Kenmerk
Irritability
An emotional state characterized by negative feelings of heightened frustration, annoyance, or feeling upset, often triggered by internal factors (e.g., fatigue, hunger, unfulfilled desires) or external factors (e.g., social or environmental challenges). Irritability may be unpredictable, and is accompanied by a lowered threshold for emotional reactivity and observable features (speech, facial expressions, or psychomotor activity).
Samenvatting
- Ook bekend als
- Cranky, Easily annoyed, Easily bothered, Easily upset, Grumpy, Hot-temper, Irritable, Quick temper, Short fuse, Short tempered
- Lichaamssysteem
- Abnormality of the nervous system
ReferentiegenoomGRCh38hg38
Posities op gen- en variantpagina's volgen deze keuze, in deze browser.
Read the genes linked to Irritability, and the rest of your genome, with one test.
Vanaf $ 449Gratis verzending · Resultaten binnen 6–8 weken
Mijn Genome Test bestellen303 genen gekoppeld aan Irritability
Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Irritability 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 |
|---|---|---|
| AMPD2adenosine monophosphate deaminase 2 | Altijd | In 1 aandoening |
| ARHGEF15Rho guanine nucleotide exchange factor 15 | Altijd | In 1 aandoening |
| ARV1ARV1 fatty acid homeostasis modulator | Altijd | In 1 aandoening |
| ASNSasparagine synthetase (glutamine-hydrolyzing) | Altijd | In 1 aandoening |
| ATP5F1AATP synthase F1 subunit alpha | Altijd | In 1 aandoening |
| CACHD1cache domain containing 1 | Altijd | In 1 aandoening |
| COG4component of oligomeric golgi complex 4 | Altijd | In 2 aandoeningen |
| FAM177A1family with sequence similarity 177 member A1 | Altijd | In 1 aandoening |
| FBP2fructose-bisphosphatase 2 | Altijd | In 1 aandoening |
| FDFT1farnesyl-diphosphate farnesyltransferase 1 | Altijd | In 1 aandoening |
| FDXRferredoxin reductase | Altijd | In 1 aandoening |
| FEM1Bfem-1 homolog B | Altijd | In 1 aandoening |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Altijd | In 1 aandoening |
| GCSHglycine cleavage system protein H | Altijd | In 1 aandoening |
| HIBCH3-hydroxyisobutyryl-CoA hydrolase | Altijd | In 2 aandoeningen |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Altijd | In 1 aandoening |
| KDM6Blysine demethylase 6B | Altijd | In 1 aandoening |
| LRRC7leucine rich repeat containing 7 | Altijd | In 1 aandoening |
| LSM11LSM11, U7 small nuclear RNA associated | Altijd | In 2 aandoeningen |
| MCCC1methylcrotonyl-CoA carboxylase subunit 1 | Altijd | In 1 aandoening |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Altijd | In 1 aandoening |
| MED23mediator complex subunit 23 | Altijd | In 1 aandoening |
| MOCS2molybdenum cofactor synthesis 2 | Altijd | In 1 aandoening |
| NACC1nucleus accumbens associated 1 | Altijd | In 2 aandoeningen |
| NOTCH3notch receptor 3 | Altijd | In 1 aandoening |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Altijd | In 1 aandoening |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Altijd | In 1 aandoening |
| PI4K2Aphosphatidylinositol 4-kinase type 2 alpha | Altijd | In 1 aandoening |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Altijd | In 1 aandoening |
| RAB3ARAB3A, member RAS oncogene family | Altijd | In 1 aandoening |
| RNU2-2RNA, U2 small nuclear 2 | Altijd | In 1 aandoening |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Altijd | In 2 aandoeningen |
