Kellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiAlustaalates 449 $
Tunnus
Visual impairment
Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.
Kokkuvõte
- Teised nimetused
- Impaired vision, Loss of eyesight, Poor vision
- Kehasüsteem
- Abnormality of the eye
Kellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiAlustaalates 449 $
This page as data
Add .json to the page's address, or ask for application/json, to read it as JSON.
library(jsonlite)
url <- "https://dantelabs.com/traits/visual-impairment.json"
page <- fromJSON(url)
page$trait$nameVisual impairmentHP:0000505
Kellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiAlustaalates 449 $
Lugege välja geenid, mis on seotud Visual impairment-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test600 geeni on seotud tunnusega Visual impairment
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Visual impairment. Enamikul selle tunnusega inimestest ei ole ühtegi neist haigustest. Selles loendis olev geen ei ütle midagi kellegi enda genoomi kohta.
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| ACO2aconitase 2 | Alati | Esineb 1 haiguses |
| AFG2AAAA ATPase AFG2A | Alati | Esineb 2 haiguses |
| AIMP1aminoacyl tRNA synthetase complex interacting multifunctional protein 1 | Alati | Esineb 1 haiguses |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Alati | Esineb 1 haiguses |
| ALMS1ALMS1 centrosome and basal body associated protein | Alati | Esineb 2 haiguses |
| ARL6ARF like GTPase 6 | Alati | Esineb 2 haiguses |
| ASPAaspartoacylase | Alati | Esineb 1 haiguses |
| ASPHaspartate beta-hydroxylase | Alati | Esineb 1 haiguses |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Alati | Esineb 1 haiguses |
| CARS2cysteinyl-tRNA synthetase 2, mitochondrial | Alati | Esineb 1 haiguses |
| CEP290centrosomal protein 290 | Alati | Esineb 4 haiguses |
| CEP78centrosomal protein 78 | Alati | Esineb 1 haiguses |
| CHMCHM Rab escort protein | Alati | Esineb 2 haiguses |
| CNNM4cyclin and CBS domain divalent metal cation transport mediator 4 | Alati | Esineb 2 haiguses |
| COL18A1collagen type XVIII alpha 1 chain | Alati | Esineb 1 haiguses |
| CRXcone-rod homeobox | Alati | Esineb 3 haiguses |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Alati | Esineb 1 haiguses |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Alati | Esineb 1 haiguses |
| EIF4A2eukaryotic translation initiation factor 4A2 | Alati | Esineb 1 haiguses |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Alati | Esineb 3 haiguses |
| FCSKfucose kinase | Alati | Esineb 1 haiguses |
| FDXRferredoxin reductase | Alati | Esineb 3 haiguses |
| GRNgranulin precursor | Alati | Esineb 1 haiguses |
| GTPBP2GTP binding protein 2 | Alati | Esineb 1 haiguses |
| HARS1histidyl-tRNA synthetase 1 | Alati | Esineb 1 haiguses |
| HKDC1hexokinase domain containing 1 | Alati | Esineb 2 haiguses |
| IDH3Bisocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | Alati | Esineb 2 haiguses |
| IFT74intraflagellar transport 74 | Alati | Esineb 1 haiguses |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Alati | Esineb 1 haiguses |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Alati | Esineb 1 haiguses |
| LRRC8Cleucine rich repeat containing 8 VRAC subunit C | Alati | Esineb 1 haiguses |
| LZTFL1leucine zipper transcription factor like 1 | Alati | Esineb 1 haiguses |
| MFSD8major facilitator superfamily domain containing 8 | Alati | Esineb 2 haiguses |
| MICOS13mitochondrial contact site and cristae organizing system subunit 13 | Alati | Esineb 2 haiguses |
| NAPBNSF attachment protein beta | Alati | Esineb 1 haiguses |
| NCAPG2non-SMC condensin II complex subunit G2 | Alati | Esineb 1 haiguses |
| NLRP1NLR family pyrin domain containing 1 | Alati | Esineb 1 haiguses |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Alati | Esineb 2 haiguses |
| OATornithine aminotransferase | Alati | Esineb 1 haiguses |
| OPA1OPA1 mitochondrial dynamin like GTPase | Alati | Esineb 4 haiguses |
Näita veel 560 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Alati | Esineb 3 haiguses |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Alati | Esineb 2 haiguses |
| PAX6paired box 6 | Alati | Esineb 3 haiguses |
| PCDH12protocadherin 12 | Alati | Esineb 1 haiguses |
| PDE6Aphosphodiesterase 6A | Alati | Esineb 2 haiguses |
| PRPF6pre-mRNA processing factor 6 | Alati | Esineb 2 haiguses |
| PRPH2peripherin 2 | Alati | Esineb 6 haiguses |
| RBP3retinol binding protein 3 | Alati | Esineb 2 haiguses |
| RNU2-2RNA, U2 small nuclear 2 | Alati | Esineb 1 haiguses |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Alati | Esineb 2 haiguses |
| SCO2synthesis of cytochrome C oxidase 2 | Alati | Esineb 1 haiguses |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Alati | Esineb 2 haiguses |
| SDHDsuccinate dehydrogenase complex subunit D | Alati | Esineb 1 haiguses |
| SFXN4sideroflexin 4 | Alati | Esineb 1 haiguses |
| SLC24A5solute carrier family 24 member 5 | Alati | Esineb 1 haiguses |
| TBC1D20TBC1 domain family member 20 | Alati | Esineb 1 haiguses |
| TENM3teneurin transmembrane protein 3 | Alati | Esineb 1 haiguses |
| TGFBItransforming growth factor beta induced | Alati | Esineb 4 haiguses |
| TMEM53transmembrane protein 53 | Alati | Esineb 1 haiguses |
| TMEM63Btransmembrane protein 63B | Alati | Esineb 1 haiguses |
| TSEN2tRNA splicing endonuclease subunit 2 | Alati | Esineb 1 haiguses |
| TUBTUB bipartite transcription factor | Alati | Esineb 2 haiguses |
| VPS4Avacuolar protein sorting 4 homolog A | Alati | Esineb 1 haiguses |
| WDR19WD repeat domain 19 | Alati | Esineb 3 haiguses |
| YME1L1YME1 like 1 ATPase | Alati | Esineb 1 haiguses |
| ZFXzinc finger protein X-linked | Alati | Esineb 1 haiguses |
| ABCA4ATP binding cassette subfamily A member 4 | Väga sageli (80–99%) | Esineb 3 haiguses |
| AGBL5AGBL carboxypeptidase 5 | Väga sageli (80–99%) | Esineb 1 haiguses |
| AHI1Abelson helper integration site 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| AHRaryl hydrocarbon receptor | Väga sageli (80–99%) | Esineb 1 haiguses |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| ARHGEF18Rho/Rac guanine nucleotide exchange factor 18 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ARL2BPARF like GTPase 2 binding protein | Väga sageli (80–99%) | Esineb 1 haiguses |
| ARL3ARF like GTPase 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ARNT2aryl hydrocarbon receptor nuclear translocator 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| BBS1Bardet-Biedl syndrome 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| BBS2Bardet-Biedl syndrome 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| BEST1bestrophin 1 | Väga sageli (80–99%) | Esineb 4 haiguses |
| CA4carbonic anhydrase 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CC2D2Acoiled-coil and C2 domain containing 2A | Väga sageli (80–99%) | Esineb 3 haiguses |
| CDHR1cadherin related family member 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| CEP164centrosomal protein 164 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CERKLCERK like autophagy regulator | Väga sageli (80–99%) | Esineb 2 haiguses |
| CFAP20cilia and flagella associated protein 20 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CFAP418cilia and flagella associated protein 418 | Väga sageli (80–99%) | Esineb 2 haiguses |
| CLCN7Cl-/H+ antiporter 7 | Väga sageli (80–99%) | Esineb 4 haiguses |
| CLN8CLN8 transmembrane ER and ERGIC protein | Väga sageli (80–99%) | Esineb 1 haiguses |
| CLRN1clarin 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| CNGA1cyclic nucleotide gated channel subunit alpha 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CNGB1cyclic nucleotide gated channel subunit beta 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CNGB3cyclic nucleotide gated channel subunit beta 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| COQ8Bcoenzyme Q8B | Väga sageli (80–99%) | Esineb 1 haiguses |
| CRB1crumbs cell polarity complex component 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CRPPACDP-L-ribitol pyrophosphorylase A | Väga sageli (80–99%) | Esineb 1 haiguses |
| CTNScystinosin, lysosomal cystine transporter | Väga sageli (80–99%) | Esineb 2 haiguses |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Väga sageli (80–99%) | Esineb 1 haiguses |
| DHX38DEAH-box helicase 38 | Väga sageli (80–99%) | Esineb 1 haiguses |
| DNM1Ldynamin 1L | Väga sageli (80–99%) | Esineb 1 haiguses |
| EXOSC8exosome component 8 | Väga sageli (80–99%) | Esineb 1 haiguses |
| EYSEGF-like photoreceptor maintenance factor | Väga sageli (80–99%) | Esineb 1 haiguses |
| FAM161AFAM161 centrosomal protein A | Väga sageli (80–99%) | Esineb 1 haiguses |
| FGFR1fibroblast growth factor receptor 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| FKRPfukutin related protein | Väga sageli (80–99%) | Esineb 1 haiguses |
| FKTNfukutin | Väga sageli (80–99%) | Esineb 2 haiguses |
| FSCN2fascin actin-bundling protein 2, retinal | Väga sageli (80–99%) | Esineb 2 haiguses |
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Väga sageli (80–99%) | Esineb 2 haiguses |
| GMPPBGDP-mannose pyrophosphorylase B | Väga sageli (80–99%) | Esineb 1 haiguses |
| GNAT2G protein subunit alpha transducin 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| GUCA1Aguanylate cyclase activator 1A | Väga sageli (80–99%) | Esineb 3 haiguses |
| GUCA1Bguanylate cyclase activator 1B | Väga sageli (80–99%) | Esineb 2 haiguses |
| HESX1HESX homeobox 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Väga sageli (80–99%) | Esineb 1 haiguses |
| HSPG2heparan sulfate proteoglycan 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| IDH3Aisocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha | Väga sageli (80–99%) | Esineb 1 haiguses |
| IFT140intraflagellar transport 140 | Väga sageli (80–99%) | Esineb 1 haiguses |
| IFT172intraflagellar transport 172 | Väga sageli (80–99%) | Esineb 1 haiguses |
| IFT43intraflagellar transport 43 | Väga sageli (80–99%) | Esineb 1 haiguses |
| IFT54intraflagellar transport 54 | Väga sageli (80–99%) | Esineb 1 haiguses |
| IFT88intraflagellar transport 88 | Väga sageli (80–99%) | Esineb 1 haiguses |
| IMPDH1inosine monophosphate dehydrogenase 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| IMPG1interphotoreceptor matrix proteoglycan 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| IMPG2interphotoreceptor matrix proteoglycan 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| INPP5Einositol polyphosphate-5-phosphatase E | Väga sageli (80–99%) | Esineb 2 haiguses |
| INVSinversin | Väga sageli (80–99%) | Esineb 1 haiguses |
| IQCB1IQ motif containing B1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| KIAA1549KIAA1549 | Väga sageli (80–99%) | Esineb 1 haiguses |
| KIZkizuna centrosomal protein | Väga sageli (80–99%) | Esineb 1 haiguses |
| KLHL7kelch like family member 7 | Väga sageli (80–99%) | Esineb 1 haiguses |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| LRATlecithin retinol acyltransferase | Väga sageli (80–99%) | Esineb 2 haiguses |
| LSSlanosterol synthase | Väga sageli (80–99%) | Esineb 1 haiguses |
| MAKmale germ cell associated kinase | Väga sageli (80–99%) | Esineb 1 haiguses |
| MERTKMER proto-oncogene, tyrosine kinase | Väga sageli (80–99%) | Esineb 1 haiguses |
| MTRFRmitochondrial translation release factor in rescue | Väga sageli (80–99%) | Esineb 2 haiguses |
| NEK2NIMA related kinase 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NEU1neuraminidase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NHSNHS actin remodeling regulator | Väga sageli (80–99%) | Esineb 1 haiguses |
| NPHP1nephrocystin 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NPHP3nephrocystin 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NPHP4nephrocystin 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NR2E3nuclear receptor subfamily 2 group E member 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NRLneural retina leucine zipper | Väga sageli (80–99%) | Esineb 2 haiguses |
| OFD1OFD1 centriole and centriolar satellite protein | Väga sageli (80–99%) | Esineb 1 haiguses |
| OTX2orthodenticle homeobox 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| PCAREphotoreceptor cilium actin regulator | Väga sageli (80–99%) | Esineb 2 haiguses |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Väga sageli (80–99%) | Esineb 1 haiguses |
