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Kenmerk
Difficulty sleeping
Klinische naam: Sleep disturbance
An abnormal pattern in the quality, quantity, or characteristics of sleep.
Samenvatting
- Ook bekend als
- Trouble sleeping, Sleep abnormality, Sleep disturbances, Sleep dysfunction, Sleep-wake disturbance
- Lichaamssysteem
- Abnormality of the nervous system
Difficulty sleepingHP:0002360
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Mijn Genome Test bestellen343 genen gekoppeld aan Difficulty sleeping
Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Difficulty sleeping 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 |
|---|---|---|
| ACBD6acyl-CoA binding domain containing 6 | Altijd | In 1 aandoening |
| AHDC1AT-hook DNA binding motif containing 1 | Altijd | In 1 aandoening |
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Altijd | In 1 aandoening |
| ANK3ankyrin 3 | Altijd | In 2 aandoeningen |
| BAIAP2BAR/IMD domain containing adaptor protein 2 | Altijd | In 1 aandoening |
| CHD8chromodomain helicase DNA binding protein 8 | Altijd | In 2 aandoeningen |
| DEAF1DEAF1 transcription factor | Altijd | In 3 aandoeningen |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Altijd | In 1 aandoening |
| EMC10ER membrane protein complex subunit 10 | Altijd | In 1 aandoening |
| FDXRferredoxin reductase | Altijd | In 1 aandoening |
| FRYLFRY like transcription coactivator | Altijd | In 1 aandoening |
| GNSglucosamine (N-acetyl)-6-sulfatase | Altijd | In 1 aandoening |
| GRIA1glutamate ionotropic receptor AMPA type subunit 1 | Altijd | In 2 aandoeningen |
| HNRNPCheterogeneous nuclear ribonucleoprotein C | Altijd | In 1 aandoening |
| HTThuntingtin | Altijd | In 1 aandoening |
| JKAMPJNK1/MAPK8 associated membrane protein | Altijd | In 1 aandoening |
| LIASlipoic acid synthetase | Altijd | In 1 aandoening |
| MED16mediator complex subunit 16 | Altijd | In 1 aandoening |
| MED23mediator complex subunit 23 | Altijd | In 1 aandoening |
| SATB2SATB homeobox 2 | Altijd | In 3 aandoeningen |
| SLC18A2solute carrier family 18 member A2 | Altijd | In 2 aandoeningen |
| SLC32A1solute carrier family 32 member 1 | Altijd | In 2 aandoeningen |
| TFE3transcription factor binding to IGHM enhancer 3 | Altijd | In 1 aandoening |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Altijd | In 1 aandoening |
| UQCC3ubiquinol-cytochrome c reductase complex assembly factor 3 | Altijd | In 1 aandoening |
| VPS4Avacuolar protein sorting 4 homolog A | Altijd | In 1 aandoening |
| VRK1VRK serine/threonine kinase 1 | Altijd | In 1 aandoening |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Altijd | In 1 aandoening |
| YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | Altijd | In 1 aandoening |
| ZMYM3zinc finger MYM-type containing 3 | Altijd | In 1 aandoening |
| ATP9AATPase phospholipid transporting 9A | Heel vaak (80–99%) | In 1 aandoening |
| CDKL5cyclin dependent kinase like 5 | Heel vaak (80–99%) | In 2 aandoeningen |
| CTSHcathepsin H | Heel vaak (80–99%) | In 1 aandoening |
| DCTN1dynactin subunit 1 | Heel vaak (80–99%) | In 3 aandoeningen |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| HCRThypocretin neuropeptide precursor | Heel vaak (80–99%) | In 2 aandoeningen |
