Kenmerk
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.
Samenvatting
- Lichaamssysteem
- Abnormality of the nervous system
ReferentiegenoomGRCh38hg38
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Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Specific learning disability voorkomt. De meeste mensen met dit kenmerk hebben geen van die aandoeningen, en een gen op deze lijst zegt niets over het eigen genoom van iemand.
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| FARSBphenylalanyl-tRNA synthetase subunit beta | Altijd | In 1 aandoening |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Altijd | In 1 aandoening |
| MICU1mitochondrial calcium uptake 1 | Altijd | In 1 aandoening |
| PAPPA2pappalysin 2 | Altijd | In 1 aandoening |
| PCGF2polycomb group ring finger 2 | Altijd | In 1 aandoening |
| SKOR2SKI family transcriptional corepressor 2 | Altijd | In 1 aandoening |
| SRSF1serine and arginine rich splicing factor 1 | Altijd | In 1 aandoening |
| TMEM94transmembrane protein 94 | Altijd | In 1 aandoening |
| ACTBactin beta | Heel vaak (80–99%) | In 1 aandoening |
| ACTG1actin gamma 1 | Heel vaak (80–99%) | In 1 aandoening |
| ATP7AATPase copper transporting alpha | Heel vaak (80–99%) | In 1 aandoening |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Heel vaak (80–99%) | In 1 aandoening |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Heel vaak (80–99%) | In 1 aandoening |
| CKAP2Lcytoskeleton associated protein 2L | Heel vaak (80–99%) | In 1 aandoening |
| COL4A1collagen type IV alpha 1 chain | Heel vaak (80–99%) | In 1 aandoening |
| CRPPACDP-L-ribitol pyrophosphorylase A | Heel vaak (80–99%) | In 1 aandoening |
| DAG1dystroglycan 1 | Heel vaak (80–99%) | In 1 aandoening |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Heel vaak (80–99%) | In 1 aandoening |
| DMDdystrophin | Heel vaak (80–99%) | In 1 aandoening |
| EBF3EBF transcription factor 3 | Heel vaak (80–99%) | In 1 aandoening |
| EHMT1euchromatic histone lysine methyltransferase 1 | Heel vaak (80–99%) | In 1 aandoening |
| FKRPfukutin related protein | Heel vaak (80–99%) | In 1 aandoening |
| FKTNfukutin | Heel vaak (80–99%) | In 1 aandoening |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Heel vaak (80–99%) | In 1 aandoening |
| HMGA2high mobility group AT-hook 2 | Heel vaak (80–99%) | In 1 aandoening |
| KAT6Blysine acetyltransferase 6B | Heel vaak (80–99%) | In 1 aandoening |
| KIFBPkinesin family binding protein | Heel vaak (80–99%) | In 1 aandoening |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Heel vaak (80–99%) | In 1 aandoening |
| LEMD3LEM domain containing 3 | Heel vaak (80–99%) | In 1 aandoening |
| LTBP4latent transforming growth factor beta binding protein 4 | Heel vaak (80–99%) | In 1 aandoening |
| MAGEL2MAGE family member L2 | Heel vaak (80–99%) | In 5 aandoeningen |
| MAN2B1mannosidase alpha class 2B member 1 | Heel vaak (80–99%) | In 1 aandoening |
| MAP2K2mitogen-activated protein kinase kinase 2 | Heel vaak (80–99%) | In 1 aandoening |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Heel vaak (80–99%) | In 1 aandoening |
| MKRN3makorin ring finger protein 3 | Heel vaak (80–99%) | In 1 aandoening |
| MYO5Amyosin VA | Heel vaak (80–99%) | In 1 aandoening |
| NF1neurofibromin 1 | Heel vaak (80–99%) | In 5 aandoeningen |
| NPAP1nuclear pore associated protein 1 | Heel vaak (80–99%) | In 1 aandoening |
| NSD1nuclear receptor binding SET domain protein 1 | Heel vaak (80–99%) | In 1 aandoening |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Heel vaak (80–99%) | In 1 aandoening |
Toon nog 258 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Heel vaak (80–99%) | In 1 aandoening |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Heel vaak (80–99%) | In 1 aandoening |
| POMKprotein O-mannose kinase | Heel vaak (80–99%) | In 1 aandoening |
| POMT1protein O-mannosyltransferase 1 | Heel vaak (80–99%) | In 1 aandoening |
| POMT2protein O-mannosyltransferase 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| PRNPprion protein (Kanno blood group) | Heel vaak (80–99%) | In 1 aandoening |
| PTDSS1phosphatidylserine synthase 1 | Heel vaak (80–99%) | In 1 aandoening |
| PWAR1Prader Willi/Angelman region RNA 1 | Heel vaak (80–99%) | In 1 aandoening |
| PWRN1Prader-Willi region non-protein coding RNA 1 | Heel vaak (80–99%) | In 1 aandoening |
| RNU4ATACRNA, U4atac small nuclear | Heel vaak (80–99%) | In 1 aandoening |
| RXYLT1ribitol xylosyltransferase 1 | Heel vaak (80–99%) | In 1 aandoening |
| SC5Dsterol-C5-desaturase | Heel vaak (80–99%) | In 1 aandoening |
| SIL1SIL1 nucleotide exchange factor | Heel vaak (80–99%) | In 1 aandoening |
| SMAD4SMAD family member 4 | Heel vaak (80–99%) | In 1 aandoening |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Heel vaak (80–99%) | In 1 aandoening |
| SNORD115-1small nucleolar RNA, C/D box 115-1 | Heel vaak (80–99%) | In 1 aandoening |
| SNORD116-1small nucleolar RNA, C/D box 116-1 | Heel vaak (80–99%) | In 1 aandoening |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Heel vaak (80–99%) | In 2 aandoeningen |
| SYN1synapsin I | Heel vaak (80–99%) | In 2 aandoeningen |
| TCF4transcription factor 4 | Heel vaak (80–99%) | In 1 aandoening |
| TCTN3tectonic family member 3 | Heel vaak (80–99%) | In 1 aandoening |
| UBE3Bubiquitin protein ligase E3B | Heel vaak (80–99%) | In 1 aandoening |
| YY1AP1YY1 associated protein 1 | Heel vaak (80–99%) | In 1 aandoening |
| ABCD1ATP binding cassette subfamily D member 1 | Vaak (30–79%) | In 1 aandoening |
| ADGRG1adhesion G protein-coupled receptor G1 | Vaak (30–79%) | In 1 aandoening |
| AFF2ALF transcription elongation factor 2 | Vaak (30–79%) | In 1 aandoening |
| ALMS1ALMS1 centrosome and basal body associated protein | Vaak (30–79%) | In 1 aandoening |
| AMACRalpha-methylacyl-CoA racemase | Vaak (30–79%) | In 1 aandoening |
| ARL6ARF like GTPase 6 | Vaak (30–79%) | In 2 aandoeningen |
| ARVCFARVCF delta catenin family member | Vaak (30–79%) | In 1 aandoening |
| ASLargininosuccinate lyase | Vaak (30–79%) | In 1 aandoening |
| ASPAaspartoacylase | Vaak (30–79%) | In 1 aandoening |
| AUTS2activator of transcription and developmental regulator AUTS2 | Vaak (30–79%) | In 1 aandoening |
| BBIP1BBSome interacting protein 1 | Vaak (30–79%) | In 1 aandoening |
| BBS1Bardet-Biedl syndrome 1 | Vaak (30–79%) | In 2 aandoeningen |
| BBS10Bardet-Biedl syndrome 10 | Vaak (30–79%) | In 1 aandoening |
| BBS12Bardet-Biedl syndrome 12 | Vaak (30–79%) | In 1 aandoening |
| BBS2Bardet-Biedl syndrome 2 | Vaak (30–79%) | In 1 aandoening |
| BBS4Bardet-Biedl syndrome 4 | Vaak (30–79%) | In 1 aandoening |
| BBS5Bardet-Biedl syndrome 5 | Vaak (30–79%) | In 1 aandoening |
| BBS7Bardet-Biedl syndrome 7 | Vaak (30–79%) | In 1 aandoening |
| BBS9Bardet-Biedl syndrome 9 | Vaak (30–79%) | In 1 aandoening |
| CBLIFcobalamin binding intrinsic factor | Vaak (30–79%) | In 1 aandoening |
| CDK4cyclin dependent kinase 4 | Vaak (30–79%) | In 1 aandoening |
| CDONcell adhesion associated, oncogene regulated | Vaak (30–79%) | In 5 aandoeningen |
| CEP19centrosomal protein 19 | Vaak (30–79%) | In 1 aandoening |
| CEP290centrosomal protein 290 | Vaak (30–79%) | In 1 aandoening |
| CFAP418cilia and flagella associated protein 418 | Vaak (30–79%) | In 1 aandoening |
| CLTCL1clathrin heavy chain like 1 | Vaak (30–79%) | In 1 aandoening |
| COMTcatechol-O-methyltransferase | Vaak (30–79%) | In 1 aandoening |
| CRIPTOcripto, EGF-CFC family member | Vaak (30–79%) | In 5 aandoeningen |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Vaak (30–79%) | In 1 aandoening |
| DISP1dispatched RND transporter family member 1 | Vaak (30–79%) | In 5 aandoeningen |
| DLL1delta like canonical Notch ligand 1 | Vaak (30–79%) | In 5 aandoeningen |
| DPP9dipeptidyl peptidase 9 | Vaak (30–79%) | In 1 aandoening |
| DPYDdihydropyrimidine dehydrogenase | Vaak (30–79%) | In 1 aandoening |
| EXTL3exostosin like glycosyltransferase 3 | Vaak (30–79%) | In 1 aandoening |
| FANCFFA complementation group F | Vaak (30–79%) | In 1 aandoening |
| FGF8fibroblast growth factor 8 | Vaak (30–79%) | In 5 aandoeningen |
| FGFR1fibroblast growth factor receptor 1 | Vaak (30–79%) | In 2 aandoeningen |
| FIBPFGF1 intracellular binding protein | Vaak (30–79%) | In 1 aandoening |
| FOXH1forkhead box H1 | Vaak (30–79%) | In 5 aandoeningen |
| FOXP2forkhead box P2 | Vaak (30–79%) | In 1 aandoening |
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Vaak (30–79%) | In 1 aandoening |
| GALTgalactose-1-phosphate uridylyltransferase | Vaak (30–79%) | In 1 aandoening |
| GAS1growth arrest specific 1 | Vaak (30–79%) | In 5 aandoeningen |
| GDI1GDP dissociation inhibitor 1 | Vaak (30–79%) | In 1 aandoening |
| GLI2GLI family zinc finger 2 | Vaak (30–79%) | In 5 aandoeningen |
| GLUD1glutamate dehydrogenase 1 | Vaak (30–79%) | In 1 aandoening |
| GP1BBglycoprotein Ib platelet subunit beta | Vaak (30–79%) | In 1 aandoening |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Vaak (30–79%) | In 1 aandoening |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Vaak (30–79%) | In 3 aandoeningen |
| HIRAhistone cell cycle regulator | Vaak (30–79%) | In 1 aandoening |
| IFNGinterferon gamma | Vaak (30–79%) | In 2 aandoeningen |
| IFT172intraflagellar transport 172 | Vaak (30–79%) | In 1 aandoening |
| IFT27intraflagellar transport 27 | Vaak (30–79%) | In 1 aandoening |
| IFT74intraflagellar transport 74 | Vaak (30–79%) | In 1 aandoening |
| JMJD1Cjumonji domain containing 1C | Vaak (30–79%) | In 1 aandoening |
| KIF11kinesin family member 11 | Vaak (30–79%) | In 1 aandoening |
| LAMP2lysosome associated membrane protein 2 | Vaak (30–79%) | In 1 aandoening |
| LTBP1latent transforming growth factor beta binding protein 1 | Vaak (30–79%) | In 1 aandoening |
| LZTFL1leucine zipper transcription factor like 1 | Vaak (30–79%) | In 1 aandoening |
| MAU2MAU2 sister chromatid cohesion factor | Vaak (30–79%) | In 1 aandoening |
| MED13Lmediator complex subunit 13L | Vaak (30–79%) | In 1 aandoening |
| MID1midline 1 | Vaak (30–79%) | In 1 aandoening |
| MKKSMKKS centrosomal shuttling protein | Vaak (30–79%) | In 1 aandoening |
| MKS1MKS transition zone complex subunit 1 | Vaak (30–79%) | In 1 aandoening |
| MORC2MORC family CW-type zinc finger 2 | Vaak (30–79%) | In 1 aandoening |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Vaak (30–79%) | In 1 aandoening |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Vaak (30–79%) | In 1 aandoening |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Vaak (30–79%) | In 1 aandoening |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Vaak (30–79%) | In 1 aandoening |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Vaak (30–79%) | In 1 aandoening |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Vaak (30–79%) | In 1 aandoening |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Vaak (30–79%) | In 1 aandoening |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Vaak (30–79%) | In 1 aandoening |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Vaak (30–79%) | In 1 aandoening |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Vaak (30–79%) | In 1 aandoening |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Vaak (30–79%) | In 1 aandoening |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Vaak (30–79%) | In 1 aandoening |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Vaak (30–79%) | In 1 aandoening |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Vaak (30–79%) | In 1 aandoening |
| MTORmechanistic target of rapamycin kinase | Vaak (30–79%) | In 1 aandoening |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Vaak (30–79%) | In 2 aandoeningen |
| MYT1Lmyelin transcription factor 1 like | Vaak (30–79%) | In 1 aandoening |
| NDNnecdin, MAGE family member | Vaak (30–79%) | In 3 aandoeningen |
| NODALnodal growth differentiation factor | Vaak (30–79%) | In 5 aandoeningen |
| NPHP1nephrocystin 1 | Vaak (30–79%) | In 1 aandoening |
| NTRK1neurotrophic receptor tyrosine kinase 1 | Vaak (30–79%) | In 1 aandoening |
| OCA2OCA2 melanosomal transmembrane protein | Vaak (30–79%) | In 3 aandoeningen |
| PI4KAphosphatidylinositol 4-kinase alpha | Vaak (30–79%) | In 1 aandoening |
| PIK3C2Aphosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | Vaak (30–79%) | In 1 aandoening |
| PLCH1phospholipase C eta 1 | Vaak (30–79%) | In 1 aandoening |
| PRKD1protein kinase D1 | Vaak (30–79%) | In 1 aandoening |
| PRMT7protein arginine methyltransferase 7 | Vaak (30–79%) | In 1 aandoening |
| PTCH1patched 1 | Vaak (30–79%) | In 5 aandoeningen |
| RDH11retinol dehydrogenase 11 | Vaak (30–79%) | In 1 aandoening |
| RNF168ring finger protein 168 | Vaak (30–79%) | In 1 aandoening |
| RPS23ribosomal protein S23 | Vaak (30–79%) | In 1 aandoening |
| RREB1ras responsive element binding protein 1 | Vaak (30–79%) | In 1 aandoening |
| SCAPERS-phase cyclin A associated protein in the ER | Vaak (30–79%) | In 1 aandoening |
| SCLT1sodium channel and clathrin linker 1 | Vaak (30–79%) | In 1 aandoening |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Vaak (30–79%) | In 1 aandoening |
| SEC24CSEC24 homolog C, COPII component | Vaak (30–79%) | In 1 aandoening |
| SH2B1SH2B adaptor protein 1 | Vaak (30–79%) | In 1 aandoening |
| SHHsonic hedgehog signaling molecule | Vaak (30–79%) | In 6 aandoeningen |
| SIM1SIM bHLH transcription factor 1 | Vaak (30–79%) | In 2 aandoeningen |
| SIX3SIX homeobox 3 | Vaak (30–79%) | In 5 aandoeningen |
| SLC25A15solute carrier family 25 member 15 | Vaak (30–79%) | In 2 aandoeningen |
| SMC1Astructural maintenance of chromosomes 1A | Vaak (30–79%) | In 1 aandoening |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Vaak (30–79%) | In 3 aandoeningen |
| SPARTspartin | Vaak (30–79%) | In 1 aandoening |
| SPRED1sprouty related EVH1 domain containing 1 | Vaak (30–79%) | In 2 aandoeningen |
| SRPX2sushi repeat containing protein X-linked 2 | Vaak (30–79%) | In 3 aandoeningen |
| STAG2STAG2 cohesin complex component | Vaak (30–79%) | In 2 aandoeningen |
| STILSTIL centriolar assembly protein | Vaak (30–79%) | In 5 aandoeningen |
| TBX1T-box transcription factor 1 | Vaak (30–79%) | In 3 aandoeningen |
| TGIF1TGFB induced factor homeobox 1 | Vaak (30–79%) | In 5 aandoeningen |
| THRBthyroid hormone receptor beta | Vaak (30–79%) | In 1 aandoening |
| TRIM32tripartite motif containing 32 | Vaak (30–79%) | In 1 aandoening |
| TSC1TSC complex subunit 1 | Vaak (30–79%) | In 2 aandoeningen |
| TSC2TSC complex subunit 2 | Vaak (30–79%) | In 2 aandoeningen |
| TTC8tetratricopeptide repeat domain 8 | Vaak (30–79%) | In 1 aandoening |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Vaak (30–79%) | In 1 aandoening |
| WASWASP actin nucleation promoting factor | Vaak (30–79%) | In 1 aandoening |
| WDPCPWD repeat containing planar cell polarity effector | Vaak (30–79%) | In 1 aandoening |
| ZIC2Zic family zinc finger 2 | Vaak (30–79%) | In 5 aandoeningen |
| ALDOAaldolase, fructose-bisphosphate A | Soms (5–29%) | In 1 aandoening |
| ALPK3alpha kinase 3 | Soms (5–29%) | In 1 aandoening |
| AMER1APC membrane recruitment protein 1 | Soms (5–29%) | In 1 aandoening |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Soms (5–29%) | In 1 aandoening |
| CA2carbonic anhydrase 2 | Soms (5–29%) | In 1 aandoening |
| CACNA1Hcalcium voltage-gated channel subunit alpha1 H | Soms (5–29%) | In 1 aandoening |
| CBLCbl proto-oncogene | Soms (5–29%) | In 1 aandoening |
| CBScystathionine beta-synthase | Soms (5–29%) | In 1 aandoening |
| CDC45cell division cycle 45 | Soms (5–29%) | In 1 aandoening |
| CDC6cell division cycle 6 | Soms (5–29%) | In 1 aandoening |
| CDT1chromatin licensing and DNA replication factor 1 | Soms (5–29%) | In 1 aandoening |
| CHRNA7cholinergic receptor nicotinic alpha 7 subunit | Soms (5–29%) | In 1 aandoening |
| CHSY1chondroitin sulfate synthase 1 | Soms (5–29%) | In 1 aandoening |
| COX7Bcytochrome c oxidase subunit 7B | Soms (5–29%) | In 1 aandoening |
| CTNNB1catenin beta 1 | Soms (5–29%) | In 1 aandoening |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Soms (5–29%) | In 1 aandoening |
| DCCDCC netrin 1 receptor | Soms (5–29%) | In 1 aandoening |
| DNAL4dynein axonemal light chain 4 | Soms (5–29%) | In 1 aandoening |
| DTNAdystrobrevin alpha | Soms (5–29%) | In 1 aandoening |
| DVL1dishevelled segment polarity protein 1 | Soms (5–29%) | In 1 aandoening |
| DVL3dishevelled segment polarity protein 3 | Soms (5–29%) | In 1 aandoening |
| EFHC1EF-hand domain containing 1 | Soms (5–29%) | In 1 aandoening |
| EIF4A3eukaryotic translation initiation factor 4A3 | Soms (5–29%) | In 1 aandoening |
| FBXW7F-box and WD repeat domain containing 7 | Soms (5–29%) | In 1 aandoening |
| FLT4fms related receptor tyrosine kinase 4 | Soms (5–29%) | In 1 aandoening |
| FZD2frizzled class receptor 2 | Soms (5–29%) | In 1 aandoening |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Soms (5–29%) | In 1 aandoening |
| GABRB3gamma-aminobutyric acid type A receptor subunit beta3 | Soms (5–29%) | In 1 aandoening |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Soms (5–29%) | In 2 aandoeningen |
| GMNNgeminin DNA replication inhibitor | Soms (5–29%) | In 1 aandoening |
| GRB10growth factor receptor bound protein 10 | Soms (5–29%) | In 1 aandoening |
| H19H19 imprinted maternally expressed transcript | Soms (5–29%) | In 1 aandoening |
| HCCSholocytochrome c synthase | Soms (5–29%) | In 1 aandoening |
| HDAC8histone deacetylase 8 | Soms (5–29%) | In 1 aandoening |
| HPD4-hydroxyphenylpyruvate dioxygenase | Soms (5–29%) | In 1 aandoening |
| IGF2insulin like growth factor 2 | Soms (5–29%) | In 1 aandoening |
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Soms (5–29%) | In 1 aandoening |
| IRF6interferon regulatory factor 6 | Soms (5–29%) | In 2 aandoeningen |
| JRKJrk helix-turn-helix protein | Soms (5–29%) | In 1 aandoening |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Soms (5–29%) | In 1 aandoening |
| KCNJ2potassium inwardly rectifying channel subfamily J member 2 | Soms (5–29%) | In 2 aandoeningen |
| KCNJ5potassium inwardly rectifying channel subfamily J member 5 | Soms (5–29%) | In 1 aandoening |
| KDM2Blysine demethylase 2B | Soms (5–29%) | In 1 aandoening |
| KLF13KLF transcription factor 13 | Soms (5–29%) | In 1 aandoening |
| KRASKRas proto-oncogene, GTPase | Soms (5–29%) | In 1 aandoening |
| LAS1LLAS1 like ribosome biogenesis factor | Soms (5–29%) | In 1 aandoening |
| LYSTlysosomal trafficking regulator | Soms (5–29%) | In 1 aandoening |
| LZTR1leucine zipper like post translational regulator 1 | Soms (5–29%) | In 1 aandoening |
| MRASmuscle RAS oncogene homolog | Soms (5–29%) | In 1 aandoening |
| MTHFRmethylenetetrahydrofolate reductase | Soms (5–29%) | In 1 aandoening |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Soms (5–29%) | In 1 aandoening |
| NRASNRAS proto-oncogene, GTPase | Soms (5–29%) | In 1 aandoening |
| NTN1netrin 1 | Soms (5–29%) | In 1 aandoening |
| ORC1origin recognition complex subunit 1 | Soms (5–29%) | In 1 aandoening |
| ORC4origin recognition complex subunit 4 | Soms (5–29%) | In 1 aandoening |
| ORC6origin recognition complex subunit 6 | Soms (5–29%) | In 1 aandoening |
| OTCornithine transcarbamylase | Soms (5–29%) | In 1 aandoening |
| PRRT2proline rich transmembrane protein 2 | Soms (5–29%) | In 1 aandoening |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Soms (5–29%) | In 1 aandoening |
| RAD51RAD51 recombinase | Soms (5–29%) | In 1 aandoening |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Soms (5–29%) | In 1 aandoening |
| RASA2RAS p21 protein activator 2 | Soms (5–29%) | In 1 aandoening |
| RIT1Ras like without CAAX 1 | Soms (5–29%) | In 1 aandoening |
| RRASRAS related | Soms (5–29%) | In 1 aandoening |
| RRAS2RAS related 2 | Soms (5–29%) | In 1 aandoening |
| SBF2SET binding factor 2 | Soms (5–29%) | In 1 aandoening |
| SLC2A1solute carrier family 2 member 1 | Soms (5–29%) | In 2 aandoeningen |
| SLC2A10solute carrier family 2 member 10 | Soms (5–29%) | In 1 aandoening |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Soms (5–29%) | In 1 aandoening |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Soms (5–29%) | In 1 aandoening |
| SPRED2sprouty related EVH1 domain containing 2 | Soms (5–29%) | In 1 aandoening |
| SUGCTsuccinyl-CoA:glutarate-CoA transferase | Soms (5–29%) | In 1 aandoening |
| THOC6THO complex subunit 6 | Soms (5–29%) | In 1 aandoening |
| TMEM63Atransmembrane protein 63A | Soms (5–29%) | In 1 aandoening |
| TRIOtrio Rho guanine nucleotide exchange factor | Soms (5–29%) | In 1 aandoening |
| TUBB3tubulin beta 3 class III | Soms (5–29%) | In 1 aandoening |
| WNT5AWnt family member 5A | Soms (5–29%) | In 1 aandoening |
| ZFYVE26zinc finger FYVE-type containing 26 | Soms (5–29%) | In 1 aandoening |
| HALhistidine ammonia-lyase | Zelden (1–4%) | In 1 aandoening |
| HINT1histidine triad nucleotide binding protein 1 | Zelden (1–4%) | In 1 aandoening |
| MSX1msh homeobox 1 | Zelden (1–4%) | In 1 aandoening |
| NECTIN1nectin cell adhesion molecule 1 | Zelden (1–4%) | In 1 aandoening |
| SMPD1sphingomyelin phosphodiesterase 1 | Zelden (1–4%) | In 1 aandoening |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Zelden (1–4%) | In 1 aandoening |
| TAF11TATA-box binding protein associated factor 11 | Zelden (1–4%) | In 1 aandoening |
| TP63tumor protein p63 | Zelden (1–4%) | In 1 aandoening |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Niet vastgelegd | In 1 aandoening |
| APTXaprataxin | Niet vastgelegd | In 1 aandoening |
| ARXaristaless related homeobox | Niet vastgelegd | In 1 aandoening |
| BLMBLM RecQ like helicase | Niet vastgelegd | In 1 aandoening |
| CCDC28Bcoiled-coil domain containing 28B | Niet vastgelegd | In 1 aandoening |
| COQ2coenzyme Q2, polyprenyltransferase | Niet vastgelegd | In 1 aandoening |
| DGCR2DiGeorge syndrome critical region gene 2 | Niet vastgelegd | In 1 aandoening |
| DGCR6DiGeorge syndrome critical region gene 6 | Niet vastgelegd | In 1 aandoening |
| DGCR8DGCR8 microprocessor complex subunit | Niet vastgelegd | In 1 aandoening |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Niet vastgelegd | In 1 aandoening |
| ESS2ess-2 spliceosome associated protein | Niet vastgelegd | In 1 aandoening |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Niet vastgelegd | In 1 aandoening |
| JAG1jagged canonical Notch ligand 1 | Niet vastgelegd | In 1 aandoening |
| PIGHphosphatidylinositol glycan anchor biosynthesis class H | Niet vastgelegd | In 1 aandoening |
| SBDSSBDS ribosome maturation factor | Niet vastgelegd | In 1 aandoening |
| SIX6SIX homeobox 6 | Niet vastgelegd | In 1 aandoening |
| SOX2SRY-box transcription factor 2 | Niet vastgelegd | In 1 aandoening |
| SRP54signal recognition particle 54 | Niet vastgelegd | In 1 aandoening |
| TERCtelomerase RNA component | Niet vastgelegd | In 1 aandoening |
| TERTtelomerase reverse transcriptase | Niet vastgelegd | In 1 aandoening |
| TINF2TERF1 interacting nuclear factor 2 | Niet vastgelegd | In 1 aandoening |
| TUBB2Btubulin beta 2B class IIb | Niet vastgelegd | In 1 aandoening |
| TUBB4Atubulin beta 4A class IVa | Niet vastgelegd | In 1 aandoening |
| TWNKtwinkle mtDNA helicase | Niet vastgelegd | In 1 aandoening |
| WDR1WD repeat domain 1 | Niet vastgelegd | In 1 aandoening |
Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.
Smallere kenmerken
Bredere kenmerken
Waar dit vandaan komt
- De Human Phenotype Ontology, release 2026-09-01: het kenmerk, de namen, de definitie en de genen die ermee verbonden zijn. Meer informatie vindt u op hpo.jax.org.
- Gegevensrelease 2026.10.16-c6eea6bf.
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