Özellik
Attention deficit
Klinik adı: 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.
Özet
- Diğer adları
- Attention deficit disorder, Attention deficit-hyperactivity disorder, Attention deficits, Childhood attention deficit/hyperactivity disorder, ADHD
- Vücut sistemi
- Abnormality of the nervous system
Referans genomGRCh38hg38
Gen ve varyant sayfalarındaki konumlar, bu tarayıcıda yaptığınız bu seçimi izler.
Read the genes linked to Attention deficit, and the rest of your genome, with one test.
$449'den başlayanÜcretsiz kargo · Sonuçlar 6–8 hafta içinde
Genome Test'imi alAttention deficit ile ilişkili 446 gen
Bu genlerdeki değişiklikler, Attention deficit özelliğinin görüldüğü nadir durumlara yol açar. Bu özelliğe sahip çoğu kişide bu durumlardan hiçbiri yoktur; ayrıca bu listedeki bir gen, kimsenin kendi genomu hakkında bir şey söylemez.
| Gen | Ne sıklıkla görüldüğü | Durumlar |
|---|---|---|
| AMOTL1angiomotin like 1 | Her zaman | 1 durumda |
| ATP9AATPase phospholipid transporting 9A | Her zaman | 1 durumda |
| CACHD1cache domain containing 1 | Her zaman | 1 durumda |
| CDH2cadherin 2 | Her zaman | 2 durumda |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Her zaman | 2 durumda |
| CORO1Acoronin 1A | Her zaman | 1 durumda |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Her zaman | 1 durumda |
| DYNC1I2dynein cytoplasmic 1 intermediate chain 2 | Her zaman | 1 durumda |
| EIF2AK1eukaryotic translation initiation factor 2 alpha kinase 1 | Her zaman | 1 durumda |
| EIF4A2eukaryotic translation initiation factor 4A2 | Her zaman | 1 durumda |
| FANCLFA complementation group L | Her zaman | 1 durumda |
| FERRY3FERRY endosomal RAB5 effector complex subunit 3 | Her zaman | 1 durumda |
| FRYLFRY like transcription coactivator | Her zaman | 1 durumda |
| KCNA4potassium voltage-gated channel subfamily A member 4 | Her zaman | 1 durumda |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Her zaman | 2 durumda |
| KCNK3potassium two pore domain channel subfamily K member 3 | Her zaman | 1 durumda |
| KDM6Blysine demethylase 6B | Her zaman | 1 durumda |
| LRRC7leucine rich repeat containing 7 | Her zaman | 1 durumda |
| MARK2microtubule affinity regulating kinase 2 | Her zaman | 1 durumda |
| MAU2MAU2 sister chromatid cohesion factor | Her zaman | 2 durumda |
| MED16mediator complex subunit 16 | Her zaman | 1 durumda |
| MRPL39mitochondrial ribosomal protein L39 | Her zaman | 1 durumda |
| MYT1Lmyelin transcription factor 1 like | Her zaman | 2 durumda |
| NOTCH3notch receptor 3 | Her zaman | 1 durumda |
| NSD1nuclear receptor binding SET domain protein 1 | Her zaman | 2 durumda |
| PRKAR1Bprotein kinase cAMP-dependent type I regulatory subunit beta | Her zaman | 1 durumda |
| RNU2-2RNA, U2 small nuclear 2 | Her zaman | 1 durumda |
| RPL17ribosomal protein L17 | Her zaman | 1 durumda |
| RSRC1arginine and serine rich coiled-coil 1 | Her zaman | 1 durumda |
| SH3KBP1SH3 domain containing kinase binding protein 1 | Her zaman | 1 durumda |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Her zaman | 1 durumda |
| SLC25A36solute carrier family 25 member 36 | Her zaman | 1 durumda |
| SLC6A19solute carrier family 6 member 19 | Her zaman | 1 durumda |
| THRBthyroid hormone receptor beta | Her zaman | 3 durumda |
| TIAM1TIAM Rac1 associated GEF 1 | Her zaman | 1 durumda |
| TPH2tryptophan hydroxylase 2 | Her zaman | 1 durumda |
| TRAPPC14trafficking protein particle complex subunit 14 | Her zaman | 1 durumda |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Her zaman | 1 durumda |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Her zaman | 1 durumda |
| WSB2WD repeat and SOCS box containing 2 | Her zaman | 1 durumda |
406 gen daha göster
| Gen | Ne sıklıkla görüldüğü | Durumlar |
|---|---|---|
| ZMYM3zinc finger MYM-type containing 3 | Her zaman | 1 durumda |
| CAPRIN1cell cycle associated protein 1 | Çok sık (%80–99) | 1 durumda |
| CNTNAP2contactin associated protein 2 | Çok sık (%80–99) | 1 durumda |
| CPLX1complexin 1 | Çok sık (%80–99) | 1 durumda |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Çok sık (%80–99) | 2 durumda |
| IGF1insulin like growth factor 1 | Çok sık (%80–99) | 1 durumda |
| NBNnibrin | Çok sık (%80–99) | 1 durumda |
| NIPBLNIPBL cohesin loading factor | Çok sık (%80–99) | 2 durumda |
| PHF21APHD finger protein 21A | Çok sık (%80–99) | 1 durumda |
| POLA1DNA polymerase alpha 1, catalytic subunit | Çok sık (%80–99) | 2 durumda |
| PRNPprion protein (Kanno blood group) | Çok sık (%80–99) | 1 durumda |
| RAI1retinoic acid induced 1 | Çok sık (%80–99) | 2 durumda |
| RIC1RIC1 partner of RAB6A GEF complex | Çok sık (%80–99) | 1 durumda |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Çok sık (%80–99) | 3 durumda |
| SH2B1SH2B adaptor protein 1 | Çok sık (%80–99) | 2 durumda |
| TBC1D24TBC1 domain family member 24 | Çok sık (%80–99) | 1 durumda |
| UBE3Aubiquitin protein ligase E3A | Çok sık (%80–99) | 1 durumda |
| WACWW domain containing adaptor with coiled-coil | Çok sık (%80–99) | 3 durumda |
| ADGRL1adhesion G protein-coupled receptor L1 | Sık (%30–79) | 1 durumda |
| ADNPactivity dependent neuroprotector homeobox | Sık (%30–79) | 2 durumda |
| AGO1argonaute RISC component 1 | Sık (%30–79) | 1 durumda |
| AGO2argonaute RISC catalytic component 2 | Sık (%30–79) | 1 durumda |
| AP2M1adaptor related protein complex 2 subunit mu 1 | Sık (%30–79) | 1 durumda |
| ARID2AT-rich interaction domain 2 | Sık (%30–79) | 1 durumda |
| ARVCFARVCF delta catenin family member | Sık (%30–79) | 1 durumda |
| ATMATM serine/threonine kinase | Sık (%30–79) | 1 durumda |
| ATP6V0A1ATPase H+ transporting V0 subunit a1 | Sık (%30–79) | 1 durumda |
| ATXN7L3ataxin 7 like 3 | Sık (%30–79) | 1 durumda |
| BAP1BRCA1 associated deubiquitinase 1 | Sık (%30–79) | 1 durumda |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Sık (%30–79) | 1 durumda |
| BCL11ABCL11 transcription factor A | Sık (%30–79) | 1 durumda |
| BCORL1BCL6 corepressor like 1 | Sık (%30–79) | 1 durumda |
| BMPR1Abone morphogenetic protein receptor type 1A | Sık (%30–79) | 1 durumda |
| BRCA2BRCA2 DNA repair associated | Sık (%30–79) | 1 durumda |
| BRD4bromodomain containing 4 | Sık (%30–79) | 1 durumda |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Sık (%30–79) | 1 durumda |
| CACNA1Hcalcium voltage-gated channel subunit alpha1 H | Sık (%30–79) | 1 durumda |
| CAMTA1calmodulin binding transcription activator 1 | Sık (%30–79) | 1 durumda |
| CASP2caspase 2 | Sık (%30–79) | 1 durumda |
| CDK8cyclin dependent kinase 8 | Sık (%30–79) | 1 durumda |
| CDONcell adhesion associated, oncogene regulated | Sık (%30–79) | 4 durumda |
| CHD2chromodomain helicase DNA binding protein 2 | Sık (%30–79) | 1 durumda |
| CHD7chromodomain helicase DNA binding protein 7 | Sık (%30–79) | 1 durumda |
| CHD8chromodomain helicase DNA binding protein 8 | Sık (%30–79) | 2 durumda |
| CHEK2checkpoint kinase 2 | Sık (%30–79) | 1 durumda |
| CLIP2CAP-Gly domain containing linker protein 2 | Sık (%30–79) | 1 durumda |
| COMTcatechol-O-methyltransferase | Sık (%30–79) | 1 durumda |
| CRBNcereblon | Sık (%30–79) | 1 durumda |
| CRIPTOcripto, EGF-CFC family member | Sık (%30–79) | 4 durumda |
| CSNK2A1casein kinase 2 alpha 1 | Sık (%30–79) | 1 durumda |
| CTSHcathepsin H | Sık (%30–79) | 1 durumda |
| DHCR77-dehydrocholesterol reductase | Sık (%30–79) | 1 durumda |
| DHTKD1dehydrogenase E1 and transketolase domain containing 1 | Sık (%30–79) | 2 durumda |
| DISP1dispatched RND transporter family member 1 | Sık (%30–79) | 4 durumda |
| DLG3discs large MAGUK scaffold protein 3 | Sık (%30–79) | 1 durumda |
| DLL1delta like canonical Notch ligand 1 | Sık (%30–79) | 5 durumda |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Sık (%30–79) | 1 durumda |
| EIF4Heukaryotic translation initiation factor 4H | Sık (%30–79) | 1 durumda |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Sık (%30–79) | 1 durumda |
| ELNelastin | Sık (%30–79) | 2 durumda |
| EPCAMepithelial cell adhesion molecule | Sık (%30–79) | 1 durumda |
| FGF8fibroblast growth factor 8 | Sık (%30–79) | 4 durumda |
