Egenskap
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.
Sammendrag
- Kroppssystem
- Abnormality of the nervous system
ReferansegenomGRCh38hg38
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Endringer i disse genene forårsaker sjeldne tilstander der Specific learning disability forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| FARSBphenylalanyl-tRNA synthetase subunit beta | Alltid | I 1 tilstand |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Alltid | I 1 tilstand |
| MICU1mitochondrial calcium uptake 1 | Alltid | I 1 tilstand |
| PAPPA2pappalysin 2 | Alltid | I 1 tilstand |
| PCGF2polycomb group ring finger 2 | Alltid | I 1 tilstand |
| SKOR2SKI family transcriptional corepressor 2 | Alltid | I 1 tilstand |
| SRSF1serine and arginine rich splicing factor 1 | Alltid | I 1 tilstand |
| TMEM94transmembrane protein 94 | Alltid | I 1 tilstand |
| ACTBactin beta | Svært ofte (80–99 %) | I 1 tilstand |
| ACTG1actin gamma 1 | Svært ofte (80–99 %) | I 1 tilstand |
| ATP7AATPase copper transporting alpha | Svært ofte (80–99 %) | I 1 tilstand |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Svært ofte (80–99 %) | I 1 tilstand |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| CKAP2Lcytoskeleton associated protein 2L | Svært ofte (80–99 %) | I 1 tilstand |
| COL4A1collagen type IV alpha 1 chain | Svært ofte (80–99 %) | I 1 tilstand |
| CRPPACDP-L-ribitol pyrophosphorylase A | Svært ofte (80–99 %) | I 1 tilstand |
| DAG1dystroglycan 1 | Svært ofte (80–99 %) | I 1 tilstand |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Svært ofte (80–99 %) | I 1 tilstand |
| DMDdystrophin | Svært ofte (80–99 %) | I 1 tilstand |
| EBF3EBF transcription factor 3 | Svært ofte (80–99 %) | I 1 tilstand |
| EHMT1euchromatic histone lysine methyltransferase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| FKRPfukutin related protein | Svært ofte (80–99 %) | I 1 tilstand |
| FKTNfukutin | Svært ofte (80–99 %) | I 1 tilstand |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Svært ofte (80–99 %) | I 1 tilstand |
| HMGA2high mobility group AT-hook 2 | Svært ofte (80–99 %) | I 1 tilstand |
| KAT6Blysine acetyltransferase 6B | Svært ofte (80–99 %) | I 1 tilstand |
| KIFBPkinesin family binding protein | Svært ofte (80–99 %) | I 1 tilstand |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| LEMD3LEM domain containing 3 | Svært ofte (80–99 %) | I 1 tilstand |
| LTBP4latent transforming growth factor beta binding protein 4 | Svært ofte (80–99 %) | I 1 tilstand |
| MAGEL2MAGE family member L2 | Svært ofte (80–99 %) | I 5 tilstander |
| MAN2B1mannosidase alpha class 2B member 1 | Svært ofte (80–99 %) | I 1 tilstand |
| MAP2K2mitogen-activated protein kinase kinase 2 | Svært ofte (80–99 %) | I 1 tilstand |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Svært ofte (80–99 %) | I 1 tilstand |
| MKRN3makorin ring finger protein 3 | Svært ofte (80–99 %) | I 1 tilstand |
| MYO5Amyosin VA | Svært ofte (80–99 %) | I 1 tilstand |
| NF1neurofibromin 1 | Svært ofte (80–99 %) | I 5 tilstander |
| NPAP1nuclear pore associated protein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| NSD1nuclear receptor binding SET domain protein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Svært ofte (80–99 %) | I 1 tilstand |
Vis 258 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Svært ofte (80–99 %) | I 1 tilstand |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Svært ofte (80–99 %) | I 1 tilstand |
| POMKprotein O-mannose kinase | Svært ofte (80–99 %) | I 1 tilstand |
| POMT1protein O-mannosyltransferase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| POMT2protein O-mannosyltransferase 2 | Svært ofte (80–99 %) | I 2 tilstander |
| PRNPprion protein (Kanno blood group) | Svært ofte (80–99 %) | I 1 tilstand |
| PTDSS1phosphatidylserine synthase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| PWAR1Prader Willi/Angelman region RNA 1 | Svært ofte (80–99 %) | I 1 tilstand |
