Cecha
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).
Podsumowanie
- Znana także jako
- Cranky, Easily annoyed, Easily bothered, Easily upset, Grumpy, Hot-temper, Irritable, Quick temper, Short fuse, Short tempered
- Układ organizmu
- Abnormality of the nervous system
Genom referencyjnyGRCh38hg38
Pozycje na stronach genów i wariantów zależą od tego wyboru, w tej przeglądarce.
Read the genes linked to Irritability, and the rest of your genome, with one test.
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Zamawiam Genome Test303 genów powiązanych z Irritability
Zmiany w tych genach powodują rzadkie choroby, w których występuje Irritability. Większość osób z tą cechą nie ma żadnej z tych chorób, a gen z tej listy nic nie mówi o czyimkolwiek własnym genomie.
| Gen | Jak często występuje | Choroby |
|---|---|---|
| AMPD2adenosine monophosphate deaminase 2 | Zawsze | W 1 chorobie |
| ARHGEF15Rho guanine nucleotide exchange factor 15 | Zawsze | W 1 chorobie |
| ARV1ARV1 fatty acid homeostasis modulator | Zawsze | W 1 chorobie |
| ASNSasparagine synthetase (glutamine-hydrolyzing) | Zawsze | W 1 chorobie |
| ATP5F1AATP synthase F1 subunit alpha | Zawsze | W 1 chorobie |
| CACHD1cache domain containing 1 | Zawsze | W 1 chorobie |
| COG4component of oligomeric golgi complex 4 | Zawsze | W 2 chorobach |
| FAM177A1family with sequence similarity 177 member A1 | Zawsze | W 1 chorobie |
| FBP2fructose-bisphosphatase 2 | Zawsze | W 1 chorobie |
| FDFT1farnesyl-diphosphate farnesyltransferase 1 | Zawsze | W 1 chorobie |
| FDXRferredoxin reductase | Zawsze | W 1 chorobie |
| FEM1Bfem-1 homolog B | Zawsze | W 1 chorobie |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Zawsze | W 1 chorobie |
| GCSHglycine cleavage system protein H | Zawsze | W 1 chorobie |
| HIBCH3-hydroxyisobutyryl-CoA hydrolase | Zawsze | W 2 chorobach |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Zawsze | W 1 chorobie |
| KDM6Blysine demethylase 6B | Zawsze | W 1 chorobie |
| LRRC7leucine rich repeat containing 7 | Zawsze | W 1 chorobie |
| LSM11LSM11, U7 small nuclear RNA associated | Zawsze | W 2 chorobach |
| MCCC1methylcrotonyl-CoA carboxylase subunit 1 | Zawsze | W 1 chorobie |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Zawsze | W 1 chorobie |
| MED23mediator complex subunit 23 | Zawsze | W 1 chorobie |
| MOCS2molybdenum cofactor synthesis 2 | Zawsze | W 1 chorobie |
| NACC1nucleus accumbens associated 1 | Zawsze | W 2 chorobach |
| NOTCH3notch receptor 3 | Zawsze | W 1 chorobie |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Zawsze | W 1 chorobie |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Zawsze | W 1 chorobie |
| PI4K2Aphosphatidylinositol 4-kinase type 2 alpha | Zawsze | W 1 chorobie |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Zawsze | W 1 chorobie |
| RAB3ARAB3A, member RAS oncogene family | Zawsze | W 1 chorobie |
| RNU2-2RNA, U2 small nuclear 2 | Zawsze | W 1 chorobie |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Zawsze | W 2 chorobach |
| SGSM3small G protein signaling modulator 3 | Zawsze | W 1 chorobie |
| SLC25A19solute carrier family 25 member 19 | Zawsze | W 2 chorobach |
| SMPD1sphingomyelin phosphodiesterase 1 | Zawsze | W 2 chorobach |
| SPINK5serine peptidase inhibitor Kazal type 5 | Zawsze | W 1 chorobie |
| SPOUT1SPOUT domain containing methyltransferase 1 | Zawsze | W 1 chorobie |
