Cecha
Glaucoma
Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.
Podsumowanie
- Układ organizmu
- Abnormality of the eye
Genom referencyjnyGRCh38hg38
Pozycje na stronach genów i wariantów zależą od tego wyboru, w tej przeglądarce.
Read the genes linked to Glaucoma, and the rest of your genome, with one test.
Od 449 $Bezpłatna wysyłka · Wyniki w ciągu 6–8 tygodni
Zamawiam Genome Test357 genów powiązanych z Glaucoma
Zmiany w tych genach powodują rzadkie choroby, w których występuje Glaucoma. Większość osób z tą cechą nie ma żadnej z tych chorób, a gen z tej listy nic nie mówi o czyimkolwiek własnym genomie.
| Gen | Jak często występuje | Choroby |
|---|---|---|
| ADAMTS10ADAM metallopeptidase with thrombospondin type 1 motif 10 | Zawsze | W 2 chorobach |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Zawsze | W 1 chorobie |
| CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin | Zawsze | W 2 chorobach |
| COL18A1collagen type XVIII alpha 1 chain | Zawsze | W 1 chorobie |
| FLNAfilamin A | Zawsze | W 1 chorobie |
| GJA1gap junction protein alpha 1 | Zawsze | W 3 chorobach |
| LIM2lens intrinsic membrane protein 2 | Zawsze | W 1 chorobie |
| MYMKmyomaker, myoblast fusion factor | Zawsze | W 1 chorobie |
| NHEJ1non-homologous end joining factor 1 | Zawsze | W 1 chorobie |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Zawsze | W 4 chorobach |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Zawsze | W 2 chorobach |
| PYCR1pyrroline-5-carboxylate reductase 1 | Zawsze | W 1 chorobie |
| SLC4A4solute carrier family 4 member 4 | Zawsze | W 1 chorobie |
| TBC1D20TBC1 domain family member 20 | Zawsze | W 1 chorobie |
| ADAMTS17ADAM metallopeptidase with thrombospondin type 1 motif 17 | Bardzo często (80–99%) | W 2 chorobach |
| ALDH1A3aldehyde dehydrogenase 1 family member A3 | Bardzo często (80–99%) | W 1 chorobie |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Bardzo często (80–99%) | W 2 chorobach |
| B3GLCTbeta 3-glucosyltransferase | Bardzo często (80–99%) | W 2 chorobach |
| BEST1bestrophin 1 | Bardzo często (80–99%) | W 3 chorobach |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Bardzo często (80–99%) | W 1 chorobie |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Bardzo często (80–99%) | W 1 chorobie |
| BUB3BUB3 mitotic checkpoint protein | Bardzo często (80–99%) | W 1 chorobie |
| CANT1calcium activated nucleotidase 1 | Bardzo często (80–99%) | W 1 chorobie |
| CEP57centrosomal protein 57 | Bardzo często (80–99%) | W 1 chorobie |
| CRB1crumbs cell polarity complex component 1 | Bardzo często (80–99%) | W 2 chorobach |
| CRPPACDP-L-ribitol pyrophosphorylase A | Bardzo często (80–99%) | W 3 chorobach |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Bardzo często (80–99%) | W 1 chorobie |
| CYP1B1cytochrome P450 family 1 subfamily B member 1 | Bardzo często (80–99%) | W 1 chorobie |
| FBN1fibrillin 1 | Bardzo często (80–99%) | W 7 chorobach |
| FKRPfukutin related protein | Bardzo często (80–99%) | W 3 chorobach |
| FKTNfukutin | Bardzo często (80–99%) | W 4 chorobach |
| GMPPBGDP-mannose pyrophosphorylase B | Bardzo często (80–99%) | W 1 chorobie |
| IDUAalpha-L-iduronidase | Bardzo często (80–99%) | W 4 chorobach |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Bardzo często (80–99%) | W 3 chorobach |
| LTBP2latent transforming growth factor beta binding protein 2 | Bardzo często (80–99%) | W 3 chorobach |
| MFRPmembrane frizzled-related protein | Bardzo często (80–99%) | W 1 chorobie |
| MYOCmyocilin | Bardzo często (80–99%) | W 2 chorobach |
| OTX2orthodenticle homeobox 2 | Bardzo często (80–99%) | W 1 chorobie |
| PIK3C2Aphosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | Bardzo często (80–99%) | W 2 chorobach |
| PITX2paired like homeodomain 2 | Bardzo często (80–99%) | W 3 chorobach |
Pokaż jeszcze 317 genów
| Gen | Jak często występuje | Choroby |
|---|---|---|
| POMT1protein O-mannosyltransferase 1 | Bardzo często (80–99%) | W 3 chorobach |
| POMT2protein O-mannosyltransferase 2 | Bardzo często (80–99%) | W 4 chorobach |
| PRSS56serine protease 56 | Bardzo często (80–99%) | W 1 chorobie |
| RAXretina and anterior neural fold homeobox | Bardzo często (80–99%) | W 1 chorobie |
| RIGIRNA sensor RIG-I | Bardzo często (80–99%) | W 1 chorobie |
| RNU4ATACRNA, U4atac small nuclear | Bardzo często (80–99%) | W 1 chorobie |
| RS1retinoschisin 1 | Bardzo często (80–99%) | W 1 chorobie |
| SIX6SIX homeobox 6 | Bardzo często (80–99%) | W 2 chorobach |
| SOX2SRY-box transcription factor 2 | Bardzo często (80–99%) | W 1 chorobie |
| TEKTEK receptor tyrosine kinase | Bardzo często (80–99%) | W 2 chorobach |
| TMEM98transmembrane protein 98 | Bardzo często (80–99%) | W 1 chorobie |
| TRIP13thyroid hormone receptor interactor 13 | Bardzo często (80–99%) | W 1 chorobie |
| XYLT1xylosyltransferase 1 | Bardzo często (80–99%) | W 1 chorobie |
| ABCA4ATP binding cassette subfamily A member 4 | Często (30–79%) | W 1 chorobie |
| ADAMTS3ADAM metallopeptidase with thrombospondin type 1 motif 3 | Często (30–79%) | W 1 chorobie |
| AGBL5AGBL carboxypeptidase 5 | Często (30–79%) | W 1 chorobie |
| AGKacylglycerol kinase | Często (30–79%) | W 2 chorobach |
| AHI1Abelson helper integration site 1 | Często (30–79%) | W 1 chorobie |
| AHRaryl hydrocarbon receptor | Często (30–79%) | W 1 chorobie |
| ANKLE2ankyrin repeat and LEM domain containing 2 | Często (30–79%) | W 1 chorobie |
| ANTXR1ANTXR cell adhesion molecule 1 | Często (30–79%) | W 2 chorobach |
| ARHGEF18Rho/Rac guanine nucleotide exchange factor 18 | Często (30–79%) | W 1 chorobie |
| ARL2BPARF like GTPase 2 binding protein | Często (30–79%) | W 1 chorobie |
| ARL3ARF like GTPase 3 | Często (30–79%) | W 1 chorobie |
| ARL6ARF like GTPase 6 | Często (30–79%) | W 2 chorobach |
| ATRATR checkpoint kinase | Często (30–79%) | W 1 chorobie |
| ATRIPATR interacting protein | Często (30–79%) | W 1 chorobie |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Często (30–79%) | W 1 chorobie |
| BBS1Bardet-Biedl syndrome 1 | Często (30–79%) | W 2 chorobach |
| BBS2Bardet-Biedl syndrome 2 | Często (30–79%) | W 1 chorobie |
| BCORBCL6 corepressor | Często (30–79%) | W 3 chorobach |
| CA4carbonic anhydrase 4 | Często (30–79%) | W 1 chorobie |
| CC2D2Acoiled-coil and C2 domain containing 2A | Często (30–79%) | W 1 chorobie |
| CCBE1collagen and calcium binding EGF domains 1 | Często (30–79%) | W 2 chorobach |
| CCDC22CCC complex scaffolding subunit CCDC22 | Często (30–79%) | W 2 chorobach |
| CDH11cadherin 11 | Często (30–79%) | W 1 chorobie |
| CDHR1cadherin related family member 1 | Często (30–79%) | W 1 chorobie |
| CENPEcentromere protein E | Często (30–79%) | W 1 chorobie |
| CEP152centrosomal protein 152 | Często (30–79%) | W 1 chorobie |
| CEP295centrosomal protein 295 | Często (30–79%) | W 1 chorobie |
| CEP63centrosomal protein 63 | Często (30–79%) | W 1 chorobie |