| HLA-DQB1major histocompatibility complex, class II, DQ beta 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| MECP2methyl-CpG binding protein 2 | Heel vaak (80–99%) | In 5 aandoeningen |
| MOGmyelin oligodendrocyte glycoprotein | Heel vaak (80–99%) | In 1 aandoening |
Toon nog 303 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| NAGLUN-acetyl-alpha-glucosaminidase | Heel vaak (80–99%) | In 2 aandoeningen |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Heel vaak (80–99%) | In 2 aandoeningen |
| NTNG1netrin G1 | Heel vaak (80–99%) | In 1 aandoening |
| P2RY11purinergic receptor P2Y11 | Heel vaak (80–99%) | In 1 aandoening |
| PRNPprion protein (Kanno blood group) | Heel vaak (80–99%) | In 2 aandoeningen |
| RAI1retinoic acid induced 1 | Heel vaak (80–99%) | In 4 aandoeningen |
| RNU2-2RNA, U2 small nuclear 2 | Heel vaak (80–99%) | In 1 aandoening |
| SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | Heel vaak (80–99%) | In 2 aandoeningen |
| SGSHN-sulfoglucosamine sulfohydrolase | Heel vaak (80–99%) | In 1 aandoening |
| SMC1Astructural maintenance of chromosomes 1A | Heel vaak (80–99%) | In 2 aandoeningen |
| TCF4transcription factor 4 | Heel vaak (80–99%) | In 1 aandoening |
| TNFSF4TNF superfamily member 4 | Heel vaak (80–99%) | In 1 aandoening |
| TSEN15tRNA splicing endonuclease subunit 15 | Heel vaak (80–99%) | In 1 aandoening |
| TSEN2tRNA splicing endonuclease subunit 2 | Heel vaak (80–99%) | In 1 aandoening |
| TSEN34tRNA splicing endonuclease subunit 34 | Heel vaak (80–99%) | In 1 aandoening |
| TSEN54tRNA splicing endonuclease subunit 54 | Heel vaak (80–99%) | In 1 aandoening |
| ZNF365zinc finger protein 365 | Heel vaak (80–99%) | In 2 aandoeningen |
| ADGRL1adhesion G protein-coupled receptor L1 | Vaak (30–79%) | In 1 aandoening |
| ADGRV1adhesion G protein-coupled receptor V1 | Vaak (30–79%) | In 1 aandoening |
| AGO1argonaute RISC component 1 | Vaak (30–79%) | In 1 aandoening |
| ALDH4A1aldehyde dehydrogenase 4 family member A1 | Vaak (30–79%) | In 1 aandoening |
| ARXaristaless related homeobox | Vaak (30–79%) | In 1 aandoening |
| ASH1LASH1 like histone lysine methyltransferase | Vaak (30–79%) | In 1 aandoening |
| ASPAaspartoacylase | Vaak (30–79%) | In 1 aandoening |
| ASXL1ASXL transcriptional regulator 1 | Vaak (30–79%) | In 1 aandoening |
| ATAD1ATPase family AAA domain containing 1 | Vaak (30–79%) | In 1 aandoening |
| ATRXATRX chromatin remodeler | Vaak (30–79%) | In 1 aandoening |
| BCL11ABCL11 transcription factor A | Vaak (30–79%) | In 1 aandoening |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Vaak (30–79%) | In 1 aandoening |
| BRD4bromodomain containing 4 | Vaak (30–79%) | In 1 aandoening |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Vaak (30–79%) | In 1 aandoening |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Vaak (30–79%) | In 1 aandoening |
| CASKcalcium/calmodulin dependent serine protein kinase | Vaak (30–79%) | In 2 aandoeningen |
| CD4CD4 molecule | Vaak (30–79%) | In 1 aandoening |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Vaak (30–79%) | In 1 aandoening |
| CPLX1complexin 1 | Vaak (30–79%) | In 1 aandoening |
| CSNK2A1casein kinase 2 alpha 1 | Vaak (30–79%) | In 1 aandoening |
| CTBP1C-terminal binding protein 1 | Vaak (30–79%) | In 1 aandoening |
| CTNNB1catenin beta 1 | Vaak (30–79%) | In 2 aandoeningen |
| DBHdopamine beta-hydroxylase | Vaak (30–79%) | In 1 aandoening |
| DDCdopa decarboxylase | Vaak (30–79%) | In 2 aandoeningen |
| DHCR77-dehydrocholesterol reductase | Vaak (30–79%) | In 1 aandoening |
| DHX30DExH-box helicase 30 | Vaak (30–79%) | In 1 aandoening |
| DMXL2Dmx like 2 | Vaak (30–79%) | In 1 aandoening |
| EHMT1euchromatic histone lysine methyltransferase 1 | Vaak (30–79%) | In 2 aandoeningen |
| FBXO11F-box protein 11 | Vaak (30–79%) | In 1 aandoening |
| FBXO7F-box protein 7 | Vaak (30–79%) | In 1 aandoening |
| FMR1fragile X messenger ribonucleoprotein 1 | Vaak (30–79%) | In 1 aandoening |
| FOXG1forkhead box G1 | Vaak (30–79%) | In 1 aandoening |
| FRA10AC1FRA10A associated CGG repeat 1 | Vaak (30–79%) | In 1 aandoening |
| GABBR1gamma-aminobutyric acid type B receptor subunit 1 | Vaak (30–79%) | In 1 aandoening |
| GCH1GTP cyclohydrolase 1 | Vaak (30–79%) | In 1 aandoening |
| GLRA1glycine receptor alpha 1 | Vaak (30–79%) | In 1 aandoening |
| GLRBglycine receptor beta | Vaak (30–79%) | In 1 aandoening |
| GNAO1G protein subunit alpha o1 | Vaak (30–79%) | In 1 aandoening |
| GPHNgephyrin | Vaak (30–79%) | In 1 aandoening |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Vaak (30–79%) | In 2 aandoeningen |
| GRM7glutamate metabotropic receptor 7 | Vaak (30–79%) | In 1 aandoening |
| HDAC4histone deacetylase 4 | Vaak (30–79%) | In 3 aandoeningen |
| HDAC8histone deacetylase 8 | Vaak (30–79%) | In 1 aandoening |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Vaak (30–79%) | In 1 aandoening |
| HIBCH3-hydroxyisobutyryl-CoA hydrolase | Vaak (30–79%) | In 1 aandoening |
| IDUAalpha-L-iduronidase | Vaak (30–79%) | In 1 aandoening |
| IFNGinterferon gamma | Vaak (30–79%) | In 1 aandoening |
| IMPDH2inosine monophosphate dehydrogenase 2 | Vaak (30–79%) | In 1 aandoening |
| IRF4interferon regulatory factor 4 | Vaak (30–79%) | In 1 aandoening |
| KAT5lysine acetyltransferase 5 | Vaak (30–79%) | In 1 aandoening |
| KAT6Alysine acetyltransferase 6A | Vaak (30–79%) | In 1 aandoening |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Vaak (30–79%) | In 1 aandoening |
| KMT2Alysine methyltransferase 2A | Vaak (30–79%) | In 1 aandoening |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Vaak (30–79%) | In 1 aandoening |
| LGI1leucine rich glioma inactivated 1 | Vaak (30–79%) | In 1 aandoening |
| MAGEL2MAGE family member L2 | Vaak (30–79%) | In 4 aandoeningen |
| MAU2MAU2 sister chromatid cohesion factor | Vaak (30–79%) | In 1 aandoening |
| MBD5methyl-CpG binding domain protein 5 | Vaak (30–79%) | In 1 aandoening |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Vaak (30–79%) | In 1 aandoening |
| MED12Lmediator complex subunit 12L | Vaak (30–79%) | In 1 aandoening |
| MEFVMEFV innate immunity regulator, pyrin | Vaak (30–79%) | In 1 aandoening |
| MKRN3makorin ring finger protein 3 | Vaak (30–79%) | In 1 aandoening |
| MYO7Amyosin VIIA | Vaak (30–79%) | In 1 aandoening |
| MYT1Lmyelin transcription factor 1 like | Vaak (30–79%) | In 1 aandoening |
| NACC1nucleus accumbens associated 1 | Vaak (30–79%) | In 2 aandoeningen |
| NDNnecdin, MAGE family member | Vaak (30–79%) | In 3 aandoeningen |
| NDST1N-deacetylase and N-sulfotransferase 1 | Vaak (30–79%) | In 1 aandoening |