| SGSM3small G protein signaling modulator 3 | Altijd | In 1 aandoening |
| SLC25A19solute carrier family 25 member 19 | Altijd | In 2 aandoeningen |
| SMPD1sphingomyelin phosphodiesterase 1 | Altijd | In 2 aandoeningen |
| SPINK5serine peptidase inhibitor Kazal type 5 | Altijd | In 1 aandoening |
| SPOUT1SPOUT domain containing methyltransferase 1 | Altijd | In 1 aandoening |
| ST3GAL3ST3 beta-galactoside alpha-2,3-sialyltransferase 3 | Altijd | In 1 aandoening |
| ST3GAL5ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | Altijd | In 1 aandoening |
| TCN2transcobalamin 2 | Altijd | In 1 aandoening |
Toon nog 263 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| TM2D3TM2 domain containing 3 | Altijd | In 1 aandoening |
| TRMUtRNA mitochondrial 2-thiouridylase | Altijd | In 1 aandoening |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Altijd | In 1 aandoening |
| UNC13Aunc-13 homolog A | Altijd | In 1 aandoening |
| VPS50VPS50 subunit of EARP/GARPII complex | Altijd | In 1 aandoening |
| WASWASP actin nucleation promoting factor | Altijd | In 1 aandoening |
| YIF1BYip1 interacting factor homolog B, membrane trafficking protein | Altijd | In 1 aandoening |
| CHMP2Bcharged multivesicular body protein 2B | Heel vaak (80–99%) | In 1 aandoening |
| DDCdopa decarboxylase | Heel vaak (80–99%) | In 2 aandoeningen |
| GALCgalactosylceramidase | Heel vaak (80–99%) | In 2 aandoeningen |
| GRNgranulin precursor | Heel vaak (80–99%) | In 1 aandoening |
| HLCSholocarboxylase synthetase | Heel vaak (80–99%) | In 2 aandoeningen |
| MAPTmicrotubule associated protein tau | Heel vaak (80–99%) | In 4 aandoeningen |
| MECP2methyl-CpG binding protein 2 | Heel vaak (80–99%) | In 1 aandoening |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Heel vaak (80–99%) | In 2 aandoeningen |
| PSAPprosaposin | Heel vaak (80–99%) | In 1 aandoening |
| PSEN1presenilin 1 | Heel vaak (80–99%) | In 3 aandoeningen |
| SLC25A20solute carrier family 25 member 20 | Heel vaak (80–99%) | In 2 aandoeningen |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Heel vaak (80–99%) | In 1 aandoening |
| SQSTM1sequestosome 1 | Heel vaak (80–99%) | In 1 aandoening |
| TMEM106Btransmembrane protein 106B | Heel vaak (80–99%) | In 1 aandoening |
| TREM2triggering receptor expressed on myeloid cells 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| TYROBPtransmembrane immune signaling adaptor TYROBP | Heel vaak (80–99%) | In 1 aandoening |
| VCPvalosin containing protein | Heel vaak (80–99%) | In 1 aandoening |
| ADARadenosine deaminase RNA specific | Vaak (30–79%) | In 2 aandoeningen |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Vaak (30–79%) | In 2 aandoeningen |
| ALDH7A1aldehyde dehydrogenase 7 family member A1 | Vaak (30–79%) | In 1 aandoening |
| ASH1LASH1 like histone lysine methyltransferase | Vaak (30–79%) | In 1 aandoening |
| ASPAaspartoacylase | Vaak (30–79%) | In 1 aandoening |
| ATMATM serine/threonine kinase | Vaak (30–79%) | In 1 aandoening |
| AVParginine vasopressin | Vaak (30–79%) | In 1 aandoening |
| AVPR2arginine vasopressin receptor 2 | Vaak (30–79%) | In 2 aandoeningen |
| BMPR1Abone morphogenetic protein receptor type 1A | Vaak (30–79%) | In 1 aandoening |
| BRCA2BRCA2 DNA repair associated | Vaak (30–79%) | In 1 aandoening |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Vaak (30–79%) | In 2 aandoeningen |
| CAMK2Bcalcium/calmodulin dependent protein kinase II beta | Vaak (30–79%) | In 1 aandoening |