| ST3GAL3ST3 beta-galactoside alpha-2,3-sialyltransferase 3 | Zawsze | W 1 chorobie |
| ST3GAL5ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | Zawsze | W 1 chorobie |
| TCN2transcobalamin 2 | Zawsze | W 1 chorobie |
Pokaż jeszcze 263 genów
| Gen | Jak często występuje | Choroby |
|---|---|---|
| TM2D3TM2 domain containing 3 | Zawsze | W 1 chorobie |
| TRMUtRNA mitochondrial 2-thiouridylase | Zawsze | W 1 chorobie |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Zawsze | W 1 chorobie |
| UNC13Aunc-13 homolog A | Zawsze | W 1 chorobie |
| VPS50VPS50 subunit of EARP/GARPII complex | Zawsze | W 1 chorobie |
| WASWASP actin nucleation promoting factor | Zawsze | W 1 chorobie |
| YIF1BYip1 interacting factor homolog B, membrane trafficking protein | Zawsze | W 1 chorobie |
| CHMP2Bcharged multivesicular body protein 2B | Bardzo często (80–99%) | W 1 chorobie |
| DDCdopa decarboxylase | Bardzo często (80–99%) | W 2 chorobach |
| GALCgalactosylceramidase | Bardzo często (80–99%) | W 2 chorobach |
| GRNgranulin precursor | Bardzo często (80–99%) | W 1 chorobie |
| HLCSholocarboxylase synthetase | Bardzo często (80–99%) | W 2 chorobach |
| MAPTmicrotubule associated protein tau | Bardzo często (80–99%) | W 4 chorobach |
| MECP2methyl-CpG binding protein 2 | Bardzo często (80–99%) | W 1 chorobie |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Bardzo często (80–99%) | W 2 chorobach |
| PSAPprosaposin | Bardzo często (80–99%) | W 1 chorobie |
| PSEN1presenilin 1 | Bardzo często (80–99%) | W 3 chorobach |
| SLC25A20solute carrier family 25 member 20 | Bardzo często (80–99%) | W 2 chorobach |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Bardzo często (80–99%) | W 1 chorobie |
| SQSTM1sequestosome 1 | Bardzo często (80–99%) | W 1 chorobie |
| TMEM106Btransmembrane protein 106B | Bardzo często (80–99%) | W 1 chorobie |
| TREM2triggering receptor expressed on myeloid cells 2 | Bardzo często (80–99%) | W 2 chorobach |
| TYROBPtransmembrane immune signaling adaptor TYROBP | Bardzo często (80–99%) | W 1 chorobie |
| VCPvalosin containing protein | Bardzo często (80–99%) | W 1 chorobie |
| ADARadenosine deaminase RNA specific | Często (30–79%) | W 2 chorobach |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Często (30–79%) | W 2 chorobach |
| ALDH7A1aldehyde dehydrogenase 7 family member A1 | Często (30–79%) | W 1 chorobie |
| ASH1LASH1 like histone lysine methyltransferase | Często (30–79%) | W 1 chorobie |
| ASPAaspartoacylase | Często (30–79%) | W 1 chorobie |
| ATMATM serine/threonine kinase | Często (30–79%) | W 1 chorobie |
| AVParginine vasopressin | Często (30–79%) | W 1 chorobie |
| AVPR2arginine vasopressin receptor 2 | Często (30–79%) | W 2 chorobach |
| BMPR1Abone morphogenetic protein receptor type 1A | Często (30–79%) | W 1 chorobie |
| BRCA2BRCA2 DNA repair associated | Często (30–79%) | W 1 chorobie |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Często (30–79%) | W 2 chorobach |
| CAMK2Bcalcium/calmodulin dependent protein kinase II beta | Często (30–79%) | W 1 chorobie |
| CDKN2Acyclin dependent kinase inhibitor 2A | Często (30–79%) | W 1 chorobie |
| CDONcell adhesion associated, oncogene regulated | Często (30–79%) | W 4 chorobach |
| CHD2chromodomain helicase DNA binding protein 2 | Często (30–79%) | W 1 chorobie |
| CHEK2checkpoint kinase 2 | Często (30–79%) | W 1 chorobie |
| CPLX1complexin 1 | Często (30–79%) | W 1 chorobie |
| CRIPTOcripto, EGF-CFC family member | Często (30–79%) | W 4 chorobach |
| CTNNB1catenin beta 1 | Często (30–79%) | W 1 chorobie |
| CUX2cut like homeobox 2 | Często (30–79%) | W 1 chorobie |
| DISP1dispatched RND transporter family member 1 | Często (30–79%) | W 4 chorobach |
| DLL1delta like canonical Notch ligand 1 | Często (30–79%) | W 4 chorobach |
| DNM1dynamin 1 | Często (30–79%) | W 2 chorobach |
| EPCAMepithelial cell adhesion molecule | Często (30–79%) | W 2 chorobach |
| EXOC8exocyst complex component 8 | Często (30–79%) | W 1 chorobie |
| EXOSC8exosome component 8 | Często (30–79%) | W 1 chorobie |
| FGF8fibroblast growth factor 8 | Często (30–79%) | W 4 chorobach |
| FGFR1fibroblast growth factor receptor 1 | Często (30–79%) | W 2 chorobach |
| FIG4FIG4 phosphoinositide 5-phosphatase | Często (30–79%) | W 1 chorobie |
| FMR1fragile X messenger ribonucleoprotein 1 | Często (30–79%) | W 2 chorobach |
| FOXG1forkhead box G1 | Często (30–79%) | W 1 chorobie |
| FOXH1forkhead box H1 | Często (30–79%) | W 4 chorobach |
| GABRB3gamma-aminobutyric acid type A receptor subunit beta3 | Często (30–79%) | W 1 chorobie |
| GAS1growth arrest specific 1 | Często (30–79%) | W 4 chorobach |
| GBA1glucosylceramidase beta 1 | Często (30–79%) | W 1 chorobie |
| GCDHglutaryl-CoA dehydrogenase | Często (30–79%) | W 1 chorobie |
| GLI2GLI family zinc finger 2 | Często (30–79%) | W 4 chorobach |
| GRIA4glutamate ionotropic receptor AMPA type subunit 4 | Często (30–79%) | W 1 chorobie |
| GYS2glycogen synthase 2 | Często (30–79%) | W 1 chorobie |
| HIKESHIheat shock protein nuclear import factor hikeshi | Często (30–79%) | W 1 chorobie |
| HTThuntingtin | Często (30–79%) | W 2 chorobach |
| IFIH1interferon induced with helicase C domain 1 | Często (30–79%) | W 2 chorobach |
| KRASKRas proto-oncogene, GTPase | Często (30–79%) | W 1 chorobie |
| MAPK10mitogen-activated protein kinase 10 | Często (30–79%) | W 1 chorobie |
| MEFVMEFV innate immunity regulator, pyrin | Często (30–79%) | W 2 chorobach |
| MLH1mutL homolog 1 | Często (30–79%) | W 1 chorobie |
| MSH2mutS homolog 2 | Często (30–79%) | W 1 chorobie |
| MSH6mutS homolog 6 | Często (30–79%) | W 1 chorobie |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Często (30–79%) | W 1 chorobie |
| MTHFSmethenyltetrahydrofolate synthetase | Często (30–79%) | W 1 chorobie |
| MUTYHmutY DNA glycosylase | Często (30–79%) | W 1 chorobie |
| NDPnorrin cystine knot growth factor NDP | Często (30–79%) | W 1 chorobie |
| NDUFA2NADH:ubiquinone oxidoreductase subunit A2 | Często (30–79%) | W 1 chorobie |
| NODALnodal growth differentiation factor | Często (30–79%) | W 4 chorobach |
| NPATnuclear protein, coactivator of histone transcription | Często (30–79%) | W 1 chorobie |
| NRCAMneuronal cell adhesion molecule | Często (30–79%) | W 1 chorobie |
| PANK2pantothenate kinase 2 | Często (30–79%) | W 1 chorobie |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Często (30–79%) | W 1 chorobie |
| PLCH1phospholipase C eta 1 | Często (30–79%) | W 1 chorobie |
| PLPBPpyridoxal phosphate binding protein | Często (30–79%) | W 2 chorobach |
| PMS1PMS1 homolog 1, mismatch repair system component | Często (30–79%) | W 1 chorobie |
| PMS2PMS1 homolog 2, mismatch repair system component | Często (30–79%) | W 1 chorobie |
| POLD1DNA polymerase delta 1, catalytic subunit | Często (30–79%) | W 1 chorobie |
| POLEDNA polymerase epsilon, catalytic subunit | Często (30–79%) | W 1 chorobie |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Często (30–79%) | W 1 chorobie |
| PRNPprion protein (Kanno blood group) | Często (30–79%) | W 2 chorobach |
| PTCH1patched 1 | Często (30–79%) | W 4 chorobach |
| PTHparathyroid hormone | Często (30–79%) | W 1 chorobie |
| RNASEH2Aribonuclease H2 subunit A | Często (30–79%) | W 1 chorobie |
| RNASEH2Bribonuclease H2 subunit B | Często (30–79%) | W 1 chorobie |
| RNASEH2Cribonuclease H2 subunit C | Często (30–79%) | W 1 chorobie |
| RNF13ring finger protein 13 | Często (30–79%) | W 2 chorobach |
| RNU7-1RNA, U7 small nuclear 1 | Często (30–79%) | W 2 chorobach |
| RPS20ribosomal protein S20 | Często (30–79%) | W 1 chorobie |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Często (30–79%) | W 2 chorobach |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Często (30–79%) | W 1 chorobie |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Często (30–79%) | W 1 chorobie |
| SDHAF1succinate dehydrogenase complex assembly factor 1 | Często (30–79%) | W 2 chorobach |
| SEMA4Asemaphorin 4A | Często (30–79%) | W 1 chorobie |
| SHHsonic hedgehog signaling molecule | Często (30–79%) | W 4 chorobach |
| SIX3SIX homeobox 3 | Często (30–79%) | W 4 chorobach |
| SLC19A3solute carrier family 19 member 3 | Często (30–79%) | W 2 chorobach |
| SLC25A13solute carrier family 25 member 13 | Często (30–79%) | W 1 chorobie |
| SLC2A3solute carrier family 2 member 3 | Często (30–79%) | W 1 chorobie |
| SLC39A14solute carrier family 39 member 14 | Często (30–79%) | W 1 chorobie |
| SLC6A3solute carrier family 6 member 3 | Często (30–79%) | W 1 chorobie |
| SMC1Astructural maintenance of chromosomes 1A | Często (30–79%) | W 1 chorobie |
| STAG2STAG2 cohesin complex component | Często (30–79%) | W 2 chorobach |
| STILSTIL centriolar assembly protein | Często (30–79%) | W 4 chorobach |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Często (30–79%) | W 1 chorobie |
| TBC1D24TBC1 domain family member 24 | Często (30–79%) | W 1 chorobie |
| TERTtelomerase reverse transcriptase | Często (30–79%) | W 1 chorobie |
| TGFBR2transforming growth factor beta receptor 2 | Często (30–79%) | W 1 chorobie |
| TGIF1TGFB induced factor homeobox 1 | Często (30–79%) | W 4 chorobach |
| THtyrosine hydroxylase | Często (30–79%) | W 1 chorobie |
| TP53tumor protein p53 | Często (30–79%) | W 1 chorobie |
| TRANK1tetratricopeptide repeat and ankyrin repeat containing 1 | Często (30–79%) | W 1 chorobie |
| TREX1three prime repair exonuclease 1 | Często (30–79%) | W 2 chorobach |
| TRMT5tRNA methyltransferase 5 | Często (30–79%) | W 1 chorobie |
| TSEN15tRNA splicing endonuclease subunit 15 | Często (30–79%) | W 1 chorobie |
| TSPOAP1TSPO associated protein 1 | Często (30–79%) | W 1 chorobie |
| UBA5ubiquitin like modifier activating enzyme 5 | Często (30–79%) | W 1 chorobie |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Często (30–79%) | W 1 chorobie |
| ZIC2Zic family zinc finger 2 | Często (30–79%) | W 4 chorobach |
| ZNRF3zinc and ring finger 3 | Często (30–79%) | W 1 chorobie |
| ABCC6ATP binding cassette subfamily C member 6 | Czasami (5–29%) | W 1 chorobie |
| ACTN4actinin alpha 4 | Czasami (5–29%) | W 1 chorobie |
| ADNPactivity dependent neuroprotector homeobox | Czasami (5–29%) | W 1 chorobie |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Czasami (5–29%) | W 1 chorobie |
| ALKALK receptor tyrosine kinase | Czasami (5–29%) | W 1 chorobie |
| ANKFY1ankyrin repeat and FYVE domain containing 1 | Czasami (5–29%) | W 1 chorobie |
| ANLNanillin, actin binding protein | Czasami (5–29%) | W 1 chorobie |
| APOL1apolipoprotein L1 | Czasami (5–29%) | W 1 chorobie |
| ARHGAP24Rho GTPase activating protein 24 | Czasami (5–29%) | W 1 chorobie |
| ARHGDIARho GDP dissociation inhibitor alpha | Czasami (5–29%) | W 1 chorobie |
| AVILadvillin | Czasami (5–29%) | W 1 chorobie |
| C4Acomplement C4A (Chido/Rodgers blood group) | Czasami (5–29%) | W 1 chorobie |
| CARS1cysteinyl-tRNA synthetase 1 | Czasami (5–29%) | W 1 chorobie |
| CCR1C-C motif chemokine receptor 1 | Czasami (5–29%) | W 1 chorobie |
| CD2APCD2 associated protein | Czasami (5–29%) | W 1 chorobie |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Czasami (5–29%) | W 1 chorobie |
| COL4A3collagen type IV alpha 3 chain | Czasami (5–29%) | W 1 chorobie |
| COQ8Bcoenzyme Q8B | Czasami (5–29%) | W 1 chorobie |
| CRB2crumbs cell polarity complex component 2 | Czasami (5–29%) | W 1 chorobie |
| CYP27B1cytochrome P450 family 27 subfamily B member 1 | Czasami (5–29%) | W 2 chorobach |
| CYP2R1cytochrome P450 family 2 subfamily R member 1 | Czasami (5–29%) | W 1 chorobie |
| DAAM2dishevelled associated activator of morphogenesis 2 | Czasami (5–29%) | W 1 chorobie |
| DARS1aspartyl-tRNA synthetase 1 | Czasami (5–29%) | W 1 chorobie |
| DCXdoublecortin | Czasami (5–29%) | W 1 chorobie |
| DPYDdihydropyrimidine dehydrogenase | Czasami (5–29%) | W 1 chorobie |
| EHMT1euchromatic histone lysine methyltransferase 1 | Czasami (5–29%) | W 1 chorobie |
| EMP2epithelial membrane protein 2 | Czasami (5–29%) | W 1 chorobie |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Czasami (5–29%) | W 1 chorobie |
| ERAP1endoplasmic reticulum aminopeptidase 1 | Czasami (5–29%) | W 1 chorobie |
| FASFas cell surface death receptor | Czasami (5–29%) | W 1 chorobie |
| FBP1fructose-bisphosphatase 1 | Czasami (5–29%) | W 2 chorobach |
| FOCADfocadhesin | Czasami (5–29%) | W 1 chorobie |
| GAPVD1GTPase activating protein and VPS9 domains 1 | Czasami (5–29%) | W 1 chorobie |
| GLRX5glutaredoxin 5 | Czasami (5–29%) | W 1 chorobie |
| GNASGNAS complex locus | Czasami (5–29%) | W 3 chorobach |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Czasami (5–29%) | W 1 chorobie |
| HBBhemoglobin subunit beta | Czasami (5–29%) | W 2 chorobach |
| HLA-Bmajor histocompatibility complex, class I, B | Czasami (5–29%) | W 1 chorobie |
| HSPG2heparan sulfate proteoglycan 2 | Czasami (5–29%) | W 1 chorobie |
| HTRA1HtrA serine peptidase 1 | Czasami (5–29%) | W 1 chorobie |
| IFNGR1interferon gamma receptor 1 | Czasami (5–29%) | W 1 chorobie |
| IL10interleukin 10 | Czasami (5–29%) | W 1 chorobie |
| IL12Ainterleukin 12A | Czasami (5–29%) | W 1 chorobie |
| IL12A-AS1IL12A antisense RNA 1 | Czasami (5–29%) | W 1 chorobie |
| IL23Rinterleukin 23 receptor | Czasami (5–29%) | W 1 chorobie |
| INF2inverted formin 2 | Czasami (5–29%) | W 1 chorobie |
| KANK2KN motif and ankyrin repeat domains 2 | Czasami (5–29%) | W 1 chorobie |
| KLRC4killer cell lectin like receptor C4 | Czasami (5–29%) | W 1 chorobie |
| LAMA5laminin subunit alpha 5 | Czasami (5–29%) | W 1 chorobie |
| LIN28Blin-28 RNA binding posttranscriptional regulator B | Czasami (5–29%) | W 1 chorobie |
| LMO1LIM domain only 1 | Czasami (5–29%) | W 1 chorobie |
| MAGI2membrane associated guanylate kinase, WW and PDZ domain containing 2 | Czasami (5–29%) | W 1 chorobie |
| MED12mediator complex subunit 12 | Czasami (5–29%) | W 1 chorobie |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Czasami (5–29%) | W 1 chorobie |
| MYO1Emyosin IE | Czasami (5–29%) | W 1 chorobie |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Czasami (5–29%) | W 1 chorobie |
| NAA20N-alpha-acetyltransferase 20, NatB catalytic subunit | Czasami (5–29%) | W 1 chorobie |
| NAXDNAD(P)HX dehydratase | Czasami (5–29%) | W 1 chorobie |
| NAXENAD(P)HX epimerase | Czasami (5–29%) | W 1 chorobie |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Czasami (5–29%) | W 1 chorobie |
| NFIXnuclear factor I X | Czasami (5–29%) | W 1 chorobie |
| NPHS1NPHS1 adhesion molecule, nephrin | Czasami (5–29%) | W 1 chorobie |
| NPHS2NPHS2 stomatin family member, podocin | Czasami (5–29%) | W 1 chorobie |
| NUP107nucleoporin 107 | Czasami (5–29%) | W 1 chorobie |
| NUP133nucleoporin 133 | Czasami (5–29%) | W 1 chorobie |
| NUP160nucleoporin 160 | Czasami (5–29%) | W 1 chorobie |
| NUP205nucleoporin 205 | Czasami (5–29%) | W 1 chorobie |
| NUP37nucleoporin 37 | Czasami (5–29%) | W 1 chorobie |
| NUP85nucleoporin 85 | Czasami (5–29%) | W 1 chorobie |
| NUP93nucleoporin 93 | Czasami (5–29%) | W 1 chorobie |
| OTCornithine transcarbamylase | Czasami (5–29%) | W 1 chorobie |
| PAX2paired box 2 | Czasami (5–29%) | W 1 chorobie |
| PCBD1pterin-4 alpha-carbinolamine dehydratase 1 | Czasami (5–29%) | W 1 chorobie |
| PHGDHphosphoglycerate dehydrogenase | Czasami (5–29%) | W 1 chorobie |
| PHOX2Bpaired like homeobox 2B | Czasami (5–29%) | W 1 chorobie |
| PLCE1phospholipase C epsilon 1 | Czasami (5–29%) | W 1 chorobie |
| POGZpogo transposable element derived with ZNF domain | Czasami (5–29%) | W 1 chorobie |
| POLR1ARNA polymerase I subunit A | Czasami (5–29%) | W 1 chorobie |
| PRRT2proline rich transmembrane protein 2 | Czasami (5–29%) | W 1 chorobie |
| PTPROprotein tyrosine phosphatase receptor type O | Czasami (5–29%) | W 1 chorobie |
| PYCR2pyrroline-5-carboxylate reductase 2 | Czasami (5–29%) | W 1 chorobie |
| PYGLglycogen phosphorylase L | Czasami (5–29%) | W 1 chorobie |
| RNU4-2RNA, U4 small nuclear 2 | Czasami (5–29%) | W 1 chorobie |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Czasami (5–29%) | W 1 chorobie |
| SDHDsuccinate dehydrogenase complex subunit D | Czasami (5–29%) | W 1 chorobie |
| SLC1A4solute carrier family 1 member 4 | Czasami (5–29%) | W 2 chorobach |
| SLC2A1solute carrier family 2 member 1 | Czasami (5–29%) | W 2 chorobach |
| SPTBN1spectrin beta, non-erythrocytic 1 | Czasami (5–29%) | W 1 chorobie |
| STAT4signal transducer and activator of transcription 4 | Czasami (5–29%) | W 1 chorobie |
| STX16syntaxin 16 | Czasami (5–29%) | W 1 chorobie |
| TBC1D8BTBC1 domain family member 8B | Czasami (5–29%) | W 1 chorobie |
| TLR4toll like receptor 4 | Czasami (5–29%) | W 1 chorobie |
| TRPC6transient receptor potential cation channel subfamily C member 6 | Czasami (5–29%) | W 1 chorobie |
| TTI2TELO2 interacting protein 2 | Czasami (5–29%) | W 1 chorobie |
| UBAC2UBA domain containing 2 | Czasami (5–29%) | W 1 chorobie |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Czasami (5–29%) | W 1 chorobie |
