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