Egenskap
Difficulty sleeping
Klinisk navn: Sleep disturbance
An abnormal pattern in the quality, quantity, or characteristics of sleep.
Sammendrag
- Også kalt
- Trouble sleeping, Sleep abnormality, Sleep disturbances, Sleep dysfunction, Sleep-wake disturbance
- Kroppssystem
- Abnormality of the nervous system
ReferansegenomGRCh38hg38
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Endringer i disse genene forårsaker sjeldne tilstander der Difficulty sleeping 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 |
|---|---|---|
| ACBD6acyl-CoA binding domain containing 6 | Alltid | I 1 tilstand |
| AHDC1AT-hook DNA binding motif containing 1 | Alltid | I 1 tilstand |
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Alltid | I 1 tilstand |
| ANK3ankyrin 3 | Alltid | I 2 tilstander |
| BAIAP2BAR/IMD domain containing adaptor protein 2 | Alltid | I 1 tilstand |
| CHD8chromodomain helicase DNA binding protein 8 | Alltid | I 2 tilstander |
| DEAF1DEAF1 transcription factor | Alltid | I 3 tilstander |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Alltid | I 1 tilstand |
| EMC10ER membrane protein complex subunit 10 | Alltid | I 1 tilstand |
| FDXRferredoxin reductase | Alltid | I 1 tilstand |
| FRYLFRY like transcription coactivator | Alltid | I 1 tilstand |
| GNSglucosamine (N-acetyl)-6-sulfatase | Alltid | I 1 tilstand |
| GRIA1glutamate ionotropic receptor AMPA type subunit 1 | Alltid | I 2 tilstander |
| HNRNPCheterogeneous nuclear ribonucleoprotein C | Alltid | I 1 tilstand |
| HTThuntingtin | Alltid | I 1 tilstand |
| JKAMPJNK1/MAPK8 associated membrane protein | Alltid | I 1 tilstand |
| LIASlipoic acid synthetase | Alltid | I 1 tilstand |
| MED16mediator complex subunit 16 | Alltid | I 1 tilstand |
| MED23mediator complex subunit 23 | Alltid | I 1 tilstand |
| SATB2SATB homeobox 2 | Alltid | I 3 tilstander |
| SLC18A2solute carrier family 18 member A2 | Alltid | I 2 tilstander |
| SLC32A1solute carrier family 32 member 1 | Alltid | I 2 tilstander |
| TFE3transcription factor binding to IGHM enhancer 3 | Alltid | I 1 tilstand |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Alltid | I 1 tilstand |
| UQCC3ubiquinol-cytochrome c reductase complex assembly factor 3 | Alltid | I 1 tilstand |
| VPS4Avacuolar protein sorting 4 homolog A | Alltid | I 1 tilstand |
| VRK1VRK serine/threonine kinase 1 | Alltid | I 1 tilstand |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Alltid | I 1 tilstand |
| YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | Alltid | I 1 tilstand |
| ZMYM3zinc finger MYM-type containing 3 | Alltid | I 1 tilstand |
| ATP9AATPase phospholipid transporting 9A | Svært ofte (80–99 %) | I 1 tilstand |
| CDKL5cyclin dependent kinase like 5 | Svært ofte (80–99 %) | I 2 tilstander |
| CTSHcathepsin H | Svært ofte (80–99 %) | I 1 tilstand |
| DCTN1dynactin subunit 1 | Svært ofte (80–99 %) | I 3 tilstander |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Svært ofte (80–99 %) | I 2 tilstander |
| HCRThypocretin neuropeptide precursor | Svært ofte (80–99 %) | I 2 tilstander |
| HLA-DQB1major histocompatibility complex, class II, DQ beta 1 | Svært ofte (80–99 %) | I 2 tilstander |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Svært ofte (80–99 %) | I 2 tilstander |
| MECP2methyl-CpG binding protein 2 | Svært ofte (80–99 %) | I 5 tilstander |
| MOGmyelin oligodendrocyte glycoprotein | Svært ofte (80–99 %) | I 1 tilstand |
Vis 303 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| NAGLUN-acetyl-alpha-glucosaminidase | Svært ofte (80–99 %) | I 2 tilstander |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Svært ofte (80–99 %) | I 2 tilstander |
| NTNG1netrin G1 | Svært ofte (80–99 %) | I 1 tilstand |
| P2RY11purinergic receptor P2Y11 | Svært ofte (80–99 %) | I 1 tilstand |
| PRNPprion protein (Kanno blood group) | Svært ofte (80–99 %) | I 2 tilstander |
| RAI1retinoic acid induced 1 | Svært ofte (80–99 %) | I 4 tilstander |
| RNU2-2RNA, U2 small nuclear 2 | Svært ofte (80–99 %) | I 1 tilstand |
| SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | Svært ofte (80–99 %) | I 2 tilstander |
| SGSHN-sulfoglucosamine sulfohydrolase | Svært ofte (80–99 %) | I 1 tilstand |
| SMC1Astructural maintenance of chromosomes 1A | Svært ofte (80–99 %) | I 2 tilstander |
| TCF4transcription factor 4 | Svært ofte (80–99 %) | I 1 tilstand |
| TNFSF4TNF superfamily member 4 | Svært ofte (80–99 %) | I 1 tilstand |
| TSEN15tRNA splicing endonuclease subunit 15 | Svært ofte (80–99 %) | I 1 tilstand |
| TSEN2tRNA splicing endonuclease subunit 2 | Svært ofte (80–99 %) | I 1 tilstand |
| TSEN34tRNA splicing endonuclease subunit 34 | Svært ofte (80–99 %) | I 1 tilstand |
| TSEN54tRNA splicing endonuclease subunit 54 | Svært ofte (80–99 %) | I 1 tilstand |
| ZNF365zinc finger protein 365 | Svært ofte (80–99 %) | I 2 tilstander |
| ADGRL1adhesion G protein-coupled receptor L1 | Ofte (30–79 %) | I 1 tilstand |
| ADGRV1adhesion G protein-coupled receptor V1 | Ofte (30–79 %) | I 1 tilstand |
| AGO1argonaute RISC component 1 | Ofte (30–79 %) | I 1 tilstand |
| ALDH4A1aldehyde dehydrogenase 4 family member A1 | Ofte (30–79 %) | I 1 tilstand |
| ARXaristaless related homeobox | Ofte (30–79 %) | I 1 tilstand |
| ASH1LASH1 like histone lysine methyltransferase | Ofte (30–79 %) | I 1 tilstand |
| ASPAaspartoacylase | Ofte (30–79 %) | I 1 tilstand |
| ASXL1ASXL transcriptional regulator 1 | Ofte (30–79 %) | I 1 tilstand |
| ATAD1ATPase family AAA domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| ATRXATRX chromatin remodeler | Ofte (30–79 %) | I 1 tilstand |
| BCL11ABCL11 transcription factor A | Ofte (30–79 %) | I 1 tilstand |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Ofte (30–79 %) | I 1 tilstand |
| BRD4bromodomain containing 4 | Ofte (30–79 %) | I 1 tilstand |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Ofte (30–79 %) | I 1 tilstand |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Ofte (30–79 %) | I 1 tilstand |
| CASKcalcium/calmodulin dependent serine protein kinase | Ofte (30–79 %) | I 2 tilstander |
| CD4CD4 molecule | Ofte (30–79 %) | I 1 tilstand |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Ofte (30–79 %) | I 1 tilstand |
| CPLX1complexin 1 | Ofte (30–79 %) | I 1 tilstand |
| CSNK2A1casein kinase 2 alpha 1 | Ofte (30–79 %) | I 1 tilstand |
| CTBP1C-terminal binding protein 1 | Ofte (30–79 %) | I 1 tilstand |
| CTNNB1catenin beta 1 | Ofte (30–79 %) | I 2 tilstander |
| DBHdopamine beta-hydroxylase | Ofte (30–79 %) | I 1 tilstand |
| DDCdopa decarboxylase | Ofte (30–79 %) | I 2 tilstander |
| DHCR77-dehydrocholesterol reductase | Ofte (30–79 %) | I 1 tilstand |
| DHX30DExH-box helicase 30 | Ofte (30–79 %) | I 1 tilstand |
| DMXL2Dmx like 2 | Ofte (30–79 %) | I 1 tilstand |
| EHMT1euchromatic histone lysine methyltransferase 1 | Ofte (30–79 %) | I 2 tilstander |
| FBXO11F-box protein 11 | Ofte (30–79 %) | I 1 tilstand |
| FBXO7F-box protein 7 | Ofte (30–79 %) | I 1 tilstand |
| FMR1fragile X messenger ribonucleoprotein 1 | Ofte (30–79 %) | I 1 tilstand |
| FOXG1forkhead box G1 | Ofte (30–79 %) | I 1 tilstand |
| FRA10AC1FRA10A associated CGG repeat 1 | Ofte (30–79 %) | I 1 tilstand |
| GABBR1gamma-aminobutyric acid type B receptor subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| GCH1GTP cyclohydrolase 1 | Ofte (30–79 %) | I 1 tilstand |
| GLRA1glycine receptor alpha 1 | Ofte (30–79 %) | I 1 tilstand |
| GLRBglycine receptor beta | Ofte (30–79 %) | I 1 tilstand |
| GNAO1G protein subunit alpha o1 | Ofte (30–79 %) | I 1 tilstand |
| GPHNgephyrin | Ofte (30–79 %) | I 1 tilstand |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Ofte (30–79 %) | I 2 tilstander |
| GRM7glutamate metabotropic receptor 7 | Ofte (30–79 %) | I 1 tilstand |
| HDAC4histone deacetylase 4 | Ofte (30–79 %) | I 3 tilstander |
| 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 |
| HIBCH3-hydroxyisobutyryl-CoA hydrolase | Ofte (30–79 %) | I 1 tilstand |
| IDUAalpha-L-iduronidase | Ofte (30–79 %) | I 1 tilstand |
| IFNGinterferon gamma | Ofte (30–79 %) | I 1 tilstand |
| IMPDH2inosine monophosphate dehydrogenase 2 | Ofte (30–79 %) | I 1 tilstand |
| IRF4interferon regulatory factor 4 | Ofte (30–79 %) | I 1 tilstand |
| KAT5lysine acetyltransferase 5 | Ofte (30–79 %) | I 1 tilstand |
| KAT6Alysine acetyltransferase 6A | Ofte (30–79 %) | I 1 tilstand |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Ofte (30–79 %) | I 1 tilstand |
| KMT2Alysine methyltransferase 2A | Ofte (30–79 %) | I 1 tilstand |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Ofte (30–79 %) | I 1 tilstand |
| LGI1leucine rich glioma inactivated 1 | Ofte (30–79 %) | I 1 tilstand |
| MAGEL2MAGE family member L2 | Ofte (30–79 %) | I 4 tilstander |
| MAU2MAU2 sister chromatid cohesion factor | Ofte (30–79 %) | I 1 tilstand |
| MBD5methyl-CpG binding domain protein 5 | Ofte (30–79 %) | I 1 tilstand |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Ofte (30–79 %) | I 1 tilstand |
| MED12Lmediator complex subunit 12L | Ofte (30–79 %) | I 1 tilstand |
| MEFVMEFV innate immunity regulator, pyrin | Ofte (30–79 %) | I 1 tilstand |
| MKRN3makorin ring finger protein 3 | Ofte (30–79 %) | I 1 tilstand |
| MYO7Amyosin VIIA | Ofte (30–79 %) | I 1 tilstand |
| MYT1Lmyelin transcription factor 1 like | Ofte (30–79 %) | I 1 tilstand |
| NACC1nucleus accumbens associated 1 | Ofte (30–79 %) | I 2 tilstander |
| NDNnecdin, MAGE family member | Ofte (30–79 %) | I 3 tilstander |
| NDST1N-deacetylase and N-sulfotransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| NELFAnegative elongation factor complex member A | Ofte (30–79 %) | I 1 tilstand |
| NEUROD2neuronal differentiation 2 | Ofte (30–79 %) | I 1 tilstand |
| NF1neurofibromin 1 | Ofte (30–79 %) | I 1 tilstand |
| NIPBLNIPBL cohesin loading factor | Ofte (30–79 %) | I 1 tilstand |
| NPAP1nuclear pore associated protein 1 | Ofte (30–79 %) | I 1 tilstand |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Ofte (30–79 %) | I 2 tilstander |
| NSD2nuclear receptor binding SET domain protein 2 | Ofte (30–79 %) | I 1 tilstand |
| NSUN6NOP2/Sun RNA methyltransferase 6 | Ofte (30–79 %) | I 1 tilstand |
| OCA2OCA2 melanosomal transmembrane protein | Ofte (30–79 %) | I 3 tilstander |
| P4HTMprolyl 4-hydroxylase, transmembrane | Ofte (30–79 %) | I 1 tilstand |
| PDZD7PDZ domain containing 7 | Ofte (30–79 %) | I 1 tilstand |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Ofte (30–79 %) | I 1 tilstand |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Ofte (30–79 %) | I 1 tilstand |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Ofte (30–79 %) | I 1 tilstand |
| PNKPpolynucleotide kinase 3'-phosphatase | Ofte (30–79 %) | I 1 tilstand |
| POGZpogo transposable element derived with ZNF domain | Ofte (30–79 %) | I 2 tilstander |
| POLR2ARNA polymerase II subunit A | Ofte (30–79 %) | I 1 tilstand |
| POU3F3POU class 3 homeobox 3 | 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 |
| RFX7regulatory factor X7 | Ofte (30–79 %) | I 1 tilstand |
| RHOBTB2Rho related BTB domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| RIC1RIC1 partner of RAB6A GEF complex | Ofte (30–79 %) | I 1 tilstand |
| RNU5B-1RNA, U5B small nuclear 1 | Ofte (30–79 %) | I 1 tilstand |
| SATB1SATB homeobox 1 | Ofte (30–79 %) | I 2 tilstander |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| SETD1ASET domain containing 1A, histone lysine methyltransferase | Ofte (30–79 %) | I 1 tilstand |
| SIK1salt inducible kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| SLC16A2solute carrier family 16 member 2 | Ofte (30–79 %) | I 1 tilstand |
| SLC25A13solute carrier family 25 member 13 | Ofte (30–79 %) | I 1 tilstand |
| SLC25A22solute carrier family 25 member 22 | Ofte (30–79 %) | I 1 tilstand |
| SLC35C1solute carrier family 35 member C1 | Ofte (30–79 %) | I 1 tilstand |
| SLC6A5solute carrier family 6 member 5 | Ofte (30–79 %) | I 1 tilstand |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Ofte (30–79 %) | I 1 tilstand |
| SMC3structural maintenance of chromosomes 3 | Ofte (30–79 %) | I 1 tilstand |
| SNCAsynuclein alpha | Ofte (30–79 %) | I 3 tilstander |
| 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 |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Ofte (30–79 %) | I 3 tilstander |
| SPRsepiapterin reductase | Ofte (30–79 %) | I 2 tilstander |
| SPTBN1spectrin beta, non-erythrocytic 1 | Ofte (30–79 %) | I 1 tilstand |
| SPTSSAserine palmitoyltransferase small subunit A | Ofte (30–79 %) | I 1 tilstand |
| STAG2STAG2 cohesin complex component | Ofte (30–79 %) | I 1 tilstand |
| SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit | Ofte (30–79 %) | I 2 tilstander |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Ofte (30–79 %) | I 1 tilstand |
| SYT1synaptotagmin 1 | Ofte (30–79 %) | I 1 tilstand |
| TANC2tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 | Ofte (30–79 %) | I 1 tilstand |
| TBC1D20TBC1 domain family member 20 | Ofte (30–79 %) | I 1 tilstand |
| TELO2telomere maintenance 2 | Ofte (30–79 %) | I 1 tilstand |
| TRA2Btransformer 2 beta homolog | Ofte (30–79 %) | I 1 tilstand |
| TRIM8tripartite motif containing 8 | Ofte (30–79 %) | I 1 tilstand |
| TSC1TSC complex subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| TSC2TSC complex subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| TSHRthyroid stimulating hormone receptor | Ofte (30–79 %) | I 2 tilstander |
| TTI2TELO2 interacting protein 2 | Ofte (30–79 %) | I 2 tilstander |
| UBE3Cubiquitin protein ligase E3C | Ofte (30–79 %) | I 1 tilstand |
| USH2Ausherin | Ofte (30–79 %) | I 1 tilstand |
| WACWW domain containing adaptor with coiled-coil | Ofte (30–79 %) | I 3 tilstander |
| WDR45WD repeat domain 45 | Ofte (30–79 %) | I 1 tilstand |
| WDR73WD repeat domain 73 | Ofte (30–79 %) | I 1 tilstand |
| WHRNwhirlin | Ofte (30–79 %) | I 1 tilstand |
| ZEB2zinc finger E-box binding homeobox 2 | Ofte (30–79 %) | I 2 tilstander |
| ACTA1actin alpha 1, skeletal muscle | Noen ganger (5–29 %) | I 1 tilstand |
| ADNPactivity dependent neuroprotector homeobox | Noen ganger (5–29 %) | I 1 tilstand |
| AGAaspartylglucosaminidase | Noen ganger (5–29 %) | I 1 tilstand |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ANGangiogenin | Noen ganger (5–29 %) | I 1 tilstand |
| ANXA11annexin A11 | Noen ganger (5–29 %) | I 1 tilstand |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ARNT2aryl hydrocarbon receptor nuclear translocator 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ASXL3ASXL transcriptional regulator 3 | Noen ganger (5–29 %) | I 1 tilstand |
| ATAD3AATPase family AAA domain containing 3A | Noen ganger (5–29 %) | I 1 tilstand |
| ATXN10ataxin 10 | Noen ganger (5–29 %) | I 1 tilstand |
| ATXN2ataxin 2 | Noen ganger (5–29 %) | I 2 tilstander |
| ATXN3ataxin 3 | Noen ganger (5–29 %) | I 4 tilstander |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Noen ganger (5–29 %) | I 1 tilstand |
| CACHD1cache domain containing 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CAMK2Bcalcium/calmodulin dependent protein kinase II beta | Noen ganger (5–29 %) | I 1 tilstand |
| CARS1cysteinyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CCNFcyclin F | Noen ganger (5–29 %) | I 1 tilstand |
| CFAP410cilia and flagella associated protein 410 | Noen ganger (5–29 %) | I 1 tilstand |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Noen ganger (5–29 %) | I 1 tilstand |
| CHKAcholine kinase alpha | Noen ganger (5–29 %) | I 1 tilstand |
| CHMP2Bcharged multivesicular body protein 2B | Noen ganger (5–29 %) | I 1 tilstand |
| CICcapicua transcriptional repressor | Noen ganger (5–29 %) | I 1 tilstand |
| CISD2CDGSH iron sulfur domain 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CNBPCCHC-type zinc finger nucleic acid binding protein | Noen ganger (5–29 %) | I 1 tilstand |
| CTCFCCCTC-binding factor | Noen ganger (5–29 %) | I 2 tilstander |
| DAOD-amino acid oxidase | Noen ganger (5–29 %) | I 1 tilstand |
| DMPKDM1 protein kinase | Noen ganger (5–29 %) | I 1 tilstand |
| DNAJC13DnaJ heat shock protein family (Hsp40) member C13 | Noen ganger (5–29 %) | I 1 tilstand |
| DPH5diphthamide biosynthesis 5 | 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 |
| EIF3Feukaryotic translation initiation factor 3 subunit F | Noen ganger (5–29 %) | I 1 tilstand |
| EIF4G1eukaryotic translation initiation factor 4 gamma 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ELNelastin | Noen ganger (5–29 %) | I 1 tilstand |
| EPG5ectopic P-granules 5 autophagy tethering factor | Noen ganger (5–29 %) | I 1 tilstand |
| EPM2AEPM2A glucan phosphatase, laforin | Noen ganger (5–29 %) | I 1 tilstand |
| ERBB4erb-b2 receptor tyrosine kinase 4 | Noen ganger (5–29 %) | I 1 tilstand |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Noen ganger (5–29 %) | I 1 tilstand |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Noen ganger (5–29 %) | I 1 tilstand |
| FGFR1fibroblast growth factor receptor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| FIG4FIG4 phosphoinositide 5-phosphatase | Noen ganger (5–29 %) | I 1 tilstand |
| FUSFUS RNA binding protein | Noen ganger (5–29 %) | I 1 tilstand |
| GABRB3gamma-aminobutyric acid type A receptor subunit beta3 | Noen ganger (5–29 %) | I 1 tilstand |
| GATAD2BGATA zinc finger domain containing 2B | Noen ganger (5–29 %) | I 1 tilstand |
| GBA1glucosylceramidase beta 1 | Noen ganger (5–29 %) | I 2 tilstander |
| GFAPglial fibrillary acidic protein | Noen ganger (5–29 %) | I 1 tilstand |
| GIGYF2GRB10 interacting GYF protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| GLE1GLE1 RNA export mediator | Noen ganger (5–29 %) | I 1 tilstand |
| GLT8D1glycosyltransferase 8 domain containing 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GNAQG protein subunit alpha q | Noen ganger (5–29 %) | I 1 tilstand |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Noen ganger (5–29 %) | I 1 tilstand |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Noen ganger (5–29 %) | I 1 tilstand |
| H4C5H4 clustered histone 5 | Noen ganger (5–29 %) | I 1 tilstand |
| HACD13-hydroxyacyl-CoA dehydratase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| HESX1HESX homeobox 1 | Noen ganger (5–29 %) | I 1 tilstand |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Noen ganger (5–29 %) | I 1 tilstand |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| IL12Ainterleukin 12A | Noen ganger (5–29 %) | I 1 tilstand |
| IL12RB1interleukin 12 receptor subunit beta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| IRF5interferon regulatory factor 5 | Noen ganger (5–29 %) | I 1 tilstand |
| ITGA7integrin subunit alpha 7 | Noen ganger (5–29 %) | I 1 tilstand |
| KDM6Blysine demethylase 6B | Noen ganger (5–29 %) | I 1 tilstand |
| KICS2KICSTOR subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| KIF11kinesin family member 11 | Noen ganger (5–29 %) | I 1 tilstand |
| LARP7La ribonucleoprotein 7, transcriptional regulator | Noen ganger (5–29 %) | I 1 tilstand |
| LRP12LDL receptor related protein 12 | Noen ganger (5–29 %) | I 1 tilstand |
| LRRC7leucine rich repeat containing 7 | Noen ganger (5–29 %) | I 1 tilstand |
| LRRK2leucine rich repeat kinase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Noen ganger (5–29 %) | I 1 tilstand |
| MARK2microtubule affinity regulating kinase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MATR3matrin 3 | Noen ganger (5–29 %) | I 1 tilstand |
| MLXIPLMLX interacting protein like | Noen ganger (5–29 %) | I 1 tilstand |
| MMEL1membrane metalloendopeptidase like 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MYL2myosin light chain 2 | Noen ganger (5–29 %) | I 1 tilstand |
| NDPnorrin cystine knot growth factor NDP | Noen ganger (5–29 %) | I 1 tilstand |
| NEFHneurofilament heavy chain | Noen ganger (5–29 %) | I 1 tilstand |
| NEK1NIMA related kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NHLRC1NHL repeat containing E3 ubiquitin protein ligase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NKX2-1NK2 homeobox 1 | Noen ganger (5–29 %) | I 2 tilstander |
| OPTNoptineurin | Noen ganger (5–29 %) | I 1 tilstand |
| OTX2orthodenticle homeobox 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PFN1profilin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PHEXphosphate regulating endopeptidase X-linked | Noen ganger (5–29 %) | I 1 tilstand |
| PHIPPHIP subunit of CUL4-Ring ligase complex | Noen ganger (5–29 %) | I 1 tilstand |
| PHKA2phosphorylase kinase regulatory subunit alpha 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PHKG2phosphorylase kinase catalytic subunit gamma 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PIDD1p53-induced death domain protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Noen ganger (5–29 %) | I 1 tilstand |
| POU2AF1POU class 2 homeobox associating factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PROKR2prokineticin receptor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PRPHperipherin | Noen ganger (5–29 %) | I 1 tilstand |
| PUF60poly(U) binding splicing factor 60 | Noen ganger (5–29 %) | I 1 tilstand |
| PYGLglycogen phosphorylase L | Noen ganger (5–29 %) | I 1 tilstand |
| RAC1Rac family small GTPase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| RNU4-2RNA, U4 small nuclear 2 | Noen ganger (5–29 %) | I 1 tilstand |
| RNU7-1RNA, U7 small nuclear 1 | Noen ganger (5–29 %) | I 1 tilstand |
| RTTNrotatin | Noen ganger (5–29 %) | I 1 tilstand |
| SARDHsarcosine dehydrogenase | Noen ganger (5–29 %) | I 1 tilstand |
| SELENONselenoprotein N | Noen ganger (5–29 %) | I 1 tilstand |
| SEPTIN9septin 9 | Noen ganger (5–29 %) | I 1 tilstand |
| SETBP1SET binding protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC2A1solute carrier family 2 member 1 | Noen ganger (5–29 %) | I 2 tilstander |
| SLC9A6solute carrier family 9 member A6 | Noen ganger (5–29 %) | I 2 tilstander |
| SMPD1sphingomyelin phosphodiesterase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SOD1superoxide dismutase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SOX2SRY-box transcription factor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SOX3SRY-box transcription factor 3 | Noen ganger (5–29 %) | I 1 tilstand |
| SPARTspartin | Noen ganger (5–29 %) | I 1 tilstand |
| SPIBSpi-B transcription factor | Noen ganger (5–29 %) | I 1 tilstand |
| SQSTM1sequestosome 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Noen ganger (5–29 %) | I 1 tilstand |
| TAF15TATA-box binding protein associated factor 15 | Noen ganger (5–29 %) | I 1 tilstand |
| TARDBPTAR DNA binding protein | Noen ganger (5–29 %) | I 1 tilstand |
| TBK1TANK binding kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TFAP2Btranscription factor AP-2 beta | Noen ganger (5–29 %) | I 1 tilstand |
| TNFSF15TNF superfamily member 15 | Noen ganger (5–29 %) | I 1 tilstand |
| TNPO3transportin 3 | Noen ganger (5–29 %) | I 1 tilstand |
| TNRC6Btrinucleotide repeat containing adaptor 6B | Noen ganger (5–29 %) | I 1 tilstand |
| TPM2tropomyosin 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TPM3tropomyosin 3 | Noen ganger (5–29 %) | I 1 tilstand |
| TREM2triggering receptor expressed on myeloid cells 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TRIOtrio Rho guanine nucleotide exchange factor | Noen ganger (5–29 %) | I 1 tilstand |
| TTC5tetratricopeptide repeat domain 5 | Noen ganger (5–29 %) | I 1 tilstand |
| UBQLN2ubiquilin 2 | Noen ganger (5–29 %) | I 1 tilstand |
| UNC13Aunc-13 homolog A | Noen ganger (5–29 %) | I 1 tilstand |
| USP7ubiquitin specific peptidase 7 | Noen ganger (5–29 %) | I 1 tilstand |
| VAPBVAMP associated protein B and C | Noen ganger (5–29 %) | I 1 tilstand |
| VCPvalosin containing protein | Noen ganger (5–29 %) | I 1 tilstand |
| VPS35VPS35 retromer complex component | Noen ganger (5–29 %) | I 1 tilstand |
| WFS1wolframin ER transmembrane glycoprotein | Noen ganger (5–29 %) | I 1 tilstand |
| YY1YY1 transcription factor | Noen ganger (5–29 %) | I 1 tilstand |
| ALMS1ALMS1 centrosome and basal body associated protein | Sjelden (1–4%) | I 1 tilstand |
| CORINcorin, serine peptidase | Sjelden (1–4%) | I 1 tilstand |
| FLT1fms related receptor tyrosine kinase 1 | Sjelden (1–4%) | I 1 tilstand |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Sjelden (1–4%) | I 1 tilstand |
| STOX1storkhead box 1 | Sjelden (1–4%) | I 1 tilstand |
| VPS13Avacuolar protein sorting 13 homolog A | Sjelden (1–4%) | I 1 tilstand |
| ADH1Calcohol dehydrogenase 1C (class I), gamma polypeptide | Ikke registrert | I 1 tilstand |
| ATXN8OSATXN8 opposite strand lncRNA | Ikke registrert | I 1 tilstand |
| EML1EMAP like 1 | Ikke registrert | I 1 tilstand |
| FLCNfolliculin | Ikke registrert | I 1 tilstand |
| HDChistidine decarboxylase | Ikke registrert | I 1 tilstand |
| MAPTmicrotubule associated protein tau | Ikke registrert | I 1 tilstand |
| MFSD8major facilitator superfamily domain containing 8 | Ikke registrert | I 1 tilstand |
| MT-TTmitochondrially encoded tRNA-Thr (ACN) | Ikke registrert | I 1 tilstand |
| PPT1palmitoyl-protein thioesterase 1 | Ikke registrert | I 1 tilstand |
| SIN3ASIN3 transcription regulator family member A | Ikke registrert | I 1 tilstand |
| SLITRK1SLIT and NTRK like family member 1 | Ikke registrert | I 1 tilstand |
| SNCAIPsynuclein alpha interacting protein | Ikke registrert | I 1 tilstand |
| TBPTATA-box binding protein | Ikke registrert | I 1 tilstand |
| TCF20transcription factor 20 | 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.
Smalere egenskaper
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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