Požymis
Glaucoma
Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.
Santrauka
- Kūno sistema
- Abnormality of the eye
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
Read the genes linked to Glaucoma, and the rest of your genome, with one test.
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Įsigyti savo Genome Test357 genų susiję su Glaucoma
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Glaucoma. 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 |
|---|---|---|
| ADAMTS10ADAM metallopeptidase with thrombospondin type 1 motif 10 | Visada | 2 ligose |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Visada | 1 ligoje |
| CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin | Visada | 2 ligose |
| COL18A1collagen type XVIII alpha 1 chain | Visada | 1 ligoje |
| FLNAfilamin A | Visada | 1 ligoje |
| GJA1gap junction protein alpha 1 | Visada | 3 ligose |
| LIM2lens intrinsic membrane protein 2 | Visada | 1 ligoje |
| MYMKmyomaker, myoblast fusion factor | Visada | 1 ligoje |
| NHEJ1non-homologous end joining factor 1 | Visada | 1 ligoje |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Visada | 4 ligose |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Visada | 2 ligose |
| PYCR1pyrroline-5-carboxylate reductase 1 | Visada | 1 ligoje |
| SLC4A4solute carrier family 4 member 4 | Visada | 1 ligoje |
| TBC1D20TBC1 domain family member 20 | Visada | 1 ligoje |
| ADAMTS17ADAM metallopeptidase with thrombospondin type 1 motif 17 | Labai dažnai (80–99%) | 2 ligose |
| ALDH1A3aldehyde dehydrogenase 1 family member A3 | Labai dažnai (80–99%) | 1 ligoje |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Labai dažnai (80–99%) | 2 ligose |
| B3GLCTbeta 3-glucosyltransferase | Labai dažnai (80–99%) | 2 ligose |
| BEST1bestrophin 1 | Labai dažnai (80–99%) | 3 ligose |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Labai dažnai (80–99%) | 1 ligoje |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Labai dažnai (80–99%) | 1 ligoje |
| BUB3BUB3 mitotic checkpoint protein | Labai dažnai (80–99%) | 1 ligoje |
| CANT1calcium activated nucleotidase 1 | Labai dažnai (80–99%) | 1 ligoje |
| CEP57centrosomal protein 57 | Labai dažnai (80–99%) | 1 ligoje |
| CRB1crumbs cell polarity complex component 1 | Labai dažnai (80–99%) | 2 ligose |
| CRPPACDP-L-ribitol pyrophosphorylase A | Labai dažnai (80–99%) | 3 ligose |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Labai dažnai (80–99%) | 1 ligoje |
| CYP1B1cytochrome P450 family 1 subfamily B member 1 | Labai dažnai (80–99%) | 1 ligoje |
| FBN1fibrillin 1 | Labai dažnai (80–99%) | 7 ligose |
| FKRPfukutin related protein | Labai dažnai (80–99%) | 3 ligose |
| FKTNfukutin | Labai dažnai (80–99%) | 4 ligose |
| GMPPBGDP-mannose pyrophosphorylase B | Labai dažnai (80–99%) | 1 ligoje |
| IDUAalpha-L-iduronidase | Labai dažnai (80–99%) | 4 ligose |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Labai dažnai (80–99%) | 3 ligose |
| LTBP2latent transforming growth factor beta binding protein 2 | Labai dažnai (80–99%) | 3 ligose |
| MFRPmembrane frizzled-related protein | Labai dažnai (80–99%) | 1 ligoje |
| MYOCmyocilin | Labai dažnai (80–99%) | 2 ligose |
| OTX2orthodenticle homeobox 2 | Labai dažnai (80–99%) | 1 ligoje |
| PIK3C2Aphosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | Labai dažnai (80–99%) | 2 ligose |
| PITX2paired like homeodomain 2 | Labai dažnai (80–99%) | 3 ligose |
Rodyti dar 317 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| POMT1protein O-mannosyltransferase 1 | Labai dažnai (80–99%) | 3 ligose |
| POMT2protein O-mannosyltransferase 2 | Labai dažnai (80–99%) | 4 ligose |
| PRSS56serine protease 56 | Labai dažnai (80–99%) | 1 ligoje |
| RAXretina and anterior neural fold homeobox | Labai dažnai (80–99%) | 1 ligoje |
| RIGIRNA sensor RIG-I | Labai dažnai (80–99%) | 1 ligoje |
| RNU4ATACRNA, U4atac small nuclear | Labai dažnai (80–99%) | 1 ligoje |
| RS1retinoschisin 1 | Labai dažnai (80–99%) | 1 ligoje |
| SIX6SIX homeobox 6 | Labai dažnai (80–99%) | 2 ligose |
| SOX2SRY-box transcription factor 2 | Labai dažnai (80–99%) | 1 ligoje |
| TEKTEK receptor tyrosine kinase | Labai dažnai (80–99%) | 2 ligose |
| TMEM98transmembrane protein 98 | Labai dažnai (80–99%) | 1 ligoje |
| TRIP13thyroid hormone receptor interactor 13 | Labai dažnai (80–99%) | 1 ligoje |
| XYLT1xylosyltransferase 1 | Labai dažnai (80–99%) | 1 ligoje |
| ABCA4ATP binding cassette subfamily A member 4 | Dažnai (30–79%) | 1 ligoje |
| ADAMTS3ADAM metallopeptidase with thrombospondin type 1 motif 3 | Dažnai (30–79%) | 1 ligoje |
| AGBL5AGBL carboxypeptidase 5 | Dažnai (30–79%) | 1 ligoje |
| AGKacylglycerol kinase | Dažnai (30–79%) | 2 ligose |
| AHI1Abelson helper integration site 1 | Dažnai (30–79%) | 1 ligoje |
| AHRaryl hydrocarbon receptor | Dažnai (30–79%) | 1 ligoje |
| ANKLE2ankyrin repeat and LEM domain containing 2 | Dažnai (30–79%) | 1 ligoje |
| ANTXR1ANTXR cell adhesion molecule 1 | Dažnai (30–79%) | 2 ligose |
| ARHGEF18Rho/Rac guanine nucleotide exchange factor 18 | Dažnai (30–79%) | 1 ligoje |
| ARL2BPARF like GTPase 2 binding protein | Dažnai (30–79%) | 1 ligoje |
| ARL3ARF like GTPase 3 | Dažnai (30–79%) | 1 ligoje |
| ARL6ARF like GTPase 6 | Dažnai (30–79%) | 2 ligose |
| ATRATR checkpoint kinase | Dažnai (30–79%) | 1 ligoje |
| ATRIPATR interacting protein | Dažnai (30–79%) | 1 ligoje |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Dažnai (30–79%) | 1 ligoje |
| BBS1Bardet-Biedl syndrome 1 | Dažnai (30–79%) | 2 ligose |
| BBS2Bardet-Biedl syndrome 2 | Dažnai (30–79%) | 1 ligoje |
| BCORBCL6 corepressor | Dažnai (30–79%) | 3 ligose |
| CA4carbonic anhydrase 4 | Dažnai (30–79%) | 1 ligoje |
| CC2D2Acoiled-coil and C2 domain containing 2A | Dažnai (30–79%) | 1 ligoje |
| CCBE1collagen and calcium binding EGF domains 1 | Dažnai (30–79%) | 2 ligose |
| CCDC22CCC complex scaffolding subunit CCDC22 | Dažnai (30–79%) | 2 ligose |
| CDH11cadherin 11 | Dažnai (30–79%) | 1 ligoje |
| CDHR1cadherin related family member 1 | Dažnai (30–79%) | 1 ligoje |
| CENPEcentromere protein E | Dažnai (30–79%) | 1 ligoje |
| CEP152centrosomal protein 152 | Dažnai (30–79%) | 1 ligoje |
| CEP295centrosomal protein 295 | Dažnai (30–79%) | 1 ligoje |
| CEP63centrosomal protein 63 | Dažnai (30–79%) | 1 ligoje |
