Požymis
Decreased clarity of vision
Klinikinis pavadinimas: Reduced visual acuity
Santrauka
- Taip pat vadinama
- Decreased central vision, Decreased visual acuity, Poor visual acuity
- Kūno sistema
- Abnormality of the eye
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
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Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Decreased clarity of vision. 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 |
|---|---|---|
| ABCA4ATP binding cassette subfamily A member 4 | Visada | 4 ligose |
| ACO2aconitase 2 | Visada | 1 ligoje |
| AHRaryl hydrocarbon receptor | Visada | 2 ligose |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Visada | 2 ligose |
| AP3B1adaptor related protein complex 3 subunit beta 1 | Visada | 1 ligoje |
| ARHGEF18Rho/Rac guanine nucleotide exchange factor 18 | Visada | 2 ligose |
| ARL2ARF like GTPase 2 | Visada | 1 ligoje |
| ARL2BPARF like GTPase 2 binding protein | Visada | 2 ligose |
| ARL3ARF like GTPase 3 | Visada | 2 ligose |
| ARL6ARF like GTPase 6 | Visada | 3 ligose |
| ATF6activating transcription factor 6 | Visada | 2 ligose |
| BBS1Bardet-Biedl syndrome 1 | Visada | 3 ligose |
| BBS2Bardet-Biedl syndrome 2 | Visada | 3 ligose |
| BBS5Bardet-Biedl syndrome 5 | Visada | 2 ligose |
| BLOC1S3biogenesis of lysosomal organelles complex 1 subunit 3 | Visada | 1 ligoje |
| BLOC1S5biogenesis of lysosomal organelles complex 1 subunit 5 | Visada | 1 ligoje |
| BORCS8BLOC-1 related complex subunit 8 | Visada | 1 ligoje |
| CACNA1Fcalcium voltage-gated channel subunit alpha1 F | Visada | 3 ligose |
| CC2D2Acoiled-coil and C2 domain containing 2A | Visada | 2 ligose |
| CCDC28Bcoiled-coil domain containing 28B | Visada | 1 ligoje |
| CDH3cadherin 3 | Visada | 1 ligoje |
| CEP250centrosomal protein 250 | Visada | 1 ligoje |
| CEP290centrosomal protein 290 | Visada | 3 ligose |
| CHRDL1chordin like 1 | Visada | 1 ligoje |
| CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin | Visada | 2 ligose |
| CLRN1clarin 1 | Visada | 2 ligose |
| CNGA1cyclic nucleotide gated channel subunit alpha 1 | Visada | 2 ligose |
| CNGA3cyclic nucleotide gated channel subunit alpha 3 | Visada | 2 ligose |
| CNGB3cyclic nucleotide gated channel subunit beta 3 | Visada | 2 ligose |
| CRB1crumbs cell polarity complex component 1 | Visada | 3 ligose |
| CRXcone-rod homeobox | Visada | 2 ligose |
| DCTdopachrome tautomerase | Visada | 1 ligoje |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Visada | 2 ligose |
| DNA2DNA replication helicase/nuclease 2 | Visada | 1 ligoje |
| DTNBP1dystrobrevin binding protein 1 | Visada | 1 ligoje |
| EBPEBP cholestenol delta-isomerase | Visada | 1 ligoje |
| ELOVL4ELOVL fatty acid elongase 4 | Visada | 2 ligose |
| EPG5ectopic P-granules 5 autophagy tethering factor | Visada | 1 ligoje |
| FBN1fibrillin 1 | Visada | 1 ligoje |
| FDXRferredoxin reductase | Visada | 1 ligoje |
Rodyti dar 322 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| FOXE3forkhead box E3 | Visada | 1 ligoje |
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Visada | 2 ligose |
| GPR143G protein-coupled receptor 143 | Visada | 2 ligose |
| GUCY2Dguanylate cyclase 2D, retinal | Visada | 3 ligose |
| HPS3HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 | Visada | 1 ligoje |
| HPS4HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 | Visada | 1 ligoje |
| HPS5HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 | Visada | 1 ligoje |
| HPS6HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 | Visada | 1 ligoje |
| IMPDH1inosine monophosphate dehydrogenase 1 | Visada | 3 ligose |
| IMPG2interphotoreceptor matrix proteoglycan 2 | Visada | 3 ligose |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Visada | 1 ligoje |
| ITM2Bintegral membrane protein 2B | Visada | 1 ligoje |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Visada | 1 ligoje |
| KCNJ13potassium inwardly rectifying channel subfamily J member 13 | Visada | 2 ligose |
| KERAkeratocan | Visada | 1 ligoje |
| KLC4kinesin light chain 4 | Visada | 1 ligoje |
| KLHL7kelch like family member 7 | Visada | 2 ligose |
| LAMB2laminin subunit beta 2 | Visada | 1 ligoje |
| LIM2lens intrinsic membrane protein 2 | Visada | 1 ligoje |
| LRIT3leucine rich repeat, Ig-like and transmembrane domains 3 | Visada | 1 ligoje |
| LRMDAleucine rich melanocyte differentiation associated | Visada | 1 ligoje |
| LRP5LDL receptor related protein 5 | Visada | 5 ligose |
| MAGmyelin associated glycoprotein | Visada | 1 ligoje |
| MAKmale germ cell associated kinase | Visada | 2 ligose |
| MARK3microtubule affinity regulating kinase 3 | Visada | 1 ligoje |
| MCATmalonyl-CoA-acyl carrier protein transacylase | Visada | 1 ligoje |
| MFRPmembrane frizzled-related protein | Visada | 2 ligose |
| MFSD8major facilitator superfamily domain containing 8 | Visada | 1 ligoje |
| MIEF1mitochondrial elongation factor 1 | Visada | 1 ligoje |
| MTRFRmitochondrial translation release factor in rescue | Visada | 2 ligose |
| NDPnorrin cystine knot growth factor NDP | Visada | 4 ligose |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Visada | 1 ligoje |
| NR2E3nuclear receptor subfamily 2 group E member 3 | Visada | 2 ligose |
| NR2F1nuclear receptor subfamily 2 group F member 1 | Visada | 2 ligose |
| NRLneural retina leucine zipper | Visada | 3 ligose |
| PANK4pantothenate kinase 4 (inactive) | Visada | 1 ligoje |
| PAX2paired box 2 | Visada | 1 ligoje |
| PAX6paired box 6 | Visada | 5 ligose |
| PCYT2phosphate cytidylyltransferase 2, ethanolamine | Visada | 1 ligoje |
| PDE6Cphosphodiesterase 6C | Visada | 2 ligose |
| PDE6Gphosphodiesterase 6G | Visada | 2 ligose |
| PDE6Hphosphodiesterase 6H | Visada | 2 ligose |
| PDXKpyridoxal kinase | Visada | 1 ligoje |
| PEX7peroxisomal biogenesis factor 7 | Visada | 1 ligoje |
| POC1BPOC1 centriolar protein B | Visada | 1 ligoje |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Visada | 2 ligose |
| PROM1prominin 1 | Visada | 5 ligose |
| PRPF4pre-mRNA splicing tri-snRNP complex factor PRPF4 | Visada | 2 ligose |
| PRPF6pre-mRNA processing factor 6 | Visada | 2 ligose |
