Træk
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.
Resumé
- Kropssystem
- Abnormality of the nervous system
ReferencegenomGRCh38hg38
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Bestil min Genome Test298 gener knyttet til Specific learning disability
Ændringer i disse gener forårsager sjældne tilstande, hvor Specific learning disability ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| FARSBphenylalanyl-tRNA synthetase subunit beta | Altid | I 1 tilstand |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Altid | I 1 tilstand |
| MICU1mitochondrial calcium uptake 1 | Altid | I 1 tilstand |
| PAPPA2pappalysin 2 | Altid | I 1 tilstand |
| PCGF2polycomb group ring finger 2 | Altid | I 1 tilstand |
| SKOR2SKI family transcriptional corepressor 2 | Altid | I 1 tilstand |
| SRSF1serine and arginine rich splicing factor 1 | Altid | I 1 tilstand |
| TMEM94transmembrane protein 94 | Altid | I 1 tilstand |
| ACTBactin beta | Meget ofte (80–99 %) | I 1 tilstand |
| ACTG1actin gamma 1 | Meget ofte (80–99 %) | I 1 tilstand |
| ATP7AATPase copper transporting alpha | Meget ofte (80–99 %) | I 1 tilstand |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Meget ofte (80–99 %) | I 1 tilstand |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| CKAP2Lcytoskeleton associated protein 2L | Meget ofte (80–99 %) | I 1 tilstand |
| COL4A1collagen type IV alpha 1 chain | Meget ofte (80–99 %) | I 1 tilstand |
| CRPPACDP-L-ribitol pyrophosphorylase A | Meget ofte (80–99 %) | I 1 tilstand |
| DAG1dystroglycan 1 | Meget ofte (80–99 %) | I 1 tilstand |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Meget ofte (80–99 %) | I 1 tilstand |
| DMDdystrophin | Meget ofte (80–99 %) | I 1 tilstand |
| EBF3EBF transcription factor 3 | Meget ofte (80–99 %) | I 1 tilstand |
| EHMT1euchromatic histone lysine methyltransferase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| FKRPfukutin related protein | Meget ofte (80–99 %) | I 1 tilstand |
| FKTNfukutin | Meget ofte (80–99 %) | I 1 tilstand |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Meget ofte (80–99 %) | I 1 tilstand |
| HMGA2high mobility group AT-hook 2 | Meget ofte (80–99 %) | I 1 tilstand |
| KAT6Blysine acetyltransferase 6B | Meget ofte (80–99 %) | I 1 tilstand |
| KIFBPkinesin family binding protein | Meget ofte (80–99 %) | I 1 tilstand |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| LEMD3LEM domain containing 3 | Meget ofte (80–99 %) | I 1 tilstand |
| LTBP4latent transforming growth factor beta binding protein 4 | Meget ofte (80–99 %) | I 1 tilstand |
| MAGEL2MAGE family member L2 | Meget ofte (80–99 %) | I 5 tilstande |
| MAN2B1mannosidase alpha class 2B member 1 | Meget ofte (80–99 %) | I 1 tilstand |
| MAP2K2mitogen-activated protein kinase kinase 2 | Meget ofte (80–99 %) | I 1 tilstand |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Meget ofte (80–99 %) | I 1 tilstand |
| MKRN3makorin ring finger protein 3 | Meget ofte (80–99 %) | I 1 tilstand |
| MYO5Amyosin VA | Meget ofte (80–99 %) | I 1 tilstand |
| NF1neurofibromin 1 | Meget ofte (80–99 %) | I 5 tilstande |
| NPAP1nuclear pore associated protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| NSD1nuclear receptor binding SET domain protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Meget ofte (80–99 %) | I 1 tilstand |
Vis 258 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Meget ofte (80–99 %) | I 1 tilstand |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Meget ofte (80–99 %) | I 1 tilstand |
| POMKprotein O-mannose kinase | Meget ofte (80–99 %) | I 1 tilstand |
| POMT1protein O-mannosyltransferase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| POMT2protein O-mannosyltransferase 2 | Meget ofte (80–99 %) | I 2 tilstande |
| PRNPprion protein (Kanno blood group) | Meget ofte (80–99 %) | I 1 tilstand |
| PTDSS1phosphatidylserine synthase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| PWAR1Prader Willi/Angelman region RNA 1 | Meget ofte (80–99 %) | I 1 tilstand |
| PWRN1Prader-Willi region non-protein coding RNA 1 | Meget ofte (80–99 %) | I 1 tilstand |
| RNU4ATACRNA, U4atac small nuclear | Meget ofte (80–99 %) | I 1 tilstand |
| RXYLT1ribitol xylosyltransferase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| SC5Dsterol-C5-desaturase | Meget ofte (80–99 %) | I 1 tilstand |
| SIL1SIL1 nucleotide exchange factor | Meget ofte (80–99 %) | I 1 tilstand |
| SMAD4SMAD family member 4 | Meget ofte (80–99 %) | I 1 tilstand |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Meget ofte (80–99 %) | I 1 tilstand |
| SNORD115-1small nucleolar RNA, C/D box 115-1 | Meget ofte (80–99 %) | I 1 tilstand |
| SNORD116-1small nucleolar RNA, C/D box 116-1 | Meget ofte (80–99 %) | I 1 tilstand |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Meget ofte (80–99 %) | I 2 tilstande |
| SYN1synapsin I | Meget ofte (80–99 %) | I 2 tilstande |
| TCF4transcription factor 4 | Meget ofte (80–99 %) | I 1 tilstand |
| TCTN3tectonic family member 3 | Meget ofte (80–99 %) | I 1 tilstand |
| UBE3Bubiquitin protein ligase E3B | Meget ofte (80–99 %) | I 1 tilstand |
| YY1AP1YY1 associated protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| ABCD1ATP binding cassette subfamily D member 1 | Ofte (30–79 %) | I 1 tilstand |
| ADGRG1adhesion G protein-coupled receptor G1 | Ofte (30–79 %) | I 1 tilstand |
| AFF2ALF transcription elongation factor 2 | Ofte (30–79 %) | I 1 tilstand |
| ALMS1ALMS1 centrosome and basal body associated protein | Ofte (30–79 %) | I 1 tilstand |
| AMACRalpha-methylacyl-CoA racemase | Ofte (30–79 %) | I 1 tilstand |
| ARL6ARF like GTPase 6 | Ofte (30–79 %) | I 2 tilstande |
| ARVCFARVCF delta catenin family member | Ofte (30–79 %) | I 1 tilstand |
| ASLargininosuccinate lyase | Ofte (30–79 %) | I 1 tilstand |
| ASPAaspartoacylase | Ofte (30–79 %) | I 1 tilstand |
| AUTS2activator of transcription and developmental regulator AUTS2 | Ofte (30–79 %) | I 1 tilstand |
| BBIP1BBSome interacting protein 1 | Ofte (30–79 %) | I 1 tilstand |
| BBS1Bardet-Biedl syndrome 1 | Ofte (30–79 %) | I 2 tilstande |
| BBS10Bardet-Biedl syndrome 10 | Ofte (30–79 %) | I 1 tilstand |
| BBS12Bardet-Biedl syndrome 12 | Ofte (30–79 %) | I 1 tilstand |
| BBS2Bardet-Biedl syndrome 2 | Ofte (30–79 %) | I 1 tilstand |
| BBS4Bardet-Biedl syndrome 4 | Ofte (30–79 %) | I 1 tilstand |
| BBS5Bardet-Biedl syndrome 5 | Ofte (30–79 %) | I 1 tilstand |
| BBS7Bardet-Biedl syndrome 7 | Ofte (30–79 %) | I 1 tilstand |
| BBS9Bardet-Biedl syndrome 9 | Ofte (30–79 %) | I 1 tilstand |
| CBLIFcobalamin binding intrinsic factor | Ofte (30–79 %) | I 1 tilstand |
| CDK4cyclin dependent kinase 4 | Ofte (30–79 %) | I 1 tilstand |
| CDONcell adhesion associated, oncogene regulated | Ofte (30–79 %) | I 5 tilstande |
| CEP19centrosomal protein 19 | Ofte (30–79 %) | I 1 tilstand |
| CEP290centrosomal protein 290 | Ofte (30–79 %) | I 1 tilstand |
| CFAP418cilia and flagella associated protein 418 | Ofte (30–79 %) | I 1 tilstand |
| CLTCL1clathrin heavy chain like 1 | Ofte (30–79 %) | I 1 tilstand |
| COMTcatechol-O-methyltransferase | Ofte (30–79 %) | I 1 tilstand |
| CRIPTOcripto, EGF-CFC family member | Ofte (30–79 %) | I 5 tilstande |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Ofte (30–79 %) | I 1 tilstand |
| DISP1dispatched RND transporter family member 1 | Ofte (30–79 %) | I 5 tilstande |
| DLL1delta like canonical Notch ligand 1 | Ofte (30–79 %) | I 5 tilstande |
| DPP9dipeptidyl peptidase 9 | Ofte (30–79 %) | I 1 tilstand |
| DPYDdihydropyrimidine dehydrogenase | Ofte (30–79 %) | I 1 tilstand |
| EXTL3exostosin like glycosyltransferase 3 | Ofte (30–79 %) | I 1 tilstand |
| FANCFFA complementation group F | Ofte (30–79 %) | I 1 tilstand |
| FGF8fibroblast growth factor 8 | Ofte (30–79 %) | I 5 tilstande |
| FGFR1fibroblast growth factor receptor 1 | Ofte (30–79 %) | I 2 tilstande |
| FIBPFGF1 intracellular binding protein | Ofte (30–79 %) | I 1 tilstand |
| FOXH1forkhead box H1 | Ofte (30–79 %) | I 5 tilstande |
| FOXP2forkhead box P2 | Ofte (30–79 %) | I 1 tilstand |
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Ofte (30–79 %) | I 1 tilstand |
| GALTgalactose-1-phosphate uridylyltransferase | Ofte (30–79 %) | I 1 tilstand |
| GAS1growth arrest specific 1 | Ofte (30–79 %) | I 5 tilstande |
| GDI1GDP dissociation inhibitor 1 | Ofte (30–79 %) | I 1 tilstand |
| GLI2GLI family zinc finger 2 | Ofte (30–79 %) | I 5 tilstande |
| GLUD1glutamate dehydrogenase 1 | Ofte (30–79 %) | I 1 tilstand |
| GP1BBglycoprotein Ib platelet subunit beta | Ofte (30–79 %) | I 1 tilstand |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Ofte (30–79 %) | I 1 tilstand |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Ofte (30–79 %) | I 3 tilstande |
| HIRAhistone cell cycle regulator | Ofte (30–79 %) | I 1 tilstand |
| IFNGinterferon gamma | Ofte (30–79 %) | I 2 tilstande |
| IFT172intraflagellar transport 172 | Ofte (30–79 %) | I 1 tilstand |
| IFT27intraflagellar transport 27 | Ofte (30–79 %) | I 1 tilstand |
| IFT74intraflagellar transport 74 | Ofte (30–79 %) | I 1 tilstand |
| JMJD1Cjumonji domain containing 1C | Ofte (30–79 %) | I 1 tilstand |
| KIF11kinesin family member 11 | Ofte (30–79 %) | I 1 tilstand |
| LAMP2lysosome associated membrane protein 2 | Ofte (30–79 %) | I 1 tilstand |
| LTBP1latent transforming growth factor beta binding protein 1 | Ofte (30–79 %) | I 1 tilstand |
| LZTFL1leucine zipper transcription factor like 1 | Ofte (30–79 %) | I 1 tilstand |
| MAU2MAU2 sister chromatid cohesion factor | Ofte (30–79 %) | I 1 tilstand |
| MED13Lmediator complex subunit 13L | Ofte (30–79 %) | I 1 tilstand |
| MID1midline 1 | Ofte (30–79 %) | I 1 tilstand |
| MKKSMKKS centrosomal shuttling protein | Ofte (30–79 %) | I 1 tilstand |
| MKS1MKS transition zone complex subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| MORC2MORC family CW-type zinc finger 2 | Ofte (30–79 %) | I 1 tilstand |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Ofte (30–79 %) | I 1 tilstand |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Ofte (30–79 %) | I 1 tilstand |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Ofte (30–79 %) | I 1 tilstand |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Ofte (30–79 %) | I 1 tilstand |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Ofte (30–79 %) | I 1 tilstand |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Ofte (30–79 %) | I 1 tilstand |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Ofte (30–79 %) | I 1 tilstand |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Ofte (30–79 %) | I 1 tilstand |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Ofte (30–79 %) | I 1 tilstand |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Ofte (30–79 %) | I 1 tilstand |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Ofte (30–79 %) | I 1 tilstand |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Ofte (30–79 %) | I 1 tilstand |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Ofte (30–79 %) | I 1 tilstand |
| MTORmechanistic target of rapamycin kinase | Ofte (30–79 %) | I 1 tilstand |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Ofte (30–79 %) | I 2 tilstande |
| MYT1Lmyelin transcription factor 1 like | Ofte (30–79 %) | I 1 tilstand |
| NDNnecdin, MAGE family member | Ofte (30–79 %) | I 3 tilstande |
| NODALnodal growth differentiation factor | Ofte (30–79 %) | I 5 tilstande |
| NPHP1nephrocystin 1 | Ofte (30–79 %) | I 1 tilstand |
| NTRK1neurotrophic receptor tyrosine kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| OCA2OCA2 melanosomal transmembrane protein | Ofte (30–79 %) | I 3 tilstande |
| PI4KAphosphatidylinositol 4-kinase alpha | Ofte (30–79 %) | I 1 tilstand |
| PIK3C2Aphosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | Ofte (30–79 %) | I 1 tilstand |
| PLCH1phospholipase C eta 1 | Ofte (30–79 %) | I 1 tilstand |
| PRKD1protein kinase D1 | Ofte (30–79 %) | I 1 tilstand |
| PRMT7protein arginine methyltransferase 7 | Ofte (30–79 %) | I 1 tilstand |
| PTCH1patched 1 | Ofte (30–79 %) | I 5 tilstande |
| RDH11retinol dehydrogenase 11 | Ofte (30–79 %) | I 1 tilstand |
| RNF168ring finger protein 168 | Ofte (30–79 %) | I 1 tilstand |
| RPS23ribosomal protein S23 | Ofte (30–79 %) | I 1 tilstand |
| RREB1ras responsive element binding protein 1 | Ofte (30–79 %) | I 1 tilstand |
| SCAPERS-phase cyclin A associated protein in the ER | Ofte (30–79 %) | I 1 tilstand |
| SCLT1sodium channel and clathrin linker 1 | Ofte (30–79 %) | I 1 tilstand |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Ofte (30–79 %) | I 1 tilstand |
| SEC24CSEC24 homolog C, COPII component | Ofte (30–79 %) | I 1 tilstand |
| SH2B1SH2B adaptor protein 1 | Ofte (30–79 %) | I 1 tilstand |
| SHHsonic hedgehog signaling molecule | Ofte (30–79 %) | I 6 tilstande |
| SIM1SIM bHLH transcription factor 1 | Ofte (30–79 %) | I 2 tilstande |
| SIX3SIX homeobox 3 | Ofte (30–79 %) | I 5 tilstande |
| SLC25A15solute carrier family 25 member 15 | Ofte (30–79 %) | I 2 tilstande |
| SMC1Astructural maintenance of chromosomes 1A | Ofte (30–79 %) | I 1 tilstand |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Ofte (30–79 %) | I 3 tilstande |
| SPARTspartin | Ofte (30–79 %) | I 1 tilstand |
| SPRED1sprouty related EVH1 domain containing 1 | Ofte (30–79 %) | I 2 tilstande |
| SRPX2sushi repeat containing protein X-linked 2 | Ofte (30–79 %) | I 3 tilstande |
| STAG2STAG2 cohesin complex component | Ofte (30–79 %) | I 2 tilstande |
| STILSTIL centriolar assembly protein | Ofte (30–79 %) | I 5 tilstande |
| TBX1T-box transcription factor 1 | Ofte (30–79 %) | I 3 tilstande |
| TGIF1TGFB induced factor homeobox 1 | Ofte (30–79 %) | I 5 tilstande |
| THRBthyroid hormone receptor beta | Ofte (30–79 %) | I 1 tilstand |
| TRIM32tripartite motif containing 32 | Ofte (30–79 %) | I 1 tilstand |
| TSC1TSC complex subunit 1 | Ofte (30–79 %) | I 2 tilstande |
| TSC2TSC complex subunit 2 | Ofte (30–79 %) | I 2 tilstande |
| TTC8tetratricopeptide repeat domain 8 | Ofte (30–79 %) | I 1 tilstand |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Ofte (30–79 %) | I 1 tilstand |
| WASWASP actin nucleation promoting factor | Ofte (30–79 %) | I 1 tilstand |
| WDPCPWD repeat containing planar cell polarity effector | Ofte (30–79 %) | I 1 tilstand |
| ZIC2Zic family zinc finger 2 | Ofte (30–79 %) | I 5 tilstande |
| ALDOAaldolase, fructose-bisphosphate A | Nogle gange (5–29 %) | I 1 tilstand |
| ALPK3alpha kinase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| AMER1APC membrane recruitment protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Nogle gange (5–29 %) | I 1 tilstand |
| CA2carbonic anhydrase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| CACNA1Hcalcium voltage-gated channel subunit alpha1 H | Nogle gange (5–29 %) | I 1 tilstand |
| CBLCbl proto-oncogene | Nogle gange (5–29 %) | I 1 tilstand |
| CBScystathionine beta-synthase | Nogle gange (5–29 %) | I 1 tilstand |
| CDC45cell division cycle 45 | Nogle gange (5–29 %) | I 1 tilstand |
| CDC6cell division cycle 6 | Nogle gange (5–29 %) | I 1 tilstand |
| CDT1chromatin licensing and DNA replication factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CHRNA7cholinergic receptor nicotinic alpha 7 subunit | Nogle gange (5–29 %) | I 1 tilstand |
| CHSY1chondroitin sulfate synthase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| COX7Bcytochrome c oxidase subunit 7B | Nogle gange (5–29 %) | I 1 tilstand |
| CTNNB1catenin beta 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Nogle gange (5–29 %) | I 1 tilstand |
| DCCDCC netrin 1 receptor | Nogle gange (5–29 %) | I 1 tilstand |
| DNAL4dynein axonemal light chain 4 | Nogle gange (5–29 %) | I 1 tilstand |
| DTNAdystrobrevin alpha | Nogle gange (5–29 %) | I 1 tilstand |
| DVL1dishevelled segment polarity protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DVL3dishevelled segment polarity protein 3 | Nogle gange (5–29 %) | I 1 tilstand |
| EFHC1EF-hand domain containing 1 | Nogle gange (5–29 %) | I 1 tilstand |
| EIF4A3eukaryotic translation initiation factor 4A3 | Nogle gange (5–29 %) | I 1 tilstand |
| FBXW7F-box and WD repeat domain containing 7 | Nogle gange (5–29 %) | I 1 tilstand |
| FLT4fms related receptor tyrosine kinase 4 | Nogle gange (5–29 %) | I 1 tilstand |
| FZD2frizzled class receptor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Nogle gange (5–29 %) | I 1 tilstand |
| GABRB3gamma-aminobutyric acid type A receptor subunit beta3 | Nogle gange (5–29 %) | I 1 tilstand |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Nogle gange (5–29 %) | I 2 tilstande |
| GMNNgeminin DNA replication inhibitor | Nogle gange (5–29 %) | I 1 tilstand |
| GRB10growth factor receptor bound protein 10 | Nogle gange (5–29 %) | I 1 tilstand |
| H19H19 imprinted maternally expressed transcript | Nogle gange (5–29 %) | I 1 tilstand |
| HCCSholocytochrome c synthase | Nogle gange (5–29 %) | I 1 tilstand |
| HDAC8histone deacetylase 8 | Nogle gange (5–29 %) | I 1 tilstand |
| HPD4-hydroxyphenylpyruvate dioxygenase | Nogle gange (5–29 %) | I 1 tilstand |
| IGF2insulin like growth factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Nogle gange (5–29 %) | I 1 tilstand |
| IRF6interferon regulatory factor 6 | Nogle gange (5–29 %) | I 2 tilstande |
| JRKJrk helix-turn-helix protein | Nogle gange (5–29 %) | I 1 tilstand |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNJ2potassium inwardly rectifying channel subfamily J member 2 | Nogle gange (5–29 %) | I 2 tilstande |
| KCNJ5potassium inwardly rectifying channel subfamily J member 5 | Nogle gange (5–29 %) | I 1 tilstand |
| KDM2Blysine demethylase 2B | Nogle gange (5–29 %) | I 1 tilstand |
| KLF13KLF transcription factor 13 | Nogle gange (5–29 %) | I 1 tilstand |
| KRASKRas proto-oncogene, GTPase | Nogle gange (5–29 %) | I 1 tilstand |
| LAS1LLAS1 like ribosome biogenesis factor | Nogle gange (5–29 %) | I 1 tilstand |
| LYSTlysosomal trafficking regulator | Nogle gange (5–29 %) | I 1 tilstand |
| LZTR1leucine zipper like post translational regulator 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MRASmuscle RAS oncogene homolog | Nogle gange (5–29 %) | I 1 tilstand |
| MTHFRmethylenetetrahydrofolate reductase | Nogle gange (5–29 %) | I 1 tilstand |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Nogle gange (5–29 %) | I 1 tilstand |
| NRASNRAS proto-oncogene, GTPase | Nogle gange (5–29 %) | I 1 tilstand |
| NTN1netrin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ORC1origin recognition complex subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ORC4origin recognition complex subunit 4 | Nogle gange (5–29 %) | I 1 tilstand |
| ORC6origin recognition complex subunit 6 | Nogle gange (5–29 %) | I 1 tilstand |
| OTCornithine transcarbamylase | Nogle gange (5–29 %) | I 1 tilstand |
| PRRT2proline rich transmembrane protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Nogle gange (5–29 %) | I 1 tilstand |
| RAD51RAD51 recombinase | Nogle gange (5–29 %) | I 1 tilstand |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Nogle gange (5–29 %) | I 1 tilstand |
| RASA2RAS p21 protein activator 2 | Nogle gange (5–29 %) | I 1 tilstand |
| RIT1Ras like without CAAX 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RRASRAS related | Nogle gange (5–29 %) | I 1 tilstand |
| RRAS2RAS related 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SBF2SET binding factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC2A1solute carrier family 2 member 1 | Nogle gange (5–29 %) | I 2 tilstande |
| SLC2A10solute carrier family 2 member 10 | Nogle gange (5–29 %) | I 1 tilstand |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SPRED2sprouty related EVH1 domain containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SUGCTsuccinyl-CoA:glutarate-CoA transferase | Nogle gange (5–29 %) | I 1 tilstand |
| THOC6THO complex subunit 6 | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM63Atransmembrane protein 63A | Nogle gange (5–29 %) | I 1 tilstand |
| TRIOtrio Rho guanine nucleotide exchange factor | Nogle gange (5–29 %) | I 1 tilstand |
| TUBB3tubulin beta 3 class III | Nogle gange (5–29 %) | I 1 tilstand |
| WNT5AWnt family member 5A | Nogle gange (5–29 %) | I 1 tilstand |
| ZFYVE26zinc finger FYVE-type containing 26 | Nogle gange (5–29 %) | I 1 tilstand |
| HALhistidine ammonia-lyase | Sjældent (1–4%) | I 1 tilstand |
| HINT1histidine triad nucleotide binding protein 1 | Sjældent (1–4%) | I 1 tilstand |
| MSX1msh homeobox 1 | Sjældent (1–4%) | I 1 tilstand |
| NECTIN1nectin cell adhesion molecule 1 | Sjældent (1–4%) | I 1 tilstand |
| SMPD1sphingomyelin phosphodiesterase 1 | Sjældent (1–4%) | I 1 tilstand |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Sjældent (1–4%) | I 1 tilstand |
| TAF11TATA-box binding protein associated factor 11 | Sjældent (1–4%) | I 1 tilstand |
| TP63tumor protein p63 | Sjældent (1–4%) | I 1 tilstand |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Ikke registreret | I 1 tilstand |
| APTXaprataxin | Ikke registreret | I 1 tilstand |
| ARXaristaless related homeobox | Ikke registreret | I 1 tilstand |
| BLMBLM RecQ like helicase | Ikke registreret | I 1 tilstand |
| CCDC28Bcoiled-coil domain containing 28B | Ikke registreret | I 1 tilstand |
| COQ2coenzyme Q2, polyprenyltransferase | Ikke registreret | I 1 tilstand |
| DGCR2DiGeorge syndrome critical region gene 2 | Ikke registreret | I 1 tilstand |
| DGCR6DiGeorge syndrome critical region gene 6 | Ikke registreret | I 1 tilstand |
| DGCR8DGCR8 microprocessor complex subunit | Ikke registreret | I 1 tilstand |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Ikke registreret | I 1 tilstand |
| ESS2ess-2 spliceosome associated protein | Ikke registreret | I 1 tilstand |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Ikke registreret | I 1 tilstand |
| JAG1jagged canonical Notch ligand 1 | Ikke registreret | I 1 tilstand |
| PIGHphosphatidylinositol glycan anchor biosynthesis class H | Ikke registreret | I 1 tilstand |
| SBDSSBDS ribosome maturation factor | Ikke registreret | I 1 tilstand |
| SIX6SIX homeobox 6 | Ikke registreret | I 1 tilstand |
| SOX2SRY-box transcription factor 2 | Ikke registreret | I 1 tilstand |
| SRP54signal recognition particle 54 | Ikke registreret | I 1 tilstand |
| TERCtelomerase RNA component | Ikke registreret | I 1 tilstand |
| TERTtelomerase reverse transcriptase | Ikke registreret | I 1 tilstand |
| TINF2TERF1 interacting nuclear factor 2 | Ikke registreret | I 1 tilstand |
| TUBB2Btubulin beta 2B class IIb | Ikke registreret | I 1 tilstand |
| TUBB4Atubulin beta 4A class IVa | Ikke registreret | I 1 tilstand |
| TWNKtwinkle mtDNA helicase | Ikke registreret | I 1 tilstand |
| WDR1WD repeat domain 1 | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
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Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
Én test. Svar for hele livet.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger