Tunnus
Blindness
Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation.
Kokkuvõte
- Teised nimetused
- Legal blindness, Total vision loss
- Kehasüsteem
- Abnormality of the eye
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Blindness, and the rest of your genome, with one test.
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Telli oma Genome Test311 geeni on seotud tunnusega Blindness
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Blindness. 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 |
|---|---|---|
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Alati | Esineb 1 haiguses |
| ARNT2aryl hydrocarbon receptor nuclear translocator 2 | Alati | Esineb 1 haiguses |
| ASNSasparagine synthetase (glutamine-hydrolyzing) | Alati | Esineb 1 haiguses |
| CAPN5calpain 5 | Alati | Esineb 1 haiguses |
| EIF4A2eukaryotic translation initiation factor 4A2 | Alati | Esineb 1 haiguses |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Alati | Esineb 1 haiguses |
| FDXRferredoxin reductase | Alati | Esineb 2 haiguses |
| GTPBP2GTP binding protein 2 | Alati | Esineb 1 haiguses |
| IFT140intraflagellar transport 140 | Alati | Esineb 3 haiguses |
| KLC4kinesin light chain 4 | Alati | Esineb 1 haiguses |
| LRP5LDL receptor related protein 5 | Alati | Esineb 5 haiguses |
| MED16mediator complex subunit 16 | Alati | Esineb 1 haiguses |
| NDC1NDC1 transmembrane nucleoporin | Alati | Esineb 1 haiguses |
| NDUFV1NADH:ubiquinone oxidoreductase core subunit V1 | Alati | Esineb 2 haiguses |
| NHEJ1non-homologous end joining factor 1 | Alati | Esineb 1 haiguses |
| ABCA4ATP binding cassette subfamily A member 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| AGBL5AGBL carboxypeptidase 5 | Väga sageli (80–99%) | Esineb 1 haiguses |
| AHI1Abelson helper integration site 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| AHRaryl hydrocarbon receptor | Väga sageli (80–99%) | Esineb 1 haiguses |
| ALMS1ALMS1 centrosome and basal body associated protein | 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 |
| ARL6ARF like GTPase 6 | Väga sageli (80–99%) | Esineb 2 haiguses |
| BBS1Bardet-Biedl syndrome 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| BBS2Bardet-Biedl syndrome 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| BEST1bestrophin 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| CA4carbonic anhydrase 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CC2D2Acoiled-coil and C2 domain containing 2A | Väga sageli (80–99%) | Esineb 2 haiguses |
| CDH3cadherin 3 | Väga sageli (80–99%) | Esineb 2 haiguses |
| CDHR1cadherin related family member 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CERKLCERK like autophagy regulator | Väga sageli (80–99%) | Esineb 1 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 3 haiguses |
| CLRN1clarin 1 | Väga sageli (80–99%) | Esineb 1 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 |
| COQ8Bcoenzyme Q8B | Väga sageli (80–99%) | Esineb 1 haiguses |
| CRB1crumbs cell polarity complex component 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CRXcone-rod homeobox | Väga sageli (80–99%) | Esineb 2 haiguses |
Näita veel 271 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| DHDDSdehydrodolichyl diphosphate synthase subunit | Väga sageli (80–99%) | Esineb 1 haiguses |
| DHX38DEAH-box helicase 38 | 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 |
| FRAS1Fraser extracellular matrix complex subunit 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| FREM2FRAS1 related extracellular matrix 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| FSCN2fascin actin-bundling protein 2, retinal | Väga sageli (80–99%) | Esineb 1 haiguses |
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Väga sageli (80–99%) | Esineb 1 haiguses |
| GLB1galactosidase beta 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| GRIP1glutamate receptor interacting protein 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| GUCA1Bguanylate cyclase activator 1B | Väga sageli (80–99%) | Esineb 1 haiguses |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Väga sageli (80–99%) | Esineb 1 haiguses |
| HKDC1hexokinase domain containing 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| IDH3Aisocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha | Väga sageli (80–99%) | Esineb 1 haiguses |
| IDH3Bisocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | Väga sageli (80–99%) | Esineb 1 haiguses |
| IFT172intraflagellar transport 172 | Väga sageli (80–99%) | Esineb 2 haiguses |
| IFT43intraflagellar transport 43 | 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 1 haiguses |
| IMPG1interphotoreceptor matrix proteoglycan 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| IMPG2interphotoreceptor matrix proteoglycan 2 | 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 |
| LRATlecithin retinol acyltransferase | 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 |
| NDE1nudE neurodevelopment protein 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NDPnorrin cystine knot growth factor NDP | Väga sageli (80–99%) | Esineb 5 haiguses |
| NEK2NIMA related kinase 2 | 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 1 haiguses |
| PCAREphotoreceptor cilium actin regulator | Väga sageli (80–99%) | Esineb 1 haiguses |
| PDE6Aphosphodiesterase 6A | Väga sageli (80–99%) | Esineb 1 haiguses |
| PDE6Bphosphodiesterase 6B | Väga sageli (80–99%) | Esineb 1 haiguses |
| PDE6Gphosphodiesterase 6G | Väga sageli (80–99%) | Esineb 1 haiguses |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Väga sageli (80–99%) | Esineb 2 haiguses |
| PRCDphotoreceptor disc component | Väga sageli (80–99%) | Esineb 1 haiguses |
| PROM1prominin 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PRPF3pre-mRNA processing factor 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PRPF31pre-mRNA processing factor 31 | Väga sageli (80–99%) | Esineb 2 haiguses |
| PRPF4pre-mRNA splicing tri-snRNP complex factor PRPF4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PRPF6pre-mRNA processing factor 6 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PRPF8pre-mRNA processing factor 8 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PRPH2peripherin 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RBP3retinol binding protein 3 | 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 1 haiguses |
| RHOrhodopsin | Väga sageli (80–99%) | Esineb 2 haiguses |
| RLBP1retinaldehyde binding protein 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RNU4-2RNA, U4 small nuclear 2 | Väga sageli (80–99%) | Esineb 2 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 2 haiguses |
| RPGRretinitis pigmentosa GTPase regulator | Väga sageli (80–99%) | Esineb 1 haiguses |
| SAGS-antigen visual arrestin | Väga sageli (80–99%) | Esineb 1 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 2 haiguses |
| SEMA4Asemaphorin 4A | 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 1 haiguses |
| SPATA7spermatogenesis associated 7 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TMEM216transmembrane protein 216 | Väga sageli (80–99%) | Esineb 2 haiguses |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Väga sageli (80–99%) | Esineb 1 haiguses |
| TTC8tetratricopeptide repeat domain 8 | Väga sageli (80–99%) | Esineb 2 haiguses |
| TUBTUB bipartite transcription factor | Väga sageli (80–99%) | Esineb 1 haiguses |
| TULP1TUB like protein 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| USH2Ausherin | Väga sageli (80–99%) | Esineb 1 haiguses |
| ZNF408zinc finger protein 408 | Väga sageli (80–99%) | Esineb 2 haiguses |
| ZNF513zinc finger protein 513 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ACTBactin beta | Sageli (30–79%) | Esineb 1 haiguses |
| BBIP1BBSome interacting protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| BBS10Bardet-Biedl syndrome 10 | Sageli (30–79%) | Esineb 1 haiguses |
| BBS12Bardet-Biedl syndrome 12 | Sageli (30–79%) | Esineb 1 haiguses |
| BBS4Bardet-Biedl syndrome 4 | Sageli (30–79%) | Esineb 1 haiguses |
| BBS5Bardet-Biedl syndrome 5 | Sageli (30–79%) | Esineb 1 haiguses |
| BBS7Bardet-Biedl syndrome 7 | Sageli (30–79%) | Esineb 1 haiguses |
| BBS9Bardet-Biedl syndrome 9 | Sageli (30–79%) | Esineb 1 haiguses |
| CEP19centrosomal protein 19 | Sageli (30–79%) | Esineb 1 haiguses |
| CEP290centrosomal protein 290 | Sageli (30–79%) | Esineb 2 haiguses |
| DHX37DEAH-box helicase 37 | Sageli (30–79%) | Esineb 1 haiguses |
| GUCY2Dguanylate cyclase 2D, retinal | Sageli (30–79%) | Esineb 1 haiguses |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Sageli (30–79%) | Esineb 1 haiguses |
| IFT27intraflagellar transport 27 | Sageli (30–79%) | Esineb 1 haiguses |
| IFT74intraflagellar transport 74 | Sageli (30–79%) | Esineb 1 haiguses |
| LZTFL1leucine zipper transcription factor like 1 | Sageli (30–79%) | Esineb 1 haiguses |
| MKKSMKKS centrosomal shuttling protein | Sageli (30–79%) | Esineb 1 haiguses |
| MKS1MKS transition zone complex subunit 1 | Sageli (30–79%) | Esineb 1 haiguses |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Sageli (30–79%) | Esineb 3 haiguses |
| NPHP1nephrocystin 1 | Sageli (30–79%) | Esineb 1 haiguses |
| OATornithine aminotransferase | Sageli (30–79%) | Esineb 2 haiguses |
| PEX6peroxisomal biogenesis factor 6 | Sageli (30–79%) | Esineb 1 haiguses |
| RBMXRNA binding motif protein X-linked | Sageli (30–79%) | Esineb 2 haiguses |
| SCLT1sodium channel and clathrin linker 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Sageli (30–79%) | Esineb 1 haiguses |
| SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1 | Sageli (30–79%) | Esineb 1 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 |
| TRIM32tripartite motif containing 32 | Sageli (30–79%) | Esineb 1 haiguses |
| WDPCPWD repeat containing planar cell polarity effector | Sageli (30–79%) | Esineb 1 haiguses |
| ZNF423zinc finger protein 423 | Sageli (30–79%) | Esineb 1 haiguses |
| AIPAHR interacting HSP90 co-chaperone | Mõnikord (5–29%) | Esineb 1 haiguses |
| ASPAaspartoacylase | Mõnikord (5–29%) | Esineb 2 haiguses |
| ATOH7atonal bHLH transcription factor 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATP5F1AATP synthase F1 subunit alpha | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATP5F1DATP synthase F1 subunit delta | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATP5F1EATP synthase F1 subunit epsilon | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATP5MKATP synthase membrane subunit k | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATP5POATP synthase peripheral stalk subunit OSCP | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATRXATRX chromatin remodeler | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATXN7ataxin 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BTNL2butyrophilin like 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| C4Acomplement C4A (Chido/Rodgers blood group) | Mõnikord (5–29%) | Esineb 1 haiguses |
| CCR1C-C motif chemokine receptor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CDH23cadherin related 23 | Mõnikord (5–29%) | Esineb 2 haiguses |
| CEP164centrosomal protein 164 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CLCN7Cl-/H+ antiporter 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| COX7Bcytochrome c oxidase subunit 7B | Mõnikord (5–29%) | Esineb 1 haiguses |
| CREBBPCREB binding lysine acetyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| CTNNB1catenin beta 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CYP4V2cytochrome P450 family 4 subfamily V member 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| EIF2B1eukaryotic translation initiation factor 2B subunit alpha | Mõnikord (5–29%) | Esineb 1 haiguses |
| ERAP1endoplasmic reticulum aminopeptidase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FASFas cell surface death receptor | Mõnikord (5–29%) | Esineb 1 haiguses |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FZD4frizzled class receptor 4 | Mõnikord (5–29%) | Esineb 4 haiguses |
| GALCgalactosylceramidase | Mõnikord (5–29%) | Esineb 3 haiguses |
| GNAQG protein subunit alpha q | Mõnikord (5–29%) | Esineb 1 haiguses |
| HCCSholocytochrome c synthase | Mõnikord (5–29%) | Esineb 1 haiguses |
| HLA-Bmajor histocompatibility complex, class I, B | Mõnikord (5–29%) | Esineb 1 haiguses |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IFNGR1interferon gamma receptor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IL10interleukin 10 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IL12Ainterleukin 12A | Mõnikord (5–29%) | Esineb 1 haiguses |
| IL12A-AS1IL12A antisense RNA 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IL23Rinterleukin 23 receptor | Mõnikord (5–29%) | Esineb 1 haiguses |
| KIF11kinesin family member 11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KLRC4killer cell lectin like receptor C4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LAMB2laminin subunit beta 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LONP1lon peptidase 1, mitochondrial | Mõnikord (5–29%) | Esineb 1 haiguses |
| MEFVMEFV innate immunity regulator, pyrin | Mõnikord (5–29%) | Esineb 1 haiguses |
| MEN1menin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MTR5-methyltetrahydrofolate-homocysteine methyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| MTRR5-methyltetrahydrofolate-homocysteine methyltransferase reductase | Mõnikord (5–29%) | Esineb 1 haiguses |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NDUFA11NADH:ubiquinone oxidoreductase subunit A11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NDUFAF1NADH:ubiquinone oxidoreductase complex assembly factor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NDUFAF3NADH:ubiquinone oxidoreductase complex assembly factor 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NDUFAF8NADH:ubiquinone oxidoreductase complex assembly factor 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NDUFB10NADH:ubiquinone oxidoreductase subunit B10 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Mõnikord (5–29%) | Esineb 2 haiguses |
| NDUFB3NADH:ubiquinone oxidoreductase subunit B3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NDUFB9NADH:ubiquinone oxidoreductase subunit B9 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NDUFS3NADH:ubiquinone oxidoreductase core subunit S3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Mõnikord (5–29%) | Esineb 2 haiguses |
| NDUFS6NADH:ubiquinone oxidoreductase subunit S6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NDUFS7NADH:ubiquinone oxidoreductase core subunit S7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NDUFS8NADH:ubiquinone oxidoreductase core subunit S8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NDUFV2NADH:ubiquinone oxidoreductase core subunit V2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NF1neurofibromin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NF2NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | Mõnikord (5–29%) | Esineb 2 haiguses |
| NLRP3NLR family pyrin domain containing 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Mõnikord (5–29%) | Esineb 1 haiguses |
| OPA1OPA1 mitochondrial dynamin like GTPase | Mõnikord (5–29%) | Esineb 1 haiguses |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PLA2G6phospholipase A2 group VI | Mõnikord (5–29%) | Esineb 1 haiguses |
| POLGDNA polymerase gamma, catalytic subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| PSAPprosaposin | Mõnikord (5–29%) | Esineb 1 haiguses |
| STAT4signal transducer and activator of transcription 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TIMMDC1translocase of inner mitochondrial membrane domain containing 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TIMP3TIMP metallopeptidase inhibitor 3 | Mõnikord (5–29%) | Esineb 2 haiguses |
| TLR4toll like receptor 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TM2D3TM2 domain containing 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TMEM126Btransmembrane protein 126B | Mõnikord (5–29%) | Esineb 1 haiguses |
| TNFSF11TNF superfamily member 11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TSPAN12tetraspanin 12 | Mõnikord (5–29%) | Esineb 1 haiguses |
| UBAC2UBA domain containing 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ABCD1ATP binding cassette subfamily D member 1 | Harva (1–4%) | Esineb 2 haiguses |
| AKT1AKT serine/threonine kinase 1 | Harva (1–4%) | Esineb 1 haiguses |
| BAP1BRCA1 associated deubiquitinase 1 | Harva (1–4%) | Esineb 1 haiguses |
| CD109CD109 molecule | Harva (1–4%) | Esineb 1 haiguses |
| FKRPfukutin related protein | Harva (1–4%) | Esineb 2 haiguses |
| GATA1GATA binding protein 1 | Harva (1–4%) | Esineb 1 haiguses |
| GMPPBGDP-mannose pyrophosphorylase B | Harva (1–4%) | Esineb 1 haiguses |
| GP1BAglycoprotein Ib platelet subunit alpha | Harva (1–4%) | Esineb 1 haiguses |
| GP1BBglycoprotein Ib platelet subunit beta | Harva (1–4%) | Esineb 1 haiguses |
| ITGA2integrin subunit alpha 2 | Harva (1–4%) | Esineb 1 haiguses |
| ITGA2Bintegrin subunit alpha 2b | Harva (1–4%) | Esineb 1 haiguses |
| ITGB3integrin subunit beta 3 | Harva (1–4%) | Esineb 1 haiguses |
| MTTPmicrosomal triglyceride transfer protein | Harva (1–4%) | Esineb 1 haiguses |
| PANK2pantothenate kinase 2 | Harva (1–4%) | Esineb 2 haiguses |
| PDGFBplatelet derived growth factor subunit B | Harva (1–4%) | Esineb 1 haiguses |