| PRPH2peripherin 2 | Visada | 6 ligose |
| PXDNperoxidasin | Visada | 1 ligoje |
| RAB28RAB28, member RAS oncogene family | Visada | 1 ligoje |
| RAB3ARAB3A, member RAS oncogene family | Visada | 1 ligoje |
| RAX2retina and anterior neural fold homeobox 2 | Visada | 1 ligoje |
| RBP3retinol binding protein 3 | Visada | 2 ligose |
| RBP4retinol binding protein 4 | Visada | 1 ligoje |
| REEP6receptor accessory protein 6 | Visada | 2 ligose |
| RFT1RFT1 glycolipid translocator homolog | Visada | 1 ligoje |
| RGS9regulator of G protein signaling 9 | Visada | 1 ligoje |
| RGS9BPregulator of G protein signaling 9 binding protein | Visada | 1 ligoje |
| RHOrhodopsin | Visada | 2 ligose |
| RIMS2regulating synaptic membrane exocytosis 2 | Visada | 1 ligoje |
| RLBP1retinaldehyde binding protein 1 | Visada | 2 ligose |
| RP1L1RP1 like 1 | Visada | 2 ligose |
| RPE65retinoid isomerohydrolase RPE65 | Visada | 3 ligose |
| RPGRretinitis pigmentosa GTPase regulator | Visada | 5 ligose |
| RPGRIP1RPGR interacting protein 1 | Visada | 2 ligose |
| RTN4IP1reticulon 4 interacting protein 1 | Visada | 1 ligoje |
| SALL2spalt like transcription factor 2 | Visada | 1 ligoje |
| SCAPERS-phase cyclin A associated protein in the ER | Visada | 3 ligose |
| SCO2synthesis of cytochrome C oxidase 2 | Visada | 1 ligoje |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Visada | 2 ligose |
| SLC24A5solute carrier family 24 member 5 | Visada | 2 ligose |
| SLC38A8solute carrier family 38 member 8 | Visada | 1 ligoje |
| SLC4A2solute carrier family 4 member 2 | Visada | 1 ligoje |
| SLC7A14solute carrier family 7 member 14 | Visada | 2 ligose |
| TBC1D32TBC1 domain family member 32 | Visada | 2 ligose |
| TENM3teneurin transmembrane protein 3 | Visada | 1 ligoje |
| TGFBItransforming growth factor beta induced | Visada | 6 ligose |
| TLCD3BTLC domain containing 3B | Visada | 1 ligoje |
| TMEM216transmembrane protein 216 | Visada | 2 ligose |
| TMEM98transmembrane protein 98 | Visada | 1 ligoje |
| TOMM7translocase of outer mitochondrial membrane 7 | Visada | 1 ligoje |
| TRIM44TRIM family member 44 | Visada | 2 ligose |
| TRPM1transient receptor potential cation channel subfamily M member 1 | Visada | 1 ligoje |
| TTC8tetratricopeptide repeat domain 8 | Visada | 3 ligose |
| TTLL5tubulin tyrosine ligase like 5 | Visada | 1 ligoje |
| TUBTUB bipartite transcription factor | Visada | 2 ligose |
| TUBA3Dtubulin alpha 3d | Visada | 1 ligoje |
| TUBB4Btubulin beta 4B class IVb | Visada | 1 ligoje |
| TULP1TUB like protein 1 | Visada | 3 ligose |
| UCHL1ubiquitin C-terminal hydrolase L1 | Visada | 1 ligoje |
| VWA8von Willebrand factor A domain containing 8 | Visada | 1 ligoje |
| WFS1wolframin ER transmembrane glycoprotein | Visada | 1 ligoje |
| ZEB1zinc finger E-box binding homeobox 1 | Visada | 4 ligose |
| ZNF408zinc finger protein 408 | Visada | 4 ligose |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Labai dažnai (80–99%) | 1 ligoje |
| AGBL1AGBL carboxypeptidase 1 | Labai dažnai (80–99%) | 1 ligoje |
| AIREautoimmune regulator | Labai dažnai (80–99%) | 2 ligose |
| ATOH7atonal bHLH transcription factor 7 | Labai dažnai (80–99%) | 1 ligoje |
| COL8A2collagen type VIII alpha 2 chain | Labai dažnai (80–99%) | 2 ligose |
| CYP4V2cytochrome P450 family 4 subfamily V member 2 | Labai dažnai (80–99%) | 1 ligoje |
| DNMBPdynamin binding protein | Labai dažnai (80–99%) | 1 ligoje |
| FOXC1forkhead box C1 | Labai dažnai (80–99%) | 1 ligoje |
| FZD4frizzled class receptor 4 | Labai dažnai (80–99%) | 4 ligose |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Labai dažnai (80–99%) | 3 ligose |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Labai dažnai (80–99%) | 1 ligoje |
| RP1RP1 axonemal microtubule associated | Labai dažnai (80–99%) | 2 ligose |
| SAGS-antigen visual arrestin | Labai dažnai (80–99%) | 2 ligose |
| SAMD7sterile alpha motif domain containing 7 | Labai dažnai (80–99%) | 1 ligoje |
| SLC45A2solute carrier family 45 member 2 | Labai dažnai (80–99%) | 1 ligoje |
| SLC4A11solute carrier family 4 member 11 | Labai dažnai (80–99%) | 3 ligose |
| TCF4transcription factor 4 | Labai dažnai (80–99%) | 1 ligoje |
| UBAP1Lubiquitin associated protein 1 like | Labai dažnai (80–99%) | 1 ligoje |
| ADGRV1adhesion G protein-coupled receptor V1 | Dažnai (30–79%) | 1 ligoje |
| ALMS1ALMS1 centrosome and basal body associated protein | Dažnai (30–79%) | 1 ligoje |
| ASPHaspartate beta-hydroxylase | Dažnai (30–79%) | 1 ligoje |
| ATXN7ataxin 7 | 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 |
| BBS7Bardet-Biedl syndrome 7 | Dažnai (30–79%) | 1 ligoje |
| BBS9Bardet-Biedl syndrome 9 | Dažnai (30–79%) | 1 ligoje |
| CABP4calcium binding protein 4 | Dažnai (30–79%) | 1 ligoje |
| CDH23cadherin related 23 | Dažnai (30–79%) | 1 ligoje |
| CEP19centrosomal protein 19 | Dažnai (30–79%) | 1 ligoje |
| CFAP410cilia and flagella associated protein 410 | Dažnai (30–79%) | 1 ligoje |
| CFAP418cilia and flagella associated protein 418 | Dažnai (30–79%) | 3 ligose |
| CHP1calcineurin like EF-hand protein 1 | Dažnai (30–79%) | 1 ligoje |
| CLCN7Cl-/H+ antiporter 7 | Dažnai (30–79%) | 1 ligoje |
| CLEC3BC-type lectin domain family 3 member B | Dažnai (30–79%) | 1 ligoje |
| CTNNA1catenin alpha 1 | Dažnai (30–79%) | 1 ligoje |
| CTNNB1catenin beta 1 | Dažnai (30–79%) | 1 ligoje |
| ESPNespin | Dažnai (30–79%) | 1 ligoje |
| FZD5frizzled class receptor 5 | Dažnai (30–79%) | 1 ligoje |
| GNAT2G protein subunit alpha transducin 2 | Dažnai (30–79%) | 1 ligoje |
| GSNgelsolin | Dažnai (30–79%) | 1 ligoje |
| GUCA1Aguanylate cyclase activator 1A | Dažnai (30–79%) | 2 ligose |
| H4C9H4 clustered histone 9 | Dažnai (30–79%) | 1 ligoje |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Dažnai (30–79%) | 2 ligose |
| IFT172intraflagellar transport 172 | Dažnai (30–79%) | 2 ligose |
| IFT27intraflagellar transport 27 | Dažnai (30–79%) | 1 ligoje |
| IFT74intraflagellar transport 74 | Dažnai (30–79%) | 1 ligoje |
| KIDINS220kinase D interacting substrate 220 | Dažnai (30–79%) | 1 ligoje |
| KIZkizuna centrosomal protein | Dažnai (30–79%) | 2 ligose |
| LAMP2lysosome associated membrane protein 2 | Dažnai (30–79%) | 1 ligoje |
| LCA5lebercilin LCA5 | Dažnai (30–79%) | 1 ligoje |
| LRATlecithin retinol acyltransferase | Dažnai (30–79%) | 3 ligose |
| LYSTlysosomal trafficking regulator | Dažnai (30–79%) | 2 ligose |
| LZTFL1leucine zipper transcription factor like 1 | Dažnai (30–79%) | 1 ligoje |
| MC1Rmelanocortin 1 receptor | Dažnai (30–79%) | 2 ligose |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Dažnai (30–79%) | 3 ligose |
| MKKSMKKS centrosomal shuttling protein | Dažnai (30–79%) | 1 ligoje |
| MKS1MKS transition zone complex subunit 1 | Dažnai (30–79%) | 1 ligoje |
| MTFMTmitochondrial methionyl-tRNA formyltransferase | Dažnai (30–79%) | 1 ligoje |
| MYO7Amyosin VIIA | Dažnai (30–79%) | 2 ligose |
| NF2NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | Dažnai (30–79%) | 1 ligoje |
| NHSNHS actin remodeling regulator | Dažnai (30–79%) | 1 ligoje |
| NPHP1nephrocystin 1 | Dažnai (30–79%) | 1 ligoje |
| OCA2OCA2 melanosomal transmembrane protein | Dažnai (30–79%) | 2 ligose |
| OTX2orthodenticle homeobox 2 | Dažnai (30–79%) | 1 ligoje |
| PCDH15protocadherin related 15 | Dažnai (30–79%) | 1 ligoje |
| PDZD7PDZ domain containing 7 | Dažnai (30–79%) | 1 ligoje |
| PI4KAphosphatidylinositol 4-kinase alpha | Dažnai (30–79%) | 1 ligoje |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Dažnai (30–79%) | 2 ligose |
| POU3F4POU class 3 homeobox 4 | Dažnai (30–79%) | 1 ligoje |
| PUF60poly(U) binding splicing factor 60 | Dažnai (30–79%) | 1 ligoje |
| SCLT1sodium channel and clathrin linker 1 | Dažnai (30–79%) | 1 ligoje |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Dažnai (30–79%) | 1 ligoje |
| SDHAF1succinate dehydrogenase complex assembly factor 1 | Dažnai (30–79%) | 1 ligoje |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Dažnai (30–79%) | 1 ligoje |
| SDHDsuccinate dehydrogenase complex subunit D | Dažnai (30–79%) | 1 ligoje |
| SELENOIselenoprotein I | Dažnai (30–79%) | 2 ligose |
| SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | Dažnai (30–79%) | 1 ligoje |
| SPATA7spermatogenesis associated 7 | Dažnai (30–79%) | 2 ligose |
| TACSTD2tumor associated calcium signal transducer 2 | Dažnai (30–79%) | 2 ligose |
| TRIM32tripartite motif containing 32 | Dažnai (30–79%) | 1 ligoje |
| TSEN15tRNA splicing endonuclease subunit 15 | Dažnai (30–79%) | 1 ligoje |
| TSEN2tRNA splicing endonuclease subunit 2 | Dažnai (30–79%) | 1 ligoje |
| TSEN34tRNA splicing endonuclease subunit 34 | Dažnai (30–79%) | 1 ligoje |
| TSEN54tRNA splicing endonuclease subunit 54 | Dažnai (30–79%) | 1 ligoje |
| TSPAN12tetraspanin 12 | Dažnai (30–79%) | 2 ligose |
| UNC119unc-119 lipid binding chaperone | Dažnai (30–79%) | 1 ligoje |
| USH1CUSH1 protein network component harmonin | Dažnai (30–79%) | 1 ligoje |
| USH1GUSH1 protein network component sans | Dažnai (30–79%) | 1 ligoje |
| USH2Ausherin | Dažnai (30–79%) | 2 ligose |
| VCANversican | Dažnai (30–79%) | 1 ligoje |
| VSX1visual system homeobox 1 | Dažnai (30–79%) | 2 ligose |
| WDPCPWD repeat containing planar cell polarity effector | Dažnai (30–79%) | 1 ligoje |
| WHRNwhirlin | Dažnai (30–79%) | 1 ligoje |
| ABCC6ATP binding cassette subfamily C member 6 | Kartais (5–29%) | 2 ligose |
| ABCD1ATP binding cassette subfamily D member 1 | Kartais (5–29%) | 1 ligoje |
| AGBL5AGBL carboxypeptidase 5 | Kartais (5–29%) | 1 ligoje |
| AHI1Abelson helper integration site 1 | Kartais (5–29%) | 1 ligoje |
| ANKRD55ankyrin repeat domain 55 | Kartais (5–29%) | 1 ligoje |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Kartais (5–29%) | 1 ligoje |
| ARMC9armadillo repeat containing 9 | Kartais (5–29%) | 1 ligoje |
| ARSAarylsulfatase A | Kartais (5–29%) | 3 ligose |
| BEST1bestrophin 1 | Kartais (5–29%) | 4 ligose |
| CA4carbonic anhydrase 4 | Kartais (5–29%) | 1 ligoje |
| CD247CD247 molecule | Kartais (5–29%) | 1 ligoje |
| CDC42cell division cycle 42 | Kartais (5–29%) | 1 ligoje |
| CDHR1cadherin related family member 1 | Kartais (5–29%) | 1 ligoje |
| CERKLCERK like autophagy regulator | Kartais (5–29%) | 1 ligoje |
| CFAP20cilia and flagella associated protein 20 | Kartais (5–29%) | 1 ligoje |
| CNGB1cyclic nucleotide gated channel subunit beta 1 | Kartais (5–29%) | 1 ligoje |
| COQ8Bcoenzyme Q8B | Kartais (5–29%) | 1 ligoje |
| CRLS1cardiolipin synthase 1 | Kartais (5–29%) | 1 ligoje |
| CYP1B1cytochrome P450 family 1 subfamily B member 1 | Kartais (5–29%) | 1 ligoje |
| DHX38DEAH-box helicase 38 | Kartais (5–29%) | 1 ligoje |
| DLDdihydrolipoamide dehydrogenase | Kartais (5–29%) | 1 ligoje |
| DOT1LDOT1 like histone lysine methyltransferase | Kartais (5–29%) | 1 ligoje |
| EYSEGF-like photoreceptor maintenance factor | Kartais (5–29%) | 1 ligoje |
| FAM161AFAM161 centrosomal protein A | Kartais (5–29%) | 1 ligoje |
| FBXL4F-box and leucine rich repeat protein 4 | Kartais (5–29%) | 1 ligoje |
| FSCN2fascin actin-bundling protein 2, retinal | Kartais (5–29%) | 1 ligoje |
| FXNfrataxin | Kartais (5–29%) | 2 ligose |
| GPR179G protein-coupled receptor 179 | Kartais (5–29%) | 1 ligoje |
| GRHL2grainyhead like transcription factor 2 | Kartais (5–29%) | 2 ligose |
| GUCA1Bguanylate cyclase activator 1B | Kartais (5–29%) | 1 ligoje |
| HKDC1hexokinase domain containing 1 | Kartais (5–29%) | 1 ligoje |
| IDH3Aisocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha | Kartais (5–29%) | 2 ligose |
| IDH3Bisocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | Kartais (5–29%) | 1 ligoje |
| IFT140intraflagellar transport 140 | Kartais (5–29%) | 1 ligoje |
| IFT43intraflagellar transport 43 | Kartais (5–29%) | 2 ligose |
| IFT88intraflagellar transport 88 | Kartais (5–29%) | 1 ligoje |
| IL2RAinterleukin 2 receptor subunit alpha | Kartais (5–29%) | 1 ligoje |
| IL2RBinterleukin 2 receptor subunit beta | Kartais (5–29%) | 1 ligoje |
| IMPG1interphotoreceptor matrix proteoglycan 1 | Kartais (5–29%) | 1 ligoje |
| KIAA1549KIAA1549 | Kartais (5–29%) | 1 ligoje |
| KIF1Ckinesin family member 1C | Kartais (5–29%) | 2 ligose |
| LTBP2latent transforming growth factor beta binding protein 2 | Kartais (5–29%) | 1 ligoje |
| MED16mediator complex subunit 16 | Kartais (5–29%) | 1 ligoje |
| MERTKMER proto-oncogene, tyrosine kinase | Kartais (5–29%) | 1 ligoje |
| MYOCmyocilin | Kartais (5–29%) | 1 ligoje |
| NEK2NIMA related kinase 2 | Kartais (5–29%) | 1 ligoje |
| OFD1OFD1 centriole and centriolar satellite protein | Kartais (5–29%) | 1 ligoje |
| OPN1SWopsin 1, short wave sensitive | Kartais (5–29%) | 1 ligoje |
| OVOL2ovo like zinc finger 2 | Kartais (5–29%) | 1 ligoje |
| PCAREphotoreceptor cilium actin regulator | Kartais (5–29%) | 1 ligoje |
| PDE6Aphosphodiesterase 6A | Kartais (5–29%) | 1 ligoje |
| PDE6Bphosphodiesterase 6B | Kartais (5–29%) | 1 ligoje |
| PRCDphotoreceptor disc component | Kartais (5–29%) | 1 ligoje |
| PRIMPOLprimase and DNA directed polymerase | Kartais (5–29%) | 1 ligoje |
| PRPF3pre-mRNA processing factor 3 | Kartais (5–29%) | 1 ligoje |
| PRPF31pre-mRNA processing factor 31 | Kartais (5–29%) | 2 ligose |
| PRPF8pre-mRNA processing factor 8 | Kartais (5–29%) | 1 ligoje |
| PSAPprosaposin | Kartais (5–29%) | 3 ligose |
| PTPN2protein tyrosine phosphatase non-receptor type 2 | Kartais (5–29%) | 1 ligoje |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Kartais (5–29%) | 1 ligoje |
| RDH12retinol dehydrogenase 12 | Kartais (5–29%) | 2 ligose |
| RGRretinal G protein coupled receptor | Kartais (5–29%) | 1 ligoje |
| RNASEH1ribonuclease H1 | Kartais (5–29%) | 1 ligoje |
| RNU4-2RNA, U4 small nuclear 2 | Kartais (5–29%) | 1 ligoje |
| RNU6-1RNA, U6 small nuclear 1 | Kartais (5–29%) | 1 ligoje |
| RNU6-2RNA, U6 small nuclear 2 | Kartais (5–29%) | 1 ligoje |
| RNU6-8RNA, U6 small nuclear 8 | Kartais (5–29%) | 1 ligoje |
| RNU6-9RNA, U6 small nuclear 9 | Kartais (5–29%) | 1 ligoje |
| ROM1retinal outer segment membrane protein 1 | Kartais (5–29%) | 1 ligoje |
| RP2RP2 activator of ARL3 GTPase | Kartais (5–29%) | 1 ligoje |
| RP9RP9 pre-mRNA splicing factor | Kartais (5–29%) | 1 ligoje |
| SAXO6stabilizer of axonemal microtubules 6 | Kartais (5–29%) | 1 ligoje |
| SEMA4Asemaphorin 4A | Kartais (5–29%) | 2 ligose |
| SLC1A3solute carrier family 1 member 3 | Kartais (5–29%) | 1 ligoje |
| SNRNP200small nuclear ribonucleoprotein U5 subunit 200 | Kartais (5–29%) | 1 ligoje |
| SPOUT1SPOUT domain containing methyltransferase 1 | Kartais (5–29%) | 1 ligoje |
| STAT4signal transducer and activator of transcription 4 | Kartais (5–29%) | 1 ligoje |
| TEFMtranscription elongation factor, mitochondrial | Kartais (5–29%) | 1 ligoje |
| TEKTEK receptor tyrosine kinase | Kartais (5–29%) | 1 ligoje |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Kartais (5–29%) | 1 ligoje |
| WASF1WASP family member 1 | Kartais (5–29%) | 1 ligoje |
| XYLT1xylosyltransferase 1 | Kartais (5–29%) | 1 ligoje |
| XYLT2xylosyltransferase 2 | Kartais (5–29%) | 1 ligoje |
| ZNF513zinc finger protein 513 | Kartais (5–29%) | 1 ligoje |
| COL4A1collagen type IV alpha 1 chain | Retai (1–4 %) | 1 ligoje |
| AIPL1AIP like 1 HSP90 co-chaperone | Neužfiksuota | 1 ligoje |
| CACNA2D4calcium voltage-gated channel auxiliary subunit alpha2delta 4 | Neužfiksuota | 1 ligoje |
| CLCC1chloride channel CLIC like 1 | Neužfiksuota | 1 ligoje |
| CRYBB1crystallin beta B1 | Neužfiksuota | 1 ligoje |
| CTNScystinosin, lysosomal cystine transporter | Neužfiksuota | 1 ligoje |
| DRAM2DNA damage regulated autophagy modulator 2 | Neužfiksuota | 1 ligoje |
| EFEMP1EGF-like fibulin extracellular matrix protein 1 | Neužfiksuota | 1 ligoje |
| ELOVL1ELOVL fatty acid elongase 1 | Neužfiksuota | 1 ligoje |
| FBN2fibrillin 2 | Neužfiksuota | 1 ligoje |
| FRMD7FERM domain containing 7 | Neužfiksuota | 1 ligoje |
| HK1hexokinase 1 | Neužfiksuota | 1 ligoje |
| INPP5Einositol polyphosphate-5-phosphatase E | Neužfiksuota | 1 ligoje |
| KCNV2potassium voltage-gated channel modifier subfamily V member 2 | Neužfiksuota | 1 ligoje |
| KIF11kinesin family member 11 | Neužfiksuota | 1 ligoje |
| KRT12keratin 12 | Neužfiksuota | 1 ligoje |
| LRP6LDL receptor related protein 6 | Neužfiksuota | 1 ligoje |
| LRPAP1LDL receptor related protein associated protein 1 | Neužfiksuota | 1 ligoje |
| MAPKAPK3MAPK activated protein kinase 3 | Neužfiksuota | 1 ligoje |
| MIR184microRNA 184 | Neužfiksuota | 1 ligoje |
| MIR204microRNA 204 | Neužfiksuota | 1 ligoje |
| MMACHCmetabolism of cobalamin associated C | Neužfiksuota | 1 ligoje |
| MMP19matrix metallopeptidase 19 | Neužfiksuota | 1 ligoje |
| NBASNBAS subunit of NRZ tethering complex | Neužfiksuota | 1 ligoje |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Neužfiksuota | 1 ligoje |
| OPA1OPA1 mitochondrial dynamin like GTPase | Neužfiksuota | 2 ligose |
| OPN1LWopsin 1, long wave sensitive | Neužfiksuota | 1 ligoje |
| OPN1MWopsin 1, medium wave sensitive | Neužfiksuota | 1 ligoje |
| PITPNM3PITPNM family member 3 | Neužfiksuota | 1 ligoje |
| POMKprotein O-mannose kinase | Neužfiksuota | 1 ligoje |
| PORCNporcupine O-acyltransferase | Neužfiksuota | 1 ligoje |
| PRDX1peroxiredoxin 1 | Neužfiksuota | 1 ligoje |
| RCBTB1RCC1 and BTB domain containing protein 1 | Neužfiksuota | 1 ligoje |
| RHOAras homolog family member A | Neužfiksuota | 1 ligoje |
| SCYL1SCY1 like pseudokinase 1 | Neužfiksuota | 1 ligoje |
| SH3BP2SH3 domain binding protein 2 | Neužfiksuota | 1 ligoje |
| SLC39A14solute carrier family 39 member 14 | Neužfiksuota | 1 ligoje |
| SSBP1single stranded DNA binding protein 1 | Neužfiksuota | 1 ligoje |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Neužfiksuota | 1 ligoje |
| TMEM126Atransmembrane protein 126A | Neužfiksuota | 1 ligoje |
| TUBGCP4tubulin gamma complex component 4 | Neužfiksuota | 1 ligoje |
| TYRtyrosinase | Neužfiksuota | 1 ligoje |
| UBIAD1UbiA prenyltransferase domain containing 1 | Neužfiksuota | 1 ligoje |
| VPS11VPS11 core subunit of CORVET and HOPS complexes | Neužfiksuota | 1 ligoje |
| VPS13Bvacuolar protein sorting 13 homolog B | Neužfiksuota | 1 ligoje |
| WDR19WD repeat domain 19 | Neužfiksuota | 1 ligoje |
| ZFYVE26zinc finger FYVE-type containing 26 | 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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Iš kur tai žinoma
- 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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