| PDE6Bphosphodiesterase 6B | Väga sageli (80–99%) | Esineb 1 haiguses |
| PDE6Cphosphodiesterase 6C | Väga sageli (80–99%) | Esineb 2 haiguses |
| PDE6Gphosphodiesterase 6G | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX1peroxisomal biogenesis factor 1 | Väga sageli (80–99%) | Esineb 3 haiguses |
| PEX10peroxisomal biogenesis factor 10 | Väga sageli (80–99%) | Esineb 4 haiguses |
| PEX11Bperoxisomal biogenesis factor 11 beta | Väga sageli (80–99%) | Esineb 3 haiguses |
| PEX12peroxisomal biogenesis factor 12 | Väga sageli (80–99%) | Esineb 3 haiguses |
| PEX13peroxisomal biogenesis factor 13 | Väga sageli (80–99%) | Esineb 3 haiguses |
| PEX14peroxisomal biogenesis factor 14 | Väga sageli (80–99%) | Esineb 3 haiguses |
| PEX16peroxisomal biogenesis factor 16 | Väga sageli (80–99%) | Esineb 4 haiguses |
| PEX19peroxisomal biogenesis factor 19 | Väga sageli (80–99%) | Esineb 3 haiguses |
| PEX2peroxisomal biogenesis factor 2 | Väga sageli (80–99%) | Esineb 4 haiguses |
| PEX26peroxisomal biogenesis factor 26 | Väga sageli (80–99%) | Esineb 4 haiguses |
| PEX3peroxisomal biogenesis factor 3 | Väga sageli (80–99%) | Esineb 3 haiguses |
| PEX5peroxisomal biogenesis factor 5 | Väga sageli (80–99%) | Esineb 3 haiguses |
| PEX6peroxisomal biogenesis factor 6 | Väga sageli (80–99%) | Esineb 4 haiguses |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Väga sageli (80–99%) | Esineb 2 haiguses |
| POMT1protein O-mannosyltransferase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| POMT2protein O-mannosyltransferase 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PPIBpeptidylprolyl isomerase B | Väga sageli (80–99%) | Esineb 1 haiguses |
| PRCDphotoreceptor disc component | Väga sageli (80–99%) | Esineb 1 haiguses |
| PROKR2prokineticin receptor 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| PROM1prominin 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| PRPF3pre-mRNA processing factor 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PRPF31pre-mRNA processing factor 31 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PRPF4pre-mRNA splicing tri-snRNP complex factor PRPF4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PRPF8pre-mRNA processing factor 8 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RDH12retinol dehydrogenase 12 | Väga sageli (80–99%) | Esineb 1 haiguses |
| REEP6receptor accessory protein 6 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RGRretinal G protein coupled receptor | Väga sageli (80–99%) | Esineb 2 haiguses |
| RGS9regulator of G protein signaling 9 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RGS9BPregulator of G protein signaling 9 binding protein | Väga sageli (80–99%) | Esineb 1 haiguses |
| RHOrhodopsin | Väga sageli (80–99%) | Esineb 1 haiguses |
| RLBP1retinaldehyde binding protein 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Väga sageli (80–99%) | Esineb 1 haiguses |
| RNU4-2RNA, U4 small nuclear 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RNU6-1RNA, U6 small nuclear 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RNU6-2RNA, U6 small nuclear 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RNU6-8RNA, U6 small nuclear 8 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RNU6-9RNA, U6 small nuclear 9 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ROM1retinal outer segment membrane protein 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RP1RP1 axonemal microtubule associated | Väga sageli (80–99%) | Esineb 1 haiguses |
| RP1L1RP1 like 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RP2RP2 activator of ARL3 GTPase | Väga sageli (80–99%) | Esineb 1 haiguses |
| RP9RP9 pre-mRNA splicing factor | Väga sageli (80–99%) | Esineb 1 haiguses |
| RPE65retinoid isomerohydrolase RPE65 | Väga sageli (80–99%) | Esineb 3 haiguses |
| RPGRretinitis pigmentosa GTPase regulator | Väga sageli (80–99%) | Esineb 3 haiguses |
| SAGS-antigen visual arrestin | Väga sageli (80–99%) | Esineb 3 haiguses |
| SAXO6stabilizer of axonemal microtubules 6 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SCAPERS-phase cyclin A associated protein in the ER | Väga sageli (80–99%) | Esineb 1 haiguses |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SEMA4Asemaphorin 4A | Väga sageli (80–99%) | Esineb 3 haiguses |
| SLC38A3solute carrier family 38 member 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SLC4A11solute carrier family 4 member 11 | Väga sageli (80–99%) | Esineb 2 haiguses |
| SLC7A14solute carrier family 7 member 14 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SNRNP200small nuclear ribonucleoprotein U5 subunit 200 | Väga sageli (80–99%) | Esineb 2 haiguses |
| SNX10sorting nexin 10 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SOX2SRY-box transcription factor 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SOX3SRY-box transcription factor 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SPATA7spermatogenesis associated 7 | Väga sageli (80–99%) | Esineb 2 haiguses |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Väga sageli (80–99%) | Esineb 1 haiguses |
| SUMF1sulfatase modifying factor 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Väga sageli (80–99%) | Esineb 3 haiguses |
| TMEM216transmembrane protein 216 | Väga sageli (80–99%) | Esineb 3 haiguses |
| TNFSF11TNF superfamily member 11 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Väga sageli (80–99%) | Esineb 1 haiguses |
| TSEN54tRNA splicing endonuclease subunit 54 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TTC8tetratricopeptide repeat domain 8 | Väga sageli (80–99%) | Esineb 2 haiguses |
| TULP1TUB like protein 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| USH2Ausherin | Väga sageli (80–99%) | Esineb 2 haiguses |
| WACWW domain containing adaptor with coiled-coil | Väga sageli (80–99%) | Esineb 1 haiguses |
| ZNF408zinc finger protein 408 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ZNF513zinc finger protein 513 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ABCC6ATP binding cassette subfamily C member 6 | Sageli (30–79%) | Esineb 3 haiguses |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Sageli (30–79%) | Esineb 1 haiguses |
| AMACRalpha-methylacyl-CoA racemase | Sageli (30–79%) | Esineb 1 haiguses |
| ANTXR1ANTXR cell adhesion molecule 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ARID1AAT-rich interaction domain 1A | Sageli (30–79%) | Esineb 2 haiguses |
| ARID1BAT-rich interaction domain 1B | Sageli (30–79%) | Esineb 2 haiguses |
| ARID2AT-rich interaction domain 2 | Sageli (30–79%) | Esineb 1 haiguses |
| ATP6V0A1ATPase H+ transporting V0 subunit a1 | Sageli (30–79%) | Esineb 1 haiguses |
| ATRXATRX chromatin remodeler | Sageli (30–79%) | Esineb 1 haiguses |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Sageli (30–79%) | Esineb 1 haiguses |
| BCL11ABCL11 transcription factor A | Sageli (30–79%) | Esineb 1 haiguses |
| BDNFbrain derived neurotrophic factor | Sageli (30–79%) | Esineb 1 haiguses |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Sageli (30–79%) | Esineb 1 haiguses |
| CABP4calcium binding protein 4 | Sageli (30–79%) | Esineb 2 haiguses |
| CASKcalcium/calmodulin dependent serine protein kinase | Sageli (30–79%) | Esineb 1 haiguses |
| CCT3chaperonin containing TCP1 subunit 3 | Sageli (30–79%) | Esineb 1 haiguses |
| CHD6chromodomain helicase DNA binding protein 6 | Sageli (30–79%) | Esineb 1 haiguses |
| CLIP2CAP-Gly domain containing linker protein 2 | Sageli (30–79%) | Esineb 1 haiguses |
| COG3component of oligomeric golgi complex 3 | Sageli (30–79%) | Esineb 1 haiguses |
| COL11A1collagen type XI alpha 1 chain | Sageli (30–79%) | Esineb 1 haiguses |
| COQ4coenzyme Q4 | Sageli (30–79%) | Esineb 1 haiguses |
| COX11cytochrome c oxidase copper chaperone COX11 | Sageli (30–79%) | Esineb 1 haiguses |
| CYP1B1cytochrome P450 family 1 subfamily B member 1 | Sageli (30–79%) | Esineb 1 haiguses |
| CYP4V2cytochrome P450 family 4 subfamily V member 2 | Sageli (30–79%) | Esineb 1 haiguses |
| DCCDCC netrin 1 receptor | Sageli (30–79%) | Esineb 2 haiguses |
| DDR2discoidin domain receptor tyrosine kinase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Sageli (30–79%) | Esineb 1 haiguses |
| DOCK6dedicator of cytokinesis 6 | Sageli (30–79%) | Esineb 1 haiguses |
| DPF2double PHD fingers 2 | Sageli (30–79%) | Esineb 1 haiguses |
| EFEMP1EGF-like fibulin extracellular matrix protein 1 | Sageli (30–79%) | Esineb 2 haiguses |
| EIF4Heukaryotic translation initiation factor 4H | Sageli (30–79%) | Esineb 1 haiguses |
| ELNelastin | Sageli (30–79%) | Esineb 1 haiguses |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Sageli (30–79%) | Esineb 2 haiguses |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Sageli (30–79%) | Esineb 1 haiguses |
| ERCC5ERCC excision repair 5, endonuclease | Sageli (30–79%) | Esineb 1 haiguses |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Sageli (30–79%) | Esineb 3 haiguses |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Sageli (30–79%) | Esineb 2 haiguses |
| FASFas cell surface death receptor | Sageli (30–79%) | Esineb 1 haiguses |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Sageli (30–79%) | Esineb 1 haiguses |
| GJA1gap junction protein alpha 1 | Sageli (30–79%) | Esineb 2 haiguses |
| GLRX5glutaredoxin 5 | Sageli (30–79%) | Esineb 2 haiguses |
| GNSglucosamine (N-acetyl)-6-sulfatase | Sageli (30–79%) | Esineb 1 haiguses |
| GSNgelsolin | Sageli (30–79%) | Esineb 1 haiguses |
| GTF2Igeneral transcription factor IIi | Sageli (30–79%) | Esineb 1 haiguses |
| GTF2IRD1GTF2I repeat domain containing 1 | Sageli (30–79%) | Esineb 1 haiguses |
| GTF2IRD2GTF2I repeat domain containing 2 | Sageli (30–79%) | Esineb 1 haiguses |
| GUCY2Dguanylate cyclase 2D, retinal | Sageli (30–79%) | Esineb 2 haiguses |
| GUSBglucuronidase beta | Sageli (30–79%) | Esineb 1 haiguses |
| HIKESHIheat shock protein nuclear import factor hikeshi | Sageli (30–79%) | Esineb 1 haiguses |
| HLA-Bmajor histocompatibility complex, class I, B | Sageli (30–79%) | Esineb 3 haiguses |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Sageli (30–79%) | Esineb 2 haiguses |
| HPDL4-hydroxyphenylpyruvate dioxygenase like | Sageli (30–79%) | Esineb 1 haiguses |
| IBA57iron-sulfur cluster assembly factor IBA57 | Sageli (30–79%) | Esineb 4 haiguses |
| IGBP1immunoglobulin binding protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| JKAMPJNK1/MAPK8 associated membrane protein | Sageli (30–79%) | Esineb 1 haiguses |
| KCNJ13potassium inwardly rectifying channel subfamily J member 13 | Sageli (30–79%) | Esineb 2 haiguses |
| LAMP2lysosome associated membrane protein 2 | Sageli (30–79%) | Esineb 1 haiguses |
| LCA5lebercilin LCA5 | Sageli (30–79%) | Esineb 2 haiguses |
| LIMK1LIM domain kinase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| LYRM7LYR motif containing 7 | Sageli (30–79%) | Esineb 1 haiguses |
| MAB21L1mab-21 like 1 | Sageli (30–79%) | Esineb 2 haiguses |
| MAFMAF bZIP transcription factor | Sageli (30–79%) | Esineb 1 haiguses |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Sageli (30–79%) | Esineb 1 haiguses |
| METTL27methyltransferase like 27 | Sageli (30–79%) | Esineb 1 haiguses |
| MFFmitochondrial fission factor | Sageli (30–79%) | Esineb 2 haiguses |
| MMACHCmetabolism of cobalamin associated C | Sageli (30–79%) | Esineb 2 haiguses |
| MYOCmyocilin | Sageli (30–79%) | Esineb 1 haiguses |
| NCF1neutrophil cytosolic factor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| NLRP3NLR family pyrin domain containing 3 | Sageli (30–79%) | Esineb 1 haiguses |
| P4HA2prolyl 4-hydroxylase subunit alpha 2 | Sageli (30–79%) | Esineb 1 haiguses |
| PAX2paired box 2 | Sageli (30–79%) | Esineb 1 haiguses |
| PEPDpeptidase D | Sageli (30–79%) | Esineb 1 haiguses |
| PEX7peroxisomal biogenesis factor 7 | Sageli (30–79%) | Esineb 1 haiguses |
| PHYHphytanoyl-CoA 2-hydroxylase | Sageli (30–79%) | Esineb 1 haiguses |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Sageli (30–79%) | Esineb 1 haiguses |
| PIGSphosphatidylinositol glycan anchor biosynthesis class S | Sageli (30–79%) | Esineb 1 haiguses |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Sageli (30–79%) | Esineb 1 haiguses |