| VPS13Avacuolar protein sorting 13 homolog A | Czasami (5–29%) | W 1 chorobie |
| WT1WT1 transcription factor | Czasami (5–29%) | W 1 chorobie |
| YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | Czasami (5–29%) | W 1 chorobie |
| ABCC8ATP binding cassette subfamily C member 8 | Nie odnotowano | W 1 chorobie |
| ACOX1acyl-CoA oxidase 1 | Nie odnotowano | W 1 chorobie |
| ALPLalkaline phosphatase, biomineralization associated | Nie odnotowano | W 1 chorobie |
| AQP2aquaporin 2 | Nie odnotowano | W 1 chorobie |
| ARG1arginase 1 | Nie odnotowano | W 1 chorobie |
| ASAH1N-acylsphingosine amidohydrolase 1 | Nie odnotowano | W 1 chorobie |
| ASLargininosuccinate lyase | Nie odnotowano | W 1 chorobie |
| ASS1argininosuccinate synthase 1 | Nie odnotowano | W 1 chorobie |
| CLN8CLN8 transmembrane ER and ERGIC protein | Nie odnotowano | W 1 chorobie |
| CPS1carbamoyl-phosphate synthase 1 | Nie odnotowano | W 1 chorobie |
| DNMT1DNA methyltransferase 1 | Nie odnotowano | W 1 chorobie |
| GCH1GTP cyclohydrolase 1 | Nie odnotowano | W 1 chorobie |
| GLDCglycine decarboxylase | Nie odnotowano | W 1 chorobie |
| HLA-DQB1major histocompatibility complex, class II, DQ beta 1 | Nie odnotowano | W 1 chorobie |
| IBA57iron-sulfur cluster assembly factor IBA57 | Nie odnotowano | W 1 chorobie |
| ITPAinosine triphosphatase | Nie odnotowano | W 1 chorobie |
| JPH3junctophilin 3 | Nie odnotowano | W 1 chorobie |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Nie odnotowano | W 1 chorobie |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Nie odnotowano | W 1 chorobie |
| PAHphenylalanine hydroxylase | Nie odnotowano | W 1 chorobie |
| PPT1palmitoyl-protein thioesterase 1 | Nie odnotowano | W 1 chorobie |
| PRF1perforin 1 | Nie odnotowano | W 1 chorobie |
| PTS6-pyruvoyltetrahydropterin synthase | Nie odnotowano | W 1 chorobie |
| QDPRquinoid dihydropteridine reductase | Nie odnotowano | W 1 chorobie |
| SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | Nie odnotowano | W 1 chorobie |
| SLC16A2solute carrier family 16 member 2 | Nie odnotowano | W 1 chorobie |
| SLC1A2solute carrier family 1 member 2 | Nie odnotowano | W 1 chorobie |
| SLC25A1solute carrier family 25 member 1 | Nie odnotowano | W 1 chorobie |
| SLC39A4solute carrier family 39 member 4 | Nie odnotowano | W 1 chorobie |
| SLC46A1solute carrier family 46 member 1 | Nie odnotowano | W 1 chorobie |
| STUB1STIP1 homology and U-box containing protein 1 | Nie odnotowano | W 1 chorobie |
| TK2thymidine kinase 2 | Nie odnotowano | W 1 chorobie |
| TMEM237transmembrane protein 237 | Nie odnotowano | W 1 chorobie |
| VDRvitamin D receptor | Nie odnotowano | W 1 chorobie |
| VPS53VPS53 subunit of GARP complex | Nie odnotowano | W 1 chorobie |
Jak często występuje wśród osób z jedną z chorób związanych z tym genem, najczęściej spośród wszystkich, według danych Human Phenotype Ontology. Te strony opisują cechy i badania, na których się opierają; nie są diagnozą, a w sprawie objawów należy zwrócić się do lekarza lub doradcy genetycznego.
Cechy nadrzędne
Skąd pochodzą te dane
- Human Phenotype Ontology, wydanie 2026-09-01: cecha, jej nazwy, definicja oraz geny z nią powiązane. Więcej informacji znajdą Państwo na stronie hpo.jax.org.
- Wydanie danych 2026.10.16-c6eea6bf.
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