| PGK1phosphoglycerate kinase 1 | Harva (1–4%) | Esineb 1 haiguses |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Harva (1–4%) | Esineb 1 haiguses |
| POGZpogo transposable element derived with ZNF domain | Harva (1–4%) | Esineb 1 haiguses |
| POMKprotein O-mannose kinase | Harva (1–4%) | Esineb 1 haiguses |
| POMT1protein O-mannosyltransferase 1 | Harva (1–4%) | Esineb 2 haiguses |
| POMT2protein O-mannosyltransferase 2 | Harva (1–4%) | Esineb 2 haiguses |
| PQBP1polyglutamine binding protein 1 | Harva (1–4%) | Esineb 1 haiguses |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Harva (1–4%) | Esineb 1 haiguses |
| SDHAF1succinate dehydrogenase complex assembly factor 1 | Harva (1–4%) | Esineb 1 haiguses |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Harva (1–4%) | Esineb 1 haiguses |
| SDHDsuccinate dehydrogenase complex subunit D | Harva (1–4%) | Esineb 1 haiguses |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Harva (1–4%) | Esineb 1 haiguses |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Harva (1–4%) | Esineb 1 haiguses |
| SMOsmoothened, frizzled class receptor | Harva (1–4%) | Esineb 1 haiguses |
| SUFUSUFU negative regulator of hedgehog signaling | Harva (1–4%) | Esineb 1 haiguses |
| TERTtelomerase reverse transcriptase | Harva (1–4%) | Esineb 1 haiguses |
| TRAF7TNF receptor associated factor 7 | Harva (1–4%) | Esineb 1 haiguses |
| UFM1ubiquitin fold modifier 1 | Harva (1–4%) | Esineb 1 haiguses |
| URODuroporphyrinogen decarboxylase | Harva (1–4%) | Esineb 1 haiguses |
| UROSuroporphyrinogen III synthase | Harva (1–4%) | Esineb 1 haiguses |
| ADAMTS10ADAM metallopeptidase with thrombospondin type 1 motif 10 | Pole registreeritud | Esineb 1 haiguses |
| AIPL1AIP like 1 HSP90 co-chaperone | Pole registreeritud | Esineb 1 haiguses |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Pole registreeritud | Esineb 1 haiguses |
| BCORBCL6 corepressor | Pole registreeritud | Esineb 1 haiguses |
| BMP4bone morphogenetic protein 4 | Pole registreeritud | Esineb 1 haiguses |
| CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin | Pole registreeritud | Esineb 1 haiguses |
| COL2A1collagen type II alpha 1 chain | Pole registreeritud | Esineb 1 haiguses |
| CTC1CST telomere replication complex component 1 | Pole registreeritud | Esineb 1 haiguses |
| FBN1fibrillin 1 | Pole registreeritud | Esineb 1 haiguses |
| FKTNfukutin | Pole registreeritud | Esineb 1 haiguses |
| FLVCR1FLVCR choline and heme transporter 1 | Pole registreeritud | Esineb 1 haiguses |
| GJB2gap junction protein beta 2 | Pole registreeritud | Esineb 1 haiguses |
| GM2Aganglioside GM2 activator | Pole registreeritud | Esineb 1 haiguses |
| GNASGNAS complex locus | Pole registreeritud | Esineb 1 haiguses |
| HEXAhexosaminidase subunit alpha | Pole registreeritud | Esineb 1 haiguses |
| HEXBhexosaminidase subunit beta | Pole registreeritud | Esineb 1 haiguses |
| HPS1HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 | Pole registreeritud | Esineb 1 haiguses |
| KIF14kinesin family member 14 | Pole registreeritud | Esineb 1 haiguses |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Pole registreeritud | Esineb 1 haiguses |
| MFSD8major facilitator superfamily domain containing 8 | Pole registreeritud | Esineb 1 haiguses |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Pole registreeritud | Esineb 1 haiguses |
| PIK3R2phosphoinositide-3-kinase regulatory subunit 2 | Pole registreeritud | Esineb 1 haiguses |
| PITX3paired like homeodomain 3 | Pole registreeritud | Esineb 1 haiguses |
| PLGplasminogen | Pole registreeritud | Esineb 1 haiguses |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Pole registreeritud | Esineb 1 haiguses |
| PPT1palmitoyl-protein thioesterase 1 | Pole registreeritud | Esineb 1 haiguses |
| PROS1protein S | Pole registreeritud | Esineb 1 haiguses |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Pole registreeritud | Esineb 1 haiguses |
| SREBF1sterol regulatory element binding transcription factor 1 | Pole registreeritud | Esineb 1 haiguses |
| TBC1D24TBC1 domain family member 24 | Pole registreeritud | Esineb 1 haiguses |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Pole registreeritud | Esineb 1 haiguses |
| TMEM67transmembrane protein 67 | 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.
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast