Træk
Close sighted
Klinisk navn: Myopia
An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.
Resumé
- Også kaldet
- Near sighted, Near sightedness, Nearsightedness
- Kropssystem
- Abnormality of the eye
ReferencegenomGRCh38hg38
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Bestil min Genome Test409 gener knyttet til Close sighted
Ændringer i disse gener forårsager sjældne tilstande, hvor Close sighted 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 |
|---|---|---|
| ADAMTS18ADAM metallopeptidase with thrombospondin type 1 motif 18 | Altid | I 1 tilstand |
| B3GALT6beta-1,3-galactosyltransferase 6 | Altid | I 2 tilstande |
| CACNA1Fcalcium voltage-gated channel subunit alpha1 F | Altid | I 3 tilstande |
| CAMK2Gcalcium/calmodulin dependent protein kinase II gamma | Altid | I 1 tilstand |
| COL11A1collagen type XI alpha 1 chain | Altid | I 4 tilstande |
| COL2A1collagen type II alpha 1 chain | Altid | I 14 tilstande |
| COL9A1collagen type IX alpha 1 chain | Altid | I 2 tilstande |
| COPZ1coat protein complex I subunit zeta 1 | Altid | I 1 tilstand |
| CRNKL1crooked neck pre-mRNA splicing factor 1 | Altid | I 1 tilstand |
| EEDembryonic ectoderm development | Altid | I 1 tilstand |
| ERI1exoribonuclease 1 | Altid | I 1 tilstand |
| EXOSC2exosome component 2 | Altid | I 1 tilstand |
| GNPTGN-acetylglucosamine-1-phosphate transferase subunit gamma | Altid | I 1 tilstand |
| IFT27intraflagellar transport 27 | Altid | I 1 tilstand |
| INTS11integrator complex subunit 11 | Altid | I 1 tilstand |
| KDM2Blysine demethylase 2B | Altid | I 1 tilstand |
| KDM6Blysine demethylase 6B | Altid | I 1 tilstand |
| LRRC32leucine rich repeat containing 32 | Altid | I 1 tilstand |
| MAP2K2mitogen-activated protein kinase kinase 2 | Altid | I 3 tilstande |
| MSL2MSL complex subunit 2 | Altid | I 1 tilstand |
| NHEJ1non-homologous end joining factor 1 | Altid | I 1 tilstand |
| NOS3nitric oxide synthase 3 | Altid | I 1 tilstand |
| NR6A1nuclear receptor subfamily 6 group A member 1 | Altid | I 1 tilstand |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Altid | I 1 tilstand |
| PEX11Bperoxisomal biogenesis factor 11 beta | Altid | I 1 tilstand |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Altid | I 1 tilstand |
| PLOD3procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | Altid | I 1 tilstand |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Altid | I 4 tilstande |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Altid | I 2 tilstande |
| RFC4replication factor C subunit 4 | Altid | I 1 tilstand |
| RP2RP2 activator of ARL3 GTPase | Altid | I 1 tilstand |
| RPGRIP1RPGR interacting protein 1 | Altid | I 2 tilstande |
| SPTSSAserine palmitoyltransferase small subunit A | Altid | I 1 tilstand |
| TBC1D7TBC1 domain family member 7 | Altid | I 1 tilstand |
| TMEM216transmembrane protein 216 | Altid | I 1 tilstand |
| TSPAN7tetraspanin 7 | Altid | I 1 tilstand |
| TUBTUB bipartite transcription factor | Altid | I 1 tilstand |
| UBAP2Lubiquitin associated protein 2 like | Altid | I 1 tilstand |
| VPS13Bvacuolar protein sorting 13 homolog B | Altid | I 2 tilstande |
| WDR19WD repeat domain 19 | Altid | I 2 tilstande |
Vis 369 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| ZFXzinc finger protein X-linked | Altid | I 1 tilstand |
| ZMYM3zinc finger MYM-type containing 3 | Altid | I 1 tilstand |
| ASXL1ASXL transcriptional regulator 1 | Meget ofte (80–99 %) | I 1 tilstand |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Meget ofte (80–99 %) | I 2 tilstande |
| BMP4bone morphogenetic protein 4 | Meget ofte (80–99 %) | I 3 tilstande |
| CHMCHM Rab escort protein | Meget ofte (80–99 %) | I 1 tilstand |
| CLDN19claudin 19 | Meget ofte (80–99 %) | I 2 tilstande |
| COL18A1collagen type XVIII alpha 1 chain | Meget ofte (80–99 %) | I 1 tilstand |
| CRPPACDP-L-ribitol pyrophosphorylase A | Meget ofte (80–99 %) | I 1 tilstand |
| DPYDdihydropyrimidine dehydrogenase | Meget ofte (80–99 %) | I 2 tilstande |
| FKRPfukutin related protein | Meget ofte (80–99 %) | I 5 tilstande |
| FKTNfukutin | Meget ofte (80–99 %) | I 4 tilstande |
| GMPPBGDP-mannose pyrophosphorylase B | Meget ofte (80–99 %) | I 3 tilstande |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Meget ofte (80–99 %) | I 3 tilstande |
| LRP2LDL receptor related protein 2 | Meget ofte (80–99 %) | I 1 tilstand |
| OATornithine aminotransferase | Meget ofte (80–99 %) | I 2 tilstande |
| PAK2p21 (RAC1) activated kinase 2 | Meget ofte (80–99 %) | I 1 tilstand |
| POMT1protein O-mannosyltransferase 1 | Meget ofte (80–99 %) | I 5 tilstande |
| POMT2protein O-mannosyltransferase 2 | Meget ofte (80–99 %) | I 6 tilstande |
| PRDM5PR/SET domain 5 | Meget ofte (80–99 %) | I 1 tilstand |
| PTENphosphatase and tensin homolog | Meget ofte (80–99 %) | I 3 tilstande |
| TCF4transcription factor 4 | Meget ofte (80–99 %) | I 2 tilstande |
| TRPM1transient receptor potential cation channel subfamily M member 1 | Meget ofte (80–99 %) | I 1 tilstand |
| TULP1TUB like protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| ACOX1acyl-CoA oxidase 1 | Ofte (30–79 %) | I 1 tilstand |
| ADAMTS2ADAM metallopeptidase with thrombospondin type 1 motif 2 | Ofte (30–79 %) | I 2 tilstande |
| ADAMTSL1ADAMTS like 1 | Ofte (30–79 %) | I 1 tilstand |
| ADAMTSL2ADAMTS like 2 | Ofte (30–79 %) | I 2 tilstande |
| ADGRV1adhesion G protein-coupled receptor V1 | Ofte (30–79 %) | I 1 tilstand |
| AGBL5AGBL carboxypeptidase 5 | Ofte (30–79 %) | I 1 tilstand |
| AGKacylglycerol kinase | Ofte (30–79 %) | I 2 tilstande |
| ARID1BAT-rich interaction domain 1B | Ofte (30–79 %) | I 2 tilstande |
| ARL6ARF like GTPase 6 | Ofte (30–79 %) | I 1 tilstand |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Ofte (30–79 %) | I 1 tilstand |
| ATAD3AATPase family AAA domain containing 3A | Ofte (30–79 %) | I 2 tilstande |
| ATF6activating transcription factor 6 | Ofte (30–79 %) | I 1 tilstand |
| B4GALT1beta-1,4-galactosyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| BBS1Bardet-Biedl syndrome 1 | Ofte (30–79 %) | I 1 tilstand |
| BPTFbromodomain PHD finger transcription factor | Ofte (30–79 %) | I 1 tilstand |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Ofte (30–79 %) | I 3 tilstande |
| BRD4bromodomain containing 4 | Ofte (30–79 %) | I 1 tilstand |
| CAMTA1calmodulin binding transcription activator 1 | Ofte (30–79 %) | I 1 tilstand |
| CASKcalcium/calmodulin dependent serine protein kinase | Ofte (30–79 %) | I 1 tilstand |
| CBScystathionine beta-synthase | Ofte (30–79 %) | I 2 tilstande |
| CCDC28Bcoiled-coil domain containing 28B | Ofte (30–79 %) | I 1 tilstand |
| CDK8cyclin dependent kinase 8 | Ofte (30–79 %) | I 1 tilstand |
| CHST14carbohydrate sulfotransferase 14 | Ofte (30–79 %) | I 2 tilstande |
| CNGA3cyclic nucleotide gated channel subunit alpha 3 | Ofte (30–79 %) | I 1 tilstand |
| CNGB3cyclic nucleotide gated channel subunit beta 3 | Ofte (30–79 %) | I 1 tilstand |
| COL1A2collagen type I alpha 2 chain | Ofte (30–79 %) | I 2 tilstande |
| COL9A2collagen type IX alpha 2 chain | Ofte (30–79 %) | I 1 tilstand |
| COL9A3collagen type IX alpha 3 chain | Ofte (30–79 %) | I 1 tilstand |
| CRYAAcrystallin alpha A | Ofte (30–79 %) | I 1 tilstand |
| CRYBA4crystallin beta A4 | Ofte (30–79 %) | I 1 tilstand |
| CRYBB1crystallin beta B1 | Ofte (30–79 %) | I 1 tilstand |
| CRYBB2crystallin beta B2 | Ofte (30–79 %) | I 1 tilstand |
| CRYGCcrystallin gamma C | Ofte (30–79 %) | I 1 tilstand |
| CRYGDcrystallin gamma D | Ofte (30–79 %) | I 1 tilstand |
| DSEdermatan sulfate epimerase | Ofte (30–79 %) | I 1 tilstand |
| EXOSC5exosome component 5 | Ofte (30–79 %) | I 1 tilstand |
| FANCIFA complementation group I | Ofte (30–79 %) | I 1 tilstand |
| FBN1fibrillin 1 | Ofte (30–79 %) | I 5 tilstande |
| FGFR2fibroblast growth factor receptor 2 | Ofte (30–79 %) | I 1 tilstand |
| FKBP14FKBP prolyl isomerase 14 | Ofte (30–79 %) | I 2 tilstande |
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Ofte (30–79 %) | I 1 tilstand |
| GJA1gap junction protein alpha 1 | Ofte (30–79 %) | I 2 tilstande |
| GJA8gap junction protein alpha 8 | Ofte (30–79 %) | I 1 tilstand |
| GNAT2G protein subunit alpha transducin 2 | Ofte (30–79 %) | I 1 tilstand |
| GPAA1glycosylphosphatidylinositol anchor attachment 1 | Ofte (30–79 %) | I 2 tilstande |
| GPR156G protein-coupled receptor 156 | Ofte (30–79 %) | I 1 tilstand |
| GRM6glutamate metabotropic receptor 6 | Ofte (30–79 %) | I 1 tilstand |
| GTPBP2GTP binding protein 2 | Ofte (30–79 %) | I 1 tilstand |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Ofte (30–79 %) | I 2 tilstande |
| HDAC8histone deacetylase 8 | Ofte (30–79 %) | I 2 tilstande |
| HRASHRas proto-oncogene, GTPase | Ofte (30–79 %) | I 1 tilstand |
| HSPG2heparan sulfate proteoglycan 2 | Ofte (30–79 %) | I 2 tilstande |
| HYAL2hyaluronidase 2 | Ofte (30–79 %) | I 1 tilstand |
| KAT6Alysine acetyltransferase 6A | Ofte (30–79 %) | I 1 tilstand |
| KDM5Blysine demethylase 5B | Ofte (30–79 %) | I 1 tilstand |
| KIF11kinesin family member 11 | Ofte (30–79 %) | I 2 tilstande |
| KRASKRas proto-oncogene, GTPase | Ofte (30–79 %) | I 3 tilstande |
| LAMA1laminin subunit alpha 1 | Ofte (30–79 %) | I 2 tilstande |
| LAMP2lysosome associated membrane protein 2 | Ofte (30–79 %) | I 1 tilstand |
| LOXL3lysyl oxidase like 3 | Ofte (30–79 %) | I 1 tilstand |
| LRRC8Cleucine rich repeat containing 8 VRAC subunit C | Ofte (30–79 %) | I 1 tilstand |
| MAFMAF bZIP transcription factor | Ofte (30–79 %) | I 1 tilstand |
| MAN2B1mannosidase alpha class 2B member 1 | Ofte (30–79 %) | I 2 tilstande |
| MAP2K1mitogen-activated protein kinase kinase 1 | Ofte (30–79 %) | I 3 tilstande |
| MAU2MAU2 sister chromatid cohesion factor | Ofte (30–79 %) | I 2 tilstande |
| MYO1Hmyosin IH | Ofte (30–79 %) | I 1 tilstand |
| MYO5Amyosin VA | Ofte (30–79 %) | I 1 tilstand |
| MYO7Amyosin VIIA | Ofte (30–79 %) | I 1 tilstand |
| NBASNBAS subunit of NRZ tethering complex | Ofte (30–79 %) | I 1 tilstand |
| NDRG1N-myc downstream regulated 1 | Ofte (30–79 %) | I 1 tilstand |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Ofte (30–79 %) | I 1 tilstand |
| NFIXnuclear factor I X | Ofte (30–79 %) | I 2 tilstande |
| NIPBLNIPBL cohesin loading factor | Ofte (30–79 %) | I 2 tilstande |
| NONOnon-POU domain containing octamer binding | Ofte (30–79 %) | I 2 tilstande |
| NSD1nuclear receptor binding SET domain protein 1 | Ofte (30–79 %) | I 2 tilstande |
| OPN1LWopsin 1, long wave sensitive | Ofte (30–79 %) | I 2 tilstande |
| OPN1MWopsin 1, medium wave sensitive | Ofte (30–79 %) | I 2 tilstande |
| PAX2paired box 2 | Ofte (30–79 %) | I 1 tilstand |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Ofte (30–79 %) | I 1 tilstand |
| PDE6Cphosphodiesterase 6C | Ofte (30–79 %) | I 1 tilstand |
| PDE6Hphosphodiesterase 6H | Ofte (30–79 %) | I 1 tilstand |
| PDZD7PDZ domain containing 7 | Ofte (30–79 %) | I 1 tilstand |
| PDZD8PDZ domain containing 8 | Ofte (30–79 %) | I 1 tilstand |
| POLR1CRNA polymerase I and III subunit C | Ofte (30–79 %) | I 1 tilstand |
| POLR3ARNA polymerase III subunit A | Ofte (30–79 %) | I 3 tilstande |
| POLR3BRNA polymerase III subunit B | Ofte (30–79 %) | I 2 tilstande |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Ofte (30–79 %) | I 1 tilstand |
| PRR12proline rich 12 | Ofte (30–79 %) | I 1 tilstand |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Ofte (30–79 %) | I 1 tilstand |
| RAD21RAD21 cohesin complex component | Ofte (30–79 %) | I 1 tilstand |
| RAI1retinoic acid induced 1 | Ofte (30–79 %) | I 2 tilstande |
| RHOAras homolog family member A | Ofte (30–79 %) | I 1 tilstand |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Ofte (30–79 %) | I 1 tilstand |
| RNU5B-1RNA, U5B small nuclear 1 | Ofte (30–79 %) | I 1 tilstand |
| RPGRretinitis pigmentosa GTPase regulator | Ofte (30–79 %) | I 2 tilstande |
| SETD5SET domain containing 5 | Ofte (30–79 %) | I 1 tilstand |
| SLC25A4solute carrier family 25 member 4 | Ofte (30–79 %) | I 1 tilstand |
| SLC2A10solute carrier family 2 member 10 | Ofte (30–79 %) | I 2 tilstande |
| SMC1Astructural maintenance of chromosomes 1A | Ofte (30–79 %) | I 1 tilstand |
| SMC3structural maintenance of chromosomes 3 | Ofte (30–79 %) | I 2 tilstande |
| SOX10SRY-box transcription factor 10 | Ofte (30–79 %) | I 1 tilstand |
| SOX5SRY-box transcription factor 5 | Ofte (30–79 %) | I 2 tilstande |
| TAF1TATA-box binding protein associated factor 1 | Ofte (30–79 %) | I 1 tilstand |
| TFE3transcription factor binding to IGHM enhancer 3 | Ofte (30–79 %) | I 1 tilstand |
| THOC6THO complex subunit 6 | Ofte (30–79 %) | I 1 tilstand |
| TKFCtriokinase and FMN cyclase | Ofte (30–79 %) | I 1 tilstand |
| TLK2tousled like kinase 2 | Ofte (30–79 %) | I 1 tilstand |
| TMEM63Atransmembrane protein 63A | Ofte (30–79 %) | I 1 tilstand |
| TWIST2twist family bHLH transcription factor 2 | Ofte (30–79 %) | I 1 tilstand |
| UBE3Bubiquitin protein ligase E3B | Ofte (30–79 %) | I 2 tilstande |
| UNC119unc-119 lipid binding chaperone | Ofte (30–79 %) | I 1 tilstand |
| USH2Ausherin | Ofte (30–79 %) | I 1 tilstand |
| VARS1valyl-tRNA synthetase 1 | Ofte (30–79 %) | I 1 tilstand |
| VCANversican | Ofte (30–79 %) | I 2 tilstande |
| WHRNwhirlin | Ofte (30–79 %) | I 1 tilstand |
| YME1L1YME1 like 1 ATPase | Ofte (30–79 %) | I 1 tilstand |
| ZNF408zinc finger protein 408 | Ofte (30–79 %) | I 1 tilstand |
| ZSWIM6zinc finger SWIM-type containing 6 | Ofte (30–79 %) | I 2 tilstande |
| AARS1alanyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ACSL4acyl-CoA synthetase long chain family member 4 | Nogle gange (5–29 %) | I 1 tilstand |
| AEBP1AE binding protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| AFF4ALF transcription elongation factor 4 | Nogle gange (5–29 %) | I 1 tilstand |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Nogle gange (5–29 %) | I 1 tilstand |
| AKT1AKT serine/threonine kinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Nogle gange (5–29 %) | I 1 tilstand |
| ALMS1ALMS1 centrosome and basal body associated protein | Nogle gange (5–29 %) | I 1 tilstand |
| AMMECR1AMMECR nuclear protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| AMOTL1angiomotin like 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ANKRD11ankyrin repeat domain 11 | Nogle gange (5–29 %) | I 1 tilstand |
| ANTXR1ANTXR cell adhesion molecule 1 | Nogle gange (5–29 %) | I 1 tilstand |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ARCN1archain 1 coat protein complex I subunit delta | Nogle gange (5–29 %) | I 1 tilstand |
| ARID1AAT-rich interaction domain 1A | Nogle gange (5–29 %) | I 1 tilstand |
| ARID2AT-rich interaction domain 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Nogle gange (5–29 %) | I 1 tilstand |
| ATRXATRX chromatin remodeler | Nogle gange (5–29 %) | I 1 tilstand |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Nogle gange (5–29 %) | I 1 tilstand |
| BCL11BBCL11 transcription factor B | Nogle gange (5–29 %) | I 1 tilstand |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Nogle gange (5–29 %) | I 1 tilstand |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Nogle gange (5–29 %) | I 1 tilstand |
| CABP4calcium binding protein 4 | Nogle gange (5–29 %) | I 1 tilstand |
| CAPRIN1cell cycle associated protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CARS1cysteinyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CCNQcyclin Q | Nogle gange (5–29 %) | I 1 tilstand |
| CDC45cell division cycle 45 | Nogle gange (5–29 %) | I 1 tilstand |
| CHD6chromodomain helicase DNA binding protein 6 | Nogle gange (5–29 %) | I 1 tilstand |
| CHMP1Acharged multivesicular body protein 1A | Nogle gange (5–29 %) | I 1 tilstand |
| CILK1ciliogenesis associated kinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CLDN16claudin 16 | Nogle gange (5–29 %) | I 1 tilstand |
| CLIP2CAP-Gly domain containing linker protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| COL12A1collagen type XII alpha 1 chain | Nogle gange (5–29 %) | I 1 tilstand |
| COL1A1collagen type I alpha 1 chain | Nogle gange (5–29 %) | I 1 tilstand |
| COL4A5collagen type IV alpha 5 chain | Nogle gange (5–29 %) | I 3 tilstande |
| COL4A6collagen type IV alpha 6 chain | Nogle gange (5–29 %) | I 1 tilstand |
| COX7Bcytochrome c oxidase subunit 7B | Nogle gange (5–29 %) | I 1 tilstand |
| CREBBPCREB binding lysine acetyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| CRELD1CRELD disulfide isomerase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CRYBA2crystallin beta A2 | Nogle gange (5–29 %) | I 1 tilstand |
| CSPP1centrosome and spindle pole associated protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CTNNB1catenin beta 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CYP1B1cytochrome P450 family 1 subfamily B member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DBR1debranching RNA lariats 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Nogle gange (5–29 %) | I 1 tilstand |
| DPF2double PHD fingers 2 | Nogle gange (5–29 %) | I 1 tilstand |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Nogle gange (5–29 %) | I 2 tilstande |
| EBF3EBF transcription factor 3 | Nogle gange (5–29 %) | I 1 tilstand |
| EIF4Heukaryotic translation initiation factor 4H | Nogle gange (5–29 %) | I 1 tilstand |
| ELNelastin | Nogle gange (5–29 %) | I 1 tilstand |
| ELP1elongator acetyltransferase complex subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| EMC1ER membrane protein complex subunit 1 | Nogle gange (5–29 %) | I 2 tilstande |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Nogle gange (5–29 %) | I 1 tilstand |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Nogle gange (5–29 %) | I 1 tilstand |
| FBXW11F-box and WD repeat domain containing 11 | Nogle gange (5–29 %) | I 1 tilstand |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Nogle gange (5–29 %) | I 1 tilstand |
| FN1fibronectin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| FZD4frizzled class receptor 4 | Nogle gange (5–29 %) | I 1 tilstand |
| GPR143G protein-coupled receptor 143 | Nogle gange (5–29 %) | I 1 tilstand |
| GRK1G protein-coupled receptor kinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GTF2E2general transcription factor IIE subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GTF2H5general transcription factor IIH subunit 5 | Nogle gange (5–29 %) | I 1 tilstand |
| GTF2Igeneral transcription factor IIi | Nogle gange (5–29 %) | I 1 tilstand |
| GTF2IRD1GTF2I repeat domain containing 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GTF2IRD2GTF2I repeat domain containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Nogle gange (5–29 %) | I 1 tilstand |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Nogle gange (5–29 %) | I 2 tilstande |
| IFT122intraflagellar transport 122 | Nogle gange (5–29 %) | I 2 tilstande |
| IFT43intraflagellar transport 43 | Nogle gange (5–29 %) | I 1 tilstand |
| IFT52intraflagellar transport 52 | Nogle gange (5–29 %) | I 1 tilstand |
| IGF1insulin like growth factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| IPO8importin 8 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNE5potassium voltage-gated channel subfamily E regulatory subunit 5 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNJ13potassium inwardly rectifying channel subfamily J member 13 | Nogle gange (5–29 %) | I 1 tilstand |
| KDM5Clysine demethylase 5C | Nogle gange (5–29 %) | I 1 tilstand |
| KIAA0586KIAA0586 | Nogle gange (5–29 %) | I 1 tilstand |
| LAMB2laminin subunit beta 2 | Nogle gange (5–29 %) | I 1 tilstand |
| LCA5lebercilin LCA5 | Nogle gange (5–29 %) | I 1 tilstand |
| LIMK1LIM domain kinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| LOXlysyl oxidase | Nogle gange (5–29 %) | I 1 tilstand |
| LRATlecithin retinol acyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| LRP5LDL receptor related protein 5 | Nogle gange (5–29 %) | I 1 tilstand |
| LTBP2latent transforming growth factor beta binding protein 2 | Nogle gange (5–29 %) | I 2 tilstande |
| LTBP3latent transforming growth factor beta binding protein 3 | Nogle gange (5–29 %) | I 1 tilstand |
| MADDMAP kinase activating death domain | Nogle gange (5–29 %) | I 1 tilstand |
| MAGEL2MAGE family member L2 | Nogle gange (5–29 %) | I 3 tilstande |
| MARK2microtubule affinity regulating kinase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MED12Lmediator complex subunit 12L | Nogle gange (5–29 %) | I 1 tilstand |
| MED13Lmediator complex subunit 13L | Nogle gange (5–29 %) | I 1 tilstand |
| METTL27methyltransferase like 27 | Nogle gange (5–29 %) | I 1 tilstand |
| MKRN3makorin ring finger protein 3 | Nogle gange (5–29 %) | I 1 tilstand |
| MPLKIPM-phase specific PLK1 interacting protein | Nogle gange (5–29 %) | I 1 tilstand |
| MSX2msh homeobox 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MYOCmyocilin | Nogle gange (5–29 %) | I 2 tilstande |
| NCF1neutrophil cytosolic factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NDPnorrin cystine knot growth factor NDP | Nogle gange (5–29 %) | I 1 tilstand |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Nogle gange (5–29 %) | I 1 tilstand |
| NOTCH2notch receptor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| NPAP1nuclear pore associated protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NPR3natriuretic peptide receptor 3 | Nogle gange (5–29 %) | I 1 tilstand |
| NRASNRAS proto-oncogene, GTPase | Nogle gange (5–29 %) | I 1 tilstand |
| NT5C25'-nucleotidase, cytosolic II | Nogle gange (5–29 %) | I 2 tilstande |
| OTX2orthodenticle homeobox 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PACS2phosphofurin acidic cluster sorting protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Nogle gange (5–29 %) | I 1 tilstand |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Nogle gange (5–29 %) | I 2 tilstande |
| PMM2phosphomannomutase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PNPLA6patatin like domain 6, lysophospholipase | Nogle gange (5–29 %) | I 1 tilstand |
| POGZpogo transposable element derived with ZNF domain | Nogle gange (5–29 %) | I 2 tilstande |
| POMKprotein O-mannose kinase | Nogle gange (5–29 %) | I 1 tilstand |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Nogle gange (5–29 %) | I 1 tilstand |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Nogle gange (5–29 %) | I 1 tilstand |
| PRPH2peripherin 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PSAPprosaposin | Nogle gange (5–29 %) | I 1 tilstand |
| PTBP1polypyrimidine tract binding protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PUF60poly(U) binding splicing factor 60 | Nogle gange (5–29 %) | I 1 tilstand |
| PURApurine rich element binding protein A | Nogle gange (5–29 %) | I 1 tilstand |
| PWAR1Prader Willi/Angelman region RNA 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PWRN1Prader-Willi region non-protein coding RNA 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RBM10RNA binding motif protein 10 | Nogle gange (5–29 %) | I 1 tilstand |
| REREarginine-glutamic acid dipeptide repeats | Nogle gange (5–29 %) | I 1 tilstand |
| RFC2replication factor C subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| RNF113Aring finger protein 113A | Nogle gange (5–29 %) | I 1 tilstand |
| RNU4-2RNA, U4 small nuclear 2 | Nogle gange (5–29 %) | I 1 tilstand |
| RPE65retinoid isomerohydrolase RPE65 | Nogle gange (5–29 %) | I 1 tilstand |
| RPL10ribosomal protein L10 | Nogle gange (5–29 %) | I 1 tilstand |
| SAGS-antigen visual arrestin | Nogle gange (5–29 %) | I 1 tilstand |
| SETBP1SET binding protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Nogle gange (5–29 %) | I 1 tilstand |
| SKISKI proto-oncogene | Nogle gange (5–29 %) | I 2 tilstande |
| SLC12A6solute carrier family 12 member 6 | Nogle gange (5–29 %) | I 1 tilstand |
| SMAD2SMAD family member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SMAD3SMAD family member 3 | Nogle gange (5–29 %) | I 1 tilstand |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Nogle gange (5–29 %) | I 1 tilstand |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Nogle gange (5–29 %) | I 1 tilstand |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Nogle gange (5–29 %) | I 1 tilstand |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Nogle gange (5–29 %) | I 1 tilstand |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Nogle gange (5–29 %) | I 1 tilstand |
| SNORD115-1small nucleolar RNA, C/D box 115-1 | Nogle gange (5–29 %) | I 1 tilstand |
| SNORD116-1small nucleolar RNA, C/D box 116-1 | Nogle gange (5–29 %) | I 1 tilstand |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Nogle gange (5–29 %) | I 1 tilstand |
| SONSON DNA and RNA binding protein | Nogle gange (5–29 %) | I 1 tilstand |
| SOX11SRY-box transcription factor 11 | Nogle gange (5–29 %) | I 1 tilstand |
| SOX4SRY-box transcription factor 4 | Nogle gange (5–29 %) | I 1 tilstand |
| SOX9SRY-box transcription factor 9 | Nogle gange (5–29 %) | I 1 tilstand |
| SPATA7spermatogenesis associated 7 | Nogle gange (5–29 %) | I 1 tilstand |
| STX1Asyntaxin 1A | Nogle gange (5–29 %) | I 1 tilstand |
| TARS1threonyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TBC1D24TBC1 domain family member 24 | Nogle gange (5–29 %) | I 1 tilstand |
| TBL2transducin beta like 2 | Nogle gange (5–29 %) | I 1 tilstand |
| TEKTEK receptor tyrosine kinase | Nogle gange (5–29 %) | I 1 tilstand |
| TFAP2Btranscription factor AP-2 beta | Nogle gange (5–29 %) | I 1 tilstand |
| TGFB2transforming growth factor beta 2 | Nogle gange (5–29 %) | I 1 tilstand |
| TGFB3transforming growth factor beta 3 | Nogle gange (5–29 %) | I 1 tilstand |
| TGFBR1transforming growth factor beta receptor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TGFBR2transforming growth factor beta receptor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM270transmembrane protein 270 | Nogle gange (5–29 %) | I 1 tilstand |
| TNPO2transportin 2 | Nogle gange (5–29 %) | I 1 tilstand |
| TRA2Btransformer 2 beta homolog | Nogle gange (5–29 %) | I 1 tilstand |
| TRAPPC11trafficking protein particle complex subunit 11 | Nogle gange (5–29 %) | I 2 tilstande |
| USP7ubiquitin specific peptidase 7 | Nogle gange (5–29 %) | I 1 tilstand |
| USP9Xubiquitin specific peptidase 9 X-linked | Nogle gange (5–29 %) | I 2 tilstande |
| VPS37DVPS37D subunit of ESCRT-I | Nogle gange (5–29 %) | I 1 tilstand |
| WACWW domain containing adaptor with coiled-coil | Nogle gange (5–29 %) | I 2 tilstande |
| WDR26WD repeat domain 26 | Nogle gange (5–29 %) | I 2 tilstande |
| WDR35WD repeat domain 35 | Nogle gange (5–29 %) | I 1 tilstand |
| XYLT1xylosyltransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| XYLT2xylosyltransferase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ZEB2zinc finger E-box binding homeobox 2 | Nogle gange (5–29 %) | I 2 tilstande |
| APC2APC regulator of Wnt signaling pathway 2 | Sjældent (1–4%) | I 1 tilstand |
| MYT1Lmyelin transcription factor 1 like | Sjældent (1–4%) | I 1 tilstand |
| NALCNsodium leak channel, non-selective | Sjældent (1–4%) | I 1 tilstand |
| NR2F1nuclear receptor subfamily 2 group F member 1 | Sjældent (1–4%) | I 1 tilstand |
| ABCC6ATP binding cassette subfamily C member 6 | Ikke registreret | I 1 tilstand |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Ikke registreret | I 1 tilstand |
| AP1B1adaptor related protein complex 1 subunit beta 1 | Ikke registreret | I 1 tilstand |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Ikke registreret | I 1 tilstand |
| B3GLCTbeta 3-glucosyltransferase | Ikke registreret | I 1 tilstand |
| BFSP2beaded filament structural protein 2 | Ikke registreret | I 1 tilstand |
| BLOC1S3biogenesis of lysosomal organelles complex 1 subunit 3 | Ikke registreret | I 1 tilstand |
| C12orf57chromosome 12 open reading frame 57 | Ikke registreret | I 1 tilstand |
| CANT1calcium activated nucleotidase 1 | Ikke registreret | I 1 tilstand |
| CFAP418cilia and flagella associated protein 418 | Ikke registreret | I 1 tilstand |
| COL4A1collagen type IV alpha 1 chain | Ikke registreret | I 1 tilstand |
| COL4A3collagen type IV alpha 3 chain | Ikke registreret | I 2 tilstande |
| COL4A4collagen type IV alpha 4 chain | Ikke registreret | I 2 tilstande |
| COL5A1collagen type V alpha 1 chain | Ikke registreret | I 1 tilstand |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Ikke registreret | I 1 tilstand |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Ikke registreret | I 1 tilstand |
| EPHA2EPH receptor A2 | Ikke registreret | I 1 tilstand |
| FBN2fibrillin 2 | Ikke registreret | I 1 tilstand |
| GJC2gap junction protein gamma 2 | Ikke registreret | I 1 tilstand |
| GLE1GLE1 RNA export mediator | Ikke registreret | I 1 tilstand |
| GLRBglycine receptor beta | Ikke registreret | I 1 tilstand |
| HTThuntingtin | Ikke registreret | I 1 tilstand |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Ikke registreret | I 1 tilstand |
| IFIH1interferon induced with helicase C domain 1 | Ikke registreret | I 1 tilstand |
| JAG1jagged canonical Notch ligand 1 | Ikke registreret | I 1 tilstand |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Ikke registreret | I 1 tilstand |
| KCNV2potassium voltage-gated channel modifier subfamily V member 2 | Ikke registreret | I 1 tilstand |
| MBD5methyl-CpG binding domain protein 5 | Ikke registreret | I 1 tilstand |
| MC1Rmelanocortin 1 receptor | Ikke registreret | I 1 tilstand |
| OCA2OCA2 melanosomal transmembrane protein | Ikke registreret | I 1 tilstand |
| OPTNoptineurin | Ikke registreret | I 1 tilstand |
| PACS1phosphofurin acidic cluster sorting protein 1 | Ikke registreret | I 1 tilstand |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Ikke registreret | I 1 tilstand |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Ikke registreret | I 1 tilstand |
| RECQL4RecQ like helicase 4 | Ikke registreret | I 1 tilstand |
| RP1RP1 axonemal microtubule associated | Ikke registreret | I 1 tilstand |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Ikke registreret | I 1 tilstand |
| SRCAPSnf2 related CREBBP activator protein | Ikke registreret | I 1 tilstand |
| TCF20transcription factor 20 | Ikke registreret | I 1 tilstand |
| TDO2tryptophan 2,3-dioxygenase | Ikke registreret | I 1 tilstand |
| TEAD1TEA domain transcription factor 1 | Ikke registreret | I 1 tilstand |
| TFAP2Atranscription factor AP-2 alpha | Ikke registreret | I 1 tilstand |
| THG1LtRNA-histidine guanylyltransferase 1 like | Ikke registreret | I 1 tilstand |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Ikke registreret | I 1 tilstand |
| TMEM94transmembrane protein 94 | Ikke registreret | I 1 tilstand |
| TRIT1tRNA isopentenyltransferase 1 | Ikke registreret | I 1 tilstand |
| TRNT1tRNA nucleotidyl transferase 1 | Ikke registreret | I 1 tilstand |
| TYRtyrosinase | Ikke registreret | I 1 tilstand |
| UBE3Aubiquitin protein ligase E3A | Ikke registreret | I 1 tilstand |
| UCHL1ubiquitin C-terminal hydrolase L1 | Ikke registreret | I 1 tilstand |
| ZNF469zinc finger protein 469 | 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.
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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.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger