Požymis
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.
Santrauka
- Taip pat vadinama
- Legal blindness, Total vision loss
- Kūno sistema
- Abnormality of the eye
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
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Įsigyti savo Genome Test311 genų susiję su Blindness
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Blindness. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Visada | 1 ligoje |
| ARNT2aryl hydrocarbon receptor nuclear translocator 2 | Visada | 1 ligoje |
| ASNSasparagine synthetase (glutamine-hydrolyzing) | Visada | 1 ligoje |
| CAPN5calpain 5 | Visada | 1 ligoje |
| EIF4A2eukaryotic translation initiation factor 4A2 | Visada | 1 ligoje |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Visada | 1 ligoje |
| FDXRferredoxin reductase | Visada | 2 ligose |
| GTPBP2GTP binding protein 2 | Visada | 1 ligoje |
| IFT140intraflagellar transport 140 | Visada | 3 ligose |
| KLC4kinesin light chain 4 | Visada | 1 ligoje |
| LRP5LDL receptor related protein 5 | Visada | 5 ligose |
| MED16mediator complex subunit 16 | Visada | 1 ligoje |
| NDC1NDC1 transmembrane nucleoporin | Visada | 1 ligoje |
| NDUFV1NADH:ubiquinone oxidoreductase core subunit V1 | Visada | 2 ligose |
| NHEJ1non-homologous end joining factor 1 | Visada | 1 ligoje |
| ABCA4ATP binding cassette subfamily A member 4 | Labai dažnai (80–99%) | 1 ligoje |
| AGBL5AGBL carboxypeptidase 5 | Labai dažnai (80–99%) | 1 ligoje |
| AHI1Abelson helper integration site 1 | Labai dažnai (80–99%) | 1 ligoje |
| AHRaryl hydrocarbon receptor | Labai dažnai (80–99%) | 1 ligoje |
| ALMS1ALMS1 centrosome and basal body associated protein | Labai dažnai (80–99%) | 2 ligose |
| ARHGEF18Rho/Rac guanine nucleotide exchange factor 18 | Labai dažnai (80–99%) | 1 ligoje |
| ARL2BPARF like GTPase 2 binding protein | Labai dažnai (80–99%) | 1 ligoje |
| ARL3ARF like GTPase 3 | Labai dažnai (80–99%) | 1 ligoje |
| ARL6ARF like GTPase 6 | Labai dažnai (80–99%) | 2 ligose |
| BBS1Bardet-Biedl syndrome 1 | Labai dažnai (80–99%) | 2 ligose |
| BBS2Bardet-Biedl syndrome 2 | Labai dažnai (80–99%) | 2 ligose |
| BEST1bestrophin 1 | Labai dažnai (80–99%) | 2 ligose |
| CA4carbonic anhydrase 4 | Labai dažnai (80–99%) | 1 ligoje |
| CC2D2Acoiled-coil and C2 domain containing 2A | Labai dažnai (80–99%) | 2 ligose |
| CDH3cadherin 3 | Labai dažnai (80–99%) | 2 ligose |
| CDHR1cadherin related family member 1 | Labai dažnai (80–99%) | 1 ligoje |
| CERKLCERK like autophagy regulator | Labai dažnai (80–99%) | 1 ligoje |
| CFAP20cilia and flagella associated protein 20 | Labai dažnai (80–99%) | 1 ligoje |
| CFAP418cilia and flagella associated protein 418 | Labai dažnai (80–99%) | 3 ligose |
| CLRN1clarin 1 | Labai dažnai (80–99%) | 1 ligoje |
| CNGA1cyclic nucleotide gated channel subunit alpha 1 | Labai dažnai (80–99%) | 1 ligoje |
| CNGB1cyclic nucleotide gated channel subunit beta 1 | Labai dažnai (80–99%) | 1 ligoje |
| COQ8Bcoenzyme Q8B | Labai dažnai (80–99%) | 1 ligoje |
| CRB1crumbs cell polarity complex component 1 | Labai dažnai (80–99%) | 1 ligoje |
| CRXcone-rod homeobox | Labai dažnai (80–99%) | 2 ligose |
Rodyti dar 271 geną
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| DHDDSdehydrodolichyl diphosphate synthase subunit | Labai dažnai (80–99%) | 1 ligoje |