| PWRN1Prader-Willi region non-protein coding RNA 1 | Svært ofte (80–99 %) | I 1 tilstand |
| RNU4ATACRNA, U4atac small nuclear | Svært ofte (80–99 %) | I 1 tilstand |
| RXYLT1ribitol xylosyltransferase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| SC5Dsterol-C5-desaturase | Svært ofte (80–99 %) | I 1 tilstand |
| SIL1SIL1 nucleotide exchange factor | Svært ofte (80–99 %) | I 1 tilstand |
| SMAD4SMAD family member 4 | Svært ofte (80–99 %) | I 1 tilstand |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Svært ofte (80–99 %) | I 1 tilstand |
| SNORD115-1small nucleolar RNA, C/D box 115-1 | Svært ofte (80–99 %) | I 1 tilstand |
| SNORD116-1small nucleolar RNA, C/D box 116-1 | Svært ofte (80–99 %) | I 1 tilstand |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Svært ofte (80–99 %) | I 2 tilstander |
| SYN1synapsin I | Svært ofte (80–99 %) | I 2 tilstander |
| TCF4transcription factor 4 | Svært ofte (80–99 %) | I 1 tilstand |
| TCTN3tectonic family member 3 | Svært ofte (80–99 %) | I 1 tilstand |
| UBE3Bubiquitin protein ligase E3B | Svært ofte (80–99 %) | I 1 tilstand |
| YY1AP1YY1 associated protein 1 | Svært 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| DLL1delta like canonical Notch ligand 1 | Ofte (30–79 %) | I 5 tilstander |
| 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 tilstander |
| FGFR1fibroblast growth factor receptor 1 | Ofte (30–79 %) | I 2 tilstander |
| FIBPFGF1 intracellular binding protein | Ofte (30–79 %) | I 1 tilstand |
| FOXH1forkhead box H1 | Ofte (30–79 %) | I 5 tilstander |
| 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 tilstander |
| GDI1GDP dissociation inhibitor 1 | Ofte (30–79 %) | I 1 tilstand |
| GLI2GLI family zinc finger 2 | Ofte (30–79 %) | I 5 tilstander |
| 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 tilstander |
| HIRAhistone cell cycle regulator | Ofte (30–79 %) | I 1 tilstand |
| IFNGinterferon gamma | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| MYT1Lmyelin transcription factor 1 like | Ofte (30–79 %) | I 1 tilstand |
| NDNnecdin, MAGE family member | Ofte (30–79 %) | I 3 tilstander |
| NODALnodal growth differentiation factor | Ofte (30–79 %) | I 5 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| SIM1SIM bHLH transcription factor 1 | Ofte (30–79 %) | I 2 tilstander |
| SIX3SIX homeobox 3 | Ofte (30–79 %) | I 5 tilstander |
| SLC25A15solute carrier family 25 member 15 | Ofte (30–79 %) | I 2 tilstander |
| SMC1Astructural maintenance of chromosomes 1A | Ofte (30–79 %) | I 1 tilstand |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Ofte (30–79 %) | I 3 tilstander |
| SPARTspartin | Ofte (30–79 %) | I 1 tilstand |
| SPRED1sprouty related EVH1 domain containing 1 | Ofte (30–79 %) | I 2 tilstander |
| SRPX2sushi repeat containing protein X-linked 2 | Ofte (30–79 %) | I 3 tilstander |
| STAG2STAG2 cohesin complex component | Ofte (30–79 %) | I 2 tilstander |
| STILSTIL centriolar assembly protein | Ofte (30–79 %) | I 5 tilstander |
| TBX1T-box transcription factor 1 | Ofte (30–79 %) | I 3 tilstander |
| TGIF1TGFB induced factor homeobox 1 | Ofte (30–79 %) | I 5 tilstander |
| 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 tilstander |
| TSC2TSC complex subunit 2 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| ALDOAaldolase, fructose-bisphosphate A | Noen ganger (5–29 %) | I 1 tilstand |
| ALPK3alpha kinase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| AMER1APC membrane recruitment protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Noen ganger (5–29 %) | I 1 tilstand |
| CA2carbonic anhydrase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CACNA1Hcalcium voltage-gated channel subunit alpha1 H | Noen ganger (5–29 %) | I 1 tilstand |
| CBLCbl proto-oncogene | Noen ganger (5–29 %) | I 1 tilstand |
| CBScystathionine beta-synthase | Noen ganger (5–29 %) | I 1 tilstand |
| CDC45cell division cycle 45 | Noen ganger (5–29 %) | I 1 tilstand |
| CDC6cell division cycle 6 | Noen ganger (5–29 %) | I 1 tilstand |
| CDT1chromatin licensing and DNA replication factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CHRNA7cholinergic receptor nicotinic alpha 7 subunit | Noen ganger (5–29 %) | I 1 tilstand |
| CHSY1chondroitin sulfate synthase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| COX7Bcytochrome c oxidase subunit 7B | Noen ganger (5–29 %) | I 1 tilstand |
| CTNNB1catenin beta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Noen ganger (5–29 %) | I 1 tilstand |
| DCCDCC netrin 1 receptor | Noen ganger (5–29 %) | I 1 tilstand |
| DNAL4dynein axonemal light chain 4 | Noen ganger (5–29 %) | I 1 tilstand |
| DTNAdystrobrevin alpha | Noen ganger (5–29 %) | I 1 tilstand |
| DVL1dishevelled segment polarity protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DVL3dishevelled segment polarity protein 3 | Noen ganger (5–29 %) | I 1 tilstand |
| EFHC1EF-hand domain containing 1 | Noen ganger (5–29 %) | I 1 tilstand |
| EIF4A3eukaryotic translation initiation factor 4A3 | Noen ganger (5–29 %) | I 1 tilstand |
| FBXW7F-box and WD repeat domain containing 7 | Noen ganger (5–29 %) | I 1 tilstand |
| FLT4fms related receptor tyrosine kinase 4 | Noen ganger (5–29 %) | I 1 tilstand |
| FZD2frizzled class receptor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Noen ganger (5–29 %) | I 1 tilstand |
| GABRB3gamma-aminobutyric acid type A receptor subunit beta3 | Noen ganger (5–29 %) | I 1 tilstand |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Noen ganger (5–29 %) | I 2 tilstander |
| GMNNgeminin DNA replication inhibitor | Noen ganger (5–29 %) | I 1 tilstand |
| GRB10growth factor receptor bound protein 10 | Noen ganger (5–29 %) | I 1 tilstand |
| H19H19 imprinted maternally expressed transcript | Noen ganger (5–29 %) | I 1 tilstand |
| HCCSholocytochrome c synthase | Noen ganger (5–29 %) | I 1 tilstand |
| HDAC8histone deacetylase 8 | Noen ganger (5–29 %) | I 1 tilstand |
| HPD4-hydroxyphenylpyruvate dioxygenase | Noen ganger (5–29 %) | I 1 tilstand |
| IGF2insulin like growth factor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Noen ganger (5–29 %) | I 1 tilstand |
| IRF6interferon regulatory factor 6 | Noen ganger (5–29 %) | I 2 tilstander |
| JRKJrk helix-turn-helix protein | Noen ganger (5–29 %) | I 1 tilstand |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNJ2potassium inwardly rectifying channel subfamily J member 2 | Noen ganger (5–29 %) | I 2 tilstander |
| KCNJ5potassium inwardly rectifying channel subfamily J member 5 | Noen ganger (5–29 %) | I 1 tilstand |
| KDM2Blysine demethylase 2B | Noen ganger (5–29 %) | I 1 tilstand |
| KLF13KLF transcription factor 13 | Noen ganger (5–29 %) | I 1 tilstand |
| KRASKRas proto-oncogene, GTPase | Noen ganger (5–29 %) | I 1 tilstand |
| LAS1LLAS1 like ribosome biogenesis factor | Noen ganger (5–29 %) | I 1 tilstand |
| LYSTlysosomal trafficking regulator | Noen ganger (5–29 %) | I 1 tilstand |
| LZTR1leucine zipper like post translational regulator 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MRASmuscle RAS oncogene homolog | Noen ganger (5–29 %) | I 1 tilstand |
| MTHFRmethylenetetrahydrofolate reductase | Noen ganger (5–29 %) | I 1 tilstand |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Noen ganger (5–29 %) | I 1 tilstand |
| NRASNRAS proto-oncogene, GTPase | Noen ganger (5–29 %) | I 1 tilstand |
| NTN1netrin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ORC1origin recognition complex subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ORC4origin recognition complex subunit 4 | Noen ganger (5–29 %) | I 1 tilstand |
| ORC6origin recognition complex subunit 6 | Noen ganger (5–29 %) | I 1 tilstand |
| OTCornithine transcarbamylase | Noen ganger (5–29 %) | I 1 tilstand |
| PRRT2proline rich transmembrane protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Noen ganger (5–29 %) | I 1 tilstand |
| RAD51RAD51 recombinase | Noen ganger (5–29 %) | I 1 tilstand |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Noen ganger (5–29 %) | I 1 tilstand |
| RASA2RAS p21 protein activator 2 | Noen ganger (5–29 %) | I 1 tilstand |
| RIT1Ras like without CAAX 1 | Noen ganger (5–29 %) | I 1 tilstand |
| RRASRAS related | Noen ganger (5–29 %) | I 1 tilstand |
| RRAS2RAS related 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SBF2SET binding factor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC2A1solute carrier family 2 member 1 | Noen ganger (5–29 %) | I 2 tilstander |
| SLC2A10solute carrier family 2 member 10 | Noen ganger (5–29 %) | I 1 tilstand |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SPRED2sprouty related EVH1 domain containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SUGCTsuccinyl-CoA:glutarate-CoA transferase | Noen ganger (5–29 %) | I 1 tilstand |
| THOC6THO complex subunit 6 | Noen ganger (5–29 %) | I 1 tilstand |
| TMEM63Atransmembrane protein 63A | Noen ganger (5–29 %) | I 1 tilstand |
| TRIOtrio Rho guanine nucleotide exchange factor | Noen ganger (5–29 %) | I 1 tilstand |
| TUBB3tubulin beta 3 class III | Noen ganger (5–29 %) | I 1 tilstand |
| WNT5AWnt family member 5A | Noen ganger (5–29 %) | I 1 tilstand |
| ZFYVE26zinc finger FYVE-type containing 26 | Noen ganger (5–29 %) | I 1 tilstand |
| HALhistidine ammonia-lyase | Sjelden (1–4%) | I 1 tilstand |
| HINT1histidine triad nucleotide binding protein 1 | Sjelden (1–4%) | I 1 tilstand |
| MSX1msh homeobox 1 | Sjelden (1–4%) | I 1 tilstand |
| NECTIN1nectin cell adhesion molecule 1 | Sjelden (1–4%) | I 1 tilstand |
| SMPD1sphingomyelin phosphodiesterase 1 | Sjelden (1–4%) | I 1 tilstand |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Sjelden (1–4%) | I 1 tilstand |
| TAF11TATA-box binding protein associated factor 11 | Sjelden (1–4%) | I 1 tilstand |
| TP63tumor protein p63 | Sjelden (1–4%) | I 1 tilstand |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Ikke registrert | I 1 tilstand |
| APTXaprataxin | Ikke registrert | I 1 tilstand |
| ARXaristaless related homeobox | Ikke registrert | I 1 tilstand |
| BLMBLM RecQ like helicase | Ikke registrert | I 1 tilstand |
| CCDC28Bcoiled-coil domain containing 28B | Ikke registrert | I 1 tilstand |
| COQ2coenzyme Q2, polyprenyltransferase | Ikke registrert | I 1 tilstand |
| DGCR2DiGeorge syndrome critical region gene 2 | Ikke registrert | I 1 tilstand |
| DGCR6DiGeorge syndrome critical region gene 6 | Ikke registrert | I 1 tilstand |
| DGCR8DGCR8 microprocessor complex subunit | Ikke registrert | I 1 tilstand |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Ikke registrert | I 1 tilstand |
| ESS2ess-2 spliceosome associated protein | Ikke registrert | I 1 tilstand |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Ikke registrert | I 1 tilstand |
| JAG1jagged canonical Notch ligand 1 | Ikke registrert | I 1 tilstand |
| PIGHphosphatidylinositol glycan anchor biosynthesis class H | Ikke registrert | I 1 tilstand |
| SBDSSBDS ribosome maturation factor | Ikke registrert | I 1 tilstand |
| SIX6SIX homeobox 6 | Ikke registrert | I 1 tilstand |
| SOX2SRY-box transcription factor 2 | Ikke registrert | I 1 tilstand |
| SRP54signal recognition particle 54 | Ikke registrert | I 1 tilstand |
| TERCtelomerase RNA component | Ikke registrert | I 1 tilstand |
| TERTtelomerase reverse transcriptase | Ikke registrert | I 1 tilstand |
| TINF2TERF1 interacting nuclear factor 2 | Ikke registrert | I 1 tilstand |
| TUBB2Btubulin beta 2B class IIb | Ikke registrert | I 1 tilstand |
| TUBB4Atubulin beta 4A class IVa | Ikke registrert | I 1 tilstand |
| TWNKtwinkle mtDNA helicase | Ikke registrert | I 1 tilstand |
| WDR1WD repeat domain 1 | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
Smalere egenskaper
Bredere egenskaper
Slik er informasjonen samlet
- Human Phenotype Ontology, versjon 2026-09-01: egenskapen, navnene på den, definisjonen og genene som er knyttet til den. Les mer på hpo.jax.org.
- Datautgave 2026.10.16-c6eea6bf.
Én test. En livstid med svar.
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