Piirre
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.
Yhteenveto
- Tunnetaan myös nimellä
- Legal blindness, Total vision loss
- Elimistön järjestelmä
- Abnormality of the eye
ViitegenomiGRCh38hg38
Geenien ja varianttien sivujen sijainnit noudattavat tätä valintaa tässä selaimessa.
Read the genes linked to Blindness, and the rest of your genome, with one test.
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Tilaa Genome Test311 geeniä, jotka liittyvät piirteeseen Blindness
Näiden geenien muutokset aiheuttavat harvinaisia sairauksia, joissa Blindness esiintyy. Useimmilla, joilla on tämä piirre, ei ole mitään näistä sairauksista, eikä tämän listan geeni kerro mitään kenenkään omasta genomista.
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Aina | 1 sairaudessa |
| ARNT2aryl hydrocarbon receptor nuclear translocator 2 | Aina | 1 sairaudessa |
| ASNSasparagine synthetase (glutamine-hydrolyzing) | Aina | 1 sairaudessa |
| CAPN5calpain 5 | Aina | 1 sairaudessa |
| EIF4A2eukaryotic translation initiation factor 4A2 | Aina | 1 sairaudessa |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Aina | 1 sairaudessa |
| FDXRferredoxin reductase | Aina | 2 sairaudessa |
| GTPBP2GTP binding protein 2 | Aina | 1 sairaudessa |
| IFT140intraflagellar transport 140 | Aina | 3 sairaudessa |
| KLC4kinesin light chain 4 | Aina | 1 sairaudessa |
| LRP5LDL receptor related protein 5 | Aina | 5 sairaudessa |
| MED16mediator complex subunit 16 | Aina | 1 sairaudessa |
| NDC1NDC1 transmembrane nucleoporin | Aina | 1 sairaudessa |
| NDUFV1NADH:ubiquinone oxidoreductase core subunit V1 | Aina | 2 sairaudessa |
| NHEJ1non-homologous end joining factor 1 | Aina | 1 sairaudessa |
| ABCA4ATP binding cassette subfamily A member 4 | Hyvin usein (80–99%) | 1 sairaudessa |
| AGBL5AGBL carboxypeptidase 5 | Hyvin usein (80–99%) | 1 sairaudessa |
| AHI1Abelson helper integration site 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| AHRaryl hydrocarbon receptor | Hyvin usein (80–99%) | 1 sairaudessa |
| ALMS1ALMS1 centrosome and basal body associated protein | Hyvin usein (80–99%) | 2 sairaudessa |
| ARHGEF18Rho/Rac guanine nucleotide exchange factor 18 | Hyvin usein (80–99%) | 1 sairaudessa |
| ARL2BPARF like GTPase 2 binding protein | Hyvin usein (80–99%) | 1 sairaudessa |
| ARL3ARF like GTPase 3 | Hyvin usein (80–99%) | 1 sairaudessa |
| ARL6ARF like GTPase 6 | Hyvin usein (80–99%) | 2 sairaudessa |
| BBS1Bardet-Biedl syndrome 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| BBS2Bardet-Biedl syndrome 2 | Hyvin usein (80–99%) | 2 sairaudessa |
| BEST1bestrophin 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| CA4carbonic anhydrase 4 | Hyvin usein (80–99%) | 1 sairaudessa |
| CC2D2Acoiled-coil and C2 domain containing 2A | Hyvin usein (80–99%) | 2 sairaudessa |
| CDH3cadherin 3 | Hyvin usein (80–99%) | 2 sairaudessa |
| CDHR1cadherin related family member 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| CERKLCERK like autophagy regulator | Hyvin usein (80–99%) | 1 sairaudessa |
| CFAP20cilia and flagella associated protein 20 | Hyvin usein (80–99%) | 1 sairaudessa |
| CFAP418cilia and flagella associated protein 418 | Hyvin usein (80–99%) | 3 sairaudessa |
| CLRN1clarin 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| CNGA1cyclic nucleotide gated channel subunit alpha 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| CNGB1cyclic nucleotide gated channel subunit beta 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| COQ8Bcoenzyme Q8B | Hyvin usein (80–99%) | 1 sairaudessa |