| DHX38DEAH-box helicase 38 | Labai dažnai (80–99%) | 1 ligoje |
| EYSEGF-like photoreceptor maintenance factor | Labai dažnai (80–99%) | 1 ligoje |
| FAM161AFAM161 centrosomal protein A | Labai dažnai (80–99%) | 1 ligoje |
| FRAS1Fraser extracellular matrix complex subunit 1 | Labai dažnai (80–99%) | 2 ligose |
| FREM2FRAS1 related extracellular matrix 2 | Labai dažnai (80–99%) | 1 ligoje |
| FSCN2fascin actin-bundling protein 2, retinal | Labai dažnai (80–99%) | 1 ligoje |
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Labai dažnai (80–99%) | 1 ligoje |
| GLB1galactosidase beta 1 | Labai dažnai (80–99%) | 1 ligoje |
| GRIP1glutamate receptor interacting protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| GUCA1Bguanylate cyclase activator 1B | Labai dažnai (80–99%) | 1 ligoje |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Labai dažnai (80–99%) | 1 ligoje |
| HKDC1hexokinase domain containing 1 | Labai dažnai (80–99%) | 1 ligoje |
| IDH3Aisocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha | Labai dažnai (80–99%) | 1 ligoje |
| IDH3Bisocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | Labai dažnai (80–99%) | 1 ligoje |
| IFT172intraflagellar transport 172 | Labai dažnai (80–99%) | 2 ligose |
| IFT43intraflagellar transport 43 | Labai dažnai (80–99%) | 1 ligoje |
| IFT88intraflagellar transport 88 | Labai dažnai (80–99%) | 1 ligoje |
| IMPDH1inosine monophosphate dehydrogenase 1 | Labai dažnai (80–99%) | 1 ligoje |
| IMPG1interphotoreceptor matrix proteoglycan 1 | Labai dažnai (80–99%) | 1 ligoje |
| IMPG2interphotoreceptor matrix proteoglycan 2 | Labai dažnai (80–99%) | 1 ligoje |
| KIAA1549KIAA1549 | Labai dažnai (80–99%) | 1 ligoje |
| KIZkizuna centrosomal protein | Labai dažnai (80–99%) | 1 ligoje |
| KLHL7kelch like family member 7 | Labai dažnai (80–99%) | 1 ligoje |
| LRATlecithin retinol acyltransferase | Labai dažnai (80–99%) | 1 ligoje |
| MAKmale germ cell associated kinase | Labai dažnai (80–99%) | 1 ligoje |
| MERTKMER proto-oncogene, tyrosine kinase | Labai dažnai (80–99%) | 1 ligoje |
| NDE1nudE neurodevelopment protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| NDPnorrin cystine knot growth factor NDP | Labai dažnai (80–99%) | 5 ligose |
| NEK2NIMA related kinase 2 | Labai dažnai (80–99%) | 1 ligoje |
| NR2E3nuclear receptor subfamily 2 group E member 3 | Labai dažnai (80–99%) | 1 ligoje |
| NRLneural retina leucine zipper | Labai dažnai (80–99%) | 2 ligose |
| OFD1OFD1 centriole and centriolar satellite protein | Labai dažnai (80–99%) | 1 ligoje |
| OTX2orthodenticle homeobox 2 | Labai dažnai (80–99%) | 1 ligoje |
| PCAREphotoreceptor cilium actin regulator | Labai dažnai (80–99%) | 1 ligoje |
| PDE6Aphosphodiesterase 6A | Labai dažnai (80–99%) | 1 ligoje |
| PDE6Bphosphodiesterase 6B | Labai dažnai (80–99%) | 1 ligoje |
| PDE6Gphosphodiesterase 6G | Labai dažnai (80–99%) | 1 ligoje |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Labai dažnai (80–99%) | 2 ligose |
| PRCDphotoreceptor disc component | Labai dažnai (80–99%) | 1 ligoje |
| PROM1prominin 1 | Labai dažnai (80–99%) | 1 ligoje |
| PRPF3pre-mRNA processing factor 3 | Labai dažnai (80–99%) | 1 ligoje |
| PRPF31pre-mRNA processing factor 31 | Labai dažnai (80–99%) | 2 ligose |
| PRPF4pre-mRNA splicing tri-snRNP complex factor PRPF4 | Labai dažnai (80–99%) | 1 ligoje |
| PRPF6pre-mRNA processing factor 6 | Labai dažnai (80–99%) | 1 ligoje |
| PRPF8pre-mRNA processing factor 8 | Labai dažnai (80–99%) | 1 ligoje |
| PRPH2peripherin 2 | Labai dažnai (80–99%) | 1 ligoje |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Labai dažnai (80–99%) | 1 ligoje |
| RBP3retinol binding protein 3 | Labai dažnai (80–99%) | 1 ligoje |
| RDH12retinol dehydrogenase 12 | Labai dažnai (80–99%) | 1 ligoje |
| REEP6receptor accessory protein 6 | Labai dažnai (80–99%) | 1 ligoje |
| RGRretinal G protein coupled receptor | Labai dažnai (80–99%) | 1 ligoje |
| RHOrhodopsin | Labai dažnai (80–99%) | 2 ligose |
| RLBP1retinaldehyde binding protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| RNU4-2RNA, U4 small nuclear 2 | Labai dažnai (80–99%) | 2 ligose |
| RNU6-1RNA, U6 small nuclear 1 | Labai dažnai (80–99%) | 1 ligoje |
| RNU6-2RNA, U6 small nuclear 2 | Labai dažnai (80–99%) | 1 ligoje |
| RNU6-8RNA, U6 small nuclear 8 | Labai dažnai (80–99%) | 1 ligoje |
| RNU6-9RNA, U6 small nuclear 9 | Labai dažnai (80–99%) | 1 ligoje |
| ROM1retinal outer segment membrane protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| RP1RP1 axonemal microtubule associated | Labai dažnai (80–99%) | 1 ligoje |
| RP1L1RP1 like 1 | Labai dažnai (80–99%) | 1 ligoje |
| RP2RP2 activator of ARL3 GTPase | Labai dažnai (80–99%) | 1 ligoje |
| RP9RP9 pre-mRNA splicing factor | Labai dažnai (80–99%) | 1 ligoje |
| RPE65retinoid isomerohydrolase RPE65 | Labai dažnai (80–99%) | 2 ligose |
| RPGRretinitis pigmentosa GTPase regulator | Labai dažnai (80–99%) | 1 ligoje |
| SAGS-antigen visual arrestin | Labai dažnai (80–99%) | 1 ligoje |
| SAXO6stabilizer of axonemal microtubules 6 | Labai dažnai (80–99%) | 1 ligoje |
| SCAPERS-phase cyclin A associated protein in the ER | Labai dažnai (80–99%) | 2 ligose |
| SEMA4Asemaphorin 4A | Labai dažnai (80–99%) | 2 ligose |
| SLC7A14solute carrier family 7 member 14 | Labai dažnai (80–99%) | 1 ligoje |
| SNRNP200small nuclear ribonucleoprotein U5 subunit 200 | Labai dažnai (80–99%) | 1 ligoje |
| SPATA7spermatogenesis associated 7 | Labai dažnai (80–99%) | 1 ligoje |
| TMEM216transmembrane protein 216 | Labai dažnai (80–99%) | 2 ligose |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Labai dažnai (80–99%) | 1 ligoje |
| TTC8tetratricopeptide repeat domain 8 | Labai dažnai (80–99%) | 2 ligose |
| TUBTUB bipartite transcription factor | Labai dažnai (80–99%) | 1 ligoje |
| TULP1TUB like protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| USH2Ausherin | Labai dažnai (80–99%) | 1 ligoje |
| ZNF408zinc finger protein 408 | Labai dažnai (80–99%) | 2 ligose |
| ZNF513zinc finger protein 513 | Labai dažnai (80–99%) | 1 ligoje |
| ACTBactin beta | Dažnai (30–79%) | 1 ligoje |
| BBIP1BBSome interacting protein 1 | Dažnai (30–79%) | 1 ligoje |
| BBS10Bardet-Biedl syndrome 10 | Dažnai (30–79%) | 1 ligoje |
| BBS12Bardet-Biedl syndrome 12 | Dažnai (30–79%) | 1 ligoje |
| BBS4Bardet-Biedl syndrome 4 | Dažnai (30–79%) | 1 ligoje |
| BBS5Bardet-Biedl syndrome 5 | Dažnai (30–79%) | 1 ligoje |
| BBS7Bardet-Biedl syndrome 7 | Dažnai (30–79%) | 1 ligoje |
| BBS9Bardet-Biedl syndrome 9 | Dažnai (30–79%) | 1 ligoje |
| CEP19centrosomal protein 19 | Dažnai (30–79%) | 1 ligoje |
| CEP290centrosomal protein 290 | Dažnai (30–79%) | 2 ligose |
| DHX37DEAH-box helicase 37 | Dažnai (30–79%) | 1 ligoje |
| GUCY2Dguanylate cyclase 2D, retinal | Dažnai (30–79%) | 1 ligoje |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Dažnai (30–79%) | 1 ligoje |
| IFT27intraflagellar transport 27 | Dažnai (30–79%) | 1 ligoje |
| IFT74intraflagellar transport 74 | Dažnai (30–79%) | 1 ligoje |
| LZTFL1leucine zipper transcription factor like 1 | Dažnai (30–79%) | 1 ligoje |
| MKKSMKKS centrosomal shuttling protein | Dažnai (30–79%) | 1 ligoje |
| MKS1MKS transition zone complex subunit 1 | Dažnai (30–79%) | 1 ligoje |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Dažnai (30–79%) | 3 ligose |
| NPHP1nephrocystin 1 | Dažnai (30–79%) | 1 ligoje |
| OATornithine aminotransferase | Dažnai (30–79%) | 2 ligose |
| PEX6peroxisomal biogenesis factor 6 | Dažnai (30–79%) | 1 ligoje |
| RBMXRNA binding motif protein X-linked | Dažnai (30–79%) | 2 ligose |
| SCLT1sodium channel and clathrin linker 1 | Dažnai (30–79%) | 1 ligoje |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Dažnai (30–79%) | 1 ligoje |
| SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1 | Dažnai (30–79%) | 1 ligoje |
| TMEM138transmembrane protein 138 | Dažnai (30–79%) | 1 ligoje |
| TMEM231transmembrane protein 231 | Dažnai (30–79%) | 1 ligoje |
| TMEM237transmembrane protein 237 | Dažnai (30–79%) | 1 ligoje |
| TRIM32tripartite motif containing 32 | Dažnai (30–79%) | 1 ligoje |
| WDPCPWD repeat containing planar cell polarity effector | Dažnai (30–79%) | 1 ligoje |
| ZNF423zinc finger protein 423 | Dažnai (30–79%) | 1 ligoje |
| AIPAHR interacting HSP90 co-chaperone | Kartais (5–29%) | 1 ligoje |
| ASPAaspartoacylase | Kartais (5–29%) | 2 ligose |
| ATOH7atonal bHLH transcription factor 7 | Kartais (5–29%) | 1 ligoje |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Kartais (5–29%) | 1 ligoje |
| ATP5F1AATP synthase F1 subunit alpha | Kartais (5–29%) | 1 ligoje |
| ATP5F1DATP synthase F1 subunit delta | Kartais (5–29%) | 1 ligoje |
| ATP5F1EATP synthase F1 subunit epsilon | Kartais (5–29%) | 1 ligoje |
| ATP5MKATP synthase membrane subunit k | Kartais (5–29%) | 1 ligoje |
| ATP5POATP synthase peripheral stalk subunit OSCP | Kartais (5–29%) | 1 ligoje |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Kartais (5–29%) | 1 ligoje |
| ATRXATRX chromatin remodeler | Kartais (5–29%) | 1 ligoje |
| ATXN7ataxin 7 | Kartais (5–29%) | 1 ligoje |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Kartais (5–29%) | 1 ligoje |
| BTNL2butyrophilin like 2 | Kartais (5–29%) | 1 ligoje |
| C4Acomplement C4A (Chido/Rodgers blood group) | Kartais (5–29%) | 1 ligoje |
| CCR1C-C motif chemokine receptor 1 | Kartais (5–29%) | 1 ligoje |
| CDH23cadherin related 23 | Kartais (5–29%) | 2 ligose |
| CEP164centrosomal protein 164 | Kartais (5–29%) | 1 ligoje |
| CLCN7Cl-/H+ antiporter 7 | Kartais (5–29%) | 1 ligoje |
| COX7Bcytochrome c oxidase subunit 7B | Kartais (5–29%) | 1 ligoje |
| CREBBPCREB binding lysine acetyltransferase | Kartais (5–29%) | 1 ligoje |
| CTNNB1catenin beta 1 | Kartais (5–29%) | 1 ligoje |
| CYP4V2cytochrome P450 family 4 subfamily V member 2 | Kartais (5–29%) | 1 ligoje |
| EIF2B1eukaryotic translation initiation factor 2B subunit alpha | Kartais (5–29%) | 1 ligoje |
| ERAP1endoplasmic reticulum aminopeptidase 1 | Kartais (5–29%) | 1 ligoje |
| FASFas cell surface death receptor | Kartais (5–29%) | 1 ligoje |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Kartais (5–29%) | 1 ligoje |
| FZD4frizzled class receptor 4 | Kartais (5–29%) | 4 ligose |
| GALCgalactosylceramidase | Kartais (5–29%) | 3 ligose |
| GNAQG protein subunit alpha q | Kartais (5–29%) | 1 ligoje |
| HCCSholocytochrome c synthase | Kartais (5–29%) | 1 ligoje |
| HLA-Bmajor histocompatibility complex, class I, B | Kartais (5–29%) | 1 ligoje |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Kartais (5–29%) | 1 ligoje |
| IFNGR1interferon gamma receptor 1 | Kartais (5–29%) | 1 ligoje |
| IL10interleukin 10 | Kartais (5–29%) | 1 ligoje |
| IL12Ainterleukin 12A | Kartais (5–29%) | 1 ligoje |
| IL12A-AS1IL12A antisense RNA 1 | Kartais (5–29%) | 1 ligoje |
| IL23Rinterleukin 23 receptor | Kartais (5–29%) | 1 ligoje |
| KIF11kinesin family member 11 | Kartais (5–29%) | 1 ligoje |
| KLRC4killer cell lectin like receptor C4 | Kartais (5–29%) | 1 ligoje |
| LAMB2laminin subunit beta 2 | Kartais (5–29%) | 1 ligoje |
| LONP1lon peptidase 1, mitochondrial | Kartais (5–29%) | 1 ligoje |
| MEFVMEFV innate immunity regulator, pyrin | Kartais (5–29%) | 1 ligoje |
| MEN1menin 1 | Kartais (5–29%) | 1 ligoje |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Kartais (5–29%) | 1 ligoje |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Kartais (5–29%) | 1 ligoje |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Kartais (5–29%) | 1 ligoje |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Kartais (5–29%) | 1 ligoje |
| MTR5-methyltetrahydrofolate-homocysteine methyltransferase | Kartais (5–29%) | 1 ligoje |
| MTRR5-methyltetrahydrofolate-homocysteine methyltransferase reductase | Kartais (5–29%) | 1 ligoje |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Kartais (5–29%) | 1 ligoje |
| NDUFA11NADH:ubiquinone oxidoreductase subunit A11 | Kartais (5–29%) | 1 ligoje |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Kartais (5–29%) | 1 ligoje |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Kartais (5–29%) | 1 ligoje |
| NDUFAF1NADH:ubiquinone oxidoreductase complex assembly factor 1 | Kartais (5–29%) | 1 ligoje |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Kartais (5–29%) | 1 ligoje |
| NDUFAF3NADH:ubiquinone oxidoreductase complex assembly factor 3 | Kartais (5–29%) | 1 ligoje |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Kartais (5–29%) | 1 ligoje |
| NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5 | Kartais (5–29%) | 1 ligoje |
| NDUFAF8NADH:ubiquinone oxidoreductase complex assembly factor 8 | Kartais (5–29%) | 1 ligoje |
| NDUFB10NADH:ubiquinone oxidoreductase subunit B10 | Kartais (5–29%) | 1 ligoje |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Kartais (5–29%) | 2 ligose |
| NDUFB3NADH:ubiquinone oxidoreductase subunit B3 | Kartais (5–29%) | 1 ligoje |
| NDUFB9NADH:ubiquinone oxidoreductase subunit B9 | Kartais (5–29%) | 1 ligoje |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Kartais (5–29%) | 1 ligoje |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Kartais (5–29%) | 1 ligoje |
| NDUFS3NADH:ubiquinone oxidoreductase core subunit S3 | Kartais (5–29%) | 1 ligoje |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Kartais (5–29%) | 2 ligose |
| NDUFS6NADH:ubiquinone oxidoreductase subunit S6 | Kartais (5–29%) | 1 ligoje |
| NDUFS7NADH:ubiquinone oxidoreductase core subunit S7 | Kartais (5–29%) | 1 ligoje |
| NDUFS8NADH:ubiquinone oxidoreductase core subunit S8 | Kartais (5–29%) | 1 ligoje |
| NDUFV2NADH:ubiquinone oxidoreductase core subunit V2 | Kartais (5–29%) | 1 ligoje |
| NF1neurofibromin 1 | Kartais (5–29%) | 1 ligoje |
| NF2NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | Kartais (5–29%) | 2 ligose |
| NLRP3NLR family pyrin domain containing 3 | Kartais (5–29%) | 1 ligoje |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Kartais (5–29%) | 1 ligoje |
| OPA1OPA1 mitochondrial dynamin like GTPase | Kartais (5–29%) | 1 ligoje |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Kartais (5–29%) | 1 ligoje |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Kartais (5–29%) | 1 ligoje |
| PLA2G6phospholipase A2 group VI | Kartais (5–29%) | 1 ligoje |
| POLGDNA polymerase gamma, catalytic subunit | Kartais (5–29%) | 1 ligoje |
| PSAPprosaposin | Kartais (5–29%) | 1 ligoje |
| STAT4signal transducer and activator of transcription 4 | Kartais (5–29%) | 1 ligoje |
| TIMMDC1translocase of inner mitochondrial membrane domain containing 1 | Kartais (5–29%) | 1 ligoje |
| TIMP3TIMP metallopeptidase inhibitor 3 | Kartais (5–29%) | 2 ligose |
| TLR4toll like receptor 4 | Kartais (5–29%) | 1 ligoje |
| TM2D3TM2 domain containing 3 | Kartais (5–29%) | 1 ligoje |
| TMEM126Btransmembrane protein 126B | Kartais (5–29%) | 1 ligoje |
| TNFSF11TNF superfamily member 11 | Kartais (5–29%) | 1 ligoje |
| TSPAN12tetraspanin 12 | Kartais (5–29%) | 1 ligoje |
| UBAC2UBA domain containing 2 | Kartais (5–29%) | 1 ligoje |
| ABCD1ATP binding cassette subfamily D member 1 | Retai (1–4 %) | 2 ligose |
| AKT1AKT serine/threonine kinase 1 | Retai (1–4 %) | 1 ligoje |
| BAP1BRCA1 associated deubiquitinase 1 | Retai (1–4 %) | 1 ligoje |
| CD109CD109 molecule | Retai (1–4 %) | 1 ligoje |
| FKRPfukutin related protein | Retai (1–4 %) | 2 ligose |
| GATA1GATA binding protein 1 | Retai (1–4 %) | 1 ligoje |
| GMPPBGDP-mannose pyrophosphorylase B | Retai (1–4 %) | 1 ligoje |
| GP1BAglycoprotein Ib platelet subunit alpha | Retai (1–4 %) | 1 ligoje |
| GP1BBglycoprotein Ib platelet subunit beta | Retai (1–4 %) | 1 ligoje |
| ITGA2integrin subunit alpha 2 | Retai (1–4 %) | 1 ligoje |
| ITGA2Bintegrin subunit alpha 2b | Retai (1–4 %) | 1 ligoje |
| ITGB3integrin subunit beta 3 | Retai (1–4 %) | 1 ligoje |
| MTTPmicrosomal triglyceride transfer protein | Retai (1–4 %) | 1 ligoje |
| PANK2pantothenate kinase 2 | Retai (1–4 %) | 2 ligose |
| PDGFBplatelet derived growth factor subunit B | Retai (1–4 %) | 1 ligoje |
| PGK1phosphoglycerate kinase 1 | Retai (1–4 %) | 1 ligoje |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Retai (1–4 %) | 1 ligoje |
| POGZpogo transposable element derived with ZNF domain | Retai (1–4 %) | 1 ligoje |
| POMKprotein O-mannose kinase | Retai (1–4 %) | 1 ligoje |
| POMT1protein O-mannosyltransferase 1 | Retai (1–4 %) | 2 ligose |
| POMT2protein O-mannosyltransferase 2 | Retai (1–4 %) | 2 ligose |
| PQBP1polyglutamine binding protein 1 | Retai (1–4 %) | 1 ligoje |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Retai (1–4 %) | 1 ligoje |
| SDHAF1succinate dehydrogenase complex assembly factor 1 | Retai (1–4 %) | 1 ligoje |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Retai (1–4 %) | 1 ligoje |
| SDHDsuccinate dehydrogenase complex subunit D | Retai (1–4 %) | 1 ligoje |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Retai (1–4 %) | 1 ligoje |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Retai (1–4 %) | 1 ligoje |
| SMOsmoothened, frizzled class receptor | Retai (1–4 %) | 1 ligoje |
| SUFUSUFU negative regulator of hedgehog signaling | Retai (1–4 %) | 1 ligoje |
| TERTtelomerase reverse transcriptase | Retai (1–4 %) | 1 ligoje |
| TRAF7TNF receptor associated factor 7 | Retai (1–4 %) | 1 ligoje |
| UFM1ubiquitin fold modifier 1 | Retai (1–4 %) | 1 ligoje |
| URODuroporphyrinogen decarboxylase | Retai (1–4 %) | 1 ligoje |
| UROSuroporphyrinogen III synthase | Retai (1–4 %) | 1 ligoje |
| ADAMTS10ADAM metallopeptidase with thrombospondin type 1 motif 10 | Neužfiksuota | 1 ligoje |
| AIPL1AIP like 1 HSP90 co-chaperone | Neužfiksuota | 1 ligoje |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Neužfiksuota | 1 ligoje |
| BCORBCL6 corepressor | Neužfiksuota | 1 ligoje |
| BMP4bone morphogenetic protein 4 | Neužfiksuota | 1 ligoje |
| CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin | Neužfiksuota | 1 ligoje |
| COL2A1collagen type II alpha 1 chain | Neužfiksuota | 1 ligoje |
| CTC1CST telomere replication complex component 1 | Neužfiksuota | 1 ligoje |
| FBN1fibrillin 1 | Neužfiksuota | 1 ligoje |
| FKTNfukutin | Neužfiksuota | 1 ligoje |
| FLVCR1FLVCR choline and heme transporter 1 | Neužfiksuota | 1 ligoje |
| GJB2gap junction protein beta 2 | Neužfiksuota | 1 ligoje |
| GM2Aganglioside GM2 activator | Neužfiksuota | 1 ligoje |
| GNASGNAS complex locus | Neužfiksuota | 1 ligoje |
| HEXAhexosaminidase subunit alpha | Neužfiksuota | 1 ligoje |
| HEXBhexosaminidase subunit beta | Neužfiksuota | 1 ligoje |
| HPS1HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 | Neužfiksuota | 1 ligoje |
| KIF14kinesin family member 14 | Neužfiksuota | 1 ligoje |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Neužfiksuota | 1 ligoje |
| MFSD8major facilitator superfamily domain containing 8 | Neužfiksuota | 1 ligoje |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Neužfiksuota | 1 ligoje |
| PIK3R2phosphoinositide-3-kinase regulatory subunit 2 | Neužfiksuota | 1 ligoje |
| PITX3paired like homeodomain 3 | Neužfiksuota | 1 ligoje |
| PLGplasminogen | Neužfiksuota | 1 ligoje |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Neužfiksuota | 1 ligoje |
| PPT1palmitoyl-protein thioesterase 1 | Neužfiksuota | 1 ligoje |
| PROS1protein S | Neužfiksuota | 1 ligoje |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Neužfiksuota | 1 ligoje |
| SREBF1sterol regulatory element binding transcription factor 1 | Neužfiksuota | 1 ligoje |
| TBC1D24TBC1 domain family member 24 | Neužfiksuota | 1 ligoje |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Neužfiksuota | 1 ligoje |
| TMEM67transmembrane protein 67 | Neužfiksuota | 1 ligoje |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
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- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
- Duomenų leidimas 2026.10.16-c6eea6bf.
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