Požymis
Close sighted
Klinikinis pavadinimas: Myopia
An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.
Santrauka
- Taip pat vadinama
- Near sighted, Near sightedness, Nearsightedness
- Kūno sistema
- Abnormality of the eye
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
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Įsigyti savo Genome Test409 genų susiję su Close sighted
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Close sighted. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| ADAMTS18ADAM metallopeptidase with thrombospondin type 1 motif 18 | Visada | 1 ligoje |
| B3GALT6beta-1,3-galactosyltransferase 6 | Visada | 2 ligose |
| CACNA1Fcalcium voltage-gated channel subunit alpha1 F | Visada | 3 ligose |
| CAMK2Gcalcium/calmodulin dependent protein kinase II gamma | Visada | 1 ligoje |
| COL11A1collagen type XI alpha 1 chain | Visada | 4 ligose |
| COL2A1collagen type II alpha 1 chain | Visada | 14 ligose |
| COL9A1collagen type IX alpha 1 chain | Visada | 2 ligose |
| COPZ1coat protein complex I subunit zeta 1 | Visada | 1 ligoje |
| CRNKL1crooked neck pre-mRNA splicing factor 1 | Visada | 1 ligoje |
| EEDembryonic ectoderm development | Visada | 1 ligoje |
| ERI1exoribonuclease 1 | Visada | 1 ligoje |
| EXOSC2exosome component 2 | Visada | 1 ligoje |
| GNPTGN-acetylglucosamine-1-phosphate transferase subunit gamma | Visada | 1 ligoje |
| IFT27intraflagellar transport 27 | Visada | 1 ligoje |
| INTS11integrator complex subunit 11 | Visada | 1 ligoje |
| KDM2Blysine demethylase 2B | Visada | 1 ligoje |
| KDM6Blysine demethylase 6B | Visada | 1 ligoje |
| LRRC32leucine rich repeat containing 32 | Visada | 1 ligoje |
| MAP2K2mitogen-activated protein kinase kinase 2 | Visada | 3 ligose |
| MSL2MSL complex subunit 2 | Visada | 1 ligoje |
| NHEJ1non-homologous end joining factor 1 | Visada | 1 ligoje |
| NOS3nitric oxide synthase 3 | Visada | 1 ligoje |
| NR6A1nuclear receptor subfamily 6 group A member 1 | Visada | 1 ligoje |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Visada | 1 ligoje |
| PEX11Bperoxisomal biogenesis factor 11 beta | Visada | 1 ligoje |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Visada | 1 ligoje |
| PLOD3procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | Visada | 1 ligoje |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Visada | 4 ligose |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Visada | 2 ligose |
| RFC4replication factor C subunit 4 | Visada | 1 ligoje |
| RP2RP2 activator of ARL3 GTPase | Visada | 1 ligoje |
| RPGRIP1RPGR interacting protein 1 | Visada | 2 ligose |
| SPTSSAserine palmitoyltransferase small subunit A | Visada | 1 ligoje |
| TBC1D7TBC1 domain family member 7 | Visada | 1 ligoje |
| TMEM216transmembrane protein 216 | Visada | 1 ligoje |
| TSPAN7tetraspanin 7 | Visada | 1 ligoje |
| TUBTUB bipartite transcription factor | Visada | 1 ligoje |
| UBAP2Lubiquitin associated protein 2 like | Visada | 1 ligoje |
| VPS13Bvacuolar protein sorting 13 homolog B | Visada | 2 ligose |
| WDR19WD repeat domain 19 | Visada | 2 ligose |
Rodyti dar 369 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| ZFXzinc finger protein X-linked | Visada | 1 ligoje |
| ZMYM3zinc finger MYM-type containing 3 | Visada | 1 ligoje |
| ASXL1ASXL transcriptional regulator 1 | Labai dažnai (80–99%) | 1 ligoje |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Labai dažnai (80–99%) | 2 ligose |
| BMP4bone morphogenetic protein 4 | Labai dažnai (80–99%) | 3 ligose |
| CHMCHM Rab escort protein | Labai dažnai (80–99%) | 1 ligoje |
| CLDN19claudin 19 | Labai dažnai (80–99%) | 2 ligose |
| COL18A1collagen type XVIII alpha 1 chain | Labai dažnai (80–99%) | 1 ligoje |
| CRPPACDP-L-ribitol pyrophosphorylase A | Labai dažnai (80–99%) | 1 ligoje |
| DPYDdihydropyrimidine dehydrogenase | Labai dažnai (80–99%) | 2 ligose |
| FKRPfukutin related protein | Labai dažnai (80–99%) | 5 ligose |
| FKTNfukutin | Labai dažnai (80–99%) | 4 ligose |
| GMPPBGDP-mannose pyrophosphorylase B | Labai dažnai (80–99%) | 3 ligose |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Labai dažnai (80–99%) | 3 ligose |
| LRP2LDL receptor related protein 2 | Labai dažnai (80–99%) | 1 ligoje |
| OATornithine aminotransferase | Labai dažnai (80–99%) | 2 ligose |
| PAK2p21 (RAC1) activated kinase 2 | Labai dažnai (80–99%) | 1 ligoje |
| POMT1protein O-mannosyltransferase 1 | Labai dažnai (80–99%) | 5 ligose |
| POMT2protein O-mannosyltransferase 2 | Labai dažnai (80–99%) | 6 ligose |
| PRDM5PR/SET domain 5 | Labai dažnai (80–99%) | 1 ligoje |
| PTENphosphatase and tensin homolog | Labai dažnai (80–99%) | 3 ligose |
| TCF4transcription factor 4 | Labai dažnai (80–99%) | 2 ligose |
| TRPM1transient receptor potential cation channel subfamily M member 1 | Labai dažnai (80–99%) | 1 ligoje |
| TULP1TUB like protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| ACOX1acyl-CoA oxidase 1 | Dažnai (30–79%) | 1 ligoje |
| ADAMTS2ADAM metallopeptidase with thrombospondin type 1 motif 2 | Dažnai (30–79%) | 2 ligose |
| ADAMTSL1ADAMTS like 1 | Dažnai (30–79%) | 1 ligoje |
| ADAMTSL2ADAMTS like 2 | Dažnai (30–79%) | 2 ligose |
| ADGRV1adhesion G protein-coupled receptor V1 | Dažnai (30–79%) | 1 ligoje |
| AGBL5AGBL carboxypeptidase 5 | Dažnai (30–79%) | 1 ligoje |
| AGKacylglycerol kinase | Dažnai (30–79%) | 2 ligose |
| ARID1BAT-rich interaction domain 1B | Dažnai (30–79%) | 2 ligose |
| ARL6ARF like GTPase 6 | Dažnai (30–79%) | 1 ligoje |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Dažnai (30–79%) | 1 ligoje |
| ATAD3AATPase family AAA domain containing 3A | Dažnai (30–79%) | 2 ligose |
| ATF6activating transcription factor 6 | Dažnai (30–79%) | 1 ligoje |
| B4GALT1beta-1,4-galactosyltransferase 1 | Dažnai (30–79%) | 1 ligoje |
| BBS1Bardet-Biedl syndrome 1 | Dažnai (30–79%) | 1 ligoje |
| BPTFbromodomain PHD finger transcription factor | Dažnai (30–79%) | 1 ligoje |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Dažnai (30–79%) | 3 ligose |
| BRD4bromodomain containing 4 | Dažnai (30–79%) | 1 ligoje |
| CAMTA1calmodulin binding transcription activator 1 | Dažnai (30–79%) | 1 ligoje |
| CASKcalcium/calmodulin dependent serine protein kinase | Dažnai (30–79%) | 1 ligoje |
| CBScystathionine beta-synthase | Dažnai (30–79%) | 2 ligose |
| CCDC28Bcoiled-coil domain containing 28B | Dažnai (30–79%) | 1 ligoje |
| CDK8cyclin dependent kinase 8 | Dažnai (30–79%) | 1 ligoje |
| CHST14carbohydrate sulfotransferase 14 | Dažnai (30–79%) | 2 ligose |
| CNGA3cyclic nucleotide gated channel subunit alpha 3 | Dažnai (30–79%) | 1 ligoje |
| CNGB3cyclic nucleotide gated channel subunit beta 3 | Dažnai (30–79%) | 1 ligoje |
| COL1A2collagen type I alpha 2 chain | Dažnai (30–79%) | 2 ligose |
| COL9A2collagen type IX alpha 2 chain | Dažnai (30–79%) | 1 ligoje |
| COL9A3collagen type IX alpha 3 chain | Dažnai (30–79%) | 1 ligoje |
| CRYAAcrystallin alpha A | Dažnai (30–79%) | 1 ligoje |
| CRYBA4crystallin beta A4 | Dažnai (30–79%) | 1 ligoje |
| CRYBB1crystallin beta B1 | Dažnai (30–79%) | 1 ligoje |
| CRYBB2crystallin beta B2 | Dažnai (30–79%) | 1 ligoje |
| CRYGCcrystallin gamma C | Dažnai (30–79%) | 1 ligoje |
| CRYGDcrystallin gamma D | Dažnai (30–79%) | 1 ligoje |
| DSEdermatan sulfate epimerase | Dažnai (30–79%) | 1 ligoje |
| EXOSC5exosome component 5 | Dažnai (30–79%) | 1 ligoje |
| FANCIFA complementation group I | Dažnai (30–79%) | 1 ligoje |
| FBN1fibrillin 1 | Dažnai (30–79%) | 5 ligose |
| FGFR2fibroblast growth factor receptor 2 | Dažnai (30–79%) | 1 ligoje |
| FKBP14FKBP prolyl isomerase 14 | Dažnai (30–79%) | 2 ligose |
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Dažnai (30–79%) | 1 ligoje |
| GJA1gap junction protein alpha 1 | Dažnai (30–79%) | 2 ligose |
| GJA8gap junction protein alpha 8 | Dažnai (30–79%) | 1 ligoje |
| GNAT2G protein subunit alpha transducin 2 | Dažnai (30–79%) | 1 ligoje |
| GPAA1glycosylphosphatidylinositol anchor attachment 1 | Dažnai (30–79%) | 2 ligose |
| GPR156G protein-coupled receptor 156 | Dažnai (30–79%) | 1 ligoje |
| GRM6glutamate metabotropic receptor 6 | Dažnai (30–79%) | 1 ligoje |
| GTPBP2GTP binding protein 2 | Dažnai (30–79%) | 1 ligoje |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Dažnai (30–79%) | 2 ligose |
| HDAC8histone deacetylase 8 | Dažnai (30–79%) | 2 ligose |
| HRASHRas proto-oncogene, GTPase | Dažnai (30–79%) | 1 ligoje |
| HSPG2heparan sulfate proteoglycan 2 | Dažnai (30–79%) | 2 ligose |
| HYAL2hyaluronidase 2 | Dažnai (30–79%) | 1 ligoje |
| KAT6Alysine acetyltransferase 6A | Dažnai (30–79%) | 1 ligoje |
| KDM5Blysine demethylase 5B | Dažnai (30–79%) | 1 ligoje |
| KIF11kinesin family member 11 | Dažnai (30–79%) | 2 ligose |
| KRASKRas proto-oncogene, GTPase | Dažnai (30–79%) | 3 ligose |
| LAMA1laminin subunit alpha 1 | Dažnai (30–79%) | 2 ligose |
| LAMP2lysosome associated membrane protein 2 | Dažnai (30–79%) | 1 ligoje |
| LOXL3lysyl oxidase like 3 | Dažnai (30–79%) | 1 ligoje |
| LRRC8Cleucine rich repeat containing 8 VRAC subunit C | Dažnai (30–79%) | 1 ligoje |
| MAFMAF bZIP transcription factor | Dažnai (30–79%) | 1 ligoje |
| MAN2B1mannosidase alpha class 2B member 1 | Dažnai (30–79%) | 2 ligose |
| MAP2K1mitogen-activated protein kinase kinase 1 | Dažnai (30–79%) | 3 ligose |
| MAU2MAU2 sister chromatid cohesion factor | Dažnai (30–79%) | 2 ligose |
| MYO1Hmyosin IH | Dažnai (30–79%) | 1 ligoje |
| MYO5Amyosin VA | Dažnai (30–79%) | 1 ligoje |
| MYO7Amyosin VIIA | Dažnai (30–79%) | 1 ligoje |
| NBASNBAS subunit of NRZ tethering complex | Dažnai (30–79%) | 1 ligoje |
| NDRG1N-myc downstream regulated 1 | Dažnai (30–79%) | 1 ligoje |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Dažnai (30–79%) | 1 ligoje |
| NFIXnuclear factor I X | Dažnai (30–79%) | 2 ligose |
| NIPBLNIPBL cohesin loading factor | Dažnai (30–79%) | 2 ligose |
| NONOnon-POU domain containing octamer binding | Dažnai (30–79%) | 2 ligose |
| NSD1nuclear receptor binding SET domain protein 1 | Dažnai (30–79%) | 2 ligose |
| OPN1LWopsin 1, long wave sensitive | Dažnai (30–79%) | 2 ligose |
| OPN1MWopsin 1, medium wave sensitive | Dažnai (30–79%) | 2 ligose |
| PAX2paired box 2 | Dažnai (30–79%) | 1 ligoje |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Dažnai (30–79%) | 1 ligoje |
| PDE6Cphosphodiesterase 6C | Dažnai (30–79%) | 1 ligoje |
| PDE6Hphosphodiesterase 6H | Dažnai (30–79%) | 1 ligoje |
| PDZD7PDZ domain containing 7 | Dažnai (30–79%) | 1 ligoje |
| PDZD8PDZ domain containing 8 | Dažnai (30–79%) | 1 ligoje |
| POLR1CRNA polymerase I and III subunit C | Dažnai (30–79%) | 1 ligoje |
| POLR3ARNA polymerase III subunit A | Dažnai (30–79%) | 3 ligose |
| POLR3BRNA polymerase III subunit B | Dažnai (30–79%) | 2 ligose |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Dažnai (30–79%) | 1 ligoje |
| PRR12proline rich 12 | Dažnai (30–79%) | 1 ligoje |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Dažnai (30–79%) | 1 ligoje |
| RAD21RAD21 cohesin complex component | Dažnai (30–79%) | 1 ligoje |
| RAI1retinoic acid induced 1 | Dažnai (30–79%) | 2 ligose |
| RHOAras homolog family member A | Dažnai (30–79%) | 1 ligoje |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Dažnai (30–79%) | 1 ligoje |
| RNU5B-1RNA, U5B small nuclear 1 | Dažnai (30–79%) | 1 ligoje |
| RPGRretinitis pigmentosa GTPase regulator | Dažnai (30–79%) | 2 ligose |
| SETD5SET domain containing 5 | Dažnai (30–79%) | 1 ligoje |
| SLC25A4solute carrier family 25 member 4 | Dažnai (30–79%) | 1 ligoje |
| SLC2A10solute carrier family 2 member 10 | Dažnai (30–79%) | 2 ligose |
| SMC1Astructural maintenance of chromosomes 1A | Dažnai (30–79%) | 1 ligoje |
| SMC3structural maintenance of chromosomes 3 | Dažnai (30–79%) | 2 ligose |
| SOX10SRY-box transcription factor 10 | Dažnai (30–79%) | 1 ligoje |
| SOX5SRY-box transcription factor 5 | Dažnai (30–79%) | 2 ligose |
| TAF1TATA-box binding protein associated factor 1 | Dažnai (30–79%) | 1 ligoje |
| TFE3transcription factor binding to IGHM enhancer 3 | Dažnai (30–79%) | 1 ligoje |
| THOC6THO complex subunit 6 | Dažnai (30–79%) | 1 ligoje |
| TKFCtriokinase and FMN cyclase | Dažnai (30–79%) | 1 ligoje |
| TLK2tousled like kinase 2 | Dažnai (30–79%) | 1 ligoje |
| TMEM63Atransmembrane protein 63A | Dažnai (30–79%) | 1 ligoje |
| TWIST2twist family bHLH transcription factor 2 | Dažnai (30–79%) | 1 ligoje |
| UBE3Bubiquitin protein ligase E3B | Dažnai (30–79%) | 2 ligose |
| UNC119unc-119 lipid binding chaperone | Dažnai (30–79%) | 1 ligoje |
| USH2Ausherin | Dažnai (30–79%) | 1 ligoje |
| VARS1valyl-tRNA synthetase 1 | Dažnai (30–79%) | 1 ligoje |
| VCANversican | Dažnai (30–79%) | 2 ligose |
| WHRNwhirlin | Dažnai (30–79%) | 1 ligoje |
| YME1L1YME1 like 1 ATPase | Dažnai (30–79%) | 1 ligoje |
| ZNF408zinc finger protein 408 | Dažnai (30–79%) | 1 ligoje |
| ZSWIM6zinc finger SWIM-type containing 6 | Dažnai (30–79%) | 2 ligose |
| AARS1alanyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| ACSL4acyl-CoA synthetase long chain family member 4 | Kartais (5–29%) | 1 ligoje |
| AEBP1AE binding protein 1 | Kartais (5–29%) | 1 ligoje |
| AFF4ALF transcription elongation factor 4 | Kartais (5–29%) | 1 ligoje |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Kartais (5–29%) | 1 ligoje |
| AKT1AKT serine/threonine kinase 1 | Kartais (5–29%) | 1 ligoje |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Kartais (5–29%) | 1 ligoje |
| ALMS1ALMS1 centrosome and basal body associated protein | Kartais (5–29%) | 1 ligoje |
| AMMECR1AMMECR nuclear protein 1 | Kartais (5–29%) | 1 ligoje |
| AMOTL1angiomotin like 1 | Kartais (5–29%) | 1 ligoje |
| ANKRD11ankyrin repeat domain 11 | Kartais (5–29%) | 1 ligoje |
| ANTXR1ANTXR cell adhesion molecule 1 | Kartais (5–29%) | 1 ligoje |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Kartais (5–29%) | 1 ligoje |
| ARCN1archain 1 coat protein complex I subunit delta | Kartais (5–29%) | 1 ligoje |
| ARID1AAT-rich interaction domain 1A | Kartais (5–29%) | 1 ligoje |
| ARID2AT-rich interaction domain 2 | Kartais (5–29%) | 1 ligoje |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Kartais (5–29%) | 1 ligoje |
| ATRXATRX chromatin remodeler | Kartais (5–29%) | 1 ligoje |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Kartais (5–29%) | 1 ligoje |
| BCL11BBCL11 transcription factor B | Kartais (5–29%) | 1 ligoje |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Kartais (5–29%) | 1 ligoje |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Kartais (5–29%) | 1 ligoje |
| CABP4calcium binding protein 4 | Kartais (5–29%) | 1 ligoje |
| CAPRIN1cell cycle associated protein 1 | Kartais (5–29%) | 1 ligoje |
| CARS1cysteinyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| CCNQcyclin Q | Kartais (5–29%) | 1 ligoje |
| CDC45cell division cycle 45 | Kartais (5–29%) | 1 ligoje |
| CHD6chromodomain helicase DNA binding protein 6 | Kartais (5–29%) | 1 ligoje |
| CHMP1Acharged multivesicular body protein 1A | Kartais (5–29%) | 1 ligoje |
| CILK1ciliogenesis associated kinase 1 | Kartais (5–29%) | 1 ligoje |
| CLDN16claudin 16 | Kartais (5–29%) | 1 ligoje |
| CLIP2CAP-Gly domain containing linker protein 2 | Kartais (5–29%) | 1 ligoje |
| COL12A1collagen type XII alpha 1 chain | Kartais (5–29%) | 1 ligoje |
| COL1A1collagen type I alpha 1 chain | Kartais (5–29%) | 1 ligoje |
| COL4A5collagen type IV alpha 5 chain | Kartais (5–29%) | 3 ligose |
| COL4A6collagen type IV alpha 6 chain | Kartais (5–29%) | 1 ligoje |
| COX7Bcytochrome c oxidase subunit 7B | Kartais (5–29%) | 1 ligoje |
| CREBBPCREB binding lysine acetyltransferase | Kartais (5–29%) | 1 ligoje |
| CRELD1CRELD disulfide isomerase 1 | Kartais (5–29%) | 1 ligoje |
| CRYBA2crystallin beta A2 | Kartais (5–29%) | 1 ligoje |
| CSPP1centrosome and spindle pole associated protein 1 | Kartais (5–29%) | 1 ligoje |
| CTNNB1catenin beta 1 | Kartais (5–29%) | 1 ligoje |
| CYP1B1cytochrome P450 family 1 subfamily B member 1 | Kartais (5–29%) | 1 ligoje |
| DBR1debranching RNA lariats 1 | Kartais (5–29%) | 1 ligoje |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Kartais (5–29%) | 1 ligoje |
| DPF2double PHD fingers 2 | Kartais (5–29%) | 1 ligoje |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Kartais (5–29%) | 2 ligose |
| EBF3EBF transcription factor 3 | Kartais (5–29%) | 1 ligoje |
| EIF4Heukaryotic translation initiation factor 4H | Kartais (5–29%) | 1 ligoje |
| ELNelastin | Kartais (5–29%) | 1 ligoje |
| ELP1elongator acetyltransferase complex subunit 1 | Kartais (5–29%) | 1 ligoje |
| EMC1ER membrane protein complex subunit 1 | Kartais (5–29%) | 2 ligose |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Kartais (5–29%) | 1 ligoje |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Kartais (5–29%) | 1 ligoje |
| FBXW11F-box and WD repeat domain containing 11 | Kartais (5–29%) | 1 ligoje |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Kartais (5–29%) | 1 ligoje |
| FN1fibronectin 1 | Kartais (5–29%) | 1 ligoje |
| FZD4frizzled class receptor 4 | Kartais (5–29%) | 1 ligoje |
| GPR143G protein-coupled receptor 143 | Kartais (5–29%) | 1 ligoje |
| GRK1G protein-coupled receptor kinase 1 | Kartais (5–29%) | 1 ligoje |
| GTF2E2general transcription factor IIE subunit 2 | Kartais (5–29%) | 1 ligoje |
| GTF2H5general transcription factor IIH subunit 5 | Kartais (5–29%) | 1 ligoje |
| GTF2Igeneral transcription factor IIi | Kartais (5–29%) | 1 ligoje |
| GTF2IRD1GTF2I repeat domain containing 1 | Kartais (5–29%) | 1 ligoje |
| GTF2IRD2GTF2I repeat domain containing 2 | Kartais (5–29%) | 1 ligoje |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Kartais (5–29%) | 1 ligoje |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Kartais (5–29%) | 1 ligoje |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Kartais (5–29%) | 2 ligose |
| IFT122intraflagellar transport 122 | Kartais (5–29%) | 2 ligose |
| IFT43intraflagellar transport 43 | Kartais (5–29%) | 1 ligoje |
| IFT52intraflagellar transport 52 | Kartais (5–29%) | 1 ligoje |
| IGF1insulin like growth factor 1 | Kartais (5–29%) | 1 ligoje |
| IPO8importin 8 | Kartais (5–29%) | 1 ligoje |
| KCNE5potassium voltage-gated channel subfamily E regulatory subunit 5 | Kartais (5–29%) | 1 ligoje |
| KCNJ13potassium inwardly rectifying channel subfamily J member 13 | Kartais (5–29%) | 1 ligoje |
| KDM5Clysine demethylase 5C | Kartais (5–29%) | 1 ligoje |
| KIAA0586KIAA0586 | Kartais (5–29%) | 1 ligoje |
| LAMB2laminin subunit beta 2 | Kartais (5–29%) | 1 ligoje |
| LCA5lebercilin LCA5 | Kartais (5–29%) | 1 ligoje |
| LIMK1LIM domain kinase 1 | Kartais (5–29%) | 1 ligoje |
| LOXlysyl oxidase | Kartais (5–29%) | 1 ligoje |
| LRATlecithin retinol acyltransferase | Kartais (5–29%) | 1 ligoje |
| LRP5LDL receptor related protein 5 | Kartais (5–29%) | 1 ligoje |
| LTBP2latent transforming growth factor beta binding protein 2 | Kartais (5–29%) | 2 ligose |
| LTBP3latent transforming growth factor beta binding protein 3 | Kartais (5–29%) | 1 ligoje |
| MADDMAP kinase activating death domain | Kartais (5–29%) | 1 ligoje |
| MAGEL2MAGE family member L2 | Kartais (5–29%) | 3 ligose |
| MARK2microtubule affinity regulating kinase 2 | Kartais (5–29%) | 1 ligoje |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Kartais (5–29%) | 1 ligoje |
| MED12Lmediator complex subunit 12L | Kartais (5–29%) | 1 ligoje |
| MED13Lmediator complex subunit 13L | Kartais (5–29%) | 1 ligoje |
| METTL27methyltransferase like 27 | Kartais (5–29%) | 1 ligoje |
| MKRN3makorin ring finger protein 3 | Kartais (5–29%) | 1 ligoje |
| MPLKIPM-phase specific PLK1 interacting protein | Kartais (5–29%) | 1 ligoje |
| MSX2msh homeobox 2 | Kartais (5–29%) | 1 ligoje |
| MYOCmyocilin | Kartais (5–29%) | 2 ligose |
| NCF1neutrophil cytosolic factor 1 | Kartais (5–29%) | 1 ligoje |
| NDPnorrin cystine knot growth factor NDP | Kartais (5–29%) | 1 ligoje |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Kartais (5–29%) | 1 ligoje |
| NOTCH2notch receptor 2 | Kartais (5–29%) | 1 ligoje |
| NPAP1nuclear pore associated protein 1 | Kartais (5–29%) | 1 ligoje |
| NPR3natriuretic peptide receptor 3 | Kartais (5–29%) | 1 ligoje |
| NRASNRAS proto-oncogene, GTPase | Kartais (5–29%) | 1 ligoje |
| NT5C25'-nucleotidase, cytosolic II | Kartais (5–29%) | 2 ligose |
| OTX2orthodenticle homeobox 2 | Kartais (5–29%) | 1 ligoje |
| PACS2phosphofurin acidic cluster sorting protein 2 | Kartais (5–29%) | 1 ligoje |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Kartais (5–29%) | 1 ligoje |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Kartais (5–29%) | 1 ligoje |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Kartais (5–29%) | 2 ligose |
| PMM2phosphomannomutase 2 | Kartais (5–29%) | 1 ligoje |
| PNPLA6patatin like domain 6, lysophospholipase | Kartais (5–29%) | 1 ligoje |
| POGZpogo transposable element derived with ZNF domain | Kartais (5–29%) | 2 ligose |
| POMKprotein O-mannose kinase | Kartais (5–29%) | 1 ligoje |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Kartais (5–29%) | 1 ligoje |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Kartais (5–29%) | 1 ligoje |
| PRPH2peripherin 2 | Kartais (5–29%) | 1 ligoje |
| PSAPprosaposin | Kartais (5–29%) | 1 ligoje |
| PTBP1polypyrimidine tract binding protein 1 | Kartais (5–29%) | 1 ligoje |
| PUF60poly(U) binding splicing factor 60 | Kartais (5–29%) | 1 ligoje |
| PURApurine rich element binding protein A | Kartais (5–29%) | 1 ligoje |
| PWAR1Prader Willi/Angelman region RNA 1 | Kartais (5–29%) | 1 ligoje |
| PWRN1Prader-Willi region non-protein coding RNA 1 | Kartais (5–29%) | 1 ligoje |
| RBM10RNA binding motif protein 10 | Kartais (5–29%) | 1 ligoje |
| REREarginine-glutamic acid dipeptide repeats | Kartais (5–29%) | 1 ligoje |
| RFC2replication factor C subunit 2 | Kartais (5–29%) | 1 ligoje |
| RNF113Aring finger protein 113A | Kartais (5–29%) | 1 ligoje |
| RNU4-2RNA, U4 small nuclear 2 | Kartais (5–29%) | 1 ligoje |
| RPE65retinoid isomerohydrolase RPE65 | Kartais (5–29%) | 1 ligoje |
| RPL10ribosomal protein L10 | Kartais (5–29%) | 1 ligoje |
| SAGS-antigen visual arrestin | Kartais (5–29%) | 1 ligoje |
| SETBP1SET binding protein 1 | Kartais (5–29%) | 1 ligoje |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Kartais (5–29%) | 1 ligoje |
| SKISKI proto-oncogene | Kartais (5–29%) | 2 ligose |
| SLC12A6solute carrier family 12 member 6 | Kartais (5–29%) | 1 ligoje |
| SMAD2SMAD family member 2 | Kartais (5–29%) | 1 ligoje |
| SMAD3SMAD family member 3 | Kartais (5–29%) | 1 ligoje |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Kartais (5–29%) | 1 ligoje |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Kartais (5–29%) | 1 ligoje |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Kartais (5–29%) | 1 ligoje |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Kartais (5–29%) | 1 ligoje |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Kartais (5–29%) | 1 ligoje |
| SNORD115-1small nucleolar RNA, C/D box 115-1 | Kartais (5–29%) | 1 ligoje |
| SNORD116-1small nucleolar RNA, C/D box 116-1 | Kartais (5–29%) | 1 ligoje |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Kartais (5–29%) | 1 ligoje |
| SONSON DNA and RNA binding protein | Kartais (5–29%) | 1 ligoje |
| SOX11SRY-box transcription factor 11 | Kartais (5–29%) | 1 ligoje |
| SOX4SRY-box transcription factor 4 | Kartais (5–29%) | 1 ligoje |
| SOX9SRY-box transcription factor 9 | Kartais (5–29%) | 1 ligoje |
| SPATA7spermatogenesis associated 7 | Kartais (5–29%) | 1 ligoje |
| STX1Asyntaxin 1A | Kartais (5–29%) | 1 ligoje |
| TARS1threonyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| TBC1D24TBC1 domain family member 24 | Kartais (5–29%) | 1 ligoje |
| TBL2transducin beta like 2 | Kartais (5–29%) | 1 ligoje |
| TEKTEK receptor tyrosine kinase | Kartais (5–29%) | 1 ligoje |
| TFAP2Btranscription factor AP-2 beta | Kartais (5–29%) | 1 ligoje |
| TGFB2transforming growth factor beta 2 | Kartais (5–29%) | 1 ligoje |
| TGFB3transforming growth factor beta 3 | Kartais (5–29%) | 1 ligoje |
| TGFBR1transforming growth factor beta receptor 1 | Kartais (5–29%) | 1 ligoje |
| TGFBR2transforming growth factor beta receptor 2 | Kartais (5–29%) | 1 ligoje |
| TMEM270transmembrane protein 270 | Kartais (5–29%) | 1 ligoje |
| TNPO2transportin 2 | Kartais (5–29%) | 1 ligoje |
| TRA2Btransformer 2 beta homolog | Kartais (5–29%) | 1 ligoje |
| TRAPPC11trafficking protein particle complex subunit 11 | Kartais (5–29%) | 2 ligose |
| USP7ubiquitin specific peptidase 7 | Kartais (5–29%) | 1 ligoje |
| USP9Xubiquitin specific peptidase 9 X-linked | Kartais (5–29%) | 2 ligose |
| VPS37DVPS37D subunit of ESCRT-I | Kartais (5–29%) | 1 ligoje |
| WACWW domain containing adaptor with coiled-coil | Kartais (5–29%) | 2 ligose |
| WDR26WD repeat domain 26 | Kartais (5–29%) | 2 ligose |
| WDR35WD repeat domain 35 | Kartais (5–29%) | 1 ligoje |
| XYLT1xylosyltransferase 1 | Kartais (5–29%) | 1 ligoje |
| XYLT2xylosyltransferase 2 | Kartais (5–29%) | 1 ligoje |
| ZEB2zinc finger E-box binding homeobox 2 | Kartais (5–29%) | 2 ligose |
| APC2APC regulator of Wnt signaling pathway 2 | Retai (1–4 %) | 1 ligoje |
| MYT1Lmyelin transcription factor 1 like | Retai (1–4 %) | 1 ligoje |
| NALCNsodium leak channel, non-selective | Retai (1–4 %) | 1 ligoje |
| NR2F1nuclear receptor subfamily 2 group F member 1 | Retai (1–4 %) | 1 ligoje |
| ABCC6ATP binding cassette subfamily C member 6 | Neužfiksuota | 1 ligoje |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Neužfiksuota | 1 ligoje |
| AP1B1adaptor related protein complex 1 subunit beta 1 | Neužfiksuota | 1 ligoje |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Neužfiksuota | 1 ligoje |
| B3GLCTbeta 3-glucosyltransferase | Neužfiksuota | 1 ligoje |
| BFSP2beaded filament structural protein 2 | Neužfiksuota | 1 ligoje |
| BLOC1S3biogenesis of lysosomal organelles complex 1 subunit 3 | Neužfiksuota | 1 ligoje |
| C12orf57chromosome 12 open reading frame 57 | Neužfiksuota | 1 ligoje |
| CANT1calcium activated nucleotidase 1 | Neužfiksuota | 1 ligoje |
| CFAP418cilia and flagella associated protein 418 | Neužfiksuota | 1 ligoje |
| COL4A1collagen type IV alpha 1 chain | Neužfiksuota | 1 ligoje |
| COL4A3collagen type IV alpha 3 chain | Neužfiksuota | 2 ligose |
| COL4A4collagen type IV alpha 4 chain | Neužfiksuota | 2 ligose |
| COL5A1collagen type V alpha 1 chain | Neužfiksuota | 1 ligoje |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Neužfiksuota | 1 ligoje |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Neužfiksuota | 1 ligoje |
| EPHA2EPH receptor A2 | Neužfiksuota | 1 ligoje |
| FBN2fibrillin 2 | Neužfiksuota | 1 ligoje |
| GJC2gap junction protein gamma 2 | Neužfiksuota | 1 ligoje |
| GLE1GLE1 RNA export mediator | Neužfiksuota | 1 ligoje |
| GLRBglycine receptor beta | Neužfiksuota | 1 ligoje |
| HTThuntingtin | Neužfiksuota | 1 ligoje |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Neužfiksuota | 1 ligoje |
| IFIH1interferon induced with helicase C domain 1 | Neužfiksuota | 1 ligoje |
| JAG1jagged canonical Notch ligand 1 | Neužfiksuota | 1 ligoje |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Neužfiksuota | 1 ligoje |
| KCNV2potassium voltage-gated channel modifier subfamily V member 2 | Neužfiksuota | 1 ligoje |
| MBD5methyl-CpG binding domain protein 5 | Neužfiksuota | 1 ligoje |
| MC1Rmelanocortin 1 receptor | Neužfiksuota | 1 ligoje |
| OCA2OCA2 melanosomal transmembrane protein | Neužfiksuota | 1 ligoje |
| OPTNoptineurin | Neužfiksuota | 1 ligoje |
| PACS1phosphofurin acidic cluster sorting protein 1 | Neužfiksuota | 1 ligoje |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Neužfiksuota | 1 ligoje |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Neužfiksuota | 1 ligoje |
| RECQL4RecQ like helicase 4 | Neužfiksuota | 1 ligoje |
| RP1RP1 axonemal microtubule associated | Neužfiksuota | 1 ligoje |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Neužfiksuota | 1 ligoje |
| SRCAPSnf2 related CREBBP activator protein | Neužfiksuota | 1 ligoje |
| TCF20transcription factor 20 | Neužfiksuota | 1 ligoje |
| TDO2tryptophan 2,3-dioxygenase | Neužfiksuota | 1 ligoje |
| TEAD1TEA domain transcription factor 1 | Neužfiksuota | 1 ligoje |
| TFAP2Atranscription factor AP-2 alpha | Neužfiksuota | 1 ligoje |
| THG1LtRNA-histidine guanylyltransferase 1 like | Neužfiksuota | 1 ligoje |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Neužfiksuota | 1 ligoje |
| TMEM94transmembrane protein 94 | Neužfiksuota | 1 ligoje |
| TRIT1tRNA isopentenyltransferase 1 | Neužfiksuota | 1 ligoje |
| TRNT1tRNA nucleotidyl transferase 1 | Neužfiksuota | 1 ligoje |
| TYRtyrosinase | Neužfiksuota | 1 ligoje |
| UBE3Aubiquitin protein ligase E3A | Neužfiksuota | 1 ligoje |
| UCHL1ubiquitin C-terminal hydrolase L1 | Neužfiksuota | 1 ligoje |
| ZNF469zinc finger protein 469 | Neužfiksuota | 1 ligoje |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
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- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
- Duomenų leidimas 2026.10.16-c6eea6bf.
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