| CRB1crumbs cell polarity complex component 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| CRXcone-rod homeobox | Hyvin usein (80–99%) | 2 sairaudessa |
Näytä 271 geeniä lisää
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| DHDDSdehydrodolichyl diphosphate synthase subunit | Hyvin usein (80–99%) | 1 sairaudessa |
| DHX38DEAH-box helicase 38 | Hyvin usein (80–99%) | 1 sairaudessa |
| EYSEGF-like photoreceptor maintenance factor | Hyvin usein (80–99%) | 1 sairaudessa |
| FAM161AFAM161 centrosomal protein A | Hyvin usein (80–99%) | 1 sairaudessa |
| FRAS1Fraser extracellular matrix complex subunit 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| FREM2FRAS1 related extracellular matrix 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| FSCN2fascin actin-bundling protein 2, retinal | Hyvin usein (80–99%) | 1 sairaudessa |
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Hyvin usein (80–99%) | 1 sairaudessa |
| GLB1galactosidase beta 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| GRIP1glutamate receptor interacting protein 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| GUCA1Bguanylate cyclase activator 1B | Hyvin usein (80–99%) | 1 sairaudessa |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Hyvin usein (80–99%) | 1 sairaudessa |
| HKDC1hexokinase domain containing 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| IDH3Aisocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha | Hyvin usein (80–99%) | 1 sairaudessa |
| IDH3Bisocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | Hyvin usein (80–99%) | 1 sairaudessa |
| IFT172intraflagellar transport 172 | Hyvin usein (80–99%) | 2 sairaudessa |
| IFT43intraflagellar transport 43 | Hyvin usein (80–99%) | 1 sairaudessa |
| IFT88intraflagellar transport 88 | Hyvin usein (80–99%) | 1 sairaudessa |
| IMPDH1inosine monophosphate dehydrogenase 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| IMPG1interphotoreceptor matrix proteoglycan 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| IMPG2interphotoreceptor matrix proteoglycan 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| KIAA1549KIAA1549 | Hyvin usein (80–99%) | 1 sairaudessa |
| KIZkizuna centrosomal protein | Hyvin usein (80–99%) | 1 sairaudessa |
| KLHL7kelch like family member 7 | Hyvin usein (80–99%) | 1 sairaudessa |
| LRATlecithin retinol acyltransferase | Hyvin usein (80–99%) | 1 sairaudessa |
| MAKmale germ cell associated kinase | Hyvin usein (80–99%) | 1 sairaudessa |
| MERTKMER proto-oncogene, tyrosine kinase | Hyvin usein (80–99%) | 1 sairaudessa |
| NDE1nudE neurodevelopment protein 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| NDPnorrin cystine knot growth factor NDP | Hyvin usein (80–99%) | 5 sairaudessa |
| NEK2NIMA related kinase 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| NR2E3nuclear receptor subfamily 2 group E member 3 | Hyvin usein (80–99%) | 1 sairaudessa |
| NRLneural retina leucine zipper | Hyvin usein (80–99%) | 2 sairaudessa |
| OFD1OFD1 centriole and centriolar satellite protein | Hyvin usein (80–99%) | 1 sairaudessa |
| OTX2orthodenticle homeobox 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| PCAREphotoreceptor cilium actin regulator | Hyvin usein (80–99%) | 1 sairaudessa |
| PDE6Aphosphodiesterase 6A | Hyvin usein (80–99%) | 1 sairaudessa |
| PDE6Bphosphodiesterase 6B | Hyvin usein (80–99%) | 1 sairaudessa |
| PDE6Gphosphodiesterase 6G | Hyvin usein (80–99%) | 1 sairaudessa |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Hyvin usein (80–99%) | 2 sairaudessa |
| PRCDphotoreceptor disc component | Hyvin usein (80–99%) | 1 sairaudessa |
| PROM1prominin 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| PRPF3pre-mRNA processing factor 3 | Hyvin usein (80–99%) | 1 sairaudessa |
| PRPF31pre-mRNA processing factor 31 | Hyvin usein (80–99%) | 2 sairaudessa |
| PRPF4pre-mRNA splicing tri-snRNP complex factor PRPF4 | Hyvin usein (80–99%) | 1 sairaudessa |
| PRPF6pre-mRNA processing factor 6 | Hyvin usein (80–99%) | 1 sairaudessa |
| PRPF8pre-mRNA processing factor 8 | Hyvin usein (80–99%) | 1 sairaudessa |
| PRPH2peripherin 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| RBP3retinol binding protein 3 | Hyvin usein (80–99%) | 1 sairaudessa |
| RDH12retinol dehydrogenase 12 | Hyvin usein (80–99%) | 1 sairaudessa |
| REEP6receptor accessory protein 6 | Hyvin usein (80–99%) | 1 sairaudessa |
| RGRretinal G protein coupled receptor | Hyvin usein (80–99%) | 1 sairaudessa |
| RHOrhodopsin | Hyvin usein (80–99%) | 2 sairaudessa |
| RLBP1retinaldehyde binding protein 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| RNU4-2RNA, U4 small nuclear 2 | Hyvin usein (80–99%) | 2 sairaudessa |
| RNU6-1RNA, U6 small nuclear 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| RNU6-2RNA, U6 small nuclear 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| RNU6-8RNA, U6 small nuclear 8 | Hyvin usein (80–99%) | 1 sairaudessa |
| RNU6-9RNA, U6 small nuclear 9 | Hyvin usein (80–99%) | 1 sairaudessa |
| ROM1retinal outer segment membrane protein 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| RP1RP1 axonemal microtubule associated | Hyvin usein (80–99%) | 1 sairaudessa |
| RP1L1RP1 like 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| RP2RP2 activator of ARL3 GTPase | Hyvin usein (80–99%) | 1 sairaudessa |
| RP9RP9 pre-mRNA splicing factor | Hyvin usein (80–99%) | 1 sairaudessa |
| RPE65retinoid isomerohydrolase RPE65 | Hyvin usein (80–99%) | 2 sairaudessa |
| RPGRretinitis pigmentosa GTPase regulator | Hyvin usein (80–99%) | 1 sairaudessa |
| SAGS-antigen visual arrestin | Hyvin usein (80–99%) | 1 sairaudessa |
| SAXO6stabilizer of axonemal microtubules 6 | Hyvin usein (80–99%) | 1 sairaudessa |
| SCAPERS-phase cyclin A associated protein in the ER | Hyvin usein (80–99%) | 2 sairaudessa |
| SEMA4Asemaphorin 4A | Hyvin usein (80–99%) | 2 sairaudessa |
| SLC7A14solute carrier family 7 member 14 | Hyvin usein (80–99%) | 1 sairaudessa |
| SNRNP200small nuclear ribonucleoprotein U5 subunit 200 | Hyvin usein (80–99%) | 1 sairaudessa |
| SPATA7spermatogenesis associated 7 | Hyvin usein (80–99%) | 1 sairaudessa |
| TMEM216transmembrane protein 216 | Hyvin usein (80–99%) | 2 sairaudessa |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Hyvin usein (80–99%) | 1 sairaudessa |
| TTC8tetratricopeptide repeat domain 8 | Hyvin usein (80–99%) | 2 sairaudessa |
| TUBTUB bipartite transcription factor | Hyvin usein (80–99%) | 1 sairaudessa |
| TULP1TUB like protein 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| USH2Ausherin | Hyvin usein (80–99%) | 1 sairaudessa |
| ZNF408zinc finger protein 408 | Hyvin usein (80–99%) | 2 sairaudessa |
| ZNF513zinc finger protein 513 | Hyvin usein (80–99%) | 1 sairaudessa |
| ACTBactin beta | Usein (30–79%) | 1 sairaudessa |
| BBIP1BBSome interacting protein 1 | Usein (30–79%) | 1 sairaudessa |
| BBS10Bardet-Biedl syndrome 10 | Usein (30–79%) | 1 sairaudessa |
| BBS12Bardet-Biedl syndrome 12 | Usein (30–79%) | 1 sairaudessa |
| BBS4Bardet-Biedl syndrome 4 | Usein (30–79%) | 1 sairaudessa |
| BBS5Bardet-Biedl syndrome 5 | Usein (30–79%) | 1 sairaudessa |
| BBS7Bardet-Biedl syndrome 7 | Usein (30–79%) | 1 sairaudessa |
| BBS9Bardet-Biedl syndrome 9 | Usein (30–79%) | 1 sairaudessa |
| CEP19centrosomal protein 19 | Usein (30–79%) | 1 sairaudessa |
| CEP290centrosomal protein 290 | Usein (30–79%) | 2 sairaudessa |
| DHX37DEAH-box helicase 37 | Usein (30–79%) | 1 sairaudessa |
| GUCY2Dguanylate cyclase 2D, retinal | Usein (30–79%) | 1 sairaudessa |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Usein (30–79%) | 1 sairaudessa |
| IFT27intraflagellar transport 27 | Usein (30–79%) | 1 sairaudessa |
| IFT74intraflagellar transport 74 | Usein (30–79%) | 1 sairaudessa |
| LZTFL1leucine zipper transcription factor like 1 | Usein (30–79%) | 1 sairaudessa |
| MKKSMKKS centrosomal shuttling protein | Usein (30–79%) | 1 sairaudessa |
| MKS1MKS transition zone complex subunit 1 | Usein (30–79%) | 1 sairaudessa |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Usein (30–79%) | 3 sairaudessa |
| NPHP1nephrocystin 1 | Usein (30–79%) | 1 sairaudessa |
| OATornithine aminotransferase | Usein (30–79%) | 2 sairaudessa |
| PEX6peroxisomal biogenesis factor 6 | Usein (30–79%) | 1 sairaudessa |
| RBMXRNA binding motif protein X-linked | Usein (30–79%) | 2 sairaudessa |
| SCLT1sodium channel and clathrin linker 1 | Usein (30–79%) | 1 sairaudessa |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Usein (30–79%) | 1 sairaudessa |
| SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1 | Usein (30–79%) | 1 sairaudessa |
| TMEM138transmembrane protein 138 | Usein (30–79%) | 1 sairaudessa |
| TMEM231transmembrane protein 231 | Usein (30–79%) | 1 sairaudessa |
| TMEM237transmembrane protein 237 | Usein (30–79%) | 1 sairaudessa |
| TRIM32tripartite motif containing 32 | Usein (30–79%) | 1 sairaudessa |
| WDPCPWD repeat containing planar cell polarity effector | Usein (30–79%) | 1 sairaudessa |
| ZNF423zinc finger protein 423 | Usein (30–79%) | 1 sairaudessa |
| AIPAHR interacting HSP90 co-chaperone | Joskus (5–29%) | 1 sairaudessa |
| ASPAaspartoacylase | Joskus (5–29%) | 2 sairaudessa |
| ATOH7atonal bHLH transcription factor 7 | Joskus (5–29%) | 1 sairaudessa |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Joskus (5–29%) | 1 sairaudessa |
| ATP5F1AATP synthase F1 subunit alpha | Joskus (5–29%) | 1 sairaudessa |
| ATP5F1DATP synthase F1 subunit delta | Joskus (5–29%) | 1 sairaudessa |
| ATP5F1EATP synthase F1 subunit epsilon | Joskus (5–29%) | 1 sairaudessa |
| ATP5MKATP synthase membrane subunit k | Joskus (5–29%) | 1 sairaudessa |
| ATP5POATP synthase peripheral stalk subunit OSCP | Joskus (5–29%) | 1 sairaudessa |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Joskus (5–29%) | 1 sairaudessa |
| ATRXATRX chromatin remodeler | Joskus (5–29%) | 1 sairaudessa |
| ATXN7ataxin 7 | Joskus (5–29%) | 1 sairaudessa |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Joskus (5–29%) | 1 sairaudessa |
| BTNL2butyrophilin like 2 | Joskus (5–29%) | 1 sairaudessa |
| C4Acomplement C4A (Chido/Rodgers blood group) | Joskus (5–29%) | 1 sairaudessa |
| CCR1C-C motif chemokine receptor 1 | Joskus (5–29%) | 1 sairaudessa |
| CDH23cadherin related 23 | Joskus (5–29%) | 2 sairaudessa |
| CEP164centrosomal protein 164 | Joskus (5–29%) | 1 sairaudessa |
| CLCN7Cl-/H+ antiporter 7 | Joskus (5–29%) | 1 sairaudessa |
| COX7Bcytochrome c oxidase subunit 7B | Joskus (5–29%) | 1 sairaudessa |
| CREBBPCREB binding lysine acetyltransferase | Joskus (5–29%) | 1 sairaudessa |
| CTNNB1catenin beta 1 | Joskus (5–29%) | 1 sairaudessa |
| CYP4V2cytochrome P450 family 4 subfamily V member 2 | Joskus (5–29%) | 1 sairaudessa |
| EIF2B1eukaryotic translation initiation factor 2B subunit alpha | Joskus (5–29%) | 1 sairaudessa |
| ERAP1endoplasmic reticulum aminopeptidase 1 | Joskus (5–29%) | 1 sairaudessa |