| PLK4polo like kinase 4 | Sageli (30–79%) | Esineb 2 haiguses |
| POGZpogo transposable element derived with ZNF domain | Sageli (30–79%) | Esineb 2 haiguses |
| POLR1BRNA polymerase I subunit B | Sageli (30–79%) | Esineb 1 haiguses |
| POLR1CRNA polymerase I and III subunit C | Sageli (30–79%) | Esineb 1 haiguses |
| POLR1DRNA polymerase I and III subunit D | Sageli (30–79%) | Esineb 1 haiguses |
| POLR2ARNA polymerase II subunit A | Sageli (30–79%) | Esineb 1 haiguses |
| PPP2R1Aprotein phosphatase 2 scaffold subunit Aalpha | Sageli (30–79%) | Esineb 1 haiguses |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Sageli (30–79%) | Esineb 3 haiguses |
| RELREL proto-oncogene, NF-kB subunit | Sageli (30–79%) | Esineb 1 haiguses |
| RFC2replication factor C subunit 2 | Sageli (30–79%) | Esineb 1 haiguses |
| RFT1RFT1 glycolipid translocator homolog | Sageli (30–79%) | Esineb 1 haiguses |
| ROBO3roundabout guidance receptor 3 | Sageli (30–79%) | Esineb 1 haiguses |
| RPGRIP1LRPGRIP1 like | Sageli (30–79%) | Esineb 1 haiguses |
| RTN2reticulon 2 | Sageli (30–79%) | Esineb 1 haiguses |
| SALL4spalt like transcription factor 4 | Sageli (30–79%) | Esineb 1 haiguses |
| SETBP1SET binding protein 1 | Sageli (30–79%) | Esineb 2 haiguses |
| SETD1ASET domain containing 1A, histone lysine methyltransferase | Sageli (30–79%) | Esineb 1 haiguses |
| SLC25A46solute carrier family 25 member 46 | Sageli (30–79%) | Esineb 1 haiguses |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Sageli (30–79%) | Esineb 2 haiguses |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Sageli (30–79%) | Esineb 2 haiguses |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Sageli (30–79%) | Esineb 1 haiguses |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Sageli (30–79%) | Esineb 1 haiguses |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Sageli (30–79%) | Esineb 1 haiguses |
| SMG9SMG9 nonsense mediated mRNA decay factor | Sageli (30–79%) | Esineb 1 haiguses |
| SOX11SRY-box transcription factor 11 | Sageli (30–79%) | Esineb 1 haiguses |
| SOX4SRY-box transcription factor 4 | Sageli (30–79%) | Esineb 1 haiguses |
| SRSF1serine and arginine rich splicing factor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| STX1Asyntaxin 1A | Sageli (30–79%) | Esineb 1 haiguses |
| SYNJ1synaptojanin 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TBL2transducin beta like 2 | Sageli (30–79%) | Esineb 1 haiguses |
| TCOF1treacle ribosome biogenesis factor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Sageli (30–79%) | Esineb 2 haiguses |
| TMEM138transmembrane protein 138 | Sageli (30–79%) | Esineb 1 haiguses |
| TMEM231transmembrane protein 231 | Sageli (30–79%) | Esineb 1 haiguses |
| TMEM237transmembrane protein 237 | Sageli (30–79%) | Esineb 1 haiguses |
| TMEM270transmembrane protein 270 | Sageli (30–79%) | Esineb 1 haiguses |
| TMEM67transmembrane protein 67 | Sageli (30–79%) | Esineb 1 haiguses |
| TSPAN12tetraspanin 12 | Sageli (30–79%) | Esineb 1 haiguses |
| TUBGCP4tubulin gamma complex component 4 | Sageli (30–79%) | Esineb 2 haiguses |
| TUBGCP6tubulin gamma complex component 6 | Sageli (30–79%) | Esineb 2 haiguses |
| TWIST2twist family bHLH transcription factor 2 | Sageli (30–79%) | Esineb 1 haiguses |
| TYRtyrosinase | Sageli (30–79%) | Esineb 4 haiguses |
| VPS37DVPS37D subunit of ESCRT-I | Sageli (30–79%) | Esineb 1 haiguses |
| WT1WT1 transcription factor | Sageli (30–79%) | Esineb 1 haiguses |
| XPO1exportin 1 | Sageli (30–79%) | Esineb 1 haiguses |
| XYLT1xylosyltransferase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| XYLT2xylosyltransferase 2 | Sageli (30–79%) | Esineb 2 haiguses |
| ZNF423zinc finger protein 423 | Sageli (30–79%) | Esineb 1 haiguses |
| ZSCAN10zinc finger and SCAN domain containing 10 | Sageli (30–79%) | Esineb 1 haiguses |
| AAASaladin WD repeat nucleoporin | Mõnikord (5–29%) | Esineb 1 haiguses |
| ADAM9ADAM metallopeptidase domain 9 | Mõnikord (5–29%) | Esineb 2 haiguses |
| ADAMTSL4ADAMTS like 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| AGO2argonaute RISC catalytic component 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| AIPL1AIP like 1 HSP90 co-chaperone | Mõnikord (5–29%) | Esineb 1 haiguses |
| ANKHANKH inorganic pyrophosphate transport regulator | Mõnikord (5–29%) | Esineb 1 haiguses |
| ANKRD11ankyrin repeat domain 11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ANOS1anosmin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATF6activating transcription factor 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATMATM serine/threonine kinase | Mõnikord (5–29%) | Esineb 1 haiguses |
| B3GLCTbeta 3-glucosyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| BCL10BCL10 immune signaling adaptor | Mõnikord (5–29%) | Esineb 1 haiguses |
| BCORBCL6 corepressor | Mõnikord (5–29%) | Esineb 1 haiguses |
| BIRC3baculoviral IAP repeat containing 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BMPR1Abone morphogenetic protein receptor type 1A | Mõnikord (5–29%) | Esineb 1 haiguses |
| BOLA3bolA family member 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BRCA1BRCA1 DNA repair associated | Mõnikord (5–29%) | Esineb 1 haiguses |
| BRCA2BRCA2 DNA repair associated | Mõnikord (5–29%) | Esineb 2 haiguses |
| BRIP1BRCA1 interacting DNA helicase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CACNA1Fcalcium voltage-gated channel subunit alpha1 F | Mõnikord (5–29%) | Esineb 3 haiguses |
| CACNA2D4calcium voltage-gated channel auxiliary subunit alpha2delta 4 | Mõnikord (5–29%) | Esineb 2 haiguses |
| CALRcalreticulin | Mõnikord (5–29%) | Esineb 1 haiguses |
| CASZ1castor zinc finger 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CBScystathionine beta-synthase | Mõnikord (5–29%) | Esineb 1 haiguses |
| CCDC141coiled-coil domain containing 141 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CDK8cyclin dependent kinase 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CFAP410cilia and flagella associated protein 410 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CHD7chromodomain helicase DNA binding protein 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CHEK2checkpoint kinase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CLTCclathrin heavy chain | Mõnikord (5–29%) | Esineb 1 haiguses |
| CNGA3cyclic nucleotide gated channel subunit alpha 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| COL2A1collagen type II alpha 1 chain | Mõnikord (5–29%) | Esineb 1 haiguses |
| COX7Bcytochrome c oxidase subunit 7B | Mõnikord (5–29%) | Esineb 1 haiguses |
| CSF1Rcolony stimulating factor 1 receptor | Mõnikord (5–29%) | Esineb 1 haiguses |
| CTLA4cytotoxic T-lymphocyte associated protein 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DDX3XDEAD-box helicase 3 X-linked | Mõnikord (5–29%) | Esineb 1 haiguses |
| DOLKdolichol kinase | Mõnikord (5–29%) | Esineb 1 haiguses |
| DRAM2DNA damage regulated autophagy modulator 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DUSP6dual specificity phosphatase 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| EMX2empty spiracles homeobox 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| EPCAMepithelial cell adhesion molecule | Mõnikord (5–29%) | Esineb 1 haiguses |
| FAAP100FA core complex associated protein 100 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FANCAFA complementation group A | Mõnikord (5–29%) | Esineb 1 haiguses |
| FANCBFA complementation group B | Mõnikord (5–29%) | Esineb 1 haiguses |
| FANCCFA complementation group C | Mõnikord (5–29%) | Esineb 1 haiguses |
| FANCD2FA complementation group D2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FANCEFA complementation group E | Mõnikord (5–29%) | Esineb 1 haiguses |
| FANCFFA complementation group F | Mõnikord (5–29%) | Esineb 1 haiguses |
| FANCGFA complementation group G | Mõnikord (5–29%) | Esineb 1 haiguses |
| FANCIFA complementation group I | Mõnikord (5–29%) | Esineb 1 haiguses |
| FANCLFA complementation group L | Mõnikord (5–29%) | Esineb 1 haiguses |
| FANCMFA complementation group M | Mõnikord (5–29%) | Esineb 1 haiguses |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Mõnikord (5–29%) | Esineb 1 haiguses |
| FBN1fibrillin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FBXO22F-box protein 22 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FEZF1FEZ family zinc finger 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FGF17fibroblast growth factor 17 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FGF8fibroblast growth factor 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FGFR2fibroblast growth factor receptor 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| FGFR3fibroblast growth factor receptor 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FIG4FIG4 phosphoinositide 5-phosphatase | Mõnikord (5–29%) | Esineb 1 haiguses |
| FILIP1filamin A interacting protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FLRT3fibronectin leucine rich transmembrane protein 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FN1fibronectin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FOXP1forkhead box P1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FXNfrataxin | Mõnikord (5–29%) | Esineb 1 haiguses |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Mõnikord (5–29%) | Esineb 1 haiguses |
| GALCgalactosylceramidase | Mõnikord (5–29%) | Esineb 1 haiguses |
| GMPPAGDP-mannose pyrophosphorylase A | Mõnikord (5–29%) | Esineb 1 haiguses |
| GPAA1glycosylphosphatidylinositol anchor attachment 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| GPR143G protein-coupled receptor 143 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GTPBP3GTP binding protein 3, mitochondrial | Mõnikord (5–29%) | Esineb 2 haiguses |
| HLA-DPA1major histocompatibility complex, class II, DP alpha 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HLA-DPB1major histocompatibility complex, class II, DP beta 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HS6ST1heparan sulfate 6-O-sulfotransferase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IGHimmunoglobulin heavy locus | Mõnikord (5–29%) | Esineb 1 haiguses |
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Mõnikord (5–29%) | Esineb 1 haiguses |
| IKZF1IKAROS family zinc finger 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IL12Binterleukin 12B | Mõnikord (5–29%) | Esineb 1 haiguses |
| IL17RDinterleukin 17 receptor D | Mõnikord (5–29%) | Esineb 1 haiguses |
| IQSEC1IQ motif and Sec7 domain ArfGEF 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| JAK2Janus kinase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KRASKRas proto-oncogene, GTPase | Mõnikord (5–29%) | Esineb 1 haiguses |
| LAMA3laminin subunit alpha 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LAMB2laminin subunit beta 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LCATlecithin-cholesterol acyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| LRP5LDL receptor related protein 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LUZP1leucine zipper protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MAD2L2mitotic arrest deficient 2 like 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MALT1MALT1 paracaspase | Mõnikord (5–29%) | Esineb 1 haiguses |
| MLH1mutL homolog 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MLXMAX dimerization protein MLX | Mõnikord (5–29%) | Esineb 1 haiguses |
| MMP23Bmatrix metallopeptidase 23B | Mõnikord (5–29%) | Esineb 1 haiguses |
| MPDZmultiple PDZ domain crumbs cell polarity complex component | Mõnikord (5–29%) | Esineb 1 haiguses |
| MPLMPL proto-oncogene, thrombopoietin receptor | Mõnikord (5–29%) | Esineb 1 haiguses |
| MSH2mutS homolog 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MSH6mutS homolog 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MTRR5-methyltetrahydrofolate-homocysteine methyltransferase reductase | Mõnikord (5–29%) | Esineb 1 haiguses |
| MUTYHmutY DNA glycosylase | Mõnikord (5–29%) | Esineb 1 haiguses |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| NDNFneuron derived neurotrophic factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| NOTCH3notch receptor 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NPATnuclear protein, coactivator of histone transcription | Mõnikord (5–29%) | Esineb 1 haiguses |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| OPN1LWopsin 1, long wave sensitive | Mõnikord (5–29%) | Esineb 3 haiguses |
| OPN1MWopsin 1, medium wave sensitive | Mõnikord (5–29%) | Esineb 3 haiguses |
| PALB2partner and localizer of BRCA2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PDE4Dphosphodiesterase 4D | Mõnikord (5–29%) | Esineb 1 haiguses |
| PDPNpodoplanin | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Mõnikord (5–29%) | Esineb 1 haiguses |
| PITPNM3PITPNM family member 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PLCB1phospholipase C beta 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PLXND1plexin D1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PMS1PMS1 homolog 1, mismatch repair system component | Mõnikord (5–29%) | Esineb 1 haiguses |
| PMS2PMS1 homolog 2, mismatch repair system component | Mõnikord (5–29%) | Esineb 1 haiguses |
| POC1BPOC1 centriolar protein B | Mõnikord (5–29%) | Esineb 2 haiguses |
| POLD1DNA polymerase delta 1, catalytic subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| POLEDNA polymerase epsilon, catalytic subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| POLGDNA polymerase gamma, catalytic subunit | Mõnikord (5–29%) | Esineb 3 haiguses |
| POLG2DNA polymerase gamma 2, accessory subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| PPP1R12Aprotein phosphatase 1 regulatory subunit 12A | Mõnikord (5–29%) | Esineb 1 haiguses |
| PRDM16PR/SET domain 16 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PRKCZprotein kinase C zeta | Mõnikord (5–29%) | Esineb 1 haiguses |
| PRKDCprotein kinase, DNA-activated, catalytic subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| PROK2prokineticin 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PRTN3proteinase 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PUS3pseudouridine synthase 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RAB11BRAB11B, member RAS oncogene family | Mõnikord (5–29%) | Esineb 1 haiguses |
| RAB28RAB28, member RAS oncogene family | Mõnikord (5–29%) | Esineb 1 haiguses |
| RAB3ARAB3A, member RAS oncogene family | Mõnikord (5–29%) | Esineb 1 haiguses |
| RAD51RAD51 recombinase | Mõnikord (5–29%) | Esineb 1 haiguses |
| RAD51CRAD51 paralog C | Mõnikord (5–29%) | Esineb 1 haiguses |
| RAX2retina and anterior neural fold homeobox 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| REREarginine-glutamic acid dipeptide repeats | Mõnikord (5–29%) | Esineb 1 haiguses |
| REV3LREV3 like, DNA directed polymerase zeta catalytic subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| RFWD3ring finger and WD repeat domain 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RIMS1regulating synaptic membrane exocytosis 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RNU4ATACRNA, U4atac small nuclear | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPGRIP1RPGR interacting protein 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| RPS20ribosomal protein S20 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RRM1ribonucleotide reductase catalytic subunit M1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SAR1Bsecretion associated Ras related GTPase 1B | Mõnikord (5–29%) | Esineb 1 haiguses |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SEMA3Asemaphorin 3A | Mõnikord (5–29%) | Esineb 1 haiguses |
| SH2B3SH2B adaptor protein 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SH3BP2SH3 domain binding protein 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| SKISKI proto-oncogene | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC12A5solute carrier family 12 member 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC25A22solute carrier family 25 member 22 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC25A4solute carrier family 25 member 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC39A4solute carrier family 39 member 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLX4SLX4 structure-specific endonuclease subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| SOBPsine oculis binding protein homolog | Mõnikord (5–29%) | Esineb 1 haiguses |
| SOX10SRY-box transcription factor 10 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SPENspen family transcriptional repressor | Mõnikord (5–29%) | Esineb 1 haiguses |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Mõnikord (5–29%) | Esineb 2 haiguses |
| SPRY4sprouty RTK signaling antagonist 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SRYsex determining region Y | Mõnikord (5–29%) | Esineb 1 haiguses |
| TACR3tachykinin receptor 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TAOK1TAO kinase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TBC1D24TBC1 domain family member 24 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TCP1t-complex 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TET2tet methylcytosine dioxygenase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TGFBR2transforming growth factor beta receptor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| THOC2THO complex subunit 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TK2thymidine kinase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TLCD3BTLC domain containing 3B | Mõnikord (5–29%) | Esineb 1 haiguses |
| TOP3ADNA topoisomerase III alpha | Mõnikord (5–29%) | Esineb 1 haiguses |
| TP53tumor protein p53 | Mõnikord (5–29%) | Esineb 2 haiguses |
| TRAPPC11trafficking protein particle complex subunit 11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRRAPtransformation/transcription domain associated protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| TTLL5tubulin tyrosine ligase like 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TTPAalpha tocopherol transfer protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| TUBB4Atubulin beta 4A class IVa | Mõnikord (5–29%) | Esineb 1 haiguses |
| TWNKtwinkle mtDNA helicase | Mõnikord (5–29%) | Esineb 1 haiguses |
| UBAP1Lubiquitin associated protein 1 like | Mõnikord (5–29%) | Esineb 1 haiguses |
| UBAP2Lubiquitin associated protein 2 like | Mõnikord (5–29%) | Esineb 1 haiguses |