| NELFAnegative elongation factor complex member A | Vaak (30–79%) | In 1 aandoening |
| NEUROD2neuronal differentiation 2 | Vaak (30–79%) | In 1 aandoening |
| NF1neurofibromin 1 | Vaak (30–79%) | In 1 aandoening |
| NIPBLNIPBL cohesin loading factor | Vaak (30–79%) | In 1 aandoening |
| NPAP1nuclear pore associated protein 1 | Vaak (30–79%) | In 1 aandoening |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Vaak (30–79%) | In 2 aandoeningen |
| NSD2nuclear receptor binding SET domain protein 2 | Vaak (30–79%) | In 1 aandoening |
| NSUN6NOP2/Sun RNA methyltransferase 6 | Vaak (30–79%) | In 1 aandoening |
| OCA2OCA2 melanosomal transmembrane protein | Vaak (30–79%) | In 3 aandoeningen |
| P4HTMprolyl 4-hydroxylase, transmembrane | Vaak (30–79%) | In 1 aandoening |
| PDZD7PDZ domain containing 7 | Vaak (30–79%) | In 1 aandoening |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Vaak (30–79%) | In 1 aandoening |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Vaak (30–79%) | In 1 aandoening |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Vaak (30–79%) | In 1 aandoening |
| PNKPpolynucleotide kinase 3'-phosphatase | Vaak (30–79%) | In 1 aandoening |
| POGZpogo transposable element derived with ZNF domain | Vaak (30–79%) | In 2 aandoeningen |
| POLR2ARNA polymerase II subunit A | Vaak (30–79%) | In 1 aandoening |
| POU3F3POU class 3 homeobox 3 | Vaak (30–79%) | In 1 aandoening |
| PWAR1Prader Willi/Angelman region RNA 1 | Vaak (30–79%) | In 1 aandoening |
| PWRN1Prader-Willi region non-protein coding RNA 1 | Vaak (30–79%) | In 1 aandoening |
| RAD21RAD21 cohesin complex component | Vaak (30–79%) | In 1 aandoening |
| RFX7regulatory factor X7 | Vaak (30–79%) | In 1 aandoening |
| RHOBTB2Rho related BTB domain containing 2 | Vaak (30–79%) | In 1 aandoening |
| RIC1RIC1 partner of RAB6A GEF complex | Vaak (30–79%) | In 1 aandoening |
| RNU5B-1RNA, U5B small nuclear 1 | Vaak (30–79%) | In 1 aandoening |
| SATB1SATB homeobox 1 | Vaak (30–79%) | In 2 aandoeningen |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Vaak (30–79%) | In 1 aandoening |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Vaak (30–79%) | In 1 aandoening |
| SETD1ASET domain containing 1A, histone lysine methyltransferase | Vaak (30–79%) | In 1 aandoening |
| SIK1salt inducible kinase 1 | Vaak (30–79%) | In 1 aandoening |
| SLC16A2solute carrier family 16 member 2 | Vaak (30–79%) | In 1 aandoening |
| SLC25A13solute carrier family 25 member 13 | Vaak (30–79%) | In 1 aandoening |
| SLC25A22solute carrier family 25 member 22 | Vaak (30–79%) | In 1 aandoening |
| SLC35C1solute carrier family 35 member C1 | Vaak (30–79%) | In 1 aandoening |
| SLC6A5solute carrier family 6 member 5 | Vaak (30–79%) | In 1 aandoening |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Vaak (30–79%) | In 1 aandoening |
| SMC3structural maintenance of chromosomes 3 | Vaak (30–79%) | In 1 aandoening |
| SNCAsynuclein alpha | Vaak (30–79%) | In 3 aandoeningen |
| SNORD115-1small nucleolar RNA, C/D box 115-1 | Vaak (30–79%) | In 1 aandoening |
| SNORD116-1small nucleolar RNA, C/D box 116-1 | Vaak (30–79%) | In 1 aandoening |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Vaak (30–79%) | In 3 aandoeningen |
| SPRsepiapterin reductase | Vaak (30–79%) | In 2 aandoeningen |
| SPTBN1spectrin beta, non-erythrocytic 1 | Vaak (30–79%) | In 1 aandoening |
| SPTSSAserine palmitoyltransferase small subunit A | Vaak (30–79%) | In 1 aandoening |
| STAG2STAG2 cohesin complex component | Vaak (30–79%) | In 1 aandoening |
| SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit | Vaak (30–79%) | In 2 aandoeningen |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Vaak (30–79%) | In 1 aandoening |
| SYT1synaptotagmin 1 | Vaak (30–79%) | In 1 aandoening |
| TANC2tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 | Vaak (30–79%) | In 1 aandoening |
| TBC1D20TBC1 domain family member 20 | Vaak (30–79%) | In 1 aandoening |
| TELO2telomere maintenance 2 | Vaak (30–79%) | In 1 aandoening |
| TRA2Btransformer 2 beta homolog | Vaak (30–79%) | In 1 aandoening |
| TRIM8tripartite motif containing 8 | Vaak (30–79%) | In 1 aandoening |
| TSC1TSC complex subunit 1 | Vaak (30–79%) | In 1 aandoening |
| TSC2TSC complex subunit 2 | Vaak (30–79%) | In 1 aandoening |
| TSHRthyroid stimulating hormone receptor | Vaak (30–79%) | In 2 aandoeningen |
| TTI2TELO2 interacting protein 2 | Vaak (30–79%) | In 2 aandoeningen |
| UBE3Cubiquitin protein ligase E3C | Vaak (30–79%) | In 1 aandoening |
| USH2Ausherin | Vaak (30–79%) | In 1 aandoening |
| WACWW domain containing adaptor with coiled-coil | Vaak (30–79%) | In 3 aandoeningen |
| WDR45WD repeat domain 45 | Vaak (30–79%) | In 1 aandoening |
| WDR73WD repeat domain 73 | Vaak (30–79%) | In 1 aandoening |
| WHRNwhirlin | Vaak (30–79%) | In 1 aandoening |
| ZEB2zinc finger E-box binding homeobox 2 | Vaak (30–79%) | In 2 aandoeningen |
| ACTA1actin alpha 1, skeletal muscle | Soms (5–29%) | In 1 aandoening |
| ADNPactivity dependent neuroprotector homeobox | Soms (5–29%) | In 1 aandoening |
| AGAaspartylglucosaminidase | Soms (5–29%) | In 1 aandoening |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Soms (5–29%) | In 1 aandoening |
| ANGangiogenin | Soms (5–29%) | In 1 aandoening |
| ANXA11annexin A11 | Soms (5–29%) | In 1 aandoening |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Soms (5–29%) | In 1 aandoening |
| ARNT2aryl hydrocarbon receptor nuclear translocator 2 | Soms (5–29%) | In 1 aandoening |
| ASXL3ASXL transcriptional regulator 3 | Soms (5–29%) | In 1 aandoening |
| ATAD3AATPase family AAA domain containing 3A | Soms (5–29%) | In 1 aandoening |
| ATXN10ataxin 10 | Soms (5–29%) | In 1 aandoening |
| ATXN2ataxin 2 | Soms (5–29%) | In 2 aandoeningen |
| ATXN3ataxin 3 | Soms (5–29%) | In 4 aandoeningen |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Soms (5–29%) | In 1 aandoening |
| CACHD1cache domain containing 1 | Soms (5–29%) | In 1 aandoening |
| CAMK2Bcalcium/calmodulin dependent protein kinase II beta | Soms (5–29%) | In 1 aandoening |
| CARS1cysteinyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| CCNFcyclin F | Soms (5–29%) | In 1 aandoening |
| CFAP410cilia and flagella associated protein 410 | Soms (5–29%) | In 1 aandoening |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Soms (5–29%) | In 1 aandoening |
| CHKAcholine kinase alpha | Soms (5–29%) | In 1 aandoening |
| CHMP2Bcharged multivesicular body protein 2B | Soms (5–29%) | In 1 aandoening |
| CICcapicua transcriptional repressor | Soms (5–29%) | In 1 aandoening |