| FASFas cell surface death receptor | Joskus (5–29%) | 1 sairaudessa |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Joskus (5–29%) | 1 sairaudessa |
| FZD4frizzled class receptor 4 | Joskus (5–29%) | 4 sairaudessa |
| GALCgalactosylceramidase | Joskus (5–29%) | 3 sairaudessa |
| GNAQG protein subunit alpha q | Joskus (5–29%) | 1 sairaudessa |
| HCCSholocytochrome c synthase | Joskus (5–29%) | 1 sairaudessa |
| HLA-Bmajor histocompatibility complex, class I, B | Joskus (5–29%) | 1 sairaudessa |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Joskus (5–29%) | 1 sairaudessa |
| IFNGR1interferon gamma receptor 1 | Joskus (5–29%) | 1 sairaudessa |
| IL10interleukin 10 | Joskus (5–29%) | 1 sairaudessa |
| IL12Ainterleukin 12A | Joskus (5–29%) | 1 sairaudessa |
| IL12A-AS1IL12A antisense RNA 1 | Joskus (5–29%) | 1 sairaudessa |
| IL23Rinterleukin 23 receptor | Joskus (5–29%) | 1 sairaudessa |
| KIF11kinesin family member 11 | Joskus (5–29%) | 1 sairaudessa |
| KLRC4killer cell lectin like receptor C4 | Joskus (5–29%) | 1 sairaudessa |
| LAMB2laminin subunit beta 2 | Joskus (5–29%) | 1 sairaudessa |
| LONP1lon peptidase 1, mitochondrial | Joskus (5–29%) | 1 sairaudessa |
| MEFVMEFV innate immunity regulator, pyrin | Joskus (5–29%) | 1 sairaudessa |
| MEN1menin 1 | Joskus (5–29%) | 1 sairaudessa |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Joskus (5–29%) | 1 sairaudessa |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Joskus (5–29%) | 1 sairaudessa |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Joskus (5–29%) | 1 sairaudessa |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Joskus (5–29%) | 1 sairaudessa |
| MTR5-methyltetrahydrofolate-homocysteine methyltransferase | Joskus (5–29%) | 1 sairaudessa |
| MTRR5-methyltetrahydrofolate-homocysteine methyltransferase reductase | Joskus (5–29%) | 1 sairaudessa |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Joskus (5–29%) | 1 sairaudessa |
| NDUFA11NADH:ubiquinone oxidoreductase subunit A11 | Joskus (5–29%) | 1 sairaudessa |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Joskus (5–29%) | 1 sairaudessa |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Joskus (5–29%) | 1 sairaudessa |
| NDUFAF1NADH:ubiquinone oxidoreductase complex assembly factor 1 | Joskus (5–29%) | 1 sairaudessa |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Joskus (5–29%) | 1 sairaudessa |
| NDUFAF3NADH:ubiquinone oxidoreductase complex assembly factor 3 | Joskus (5–29%) | 1 sairaudessa |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Joskus (5–29%) | 1 sairaudessa |
| NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5 | Joskus (5–29%) | 1 sairaudessa |
| NDUFAF8NADH:ubiquinone oxidoreductase complex assembly factor 8 | Joskus (5–29%) | 1 sairaudessa |
| NDUFB10NADH:ubiquinone oxidoreductase subunit B10 | Joskus (5–29%) | 1 sairaudessa |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Joskus (5–29%) | 2 sairaudessa |
| NDUFB3NADH:ubiquinone oxidoreductase subunit B3 | Joskus (5–29%) | 1 sairaudessa |
| NDUFB9NADH:ubiquinone oxidoreductase subunit B9 | Joskus (5–29%) | 1 sairaudessa |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Joskus (5–29%) | 1 sairaudessa |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Joskus (5–29%) | 1 sairaudessa |
| NDUFS3NADH:ubiquinone oxidoreductase core subunit S3 | Joskus (5–29%) | 1 sairaudessa |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Joskus (5–29%) | 2 sairaudessa |
| NDUFS6NADH:ubiquinone oxidoreductase subunit S6 | Joskus (5–29%) | 1 sairaudessa |
| NDUFS7NADH:ubiquinone oxidoreductase core subunit S7 | Joskus (5–29%) | 1 sairaudessa |
| NDUFS8NADH:ubiquinone oxidoreductase core subunit S8 | Joskus (5–29%) | 1 sairaudessa |
| NDUFV2NADH:ubiquinone oxidoreductase core subunit V2 | Joskus (5–29%) | 1 sairaudessa |
| NF1neurofibromin 1 | Joskus (5–29%) | 1 sairaudessa |
| NF2NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | Joskus (5–29%) | 2 sairaudessa |
| NLRP3NLR family pyrin domain containing 3 | Joskus (5–29%) | 1 sairaudessa |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Joskus (5–29%) | 1 sairaudessa |
| OPA1OPA1 mitochondrial dynamin like GTPase | Joskus (5–29%) | 1 sairaudessa |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Joskus (5–29%) | 1 sairaudessa |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Joskus (5–29%) | 1 sairaudessa |
| PLA2G6phospholipase A2 group VI | Joskus (5–29%) | 1 sairaudessa |
| POLGDNA polymerase gamma, catalytic subunit | Joskus (5–29%) | 1 sairaudessa |
| PSAPprosaposin | Joskus (5–29%) | 1 sairaudessa |
| STAT4signal transducer and activator of transcription 4 | Joskus (5–29%) | 1 sairaudessa |
| TIMMDC1translocase of inner mitochondrial membrane domain containing 1 | Joskus (5–29%) | 1 sairaudessa |
| TIMP3TIMP metallopeptidase inhibitor 3 | Joskus (5–29%) | 2 sairaudessa |
| TLR4toll like receptor 4 | Joskus (5–29%) | 1 sairaudessa |
| TM2D3TM2 domain containing 3 | Joskus (5–29%) | 1 sairaudessa |
| TMEM126Btransmembrane protein 126B | Joskus (5–29%) | 1 sairaudessa |
| TNFSF11TNF superfamily member 11 | Joskus (5–29%) | 1 sairaudessa |
| TSPAN12tetraspanin 12 | Joskus (5–29%) | 1 sairaudessa |
| UBAC2UBA domain containing 2 | Joskus (5–29%) | 1 sairaudessa |
| ABCD1ATP binding cassette subfamily D member 1 | Harvinainen (1–4 %) | 2 sairaudessa |
| AKT1AKT serine/threonine kinase 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| BAP1BRCA1 associated deubiquitinase 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| CD109CD109 molecule | Harvinainen (1–4 %) | 1 sairaudessa |
| FKRPfukutin related protein | Harvinainen (1–4 %) | 2 sairaudessa |
| GATA1GATA binding protein 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| GMPPBGDP-mannose pyrophosphorylase B | Harvinainen (1–4 %) | 1 sairaudessa |
| GP1BAglycoprotein Ib platelet subunit alpha | Harvinainen (1–4 %) | 1 sairaudessa |
| GP1BBglycoprotein Ib platelet subunit beta | Harvinainen (1–4 %) | 1 sairaudessa |
| ITGA2integrin subunit alpha 2 | Harvinainen (1–4 %) | 1 sairaudessa |
| ITGA2Bintegrin subunit alpha 2b | Harvinainen (1–4 %) | 1 sairaudessa |
| ITGB3integrin subunit beta 3 | Harvinainen (1–4 %) | 1 sairaudessa |
| MTTPmicrosomal triglyceride transfer protein | Harvinainen (1–4 %) | 1 sairaudessa |
| PANK2pantothenate kinase 2 | Harvinainen (1–4 %) | 2 sairaudessa |
| PDGFBplatelet derived growth factor subunit B | Harvinainen (1–4 %) | 1 sairaudessa |
| PGK1phosphoglycerate kinase 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Harvinainen (1–4 %) | 1 sairaudessa |
| POGZpogo transposable element derived with ZNF domain | Harvinainen (1–4 %) | 1 sairaudessa |
| POMKprotein O-mannose kinase | Harvinainen (1–4 %) | 1 sairaudessa |
| POMT1protein O-mannosyltransferase 1 | Harvinainen (1–4 %) | 2 sairaudessa |
| POMT2protein O-mannosyltransferase 2 | Harvinainen (1–4 %) | 2 sairaudessa |
| PQBP1polyglutamine binding protein 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Harvinainen (1–4 %) | 1 sairaudessa |
| SDHAF1succinate dehydrogenase complex assembly factor 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Harvinainen (1–4 %) | 1 sairaudessa |
| SDHDsuccinate dehydrogenase complex subunit D | Harvinainen (1–4 %) | 1 sairaudessa |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Harvinainen (1–4 %) | 1 sairaudessa |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Harvinainen (1–4 %) | 1 sairaudessa |
| SMOsmoothened, frizzled class receptor | Harvinainen (1–4 %) | 1 sairaudessa |
| SUFUSUFU negative regulator of hedgehog signaling | Harvinainen (1–4 %) | 1 sairaudessa |
| TERTtelomerase reverse transcriptase | Harvinainen (1–4 %) | 1 sairaudessa |
| TRAF7TNF receptor associated factor 7 | Harvinainen (1–4 %) | 1 sairaudessa |
| UFM1ubiquitin fold modifier 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| URODuroporphyrinogen decarboxylase | Harvinainen (1–4 %) | 1 sairaudessa |
| UROSuroporphyrinogen III synthase | Harvinainen (1–4 %) | 1 sairaudessa |
| ADAMTS10ADAM metallopeptidase with thrombospondin type 1 motif 10 | Ei kirjattu | 1 sairaudessa |
| AIPL1AIP like 1 HSP90 co-chaperone | Ei kirjattu | 1 sairaudessa |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Ei kirjattu | 1 sairaudessa |
| BCORBCL6 corepressor | Ei kirjattu | 1 sairaudessa |
| BMP4bone morphogenetic protein 4 | Ei kirjattu | 1 sairaudessa |
| CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin | Ei kirjattu | 1 sairaudessa |
| COL2A1collagen type II alpha 1 chain | Ei kirjattu | 1 sairaudessa |
| CTC1CST telomere replication complex component 1 | Ei kirjattu | 1 sairaudessa |
| FBN1fibrillin 1 | Ei kirjattu | 1 sairaudessa |
| FKTNfukutin | Ei kirjattu | 1 sairaudessa |
| FLVCR1FLVCR choline and heme transporter 1 | Ei kirjattu | 1 sairaudessa |
| GJB2gap junction protein beta 2 | Ei kirjattu | 1 sairaudessa |
| GM2Aganglioside GM2 activator | Ei kirjattu | 1 sairaudessa |
| GNASGNAS complex locus | Ei kirjattu | 1 sairaudessa |
| HEXAhexosaminidase subunit alpha | Ei kirjattu | 1 sairaudessa |
| HEXBhexosaminidase subunit beta | Ei kirjattu | 1 sairaudessa |
| HPS1HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 | Ei kirjattu | 1 sairaudessa |
| KIF14kinesin family member 14 | Ei kirjattu | 1 sairaudessa |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Ei kirjattu | 1 sairaudessa |
| MFSD8major facilitator superfamily domain containing 8 | Ei kirjattu | 1 sairaudessa |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Ei kirjattu | 1 sairaudessa |
| PIK3R2phosphoinositide-3-kinase regulatory subunit 2 | Ei kirjattu | 1 sairaudessa |
| PITX3paired like homeodomain 3 | Ei kirjattu | 1 sairaudessa |
| PLGplasminogen | Ei kirjattu | 1 sairaudessa |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Ei kirjattu | 1 sairaudessa |
| PPT1palmitoyl-protein thioesterase 1 | Ei kirjattu | 1 sairaudessa |
| PROS1protein S | Ei kirjattu | 1 sairaudessa |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Ei kirjattu | 1 sairaudessa |
| SREBF1sterol regulatory element binding transcription factor 1 | Ei kirjattu | 1 sairaudessa |
| TBC1D24TBC1 domain family member 24 | Ei kirjattu | 1 sairaudessa |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Ei kirjattu | 1 sairaudessa |
| TMEM67transmembrane protein 67 | Ei kirjattu | 1 sairaudessa |
Kuinka usein ilmiö esiintyy ihmisillä, joilla on jokin geenin sairauksista, niin kuin Human Phenotype Ontology sen kirjaa. Nämä sivut kuvaavat piirteitä ja niiden taustalla olevaa tutkimusta, eivätkä ne ole diagnoosi. Oireista kannattaa kysyä lääkäriltä tai geneettiseltä neuvojalta.
Tarkemmat piirteet
Laajemmat piirteet
Mistä tämä tieto tulee
- Human Phenotype Ontology, julkaisu 2026-09-01: piirre, sen nimet, määritelmä ja siihen liitetyt geenit. Lue lisää osoitteesta hpo.jax.org.
- Tietojulkaisu 2026.10.16-c6eea6bf.
Yksi testi. Vastauksia koko elämäksi.
Alkaen 449 $Ilmainen toimitus · Tulokset 6–8 viikossa