| UBE2Tubiquitin conjugating enzyme E2 T | Mõnikord (5–29%) | Esineb 1 haiguses |
| UBE4Bubiquitination factor E4B | Mõnikord (5–29%) | Esineb 1 haiguses |
| UNC119unc-119 lipid binding chaperone | Mõnikord (5–29%) | Esineb 1 haiguses |
| WDR11WD repeat domain 11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| XRCC2X-ray repair cross complementing 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| YAP1Yes1 associated transcriptional regulator | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZEB2zinc finger E-box binding homeobox 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ACBD6acyl-CoA binding domain containing 6 | Harva (1–4%) | Esineb 1 haiguses |
| BRAT1BRCA1 associated ATM activator 1 | Harva (1–4%) | Esineb 1 haiguses |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Harva (1–4%) | Esineb 1 haiguses |
| FDX2ferredoxin 2 | Harva (1–4%) | Esineb 1 haiguses |
| GRK1G protein-coupled receptor kinase 1 | Harva (1–4%) | Esineb 1 haiguses |
| PLEKHM1pleckstrin homology and RUN domain containing M1 | Harva (1–4%) | Esineb 1 haiguses |
| ABCA1ATP binding cassette subfamily A member 1 | Pole registreeritud | Esineb 1 haiguses |
| ADNPactivity dependent neuroprotector homeobox | Pole registreeritud | Esineb 1 haiguses |
| ARXaristaless related homeobox | Pole registreeritud | Esineb 1 haiguses |
| CA2carbonic anhydrase 2 | Pole registreeritud | Esineb 1 haiguses |
| CAMK2Bcalcium/calmodulin dependent protein kinase II beta | Pole registreeritud | Esineb 1 haiguses |
| CKAP2Lcytoskeleton associated protein 2L | Pole registreeritud | Esineb 1 haiguses |
| CNTNAP1contactin associated protein 1 | Pole registreeritud | Esineb 1 haiguses |
| COL17A1collagen type XVII alpha 1 chain | Pole registreeritud | Esineb 1 haiguses |
| COQ7coenzyme Q7, hydroxylase | Pole registreeritud | Esineb 1 haiguses |
| CRYAAcrystallin alpha A | Pole registreeritud | Esineb 1 haiguses |
| CRYGCcrystallin gamma C | Pole registreeritud | Esineb 1 haiguses |
| DTNBP1dystrobrevin binding protein 1 | Pole registreeritud | Esineb 1 haiguses |
| EARS2glutamyl-tRNA synthetase 2, mitochondrial | Pole registreeritud | Esineb 1 haiguses |
| ELOVL4ELOVL fatty acid elongase 4 | Pole registreeritud | Esineb 1 haiguses |
| FHfumarate hydratase | Pole registreeritud | Esineb 1 haiguses |
| GDF3growth differentiation factor 3 | Pole registreeritud | Esineb 1 haiguses |
| GDF6growth differentiation factor 6 | Pole registreeritud | Esineb 1 haiguses |
| GPR179G protein-coupled receptor 179 | Pole registreeritud | Esineb 1 haiguses |
| HLA-DQB1major histocompatibility complex, class II, DQ beta 1 | Pole registreeritud | Esineb 1 haiguses |
| HPS3HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 | Pole registreeritud | Esineb 1 haiguses |
| ISCA2iron-sulfur cluster assembly 2 | Pole registreeritud | Esineb 1 haiguses |
| LRPAP1LDL receptor related protein associated protein 1 | Pole registreeritud | Esineb 1 haiguses |
| MBD5methyl-CpG binding domain protein 5 | Pole registreeritud | Esineb 1 haiguses |
| MC1Rmelanocortin 1 receptor | Pole registreeritud | Esineb 1 haiguses |
| MCOLN1mucolipin TRP cation channel 1 | Pole registreeritud | Esineb 1 haiguses |
| MIR184microRNA 184 | Pole registreeritud | Esineb 1 haiguses |
| OCA2OCA2 melanosomal transmembrane protein | Pole registreeritud | Esineb 1 haiguses |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Pole registreeritud | Esineb 1 haiguses |
| OSGEPO-sialoglycoprotein endopeptidase | Pole registreeritud | Esineb 1 haiguses |
| PHF6PHD finger protein 6 | Pole registreeritud | Esineb 1 haiguses |
| PHOX2Apaired like homeobox 2A | Pole registreeritud | Esineb 1 haiguses |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Pole registreeritud | Esineb 1 haiguses |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Pole registreeritud | Esineb 1 haiguses |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Pole registreeritud | Esineb 1 haiguses |
| POLA1DNA polymerase alpha 1, catalytic subunit | Pole registreeritud | Esineb 1 haiguses |
| POMKprotein O-mannose kinase | Pole registreeritud | Esineb 1 haiguses |
| PORCNporcupine O-acyltransferase | Pole registreeritud | Esineb 1 haiguses |
| PPP2CAprotein phosphatase 2 catalytic subunit alpha | Pole registreeritud | Esineb 1 haiguses |
| PRDX1peroxiredoxin 1 | Pole registreeritud | Esineb 1 haiguses |
| PRNPprion protein (Kanno blood group) | Pole registreeritud | Esineb 1 haiguses |
| RBP4retinol binding protein 4 | Pole registreeritud | Esineb 1 haiguses |
| SLC45A2solute carrier family 45 member 2 | Pole registreeritud | Esineb 1 haiguses |
| SYT1synaptotagmin 1 | Pole registreeritud | Esineb 1 haiguses |
| TACSTD2tumor associated calcium signal transducer 2 | Pole registreeritud | Esineb 1 haiguses |
| TCF4transcription factor 4 | Pole registreeritud | Esineb 1 haiguses |
| TDO2tryptophan 2,3-dioxygenase | Pole registreeritud | Esineb 1 haiguses |
| TMEM126Atransmembrane protein 126A | Pole registreeritud | Esineb 1 haiguses |
| TP53RKTP53 regulating kinase | Pole registreeritud | Esineb 1 haiguses |
| TREX1three prime repair exonuclease 1 | Pole registreeritud | Esineb 1 haiguses |
| TSEN34tRNA splicing endonuclease subunit 34 | Pole registreeritud | Esineb 1 haiguses |
| TSFMTs translation elongation factor, mitochondrial | Pole registreeritud | Esineb 1 haiguses |
| TTRtransthyretin | Pole registreeritud | Esineb 1 haiguses |
| USP45ubiquitin specific peptidase 45 | Pole registreeritud | Esineb 1 haiguses |
| VPS13Bvacuolar protein sorting 13 homolog B | Pole registreeritud | Esineb 1 haiguses |
| WDR45BWD repeat domain 45B | Pole registreeritud | Esineb 1 haiguses |
| ZFYVE26zinc finger FYVE-type containing 26 | Pole registreeritud | Esineb 1 haiguses |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Kitsamad tunnused
Laiemad tunnused
Allikas
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: tunnus, selle nimetused, määratlus ja sellega seotud geenid. Lisateave leiab aadressilt hpo.jax.org.
- Andmeversioon 2026.10.16-c6eea6bf.
Kellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiAlustaalates 449 $
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast