Egenskap
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.
Sammendrag
- Også kalt
- Attention deficit disorder, Attention deficit-hyperactivity disorder, Attention deficits, Childhood attention deficit/hyperactivity disorder, ADHD
- Kroppssystem
- Abnormality of the nervous system
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Endringer i disse genene forårsaker sjeldne tilstander der Attention deficit forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| AMOTL1angiomotin like 1 | Alltid | I 1 tilstand |
| ATP9AATPase phospholipid transporting 9A | Alltid | I 1 tilstand |
| CACHD1cache domain containing 1 | Alltid | I 1 tilstand |
| CDH2cadherin 2 | Alltid | I 2 tilstander |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Alltid | I 2 tilstander |
| CORO1Acoronin 1A | Alltid | I 1 tilstand |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Alltid | I 1 tilstand |
| DYNC1I2dynein cytoplasmic 1 intermediate chain 2 | Alltid | I 1 tilstand |
| EIF2AK1eukaryotic translation initiation factor 2 alpha kinase 1 | Alltid | I 1 tilstand |
| EIF4A2eukaryotic translation initiation factor 4A2 | Alltid | I 1 tilstand |
| FANCLFA complementation group L | Alltid | I 1 tilstand |
| FERRY3FERRY endosomal RAB5 effector complex subunit 3 | Alltid | I 1 tilstand |
| FRYLFRY like transcription coactivator | Alltid | I 1 tilstand |
| KCNA4potassium voltage-gated channel subfamily A member 4 | Alltid | I 1 tilstand |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Alltid | I 2 tilstander |
| KCNK3potassium two pore domain channel subfamily K member 3 | Alltid | I 1 tilstand |
| KDM6Blysine demethylase 6B | Alltid | I 1 tilstand |
| LRRC7leucine rich repeat containing 7 | Alltid | I 1 tilstand |
| MARK2microtubule affinity regulating kinase 2 | Alltid | I 1 tilstand |
| MAU2MAU2 sister chromatid cohesion factor | Alltid | I 2 tilstander |
| MED16mediator complex subunit 16 | Alltid | I 1 tilstand |
| MRPL39mitochondrial ribosomal protein L39 | Alltid | I 1 tilstand |
| MYT1Lmyelin transcription factor 1 like | Alltid | I 2 tilstander |
| NOTCH3notch receptor 3 | Alltid | I 1 tilstand |
| NSD1nuclear receptor binding SET domain protein 1 | Alltid | I 2 tilstander |
| PRKAR1Bprotein kinase cAMP-dependent type I regulatory subunit beta | Alltid | I 1 tilstand |
| RNU2-2RNA, U2 small nuclear 2 | Alltid | I 1 tilstand |
| RPL17ribosomal protein L17 | Alltid | I 1 tilstand |
| RSRC1arginine and serine rich coiled-coil 1 | Alltid | I 1 tilstand |
| SH3KBP1SH3 domain containing kinase binding protein 1 | Alltid | I 1 tilstand |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Alltid | I 1 tilstand |
| SLC25A36solute carrier family 25 member 36 | Alltid | I 1 tilstand |
| SLC6A19solute carrier family 6 member 19 | Alltid | I 1 tilstand |
| THRBthyroid hormone receptor beta | Alltid | I 3 tilstander |
| TIAM1TIAM Rac1 associated GEF 1 | Alltid | I 1 tilstand |
| TPH2tryptophan hydroxylase 2 | Alltid | I 1 tilstand |
| TRAPPC14trafficking protein particle complex subunit 14 | Alltid | I 1 tilstand |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Alltid | I 1 tilstand |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Alltid | I 1 tilstand |
| WSB2WD repeat and SOCS box containing 2 | Alltid | I 1 tilstand |
Vis 406 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| ZMYM3zinc finger MYM-type containing 3 | Alltid | I 1 tilstand |
| CAPRIN1cell cycle associated protein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| CNTNAP2contactin associated protein 2 | Svært ofte (80–99 %) | I 1 tilstand |
| CPLX1complexin 1 | Svært ofte (80–99 %) | I 1 tilstand |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Svært ofte (80–99 %) | I 2 tilstander |
| IGF1insulin like growth factor 1 | Svært ofte (80–99 %) | I 1 tilstand |
| NBNnibrin | Svært ofte (80–99 %) | I 1 tilstand |
| NIPBLNIPBL cohesin loading factor | Svært ofte (80–99 %) | I 2 tilstander |
| PHF21APHD finger protein 21A | Svært ofte (80–99 %) | I 1 tilstand |
| POLA1DNA polymerase alpha 1, catalytic subunit | Svært ofte (80–99 %) | I 2 tilstander |
| PRNPprion protein (Kanno blood group) | Svært ofte (80–99 %) | I 1 tilstand |
| RAI1retinoic acid induced 1 | Svært ofte (80–99 %) | I 2 tilstander |
| RIC1RIC1 partner of RAB6A GEF complex | Svært ofte (80–99 %) | I 1 tilstand |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Svært ofte (80–99 %) | I 3 tilstander |
| SH2B1SH2B adaptor protein 1 | Svært ofte (80–99 %) | I 2 tilstander |
| TBC1D24TBC1 domain family member 24 | Svært ofte (80–99 %) | I 1 tilstand |
| UBE3Aubiquitin protein ligase E3A | Svært ofte (80–99 %) | I 1 tilstand |
| WACWW domain containing adaptor with coiled-coil | Svært ofte (80–99 %) | I 3 tilstander |
| ADGRL1adhesion G protein-coupled receptor L1 | Ofte (30–79 %) | I 1 tilstand |
| ADNPactivity dependent neuroprotector homeobox | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| DISP1dispatched RND transporter family member 1 | Ofte (30–79 %) | I 4 tilstander |
| DLG3discs large MAGUK scaffold protein 3 | Ofte (30–79 %) | I 1 tilstand |
| DLL1delta like canonical Notch ligand 1 | Ofte (30–79 %) | I 5 tilstander |
| 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 tilstander |
| EPCAMepithelial cell adhesion molecule | Ofte (30–79 %) | I 1 tilstand |
| FGF8fibroblast growth factor 8 | Ofte (30–79 %) | I 4 tilstander |
| FGFR1fibroblast growth factor receptor 1 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| FOXP1forkhead box P1 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Ofte (30–79 %) | I 3 tilstander |
| GAS1growth arrest specific 1 | Ofte (30–79 %) | I 4 tilstander |
| GATA4GATA binding protein 4 | Ofte (30–79 %) | I 1 tilstand |
| GLI2GLI family zinc finger 2 | Ofte (30–79 %) | I 4 tilstander |
| 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 tilstander |
| 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 tilstander |
| MCTP2multiple C2 and transmembrane domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| MED12mediator complex subunit 12 | Ofte (30–79 %) | I 3 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| SLC2A1solute carrier family 2 member 1 | Ofte (30–79 %) | I 1 tilstand |
| SLC6A1solute carrier family 6 member 1 | Ofte (30–79 %) | I 3 tilstander |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Ofte (30–79 %) | I 2 tilstander |
| SMC1Astructural maintenance of chromosomes 1A | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| STILSTIL centriolar assembly protein | Ofte (30–79 %) | I 4 tilstander |
| STSsteroid sulfatase | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| TKTtransketolase | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| TUBA1Atubulin alpha 1a | Ofte (30–79 %) | I 1 tilstand |
| TUBB2Btubulin beta 2B class IIb | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| ZNF292zinc finger protein 292 | Ofte (30–79 %) | I 1 tilstand |
| ZNF365zinc finger protein 365 | Ofte (30–79 %) | I 1 tilstand |
| AARS1alanyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ACTL6Bactin like 6B | Noen ganger (5–29 %) | I 1 tilstand |
| ADH5alcohol dehydrogenase 5 (class III), chi polypeptide | Noen ganger (5–29 %) | I 1 tilstand |
| ALKBH8alkB homolog 8, tRNA methyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| ANAPC1anaphase promoting complex subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ANKRD11ankyrin repeat domain 11 | Noen ganger (5–29 %) | I 1 tilstand |
| ANKRD17ankyrin repeat domain 17 | Noen ganger (5–29 %) | I 1 tilstand |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ARPC4actin related protein 2/3 complex subunit 4 | Noen ganger (5–29 %) | I 1 tilstand |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Noen ganger (5–29 %) | I 1 tilstand |
| ASLargininosuccinate lyase | Noen ganger (5–29 %) | I 1 tilstand |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Noen ganger (5–29 %) | I 2 tilstander |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Noen ganger (5–29 %) | I 1 tilstand |
| ATP6V1AATPase H+ transporting V1 subunit A | Noen ganger (5–29 %) | I 1 tilstand |
| AUTS2activator of transcription and developmental regulator AUTS2 | Noen ganger (5–29 %) | I 1 tilstand |
| BCKDKbranched chain keto acid dehydrogenase kinase | Noen ganger (5–29 %) | I 1 tilstand |
| BCRBCR activator of RhoGEF and GTPase | Noen ganger (5–29 %) | I 1 tilstand |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Noen ganger (5–29 %) | I 1 tilstand |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Noen ganger (5–29 %) | I 1 tilstand |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Noen ganger (5–29 %) | I 1 tilstand |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CARS1cysteinyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CDC42BPBCDC42 binding protein kinase beta | Noen ganger (5–29 %) | I 1 tilstand |
| CDH11cadherin 11 | Noen ganger (5–29 %) | I 1 tilstand |
| CDK19cyclin dependent kinase 19 | Noen ganger (5–29 %) | I 1 tilstand |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Noen ganger (5–29 %) | I 1 tilstand |
| CELF2CUGBP Elav-like family member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CHD3chromodomain helicase DNA binding protein 3 | Noen ganger (5–29 %) | I 1 tilstand |
| CHD5chromodomain helicase DNA binding protein 5 | Noen ganger (5–29 %) | I 1 tilstand |
| CHRNA7cholinergic receptor nicotinic alpha 7 subunit | Noen ganger (5–29 %) | I 1 tilstand |
| CICcapicua transcriptional repressor | Noen ganger (5–29 %) | I 1 tilstand |
| CLTCclathrin heavy chain | Noen ganger (5–29 %) | I 2 tilstander |
| CRKLCRK like proto-oncogene, adaptor protein | Noen ganger (5–29 %) | I 1 tilstand |
| CTCFCCCTC-binding factor | Noen ganger (5–29 %) | I 1 tilstand |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DALRD3DALR anticodon binding domain containing 3 | Noen ganger (5–29 %) | I 1 tilstand |
| DCDC2doublecortin domain containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| DDB1damage specific DNA binding protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Noen ganger (5–29 %) | I 2 tilstander |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Noen ganger (5–29 %) | I 1 tilstand |
| DNAJC12DnaJ heat shock protein family (Hsp40) member C12 | Noen ganger (5–29 %) | I 1 tilstand |
| DNM1dynamin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DPH1diphthamide biosynthesis 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DPH2diphthamide biosynthesis 2 | Noen ganger (5–29 %) | I 1 tilstand |
| DPYSdihydropyrimidinase | Noen ganger (5–29 %) | I 1 tilstand |
| DTNAdystrobrevin alpha | Noen ganger (5–29 %) | I 1 tilstand |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Noen ganger (5–29 %) | I 1 tilstand |
| EBF3EBF transcription factor 3 | Noen ganger (5–29 %) | I 1 tilstand |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Noen ganger (5–29 %) | I 1 tilstand |
| EHMT1euchromatic histone lysine methyltransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| FANCD2FA complementation group D2 | Noen ganger (5–29 %) | I 1 tilstand |
| FBXO28F-box protein 28 | Noen ganger (5–29 %) | I 1 tilstand |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Noen ganger (5–29 %) | I 2 tilstander |
| FGF12fibroblast growth factor 12 | Noen ganger (5–29 %) | I 1 tilstand |
| FGFR3fibroblast growth factor receptor 3 | Noen ganger (5–29 %) | I 1 tilstand |
| FOXG1forkhead box G1 | Noen ganger (5–29 %) | I 1 tilstand |
| FZR1fizzy and cell division cycle 20 related 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Noen ganger (5–29 %) | I 1 tilstand |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Noen ganger (5–29 %) | I 1 tilstand |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Noen ganger (5–29 %) | I 1 tilstand |
| GALCgalactosylceramidase | Noen ganger (5–29 %) | I 1 tilstand |
| GALTgalactose-1-phosphate uridylyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| GBA1glucosylceramidase beta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GNB1G protein subunit beta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GRIK2glutamate ionotropic receptor kainate type subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Noen ganger (5–29 %) | I 1 tilstand |
| GTF3C3general transcription factor IIIC subunit 3 | Noen ganger (5–29 %) | I 1 tilstand |
| H4C5H4 clustered histone 5 | Noen ganger (5–29 %) | I 1 tilstand |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Noen ganger (5–29 %) | I 2 tilstander |
| HDAC4histone deacetylase 4 | Noen ganger (5–29 %) | I 1 tilstand |
| HMGA2high mobility group AT-hook 2 | Noen ganger (5–29 %) | I 1 tilstand |
| HOXA2homeobox A2 | Noen ganger (5–29 %) | I 1 tilstand |
| HPD4-hydroxyphenylpyruvate dioxygenase | Noen ganger (5–29 %) | I 1 tilstand |
| HSPG2heparan sulfate proteoglycan 2 | Noen ganger (5–29 %) | I 1 tilstand |
| IFNGinterferon gamma | Noen ganger (5–29 %) | I 2 tilstander |
| IGF2insulin like growth factor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| IVDisovaleryl-CoA dehydrogenase | Noen ganger (5–29 %) | I 1 tilstand |
| JARID2jumonji and AT-rich interaction domain containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| KAT8lysine acetyltransferase 8 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| KDM2Blysine demethylase 2B | Noen ganger (5–29 %) | I 1 tilstand |
| KDM3Blysine demethylase 3B | Noen ganger (5–29 %) | I 1 tilstand |
| KIF14kinesin family member 14 | Noen ganger (5–29 %) | I 1 tilstand |
| KMT2Blysine methyltransferase 2B | Noen ganger (5–29 %) | I 2 tilstander |
| KMT5Blysine methyltransferase 5B | Noen ganger (5–29 %) | I 1 tilstand |
| LAMP2lysosome associated membrane protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| LGI3leucine rich repeat LGI family member 3 | Noen ganger (5–29 %) | I 1 tilstand |
| LHCGRluteinizing hormone/choriogonadotropin receptor | Noen ganger (5–29 %) | I 1 tilstand |
| LMAN2Llectin, mannose binding 2 like | Noen ganger (5–29 %) | I 1 tilstand |
| MAB21L1mab-21 like 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MED13mediator complex subunit 13 | Noen ganger (5–29 %) | I 1 tilstand |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| NBEAneurobeachin | Noen ganger (5–29 %) | I 1 tilstand |
| NDPnorrin cystine knot growth factor NDP | Noen ganger (5–29 %) | I 1 tilstand |
| NECAP1NECAP endocytosis associated 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NR2F1nuclear receptor subfamily 2 group F member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Noen ganger (5–29 %) | I 1 tilstand |
| OPHN1oligophrenin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| OTCornithine transcarbamylase | Noen ganger (5–29 %) | I 1 tilstand |
| PACS2phosphofurin acidic cluster sorting protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Noen ganger (5–29 %) | I 1 tilstand |
| PCGF2polycomb group ring finger 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PCNTpericentrin | Noen ganger (5–29 %) | I 1 tilstand |
| PDGFRBplatelet derived growth factor receptor beta | Noen ganger (5–29 %) | I 1 tilstand |
| PLAG1PLAG1 zinc finger | Noen ganger (5–29 %) | I 1 tilstand |
| PPM1Dprotein phosphatase, Mg2+/Mn2+ dependent 1D | Noen ganger (5–29 %) | I 1 tilstand |
| PPP1R12Aprotein phosphatase 1 regulatory subunit 12A | Noen ganger (5–29 %) | I 1 tilstand |
| PPP2CAprotein phosphatase 2 catalytic subunit alpha | Noen ganger (5–29 %) | I 1 tilstand |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Noen ganger (5–29 %) | I 1 tilstand |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Noen ganger (5–29 %) | I 1 tilstand |
| REREarginine-glutamic acid dipeptide repeats | Noen ganger (5–29 %) | I 2 tilstander |
| RPS6KC1ribosomal protein S6 kinase C1 | Noen ganger (5–29 %) | I 1 tilstand |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Noen ganger (5–29 %) | I 2 tilstander |
| SETBP1SET binding protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SGSM3small G protein signaling modulator 3 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC13A5solute carrier family 13 member 5 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC1A2solute carrier family 1 member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC38A3solute carrier family 38 member 3 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC6A11solute carrier family 6 member 11 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC7A6OSsolute carrier family 7 member 6 opposite strand | Noen ganger (5–29 %) | I 1 tilstand |
| SLC9A7solute carrier family 9 member A7 | Noen ganger (5–29 %) | I 1 tilstand |
| SLF2SMC5/6 complex localization factor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SMC5structural maintenance of chromosomes 5 | Noen ganger (5–29 %) | I 1 tilstand |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Noen ganger (5–29 %) | I 1 tilstand |
| SOX5SRY-box transcription factor 5 | Noen ganger (5–29 %) | I 1 tilstand |
| SPENspen family transcriptional repressor | Noen ganger (5–29 %) | I 1 tilstand |
| SPRED1sprouty related EVH1 domain containing 1 | Noen ganger (5–29 %) | I 2 tilstander |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SRCAPSnf2 related CREBBP activator protein | Noen ganger (5–29 %) | I 1 tilstand |
| SRPX2sushi repeat containing protein X-linked 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SRRM2serine/arginine repetitive matrix 2 | Noen ganger (5–29 %) | I 1 tilstand |
| STEEP1STING1 ER exit protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SYNJ1synaptojanin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SZT2SZT2 subunit of KICSTOR complex | Noen ganger (5–29 %) | I 1 tilstand |
| TAF1TATA-box binding protein associated factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TANC2tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TAOK1TAO kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TBC1D23TBC1 domain family member 23 | Noen ganger (5–29 %) | I 1 tilstand |
| TBX2T-box transcription factor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TMCO1transmembrane and coiled-coil domains 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TMEM67transmembrane protein 67 | Noen ganger (5–29 %) | I 1 tilstand |
| TNIKTRAF2 and NCK interacting kinase | Noen ganger (5–29 %) | I 1 tilstand |
| TRAK1trafficking kinesin protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TSC1TSC complex subunit 1 | Noen ganger (5–29 %) | I 2 tilstander |
| TSC2TSC complex subunit 2 | Noen ganger (5–29 %) | I 2 tilstander |
| TSHBthyroid stimulating hormone subunit beta | Noen ganger (5–29 %) | I 1 tilstand |
| UBA5ubiquitin like modifier activating enzyme 5 | Noen ganger (5–29 %) | I 1 tilstand |
| UFSP2UFM1 specific peptidase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| WBP11WW domain binding protein 11 | Noen ganger (5–29 %) | I 1 tilstand |
| WDR83OSWD repeat domain 83 opposite strand | Noen ganger (5–29 %) | I 1 tilstand |
| YME1L1YME1 like 1 ATPase | Noen ganger (5–29 %) | I 1 tilstand |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Noen ganger (5–29 %) | I 2 tilstander |
| YY1YY1 transcription factor | Noen ganger (5–29 %) | I 2 tilstander |
| ZMYM2zinc finger MYM-type containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| APC2APC regulator of Wnt signaling pathway 2 | Sjelden (1–4%) | I 1 tilstand |
| CABP4calcium binding protein 4 | Sjelden (1–4%) | I 1 tilstand |
| CHRNA2cholinergic receptor nicotinic alpha 2 subunit | Sjelden (1–4%) | I 1 tilstand |
| CHRNA4cholinergic receptor nicotinic alpha 4 subunit | Sjelden (1–4%) | I 1 tilstand |
| CHRNB2cholinergic receptor nicotinic beta 2 subunit | Sjelden (1–4%) | I 1 tilstand |
| CRHcorticotropin releasing hormone | Sjelden (1–4%) | I 1 tilstand |
| HEPACAMhepatic and glial cell adhesion molecule | Sjelden (1–4%) | I 1 tilstand |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Sjelden (1–4%) | I 1 tilstand |
| NAA15N-alpha-acetyltransferase 15, NatA auxiliary subunit | Sjelden (1–4%) | I 1 tilstand |
| NOP56NOP56 ribonucleoprotein | Sjelden (1–4%) | I 1 tilstand |
| PTENphosphatase and tensin homolog | Sjelden (1–4%) | I 1 tilstand |
| SMPD1sphingomyelin phosphodiesterase 1 | Sjelden (1–4%) | I 1 tilstand |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Sjelden (1–4%) | I 1 tilstand |
| ABCD1ATP binding cassette subfamily D member 1 | Ikke registrert | I 1 tilstand |
| ASPMassembly factor for spindle microtubules | Ikke registrert | I 1 tilstand |
| DRD4dopamine receptor D4 | Ikke registrert | I 1 tilstand |
| DRD5dopamine receptor D5 | Ikke registrert | I 1 tilstand |
| HDChistidine decarboxylase | Ikke registrert | I 1 tilstand |
| KIF11kinesin family member 11 | Ikke registrert | I 1 tilstand |
| NKAPNFKB activating protein | Ikke registrert | I 1 tilstand |
| NLGN1neuroligin 1 | Ikke registrert | I 1 tilstand |
| PAHphenylalanine hydroxylase | Ikke registrert | I 1 tilstand |
| PRKCGprotein kinase C gamma | Ikke registrert | I 1 tilstand |
| PTCHD1patched domain containing 1 | Ikke registrert | I 1 tilstand |
| SIN3ASIN3 transcription regulator family member A | Ikke registrert | I 1 tilstand |
| SLC6A8solute carrier family 6 member 8 | Ikke registrert | I 1 tilstand |
| SLITRK1SLIT and NTRK like family member 1 | Ikke registrert | I 1 tilstand |
| TBL1Xtransducin beta like 1 X-linked | Ikke registrert | I 1 tilstand |
| TLK2tousled like kinase 2 | Ikke registrert | I 1 tilstand |
| TNPO2transportin 2 | Ikke registrert | I 1 tilstand |
| ZMIZ1zinc finger MIZ-type containing 1 | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
Bredere egenskaper
Slik er informasjonen samlet
- Human Phenotype Ontology, versjon 2026-09-01: egenskapen, navnene på den, definisjonen og genene som er knyttet til den. Les mer på hpo.jax.org.
- Datautgave 2026.10.16-c6eea6bf.
Én test. En livstid med svar.
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