| CDKN2Acyclin dependent kinase inhibitor 2A | Vaak (30–79%) | In 1 aandoening |
| CDONcell adhesion associated, oncogene regulated | Vaak (30–79%) | In 4 aandoeningen |
| CHD2chromodomain helicase DNA binding protein 2 | Vaak (30–79%) | In 1 aandoening |
| CHEK2checkpoint kinase 2 | Vaak (30–79%) | In 1 aandoening |
| CPLX1complexin 1 | Vaak (30–79%) | In 1 aandoening |
| CRIPTOcripto, EGF-CFC family member | Vaak (30–79%) | In 4 aandoeningen |
| CTNNB1catenin beta 1 | Vaak (30–79%) | In 1 aandoening |
| CUX2cut like homeobox 2 | Vaak (30–79%) | In 1 aandoening |
| DISP1dispatched RND transporter family member 1 | Vaak (30–79%) | In 4 aandoeningen |
| DLL1delta like canonical Notch ligand 1 | Vaak (30–79%) | In 4 aandoeningen |
| DNM1dynamin 1 | Vaak (30–79%) | In 2 aandoeningen |
| EPCAMepithelial cell adhesion molecule | Vaak (30–79%) | In 2 aandoeningen |
| EXOC8exocyst complex component 8 | Vaak (30–79%) | In 1 aandoening |
| EXOSC8exosome component 8 | Vaak (30–79%) | In 1 aandoening |
| FGF8fibroblast growth factor 8 | Vaak (30–79%) | In 4 aandoeningen |
| FGFR1fibroblast growth factor receptor 1 | Vaak (30–79%) | In 2 aandoeningen |
| FIG4FIG4 phosphoinositide 5-phosphatase | Vaak (30–79%) | In 1 aandoening |
| FMR1fragile X messenger ribonucleoprotein 1 | Vaak (30–79%) | In 2 aandoeningen |
| FOXG1forkhead box G1 | Vaak (30–79%) | In 1 aandoening |
| FOXH1forkhead box H1 | Vaak (30–79%) | In 4 aandoeningen |
| GABRB3gamma-aminobutyric acid type A receptor subunit beta3 | Vaak (30–79%) | In 1 aandoening |
| GAS1growth arrest specific 1 | Vaak (30–79%) | In 4 aandoeningen |
| GBA1glucosylceramidase beta 1 | Vaak (30–79%) | In 1 aandoening |
| GCDHglutaryl-CoA dehydrogenase | Vaak (30–79%) | In 1 aandoening |
| GLI2GLI family zinc finger 2 | Vaak (30–79%) | In 4 aandoeningen |
| GRIA4glutamate ionotropic receptor AMPA type subunit 4 | Vaak (30–79%) | In 1 aandoening |
| GYS2glycogen synthase 2 | Vaak (30–79%) | In 1 aandoening |
| HIKESHIheat shock protein nuclear import factor hikeshi | Vaak (30–79%) | In 1 aandoening |
| HTThuntingtin | Vaak (30–79%) | In 2 aandoeningen |
| IFIH1interferon induced with helicase C domain 1 | Vaak (30–79%) | In 2 aandoeningen |
| KRASKRas proto-oncogene, GTPase | Vaak (30–79%) | In 1 aandoening |
| MAPK10mitogen-activated protein kinase 10 | Vaak (30–79%) | In 1 aandoening |
| MEFVMEFV innate immunity regulator, pyrin | Vaak (30–79%) | In 2 aandoeningen |
| MLH1mutL homolog 1 | Vaak (30–79%) | In 1 aandoening |
| MSH2mutS homolog 2 | Vaak (30–79%) | In 1 aandoening |
| MSH6mutS homolog 6 | Vaak (30–79%) | In 1 aandoening |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Vaak (30–79%) | In 1 aandoening |
| MTHFSmethenyltetrahydrofolate synthetase | Vaak (30–79%) | In 1 aandoening |
| MUTYHmutY DNA glycosylase | Vaak (30–79%) | In 1 aandoening |
| NDPnorrin cystine knot growth factor NDP | Vaak (30–79%) | In 1 aandoening |
| NDUFA2NADH:ubiquinone oxidoreductase subunit A2 | Vaak (30–79%) | In 1 aandoening |
| NODALnodal growth differentiation factor | Vaak (30–79%) | In 4 aandoeningen |
| NPATnuclear protein, coactivator of histone transcription | Vaak (30–79%) | In 1 aandoening |
| NRCAMneuronal cell adhesion molecule | Vaak (30–79%) | In 1 aandoening |
| PANK2pantothenate kinase 2 | Vaak (30–79%) | In 1 aandoening |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Vaak (30–79%) | In 1 aandoening |