| CISD2CDGSH iron sulfur domain 2 | Soms (5–29%) | In 1 aandoening |
| CNBPCCHC-type zinc finger nucleic acid binding protein | Soms (5–29%) | In 1 aandoening |
| CTCFCCCTC-binding factor | Soms (5–29%) | In 2 aandoeningen |
| DAOD-amino acid oxidase | Soms (5–29%) | In 1 aandoening |
| DMPKDM1 protein kinase | Soms (5–29%) | In 1 aandoening |
| DNAJC13DnaJ heat shock protein family (Hsp40) member C13 | Soms (5–29%) | In 1 aandoening |
| DPH5diphthamide biosynthesis 5 | Soms (5–29%) | In 1 aandoening |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Soms (5–29%) | In 1 aandoening |
| EBF3EBF transcription factor 3 | Soms (5–29%) | In 1 aandoening |
| EIF3Feukaryotic translation initiation factor 3 subunit F | Soms (5–29%) | In 1 aandoening |
| EIF4G1eukaryotic translation initiation factor 4 gamma 1 | Soms (5–29%) | In 1 aandoening |
| ELNelastin | Soms (5–29%) | In 1 aandoening |
| EPG5ectopic P-granules 5 autophagy tethering factor | Soms (5–29%) | In 1 aandoening |
| EPM2AEPM2A glucan phosphatase, laforin | Soms (5–29%) | In 1 aandoening |
| ERBB4erb-b2 receptor tyrosine kinase 4 | Soms (5–29%) | In 1 aandoening |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Soms (5–29%) | In 1 aandoening |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Soms (5–29%) | In 1 aandoening |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Soms (5–29%) | In 1 aandoening |
| FGFR1fibroblast growth factor receptor 1 | Soms (5–29%) | In 1 aandoening |
| FIG4FIG4 phosphoinositide 5-phosphatase | Soms (5–29%) | In 1 aandoening |
| FUSFUS RNA binding protein | Soms (5–29%) | In 1 aandoening |
| GABRB3gamma-aminobutyric acid type A receptor subunit beta3 | Soms (5–29%) | In 1 aandoening |
| GATAD2BGATA zinc finger domain containing 2B | Soms (5–29%) | In 1 aandoening |
| GBA1glucosylceramidase beta 1 | Soms (5–29%) | In 2 aandoeningen |
| GFAPglial fibrillary acidic protein | Soms (5–29%) | In 1 aandoening |
| GIGYF2GRB10 interacting GYF protein 2 | Soms (5–29%) | In 1 aandoening |
| GLE1GLE1 RNA export mediator | Soms (5–29%) | In 1 aandoening |
| GLT8D1glycosyltransferase 8 domain containing 1 | Soms (5–29%) | In 1 aandoening |
| GNAQG protein subunit alpha q | Soms (5–29%) | In 1 aandoening |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Soms (5–29%) | In 1 aandoening |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Soms (5–29%) | In 1 aandoening |
| H4C5H4 clustered histone 5 | Soms (5–29%) | In 1 aandoening |
| HACD13-hydroxyacyl-CoA dehydratase 1 | Soms (5–29%) | In 1 aandoening |
| HESX1HESX homeobox 1 | Soms (5–29%) | In 1 aandoening |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Soms (5–29%) | In 1 aandoening |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Soms (5–29%) | In 1 aandoening |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Soms (5–29%) | In 1 aandoening |
| IL12Ainterleukin 12A | Soms (5–29%) | In 1 aandoening |
| IL12RB1interleukin 12 receptor subunit beta 1 | Soms (5–29%) | In 1 aandoening |
| IRF5interferon regulatory factor 5 | Soms (5–29%) | In 1 aandoening |
| ITGA7integrin subunit alpha 7 | Soms (5–29%) | In 1 aandoening |
| KDM6Blysine demethylase 6B | Soms (5–29%) | In 1 aandoening |
| KICS2KICSTOR subunit 2 | Soms (5–29%) | In 1 aandoening |
| KIF11kinesin family member 11 | Soms (5–29%) | In 1 aandoening |
| LARP7La ribonucleoprotein 7, transcriptional regulator | Soms (5–29%) | In 1 aandoening |
| LRP12LDL receptor related protein 12 | Soms (5–29%) | In 1 aandoening |
| LRRC7leucine rich repeat containing 7 | Soms (5–29%) | In 1 aandoening |
| LRRK2leucine rich repeat kinase 2 | Soms (5–29%) | In 1 aandoening |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Soms (5–29%) | In 1 aandoening |
| MARK2microtubule affinity regulating kinase 2 | Soms (5–29%) | In 1 aandoening |
| MATR3matrin 3 | Soms (5–29%) | In 1 aandoening |
| MLXIPLMLX interacting protein like | Soms (5–29%) | In 1 aandoening |
| MMEL1membrane metalloendopeptidase like 1 | Soms (5–29%) | In 1 aandoening |
| MYL2myosin light chain 2 | Soms (5–29%) | In 1 aandoening |
| NDPnorrin cystine knot growth factor NDP | Soms (5–29%) | In 1 aandoening |
| NEFHneurofilament heavy chain | Soms (5–29%) | In 1 aandoening |
| NEK1NIMA related kinase 1 | Soms (5–29%) | In 1 aandoening |
| NHLRC1NHL repeat containing E3 ubiquitin protein ligase 1 | Soms (5–29%) | In 1 aandoening |
| NKX2-1NK2 homeobox 1 | Soms (5–29%) | In 2 aandoeningen |
| OPTNoptineurin | Soms (5–29%) | In 1 aandoening |
| OTX2orthodenticle homeobox 2 | Soms (5–29%) | In 1 aandoening |
| PFN1profilin 1 | Soms (5–29%) | In 1 aandoening |
| PHEXphosphate regulating endopeptidase X-linked | Soms (5–29%) | In 1 aandoening |
| PHIPPHIP subunit of CUL4-Ring ligase complex | Soms (5–29%) | In 1 aandoening |
| PHKA2phosphorylase kinase regulatory subunit alpha 2 | Soms (5–29%) | In 1 aandoening |
| PHKG2phosphorylase kinase catalytic subunit gamma 2 | Soms (5–29%) | In 1 aandoening |
| PIDD1p53-induced death domain protein 1 | Soms (5–29%) | In 1 aandoening |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Soms (5–29%) | In 1 aandoening |
| POU2AF1POU class 2 homeobox associating factor 1 | Soms (5–29%) | In 1 aandoening |
| PROKR2prokineticin receptor 2 | Soms (5–29%) | In 1 aandoening |
| PRPHperipherin | Soms (5–29%) | In 1 aandoening |
| PUF60poly(U) binding splicing factor 60 | Soms (5–29%) | In 1 aandoening |
| PYGLglycogen phosphorylase L | Soms (5–29%) | In 1 aandoening |
| RAC1Rac family small GTPase 1 | Soms (5–29%) | In 1 aandoening |
| RNU4-2RNA, U4 small nuclear 2 | Soms (5–29%) | In 1 aandoening |
| RNU7-1RNA, U7 small nuclear 1 | Soms (5–29%) | In 1 aandoening |
| RTTNrotatin | Soms (5–29%) | In 1 aandoening |
| SARDHsarcosine dehydrogenase | Soms (5–29%) | In 1 aandoening |
| SELENONselenoprotein N | Soms (5–29%) | In 1 aandoening |
| SEPTIN9septin 9 | Soms (5–29%) | In 1 aandoening |
| SETBP1SET binding protein 1 | Soms (5–29%) | In 1 aandoening |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Soms (5–29%) | In 1 aandoening |
| SLC2A1solute carrier family 2 member 1 | Soms (5–29%) | In 2 aandoeningen |
| SLC9A6solute carrier family 9 member A6 | Soms (5–29%) | In 2 aandoeningen |
| SMPD1sphingomyelin phosphodiesterase 1 | Soms (5–29%) | In 1 aandoening |
| SOD1superoxide dismutase 1 | Soms (5–29%) | In 1 aandoening |
| SOX2SRY-box transcription factor 2 | Soms (5–29%) | In 1 aandoening |
| SOX3SRY-box transcription factor 3 | Soms (5–29%) | In 1 aandoening |
| SPARTspartin | Soms (5–29%) | In 1 aandoening |
| SPIBSpi-B transcription factor | Soms (5–29%) | In 1 aandoening |
| SQSTM1sequestosome 1 | Soms (5–29%) | In 1 aandoening |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Soms (5–29%) | In 1 aandoening |
| TAF15TATA-box binding protein associated factor 15 | Soms (5–29%) | In 1 aandoening |
| TARDBPTAR DNA binding protein | Soms (5–29%) | In 1 aandoening |
| TBK1TANK binding kinase 1 | Soms (5–29%) | In 1 aandoening |
| TFAP2Btranscription factor AP-2 beta | Soms (5–29%) | In 1 aandoening |
| TNFSF15TNF superfamily member 15 | Soms (5–29%) | In 1 aandoening |
| TNPO3transportin 3 | Soms (5–29%) | In 1 aandoening |
| TNRC6Btrinucleotide repeat containing adaptor 6B | Soms (5–29%) | In 1 aandoening |
| TPM2tropomyosin 2 | Soms (5–29%) | In 1 aandoening |
| TPM3tropomyosin 3 | Soms (5–29%) | In 1 aandoening |
| TREM2triggering receptor expressed on myeloid cells 2 | Soms (5–29%) | In 1 aandoening |
| TRIOtrio Rho guanine nucleotide exchange factor | Soms (5–29%) | In 1 aandoening |
| TTC5tetratricopeptide repeat domain 5 | Soms (5–29%) | In 1 aandoening |
| UBQLN2ubiquilin 2 | Soms (5–29%) | In 1 aandoening |
| UNC13Aunc-13 homolog A | Soms (5–29%) | In 1 aandoening |
| USP7ubiquitin specific peptidase 7 | Soms (5–29%) | In 1 aandoening |
| VAPBVAMP associated protein B and C | Soms (5–29%) | In 1 aandoening |
| VCPvalosin containing protein | Soms (5–29%) | In 1 aandoening |
| VPS35VPS35 retromer complex component | Soms (5–29%) | In 1 aandoening |
| WFS1wolframin ER transmembrane glycoprotein | Soms (5–29%) | In 1 aandoening |
| YY1YY1 transcription factor | Soms (5–29%) | In 1 aandoening |
| ALMS1ALMS1 centrosome and basal body associated protein | Zelden (1–4%) | In 1 aandoening |
| CORINcorin, serine peptidase | Zelden (1–4%) | In 1 aandoening |
| FLT1fms related receptor tyrosine kinase 1 | Zelden (1–4%) | In 1 aandoening |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Zelden (1–4%) | In 1 aandoening |
| STOX1storkhead box 1 | Zelden (1–4%) | In 1 aandoening |
| VPS13Avacuolar protein sorting 13 homolog A | Zelden (1–4%) | In 1 aandoening |
| ADH1Calcohol dehydrogenase 1C (class I), gamma polypeptide | Niet vastgelegd | In 1 aandoening |
| ATXN8OSATXN8 opposite strand lncRNA | Niet vastgelegd | In 1 aandoening |
| EML1EMAP like 1 | Niet vastgelegd | In 1 aandoening |
| FLCNfolliculin | Niet vastgelegd | In 1 aandoening |
| HDChistidine decarboxylase | Niet vastgelegd | In 1 aandoening |
| MAPTmicrotubule associated protein tau | Niet vastgelegd | In 1 aandoening |
| MFSD8major facilitator superfamily domain containing 8 | Niet vastgelegd | In 1 aandoening |
| MT-TTmitochondrially encoded tRNA-Thr (ACN) | Niet vastgelegd | In 1 aandoening |
| PPT1palmitoyl-protein thioesterase 1 | Niet vastgelegd | In 1 aandoening |
| SIN3ASIN3 transcription regulator family member A | Niet vastgelegd | In 1 aandoening |
| SLITRK1SLIT and NTRK like family member 1 | Niet vastgelegd | In 1 aandoening |
| SNCAIPsynuclein alpha interacting protein | Niet vastgelegd | In 1 aandoening |
| TBPTATA-box binding protein | Niet vastgelegd | In 1 aandoening |
| TCF20transcription factor 20 | 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.
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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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