| CERKLCERK like autophagy regulator | Dažnai (30–79%) | 1 ligoje |
| CFAP20cilia and flagella associated protein 20 | Dažnai (30–79%) | 1 ligoje |
| CFAP418cilia and flagella associated protein 418 | Dažnai (30–79%) | 1 ligoje |
| CHST14carbohydrate sulfotransferase 14 | Dažnai (30–79%) | 2 ligose |
| CLRN1clarin 1 | Dažnai (30–79%) | 1 ligoje |
| CNGA1cyclic nucleotide gated channel subunit alpha 1 | Dažnai (30–79%) | 1 ligoje |
| CNGB1cyclic nucleotide gated channel subunit beta 1 | Dažnai (30–79%) | 1 ligoje |
| COL11A1collagen type XI alpha 1 chain | Dažnai (30–79%) | 3 ligose |
| COL4A1collagen type IV alpha 1 chain | Dažnai (30–79%) | 2 ligose |
| COQ8Bcoenzyme Q8B | Dažnai (30–79%) | 1 ligoje |
| CPAPcentrosome assembly and centriole elongation protein | Dažnai (30–79%) | 1 ligoje |
| CRXcone-rod homeobox | Dažnai (30–79%) | 1 ligoje |
| DAG1dystroglycan 1 | Dažnai (30–79%) | 2 ligose |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Dažnai (30–79%) | 1 ligoje |
| DHX38DEAH-box helicase 38 | Dažnai (30–79%) | 1 ligoje |
| DNA2DNA replication helicase/nuclease 2 | Dažnai (30–79%) | 2 ligose |
| EXOSC2exosome component 2 | Dažnai (30–79%) | 1 ligoje |
| EYSEGF-like photoreceptor maintenance factor | Dažnai (30–79%) | 1 ligoje |
| FAM161AFAM161 centrosomal protein A | Dažnai (30–79%) | 1 ligoje |
| FAT4FAT atypical cadherin 4 | Dažnai (30–79%) | 1 ligoje |
| FOXC1forkhead box C1 | Dažnai (30–79%) | 4 ligose |
| FSCN2fascin actin-bundling protein 2, retinal | Dažnai (30–79%) | 1 ligoje |
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Dažnai (30–79%) | 1 ligoje |
| FUT8fucosyltransferase 8 | Dažnai (30–79%) | 1 ligoje |
| GJB3gap junction protein beta 3 | Dažnai (30–79%) | 1 ligoje |
| GJB4gap junction protein beta 4 | Dažnai (30–79%) | 1 ligoje |
| GNAQG protein subunit alpha q | Dažnai (30–79%) | 2 ligose |
| GUCA1Bguanylate cyclase activator 1B | Dažnai (30–79%) | 1 ligoje |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Dažnai (30–79%) | 1 ligoje |
| HKDC1hexokinase domain containing 1 | Dažnai (30–79%) | 1 ligoje |
| IDH3Aisocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha | Dažnai (30–79%) | 1 ligoje |
| IDH3Bisocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | Dažnai (30–79%) | 1 ligoje |
| IFIH1interferon induced with helicase C domain 1 | Dažnai (30–79%) | 2 ligose |
| IFT140intraflagellar transport 140 | Dažnai (30–79%) | 1 ligoje |
| IFT172intraflagellar transport 172 | Dažnai (30–79%) | 1 ligoje |
| IFT43intraflagellar transport 43 | Dažnai (30–79%) | 1 ligoje |
| IFT88intraflagellar transport 88 | Dažnai (30–79%) | 1 ligoje |
| IMPDH1inosine monophosphate dehydrogenase 1 | Dažnai (30–79%) | 1 ligoje |
| IMPG1interphotoreceptor matrix proteoglycan 1 | Dažnai (30–79%) | 1 ligoje |
| IMPG2interphotoreceptor matrix proteoglycan 2 | Dažnai (30–79%) | 1 ligoje |
| KDSR3-ketodihydrosphingosine reductase | Dažnai (30–79%) | 1 ligoje |
| KIAA1549KIAA1549 | Dažnai (30–79%) | 1 ligoje |
| KIZkizuna centrosomal protein | Dažnai (30–79%) | 1 ligoje |
| KLHL7kelch like family member 7 | Dažnai (30–79%) | 1 ligoje |
| LRATlecithin retinol acyltransferase | Dažnai (30–79%) | 1 ligoje |
| LRRC8Cleucine rich repeat containing 8 VRAC subunit C | Dažnai (30–79%) | 1 ligoje |
| MAGmyelin associated glycoprotein | Dažnai (30–79%) | 1 ligoje |
| MAKmale germ cell associated kinase | Dažnai (30–79%) | 1 ligoje |
| MERTKMER proto-oncogene, tyrosine kinase | Dažnai (30–79%) | 1 ligoje |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Dažnai (30–79%) | 1 ligoje |
| NCAPG2non-SMC condensin II complex subunit G2 | Dažnai (30–79%) | 1 ligoje |
| NDPnorrin cystine knot growth factor NDP | Dažnai (30–79%) | 3 ligose |
| NDRG1N-myc downstream regulated 1 | Dažnai (30–79%) | 1 ligoje |
| NEK2NIMA related kinase 2 | Dažnai (30–79%) | 1 ligoje |
| NINninein | Dažnai (30–79%) | 1 ligoje |
| NOD2nucleotide binding oligomerization domain containing 2 | Dažnai (30–79%) | 2 ligose |
| NOS3nitric oxide synthase 3 | Dažnai (30–79%) | 1 ligoje |
| NR2E3nuclear receptor subfamily 2 group E member 3 | Dažnai (30–79%) | 1 ligoje |
| NRLneural retina leucine zipper | Dažnai (30–79%) | 1 ligoje |
| NSMCE2NSE2 SUMO ligase component of SMC5/6 complex | Dažnai (30–79%) | 1 ligoje |
| NUP85nucleoporin 85 | Dažnai (30–79%) | 1 ligoje |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Dažnai (30–79%) | 2 ligose |
| OFD1OFD1 centriole and centriolar satellite protein | Dažnai (30–79%) | 1 ligoje |
| PAX6paired box 6 | Dažnai (30–79%) | 4 ligose |
| PCAREphotoreceptor cilium actin regulator | Dažnai (30–79%) | 1 ligoje |
| PCNTpericentrin | Dažnai (30–79%) | 1 ligoje |
| PDE6Aphosphodiesterase 6A | Dažnai (30–79%) | 1 ligoje |
| PDE6Bphosphodiesterase 6B | Dažnai (30–79%) | 1 ligoje |
| PDE6Gphosphodiesterase 6G | Dažnai (30–79%) | 1 ligoje |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Dažnai (30–79%) | 2 ligose |
| PLK4polo like kinase 4 | Dažnai (30–79%) | 1 ligoje |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Dažnai (30–79%) | 2 ligose |
| POMKprotein O-mannose kinase | Dažnai (30–79%) | 1 ligoje |
| PRCDphotoreceptor disc component | Dažnai (30–79%) | 1 ligoje |
| PROM1prominin 1 | Dažnai (30–79%) | 1 ligoje |
| PRPF3pre-mRNA processing factor 3 | Dažnai (30–79%) | 1 ligoje |
| PRPF31pre-mRNA processing factor 31 | Dažnai (30–79%) | 1 ligoje |
| PRPF4pre-mRNA splicing tri-snRNP complex factor PRPF4 | Dažnai (30–79%) | 1 ligoje |
| PRPF6pre-mRNA processing factor 6 | Dažnai (30–79%) | 1 ligoje |
| PRPF8pre-mRNA processing factor 8 | Dažnai (30–79%) | 1 ligoje |
| PRPH2peripherin 2 | Dažnai (30–79%) | 1 ligoje |
| PUS1pseudouridine synthase 1 | Dažnai (30–79%) | 1 ligoje |
| RBBP8RB binding protein 8, endonuclease | Dažnai (30–79%) | 1 ligoje |
| RBP3retinol binding protein 3 | Dažnai (30–79%) | 1 ligoje |
| RDH12retinol dehydrogenase 12 | Dažnai (30–79%) | 1 ligoje |
| REEP6receptor accessory protein 6 | Dažnai (30–79%) | 1 ligoje |
| RGRretinal G protein coupled receptor | Dažnai (30–79%) | 1 ligoje |
| RHOrhodopsin | Dažnai (30–79%) | 1 ligoje |
| RLBP1retinaldehyde binding protein 1 | Dažnai (30–79%) | 1 ligoje |
| RNU4-2RNA, U4 small nuclear 2 | Dažnai (30–79%) | 1 ligoje |
| RNU6-1RNA, U6 small nuclear 1 | Dažnai (30–79%) | 1 ligoje |
| RNU6-2RNA, U6 small nuclear 2 | Dažnai (30–79%) | 1 ligoje |
| RNU6-8RNA, U6 small nuclear 8 | Dažnai (30–79%) | 1 ligoje |
| RNU6-9RNA, U6 small nuclear 9 | Dažnai (30–79%) | 1 ligoje |
| ROM1retinal outer segment membrane protein 1 | Dažnai (30–79%) | 1 ligoje |
| RP1RP1 axonemal microtubule associated | Dažnai (30–79%) | 1 ligoje |
| RP1L1RP1 like 1 | Dažnai (30–79%) | 1 ligoje |
| RP2RP2 activator of ARL3 GTPase | Dažnai (30–79%) | 1 ligoje |
| RP9RP9 pre-mRNA splicing factor | Dažnai (30–79%) | 1 ligoje |
| RPE65retinoid isomerohydrolase RPE65 | Dažnai (30–79%) | 1 ligoje |
| RPGRretinitis pigmentosa GTPase regulator | Dažnai (30–79%) | 1 ligoje |
| RXYLT1ribitol xylosyltransferase 1 | Dažnai (30–79%) | 1 ligoje |
| SAGS-antigen visual arrestin | Dažnai (30–79%) | 1 ligoje |
| SAXO6stabilizer of axonemal microtubules 6 | Dažnai (30–79%) | 1 ligoje |
| SBF2SET binding factor 2 | Dažnai (30–79%) | 2 ligose |
| SCAPERS-phase cyclin A associated protein in the ER | Dažnai (30–79%) | 1 ligoje |
| SEMA4Asemaphorin 4A | Dažnai (30–79%) | 1 ligoje |
| SLC7A14solute carrier family 7 member 14 | Dažnai (30–79%) | 1 ligoje |
| SNRNP200small nuclear ribonucleoprotein U5 subunit 200 | Dažnai (30–79%) | 1 ligoje |
| SPATA7spermatogenesis associated 7 | Dažnai (30–79%) | 1 ligoje |
| TMEM216transmembrane protein 216 | Dažnai (30–79%) | 1 ligoje |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Dažnai (30–79%) | 1 ligoje |
| TRAIPTRAF interacting protein | Dažnai (30–79%) | 1 ligoje |
| TRIM44TRIM family member 44 | Dažnai (30–79%) | 2 ligose |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Dažnai (30–79%) | 1 ligoje |
| TTC8tetratricopeptide repeat domain 8 | Dažnai (30–79%) | 1 ligoje |
| TUBTUB bipartite transcription factor | Dažnai (30–79%) | 1 ligoje |
| TULP1TUB like protein 1 | Dažnai (30–79%) | 1 ligoje |
| USH2Ausherin | Dažnai (30–79%) | 1 ligoje |
| WFS1wolframin ER transmembrane glycoprotein | Dažnai (30–79%) | 3 ligose |
| WT1WT1 transcription factor | Dažnai (30–79%) | 2 ligose |
| YARS2tyrosyl-tRNA synthetase 2 | Dažnai (30–79%) | 1 ligoje |
| ZNF408zinc finger protein 408 | Dažnai (30–79%) | 1 ligoje |
| ZNF513zinc finger protein 513 | Dažnai (30–79%) | 1 ligoje |
| ZSWIM6zinc finger SWIM-type containing 6 | Dažnai (30–79%) | 2 ligose |
| ADARadenosine deaminase RNA specific | Kartais (5–29%) | 1 ligoje |
| AKT1AKT serine/threonine kinase 1 | Kartais (5–29%) | 1 ligoje |
| ARSBarylsulfatase B | Kartais (5–29%) | 1 ligoje |
| ARVCFARVCF delta catenin family member | Kartais (5–29%) | 1 ligoje |
| B3GALT6beta-1,3-galactosyltransferase 6 | Kartais (5–29%) | 1 ligoje |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Kartais (5–29%) | 1 ligoje |
| BDNFbrain derived neurotrophic factor | Kartais (5–29%) | 1 ligoje |
| BRD4bromodomain containing 4 | Kartais (5–29%) | 1 ligoje |
| BTNL2butyrophilin like 2 | Kartais (5–29%) | 1 ligoje |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Kartais (5–29%) | 1 ligoje |
| CBScystathionine beta-synthase | Kartais (5–29%) | 2 ligose |
| CHD6chromodomain helicase DNA binding protein 6 | Kartais (5–29%) | 1 ligoje |
| CISD2CDGSH iron sulfur domain 2 | Kartais (5–29%) | 1 ligoje |
| CLIP2CAP-Gly domain containing linker protein 2 | Kartais (5–29%) | 1 ligoje |
| COL2A1collagen type II alpha 1 chain | Kartais (5–29%) | 1 ligoje |
| COMTcatechol-O-methyltransferase | Kartais (5–29%) | 1 ligoje |
| COX7Bcytochrome c oxidase subunit 7B | Kartais (5–29%) | 1 ligoje |
| CPLX1complexin 1 | Kartais (5–29%) | 1 ligoje |
| CREBBPCREB binding lysine acetyltransferase | Kartais (5–29%) | 3 ligose |
| CRYBA2crystallin beta A2 | Kartais (5–29%) | 1 ligoje |
| CRYBB3crystallin beta B3 | Kartais (5–29%) | 1 ligoje |
| CTBP1C-terminal binding protein 1 | Kartais (5–29%) | 1 ligoje |
| DCNdecorin | Kartais (5–29%) | 1 ligoje |
| DHCR77-dehydrocholesterol reductase | Kartais (5–29%) | 1 ligoje |
| DKC1dyskerin pseudouridine synthase 1 | Kartais (5–29%) | 1 ligoje |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Kartais (5–29%) | 1 ligoje |
| DPYSL5dihydropyrimidinase like 5 | Kartais (5–29%) | 1 ligoje |
| DSEdermatan sulfate epimerase | Kartais (5–29%) | 1 ligoje |
| EIF4Heukaryotic translation initiation factor 4H | Kartais (5–29%) | 1 ligoje |
| ELNelastin | Kartais (5–29%) | 1 ligoje |
| EP300EP300 lysine acetyltransferase | Kartais (5–29%) | 2 ligose |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Kartais (5–29%) | 1 ligoje |
| FAM50Afamily with sequence similarity 50 member A | Kartais (5–29%) | 1 ligoje |
| FASFas cell surface death receptor | Kartais (5–29%) | 1 ligoje |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Kartais (5–29%) | 1 ligoje |
| FZD4frizzled class receptor 4 | Kartais (5–29%) | 1 ligoje |
| GP1BBglycoprotein Ib platelet subunit beta | Kartais (5–29%) | 1 ligoje |
| GSNgelsolin | 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 |
| GZF1GDNF inducible zinc finger protein 1 | Kartais (5–29%) | 1 ligoje |
| HCCSholocytochrome c synthase | Kartais (5–29%) | 1 ligoje |
| HDAC8histone deacetylase 8 | Kartais (5–29%) | 1 ligoje |
| HGDhomogentisate 1,2-dioxygenase | Kartais (5–29%) | 1 ligoje |
| HIRAhistone cell cycle regulator | Kartais (5–29%) | 1 ligoje |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Kartais (5–29%) | 3 ligose |
| JMJD1Cjumonji domain containing 1C | Kartais (5–29%) | 1 ligoje |
| KCNA4potassium voltage-gated channel subfamily A member 4 | Kartais (5–29%) | 1 ligoje |
| KIF11kinesin family member 11 | Kartais (5–29%) | 1 ligoje |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Kartais (5–29%) | 1 ligoje |
| LIMK1LIM domain kinase 1 | Kartais (5–29%) | 1 ligoje |
| LMBRD2LMBR1 domain containing 2 | Kartais (5–29%) | 1 ligoje |
| LRP5LDL receptor related protein 5 | Kartais (5–29%) | 1 ligoje |
| LSM11LSM11, U7 small nuclear RNA associated | Kartais (5–29%) | 1 ligoje |
| MAFMAF bZIP transcription factor | Kartais (5–29%) | 1 ligoje |
| MAU2MAU2 sister chromatid cohesion factor | Kartais (5–29%) | 1 ligoje |
| METTL27methyltransferase like 27 | Kartais (5–29%) | 1 ligoje |
| NCF1neutrophil cytosolic factor 1 | Kartais (5–29%) | 1 ligoje |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Kartais (5–29%) | 1 ligoje |
| NELFAnegative elongation factor complex member A | Kartais (5–29%) | 1 ligoje |
| NF1neurofibromin 1 | Kartais (5–29%) | 2 ligose |
| NFIXnuclear factor I X | Kartais (5–29%) | 1 ligoje |
| NHSNHS actin remodeling regulator | Kartais (5–29%) | 2 ligose |
| NIPBLNIPBL cohesin loading factor | Kartais (5–29%) | 1 ligoje |
| NLRP3NLR family pyrin domain containing 3 | Kartais (5–29%) | 1 ligoje |
| NSD2nuclear receptor binding SET domain protein 2 | Kartais (5–29%) | 1 ligoje |
| PEX1peroxisomal biogenesis factor 1 | Kartais (5–29%) | 2 ligose |
| PEX10peroxisomal biogenesis factor 10 | Kartais (5–29%) | 1 ligoje |
| PEX11Bperoxisomal biogenesis factor 11 beta | Kartais (5–29%) | 1 ligoje |
| PEX12peroxisomal biogenesis factor 12 | Kartais (5–29%) | 1 ligoje |
| PEX13peroxisomal biogenesis factor 13 | Kartais (5–29%) | 1 ligoje |
| PEX14peroxisomal biogenesis factor 14 | Kartais (5–29%) | 1 ligoje |
| PEX16peroxisomal biogenesis factor 16 | Kartais (5–29%) | 1 ligoje |
| PEX19peroxisomal biogenesis factor 19 | Kartais (5–29%) | 1 ligoje |
| PEX2peroxisomal biogenesis factor 2 | Kartais (5–29%) | 1 ligoje |
| PEX26peroxisomal biogenesis factor 26 | Kartais (5–29%) | 1 ligoje |
| PEX3peroxisomal biogenesis factor 3 | Kartais (5–29%) | 1 ligoje |
| PEX5peroxisomal biogenesis factor 5 | Kartais (5–29%) | 1 ligoje |
| PEX6peroxisomal biogenesis factor 6 | Kartais (5–29%) | 1 ligoje |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Kartais (5–29%) | 1 ligoje |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Kartais (5–29%) | 2 ligose |
| PRDM5PR/SET domain 5 | Kartais (5–29%) | 1 ligoje |
| PRR12proline rich 12 | Kartais (5–29%) | 1 ligoje |
| PTBP1polypyrimidine tract binding protein 1 | Kartais (5–29%) | 1 ligoje |
| PTCH1patched 1 | Kartais (5–29%) | 2 ligose |
| PTCH2patched 2 | Kartais (5–29%) | 1 ligoje |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Kartais (5–29%) | 2 ligose |
| RAD21RAD21 cohesin complex component | Kartais (5–29%) | 1 ligoje |
| RFC2replication factor C subunit 2 | Kartais (5–29%) | 1 ligoje |
| RHOAras homolog family member A | Kartais (5–29%) | 1 ligoje |
| RNASEH2Aribonuclease H2 subunit A | Kartais (5–29%) | 1 ligoje |
| RNASEH2Bribonuclease H2 subunit B | Kartais (5–29%) | 1 ligoje |
| RNASEH2Cribonuclease H2 subunit C | Kartais (5–29%) | 1 ligoje |
| RNU5B-1RNA, U5B small nuclear 1 | Kartais (5–29%) | 1 ligoje |
| RNU7-1RNA, U7 small nuclear 1 | Kartais (5–29%) | 1 ligoje |
| RREB1ras responsive element binding protein 1 | Kartais (5–29%) | 1 ligoje |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Kartais (5–29%) | 1 ligoje |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Kartais (5–29%) | 1 ligoje |
| SEC24CSEC24 homolog C, COPII component | Kartais (5–29%) | 1 ligoje |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Kartais (5–29%) | 1 ligoje |
| SLC25A4solute carrier family 25 member 4 | Kartais (5–29%) | 1 ligoje |
| SMC1Astructural maintenance of chromosomes 1A | Kartais (5–29%) | 1 ligoje |
| SMC3structural maintenance of chromosomes 3 | Kartais (5–29%) | 1 ligoje |
| STX1Asyntaxin 1A | Kartais (5–29%) | 1 ligoje |
| SUFUSUFU negative regulator of hedgehog signaling | Kartais (5–29%) | 1 ligoje |
| TBL2transducin beta like 2 | Kartais (5–29%) | 1 ligoje |
| TBX1T-box transcription factor 1 | Kartais (5–29%) | 1 ligoje |
| TGFB1transforming growth factor beta 1 | Kartais (5–29%) | 1 ligoje |
| TKFCtriokinase and FMN cyclase | Kartais (5–29%) | 1 ligoje |
| TMEM270transmembrane protein 270 | Kartais (5–29%) | 1 ligoje |
| TREX1three prime repair exonuclease 1 | Kartais (5–29%) | 3 ligose |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Kartais (5–29%) | 1 ligoje |
| VCANversican | Kartais (5–29%) | 2 ligose |
| VPS35LVPS35 endosomal protein sorting factor like | Kartais (5–29%) | 1 ligoje |
| VPS37DVPS37D subunit of ESCRT-I | Kartais (5–29%) | 1 ligoje |
| WASHC5WASH complex subunit 5 | Kartais (5–29%) | 1 ligoje |
| YAP1Yes1 associated transcriptional regulator | Kartais (5–29%) | 1 ligoje |
| ZFXzinc finger protein X-linked | Kartais (5–29%) | 1 ligoje |
| ZNF469zinc finger protein 469 | Kartais (5–29%) | 1 ligoje |
| ACVR1activin A receptor type 1 | Retai (1–4 %) | 1 ligoje |
| ADAMTSL2ADAMTS like 2 | Retai (1–4 %) | 1 ligoje |
| ANKRD55ankyrin repeat domain 55 | Retai (1–4 %) | 1 ligoje |
| CD247CD247 molecule | Retai (1–4 %) | 1 ligoje |
| COL8A2collagen type VIII alpha 2 chain | Retai (1–4 %) | 1 ligoje |
| GRHL2grainyhead like transcription factor 2 | Retai (1–4 %) | 1 ligoje |
| HPD4-hydroxyphenylpyruvate dioxygenase | Retai (1–4 %) | 1 ligoje |
| HRASHRas proto-oncogene, GTPase | Retai (1–4 %) | 1 ligoje |
| IL2RAinterleukin 2 receptor subunit alpha | Retai (1–4 %) | 1 ligoje |
| IL2RBinterleukin 2 receptor subunit beta | Retai (1–4 %) | 1 ligoje |
| LTBP3latent transforming growth factor beta binding protein 3 | Retai (1–4 %) | 1 ligoje |
| OVOL2ovo like zinc finger 2 | Retai (1–4 %) | 2 ligose |
| PTPN2protein tyrosine phosphatase non-receptor type 2 | Retai (1–4 %) | 1 ligoje |
| SKIC2SKI2 subunit of superkiller complex | Retai (1–4 %) | 1 ligoje |
| SKIC3SKI3 subunit of superkiller complex | Retai (1–4 %) | 1 ligoje |
| STAT4signal transducer and activator of transcription 4 | Retai (1–4 %) | 1 ligoje |
| STUB1STIP1 homology and U-box containing protein 1 | Retai (1–4 %) | 1 ligoje |
| VSX1visual system homeobox 1 | Retai (1–4 %) | 1 ligoje |
| ZEB1zinc finger E-box binding homeobox 1 | Retai (1–4 %) | 1 ligoje |
| ATOH7atonal bHLH transcription factor 7 | Neužfiksuota | 1 ligoje |
| CCDC28Bcoiled-coil domain containing 28B | Neužfiksuota | 1 ligoje |
| CHRDL1chordin like 1 | Neužfiksuota | 1 ligoje |
| CRYAAcrystallin alpha A | Neužfiksuota | 1 ligoje |
| EBPEBP cholestenol delta-isomerase | Neužfiksuota | 1 ligoje |
| FREM2FRAS1 related extracellular matrix 2 | Neužfiksuota | 1 ligoje |
| LMX1BLIM homeobox transcription factor 1 beta | Neužfiksuota | 1 ligoje |
| LOXL1lysyl oxidase like 1 | Neužfiksuota | 1 ligoje |
| MASP1MBL associated serine protease 1 | Neužfiksuota | 1 ligoje |
| RECQL4RecQ like helicase 4 | Neužfiksuota | 1 ligoje |
| TIMP3TIMP metallopeptidase inhibitor 3 | Neužfiksuota | 1 ligoje |
| ZMIZ1zinc finger MIZ-type containing 1 | 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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