| PLCH1phospholipase C eta 1 | Vaak (30–79%) | In 1 aandoening |
| PLPBPpyridoxal phosphate binding protein | Vaak (30–79%) | In 2 aandoeningen |
| PMS1PMS1 homolog 1, mismatch repair system component | Vaak (30–79%) | In 1 aandoening |
| PMS2PMS1 homolog 2, mismatch repair system component | Vaak (30–79%) | In 1 aandoening |
| POLD1DNA polymerase delta 1, catalytic subunit | Vaak (30–79%) | In 1 aandoening |
| POLEDNA polymerase epsilon, catalytic subunit | Vaak (30–79%) | In 1 aandoening |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Vaak (30–79%) | In 1 aandoening |
| PRNPprion protein (Kanno blood group) | Vaak (30–79%) | In 2 aandoeningen |
| PTCH1patched 1 | Vaak (30–79%) | In 4 aandoeningen |
| PTHparathyroid hormone | Vaak (30–79%) | In 1 aandoening |
| RNASEH2Aribonuclease H2 subunit A | Vaak (30–79%) | In 1 aandoening |
| RNASEH2Bribonuclease H2 subunit B | Vaak (30–79%) | In 1 aandoening |
| RNASEH2Cribonuclease H2 subunit C | Vaak (30–79%) | In 1 aandoening |
| RNF13ring finger protein 13 | Vaak (30–79%) | In 2 aandoeningen |
| RNU7-1RNA, U7 small nuclear 1 | Vaak (30–79%) | In 2 aandoeningen |
| RPS20ribosomal protein S20 | Vaak (30–79%) | In 1 aandoening |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Vaak (30–79%) | In 2 aandoeningen |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Vaak (30–79%) | In 1 aandoening |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Vaak (30–79%) | In 1 aandoening |
| SDHAF1succinate dehydrogenase complex assembly factor 1 | Vaak (30–79%) | In 2 aandoeningen |
| SEMA4Asemaphorin 4A | Vaak (30–79%) | In 1 aandoening |
| SHHsonic hedgehog signaling molecule | Vaak (30–79%) | In 4 aandoeningen |
| SIX3SIX homeobox 3 | Vaak (30–79%) | In 4 aandoeningen |
| SLC19A3solute carrier family 19 member 3 | Vaak (30–79%) | In 2 aandoeningen |
| SLC25A13solute carrier family 25 member 13 | Vaak (30–79%) | In 1 aandoening |
| SLC2A3solute carrier family 2 member 3 | Vaak (30–79%) | In 1 aandoening |
| SLC39A14solute carrier family 39 member 14 | Vaak (30–79%) | In 1 aandoening |
| SLC6A3solute carrier family 6 member 3 | Vaak (30–79%) | In 1 aandoening |
| SMC1Astructural maintenance of chromosomes 1A | Vaak (30–79%) | In 1 aandoening |
| STAG2STAG2 cohesin complex component | Vaak (30–79%) | In 2 aandoeningen |
| STILSTIL centriolar assembly protein | Vaak (30–79%) | In 4 aandoeningen |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Vaak (30–79%) | In 1 aandoening |
| TBC1D24TBC1 domain family member 24 | Vaak (30–79%) | In 1 aandoening |
| TERTtelomerase reverse transcriptase | Vaak (30–79%) | In 1 aandoening |
| TGFBR2transforming growth factor beta receptor 2 | Vaak (30–79%) | In 1 aandoening |
| TGIF1TGFB induced factor homeobox 1 | Vaak (30–79%) | In 4 aandoeningen |
| THtyrosine hydroxylase | Vaak (30–79%) | In 1 aandoening |
| TP53tumor protein p53 | Vaak (30–79%) | In 1 aandoening |
| TRANK1tetratricopeptide repeat and ankyrin repeat containing 1 | Vaak (30–79%) | In 1 aandoening |
| TREX1three prime repair exonuclease 1 | Vaak (30–79%) | In 2 aandoeningen |
| TRMT5tRNA methyltransferase 5 | Vaak (30–79%) | In 1 aandoening |
| TSEN15tRNA splicing endonuclease subunit 15 | Vaak (30–79%) | In 1 aandoening |
| TSPOAP1TSPO associated protein 1 | Vaak (30–79%) | In 1 aandoening |
| UBA5ubiquitin like modifier activating enzyme 5 | Vaak (30–79%) | In 1 aandoening |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Vaak (30–79%) | In 1 aandoening |
| ZIC2Zic family zinc finger 2 | Vaak (30–79%) | In 4 aandoeningen |
| ZNRF3zinc and ring finger 3 | Vaak (30–79%) | In 1 aandoening |
| ABCC6ATP binding cassette subfamily C member 6 | Soms (5–29%) | In 1 aandoening |
| ACTN4actinin alpha 4 | Soms (5–29%) | In 1 aandoening |
| ADNPactivity dependent neuroprotector homeobox | Soms (5–29%) | In 1 aandoening |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Soms (5–29%) | In 1 aandoening |
| ALKALK receptor tyrosine kinase | Soms (5–29%) | In 1 aandoening |
| ANKFY1ankyrin repeat and FYVE domain containing 1 | Soms (5–29%) | In 1 aandoening |
| ANLNanillin, actin binding protein | Soms (5–29%) | In 1 aandoening |
| APOL1apolipoprotein L1 | Soms (5–29%) | In 1 aandoening |
| ARHGAP24Rho GTPase activating protein 24 | Soms (5–29%) | In 1 aandoening |
| ARHGDIARho GDP dissociation inhibitor alpha | Soms (5–29%) | In 1 aandoening |
| AVILadvillin | Soms (5–29%) | In 1 aandoening |
| C4Acomplement C4A (Chido/Rodgers blood group) | Soms (5–29%) | In 1 aandoening |
| CARS1cysteinyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| CCR1C-C motif chemokine receptor 1 | Soms (5–29%) | In 1 aandoening |
| CD2APCD2 associated protein | Soms (5–29%) | In 1 aandoening |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Soms (5–29%) | In 1 aandoening |
| COL4A3collagen type IV alpha 3 chain | Soms (5–29%) | In 1 aandoening |
| COQ8Bcoenzyme Q8B | Soms (5–29%) | In 1 aandoening |
| CRB2crumbs cell polarity complex component 2 | Soms (5–29%) | In 1 aandoening |
| CYP27B1cytochrome P450 family 27 subfamily B member 1 | Soms (5–29%) | In 2 aandoeningen |
| CYP2R1cytochrome P450 family 2 subfamily R member 1 | Soms (5–29%) | In 1 aandoening |
| DAAM2dishevelled associated activator of morphogenesis 2 | Soms (5–29%) | In 1 aandoening |
| DARS1aspartyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| DCXdoublecortin | Soms (5–29%) | In 1 aandoening |
| DPYDdihydropyrimidine dehydrogenase | Soms (5–29%) | In 1 aandoening |
| EHMT1euchromatic histone lysine methyltransferase 1 | Soms (5–29%) | In 1 aandoening |
| EMP2epithelial membrane protein 2 | Soms (5–29%) | In 1 aandoening |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Soms (5–29%) | In 1 aandoening |
| ERAP1endoplasmic reticulum aminopeptidase 1 | Soms (5–29%) | In 1 aandoening |
| FASFas cell surface death receptor | Soms (5–29%) | In 1 aandoening |
| FBP1fructose-bisphosphatase 1 | Soms (5–29%) | In 2 aandoeningen |
| FOCADfocadhesin | Soms (5–29%) | In 1 aandoening |
| GAPVD1GTPase activating protein and VPS9 domains 1 | Soms (5–29%) | In 1 aandoening |
| GLRX5glutaredoxin 5 | Soms (5–29%) | In 1 aandoening |
| GNASGNAS complex locus | Soms (5–29%) | In 3 aandoeningen |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Soms (5–29%) | In 1 aandoening |
| HBBhemoglobin subunit beta | Soms (5–29%) | In 2 aandoeningen |
| HLA-Bmajor histocompatibility complex, class I, B | Soms (5–29%) | In 1 aandoening |
| HSPG2heparan sulfate proteoglycan 2 | Soms (5–29%) | In 1 aandoening |
| HTRA1HtrA serine peptidase 1 | Soms (5–29%) | In 1 aandoening |
| IFNGR1interferon gamma receptor 1 | Soms (5–29%) | In 1 aandoening |
| IL10interleukin 10 | Soms (5–29%) | In 1 aandoening |
| IL12Ainterleukin 12A | Soms (5–29%) | In 1 aandoening |
| IL12A-AS1IL12A antisense RNA 1 | Soms (5–29%) | In 1 aandoening |
| IL23Rinterleukin 23 receptor | Soms (5–29%) | In 1 aandoening |
| INF2inverted formin 2 | Soms (5–29%) | In 1 aandoening |
| KANK2KN motif and ankyrin repeat domains 2 | Soms (5–29%) | In 1 aandoening |
| KLRC4killer cell lectin like receptor C4 | Soms (5–29%) | In 1 aandoening |
| LAMA5laminin subunit alpha 5 | Soms (5–29%) | In 1 aandoening |
| LIN28Blin-28 RNA binding posttranscriptional regulator B | Soms (5–29%) | In 1 aandoening |
| LMO1LIM domain only 1 | Soms (5–29%) | In 1 aandoening |
| MAGI2membrane associated guanylate kinase, WW and PDZ domain containing 2 | Soms (5–29%) | In 1 aandoening |
| MED12mediator complex subunit 12 | Soms (5–29%) | In 1 aandoening |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Soms (5–29%) | In 1 aandoening |
| MYO1Emyosin IE | Soms (5–29%) | In 1 aandoening |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Soms (5–29%) | In 1 aandoening |
| NAA20N-alpha-acetyltransferase 20, NatB catalytic subunit | Soms (5–29%) | In 1 aandoening |
| NAXDNAD(P)HX dehydratase | Soms (5–29%) | In 1 aandoening |
| NAXENAD(P)HX epimerase | Soms (5–29%) | In 1 aandoening |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Soms (5–29%) | In 1 aandoening |
| NFIXnuclear factor I X | Soms (5–29%) | In 1 aandoening |
| NPHS1NPHS1 adhesion molecule, nephrin | Soms (5–29%) | In 1 aandoening |
| NPHS2NPHS2 stomatin family member, podocin | Soms (5–29%) | In 1 aandoening |
| NUP107nucleoporin 107 | Soms (5–29%) | In 1 aandoening |
| NUP133nucleoporin 133 | Soms (5–29%) | In 1 aandoening |
| NUP160nucleoporin 160 | Soms (5–29%) | In 1 aandoening |
| NUP205nucleoporin 205 | Soms (5–29%) | In 1 aandoening |
| NUP37nucleoporin 37 | Soms (5–29%) | In 1 aandoening |
| NUP85nucleoporin 85 | Soms (5–29%) | In 1 aandoening |
| NUP93nucleoporin 93 | Soms (5–29%) | In 1 aandoening |
| OTCornithine transcarbamylase | Soms (5–29%) | In 1 aandoening |
| PAX2paired box 2 | Soms (5–29%) | In 1 aandoening |
| PCBD1pterin-4 alpha-carbinolamine dehydratase 1 | Soms (5–29%) | In 1 aandoening |
| PHGDHphosphoglycerate dehydrogenase | Soms (5–29%) | In 1 aandoening |
| PHOX2Bpaired like homeobox 2B | Soms (5–29%) | In 1 aandoening |
| PLCE1phospholipase C epsilon 1 | Soms (5–29%) | In 1 aandoening |
| POGZpogo transposable element derived with ZNF domain | Soms (5–29%) | In 1 aandoening |
| POLR1ARNA polymerase I subunit A | Soms (5–29%) | In 1 aandoening |
| PRRT2proline rich transmembrane protein 2 | Soms (5–29%) | In 1 aandoening |
| PTPROprotein tyrosine phosphatase receptor type O | Soms (5–29%) | In 1 aandoening |
| PYCR2pyrroline-5-carboxylate reductase 2 | Soms (5–29%) | In 1 aandoening |
| PYGLglycogen phosphorylase L | Soms (5–29%) | In 1 aandoening |
| RNU4-2RNA, U4 small nuclear 2 | Soms (5–29%) | In 1 aandoening |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Soms (5–29%) | In 1 aandoening |
| SDHDsuccinate dehydrogenase complex subunit D | Soms (5–29%) | In 1 aandoening |
| SLC1A4solute carrier family 1 member 4 | Soms (5–29%) | In 2 aandoeningen |
| SLC2A1solute carrier family 2 member 1 | Soms (5–29%) | In 2 aandoeningen |
| SPTBN1spectrin beta, non-erythrocytic 1 | Soms (5–29%) | In 1 aandoening |
| STAT4signal transducer and activator of transcription 4 | Soms (5–29%) | In 1 aandoening |
| STX16syntaxin 16 | Soms (5–29%) | In 1 aandoening |
| TBC1D8BTBC1 domain family member 8B | Soms (5–29%) | In 1 aandoening |
| TLR4toll like receptor 4 | Soms (5–29%) | In 1 aandoening |
| TRPC6transient receptor potential cation channel subfamily C member 6 | Soms (5–29%) | In 1 aandoening |
| TTI2TELO2 interacting protein 2 | Soms (5–29%) | In 1 aandoening |
| UBAC2UBA domain containing 2 | Soms (5–29%) | In 1 aandoening |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Soms (5–29%) | In 1 aandoening |
| VPS13Avacuolar protein sorting 13 homolog A | Soms (5–29%) | In 1 aandoening |
| WT1WT1 transcription factor | Soms (5–29%) | In 1 aandoening |
| YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | Soms (5–29%) | In 1 aandoening |
| ABCC8ATP binding cassette subfamily C member 8 | Niet vastgelegd | In 1 aandoening |
| ACOX1acyl-CoA oxidase 1 | Niet vastgelegd | In 1 aandoening |
| ALPLalkaline phosphatase, biomineralization associated | Niet vastgelegd | In 1 aandoening |
| AQP2aquaporin 2 | Niet vastgelegd | In 1 aandoening |
| ARG1arginase 1 | Niet vastgelegd | In 1 aandoening |
| ASAH1N-acylsphingosine amidohydrolase 1 | Niet vastgelegd | In 1 aandoening |
| ASLargininosuccinate lyase | Niet vastgelegd | In 1 aandoening |
| ASS1argininosuccinate synthase 1 | Niet vastgelegd | In 1 aandoening |
| CLN8CLN8 transmembrane ER and ERGIC protein | Niet vastgelegd | In 1 aandoening |
| CPS1carbamoyl-phosphate synthase 1 | Niet vastgelegd | In 1 aandoening |
| DNMT1DNA methyltransferase 1 | Niet vastgelegd | In 1 aandoening |
| GCH1GTP cyclohydrolase 1 | Niet vastgelegd | In 1 aandoening |
| GLDCglycine decarboxylase | Niet vastgelegd | In 1 aandoening |
| HLA-DQB1major histocompatibility complex, class II, DQ beta 1 | Niet vastgelegd | In 1 aandoening |
| IBA57iron-sulfur cluster assembly factor IBA57 | Niet vastgelegd | In 1 aandoening |
| ITPAinosine triphosphatase | Niet vastgelegd | In 1 aandoening |
| JPH3junctophilin 3 | Niet vastgelegd | In 1 aandoening |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Niet vastgelegd | In 1 aandoening |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Niet vastgelegd | In 1 aandoening |
| PAHphenylalanine hydroxylase | Niet vastgelegd | In 1 aandoening |
| PPT1palmitoyl-protein thioesterase 1 | Niet vastgelegd | In 1 aandoening |
| PRF1perforin 1 | Niet vastgelegd | In 1 aandoening |
| PTS6-pyruvoyltetrahydropterin synthase | Niet vastgelegd | In 1 aandoening |
| QDPRquinoid dihydropteridine reductase | Niet vastgelegd | In 1 aandoening |
| SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | Niet vastgelegd | In 1 aandoening |
| SLC16A2solute carrier family 16 member 2 | Niet vastgelegd | In 1 aandoening |
| SLC1A2solute carrier family 1 member 2 | Niet vastgelegd | In 1 aandoening |
| SLC25A1solute carrier family 25 member 1 | Niet vastgelegd | In 1 aandoening |
| SLC39A4solute carrier family 39 member 4 | Niet vastgelegd | In 1 aandoening |
| SLC46A1solute carrier family 46 member 1 | Niet vastgelegd | In 1 aandoening |
| STUB1STIP1 homology and U-box containing protein 1 | Niet vastgelegd | In 1 aandoening |
| TK2thymidine kinase 2 | Niet vastgelegd | In 1 aandoening |
| TMEM237transmembrane protein 237 | Niet vastgelegd | In 1 aandoening |
| VDRvitamin D receptor | Niet vastgelegd | In 1 aandoening |
| VPS53VPS53 subunit of GARP complex | 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.
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.
Eén test. Een leven lang antwoorden.
Vanaf $ 449Gratis verzending · Resultaten binnen 6–8 weken