| CERKLCERK like autophagy regulator | Często (30–79%) | W 1 chorobie |
| CFAP20cilia and flagella associated protein 20 | Często (30–79%) | W 1 chorobie |
| CFAP418cilia and flagella associated protein 418 | Często (30–79%) | W 1 chorobie |
| CHST14carbohydrate sulfotransferase 14 | Często (30–79%) | W 2 chorobach |
| CLRN1clarin 1 | Często (30–79%) | W 1 chorobie |
| CNGA1cyclic nucleotide gated channel subunit alpha 1 | Często (30–79%) | W 1 chorobie |
| CNGB1cyclic nucleotide gated channel subunit beta 1 | Często (30–79%) | W 1 chorobie |
| COL11A1collagen type XI alpha 1 chain | Często (30–79%) | W 3 chorobach |
| COL4A1collagen type IV alpha 1 chain | Często (30–79%) | W 2 chorobach |
| COQ8Bcoenzyme Q8B | Często (30–79%) | W 1 chorobie |
| CPAPcentrosome assembly and centriole elongation protein | Często (30–79%) | W 1 chorobie |
| CRXcone-rod homeobox | Często (30–79%) | W 1 chorobie |
| DAG1dystroglycan 1 | Często (30–79%) | W 2 chorobach |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Często (30–79%) | W 1 chorobie |
| DHX38DEAH-box helicase 38 | Często (30–79%) | W 1 chorobie |
| DNA2DNA replication helicase/nuclease 2 | Często (30–79%) | W 2 chorobach |
| EXOSC2exosome component 2 | Często (30–79%) | W 1 chorobie |
| EYSEGF-like photoreceptor maintenance factor | Często (30–79%) | W 1 chorobie |
| FAM161AFAM161 centrosomal protein A | Często (30–79%) | W 1 chorobie |
| FAT4FAT atypical cadherin 4 | Często (30–79%) | W 1 chorobie |
| FOXC1forkhead box C1 | Często (30–79%) | W 4 chorobach |
| FSCN2fascin actin-bundling protein 2, retinal | Często (30–79%) | W 1 chorobie |
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Często (30–79%) | W 1 chorobie |
| FUT8fucosyltransferase 8 | Często (30–79%) | W 1 chorobie |
| GJB3gap junction protein beta 3 | Często (30–79%) | W 1 chorobie |
| GJB4gap junction protein beta 4 | Często (30–79%) | W 1 chorobie |
| GNAQG protein subunit alpha q | Często (30–79%) | W 2 chorobach |
| GUCA1Bguanylate cyclase activator 1B | Często (30–79%) | W 1 chorobie |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Często (30–79%) | W 1 chorobie |
| HKDC1hexokinase domain containing 1 | Często (30–79%) | W 1 chorobie |
| IDH3Aisocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha | Często (30–79%) | W 1 chorobie |
| IDH3Bisocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | Często (30–79%) | W 1 chorobie |
| IFIH1interferon induced with helicase C domain 1 | Często (30–79%) | W 2 chorobach |
| IFT140intraflagellar transport 140 | Często (30–79%) | W 1 chorobie |
| IFT172intraflagellar transport 172 | Często (30–79%) | W 1 chorobie |
| IFT43intraflagellar transport 43 | Często (30–79%) | W 1 chorobie |
| IFT88intraflagellar transport 88 | Często (30–79%) | W 1 chorobie |
| IMPDH1inosine monophosphate dehydrogenase 1 | Często (30–79%) | W 1 chorobie |
| IMPG1interphotoreceptor matrix proteoglycan 1 | Często (30–79%) | W 1 chorobie |
| IMPG2interphotoreceptor matrix proteoglycan 2 | Często (30–79%) | W 1 chorobie |
| KDSR3-ketodihydrosphingosine reductase | Często (30–79%) | W 1 chorobie |
| KIAA1549KIAA1549 | Często (30–79%) | W 1 chorobie |
| KIZkizuna centrosomal protein | Często (30–79%) | W 1 chorobie |
| KLHL7kelch like family member 7 | Często (30–79%) | W 1 chorobie |
| LRATlecithin retinol acyltransferase | Często (30–79%) | W 1 chorobie |
| LRRC8Cleucine rich repeat containing 8 VRAC subunit C | Często (30–79%) | W 1 chorobie |
| MAGmyelin associated glycoprotein | Często (30–79%) | W 1 chorobie |
