Cecha
Difficulty sleeping
Nazwa kliniczna: Sleep disturbance
An abnormal pattern in the quality, quantity, or characteristics of sleep.
Podsumowanie
- Znana także jako
- Trouble sleeping, Sleep abnormality, Sleep disturbances, Sleep dysfunction, Sleep-wake disturbance
- Układ organizmu
- Abnormality of the nervous system
Read the genes linked to Difficulty sleeping, and the rest of your genome, with one test.
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Zamawiam Genome Test343 genów powiązanych z Difficulty sleeping
Zmiany w tych genach powodują rzadkie choroby, w których występuje Difficulty sleeping. 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 |
|---|---|---|
| ACBD6acyl-CoA binding domain containing 6 | Zawsze | W 1 chorobie |
| AHDC1AT-hook DNA binding motif containing 1 | Zawsze | W 1 chorobie |
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Zawsze | W 1 chorobie |
| ANK3ankyrin 3 | Zawsze | W 2 chorobach |
| BAIAP2BAR/IMD domain containing adaptor protein 2 | Zawsze | W 1 chorobie |
| CHD8chromodomain helicase DNA binding protein 8 | Zawsze | W 2 chorobach |
| DEAF1DEAF1 transcription factor | Zawsze | W 3 chorobach |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Zawsze | W 1 chorobie |
| EMC10ER membrane protein complex subunit 10 | Zawsze | W 1 chorobie |
| FDXRferredoxin reductase | Zawsze | W 1 chorobie |
| FRYLFRY like transcription coactivator | Zawsze | W 1 chorobie |
| GNSglucosamine (N-acetyl)-6-sulfatase | Zawsze | W 1 chorobie |
| GRIA1glutamate ionotropic receptor AMPA type subunit 1 | Zawsze | W 2 chorobach |
| HNRNPCheterogeneous nuclear ribonucleoprotein C | Zawsze | W 1 chorobie |
| HTThuntingtin | Zawsze | W 1 chorobie |
| JKAMPJNK1/MAPK8 associated membrane protein | Zawsze | W 1 chorobie |
| LIASlipoic acid synthetase | Zawsze | W 1 chorobie |
| MED16mediator complex subunit 16 | Zawsze | W 1 chorobie |
| MED23mediator complex subunit 23 | Zawsze | W 1 chorobie |
| SATB2SATB homeobox 2 | Zawsze | W 3 chorobach |
| SLC18A2solute carrier family 18 member A2 | Zawsze | W 2 chorobach |
| SLC32A1solute carrier family 32 member 1 | Zawsze | W 2 chorobach |
| TFE3transcription factor binding to IGHM enhancer 3 | Zawsze | W 1 chorobie |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Zawsze | W 1 chorobie |
| UQCC3ubiquinol-cytochrome c reductase complex assembly factor 3 | Zawsze | W 1 chorobie |
| VPS4Avacuolar protein sorting 4 homolog A | Zawsze | W 1 chorobie |
| VRK1VRK serine/threonine kinase 1 | Zawsze | W 1 chorobie |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Zawsze | W 1 chorobie |
| YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | Zawsze | W 1 chorobie |
| ZMYM3zinc finger MYM-type containing 3 | Zawsze | W 1 chorobie |
| ATP9AATPase phospholipid transporting 9A | Bardzo często (80–99%) | W 1 chorobie |
| CDKL5cyclin dependent kinase like 5 | Bardzo często (80–99%) | W 2 chorobach |
| CTSHcathepsin H | Bardzo często (80–99%) | W 1 chorobie |
| DCTN1dynactin subunit 1 | Bardzo często (80–99%) | W 3 chorobach |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Bardzo często (80–99%) | W 2 chorobach |
| HCRThypocretin neuropeptide precursor | Bardzo często (80–99%) | W 2 chorobach |
| HLA-DQB1major histocompatibility complex, class II, DQ beta 1 | Bardzo często (80–99%) | W 2 chorobach |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Bardzo często (80–99%) | W 2 chorobach |
| MECP2methyl-CpG binding protein 2 | Bardzo często (80–99%) | W 5 chorobach |
| MOGmyelin oligodendrocyte glycoprotein | Bardzo często (80–99%) | W 1 chorobie |
Pokaż jeszcze 303 genów
| Gen | Jak często występuje | Choroby |
|---|---|---|
| NAGLUN-acetyl-alpha-glucosaminidase | Bardzo często (80–99%) | W 2 chorobach |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Bardzo często (80–99%) | W 2 chorobach |
| NTNG1netrin G1 | Bardzo często (80–99%) | W 1 chorobie |
| P2RY11purinergic receptor P2Y11 | Bardzo często (80–99%) | W 1 chorobie |
| PRNPprion protein (Kanno blood group) | Bardzo często (80–99%) | W 2 chorobach |
| RAI1retinoic acid induced 1 | Bardzo często (80–99%) | W 4 chorobach |
| RNU2-2RNA, U2 small nuclear 2 | Bardzo często (80–99%) | W 1 chorobie |
| SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | Bardzo często (80–99%) | W 2 chorobach |
| SGSHN-sulfoglucosamine sulfohydrolase | Bardzo często (80–99%) | W 1 chorobie |
| SMC1Astructural maintenance of chromosomes 1A | Bardzo często (80–99%) | W 2 chorobach |
| TCF4transcription factor 4 | Bardzo często (80–99%) | W 1 chorobie |
| TNFSF4TNF superfamily member 4 | Bardzo często (80–99%) | W 1 chorobie |
| TSEN15tRNA splicing endonuclease subunit 15 | Bardzo często (80–99%) | W 1 chorobie |
| TSEN2tRNA splicing endonuclease subunit 2 | Bardzo często (80–99%) | W 1 chorobie |
| TSEN34tRNA splicing endonuclease subunit 34 | Bardzo często (80–99%) | W 1 chorobie |
| TSEN54tRNA splicing endonuclease subunit 54 | Bardzo często (80–99%) | W 1 chorobie |
| ZNF365zinc finger protein 365 | Bardzo często (80–99%) | W 2 chorobach |
| ADGRL1adhesion G protein-coupled receptor L1 | Często (30–79%) | W 1 chorobie |
| ADGRV1adhesion G protein-coupled receptor V1 | Często (30–79%) | W 1 chorobie |
| AGO1argonaute RISC component 1 | Często (30–79%) | W 1 chorobie |
| ALDH4A1aldehyde dehydrogenase 4 family member A1 | Często (30–79%) | W 1 chorobie |
| ARXaristaless related homeobox | Często (30–79%) | W 1 chorobie |
| ASH1LASH1 like histone lysine methyltransferase | Często (30–79%) | W 1 chorobie |
| ASPAaspartoacylase | Często (30–79%) | W 1 chorobie |
| ASXL1ASXL transcriptional regulator 1 | Często (30–79%) | W 1 chorobie |
| ATAD1ATPase family AAA domain containing 1 | Często (30–79%) | W 1 chorobie |
| ATRXATRX chromatin remodeler | Często (30–79%) | W 1 chorobie |
| BCL11ABCL11 transcription factor A | Często (30–79%) | W 1 chorobie |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Często (30–79%) | W 1 chorobie |
| BRD4bromodomain containing 4 | Często (30–79%) | W 1 chorobie |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Często (30–79%) | W 1 chorobie |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Często (30–79%) | W 1 chorobie |
| CASKcalcium/calmodulin dependent serine protein kinase | Często (30–79%) | W 2 chorobach |
| CD4CD4 molecule | Często (30–79%) | W 1 chorobie |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Często (30–79%) | W 1 chorobie |
| CPLX1complexin 1 | Często (30–79%) | W 1 chorobie |
| CSNK2A1casein kinase 2 alpha 1 | Często (30–79%) | W 1 chorobie |
| CTBP1C-terminal binding protein 1 | Często (30–79%) | W 1 chorobie |
| CTNNB1catenin beta 1 | Często (30–79%) | W 2 chorobach |
| DBHdopamine beta-hydroxylase | Często (30–79%) | W 1 chorobie |
| DDCdopa decarboxylase | Często (30–79%) | W 2 chorobach |
| DHCR77-dehydrocholesterol reductase | Często (30–79%) | W 1 chorobie |
| DHX30DExH-box helicase 30 | Często (30–79%) | W 1 chorobie |
| DMXL2Dmx like 2 | Często (30–79%) | W 1 chorobie |
| EHMT1euchromatic histone lysine methyltransferase 1 | Często (30–79%) | W 2 chorobach |
| FBXO11F-box protein 11 | Często (30–79%) | W 1 chorobie |
| FBXO7F-box protein 7 | Często (30–79%) | W 1 chorobie |
| FMR1fragile X messenger ribonucleoprotein 1 | Często (30–79%) | W 1 chorobie |
| FOXG1forkhead box G1 | Często (30–79%) | W 1 chorobie |
| FRA10AC1FRA10A associated CGG repeat 1 | Często (30–79%) | W 1 chorobie |
| GABBR1gamma-aminobutyric acid type B receptor subunit 1 | Często (30–79%) | W 1 chorobie |
| GCH1GTP cyclohydrolase 1 | Często (30–79%) | W 1 chorobie |
| GLRA1glycine receptor alpha 1 | Często (30–79%) | W 1 chorobie |
| GLRBglycine receptor beta | Często (30–79%) | W 1 chorobie |
| GNAO1G protein subunit alpha o1 | Często (30–79%) | W 1 chorobie |
| GPHNgephyrin | Często (30–79%) | W 1 chorobie |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Często (30–79%) | W 2 chorobach |
| GRM7glutamate metabotropic receptor 7 | Często (30–79%) | W 1 chorobie |
| HDAC4histone deacetylase 4 | Często (30–79%) | W 3 chorobach |
| HDAC8histone deacetylase 8 | Często (30–79%) | W 1 chorobie |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Często (30–79%) | W 1 chorobie |
| HIBCH3-hydroxyisobutyryl-CoA hydrolase | Często (30–79%) | W 1 chorobie |
| IDUAalpha-L-iduronidase | Często (30–79%) | W 1 chorobie |
| IFNGinterferon gamma | Często (30–79%) | W 1 chorobie |
| IMPDH2inosine monophosphate dehydrogenase 2 | Często (30–79%) | W 1 chorobie |
| IRF4interferon regulatory factor 4 | Często (30–79%) | W 1 chorobie |
| KAT5lysine acetyltransferase 5 | Często (30–79%) | W 1 chorobie |
| KAT6Alysine acetyltransferase 6A | Często (30–79%) | W 1 chorobie |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Często (30–79%) | W 1 chorobie |
| KMT2Alysine methyltransferase 2A | Często (30–79%) | W 1 chorobie |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Często (30–79%) | W 1 chorobie |
| LGI1leucine rich glioma inactivated 1 | Często (30–79%) | W 1 chorobie |
| MAGEL2MAGE family member L2 | Często (30–79%) | W 4 chorobach |
| MAU2MAU2 sister chromatid cohesion factor | Często (30–79%) | W 1 chorobie |
| MBD5methyl-CpG binding domain protein 5 | Często (30–79%) | W 1 chorobie |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Często (30–79%) | W 1 chorobie |
| MED12Lmediator complex subunit 12L | Często (30–79%) | W 1 chorobie |
| MEFVMEFV innate immunity regulator, pyrin | Często (30–79%) | W 1 chorobie |
| MKRN3makorin ring finger protein 3 | Często (30–79%) | W 1 chorobie |
| MYO7Amyosin VIIA | Często (30–79%) | W 1 chorobie |
| MYT1Lmyelin transcription factor 1 like | Często (30–79%) | W 1 chorobie |
| NACC1nucleus accumbens associated 1 | Często (30–79%) | W 2 chorobach |
| NDNnecdin, MAGE family member | Często (30–79%) | W 3 chorobach |
| NDST1N-deacetylase and N-sulfotransferase 1 | Często (30–79%) | W 1 chorobie |
| NELFAnegative elongation factor complex member A | Często (30–79%) | W 1 chorobie |
| NEUROD2neuronal differentiation 2 | Często (30–79%) | W 1 chorobie |
| NF1neurofibromin 1 | Często (30–79%) | W 1 chorobie |
| NIPBLNIPBL cohesin loading factor | Często (30–79%) | W 1 chorobie |
| NPAP1nuclear pore associated protein 1 | Często (30–79%) | W 1 chorobie |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Często (30–79%) | W 2 chorobach |
| NSD2nuclear receptor binding SET domain protein 2 | Często (30–79%) | W 1 chorobie |
| NSUN6NOP2/Sun RNA methyltransferase 6 | Często (30–79%) | W 1 chorobie |
| OCA2OCA2 melanosomal transmembrane protein | Często (30–79%) | W 3 chorobach |
| P4HTMprolyl 4-hydroxylase, transmembrane | Często (30–79%) | W 1 chorobie |
| PDZD7PDZ domain containing 7 | Często (30–79%) | W 1 chorobie |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Często (30–79%) | W 1 chorobie |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Często (30–79%) | W 1 chorobie |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Często (30–79%) | W 1 chorobie |
| PNKPpolynucleotide kinase 3'-phosphatase | Często (30–79%) | W 1 chorobie |
| POGZpogo transposable element derived with ZNF domain | Często (30–79%) | W 2 chorobach |
| POLR2ARNA polymerase II subunit A | Często (30–79%) | W 1 chorobie |
| POU3F3POU class 3 homeobox 3 | Często (30–79%) | W 1 chorobie |
| PWAR1Prader Willi/Angelman region RNA 1 | Często (30–79%) | W 1 chorobie |
| PWRN1Prader-Willi region non-protein coding RNA 1 | Często (30–79%) | W 1 chorobie |
| RAD21RAD21 cohesin complex component | Często (30–79%) | W 1 chorobie |
| RFX7regulatory factor X7 | Często (30–79%) | W 1 chorobie |
| RHOBTB2Rho related BTB domain containing 2 | Często (30–79%) | W 1 chorobie |
| RIC1RIC1 partner of RAB6A GEF complex | Często (30–79%) | W 1 chorobie |
| RNU5B-1RNA, U5B small nuclear 1 | Często (30–79%) | W 1 chorobie |
| SATB1SATB homeobox 1 | Często (30–79%) | W 2 chorobach |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Często (30–79%) | W 1 chorobie |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Często (30–79%) | W 1 chorobie |
| SETD1ASET domain containing 1A, histone lysine methyltransferase | Często (30–79%) | W 1 chorobie |
| SIK1salt inducible kinase 1 | Często (30–79%) | W 1 chorobie |
| SLC16A2solute carrier family 16 member 2 | Często (30–79%) | W 1 chorobie |
| SLC25A13solute carrier family 25 member 13 | Często (30–79%) | W 1 chorobie |
| SLC25A22solute carrier family 25 member 22 | Często (30–79%) | W 1 chorobie |
| SLC35C1solute carrier family 35 member C1 | Często (30–79%) | W 1 chorobie |
| SLC6A5solute carrier family 6 member 5 | Często (30–79%) | W 1 chorobie |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Często (30–79%) | W 1 chorobie |
| SMC3structural maintenance of chromosomes 3 | Często (30–79%) | W 1 chorobie |
| SNCAsynuclein alpha | Często (30–79%) | W 3 chorobach |
| SNORD115-1small nucleolar RNA, C/D box 115-1 | Często (30–79%) | W 1 chorobie |
| SNORD116-1small nucleolar RNA, C/D box 116-1 | Często (30–79%) | W 1 chorobie |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Często (30–79%) | W 3 chorobach |
| SPRsepiapterin reductase | Często (30–79%) | W 2 chorobach |
| SPTBN1spectrin beta, non-erythrocytic 1 | Często (30–79%) | W 1 chorobie |
| SPTSSAserine palmitoyltransferase small subunit A | Często (30–79%) | W 1 chorobie |
| STAG2STAG2 cohesin complex component | Często (30–79%) | W 1 chorobie |
| SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit | Często (30–79%) | W 2 chorobach |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Często (30–79%) | W 1 chorobie |
| SYT1synaptotagmin 1 | Często (30–79%) | W 1 chorobie |
| TANC2tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 | Często (30–79%) | W 1 chorobie |
| TBC1D20TBC1 domain family member 20 | Często (30–79%) | W 1 chorobie |
| TELO2telomere maintenance 2 | Często (30–79%) | W 1 chorobie |
| TRA2Btransformer 2 beta homolog | Często (30–79%) | W 1 chorobie |
| TRIM8tripartite motif containing 8 | Często (30–79%) | W 1 chorobie |
| TSC1TSC complex subunit 1 | Często (30–79%) | W 1 chorobie |
| TSC2TSC complex subunit 2 | Często (30–79%) | W 1 chorobie |
| TSHRthyroid stimulating hormone receptor | Często (30–79%) | W 2 chorobach |
| TTI2TELO2 interacting protein 2 | Często (30–79%) | W 2 chorobach |
| UBE3Cubiquitin protein ligase E3C | Często (30–79%) | W 1 chorobie |
| USH2Ausherin | Często (30–79%) | W 1 chorobie |
| WACWW domain containing adaptor with coiled-coil | Często (30–79%) | W 3 chorobach |
| WDR45WD repeat domain 45 | Często (30–79%) | W 1 chorobie |
| WDR73WD repeat domain 73 | Często (30–79%) | W 1 chorobie |
| WHRNwhirlin | Często (30–79%) | W 1 chorobie |
| ZEB2zinc finger E-box binding homeobox 2 | Często (30–79%) | W 2 chorobach |
| ACTA1actin alpha 1, skeletal muscle | Czasami (5–29%) | W 1 chorobie |
| ADNPactivity dependent neuroprotector homeobox | Czasami (5–29%) | W 1 chorobie |
| AGAaspartylglucosaminidase | Czasami (5–29%) | W 1 chorobie |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Czasami (5–29%) | W 1 chorobie |
| ANGangiogenin | Czasami (5–29%) | W 1 chorobie |
| ANXA11annexin A11 | Czasami (5–29%) | W 1 chorobie |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Czasami (5–29%) | W 1 chorobie |
| ARNT2aryl hydrocarbon receptor nuclear translocator 2 | Czasami (5–29%) | W 1 chorobie |
| ASXL3ASXL transcriptional regulator 3 | Czasami (5–29%) | W 1 chorobie |
| ATAD3AATPase family AAA domain containing 3A | Czasami (5–29%) | W 1 chorobie |
| ATXN10ataxin 10 | Czasami (5–29%) | W 1 chorobie |
| ATXN2ataxin 2 | Czasami (5–29%) | W 2 chorobach |
| ATXN3ataxin 3 | Czasami (5–29%) | W 4 chorobach |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Czasami (5–29%) | W 1 chorobie |
| CACHD1cache domain containing 1 | Czasami (5–29%) | W 1 chorobie |
| CAMK2Bcalcium/calmodulin dependent protein kinase II beta | Czasami (5–29%) | W 1 chorobie |
| CARS1cysteinyl-tRNA synthetase 1 | Czasami (5–29%) | W 1 chorobie |
| CCNFcyclin F | Czasami (5–29%) | W 1 chorobie |
| CFAP410cilia and flagella associated protein 410 | Czasami (5–29%) | W 1 chorobie |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Czasami (5–29%) | W 1 chorobie |
| CHKAcholine kinase alpha | Czasami (5–29%) | W 1 chorobie |
| CHMP2Bcharged multivesicular body protein 2B | Czasami (5–29%) | W 1 chorobie |
| CICcapicua transcriptional repressor | Czasami (5–29%) | W 1 chorobie |
| CISD2CDGSH iron sulfur domain 2 | Czasami (5–29%) | W 1 chorobie |
| CNBPCCHC-type zinc finger nucleic acid binding protein | Czasami (5–29%) | W 1 chorobie |
| CTCFCCCTC-binding factor | Czasami (5–29%) | W 2 chorobach |
| DAOD-amino acid oxidase | Czasami (5–29%) | W 1 chorobie |
| DMPKDM1 protein kinase | Czasami (5–29%) | W 1 chorobie |
| DNAJC13DnaJ heat shock protein family (Hsp40) member C13 | Czasami (5–29%) | W 1 chorobie |
| DPH5diphthamide biosynthesis 5 | Czasami (5–29%) | W 1 chorobie |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Czasami (5–29%) | W 1 chorobie |
| EBF3EBF transcription factor 3 | Czasami (5–29%) | W 1 chorobie |
| EIF3Feukaryotic translation initiation factor 3 subunit F | Czasami (5–29%) | W 1 chorobie |
| EIF4G1eukaryotic translation initiation factor 4 gamma 1 | Czasami (5–29%) | W 1 chorobie |
| ELNelastin | Czasami (5–29%) | W 1 chorobie |
| EPG5ectopic P-granules 5 autophagy tethering factor | Czasami (5–29%) | W 1 chorobie |
| EPM2AEPM2A glucan phosphatase, laforin | Czasami (5–29%) | W 1 chorobie |
| ERBB4erb-b2 receptor tyrosine kinase 4 | Czasami (5–29%) | W 1 chorobie |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Czasami (5–29%) | W 1 chorobie |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Czasami (5–29%) | W 1 chorobie |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Czasami (5–29%) | W 1 chorobie |
| FGFR1fibroblast growth factor receptor 1 | Czasami (5–29%) | W 1 chorobie |
| FIG4FIG4 phosphoinositide 5-phosphatase | Czasami (5–29%) | W 1 chorobie |
| FUSFUS RNA binding protein | Czasami (5–29%) | W 1 chorobie |
| GABRB3gamma-aminobutyric acid type A receptor subunit beta3 | Czasami (5–29%) | W 1 chorobie |
| GATAD2BGATA zinc finger domain containing 2B | Czasami (5–29%) | W 1 chorobie |
| GBA1glucosylceramidase beta 1 | Czasami (5–29%) | W 2 chorobach |
| GFAPglial fibrillary acidic protein | Czasami (5–29%) | W 1 chorobie |
| GIGYF2GRB10 interacting GYF protein 2 | Czasami (5–29%) | W 1 chorobie |
| GLE1GLE1 RNA export mediator | Czasami (5–29%) | W 1 chorobie |
| GLT8D1glycosyltransferase 8 domain containing 1 | Czasami (5–29%) | W 1 chorobie |
| GNAQG protein subunit alpha q | Czasami (5–29%) | W 1 chorobie |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Czasami (5–29%) | W 1 chorobie |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Czasami (5–29%) | W 1 chorobie |
| H4C5H4 clustered histone 5 | Czasami (5–29%) | W 1 chorobie |
| HACD13-hydroxyacyl-CoA dehydratase 1 | Czasami (5–29%) | W 1 chorobie |
| HESX1HESX homeobox 1 | Czasami (5–29%) | W 1 chorobie |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Czasami (5–29%) | W 1 chorobie |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Czasami (5–29%) | W 1 chorobie |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Czasami (5–29%) | W 1 chorobie |
| IL12Ainterleukin 12A | Czasami (5–29%) | W 1 chorobie |
| IL12RB1interleukin 12 receptor subunit beta 1 | Czasami (5–29%) | W 1 chorobie |
| IRF5interferon regulatory factor 5 | Czasami (5–29%) | W 1 chorobie |
| ITGA7integrin subunit alpha 7 | Czasami (5–29%) | W 1 chorobie |
| KDM6Blysine demethylase 6B | Czasami (5–29%) | W 1 chorobie |
| KICS2KICSTOR subunit 2 | Czasami (5–29%) | W 1 chorobie |
| KIF11kinesin family member 11 | Czasami (5–29%) | W 1 chorobie |
| LARP7La ribonucleoprotein 7, transcriptional regulator | Czasami (5–29%) | W 1 chorobie |
| LRP12LDL receptor related protein 12 | Czasami (5–29%) | W 1 chorobie |
| LRRC7leucine rich repeat containing 7 | Czasami (5–29%) | W 1 chorobie |
| LRRK2leucine rich repeat kinase 2 | Czasami (5–29%) | W 1 chorobie |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Czasami (5–29%) | W 1 chorobie |
| MARK2microtubule affinity regulating kinase 2 | Czasami (5–29%) | W 1 chorobie |
| MATR3matrin 3 | Czasami (5–29%) | W 1 chorobie |
| MLXIPLMLX interacting protein like | Czasami (5–29%) | W 1 chorobie |
| MMEL1membrane metalloendopeptidase like 1 | Czasami (5–29%) | W 1 chorobie |
| MYL2myosin light chain 2 | Czasami (5–29%) | W 1 chorobie |
| NDPnorrin cystine knot growth factor NDP | Czasami (5–29%) | W 1 chorobie |
| NEFHneurofilament heavy chain | Czasami (5–29%) | W 1 chorobie |
| NEK1NIMA related kinase 1 | Czasami (5–29%) | W 1 chorobie |
| NHLRC1NHL repeat containing E3 ubiquitin protein ligase 1 | Czasami (5–29%) | W 1 chorobie |
| NKX2-1NK2 homeobox 1 | Czasami (5–29%) | W 2 chorobach |
| OPTNoptineurin | Czasami (5–29%) | W 1 chorobie |
| OTX2orthodenticle homeobox 2 | Czasami (5–29%) | W 1 chorobie |
| PFN1profilin 1 | Czasami (5–29%) | W 1 chorobie |
| PHEXphosphate regulating endopeptidase X-linked | Czasami (5–29%) | W 1 chorobie |
| PHIPPHIP subunit of CUL4-Ring ligase complex | Czasami (5–29%) | W 1 chorobie |
| PHKA2phosphorylase kinase regulatory subunit alpha 2 | Czasami (5–29%) | W 1 chorobie |
| PHKG2phosphorylase kinase catalytic subunit gamma 2 | Czasami (5–29%) | W 1 chorobie |
| PIDD1p53-induced death domain protein 1 | Czasami (5–29%) | W 1 chorobie |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Czasami (5–29%) | W 1 chorobie |
| POU2AF1POU class 2 homeobox associating factor 1 | Czasami (5–29%) | W 1 chorobie |
| PROKR2prokineticin receptor 2 | Czasami (5–29%) | W 1 chorobie |
| PRPHperipherin | Czasami (5–29%) | W 1 chorobie |
| PUF60poly(U) binding splicing factor 60 | Czasami (5–29%) | W 1 chorobie |
| PYGLglycogen phosphorylase L | Czasami (5–29%) | W 1 chorobie |
| RAC1Rac family small GTPase 1 | Czasami (5–29%) | W 1 chorobie |
| RNU4-2RNA, U4 small nuclear 2 | Czasami (5–29%) | W 1 chorobie |
| RNU7-1RNA, U7 small nuclear 1 | Czasami (5–29%) | W 1 chorobie |
| RTTNrotatin | Czasami (5–29%) | W 1 chorobie |
| SARDHsarcosine dehydrogenase | Czasami (5–29%) | W 1 chorobie |
| SELENONselenoprotein N | Czasami (5–29%) | W 1 chorobie |
| SEPTIN9septin 9 | Czasami (5–29%) | W 1 chorobie |
| SETBP1SET binding protein 1 | Czasami (5–29%) | W 1 chorobie |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Czasami (5–29%) | W 1 chorobie |
| SLC2A1solute carrier family 2 member 1 | Czasami (5–29%) | W 2 chorobach |
| SLC9A6solute carrier family 9 member A6 | Czasami (5–29%) | W 2 chorobach |
| SMPD1sphingomyelin phosphodiesterase 1 | Czasami (5–29%) | W 1 chorobie |
| SOD1superoxide dismutase 1 | Czasami (5–29%) | W 1 chorobie |
| SOX2SRY-box transcription factor 2 | Czasami (5–29%) | W 1 chorobie |
| SOX3SRY-box transcription factor 3 | Czasami (5–29%) | W 1 chorobie |
| SPARTspartin | Czasami (5–29%) | W 1 chorobie |
| SPIBSpi-B transcription factor | Czasami (5–29%) | W 1 chorobie |
| SQSTM1sequestosome 1 | Czasami (5–29%) | W 1 chorobie |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Czasami (5–29%) | W 1 chorobie |
| TAF15TATA-box binding protein associated factor 15 | Czasami (5–29%) | W 1 chorobie |
| TARDBPTAR DNA binding protein | Czasami (5–29%) | W 1 chorobie |
| TBK1TANK binding kinase 1 | Czasami (5–29%) | W 1 chorobie |
| TFAP2Btranscription factor AP-2 beta | Czasami (5–29%) | W 1 chorobie |
| TNFSF15TNF superfamily member 15 | Czasami (5–29%) | W 1 chorobie |
| TNPO3transportin 3 | Czasami (5–29%) | W 1 chorobie |
| TNRC6Btrinucleotide repeat containing adaptor 6B | Czasami (5–29%) | W 1 chorobie |
| TPM2tropomyosin 2 | Czasami (5–29%) | W 1 chorobie |
| TPM3tropomyosin 3 | Czasami (5–29%) | W 1 chorobie |
| TREM2triggering receptor expressed on myeloid cells 2 | Czasami (5–29%) | W 1 chorobie |
| TRIOtrio Rho guanine nucleotide exchange factor | Czasami (5–29%) | W 1 chorobie |
| TTC5tetratricopeptide repeat domain 5 | Czasami (5–29%) | W 1 chorobie |
| UBQLN2ubiquilin 2 | Czasami (5–29%) | W 1 chorobie |
| UNC13Aunc-13 homolog A | Czasami (5–29%) | W 1 chorobie |
| USP7ubiquitin specific peptidase 7 | Czasami (5–29%) | W 1 chorobie |
| VAPBVAMP associated protein B and C | Czasami (5–29%) | W 1 chorobie |
| VCPvalosin containing protein | Czasami (5–29%) | W 1 chorobie |
| VPS35VPS35 retromer complex component | Czasami (5–29%) | W 1 chorobie |
| WFS1wolframin ER transmembrane glycoprotein | Czasami (5–29%) | W 1 chorobie |
| YY1YY1 transcription factor | Czasami (5–29%) | W 1 chorobie |
| ALMS1ALMS1 centrosome and basal body associated protein | Rzadko (1–4%) | W 1 chorobie |
| CORINcorin, serine peptidase | Rzadko (1–4%) | W 1 chorobie |
| FLT1fms related receptor tyrosine kinase 1 | Rzadko (1–4%) | W 1 chorobie |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Rzadko (1–4%) | W 1 chorobie |
| STOX1storkhead box 1 | Rzadko (1–4%) | W 1 chorobie |
| VPS13Avacuolar protein sorting 13 homolog A | Rzadko (1–4%) | W 1 chorobie |
| ADH1Calcohol dehydrogenase 1C (class I), gamma polypeptide | Nie odnotowano | W 1 chorobie |
| ATXN8OSATXN8 opposite strand lncRNA | Nie odnotowano | W 1 chorobie |
| EML1EMAP like 1 | Nie odnotowano | W 1 chorobie |
| FLCNfolliculin | Nie odnotowano | W 1 chorobie |
| HDChistidine decarboxylase | Nie odnotowano | W 1 chorobie |
| MAPTmicrotubule associated protein tau | Nie odnotowano | W 1 chorobie |
| MFSD8major facilitator superfamily domain containing 8 | Nie odnotowano | W 1 chorobie |
| MT-TTmitochondrially encoded tRNA-Thr (ACN) | Nie odnotowano | W 1 chorobie |
| PPT1palmitoyl-protein thioesterase 1 | Nie odnotowano | W 1 chorobie |
| SIN3ASIN3 transcription regulator family member A | Nie odnotowano | W 1 chorobie |
| SLITRK1SLIT and NTRK like family member 1 | Nie odnotowano | W 1 chorobie |
| SNCAIPsynuclein alpha interacting protein | Nie odnotowano | W 1 chorobie |
| TBPTATA-box binding protein | Nie odnotowano | W 1 chorobie |
| TCF20transcription factor 20 | 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 podrzędne
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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