Egenskap
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.
Sammendrag
- Også kalt
- Near sighted, Near sightedness, Nearsightedness
- Kroppssystem
- Abnormality of the eye
ReferansegenomGRCh38hg38
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Endringer i disse genene forårsaker sjeldne tilstander der Close sighted 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 |
|---|---|---|
| ADAMTS18ADAM metallopeptidase with thrombospondin type 1 motif 18 | Alltid | I 1 tilstand |
| B3GALT6beta-1,3-galactosyltransferase 6 | Alltid | I 2 tilstander |
| CACNA1Fcalcium voltage-gated channel subunit alpha1 F | Alltid | I 3 tilstander |
| CAMK2Gcalcium/calmodulin dependent protein kinase II gamma | Alltid | I 1 tilstand |
| COL11A1collagen type XI alpha 1 chain | Alltid | I 4 tilstander |
| COL2A1collagen type II alpha 1 chain | Alltid | I 14 tilstander |
| COL9A1collagen type IX alpha 1 chain | Alltid | I 2 tilstander |
| COPZ1coat protein complex I subunit zeta 1 | Alltid | I 1 tilstand |
| CRNKL1crooked neck pre-mRNA splicing factor 1 | Alltid | I 1 tilstand |
| EEDembryonic ectoderm development | Alltid | I 1 tilstand |
| ERI1exoribonuclease 1 | Alltid | I 1 tilstand |
| EXOSC2exosome component 2 | Alltid | I 1 tilstand |
| GNPTGN-acetylglucosamine-1-phosphate transferase subunit gamma | Alltid | I 1 tilstand |
| IFT27intraflagellar transport 27 | Alltid | I 1 tilstand |
| INTS11integrator complex subunit 11 | Alltid | I 1 tilstand |
| KDM2Blysine demethylase 2B | Alltid | I 1 tilstand |
| KDM6Blysine demethylase 6B | Alltid | I 1 tilstand |
| LRRC32leucine rich repeat containing 32 | Alltid | I 1 tilstand |
| MAP2K2mitogen-activated protein kinase kinase 2 | Alltid | I 3 tilstander |
| MSL2MSL complex subunit 2 | Alltid | I 1 tilstand |
| NHEJ1non-homologous end joining factor 1 | Alltid | I 1 tilstand |
| NOS3nitric oxide synthase 3 | Alltid | I 1 tilstand |
| NR6A1nuclear receptor subfamily 6 group A member 1 | Alltid | I 1 tilstand |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Alltid | I 1 tilstand |
| PEX11Bperoxisomal biogenesis factor 11 beta | Alltid | I 1 tilstand |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Alltid | I 1 tilstand |
| PLOD3procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | Alltid | I 1 tilstand |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Alltid | I 4 tilstander |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Alltid | I 2 tilstander |
| RFC4replication factor C subunit 4 | Alltid | I 1 tilstand |
| RP2RP2 activator of ARL3 GTPase | Alltid | I 1 tilstand |
| RPGRIP1RPGR interacting protein 1 | Alltid | I 2 tilstander |
| SPTSSAserine palmitoyltransferase small subunit A | Alltid | I 1 tilstand |
| TBC1D7TBC1 domain family member 7 | Alltid | I 1 tilstand |
| TMEM216transmembrane protein 216 | Alltid | I 1 tilstand |
| TSPAN7tetraspanin 7 | Alltid | I 1 tilstand |
| TUBTUB bipartite transcription factor | Alltid | I 1 tilstand |
| UBAP2Lubiquitin associated protein 2 like | Alltid | I 1 tilstand |
| VPS13Bvacuolar protein sorting 13 homolog B | Alltid | I 2 tilstander |
| WDR19WD repeat domain 19 | Alltid | I 2 tilstander |
Vis 369 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| ZFXzinc finger protein X-linked | Alltid | I 1 tilstand |
| ZMYM3zinc finger MYM-type containing 3 | Alltid | I 1 tilstand |
| ASXL1ASXL transcriptional regulator 1 | Svært ofte (80–99 %) | I 1 tilstand |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Svært ofte (80–99 %) | I 2 tilstander |
| BMP4bone morphogenetic protein 4 | Svært ofte (80–99 %) | I 3 tilstander |
| CHMCHM Rab escort protein | Svært ofte (80–99 %) | I 1 tilstand |
| CLDN19claudin 19 | Svært ofte (80–99 %) | I 2 tilstander |
| COL18A1collagen type XVIII alpha 1 chain | Svært ofte (80–99 %) | I 1 tilstand |
| CRPPACDP-L-ribitol pyrophosphorylase A | Svært ofte (80–99 %) | I 1 tilstand |
| DPYDdihydropyrimidine dehydrogenase | Svært ofte (80–99 %) | I 2 tilstander |
| FKRPfukutin related protein | Svært ofte (80–99 %) | I 5 tilstander |
| FKTNfukutin | Svært ofte (80–99 %) | I 4 tilstander |
| GMPPBGDP-mannose pyrophosphorylase B | Svært ofte (80–99 %) | I 3 tilstander |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Svært ofte (80–99 %) | I 3 tilstander |
| LRP2LDL receptor related protein 2 | Svært ofte (80–99 %) | I 1 tilstand |
| OATornithine aminotransferase | Svært ofte (80–99 %) | I 2 tilstander |
| PAK2p21 (RAC1) activated kinase 2 | Svært ofte (80–99 %) | I 1 tilstand |
| POMT1protein O-mannosyltransferase 1 | Svært ofte (80–99 %) | I 5 tilstander |
| POMT2protein O-mannosyltransferase 2 | Svært ofte (80–99 %) | I 6 tilstander |
| PRDM5PR/SET domain 5 | Svært ofte (80–99 %) | I 1 tilstand |
| PTENphosphatase and tensin homolog | Svært ofte (80–99 %) | I 3 tilstander |
| TCF4transcription factor 4 | Svært ofte (80–99 %) | I 2 tilstander |
| TRPM1transient receptor potential cation channel subfamily M member 1 | Svært ofte (80–99 %) | I 1 tilstand |
| TULP1TUB like protein 1 | Svært 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 tilstander |
| ADAMTSL1ADAMTS like 1 | Ofte (30–79 %) | I 1 tilstand |
| ADAMTSL2ADAMTS like 2 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| ARID1BAT-rich interaction domain 1B | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| FGFR2fibroblast growth factor receptor 2 | Ofte (30–79 %) | I 1 tilstand |
| FKBP14FKBP prolyl isomerase 14 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| HDAC8histone deacetylase 8 | Ofte (30–79 %) | I 2 tilstander |
| HRASHRas proto-oncogene, GTPase | Ofte (30–79 %) | I 1 tilstand |
| HSPG2heparan sulfate proteoglycan 2 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| KRASKRas proto-oncogene, GTPase | Ofte (30–79 %) | I 3 tilstander |
| LAMA1laminin subunit alpha 1 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| MAP2K1mitogen-activated protein kinase kinase 1 | Ofte (30–79 %) | I 3 tilstander |
| MAU2MAU2 sister chromatid cohesion factor | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| NIPBLNIPBL cohesin loading factor | Ofte (30–79 %) | I 2 tilstander |
| NONOnon-POU domain containing octamer binding | Ofte (30–79 %) | I 2 tilstander |
| NSD1nuclear receptor binding SET domain protein 1 | Ofte (30–79 %) | I 2 tilstander |
| OPN1LWopsin 1, long wave sensitive | Ofte (30–79 %) | I 2 tilstander |
| OPN1MWopsin 1, medium wave sensitive | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| POLR3BRNA polymerase III subunit B | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| SMC1Astructural maintenance of chromosomes 1A | Ofte (30–79 %) | I 1 tilstand |
| SMC3structural maintenance of chromosomes 3 | Ofte (30–79 %) | I 2 tilstander |
| SOX10SRY-box transcription factor 10 | Ofte (30–79 %) | I 1 tilstand |
| SOX5SRY-box transcription factor 5 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| AARS1alanyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ACSL4acyl-CoA synthetase long chain family member 4 | Noen ganger (5–29 %) | I 1 tilstand |
| AEBP1AE binding protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| AFF4ALF transcription elongation factor 4 | Noen ganger (5–29 %) | I 1 tilstand |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Noen ganger (5–29 %) | I 1 tilstand |
| AKT1AKT serine/threonine kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Noen ganger (5–29 %) | I 1 tilstand |
| ALMS1ALMS1 centrosome and basal body associated protein | Noen ganger (5–29 %) | I 1 tilstand |
| AMMECR1AMMECR nuclear protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| AMOTL1angiomotin like 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ANKRD11ankyrin repeat domain 11 | Noen ganger (5–29 %) | I 1 tilstand |
| ANTXR1ANTXR cell adhesion molecule 1 | Noen ganger (5–29 %) | I 1 tilstand |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ARCN1archain 1 coat protein complex I subunit delta | Noen ganger (5–29 %) | I 1 tilstand |
| ARID1AAT-rich interaction domain 1A | Noen ganger (5–29 %) | I 1 tilstand |
| ARID2AT-rich interaction domain 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Noen ganger (5–29 %) | I 1 tilstand |
| ATRXATRX chromatin remodeler | Noen ganger (5–29 %) | I 1 tilstand |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Noen ganger (5–29 %) | I 1 tilstand |
| BCL11BBCL11 transcription factor B | Noen ganger (5–29 %) | I 1 tilstand |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Noen ganger (5–29 %) | I 1 tilstand |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Noen ganger (5–29 %) | I 1 tilstand |
| CABP4calcium binding protein 4 | Noen ganger (5–29 %) | I 1 tilstand |
| CAPRIN1cell cycle associated protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CARS1cysteinyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CCNQcyclin Q | Noen ganger (5–29 %) | I 1 tilstand |
| CDC45cell division cycle 45 | Noen ganger (5–29 %) | I 1 tilstand |
| CHD6chromodomain helicase DNA binding protein 6 | Noen ganger (5–29 %) | I 1 tilstand |
| CHMP1Acharged multivesicular body protein 1A | Noen ganger (5–29 %) | I 1 tilstand |
| CILK1ciliogenesis associated kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CLDN16claudin 16 | Noen ganger (5–29 %) | I 1 tilstand |
| CLIP2CAP-Gly domain containing linker protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| COL12A1collagen type XII alpha 1 chain | Noen ganger (5–29 %) | I 1 tilstand |
| COL1A1collagen type I alpha 1 chain | Noen ganger (5–29 %) | I 1 tilstand |
| COL4A5collagen type IV alpha 5 chain | Noen ganger (5–29 %) | I 3 tilstander |
| COL4A6collagen type IV alpha 6 chain | Noen ganger (5–29 %) | I 1 tilstand |
| COX7Bcytochrome c oxidase subunit 7B | Noen ganger (5–29 %) | I 1 tilstand |
| CREBBPCREB binding lysine acetyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| CRELD1CRELD disulfide isomerase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CRYBA2crystallin beta A2 | Noen ganger (5–29 %) | I 1 tilstand |
| CSPP1centrosome and spindle pole associated protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CTNNB1catenin beta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CYP1B1cytochrome P450 family 1 subfamily B member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DBR1debranching RNA lariats 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Noen ganger (5–29 %) | I 1 tilstand |
| DPF2double PHD fingers 2 | Noen ganger (5–29 %) | I 1 tilstand |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Noen ganger (5–29 %) | I 2 tilstander |
| EBF3EBF transcription factor 3 | Noen ganger (5–29 %) | I 1 tilstand |
| EIF4Heukaryotic translation initiation factor 4H | Noen ganger (5–29 %) | I 1 tilstand |
| ELNelastin | Noen ganger (5–29 %) | I 1 tilstand |
| ELP1elongator acetyltransferase complex subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| EMC1ER membrane protein complex subunit 1 | Noen ganger (5–29 %) | I 2 tilstander |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Noen ganger (5–29 %) | I 1 tilstand |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Noen ganger (5–29 %) | I 1 tilstand |
| FBXW11F-box and WD repeat domain containing 11 | Noen ganger (5–29 %) | I 1 tilstand |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Noen ganger (5–29 %) | I 1 tilstand |
| FN1fibronectin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| FZD4frizzled class receptor 4 | Noen ganger (5–29 %) | I 1 tilstand |
| GPR143G protein-coupled receptor 143 | Noen ganger (5–29 %) | I 1 tilstand |
| GRK1G protein-coupled receptor kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GTF2E2general transcription factor IIE subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| GTF2H5general transcription factor IIH subunit 5 | Noen ganger (5–29 %) | I 1 tilstand |
| GTF2Igeneral transcription factor IIi | Noen ganger (5–29 %) | I 1 tilstand |
| GTF2IRD1GTF2I repeat domain containing 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GTF2IRD2GTF2I repeat domain containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Noen ganger (5–29 %) | I 1 tilstand |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Noen ganger (5–29 %) | I 2 tilstander |
| IFT122intraflagellar transport 122 | Noen ganger (5–29 %) | I 2 tilstander |
| IFT43intraflagellar transport 43 | Noen ganger (5–29 %) | I 1 tilstand |
| IFT52intraflagellar transport 52 | Noen ganger (5–29 %) | I 1 tilstand |
| IGF1insulin like growth factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| IPO8importin 8 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNE5potassium voltage-gated channel subfamily E regulatory subunit 5 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNJ13potassium inwardly rectifying channel subfamily J member 13 | Noen ganger (5–29 %) | I 1 tilstand |
| KDM5Clysine demethylase 5C | Noen ganger (5–29 %) | I 1 tilstand |
| KIAA0586KIAA0586 | Noen ganger (5–29 %) | I 1 tilstand |
| LAMB2laminin subunit beta 2 | Noen ganger (5–29 %) | I 1 tilstand |
| LCA5lebercilin LCA5 | Noen ganger (5–29 %) | I 1 tilstand |
| LIMK1LIM domain kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| LOXlysyl oxidase | Noen ganger (5–29 %) | I 1 tilstand |
| LRATlecithin retinol acyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| LRP5LDL receptor related protein 5 | Noen ganger (5–29 %) | I 1 tilstand |
| LTBP2latent transforming growth factor beta binding protein 2 | Noen ganger (5–29 %) | I 2 tilstander |
| LTBP3latent transforming growth factor beta binding protein 3 | Noen ganger (5–29 %) | I 1 tilstand |
| MADDMAP kinase activating death domain | Noen ganger (5–29 %) | I 1 tilstand |
| MAGEL2MAGE family member L2 | Noen ganger (5–29 %) | I 3 tilstander |
| MARK2microtubule affinity regulating kinase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MED12Lmediator complex subunit 12L | Noen ganger (5–29 %) | I 1 tilstand |
| MED13Lmediator complex subunit 13L | Noen ganger (5–29 %) | I 1 tilstand |
| METTL27methyltransferase like 27 | Noen ganger (5–29 %) | I 1 tilstand |
| MKRN3makorin ring finger protein 3 | Noen ganger (5–29 %) | I 1 tilstand |
| MPLKIPM-phase specific PLK1 interacting protein | Noen ganger (5–29 %) | I 1 tilstand |
| MSX2msh homeobox 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MYOCmyocilin | Noen ganger (5–29 %) | I 2 tilstander |
| NCF1neutrophil cytosolic factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NDPnorrin cystine knot growth factor NDP | Noen ganger (5–29 %) | I 1 tilstand |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Noen ganger (5–29 %) | I 1 tilstand |
| NOTCH2notch receptor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| NPAP1nuclear pore associated protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NPR3natriuretic peptide receptor 3 | Noen ganger (5–29 %) | I 1 tilstand |
| NRASNRAS proto-oncogene, GTPase | Noen ganger (5–29 %) | I 1 tilstand |
| NT5C25'-nucleotidase, cytosolic II | Noen ganger (5–29 %) | I 2 tilstander |
| OTX2orthodenticle homeobox 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PACS2phosphofurin acidic cluster sorting protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Noen ganger (5–29 %) | I 1 tilstand |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Noen ganger (5–29 %) | I 2 tilstander |
| PMM2phosphomannomutase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PNPLA6patatin like domain 6, lysophospholipase | Noen ganger (5–29 %) | I 1 tilstand |
| POGZpogo transposable element derived with ZNF domain | Noen ganger (5–29 %) | I 2 tilstander |
| POMKprotein O-mannose kinase | Noen ganger (5–29 %) | I 1 tilstand |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Noen ganger (5–29 %) | I 1 tilstand |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Noen ganger (5–29 %) | I 1 tilstand |
| PRPH2peripherin 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PSAPprosaposin | Noen ganger (5–29 %) | I 1 tilstand |
| PTBP1polypyrimidine tract binding protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PUF60poly(U) binding splicing factor 60 | Noen ganger (5–29 %) | I 1 tilstand |
| PURApurine rich element binding protein A | Noen ganger (5–29 %) | I 1 tilstand |
| PWAR1Prader Willi/Angelman region RNA 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PWRN1Prader-Willi region non-protein coding RNA 1 | Noen ganger (5–29 %) | I 1 tilstand |
| RBM10RNA binding motif protein 10 | Noen ganger (5–29 %) | I 1 tilstand |
| REREarginine-glutamic acid dipeptide repeats | Noen ganger (5–29 %) | I 1 tilstand |
| RFC2replication factor C subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| RNF113Aring finger protein 113A | Noen ganger (5–29 %) | I 1 tilstand |
| RNU4-2RNA, U4 small nuclear 2 | Noen ganger (5–29 %) | I 1 tilstand |
| RPE65retinoid isomerohydrolase RPE65 | Noen ganger (5–29 %) | I 1 tilstand |
| RPL10ribosomal protein L10 | Noen ganger (5–29 %) | I 1 tilstand |
| SAGS-antigen visual arrestin | Noen ganger (5–29 %) | I 1 tilstand |
| SETBP1SET binding protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Noen ganger (5–29 %) | I 1 tilstand |
| SKISKI proto-oncogene | Noen ganger (5–29 %) | I 2 tilstander |
| SLC12A6solute carrier family 12 member 6 | Noen ganger (5–29 %) | I 1 tilstand |
| SMAD2SMAD family member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SMAD3SMAD family member 3 | Noen ganger (5–29 %) | I 1 tilstand |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Noen ganger (5–29 %) | I 1 tilstand |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Noen ganger (5–29 %) | I 1 tilstand |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Noen ganger (5–29 %) | I 1 tilstand |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Noen ganger (5–29 %) | I 1 tilstand |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Noen ganger (5–29 %) | I 1 tilstand |
| SNORD115-1small nucleolar RNA, C/D box 115-1 | Noen ganger (5–29 %) | I 1 tilstand |
| SNORD116-1small nucleolar RNA, C/D box 116-1 | Noen ganger (5–29 %) | I 1 tilstand |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Noen ganger (5–29 %) | I 1 tilstand |
| SONSON DNA and RNA binding protein | Noen ganger (5–29 %) | I 1 tilstand |
| SOX11SRY-box transcription factor 11 | Noen ganger (5–29 %) | I 1 tilstand |
| SOX4SRY-box transcription factor 4 | Noen ganger (5–29 %) | I 1 tilstand |
| SOX9SRY-box transcription factor 9 | Noen ganger (5–29 %) | I 1 tilstand |
| SPATA7spermatogenesis associated 7 | Noen ganger (5–29 %) | I 1 tilstand |
| STX1Asyntaxin 1A | Noen ganger (5–29 %) | I 1 tilstand |
| TARS1threonyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TBC1D24TBC1 domain family member 24 | Noen ganger (5–29 %) | I 1 tilstand |
| TBL2transducin beta like 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TEKTEK receptor tyrosine kinase | Noen ganger (5–29 %) | I 1 tilstand |
| TFAP2Btranscription factor AP-2 beta | Noen ganger (5–29 %) | I 1 tilstand |
| TGFB2transforming growth factor beta 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TGFB3transforming growth factor beta 3 | Noen ganger (5–29 %) | I 1 tilstand |
| TGFBR1transforming growth factor beta receptor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TGFBR2transforming growth factor beta receptor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TMEM270transmembrane protein 270 | Noen ganger (5–29 %) | I 1 tilstand |
| TNPO2transportin 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TRA2Btransformer 2 beta homolog | Noen ganger (5–29 %) | I 1 tilstand |
| TRAPPC11trafficking protein particle complex subunit 11 | Noen ganger (5–29 %) | I 2 tilstander |
| USP7ubiquitin specific peptidase 7 | Noen ganger (5–29 %) | I 1 tilstand |
| USP9Xubiquitin specific peptidase 9 X-linked | Noen ganger (5–29 %) | I 2 tilstander |
| VPS37DVPS37D subunit of ESCRT-I | Noen ganger (5–29 %) | I 1 tilstand |
| WACWW domain containing adaptor with coiled-coil | Noen ganger (5–29 %) | I 2 tilstander |
| WDR26WD repeat domain 26 | Noen ganger (5–29 %) | I 2 tilstander |
| WDR35WD repeat domain 35 | Noen ganger (5–29 %) | I 1 tilstand |
| XYLT1xylosyltransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| XYLT2xylosyltransferase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ZEB2zinc finger E-box binding homeobox 2 | Noen ganger (5–29 %) | I 2 tilstander |
| APC2APC regulator of Wnt signaling pathway 2 | Sjelden (1–4%) | I 1 tilstand |
| MYT1Lmyelin transcription factor 1 like | Sjelden (1–4%) | I 1 tilstand |
| NALCNsodium leak channel, non-selective | Sjelden (1–4%) | I 1 tilstand |
| NR2F1nuclear receptor subfamily 2 group F member 1 | Sjelden (1–4%) | I 1 tilstand |
| ABCC6ATP binding cassette subfamily C member 6 | Ikke registrert | I 1 tilstand |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Ikke registrert | I 1 tilstand |
| AP1B1adaptor related protein complex 1 subunit beta 1 | Ikke registrert | I 1 tilstand |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Ikke registrert | I 1 tilstand |
| B3GLCTbeta 3-glucosyltransferase | Ikke registrert | I 1 tilstand |
| BFSP2beaded filament structural protein 2 | Ikke registrert | I 1 tilstand |
| BLOC1S3biogenesis of lysosomal organelles complex 1 subunit 3 | Ikke registrert | I 1 tilstand |
| C12orf57chromosome 12 open reading frame 57 | Ikke registrert | I 1 tilstand |
| CANT1calcium activated nucleotidase 1 | Ikke registrert | I 1 tilstand |
| CFAP418cilia and flagella associated protein 418 | Ikke registrert | I 1 tilstand |
| COL4A1collagen type IV alpha 1 chain | Ikke registrert | I 1 tilstand |
| COL4A3collagen type IV alpha 3 chain | Ikke registrert | I 2 tilstander |
| COL4A4collagen type IV alpha 4 chain | Ikke registrert | I 2 tilstander |
| COL5A1collagen type V alpha 1 chain | Ikke registrert | I 1 tilstand |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Ikke registrert | I 1 tilstand |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Ikke registrert | I 1 tilstand |
| EPHA2EPH receptor A2 | Ikke registrert | I 1 tilstand |
| FBN2fibrillin 2 | Ikke registrert | I 1 tilstand |
| GJC2gap junction protein gamma 2 | Ikke registrert | I 1 tilstand |
| GLE1GLE1 RNA export mediator | Ikke registrert | I 1 tilstand |
| GLRBglycine receptor beta | Ikke registrert | I 1 tilstand |
| HTThuntingtin | Ikke registrert | I 1 tilstand |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Ikke registrert | I 1 tilstand |
| IFIH1interferon induced with helicase C domain 1 | Ikke registrert | I 1 tilstand |
| JAG1jagged canonical Notch ligand 1 | Ikke registrert | I 1 tilstand |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Ikke registrert | I 1 tilstand |
| KCNV2potassium voltage-gated channel modifier subfamily V member 2 | Ikke registrert | I 1 tilstand |
| MBD5methyl-CpG binding domain protein 5 | Ikke registrert | I 1 tilstand |
| MC1Rmelanocortin 1 receptor | Ikke registrert | I 1 tilstand |
| OCA2OCA2 melanosomal transmembrane protein | Ikke registrert | I 1 tilstand |
| OPTNoptineurin | Ikke registrert | I 1 tilstand |
| PACS1phosphofurin acidic cluster sorting protein 1 | Ikke registrert | I 1 tilstand |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Ikke registrert | I 1 tilstand |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Ikke registrert | I 1 tilstand |
| RECQL4RecQ like helicase 4 | Ikke registrert | I 1 tilstand |
| RP1RP1 axonemal microtubule associated | Ikke registrert | I 1 tilstand |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Ikke registrert | I 1 tilstand |
| SRCAPSnf2 related CREBBP activator protein | Ikke registrert | I 1 tilstand |
| TCF20transcription factor 20 | Ikke registrert | I 1 tilstand |
| TDO2tryptophan 2,3-dioxygenase | Ikke registrert | I 1 tilstand |
| TEAD1TEA domain transcription factor 1 | Ikke registrert | I 1 tilstand |
| TFAP2Atranscription factor AP-2 alpha | Ikke registrert | I 1 tilstand |
| THG1LtRNA-histidine guanylyltransferase 1 like | Ikke registrert | I 1 tilstand |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Ikke registrert | I 1 tilstand |
| TMEM94transmembrane protein 94 | Ikke registrert | I 1 tilstand |
| TRIT1tRNA isopentenyltransferase 1 | Ikke registrert | I 1 tilstand |
| TRNT1tRNA nucleotidyl transferase 1 | Ikke registrert | I 1 tilstand |
| TYRtyrosinase | Ikke registrert | I 1 tilstand |
| UBE3Aubiquitin protein ligase E3A | Ikke registrert | I 1 tilstand |
| UCHL1ubiquitin C-terminal hydrolase L1 | Ikke registrert | I 1 tilstand |
| ZNF469zinc finger protein 469 | 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.
Fra 449 $Gratis frakt · Resultater på 6–8 uker