sairaudessa |
| WNT5AWnt family member 5A | Joskus (5–29%) | 1 sairaudessa |
| ZFYVE26zinc finger FYVE-type containing 26 | Joskus (5–29%) | 1 sairaudessa |
| HALhistidine ammonia-lyase | Harvinainen (1–4 %) | 1 sairaudessa |
| HINT1histidine triad nucleotide binding protein 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| MSX1msh homeobox 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| NECTIN1nectin cell adhesion molecule 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| SMPD1sphingomyelin phosphodiesterase 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Harvinainen (1–4 %) | 1 sairaudessa |
| TAF11TATA-box binding protein associated factor 11 | Harvinainen (1–4 %) | 1 sairaudessa |
| TP63tumor protein p63 | Harvinainen (1–4 %) | 1 sairaudessa |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Ei kirjattu | 1 sairaudessa |
| APTXaprataxin | Ei kirjattu | 1 sairaudessa |
| ARXaristaless related homeobox | Ei kirjattu | 1 sairaudessa |
| BLMBLM RecQ like helicase | Ei kirjattu | 1 sairaudessa |
| CCDC28Bcoiled-coil domain containing 28B | Ei kirjattu | 1 sairaudessa |
| COQ2coenzyme Q2, polyprenyltransferase | Ei kirjattu | 1 sairaudessa |
| DGCR2DiGeorge syndrome critical region gene 2 | Ei kirjattu | 1 sairaudessa |
| DGCR6DiGeorge syndrome critical region gene 6 | Ei kirjattu | 1 sairaudessa |
| DGCR8DGCR8 microprocessor complex subunit | Ei kirjattu | 1 sairaudessa |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Ei kirjattu | 1 sairaudessa |
| ESS2ess-2 spliceosome associated protein | Ei kirjattu | 1 sairaudessa |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Ei kirjattu | 1 sairaudessa |
| JAG1jagged canonical Notch ligand 1 | Ei kirjattu | 1 sairaudessa |
| PIGHphosphatidylinositol glycan anchor biosynthesis class H | Ei kirjattu | 1 sairaudessa |
| SBDSSBDS ribosome maturation factor | Ei kirjattu | 1 sairaudessa |
| SIX6SIX homeobox 6 | Ei kirjattu | 1 sairaudessa |
| SOX2SRY-box transcription factor 2 | Ei kirjattu | 1 sairaudessa |
| SRP54signal recognition particle 54 | Ei kirjattu | 1 sairaudessa |
| TERCtelomerase RNA component | Ei kirjattu | 1 sairaudessa |
| TERTtelomerase reverse transcriptase | Ei kirjattu | 1 sairaudessa |
| TINF2TERF1 interacting nuclear factor 2 | Ei kirjattu | 1 sairaudessa |
| TUBB2Btubulin beta 2B class IIb | Ei kirjattu | 1 sairaudessa |
| TUBB4Atubulin beta 4A class IVa | Ei kirjattu | 1 sairaudessa |
| TWNKtwinkle mtDNA helicase | Ei kirjattu | 1 sairaudessa |
| WDR1WD repeat domain 1 | Ei kirjattu | 1 sairaudessa |
Kuinka usein ilmiö esiintyy ihmisillä, joilla on jokin geenin sairauksista, niin kuin Human Phenotype Ontology sen kirjaa. Nämä sivut kuvaavat piirteitä ja niiden taustalla olevaa tutkimusta, eivätkä ne ole diagnoosi. Oireista kannattaa kysyä lääkäriltä tai geneettiseltä neuvojalta.
Tarkemmat piirteet
Laajemmat piirteet
Mistä tämä tieto tulee
- Human Phenotype Ontology, julkaisu 2026-09-01: piirre, sen nimet, määritelmä ja siihen liitetyt geenit. Lue lisää osoitteesta hpo.jax.org.
- Tietojulkaisu 2026.10.16-c6eea6bf.
Yksi testi. Vastauksia koko elämäksi.
Alkaen 449 $Ilmainen toimitus · Tulokset 6–8 viikossa