| FGFR1fibroblast growth factor receptor 1 | Sık (%30–79) | 2 durumda |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Sık (%30–79) | 1 durumda |
| FLGfilaggrin | Sık (%30–79) | 1 durumda |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Sık (%30–79) | 1 durumda |
| FMR1fragile X messenger ribonucleoprotein 1 | Sık (%30–79) | 1 durumda |
| FOXH1forkhead box H1 | Sık (%30–79) | 4 durumda |
| FOXP1forkhead box P1 | Sık (%30–79) | 2 durumda |
| GABBR1gamma-aminobutyric acid type B receptor subunit 1 | Sık (%30–79) | 1 durumda |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Sık (%30–79) | 1 durumda |
| GABRB3gamma-aminobutyric acid type A receptor subunit beta3 | Sık (%30–79) | 2 durumda |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Sık (%30–79) | 3 durumda |
| GAS1growth arrest specific 1 | Sık (%30–79) | 4 durumda |
| GATA4GATA binding protein 4 | Sık (%30–79) | 1 durumda |
| GLI2GLI family zinc finger 2 | Sık (%30–79) | 4 durumda |
| GLUD1glutamate dehydrogenase 1 | Sık (%30–79) | 1 durumda |
| GNAQG protein subunit alpha q | Sık (%30–79) | 1 durumda |
| GNB5G protein subunit beta 5 | Sık (%30–79) | 1 durumda |
| GP1BBglycoprotein Ib platelet subunit beta | Sık (%30–79) | 1 durumda |
| GRIA1glutamate ionotropic receptor AMPA type subunit 1 | Sık (%30–79) | 1 durumda |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Sık (%30–79) | 3 durumda |
| GTF2Igeneral transcription factor IIi | Sık (%30–79) | 1 durumda |
| GTF2IRD1GTF2I repeat domain containing 1 | Sık (%30–79) | 1 durumda |
| GTF2IRD2GTF2I repeat domain containing 2 | Sık (%30–79) | 1 durumda |
| HCRThypocretin neuropeptide precursor | Sık (%30–79) | 1 durumda |
| HDAC8histone deacetylase 8 | Sık (%30–79) | 1 durumda |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Sık (%30–79) | 1 durumda |
| HIRAhistone cell cycle regulator | Sık (%30–79) | 1 durumda |
| HLA-DQB1major histocompatibility complex, class II, DQ beta 1 | Sık (%30–79) | 1 durumda |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Sık (%30–79) | 1 durumda |
| HNRNPH2heterogeneous nuclear ribonucleoprotein H2 | Sık (%30–79) | 1 durumda |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Sık (%30–79) | 1 durumda |
| HNRNPRheterogeneous nuclear ribonucleoprotein R | Sık (%30–79) | 1 durumda |
| IQSEC1IQ motif and Sec7 domain ArfGEF 1 | Sık (%30–79) | 1 durumda |
| JMJD1Cjumonji domain containing 1C | Sık (%30–79) | 1 durumda |
| JRKJrk helix-turn-helix protein | Sık (%30–79) | 1 durumda |
| KAT5lysine acetyltransferase 5 | Sık (%30–79) | 1 durumda |
| KCNN2potassium calcium-activated channel subfamily N member 2 | Sık (%30–79) | 1 durumda |
| KDM4Blysine demethylase 4B | Sık (%30–79) | 1 durumda |
| KICS2KICSTOR subunit 2 | Sık (%30–79) | 1 durumda |
| KPNA3karyopherin subunit alpha 3 | Sık (%30–79) | 1 durumda |
| KRASKRas proto-oncogene, GTPase | Sık (%30–79) | 1 durumda |
| LIMK1LIM domain kinase 1 | Sık (%30–79) | 1 durumda |
| MADDMAP kinase activating death domain | Sık (%30–79) | 1 durumda |
| MAGEL2MAGE family member L2 | Sık (%30–79) | 1 durumda |
| MAP1Bmicrotubule associated protein 1B | Sık (%30–79) | 1 durumda |
| MAPK1mitogen-activated protein kinase 1 | Sık (%30–79) | 2 durumda |
| MCTP2multiple C2 and transmembrane domain containing 2 | Sık (%30–79) | 1 durumda |
| MED12mediator complex subunit 12 | Sık (%30–79) | 3 durumda |
| MED12Lmediator complex subunit 12L | Sık (%30–79) | 1 durumda |
| METTL27methyltransferase like 27 | Sık (%30–79) | 1 durumda |
| MKRN3makorin ring finger protein 3 | Sık (%30–79) | 1 durumda |
| MLH1mutL homolog 1 | Sık (%30–79) | 1 durumda |
| MLXIPLMLX interacting protein like | Sık (%30–79) | 1 durumda |
| MOGmyelin oligodendrocyte glycoprotein | Sık (%30–79) | 1 durumda |
| MSH2mutS homolog 2 | Sık (%30–79) | 1 durumda |
| MSH6mutS homolog 6 | Sık (%30–79) | 1 durumda |
| MUTYHmutY DNA glycosylase | Sık (%30–79) | 1 durumda |
| NAV3neuron navigator 3 | Sık (%30–79) | 1 durumda |
| NCF1neutrophil cytosolic factor 1 | Sık (%30–79) | 1 durumda |
| NEXMIFneurite extension and migration factor | Sık (%30–79) | 1 durumda |
| NF1neurofibromin 1 | Sık (%30–79) | 1 durumda |
| NFIAnuclear factor I A | Sık (%30–79) | 1 durumda |
| NFIBnuclear factor I B | Sık (%30–79) | 1 durumda |
| NIPA1NIPA magnesium transporter 1 | Sık (%30–79) | 1 durumda |
| NIPA2NIPA magnesium transporter 2 | Sık (%30–79) | 1 durumda |
| NODALnodal growth differentiation factor | Sık (%30–79) | 4 durumda |
| NPAP1nuclear pore associated protein 1 | Sık (%30–79) | 1 durumda |
| NPATnuclear protein, coactivator of histone transcription | Sık (%30–79) | 1 durumda |
| NSUN6NOP2/Sun RNA methyltransferase 6 | Sık (%30–79) | 1 durumda |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Sık (%30–79) | 1 durumda |
| ODC1ornithine decarboxylase 1 | Sık (%30–79) | 2 durumda |
| P2RY11purinergic receptor P2Y11 | Sık (%30–79) | 1 durumda |
| PANK2pantothenate kinase 2 | Sık (%30–79) | 1 durumda |
| PCDH19protocadherin 19 | Sık (%30–79) | 1 durumda |
| PDZD8PDZ domain containing 8 | Sık (%30–79) | 1 durumda |
| PHIPPHIP subunit of CUL4-Ring ligase complex | Sık (%30–79) | 2 durumda |
| PIDD1p53-induced death domain protein 1 | Sık (%30–79) | 1 durumda |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Sık (%30–79) | 1 durumda |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Sık (%30–79) | 1 durumda |
| PLCH1phospholipase C eta 1 | Sık (%30–79) | 1 durumda |
| PMS1PMS1 homolog 1, mismatch repair system component | Sık (%30–79) | 1 durumda |
| PMS2PMS1 homolog 2, mismatch repair system component | Sık (%30–79) | 1 durumda |
| POGZpogo transposable element derived with ZNF domain | Sık (%30–79) | 1 durumda |
| POLD1DNA polymerase delta 1, catalytic subunit | Sık (%30–79) | 1 durumda |
| POLEDNA polymerase epsilon, catalytic subunit | Sık (%30–79) | 1 durumda |
| PPFIA3PPFI scaffold protein A3 | Sık (%30–79) | 1 durumda |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Sık (%30–79) | 1 durumda |
| PRKD1protein kinase D1 | Sık (%30–79) | 1 durumda |
| PRR12proline rich 12 | Sık (%30–79) | 1 durumda |
| PSMB1proteasome 20S subunit beta 1 | Sık (%30–79) | 1 durumda |
| PTCH1patched 1 | Sık (%30–79) | 4 durumda |
| PUS7pseudouridine synthase 7 | Sık (%30–79) | 1 durumda |
| PWAR1Prader Willi/Angelman region RNA 1 | Sık (%30–79) | 1 durumda |
| PWRN1Prader-Willi region non-protein coding RNA 1 | Sık (%30–79) | 1 durumda |
| RAD21RAD21 cohesin complex component | Sık (%30–79) | 1 durumda |
| RELREL proto-oncogene, NF-kB subunit | Sık (%30–79) | 1 durumda |
| RFC2replication factor C subunit 2 | Sık (%30–79) | 1 durumda |
| RFX7regulatory factor X7 | Sık (%30–79) | 1 durumda |
| RPS20ribosomal protein S20 | Sık (%30–79) | 1 durumda |
| RREB1ras responsive element binding protein 1 | Sık (%30–79) | 1 durumda |
| SATB2SATB homeobox 2 | Sık (%30–79) | 2 durumda |
| SCAPERS-phase cyclin A associated protein in the ER | Sık (%30–79) | 1 durumda |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Sık (%30–79) | 2 durumda |
| SEC24CSEC24 homolog C, COPII component | Sık (%30–79) | 1 durumda |
| SEMA3Esemaphorin 3E | Sık (%30–79) | 1 durumda |
| SEMA4Asemaphorin 4A | Sık (%30–79) | 1 durumda |
| SHHsonic hedgehog signaling molecule | Sık (%30–79) | 4 durumda |
| SHMT2serine hydroxymethyltransferase 2 | Sık (%30–79) | 1 durumda |
| SIM1SIM bHLH transcription factor 1 | Sık (%30–79) | 1 durumda |
| SIX3SIX homeobox 3 | Sık (%30–79) | 4 durumda |
| SLC2A1solute carrier family 2 member 1 | Sık (%30–79) | 1 durumda |
| SLC6A1solute carrier family 6 member 1 | Sık (%30–79) | 3 durumda |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Sık (%30–79) | 2 durumda |
| SMC1Astructural maintenance of chromosomes 1A | Sık (%30–79) | 2 durumda |
| SMC3structural maintenance of chromosomes 3 | Sık (%30–79) | 1 durumda |
| SNORD115-1small nucleolar RNA, C/D box 115-1 | Sık (%30–79) | 1 durumda |
| SNORD116-1small nucleolar RNA, C/D box 116-1 | Sık (%30–79) | 1 durumda |
| SOX6SRY-box transcription factor 6 | Sık (%30–79) | 1 durumda |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Sık (%30–79) | 1 durumda |
| SPTBN1spectrin beta, non-erythrocytic 1 | Sık (%30–79) | 1 durumda |
| STAG2STAG2 cohesin complex component | Sık (%30–79) | 3 durumda |
| STILSTIL centriolar assembly protein | Sık (%30–79) | 4 durumda |
| STSsteroid sulfatase | Sık (%30–79) | 2 durumda |
| STX1Asyntaxin 1A | Sık (%30–79) | 1 durumda |
| SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit | Sık (%30–79) | 1 durumda |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Sık (%30–79) | 2 durumda |
| TBCBtubulin folding cofactor B | Sık (%30–79) | 1 durumda |
| TBL2transducin beta like 2 | Sık (%30–79) | 1 durumda |
| TBX1T-box transcription factor 1 | Sık (%30–79) | 3 durumda |
| TET3tet methylcytosine dioxygenase 3 | Sık (%30–79) | 1 durumda |
| TGFBR2transforming growth factor beta receptor 2 | Sık (%30–79) | 1 durumda |
| TGIF1TGFB induced factor homeobox 1 | Sık (%30–79) | 4 durumda |
| TKTtransketolase | Sık (%30–79) | 2 durumda |
| TMEM270transmembrane protein 270 | Sık (%30–79) | 1 durumda |
| TNFSF4TNF superfamily member 4 | Sık (%30–79) | 1 durumda |
| TNRC6Btrinucleotide repeat containing adaptor 6B | Sık (%30–79) | 1 durumda |
| TRIOtrio Rho guanine nucleotide exchange factor | Sık (%30–79) | 3 durumda |
| TUBA1Atubulin alpha 1a | Sık (%30–79) | 1 durumda |
| TUBB2Btubulin beta 2B class IIb | Sık (%30–79) | 2 durumda |
| TUBB3tubulin beta 3 class III | Sık (%30–79) | 1 durumda |
| TUBG1tubulin gamma 1 | Sık (%30–79) | 1 durumda |
| UBAP2Lubiquitin associated protein 2 like | Sık (%30–79) | 1 durumda |
| UBE4Aubiquitination factor E4A | Sık (%30–79) | 1 durumda |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Sık (%30–79) | 1 durumda |
| UPF3BUPF3B regulator of nonsense mediated mRNA decay | Sık (%30–79) | 1 durumda |
| USP7ubiquitin specific peptidase 7 | Sık (%30–79) | 1 durumda |
| VPS37DVPS37D subunit of ESCRT-I | Sık (%30–79) | 1 durumda |
| XPO1exportin 1 | Sık (%30–79) | 1 durumda |
| ZDHHC9zDHHC palmitoyltransferase 9 | Sık (%30–79) | 1 durumda |
| ZFXzinc finger protein X-linked | Sık (%30–79) | 1 durumda |
| ZIC2Zic family zinc finger 2 | Sık (%30–79) | 4 durumda |
| ZNF292zinc finger protein 292 | Sık (%30–79) | 1 durumda |
| ZNF365zinc finger protein 365 | Sık (%30–79) | 1 durumda |
| AARS1alanyl-tRNA synthetase 1 | Bazen (%5–29) | 1 durumda |
| ACTL6Bactin like 6B | Bazen (%5–29) | 1 durumda |
| ADH5alcohol dehydrogenase 5 (class III), chi polypeptide | Bazen (%5–29) | 1 durumda |
| ALKBH8alkB homolog 8, tRNA methyltransferase | Bazen (%5–29) | 1 durumda |
| ANAPC1anaphase promoting complex subunit 1 | Bazen (%5–29) | 1 durumda |
| ANKRD11ankyrin repeat domain 11 | Bazen (%5–29) | 1 durumda |
| ANKRD17ankyrin repeat domain 17 | Bazen (%5–29) | 1 durumda |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Bazen (%5–29) | 1 durumda |
| ARPC4actin related protein 2/3 complex subunit 4 | Bazen (%5–29) | 1 durumda |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Bazen (%5–29) | 1 durumda |
| ASLargininosuccinate lyase | Bazen (%5–29) | 1 durumda |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Bazen (%5–29) | 2 durumda |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Bazen (%5–29) | 1 durumda |
| ATP6V1AATPase H+ transporting V1 subunit A | Bazen (%5–29) | 1 durumda |
| AUTS2activator of transcription and developmental regulator AUTS2 | Bazen (%5–29) | 1 durumda |
| BCKDKbranched chain keto acid dehydrogenase kinase | Bazen (%5–29) | 1 durumda |
| BCRBCR activator of RhoGEF and GTPase | Bazen (%5–29) | 1 durumda |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Bazen (%5–29) | 1 durumda |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Bazen (%5–29) | 1 durumda |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Bazen (%5–29) | 1 durumda |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Bazen (%5–29) | 1 durumda |
| CARS1cysteinyl-tRNA synthetase 1 | Bazen (%5–29) | 1 durumda |
| CDC42BPBCDC42 binding protein kinase beta | Bazen (%5–29) | 1 durumda |
| CDH11cadherin 11 | Bazen (%5–29) | 1 durumda |
| CDK19cyclin dependent kinase 19 | Bazen (%5–29) | 1 durumda |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Bazen (%5–29) | 1 durumda |
| CELF2CUGBP Elav-like family member 2 | Bazen (%5–29) | 1 durumda |
| CHD3chromodomain helicase DNA binding protein 3 | Bazen (%5–29) | 1 durumda |
| CHD5chromodomain helicase DNA binding protein 5 | Bazen (%5–29) | 1 durumda |
| CHRNA7cholinergic receptor nicotinic alpha 7 subunit | Bazen (%5–29) | 1 durumda |
| CICcapicua transcriptional repressor | Bazen (%5–29) | 1 durumda |
| CLTCclathrin heavy chain | Bazen (%5–29) | 2 durumda |
| CRKLCRK like proto-oncogene, adaptor protein | Bazen (%5–29) | 1 durumda |
| CTCFCCCTC-binding factor | Bazen (%5–29) | 1 durumda |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Bazen (%5–29) | 1 durumda |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Bazen (%5–29) | 1 durumda |
| DALRD3DALR anticodon binding domain containing 3 | Bazen (%5–29) | 1 durumda |
| DCDC2doublecortin domain containing 2 | Bazen (%5–29) | 1 durumda |
| DDB1damage specific DNA binding protein 1 | Bazen (%5–29) | 1 durumda |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Bazen (%5–29) | 2 durumda |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Bazen (%5–29) | 1 durumda |
| DNAJC12DnaJ heat shock protein family (Hsp40) member C12 | Bazen (%5–29) | 1 durumda |
| DNM1dynamin 1 | Bazen (%5–29) | 1 durumda |
| DPH1diphthamide biosynthesis 1 | Bazen (%5–29) | 1 durumda |
| DPH2diphthamide biosynthesis 2 | Bazen (%5–29) | 1 durumda |
| DPYSdihydropyrimidinase | Bazen (%5–29) | 1 durumda |
| DTNAdystrobrevin alpha | Bazen (%5–29) | 1 durumda |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Bazen (%5–29) | 1 durumda |
| EBF3EBF transcription factor 3 | Bazen (%5–29) | 1 durumda |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Bazen (%5–29) | 1 durumda |
| EHMT1euchromatic histone lysine methyltransferase 1 | Bazen (%5–29) | 1 durumda |
| FANCD2FA complementation group D2 | Bazen (%5–29) | 1 durumda |
| FBXO28F-box protein 28 | Bazen (%5–29) | 1 durumda |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Bazen (%5–29) | 2 durumda |
| FGF12fibroblast growth factor 12 | Bazen (%5–29) | 1 durumda |
| FGFR3fibroblast growth factor receptor 3 | Bazen (%5–29) | 1 durumda |
| FOXG1forkhead box G1 | Bazen (%5–29) | 1 durumda |
| FZR1fizzy and cell division cycle 20 related 1 | Bazen (%5–29) | 1 durumda |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Bazen (%5–29) | 1 durumda |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Bazen (%5–29) | 1 durumda |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Bazen (%5–29) | 1 durumda |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Bazen (%5–29) | 1 durumda |
| GALCgalactosylceramidase | Bazen (%5–29) | 1 durumda |
| GALTgalactose-1-phosphate uridylyltransferase | Bazen (%5–29) | 1 durumda |
| GBA1glucosylceramidase beta 1 | Bazen (%5–29) | 1 durumda |
| GNB1G protein subunit beta 1 | Bazen (%5–29) | 1 durumda |
| GRIK2glutamate ionotropic receptor kainate type subunit 2 | Bazen (%5–29) | 1 durumda |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Bazen (%5–29) | 1 durumda |
| GTF3C3general transcription factor IIIC subunit 3 | Bazen (%5–29) | 1 durumda |
| H4C5H4 clustered histone 5 | Bazen (%5–29) | 1 durumda |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Bazen (%5–29) | 2 durumda |
| HDAC4histone deacetylase 4 | Bazen (%5–29) | 1 durumda |
| HMGA2high mobility group AT-hook 2 | Bazen (%5–29) | 1 durumda |
| HOXA2homeobox A2 | Bazen (%5–29) | 1 durumda |
| HPD4-hydroxyphenylpyruvate dioxygenase | Bazen (%5–29) | 1 durumda |
| HSPG2heparan sulfate proteoglycan 2 | Bazen (%5–29) | 1 durumda |
| IFNGinterferon gamma | Bazen (%5–29) | 2 durumda |
| IGF2insulin like growth factor 2 | Bazen (%5–29) | 1 durumda |
| IVDisovaleryl-CoA dehydrogenase | Bazen (%5–29) | 1 durumda |
| JARID2jumonji and AT-rich interaction domain containing 2 | Bazen (%5–29) | 1 durumda |
| KAT8lysine acetyltransferase 8 | Bazen (%5–29) | 1 durumda |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Bazen (%5–29) | 1 durumda |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Bazen (%5–29) | 1 durumda |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Bazen (%5–29) | 1 durumda |
| KDM2Blysine demethylase 2B | Bazen (%5–29) | 1 durumda |
| KDM3Blysine demethylase 3B | Bazen (%5–29) | 1 durumda |
| KIF14kinesin family member 14 | Bazen (%5–29) | 1 durumda |
| KMT2Blysine methyltransferase 2B | Bazen (%5–29) | 2 durumda |
| KMT5Blysine methyltransferase 5B | Bazen (%5–29) | 1 durumda |
| LAMP2lysosome associated membrane protein 2 | Bazen (%5–29) | 1 durumda |
| LGI3leucine rich repeat LGI family member 3 | Bazen (%5–29) | 1 durumda |
| LHCGRluteinizing hormone/choriogonadotropin receptor | Bazen (%5–29) | 1 durumda |
| LMAN2Llectin, mannose binding 2 like | Bazen (%5–29) | 1 durumda |
| MAB21L1mab-21 like 1 | Bazen (%5–29) | 1 durumda |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Bazen (%5–29) | 1 durumda |
| MED13mediator complex subunit 13 | Bazen (%5–29) | 1 durumda |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Bazen (%5–29) | 1 durumda |
| NBEAneurobeachin | Bazen (%5–29) | 1 durumda |
| NDPnorrin cystine knot growth factor NDP | Bazen (%5–29) | 1 durumda |
| NECAP1NECAP endocytosis associated 1 | Bazen (%5–29) | 1 durumda |
| NR2F1nuclear receptor subfamily 2 group F member 1 | Bazen (%5–29) | 1 durumda |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Bazen (%5–29) | 1 durumda |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Bazen (%5–29) | 1 durumda |
| OPHN1oligophrenin 1 | Bazen (%5–29) | 1 durumda |
| OTCornithine transcarbamylase | Bazen (%5–29) | 1 durumda |
| PACS2phosphofurin acidic cluster sorting protein 2 | Bazen (%5–29) | 1 durumda |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Bazen (%5–29) | 1 durumda |
| PCGF2polycomb group ring finger 2 | Bazen (%5–29) | 1 durumda |
| PCNTpericentrin | Bazen (%5–29) | 1 durumda |
| PDGFRBplatelet derived growth factor receptor beta | Bazen (%5–29) | 1 durumda |
| PLAG1PLAG1 zinc finger | Bazen (%5–29) | 1 durumda |
| PPM1Dprotein phosphatase, Mg2+/Mn2+ dependent 1D | Bazen (%5–29) | 1 durumda |
| PPP1R12Aprotein phosphatase 1 regulatory subunit 12A | Bazen (%5–29) | 1 durumda |
| PPP2CAprotein phosphatase 2 catalytic subunit alpha | Bazen (%5–29) | 1 durumda |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Bazen (%5–29) | 1 durumda |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Bazen (%5–29) | 1 durumda |
| REREarginine-glutamic acid dipeptide repeats | Bazen (%5–29) | 2 durumda |
| RPS6KC1ribosomal protein S6 kinase C1 | Bazen (%5–29) | 1 durumda |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Bazen (%5–29) | 2 durumda |
| SETBP1SET binding protein 1 | Bazen (%5–29) | 1 durumda |
| SGSM3small G protein signaling modulator 3 | Bazen (%5–29) | 1 durumda |
| SLC13A5solute carrier family 13 member 5 | Bazen (%5–29) | 1 durumda |
| SLC1A2solute carrier family 1 member 2 | Bazen (%5–29) | 1 durumda |
| SLC38A3solute carrier family 38 member 3 | Bazen (%5–29) | 1 durumda |
| SLC6A11solute carrier family 6 member 11 | Bazen (%5–29) | 1 durumda |
| SLC7A6OSsolute carrier family 7 member 6 opposite strand | Bazen (%5–29) | 1 durumda |
| SLC9A7solute carrier family 9 member A7 | Bazen (%5–29) | 1 durumda |
| SLF2SMC5/6 complex localization factor 2 | Bazen (%5–29) | 1 durumda |
| SMC5structural maintenance of chromosomes 5 | Bazen (%5–29) | 1 durumda |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Bazen (%5–29) | 1 durumda |
| SOX5SRY-box transcription factor 5 | Bazen (%5–29) | 1 durumda |
| SPENspen family transcriptional repressor | Bazen (%5–29) | 1 durumda |
| SPRED1sprouty related EVH1 domain containing 1 | Bazen (%5–29) | 2 durumda |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Bazen (%5–29) | 1 durumda |
| SRCAPSnf2 related CREBBP activator protein | Bazen (%5–29) | 1 durumda |
| SRPX2sushi repeat containing protein X-linked 2 | Bazen (%5–29) | 1 durumda |
| SRRM2serine/arginine repetitive matrix 2 | Bazen (%5–29) | 1 durumda |
| STEEP1STING1 ER exit protein 1 | Bazen (%5–29) | 1 durumda |
| SYNJ1synaptojanin 1 | Bazen (%5–29) | 1 durumda |
| SZT2SZT2 subunit of KICSTOR complex | Bazen (%5–29) | 1 durumda |
| TAF1TATA-box binding protein associated factor 1 | Bazen (%5–29) | 1 durumda |
| TANC2tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 | Bazen (%5–29) | 1 durumda |
| TAOK1TAO kinase 1 | Bazen (%5–29) | 1 durumda |
| TBC1D23TBC1 domain family member 23 | Bazen (%5–29) | 1 durumda |
| TBX2T-box transcription factor 2 | Bazen (%5–29) | 1 durumda |
| TMCO1transmembrane and coiled-coil domains 1 | Bazen (%5–29) | 1 durumda |
| TMEM67transmembrane protein 67 | Bazen (%5–29) | 1 durumda |
| TNIKTRAF2 and NCK interacting kinase | Bazen (%5–29) | 1 durumda |
| TRAK1trafficking kinesin protein 1 | Bazen (%5–29) | 1 durumda |
| TSC1TSC complex subunit 1 | Bazen (%5–29) | 2 durumda |
| TSC2TSC complex subunit 2 | Bazen (%5–29) | 2 durumda |
| TSHBthyroid stimulating hormone subunit beta | Bazen (%5–29) | 1 durumda |
| UBA5ubiquitin like modifier activating enzyme 5 | Bazen (%5–29) | 1 durumda |
| UFSP2UFM1 specific peptidase 2 | Bazen (%5–29) | 1 durumda |
| WBP11WW domain binding protein 11 | Bazen (%5–29) | 1 durumda |
| WDR83OSWD repeat domain 83 opposite strand | Bazen (%5–29) | 1 durumda |
| YME1L1YME1 like 1 ATPase | Bazen (%5–29) | 1 durumda |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Bazen (%5–29) | 2 durumda |
| YY1YY1 transcription factor | Bazen (%5–29) | 2 durumda |
| ZMYM2zinc finger MYM-type containing 2 | Bazen (%5–29) | 1 durumda |
| APC2APC regulator of Wnt signaling pathway 2 | Seyrek (%1–4) | 1 durumda |
| CABP4calcium binding protein 4 | Seyrek (%1–4) | 1 durumda |
| CHRNA2cholinergic receptor nicotinic alpha 2 subunit | Seyrek (%1–4) | 1 durumda |
| CHRNA4cholinergic receptor nicotinic alpha 4 subunit | Seyrek (%1–4) | 1 durumda |
| CHRNB2cholinergic receptor nicotinic beta 2 subunit | Seyrek (%1–4) | 1 durumda |
| CRHcorticotropin releasing hormone | Seyrek (%1–4) | 1 durumda |
| HEPACAMhepatic and glial cell adhesion molecule | Seyrek (%1–4) | 1 durumda |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Seyrek (%1–4) | 1 durumda |
| NAA15N-alpha-acetyltransferase 15, NatA auxiliary subunit | Seyrek (%1–4) | 1 durumda |
| NOP56NOP56 ribonucleoprotein | Seyrek (%1–4) | 1 durumda |
| PTENphosphatase and tensin homolog | Seyrek (%1–4) | 1 durumda |
| SMPD1sphingomyelin phosphodiesterase 1 | Seyrek (%1–4) | 1 durumda |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Seyrek (%1–4) | 1 durumda |
| ABCD1ATP binding cassette subfamily D member 1 | Kaydedilmedi | 1 durumda |
| ASPMassembly factor for spindle microtubules | Kaydedilmedi | 1 durumda |
| DRD4dopamine receptor D4 | Kaydedilmedi | 1 durumda |
| DRD5dopamine receptor D5 | Kaydedilmedi | 1 durumda |
| HDChistidine decarboxylase | Kaydedilmedi | 1 durumda |
| KIF11kinesin family member 11 | Kaydedilmedi | 1 durumda |
| NKAPNFKB activating protein | Kaydedilmedi | 1 durumda |
| NLGN1neuroligin 1 | Kaydedilmedi | 1 durumda |
| PAHphenylalanine hydroxylase | Kaydedilmedi | 1 durumda |
| PRKCGprotein kinase C gamma | Kaydedilmedi | 1 durumda |
| PTCHD1patched domain containing 1 | Kaydedilmedi | 1 durumda |
| SIN3ASIN3 transcription regulator family member A | Kaydedilmedi | 1 durumda |
| SLC6A8solute carrier family 6 member 8 | Kaydedilmedi | 1 durumda |
| SLITRK1SLIT and NTRK like family member 1 | Kaydedilmedi | 1 durumda |
| TBL1Xtransducin beta like 1 X-linked | Kaydedilmedi | 1 durumda |
| TLK2tousled like kinase 2 | Kaydedilmedi | 1 durumda |
| TNPO2transportin 2 | Kaydedilmedi | 1 durumda |
| ZMIZ1zinc finger MIZ-type containing 1 | Kaydedilmedi | 1 durumda |
Bu özelliğin, genin ilişkili olduğu durumlardan birine sahip kişiler arasında ne sıklıkta görüldüğü; Human Phenotype Ontology'nin kaydettiği şekliyle, bunlar arasında en sık görülen oran. Bu sayfalar özellikleri ve bunların arkasındaki araştırmaları anlatır; tanı koymaz. Belirtiler hakkında bir doktora veya genetik danışmana başvurmanız gerekir.
Daha geniş özellikler
Bilgilerin kaynağı
- Human Phenotype Ontology, 2026-09-01 sürümü: özellik, adları, tanımı ve buna bağlı genler. Ayrıntılar için hpo.jax.org adresine bakın.
- Veri sürümü 2026.10.16-c6eea6bf.
Tek bir test. Ömür boyu yanıtlar.
$449'den başlayanÜcretsiz kargo · Sonuçlar 6–8 hafta içinde