Cecha
Attention deficit
Nazwa kliniczna: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient.
Podsumowanie
- Znana także jako
- Attention deficit disorder, Attention deficit-hyperactivity disorder, Attention deficits, Childhood attention deficit/hyperactivity disorder, ADHD
- Układ organizmu
- Abnormality of the nervous system
Read the genes linked to Attention deficit, and the rest of your genome, with one test.
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Zamawiam Genome Test446 genów powiązanych z Attention deficit
Zmiany w tych genach powodują rzadkie choroby, w których występuje Attention deficit. 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 |
|---|---|---|
| AMOTL1angiomotin like 1 | Zawsze | W 1 chorobie |
| ATP9AATPase phospholipid transporting 9A | Zawsze | W 1 chorobie |
| CACHD1cache domain containing 1 | Zawsze | W 1 chorobie |
| CDH2cadherin 2 | Zawsze | W 2 chorobach |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Zawsze | W 2 chorobach |
| CORO1Acoronin 1A | Zawsze | W 1 chorobie |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Zawsze | W 1 chorobie |
| DYNC1I2dynein cytoplasmic 1 intermediate chain 2 | Zawsze | W 1 chorobie |
| EIF2AK1eukaryotic translation initiation factor 2 alpha kinase 1 | Zawsze | W 1 chorobie |
| EIF4A2eukaryotic translation initiation factor 4A2 | Zawsze | W 1 chorobie |
| FANCLFA complementation group L | Zawsze | W 1 chorobie |
| FERRY3FERRY endosomal RAB5 effector complex subunit 3 | Zawsze | W 1 chorobie |
| FRYLFRY like transcription coactivator | Zawsze | W 1 chorobie |
| KCNA4potassium voltage-gated channel subfamily A member 4 | Zawsze | W 1 chorobie |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Zawsze | W 2 chorobach |
| KCNK3potassium two pore domain channel subfamily K member 3 | Zawsze | W 1 chorobie |
| KDM6Blysine demethylase 6B | Zawsze | W 1 chorobie |
| LRRC7leucine rich repeat containing 7 | Zawsze | W 1 chorobie |
| MARK2microtubule affinity regulating kinase 2 | Zawsze | W 1 chorobie |
| MAU2MAU2 sister chromatid cohesion factor | Zawsze | W 2 chorobach |
| MED16mediator complex subunit 16 | Zawsze | W 1 chorobie |
| MRPL39mitochondrial ribosomal protein L39 | Zawsze | W 1 chorobie |
| MYT1Lmyelin transcription factor 1 like | Zawsze | W 2 chorobach |
| NOTCH3notch receptor 3 | Zawsze | W 1 chorobie |
| NSD1nuclear receptor binding SET domain protein 1 | Zawsze | W 2 chorobach |
| PRKAR1Bprotein kinase cAMP-dependent type I regulatory subunit beta | Zawsze | W 1 chorobie |
| RNU2-2RNA, U2 small nuclear 2 | Zawsze | W 1 chorobie |
| RPL17ribosomal protein L17 | Zawsze | W 1 chorobie |
| RSRC1arginine and serine rich coiled-coil 1 | Zawsze | W 1 chorobie |
| SH3KBP1SH3 domain containing kinase binding protein 1 | Zawsze | W 1 chorobie |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Zawsze | W 1 chorobie |
| SLC25A36solute carrier family 25 member 36 | Zawsze | W 1 chorobie |
| SLC6A19solute carrier family 6 member 19 | Zawsze | W 1 chorobie |
| THRBthyroid hormone receptor beta | Zawsze | W 3 chorobach |
| TIAM1TIAM Rac1 associated GEF 1 | Zawsze | W 1 chorobie |
| TPH2tryptophan hydroxylase 2 | Zawsze | W 1 chorobie |
| TRAPPC14trafficking protein particle complex subunit 14 | Zawsze | W 1 chorobie |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Zawsze | W 1 chorobie |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Zawsze | W 1 chorobie |
| WSB2WD repeat and SOCS box containing 2 | Zawsze | W 1 chorobie |
Pokaż jeszcze 406 genów
| Gen | Jak często występuje | Choroby |
|---|---|---|
| ZMYM3zinc finger MYM-type containing 3 | Zawsze | W 1 chorobie |
| CAPRIN1cell cycle associated protein 1 | Bardzo często (80–99%) | W 1 chorobie |
| CNTNAP2contactin associated protein 2 | Bardzo często (80–99%) | W 1 chorobie |
| CPLX1complexin 1 | Bardzo często (80–99%) | W 1 chorobie |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Bardzo często (80–99%) | W 2 chorobach |
| IGF1insulin like growth factor 1 | Bardzo często (80–99%) | W 1 chorobie |
| NBNnibrin | Bardzo często (80–99%) | W 1 chorobie |
| NIPBLNIPBL cohesin loading factor | Bardzo często (80–99%) | W 2 chorobach |
| PHF21APHD finger protein 21A | Bardzo często (80–99%) | W 1 chorobie |
| POLA1DNA polymerase alpha 1, catalytic subunit | Bardzo często (80–99%) | W 2 chorobach |
| PRNPprion protein (Kanno blood group) | Bardzo często (80–99%) | W 1 chorobie |
| RAI1retinoic acid induced 1 | Bardzo często (80–99%) | W 2 chorobach |
| RIC1RIC1 partner of RAB6A GEF complex | Bardzo często (80–99%) | W 1 chorobie |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Bardzo często (80–99%) | W 3 chorobach |
| SH2B1SH2B adaptor protein 1 | Bardzo często (80–99%) | W 2 chorobach |
| TBC1D24TBC1 domain family member 24 | Bardzo często (80–99%) | W 1 chorobie |
| UBE3Aubiquitin protein ligase E3A | Bardzo często (80–99%) | W 1 chorobie |
| WACWW domain containing adaptor with coiled-coil | Bardzo często (80–99%) | W 3 chorobach |
| ADGRL1adhesion G protein-coupled receptor L1 | Często (30–79%) | W 1 chorobie |
| ADNPactivity dependent neuroprotector homeobox | Często (30–79%) | W 2 chorobach |
| AGO1argonaute RISC component 1 | Często (30–79%) | W 1 chorobie |
| AGO2argonaute RISC catalytic component 2 | Często (30–79%) | W 1 chorobie |
| AP2M1adaptor related protein complex 2 subunit mu 1 | Często (30–79%) | W 1 chorobie |
| ARID2AT-rich interaction domain 2 | Często (30–79%) | W 1 chorobie |
| ARVCFARVCF delta catenin family member | Często (30–79%) | W 1 chorobie |
| ATMATM serine/threonine kinase | Często (30–79%) | W 1 chorobie |
| ATP6V0A1ATPase H+ transporting V0 subunit a1 | Często (30–79%) | W 1 chorobie |
| ATXN7L3ataxin 7 like 3 | Często (30–79%) | W 1 chorobie |
| BAP1BRCA1 associated deubiquitinase 1 | Często (30–79%) | W 1 chorobie |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Często (30–79%) | W 1 chorobie |
| BCL11ABCL11 transcription factor A | Często (30–79%) | W 1 chorobie |
| BCORL1BCL6 corepressor like 1 | Często (30–79%) | W 1 chorobie |
| BMPR1Abone morphogenetic protein receptor type 1A | Często (30–79%) | W 1 chorobie |
| BRCA2BRCA2 DNA repair associated | Często (30–79%) | W 1 chorobie |
| BRD4bromodomain containing 4 | Często (30–79%) | W 1 chorobie |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Często (30–79%) | W 1 chorobie |
| CACNA1Hcalcium voltage-gated channel subunit alpha1 H | Często (30–79%) | W 1 chorobie |
| CAMTA1calmodulin binding transcription activator 1 | Często (30–79%) | W 1 chorobie |
| CASP2caspase 2 | Często (30–79%) | W 1 chorobie |
| CDK8cyclin dependent kinase 8 | 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 |
| CHD7chromodomain helicase DNA binding protein 7 | Często (30–79%) | W 1 chorobie |
| CHD8chromodomain helicase DNA binding protein 8 | Często (30–79%) | W 2 chorobach |
| CHEK2checkpoint kinase 2 | Często (30–79%) | W 1 chorobie |
| CLIP2CAP-Gly domain containing linker protein 2 | Często (30–79%) | W 1 chorobie |
| COMTcatechol-O-methyltransferase | Często (30–79%) | W 1 chorobie |
| CRBNcereblon | Często (30–79%) | W 1 chorobie |
| CRIPTOcripto, EGF-CFC family member | Często (30–79%) | W 4 chorobach |
| CSNK2A1casein kinase 2 alpha 1 | Często (30–79%) | W 1 chorobie |
| CTSHcathepsin H | Często (30–79%) | W 1 chorobie |
| DHCR77-dehydrocholesterol reductase | Często (30–79%) | W 1 chorobie |
| DHTKD1dehydrogenase E1 and transketolase domain containing 1 | Często (30–79%) | W 2 chorobach |
| DISP1dispatched RND transporter family member 1 | Często (30–79%) | W 4 chorobach |
| DLG3discs large MAGUK scaffold protein 3 | Często (30–79%) | W 1 chorobie |
| DLL1delta like canonical Notch ligand 1 | Często (30–79%) | W 5 chorobach |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Często (30–79%) | W 1 chorobie |
| EIF4Heukaryotic translation initiation factor 4H | Często (30–79%) | W 1 chorobie |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Często (30–79%) | W 1 chorobie |
| ELNelastin | Często (30–79%) | W 2 chorobach |
| EPCAMepithelial cell adhesion molecule | 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 |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Często (30–79%) | W 1 chorobie |
| FLGfilaggrin | Często (30–79%) | W 1 chorobie |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Często (30–79%) | W 1 chorobie |
| FMR1fragile X messenger ribonucleoprotein 1 | Często (30–79%) | W 1 chorobie |
| FOXH1forkhead box H1 | Często (30–79%) | W 4 chorobach |
| FOXP1forkhead box P1 | Często (30–79%) | W 2 chorobach |
| GABBR1gamma-aminobutyric acid type B receptor subunit 1 | Często (30–79%) | W 1 chorobie |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Często (30–79%) | W 1 chorobie |
| GABRB3gamma-aminobutyric acid type A receptor subunit beta3 | Często (30–79%) | W 2 chorobach |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Często (30–79%) | W 3 chorobach |
| GAS1growth arrest specific 1 | Często (30–79%) | W 4 chorobach |
| GATA4GATA binding protein 4 | Często (30–79%) | W 1 chorobie |
| GLI2GLI family zinc finger 2 | Często (30–79%) | W 4 chorobach |
| GLUD1glutamate dehydrogenase 1 | Często (30–79%) | W 1 chorobie |
| GNAQG protein subunit alpha q | Często (30–79%) | W 1 chorobie |
| GNB5G protein subunit beta 5 | Często (30–79%) | W 1 chorobie |
| GP1BBglycoprotein Ib platelet subunit beta | Często (30–79%) | W 1 chorobie |
| GRIA1glutamate ionotropic receptor AMPA type subunit 1 | Często (30–79%) | W 1 chorobie |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Często (30–79%) | W 3 chorobach |
| GTF2Igeneral transcription factor IIi | Często (30–79%) | W 1 chorobie |
| GTF2IRD1GTF2I repeat domain containing 1 | Często (30–79%) | W 1 chorobie |
| GTF2IRD2GTF2I repeat domain containing 2 | Często (30–79%) | W 1 chorobie |
| HCRThypocretin neuropeptide precursor | Często (30–79%) | W 1 chorobie |
| 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 |
| HIRAhistone cell cycle regulator | Często (30–79%) | W 1 chorobie |
| HLA-DQB1major histocompatibility complex, class II, DQ beta 1 | Często (30–79%) | W 1 chorobie |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Często (30–79%) | W 1 chorobie |
| HNRNPH2heterogeneous nuclear ribonucleoprotein H2 | Często (30–79%) | W 1 chorobie |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Często (30–79%) | W 1 chorobie |
| HNRNPRheterogeneous nuclear ribonucleoprotein R | Często (30–79%) | W 1 chorobie |
| IQSEC1IQ motif and Sec7 domain ArfGEF 1 | Często (30–79%) | W 1 chorobie |
| JMJD1Cjumonji domain containing 1C | Często (30–79%) | W 1 chorobie |
| JRKJrk helix-turn-helix protein | Często (30–79%) | W 1 chorobie |
| KAT5lysine acetyltransferase 5 | Często (30–79%) | W 1 chorobie |
| KCNN2potassium calcium-activated channel subfamily N member 2 | Często (30–79%) | W 1 chorobie |
| KDM4Blysine demethylase 4B | Często (30–79%) | W 1 chorobie |
| KICS2KICSTOR subunit 2 | Często (30–79%) | W 1 chorobie |
| KPNA3karyopherin subunit alpha 3 | Często (30–79%) | W 1 chorobie |
| KRASKRas proto-oncogene, GTPase | Często (30–79%) | W 1 chorobie |
| LIMK1LIM domain kinase 1 | Często (30–79%) | W 1 chorobie |
| MADDMAP kinase activating death domain | Często (30–79%) | W 1 chorobie |
| MAGEL2MAGE family member L2 | Często (30–79%) | W 1 chorobie |
| MAP1Bmicrotubule associated protein 1B | Często (30–79%) | W 1 chorobie |
| MAPK1mitogen-activated protein kinase 1 | Często (30–79%) | W 2 chorobach |
| MCTP2multiple C2 and transmembrane domain containing 2 | Często (30–79%) | W 1 chorobie |
| MED12mediator complex subunit 12 | Często (30–79%) | W 3 chorobach |
| MED12Lmediator complex subunit 12L | Często (30–79%) | W 1 chorobie |
| METTL27methyltransferase like 27 | Często (30–79%) | W 1 chorobie |
| MKRN3makorin ring finger protein 3 | Często (30–79%) | W 1 chorobie |
| MLH1mutL homolog 1 | Często (30–79%) | W 1 chorobie |
| MLXIPLMLX interacting protein like | Często (30–79%) | W 1 chorobie |
| MOGmyelin oligodendrocyte glycoprotein | Często (30–79%) | W 1 chorobie |
| MSH2mutS homolog 2 | Często (30–79%) | W 1 chorobie |
| MSH6mutS homolog 6 | Często (30–79%) | W 1 chorobie |
| MUTYHmutY DNA glycosylase | Często (30–79%) | W 1 chorobie |
| NAV3neuron navigator 3 | Często (30–79%) | W 1 chorobie |
| NCF1neutrophil cytosolic factor 1 | Często (30–79%) | W 1 chorobie |
| NEXMIFneurite extension and migration factor | Często (30–79%) | W 1 chorobie |
| NF1neurofibromin 1 | Często (30–79%) | W 1 chorobie |
| NFIAnuclear factor I A | Często (30–79%) | W 1 chorobie |
| NFIBnuclear factor I B | Często (30–79%) | W 1 chorobie |
| NIPA1NIPA magnesium transporter 1 | Często (30–79%) | W 1 chorobie |
| NIPA2NIPA magnesium transporter 2 | Często (30–79%) | W 1 chorobie |
| NODALnodal growth differentiation factor | Często (30–79%) | W 4 chorobach |
| NPAP1nuclear pore associated protein 1 | Często (30–79%) | W 1 chorobie |
| NPATnuclear protein, coactivator of histone transcription | Często (30–79%) | W 1 chorobie |
| NSUN6NOP2/Sun RNA methyltransferase 6 | Często (30–79%) | W 1 chorobie |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Często (30–79%) | W 1 chorobie |
| ODC1ornithine decarboxylase 1 | Często (30–79%) | W 2 chorobach |
| P2RY11purinergic receptor P2Y11 | Często (30–79%) | W 1 chorobie |
| PANK2pantothenate kinase 2 | Często (30–79%) | W 1 chorobie |
| PCDH19protocadherin 19 | Często (30–79%) | W 1 chorobie |
| PDZD8PDZ domain containing 8 | Często (30–79%) | W 1 chorobie |
| PHIPPHIP subunit of CUL4-Ring ligase complex | Często (30–79%) | W 2 chorobach |
| PIDD1p53-induced death domain protein 1 | Często (30–79%) | W 1 chorobie |
| PIEZO2piezo type mechanosensitive ion channel component 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 |
| 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 |
| POGZpogo transposable element derived with ZNF domain | 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 |
| PPFIA3PPFI scaffold protein A3 | Często (30–79%) | W 1 chorobie |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Często (30–79%) | W 1 chorobie |
| PRKD1protein kinase D1 | Często (30–79%) | W 1 chorobie |
| PRR12proline rich 12 | Często (30–79%) | W 1 chorobie |
| PSMB1proteasome 20S subunit beta 1 | Często (30–79%) | W 1 chorobie |
| PTCH1patched 1 | Często (30–79%) | W 4 chorobach |
| PUS7pseudouridine synthase 7 | 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 |
| RELREL proto-oncogene, NF-kB subunit | Często (30–79%) | W 1 chorobie |
| RFC2replication factor C subunit 2 | Często (30–79%) | W 1 chorobie |
| RFX7regulatory factor X7 | Często (30–79%) | W 1 chorobie |
| RPS20ribosomal protein S20 | Często (30–79%) | W 1 chorobie |
| RREB1ras responsive element binding protein 1 | Często (30–79%) | W 1 chorobie |
| SATB2SATB homeobox 2 | Często (30–79%) | W 2 chorobach |
| SCAPERS-phase cyclin A associated protein in the ER | Często (30–79%) | W 1 chorobie |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Często (30–79%) | W 2 chorobach |
| SEC24CSEC24 homolog C, COPII component | Często (30–79%) | W 1 chorobie |
| SEMA3Esemaphorin 3E | Często (30–79%) | W 1 chorobie |
| SEMA4Asemaphorin 4A | Często (30–79%) | W 1 chorobie |
| SHHsonic hedgehog signaling molecule | Często (30–79%) | W 4 chorobach |
| SHMT2serine hydroxymethyltransferase 2 | Często (30–79%) | W 1 chorobie |
| SIM1SIM bHLH transcription factor 1 | Często (30–79%) | W 1 chorobie |
| SIX3SIX homeobox 3 | Często (30–79%) | W 4 chorobach |
| SLC2A1solute carrier family 2 member 1 | Często (30–79%) | W 1 chorobie |
| SLC6A1solute carrier family 6 member 1 | Często (30–79%) | W 3 chorobach |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Często (30–79%) | W 2 chorobach |
| SMC1Astructural maintenance of chromosomes 1A | Często (30–79%) | W 2 chorobach |
| SMC3structural maintenance of chromosomes 3 | Często (30–79%) | W 1 chorobie |
| 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 |
| SOX6SRY-box transcription factor 6 | Często (30–79%) | W 1 chorobie |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Często (30–79%) | W 1 chorobie |
| SPTBN1spectrin beta, non-erythrocytic 1 | Często (30–79%) | W 1 chorobie |
| STAG2STAG2 cohesin complex component | Często (30–79%) | W 3 chorobach |
| STILSTIL centriolar assembly protein | Często (30–79%) | W 4 chorobach |
| STSsteroid sulfatase | Często (30–79%) | W 2 chorobach |
| STX1Asyntaxin 1A | Często (30–79%) | W 1 chorobie |
| SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit | Często (30–79%) | W 1 chorobie |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Często (30–79%) | W 2 chorobach |
| TBCBtubulin folding cofactor B | Często (30–79%) | W 1 chorobie |
| TBL2transducin beta like 2 | Często (30–79%) | W 1 chorobie |
| TBX1T-box transcription factor 1 | Często (30–79%) | W 3 chorobach |
| TET3tet methylcytosine dioxygenase 3 | 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 |
| TKTtransketolase | Często (30–79%) | W 2 chorobach |
| TMEM270transmembrane protein 270 | Często (30–79%) | W 1 chorobie |
| TNFSF4TNF superfamily member 4 | Często (30–79%) | W 1 chorobie |
| TNRC6Btrinucleotide repeat containing adaptor 6B | Często (30–79%) | W 1 chorobie |
| TRIOtrio Rho guanine nucleotide exchange factor | Często (30–79%) | W 3 chorobach |
| TUBA1Atubulin alpha 1a | Często (30–79%) | W 1 chorobie |
| TUBB2Btubulin beta 2B class IIb | Często (30–79%) | W 2 chorobach |
| TUBB3tubulin beta 3 class III | Często (30–79%) | W 1 chorobie |
| TUBG1tubulin gamma 1 | Często (30–79%) | W 1 chorobie |
| UBAP2Lubiquitin associated protein 2 like | Często (30–79%) | W 1 chorobie |
| UBE4Aubiquitination factor E4A | Często (30–79%) | W 1 chorobie |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Często (30–79%) | W 1 chorobie |
| UPF3BUPF3B regulator of nonsense mediated mRNA decay | Często (30–79%) | W 1 chorobie |
| USP7ubiquitin specific peptidase 7 | Często (30–79%) | W 1 chorobie |
| VPS37DVPS37D subunit of ESCRT-I | Często (30–79%) | W 1 chorobie |
| XPO1exportin 1 | Często (30–79%) | W 1 chorobie |
| ZDHHC9zDHHC palmitoyltransferase 9 | Często (30–79%) | W 1 chorobie |
| ZFXzinc finger protein X-linked | Często (30–79%) | W 1 chorobie |
| ZIC2Zic family zinc finger 2 | Często (30–79%) | W 4 chorobach |
| ZNF292zinc finger protein 292 | Często (30–79%) | W 1 chorobie |
| ZNF365zinc finger protein 365 | Często (30–79%) | W 1 chorobie |
| AARS1alanyl-tRNA synthetase 1 | Czasami (5–29%) | W 1 chorobie |
| ACTL6Bactin like 6B | Czasami (5–29%) | W 1 chorobie |
| ADH5alcohol dehydrogenase 5 (class III), chi polypeptide | Czasami (5–29%) | W 1 chorobie |
| ALKBH8alkB homolog 8, tRNA methyltransferase | Czasami (5–29%) | W 1 chorobie |
| ANAPC1anaphase promoting complex subunit 1 | Czasami (5–29%) | W 1 chorobie |
| ANKRD11ankyrin repeat domain 11 | Czasami (5–29%) | W 1 chorobie |
| ANKRD17ankyrin repeat domain 17 | Czasami (5–29%) | W 1 chorobie |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Czasami (5–29%) | W 1 chorobie |
| ARPC4actin related protein 2/3 complex subunit 4 | Czasami (5–29%) | W 1 chorobie |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Czasami (5–29%) | W 1 chorobie |
| ASLargininosuccinate lyase | Czasami (5–29%) | W 1 chorobie |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Czasami (5–29%) | W 2 chorobach |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Czasami (5–29%) | W 1 chorobie |
| ATP6V1AATPase H+ transporting V1 subunit A | Czasami (5–29%) | W 1 chorobie |
| AUTS2activator of transcription and developmental regulator AUTS2 | Czasami (5–29%) | W 1 chorobie |
| BCKDKbranched chain keto acid dehydrogenase kinase | Czasami (5–29%) | W 1 chorobie |
| BCRBCR activator of RhoGEF and GTPase | Czasami (5–29%) | W 1 chorobie |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Czasami (5–29%) | W 1 chorobie |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Czasami (5–29%) | W 1 chorobie |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Czasami (5–29%) | W 1 chorobie |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Czasami (5–29%) | W 1 chorobie |
| CARS1cysteinyl-tRNA synthetase 1 | Czasami (5–29%) | W 1 chorobie |
| CDC42BPBCDC42 binding protein kinase beta | Czasami (5–29%) | W 1 chorobie |
| CDH11cadherin 11 | Czasami (5–29%) | W 1 chorobie |
| CDK19cyclin dependent kinase 19 | Czasami (5–29%) | W 1 chorobie |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Czasami (5–29%) | W 1 chorobie |
| CELF2CUGBP Elav-like family member 2 | Czasami (5–29%) | W 1 chorobie |
| CHD3chromodomain helicase DNA binding protein 3 | Czasami (5–29%) | W 1 chorobie |
| CHD5chromodomain helicase DNA binding protein 5 | Czasami (5–29%) | W 1 chorobie |
| CHRNA7cholinergic receptor nicotinic alpha 7 subunit | Czasami (5–29%) | W 1 chorobie |
| CICcapicua transcriptional repressor | Czasami (5–29%) | W 1 chorobie |
| CLTCclathrin heavy chain | Czasami (5–29%) | W 2 chorobach |
| CRKLCRK like proto-oncogene, adaptor protein | Czasami (5–29%) | W 1 chorobie |
| CTCFCCCTC-binding factor | Czasami (5–29%) | W 1 chorobie |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Czasami (5–29%) | W 1 chorobie |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Czasami (5–29%) | W 1 chorobie |
| DALRD3DALR anticodon binding domain containing 3 | Czasami (5–29%) | W 1 chorobie |
| DCDC2doublecortin domain containing 2 | Czasami (5–29%) | W 1 chorobie |
| DDB1damage specific DNA binding protein 1 | Czasami (5–29%) | W 1 chorobie |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Czasami (5–29%) | W 2 chorobach |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Czasami (5–29%) | W 1 chorobie |
| DNAJC12DnaJ heat shock protein family (Hsp40) member C12 | Czasami (5–29%) | W 1 chorobie |
| DNM1dynamin 1 | Czasami (5–29%) | W 1 chorobie |
| DPH1diphthamide biosynthesis 1 | Czasami (5–29%) | W 1 chorobie |
| DPH2diphthamide biosynthesis 2 | Czasami (5–29%) | W 1 chorobie |
| DPYSdihydropyrimidinase | Czasami (5–29%) | W 1 chorobie |
| DTNAdystrobrevin alpha | 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 |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Czasami (5–29%) | W 1 chorobie |
| EHMT1euchromatic histone lysine methyltransferase 1 | Czasami (5–29%) | W 1 chorobie |
| FANCD2FA complementation group D2 | Czasami (5–29%) | W 1 chorobie |
| FBXO28F-box protein 28 | Czasami (5–29%) | W 1 chorobie |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Czasami (5–29%) | W 2 chorobach |
| FGF12fibroblast growth factor 12 | Czasami (5–29%) | W 1 chorobie |
| FGFR3fibroblast growth factor receptor 3 | Czasami (5–29%) | W 1 chorobie |
| FOXG1forkhead box G1 | Czasami (5–29%) | W 1 chorobie |
| FZR1fizzy and cell division cycle 20 related 1 | Czasami (5–29%) | W 1 chorobie |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Czasami (5–29%) | W 1 chorobie |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Czasami (5–29%) | W 1 chorobie |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Czasami (5–29%) | W 1 chorobie |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Czasami (5–29%) | W 1 chorobie |
| GALCgalactosylceramidase | Czasami (5–29%) | W 1 chorobie |
| GALTgalactose-1-phosphate uridylyltransferase | Czasami (5–29%) | W 1 chorobie |
| GBA1glucosylceramidase beta 1 | Czasami (5–29%) | W 1 chorobie |
| GNB1G protein subunit beta 1 | Czasami (5–29%) | W 1 chorobie |
| GRIK2glutamate ionotropic receptor kainate type subunit 2 | Czasami (5–29%) | W 1 chorobie |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Czasami (5–29%) | W 1 chorobie |
| GTF3C3general transcription factor IIIC subunit 3 | Czasami (5–29%) | W 1 chorobie |
| H4C5H4 clustered histone 5 | Czasami (5–29%) | W 1 chorobie |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Czasami (5–29%) | W 2 chorobach |
| HDAC4histone deacetylase 4 | Czasami (5–29%) | W 1 chorobie |
| HMGA2high mobility group AT-hook 2 | Czasami (5–29%) | W 1 chorobie |
| HOXA2homeobox A2 | Czasami (5–29%) | W 1 chorobie |
| HPD4-hydroxyphenylpyruvate dioxygenase | Czasami (5–29%) | W 1 chorobie |
| HSPG2heparan sulfate proteoglycan 2 | Czasami (5–29%) | W 1 chorobie |
| IFNGinterferon gamma | Czasami (5–29%) | W 2 chorobach |
| IGF2insulin like growth factor 2 | Czasami (5–29%) | W 1 chorobie |
| IVDisovaleryl-CoA dehydrogenase | Czasami (5–29%) | W 1 chorobie |
| JARID2jumonji and AT-rich interaction domain containing 2 | Czasami (5–29%) | W 1 chorobie |
| KAT8lysine acetyltransferase 8 | Czasami (5–29%) | W 1 chorobie |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Czasami (5–29%) | W 1 chorobie |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Czasami (5–29%) | W 1 chorobie |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Czasami (5–29%) | W 1 chorobie |
| KDM2Blysine demethylase 2B | Czasami (5–29%) | W 1 chorobie |
| KDM3Blysine demethylase 3B | Czasami (5–29%) | W 1 chorobie |
| KIF14kinesin family member 14 | Czasami (5–29%) | W 1 chorobie |
| KMT2Blysine methyltransferase 2B | Czasami (5–29%) | W 2 chorobach |
| KMT5Blysine methyltransferase 5B | Czasami (5–29%) | W 1 chorobie |
| LAMP2lysosome associated membrane protein 2 | Czasami (5–29%) | W 1 chorobie |
| LGI3leucine rich repeat LGI family member 3 | Czasami (5–29%) | W 1 chorobie |
| LHCGRluteinizing hormone/choriogonadotropin receptor | Czasami (5–29%) | W 1 chorobie |
| LMAN2Llectin, mannose binding 2 like | Czasami (5–29%) | W 1 chorobie |
| MAB21L1mab-21 like 1 | Czasami (5–29%) | W 1 chorobie |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Czasami (5–29%) | W 1 chorobie |
| MED13mediator complex subunit 13 | Czasami (5–29%) | W 1 chorobie |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Czasami (5–29%) | W 1 chorobie |
| NBEAneurobeachin | Czasami (5–29%) | W 1 chorobie |
| NDPnorrin cystine knot growth factor NDP | Czasami (5–29%) | W 1 chorobie |
| NECAP1NECAP endocytosis associated 1 | Czasami (5–29%) | W 1 chorobie |
| NR2F1nuclear receptor subfamily 2 group F member 1 | Czasami (5–29%) | W 1 chorobie |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Czasami (5–29%) | W 1 chorobie |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Czasami (5–29%) | W 1 chorobie |
| OPHN1oligophrenin 1 | Czasami (5–29%) | W 1 chorobie |
| OTCornithine transcarbamylase | Czasami (5–29%) | W 1 chorobie |
| PACS2phosphofurin acidic cluster sorting protein 2 | Czasami (5–29%) | W 1 chorobie |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Czasami (5–29%) | W 1 chorobie |
| PCGF2polycomb group ring finger 2 | Czasami (5–29%) | W 1 chorobie |
| PCNTpericentrin | Czasami (5–29%) | W 1 chorobie |
| PDGFRBplatelet derived growth factor receptor beta | Czasami (5–29%) | W 1 chorobie |
| PLAG1PLAG1 zinc finger | Czasami (5–29%) | W 1 chorobie |
| PPM1Dprotein phosphatase, Mg2+/Mn2+ dependent 1D | Czasami (5–29%) | W 1 chorobie |
| PPP1R12Aprotein phosphatase 1 regulatory subunit 12A | Czasami (5–29%) | W 1 chorobie |
| PPP2CAprotein phosphatase 2 catalytic subunit alpha | Czasami (5–29%) | W 1 chorobie |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Czasami (5–29%) | W 1 chorobie |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Czasami (5–29%) | W 1 chorobie |
| REREarginine-glutamic acid dipeptide repeats | Czasami (5–29%) | W 2 chorobach |
| RPS6KC1ribosomal protein S6 kinase C1 | Czasami (5–29%) | W 1 chorobie |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Czasami (5–29%) | W 2 chorobach |
| SETBP1SET binding protein 1 | Czasami (5–29%) | W 1 chorobie |
| SGSM3small G protein signaling modulator 3 | Czasami (5–29%) | W 1 chorobie |
| SLC13A5solute carrier family 13 member 5 | Czasami (5–29%) | W 1 chorobie |
| SLC1A2solute carrier family 1 member 2 | Czasami (5–29%) | W 1 chorobie |
| SLC38A3solute carrier family 38 member 3 | Czasami (5–29%) | W 1 chorobie |
| SLC6A11solute carrier family 6 member 11 | Czasami (5–29%) | W 1 chorobie |
| SLC7A6OSsolute carrier family 7 member 6 opposite strand | Czasami (5–29%) | W 1 chorobie |
| SLC9A7solute carrier family 9 member A7 | Czasami (5–29%) | W 1 chorobie |
| SLF2SMC5/6 complex localization factor 2 | Czasami (5–29%) | W 1 chorobie |
| SMC5structural maintenance of chromosomes 5 | Czasami (5–29%) | W 1 chorobie |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Czasami (5–29%) | W 1 chorobie |
| SOX5SRY-box transcription factor 5 | Czasami (5–29%) | W 1 chorobie |
| SPENspen family transcriptional repressor | Czasami (5–29%) | W 1 chorobie |
| SPRED1sprouty related EVH1 domain containing 1 | Czasami (5–29%) | W 2 chorobach |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Czasami (5–29%) | W 1 chorobie |
| SRCAPSnf2 related CREBBP activator protein | Czasami (5–29%) | W 1 chorobie |
| SRPX2sushi repeat containing protein X-linked 2 | Czasami (5–29%) | W 1 chorobie |
| SRRM2serine/arginine repetitive matrix 2 | Czasami (5–29%) | W 1 chorobie |
| STEEP1STING1 ER exit protein 1 | Czasami (5–29%) | W 1 chorobie |
| SYNJ1synaptojanin 1 | Czasami (5–29%) | W 1 chorobie |
| SZT2SZT2 subunit of KICSTOR complex | Czasami (5–29%) | W 1 chorobie |
| TAF1TATA-box binding protein associated factor 1 | Czasami (5–29%) | W 1 chorobie |
| TANC2tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 | Czasami (5–29%) | W 1 chorobie |
| TAOK1TAO kinase 1 | Czasami (5–29%) | W 1 chorobie |
| TBC1D23TBC1 domain family member 23 | Czasami (5–29%) | W 1 chorobie |
| TBX2T-box transcription factor 2 | Czasami (5–29%) | W 1 chorobie |
| TMCO1transmembrane and coiled-coil domains 1 | Czasami (5–29%) | W 1 chorobie |
| TMEM67transmembrane protein 67 | Czasami (5–29%) | W 1 chorobie |
| TNIKTRAF2 and NCK interacting kinase | Czasami (5–29%) | W 1 chorobie |
| TRAK1trafficking kinesin protein 1 | Czasami (5–29%) | W 1 chorobie |
| TSC1TSC complex subunit 1 | Czasami (5–29%) | W 2 chorobach |
| TSC2TSC complex subunit 2 | Czasami (5–29%) | W 2 chorobach |
| TSHBthyroid stimulating hormone subunit beta | Czasami (5–29%) | W 1 chorobie |
| UBA5ubiquitin like modifier activating enzyme 5 | Czasami (5–29%) | W 1 chorobie |
| UFSP2UFM1 specific peptidase 2 | Czasami (5–29%) | W 1 chorobie |
| WBP11WW domain binding protein 11 | Czasami (5–29%) | W 1 chorobie |
| WDR83OSWD repeat domain 83 opposite strand | Czasami (5–29%) | W 1 chorobie |
| YME1L1YME1 like 1 ATPase | Czasami (5–29%) | W 1 chorobie |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Czasami (5–29%) | W 2 chorobach |
| YY1YY1 transcription factor | Czasami (5–29%) | W 2 chorobach |
| ZMYM2zinc finger MYM-type containing 2 | Czasami (5–29%) | W 1 chorobie |
| APC2APC regulator of Wnt signaling pathway 2 | Rzadko (1–4%) | W 1 chorobie |
| CABP4calcium binding protein 4 | Rzadko (1–4%) | W 1 chorobie |
| CHRNA2cholinergic receptor nicotinic alpha 2 subunit | Rzadko (1–4%) | W 1 chorobie |
| CHRNA4cholinergic receptor nicotinic alpha 4 subunit | Rzadko (1–4%) | W 1 chorobie |
| CHRNB2cholinergic receptor nicotinic beta 2 subunit | Rzadko (1–4%) | W 1 chorobie |
| CRHcorticotropin releasing hormone | Rzadko (1–4%) | W 1 chorobie |
| HEPACAMhepatic and glial cell adhesion molecule | Rzadko (1–4%) | W 1 chorobie |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Rzadko (1–4%) | W 1 chorobie |
| NAA15N-alpha-acetyltransferase 15, NatA auxiliary subunit | Rzadko (1–4%) | W 1 chorobie |
| NOP56NOP56 ribonucleoprotein | Rzadko (1–4%) | W 1 chorobie |
| PTENphosphatase and tensin homolog | Rzadko (1–4%) | W 1 chorobie |
| SMPD1sphingomyelin phosphodiesterase 1 | Rzadko (1–4%) | W 1 chorobie |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Rzadko (1–4%) | W 1 chorobie |
| ABCD1ATP binding cassette subfamily D member 1 | Nie odnotowano | W 1 chorobie |
| ASPMassembly factor for spindle microtubules | Nie odnotowano | W 1 chorobie |
| DRD4dopamine receptor D4 | Nie odnotowano | W 1 chorobie |
| DRD5dopamine receptor D5 | Nie odnotowano | W 1 chorobie |
| HDChistidine decarboxylase | Nie odnotowano | W 1 chorobie |
| KIF11kinesin family member 11 | Nie odnotowano | W 1 chorobie |
| NKAPNFKB activating protein | Nie odnotowano | W 1 chorobie |
| NLGN1neuroligin 1 | Nie odnotowano | W 1 chorobie |
| PAHphenylalanine hydroxylase | Nie odnotowano | W 1 chorobie |
| PRKCGprotein kinase C gamma | Nie odnotowano | W 1 chorobie |
| PTCHD1patched domain containing 1 | Nie odnotowano | W 1 chorobie |
| SIN3ASIN3 transcription regulator family member A | Nie odnotowano | W 1 chorobie |
| SLC6A8solute carrier family 6 member 8 | Nie odnotowano | W 1 chorobie |
| SLITRK1SLIT and NTRK like family member 1 | Nie odnotowano | W 1 chorobie |
| TBL1Xtransducin beta like 1 X-linked | Nie odnotowano | W 1 chorobie |
| TLK2tousled like kinase 2 | Nie odnotowano | W 1 chorobie |
| TNPO2transportin 2 | Nie odnotowano | W 1 chorobie |
| ZMIZ1zinc finger MIZ-type containing 1 | 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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