| MAKmale germ cell associated kinase | Często (30–79%) | W 1 chorobie |
| MERTKMER proto-oncogene, tyrosine kinase | Często (30–79%) | W 1 chorobie |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Często (30–79%) | W 1 chorobie |
| NCAPG2non-SMC condensin II complex subunit G2 | Często (30–79%) | W 1 chorobie |
| NDPnorrin cystine knot growth factor NDP | Często (30–79%) | W 3 chorobach |
| NDRG1N-myc downstream regulated 1 | Często (30–79%) | W 1 chorobie |
| NEK2NIMA related kinase 2 | Często (30–79%) | W 1 chorobie |
| NINninein | Często (30–79%) | W 1 chorobie |
| NOD2nucleotide binding oligomerization domain containing 2 | Często (30–79%) | W 2 chorobach |
| NOS3nitric oxide synthase 3 | Często (30–79%) | W 1 chorobie |
| NR2E3nuclear receptor subfamily 2 group E member 3 | Często (30–79%) | W 1 chorobie |
| NRLneural retina leucine zipper | Często (30–79%) | W 1 chorobie |
| NSMCE2NSE2 SUMO ligase component of SMC5/6 complex | Często (30–79%) | W 1 chorobie |
| NUP85nucleoporin 85 | Często (30–79%) | W 1 chorobie |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Często (30–79%) | W 2 chorobach |
| OFD1OFD1 centriole and centriolar satellite protein | Często (30–79%) | W 1 chorobie |
| PAX6paired box 6 | Często (30–79%) | W 4 chorobach |
| PCAREphotoreceptor cilium actin regulator | Często (30–79%) | W 1 chorobie |
| PCNTpericentrin | Często (30–79%) | W 1 chorobie |
| PDE6Aphosphodiesterase 6A | Często (30–79%) | W 1 chorobie |
| PDE6Bphosphodiesterase 6B | Często (30–79%) | W 1 chorobie |
| PDE6Gphosphodiesterase 6G | Często (30–79%) | W 1 chorobie |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Często (30–79%) | W 2 chorobach |
| PLK4polo like kinase 4 | Często (30–79%) | W 1 chorobie |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Często (30–79%) | W 2 chorobach |
| POMKprotein O-mannose kinase | Często (30–79%) | W 1 chorobie |
| PRCDphotoreceptor disc component | Często (30–79%) | W 1 chorobie |
| PROM1prominin 1 | Często (30–79%) | W 1 chorobie |
| PRPF3pre-mRNA processing factor 3 | Często (30–79%) | W 1 chorobie |
| PRPF31pre-mRNA processing factor 31 | Często (30–79%) | W 1 chorobie |
| PRPF4pre-mRNA splicing tri-snRNP complex factor PRPF4 | Często (30–79%) | W 1 chorobie |
| PRPF6pre-mRNA processing factor 6 | Często (30–79%) | W 1 chorobie |
| PRPF8pre-mRNA processing factor 8 | Często (30–79%) | W 1 chorobie |
| PRPH2peripherin 2 | Często (30–79%) | W 1 chorobie |
| PUS1pseudouridine synthase 1 | Często (30–79%) | W 1 chorobie |
| RBBP8RB binding protein 8, endonuclease | Często (30–79%) | W 1 chorobie |
| RBP3retinol binding protein 3 | Często (30–79%) | W 1 chorobie |
| RDH12retinol dehydrogenase 12 | Często (30–79%) | W 1 chorobie |
| REEP6receptor accessory protein 6 | Często (30–79%) | W 1 chorobie |
| RGRretinal G protein coupled receptor | Często (30–79%) | W 1 chorobie |
| RHOrhodopsin | Często (30–79%) | W 1 chorobie |
| RLBP1retinaldehyde binding protein 1 | Często (30–79%) | W 1 chorobie |
| RNU4-2RNA, U4 small nuclear 2 | Często (30–79%) | W 1 chorobie |
| RNU6-1RNA, U6 small nuclear 1 | Często (30–79%) | W 1 chorobie |
| RNU6-2RNA, U6 small nuclear 2 | Często (30–79%) | W 1 chorobie |
| RNU6-8RNA, U6 small nuclear 8 | Często (30–79%) | W 1 chorobie |
| RNU6-9RNA, U6 small nuclear 9 | Często (30–79%) | W 1 chorobie |
| ROM1retinal outer segment membrane protein 1 | Często (30–79%) | W 1 chorobie |
| RP1RP1 axonemal microtubule associated | Często (30–79%) | W 1 chorobie |
| RP1L1RP1 like 1 | Często (30–79%) | W 1 chorobie |
| RP2RP2 activator of ARL3 GTPase | Często (30–79%) | W 1 chorobie |
| RP9RP9 pre-mRNA splicing factor | Często (30–79%) | W 1 chorobie |
| RPE65retinoid isomerohydrolase RPE65 | Często (30–79%) | W 1 chorobie |
| RPGRretinitis pigmentosa GTPase regulator | Często (30–79%) | W 1 chorobie |
| RXYLT1ribitol xylosyltransferase 1 | Często (30–79%) | W 1 chorobie |
| SAGS-antigen visual arrestin | Często (30–79%) | W 1 chorobie |
| SAXO6stabilizer of axonemal microtubules 6 | Często (30–79%) | W 1 chorobie |
| SBF2SET binding factor 2 | Często (30–79%) | W 2 chorobach |
| SCAPERS-phase cyclin A associated protein in the ER | Często (30–79%) | W 1 chorobie |
| SEMA4Asemaphorin 4A | Często (30–79%) | W 1 chorobie |
| SLC7A14solute carrier family 7 member 14 | Często (30–79%) | W 1 chorobie |
| SNRNP200small nuclear ribonucleoprotein U5 subunit 200 | Często (30–79%) | W 1 chorobie |
| SPATA7spermatogenesis associated 7 | Często (30–79%) | W 1 chorobie |
| TMEM216transmembrane protein 216 | Często (30–79%) | W 1 chorobie |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Często (30–79%) | W 1 chorobie |
| TRAIPTRAF interacting protein | Często (30–79%) | W 1 chorobie |
| TRIM44TRIM family member 44 | Często (30–79%) | W 2 chorobach |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Często (30–79%) | W 1 chorobie |
| TTC8tetratricopeptide repeat domain 8 | Często (30–79%) | W 1 chorobie |
| TUBTUB bipartite transcription factor | Często (30–79%) | W 1 chorobie |
| TULP1TUB like protein 1 | Często (30–79%) | W 1 chorobie |
| USH2Ausherin | Często (30–79%) | W 1 chorobie |
| WFS1wolframin ER transmembrane glycoprotein | Często (30–79%) | W 3 chorobach |
| WT1WT1 transcription factor | Często (30–79%) | W 2 chorobach |
| YARS2tyrosyl-tRNA synthetase 2 | Często (30–79%) | W 1 chorobie |
| ZNF408zinc finger protein 408 | Często (30–79%) | W 1 chorobie |
| ZNF513zinc finger protein 513 | Często (30–79%) | W 1 chorobie |
| ZSWIM6zinc finger SWIM-type containing 6 | Często (30–79%) | W 2 chorobach |
| ADARadenosine deaminase RNA specific | Czasami (5–29%) | W 1 chorobie |
| AKT1AKT serine/threonine kinase 1 | Czasami (5–29%) | W 1 chorobie |
| ARSBarylsulfatase B | Czasami (5–29%) | W 1 chorobie |
| ARVCFARVCF delta catenin family member | Czasami (5–29%) | W 1 chorobie |
| B3GALT6beta-1,3-galactosyltransferase 6 | Czasami (5–29%) | W 1 chorobie |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Czasami (5–29%) | W 1 chorobie |
| BDNFbrain derived neurotrophic factor | Czasami (5–29%) | W 1 chorobie |
| BRD4bromodomain containing 4 | Czasami (5–29%) | W 1 chorobie |
| BTNL2butyrophilin like 2 | Czasami (5–29%) | W 1 chorobie |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Czasami (5–29%) | W 1 chorobie |
| CBScystathionine beta-synthase | Czasami (5–29%) | W 2 chorobach |
| CHD6chromodomain helicase DNA binding protein 6 | Czasami (5–29%) | W 1 chorobie |
| CISD2CDGSH iron sulfur domain 2 | Czasami (5–29%) | W 1 chorobie |
| CLIP2CAP-Gly domain containing linker protein 2 | Czasami (5–29%) | W 1 chorobie |
| COL2A1collagen type II alpha 1 chain | Czasami (5–29%) | W 1 chorobie |
| COMTcatechol-O-methyltransferase | Czasami (5–29%) | W 1 chorobie |
| COX7Bcytochrome c oxidase subunit 7B | Czasami (5–29%) | W 1 chorobie |
| CPLX1complexin 1 | Czasami (5–29%) | W 1 chorobie |
| CREBBPCREB binding lysine acetyltransferase | Czasami (5–29%) | W 3 chorobach |
| CRYBA2crystallin beta A2 | Czasami (5–29%) | W 1 chorobie |
| CRYBB3crystallin beta B3 | Czasami (5–29%) | W 1 chorobie |
| CTBP1C-terminal binding protein 1 | Czasami (5–29%) | W 1 chorobie |
| DCNdecorin | Czasami (5–29%) | W 1 chorobie |
| DHCR77-dehydrocholesterol reductase | Czasami (5–29%) | W 1 chorobie |
| DKC1dyskerin pseudouridine synthase 1 | Czasami (5–29%) | W 1 chorobie |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Czasami (5–29%) | W 1 chorobie |
| DPYSL5dihydropyrimidinase like 5 | Czasami (5–29%) | W 1 chorobie |
| DSEdermatan sulfate epimerase | Czasami (5–29%) | W 1 chorobie |
| EIF4Heukaryotic translation initiation factor 4H | Czasami (5–29%) | W 1 chorobie |
| ELNelastin | Czasami (5–29%) | W 1 chorobie |
| EP300EP300 lysine acetyltransferase | Czasami (5–29%) | W 2 chorobach |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Czasami (5–29%) | W 1 chorobie |
| FAM50Afamily with sequence similarity 50 member A | Czasami (5–29%) | W 1 chorobie |
| FASFas cell surface death receptor | Czasami (5–29%) | W 1 chorobie |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Czasami (5–29%) | W 1 chorobie |
| FZD4frizzled class receptor 4 | Czasami (5–29%) | W 1 chorobie |
| GP1BBglycoprotein Ib platelet subunit beta | Czasami (5–29%) | W 1 chorobie |
| GSNgelsolin | Czasami (5–29%) | W 1 chorobie |
| GTF2Igeneral transcription factor IIi | Czasami (5–29%) | W 1 chorobie |
| GTF2IRD1GTF2I repeat domain containing 1 | Czasami (5–29%) | W 1 chorobie |
| GTF2IRD2GTF2I repeat domain containing 2 | Czasami (5–29%) | W 1 chorobie |
| GZF1GDNF inducible zinc finger protein 1 | Czasami (5–29%) | W 1 chorobie |
| HCCSholocytochrome c synthase | Czasami (5–29%) | W 1 chorobie |
| HDAC8histone deacetylase 8 | Czasami (5–29%) | W 1 chorobie |
| HGDhomogentisate 1,2-dioxygenase | Czasami (5–29%) | W 1 chorobie |
| HIRAhistone cell cycle regulator | Czasami (5–29%) | W 1 chorobie |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Czasami (5–29%) | W 3 chorobach |
| JMJD1Cjumonji domain containing 1C | Czasami (5–29%) | W 1 chorobie |
| KCNA4potassium voltage-gated channel subfamily A member 4 | Czasami (5–29%) | W 1 chorobie |
| KIF11kinesin family member 11 | Czasami (5–29%) | W 1 chorobie |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Czasami (5–29%) | W 1 chorobie |
| LIMK1LIM domain kinase 1 | Czasami (5–29%) | W 1 chorobie |
| LMBRD2LMBR1 domain containing 2 | Czasami (5–29%) | W 1 chorobie |
| LRP5LDL receptor related protein 5 | Czasami (5–29%) | W 1 chorobie |
| LSM11LSM11, U7 small nuclear RNA associated | Czasami (5–29%) | W 1 chorobie |
| MAFMAF bZIP transcription factor | Czasami (5–29%) | W 1 chorobie |
| MAU2MAU2 sister chromatid cohesion factor | Czasami (5–29%) | W 1 chorobie |
| METTL27methyltransferase like 27 | Czasami (5–29%) | W 1 chorobie |
| NCF1neutrophil cytosolic factor 1 | Czasami (5–29%) | W 1 chorobie |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Czasami (5–29%) | W 1 chorobie |
| NELFAnegative elongation factor complex member A | Czasami (5–29%) | W 1 chorobie |
| NF1neurofibromin 1 | Czasami (5–29%) | W 2 chorobach |
| NFIXnuclear factor I X | Czasami (5–29%) | W 1 chorobie |
| NHSNHS actin remodeling regulator | Czasami (5–29%) | W 2 chorobach |
| NIPBLNIPBL cohesin loading factor | Czasami (5–29%) | W 1 chorobie |
| NLRP3NLR family pyrin domain containing 3 | Czasami (5–29%) | W 1 chorobie |
| NSD2nuclear receptor binding SET domain protein 2 | Czasami (5–29%) | W 1 chorobie |
| PEX1peroxisomal biogenesis factor 1 | Czasami (5–29%) | W 2 chorobach |
| PEX10peroxisomal biogenesis factor 10 | Czasami (5–29%) | W 1 chorobie |
| PEX11Bperoxisomal biogenesis factor 11 beta | Czasami (5–29%) | W 1 chorobie |
| PEX12peroxisomal biogenesis factor 12 | Czasami (5–29%) | W 1 chorobie |
| PEX13peroxisomal biogenesis factor 13 | Czasami (5–29%) | W 1 chorobie |
| PEX14peroxisomal biogenesis factor 14 | Czasami (5–29%) | W 1 chorobie |
| PEX16peroxisomal biogenesis factor 16 | Czasami (5–29%) | W 1 chorobie |
| PEX19peroxisomal biogenesis factor 19 | Czasami (5–29%) | W 1 chorobie |
| PEX2peroxisomal biogenesis factor 2 | Czasami (5–29%) | W 1 chorobie |
| PEX26peroxisomal biogenesis factor 26 | Czasami (5–29%) | W 1 chorobie |
| PEX3peroxisomal biogenesis factor 3 | Czasami (5–29%) | W 1 chorobie |
| PEX5peroxisomal biogenesis factor 5 | Czasami (5–29%) | W 1 chorobie |
| PEX6peroxisomal biogenesis factor 6 | Czasami (5–29%) | W 1 chorobie |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Czasami (5–29%) | W 1 chorobie |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Czasami (5–29%) | W 2 chorobach |
| PRDM5PR/SET domain 5 | Czasami (5–29%) | W 1 chorobie |
| PRR12proline rich 12 | Czasami (5–29%) | W 1 chorobie |
| PTBP1polypyrimidine tract binding protein 1 | Czasami (5–29%) | W 1 chorobie |
| PTCH1patched 1 | Czasami (5–29%) | W 2 chorobach |
| PTCH2patched 2 | Czasami (5–29%) | W 1 chorobie |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Czasami (5–29%) | W 2 chorobach |
| RAD21RAD21 cohesin complex component | Czasami (5–29%) | W 1 chorobie |
| RFC2replication factor C subunit 2 | Czasami (5–29%) | W 1 chorobie |
| RHOAras homolog family member A | Czasami (5–29%) | W 1 chorobie |
| RNASEH2Aribonuclease H2 subunit A | Czasami (5–29%) | W 1 chorobie |
| RNASEH2Bribonuclease H2 subunit B | Czasami (5–29%) | W 1 chorobie |
| RNASEH2Cribonuclease H2 subunit C | Czasami (5–29%) | W 1 chorobie |
| RNU5B-1RNA, U5B small nuclear 1 | Czasami (5–29%) | W 1 chorobie |
| RNU7-1RNA, U7 small nuclear 1 | Czasami (5–29%) | W 1 chorobie |
| RREB1ras responsive element binding protein 1 | Czasami (5–29%) | W 1 chorobie |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Czasami (5–29%) | W 1 chorobie |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Czasami (5–29%) | W 1 chorobie |
| SEC24CSEC24 homolog C, COPII component | Czasami (5–29%) | W 1 chorobie |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Czasami (5–29%) | W 1 chorobie |
| SLC25A4solute carrier family 25 member 4 | Czasami (5–29%) | W 1 chorobie |
| SMC1Astructural maintenance of chromosomes 1A | Czasami (5–29%) | W 1 chorobie |
| SMC3structural maintenance of chromosomes 3 | Czasami (5–29%) | W 1 chorobie |
| STX1Asyntaxin 1A | Czasami (5–29%) | W 1 chorobie |
| SUFUSUFU negative regulator of hedgehog signaling | Czasami (5–29%) | W 1 chorobie |
| TBL2transducin beta like 2 | Czasami (5–29%) | W 1 chorobie |
| TBX1T-box transcription factor 1 | Czasami (5–29%) | W 1 chorobie |
| TGFB1transforming growth factor beta 1 | Czasami (5–29%) | W 1 chorobie |
| TKFCtriokinase and FMN cyclase | Czasami (5–29%) | W 1 chorobie |
| TMEM270transmembrane protein 270 | Czasami (5–29%) | W 1 chorobie |
| TREX1three prime repair exonuclease 1 | Czasami (5–29%) | W 3 chorobach |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Czasami (5–29%) | W 1 chorobie |
| VCANversican | Czasami (5–29%) | W 2 chorobach |
| VPS35LVPS35 endosomal protein sorting factor like | Czasami (5–29%) | W 1 chorobie |
| VPS37DVPS37D subunit of ESCRT-I | Czasami (5–29%) | W 1 chorobie |
| WASHC5WASH complex subunit 5 | Czasami (5–29%) | W 1 chorobie |
| YAP1Yes1 associated transcriptional regulator | Czasami (5–29%) | W 1 chorobie |
| ZFXzinc finger protein X-linked | Czasami (5–29%) | W 1 chorobie |
| ZNF469zinc finger protein 469 | Czasami (5–29%) | W 1 chorobie |
| ACVR1activin A receptor type 1 | Rzadko (1–4%) | W 1 chorobie |
| ADAMTSL2ADAMTS like 2 | Rzadko (1–4%) | W 1 chorobie |
| ANKRD55ankyrin repeat domain 55 | Rzadko (1–4%) | W 1 chorobie |
| CD247CD247 molecule | Rzadko (1–4%) | W 1 chorobie |
| COL8A2collagen type VIII alpha 2 chain | Rzadko (1–4%) | W 1 chorobie |
| GRHL2grainyhead like transcription factor 2 | Rzadko (1–4%) | W 1 chorobie |
| HPD4-hydroxyphenylpyruvate dioxygenase | Rzadko (1–4%) | W 1 chorobie |
| HRASHRas proto-oncogene, GTPase | Rzadko (1–4%) | W 1 chorobie |
| IL2RAinterleukin 2 receptor subunit alpha | Rzadko (1–4%) | W 1 chorobie |
| IL2RBinterleukin 2 receptor subunit beta | Rzadko (1–4%) | W 1 chorobie |
| LTBP3latent transforming growth factor beta binding protein 3 | Rzadko (1–4%) | W 1 chorobie |
| OVOL2ovo like zinc finger 2 | Rzadko (1–4%) | W 2 chorobach |
| PTPN2protein tyrosine phosphatase non-receptor type 2 | Rzadko (1–4%) | W 1 chorobie |
| SKIC2SKI2 subunit of superkiller complex | Rzadko (1–4%) | W 1 chorobie |
| SKIC3SKI3 subunit of superkiller complex | Rzadko (1–4%) | W 1 chorobie |
| STAT4signal transducer and activator of transcription 4 | Rzadko (1–4%) | W 1 chorobie |
| STUB1STIP1 homology and U-box containing protein 1 | Rzadko (1–4%) | W 1 chorobie |
| VSX1visual system homeobox 1 | Rzadko (1–4%) | W 1 chorobie |
| ZEB1zinc finger E-box binding homeobox 1 | Rzadko (1–4%) | W 1 chorobie |
| ATOH7atonal bHLH transcription factor 7 | Nie odnotowano | W 1 chorobie |
| CCDC28Bcoiled-coil domain containing 28B | Nie odnotowano | W 1 chorobie |
| CHRDL1chordin like 1 | Nie odnotowano | W 1 chorobie |
| CRYAAcrystallin alpha A | Nie odnotowano | W 1 chorobie |
| EBPEBP cholestenol delta-isomerase | Nie odnotowano | W 1 chorobie |
| FREM2FRAS1 related extracellular matrix 2 | Nie odnotowano | W 1 chorobie |
| LMX1BLIM homeobox transcription factor 1 beta | Nie odnotowano | W 1 chorobie |
| LOXL1lysyl oxidase like 1 | Nie odnotowano | W 1 chorobie |
| MASP1MBL associated serine protease 1 | Nie odnotowano | W 1 chorobie |
| RECQL4RecQ like helicase 4 | Nie odnotowano | W 1 chorobie |
| TIMP3TIMP metallopeptidase inhibitor 3 | Nie odnotowano | W 1 chorobie |
| ZMIZ1zinc finger MIZ-type containing 1 | Nie odnotowano | W 1 chorobie |
Jak często występuje wśród osób z jedną z chorób związanych z tym genem, najczęściej spośród wszystkich, według danych Human Phenotype Ontology. Te strony opisują cechy i badania, na których się opierają; nie są diagnozą, a w sprawie objawów należy zwrócić się do lekarza lub doradcy genetycznego.
Cechy podrzędne
Cechy nadrzędne
Skąd pochodzą te dane
- Human Phenotype Ontology, wydanie 2026-09-01: cecha, jej nazwy, definicja oraz geny z nią powiązane. Więcej informacji znajdą Państwo na stronie hpo.jax.org.
- Wydanie danych 2026.10.16-c6eea6bf.
Jeden test. Odpowiedzi na całe życie.
Od 449 $Bezpłatna wysyłka · Wyniki w ciągu 6–8 tygodni