AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Požymis
Optic disc pallor
A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.
Santrauka
- Taip pat vadinama
- Pale optic disc
- Kūno sistema
- Abnormality of the eye
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Ši puslapis kaip duomenys
Norėdami perskaityti jį kaip JSON, pridėkite .json prie puslapio adreso arba nurodykite application/json.
library(jsonlite)
url <- "https://dantelabs.com/traits/optic-disc-pallor.json"
page <- fromJSON(url)
page$trait$nameOptic disc pallorHP:0000543
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Vienu tyrimu sužinokite genus, susijusius su Optic disc pallor, ir kitą jūsų genomo dalį.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites
Įsigyti savo Genome Test271 genas susijęs su Optic disc pallor
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Optic disc pallor. 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 |
|---|---|---|
| ACER3alkaline ceramidase 3 | Visada | 1 ligoje |
| ACO2aconitase 2 | Visada | 1 ligoje |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Visada | 1 ligoje |
| ARL13BARF like GTPase 13B | Visada | 1 ligoje |
| BBS5Bardet-Biedl syndrome 5 | Visada | 1 ligoje |
| BORCS8BLOC-1 related complex subunit 8 | Visada | 1 ligoje |
| CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin | Visada | 1 ligoje |
| CNGA1cyclic nucleotide gated channel subunit alpha 1 | Visada | 2 ligose |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Visada | 2 ligose |
| DNM1Ldynamin 1L | Visada | 2 ligose |
| FDXRferredoxin reductase | Visada | 1 ligoje |
| GNAT1G protein subunit alpha transducin 1 | Visada | 1 ligoje |
| HARS1histidyl-tRNA synthetase 1 | Visada | 1 ligoje |
| IDH3Bisocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | Visada | 2 ligose |
| IDH3Gisocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma | Visada | 1 ligoje |
| IFT172intraflagellar transport 172 | Visada | 2 ligose |
| IFT43intraflagellar transport 43 | Visada | 2 ligose |
| IMPDH1inosine monophosphate dehydrogenase 1 | Visada | 3 ligose |
| ITM2Bintegral membrane protein 2B | Visada | 1 ligoje |
| KIF5Akinesin family member 5A | Visada | 1 ligoje |
| KLC4kinesin light chain 4 | Visada | 1 ligoje |
| MCATmalonyl-CoA-acyl carrier protein transacylase | Visada | 1 ligoje |
| MFRPmembrane frizzled-related protein | Visada | 1 ligoje |
| MIEF1mitochondrial elongation factor 1 | Visada | 1 ligoje |
| NDUFA13NADH:ubiquinone oxidoreductase subunit A13 | Visada | 1 ligoje |
| NDUFAF3NADH:ubiquinone oxidoreductase complex assembly factor 3 | Visada | 2 ligose |
| NDUFS3NADH:ubiquinone oxidoreductase core subunit S3 | Visada | 2 ligose |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Visada | 1 ligoje |
| OTX2orthodenticle homeobox 2 | Visada | 3 ligose |
| PDE6Aphosphodiesterase 6A | Visada | 2 ligose |
| PDXKpyridoxal kinase | Visada | 1 ligoje |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Visada | 1 ligoje |
| PROM1prominin 1 | Visada | 3 ligose |
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Visada | 1 ligoje |
| RIMS2regulating synaptic membrane exocytosis 2 | Visada | 1 ligoje |
| RP1RP1 axonemal microtubule associated | Visada | 2 ligose |
| RP1L1RP1 like 1 | Visada | 2 ligose |
| RTN4IP1reticulon 4 interacting protein 1 | Visada | 1 ligoje |
| SCAPERS-phase cyclin A associated protein in the ER | Visada | 2 ligose |
| SDHDsuccinate dehydrogenase complex subunit D | Visada | 1 ligoje |
Rodyti dar 231 geną
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| TBC1D32TBC1 domain family member 32 | Visada | 1 ligoje |
| TOR1Atorsin family 1 member A | Visada | 1 ligoje |
| UBAP1Lubiquitin associated protein 1 like | Visada | 2 ligose |
| USP45ubiquitin specific peptidase 45 | Visada | 2 ligose |
| VPS41VPS41 subunit of HOPS complex | Visada | 1 ligoje |
| ZNF408zinc finger protein 408 | Visada | 2 ligose |
| ZNF513zinc finger protein 513 | Visada | 2 ligose |
| CLCN7Cl-/H+ antiporter 7 | Labai dažnai (80–99%) | 1 ligoje |
| CRB1crumbs cell polarity complex component 1 | Labai dažnai (80–99%) | 3 ligose |
| ESPNespin | Labai dažnai (80–99%) | 1 ligoje |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Labai dažnai (80–99%) | 1 ligoje |
| IMPG2interphotoreceptor matrix proteoglycan 2 | Labai dažnai (80–99%) | 2 ligose |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Labai dažnai (80–99%) | 1 ligoje |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Labai dažnai (80–99%) | 1 ligoje |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFA11NADH:ubiquinone oxidoreductase subunit A11 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFAF1NADH:ubiquinone oxidoreductase complex assembly factor 1 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFAF8NADH:ubiquinone oxidoreductase complex assembly factor 8 | Labai dažnai (80–99%) | 2 ligose |
| NDUFB10NADH:ubiquinone oxidoreductase subunit B10 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFB3NADH:ubiquinone oxidoreductase subunit B3 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFB9NADH:ubiquinone oxidoreductase subunit B9 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Labai dažnai (80–99%) | 2 ligose |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Labai dažnai (80–99%) | 2 ligose |
| NDUFS6NADH:ubiquinone oxidoreductase subunit S6 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFS7NADH:ubiquinone oxidoreductase core subunit S7 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFS8NADH:ubiquinone oxidoreductase core subunit S8 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFV1NADH:ubiquinone oxidoreductase core subunit V1 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFV2NADH:ubiquinone oxidoreductase core subunit V2 | Labai dažnai (80–99%) | 1 ligoje |
| NR2F1nuclear receptor subfamily 2 group F member 1 | Labai dažnai (80–99%) | 1 ligoje |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Labai dažnai (80–99%) | 1 ligoje |
| PRPF4pre-mRNA splicing tri-snRNP complex factor PRPF4 | Labai dažnai (80–99%) | 2 ligose |
| RAX2retina and anterior neural fold homeobox 2 | Labai dažnai (80–99%) | 2 ligose |
| TIMMDC1translocase of inner mitochondrial membrane domain containing 1 | Labai dažnai (80–99%) | 1 ligoje |
| TMEM126Btransmembrane protein 126B | Labai dažnai (80–99%) | 1 ligoje |
| ABCA4ATP binding cassette subfamily A member 4 | Dažnai (30–79%) | 4 ligose |
| ADAM9ADAM metallopeptidase domain 9 | Dažnai (30–79%) | 1 ligoje |
| AGBL5AGBL carboxypeptidase 5 | Dažnai (30–79%) | 1 ligoje |
| AHI1Abelson helper integration site 1 | Dažnai (30–79%) | 1 ligoje |
| AHRaryl hydrocarbon receptor | Dažnai (30–79%) | 1 ligoje |
| AIPL1AIP like 1 HSP90 co-chaperone | Dažnai (30–79%) | 3 ligose |
| ALMS1ALMS1 centrosome and basal body associated protein | Dažnai (30–79%) | 3 ligose |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Dažnai (30–79%) | 1 ligoje |
| ARHGEF18Rho/Rac guanine nucleotide exchange factor 18 | Dažnai (30–79%) | 2 ligose |
| ARHGEF2Rho/Rac guanine nucleotide exchange factor 2 | Dažnai (30–79%) | 1 ligoje |
| ARL2BPARF like GTPase 2 binding protein | Dažnai (30–79%) | 2 ligose |
| ARL3ARF like GTPase 3 | Dažnai (30–79%) | 1 ligoje |
| ARL6ARF like GTPase 6 | Dažnai (30–79%) | 1 ligoje |
| ATF6activating transcription factor 6 | Dažnai (30–79%) | 1 ligoje |
| BBS1Bardet-Biedl syndrome 1 | Dažnai (30–79%) | 1 ligoje |
| BBS2Bardet-Biedl syndrome 2 | Dažnai (30–79%) | 2 ligose |
| BEST1bestrophin 1 | Dažnai (30–79%) | 2 ligose |
| CA4carbonic anhydrase 4 | Dažnai (30–79%) | 1 ligoje |
| CABP4calcium binding protein 4 | Dažnai (30–79%) | 2 ligose |
| CACNA1Fcalcium voltage-gated channel subunit alpha1 F | Dažnai (30–79%) | 2 ligose |
| CACNA2D4calcium voltage-gated channel auxiliary subunit alpha2delta 4 | Dažnai (30–79%) | 1 ligoje |
| CASKcalcium/calmodulin dependent serine protein kinase | Dažnai (30–79%) | 2 ligose |
| CC2D2Acoiled-coil and C2 domain containing 2A | Dažnai (30–79%) | 1 ligoje |
| CDHR1cadherin related family member 1 | Dažnai (30–79%) | 2 ligose |
| CERKLCERK like autophagy regulator | Dažnai (30–79%) | 2 ligose |
| CFAP20cilia and flagella associated protein 20 | 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 |
| CLDN11claudin 11 | Dažnai (30–79%) | 1 ligoje |
| CLN8CLN8 transmembrane ER and ERGIC protein | Dažnai (30–79%) | 1 ligoje |
| CLRN1clarin 1 | Dažnai (30–79%) | 1 ligoje |
| CNGA3cyclic nucleotide gated channel subunit alpha 3 | Dažnai (30–79%) | 1 ligoje |
| CNGB1cyclic nucleotide gated channel subunit beta 1 | Dažnai (30–79%) | 1 ligoje |
| CNNM4cyclin and CBS domain divalent metal cation transport mediator 4 | Dažnai (30–79%) | 1 ligoje |
| COL18A1collagen type XVIII alpha 1 chain | Dažnai (30–79%) | 1 ligoje |
| COQ8Bcoenzyme Q8B | Dažnai (30–79%) | 1 ligoje |
| CRXcone-rod homeobox | Dažnai (30–79%) | 3 ligose |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Dažnai (30–79%) | 2 ligose |
| DARS1aspartyl-tRNA synthetase 1 | Dažnai (30–79%) | 1 ligoje |
| DHX38DEAH-box helicase 38 | Dažnai (30–79%) | 1 ligoje |
| DRAM2DNA damage regulated autophagy modulator 2 | Dažnai (30–79%) | 1 ligoje |
| ELOVL1ELOVL fatty acid elongase 1 | Dažnai (30–79%) | 1 ligoje |
| EXOC8exocyst complex component 8 | Dažnai (30–79%) | 1 ligoje |
| EYSEGF-like photoreceptor maintenance factor | Dažnai (30–79%) | 2 ligose |
| FAM161AFAM161 centrosomal protein A | Dažnai (30–79%) | 2 ligose |
| FANCIFA complementation group I | Dažnai (30–79%) | 1 ligoje |
| FGF12fibroblast growth factor 12 | Dažnai (30–79%) | 1 ligoje |
| FLRT1fibronectin leucine rich transmembrane protein 1 | Dažnai (30–79%) | 1 ligoje |
| FSCN2fascin actin-bundling protein 2, retinal | Dažnai (30–79%) | 1 ligoje |
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Dažnai (30–79%) | 3 ligose |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Dažnai (30–79%) | 1 ligoje |
| GRID2glutamate ionotropic receptor delta type subunit 2 | Dažnai (30–79%) | 1 ligoje |
| GUCA1Aguanylate cyclase activator 1A | Dažnai (30–79%) | 1 ligoje |
| GUCA1Bguanylate cyclase activator 1B | Dažnai (30–79%) | 1 ligoje |
| GUCY2Dguanylate cyclase 2D, retinal | Dažnai (30–79%) | 2 ligose |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Dažnai (30–79%) | 2 ligose |
| HKDC1hexokinase domain containing 1 | Dažnai (30–79%) | 1 ligoje |
| HLA-Amajor histocompatibility complex, class I, A | Dažnai (30–79%) | 1 ligoje |
| HRASHRas proto-oncogene, GTPase | Dažnai (30–79%) | 1 ligoje |
| IDH3Aisocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha | Dažnai (30–79%) | 1 ligoje |
| IFT140intraflagellar transport 140 | Dažnai (30–79%) | 2 ligose |
| IFT88intraflagellar transport 88 | Dažnai (30–79%) | 1 ligoje |
| IMPG1interphotoreceptor matrix proteoglycan 1 | Dažnai (30–79%) | 1 ligoje |
| KCNJ13potassium inwardly rectifying channel subfamily J member 13 | Dažnai (30–79%) | 3 ligose |
| KIAA1549KIAA1549 | Dažnai (30–79%) | 2 ligose |
| KIZkizuna centrosomal protein | Dažnai (30–79%) | 1 ligoje |
| KLC2kinesin light chain 2 | Dažnai (30–79%) | 2 ligose |
| KLHL7kelch like family member 7 | Dažnai (30–79%) | 1 ligoje |
| LCA5lebercilin LCA5 | Dažnai (30–79%) | 2 ligose |
| LRATlecithin retinol acyltransferase | Dažnai (30–79%) | 4 ligose |
| LYRM7LYR motif containing 7 | Dažnai (30–79%) | 1 ligoje |
| MAKmale germ cell associated kinase | Dažnai (30–79%) | 2 ligose |
| MAPKAPK5MAPK activated protein kinase 5 | Dažnai (30–79%) | 1 ligoje |
| MERTKMER proto-oncogene, tyrosine kinase | Dažnai (30–79%) | 2 ligose |
| MFFmitochondrial fission factor | Dažnai (30–79%) | 2 ligose |
| MFSD8major facilitator superfamily domain containing 8 | Dažnai (30–79%) | 2 ligose |
| MKS1MKS transition zone complex subunit 1 | Dažnai (30–79%) | 1 ligoje |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Dažnai (30–79%) | 1 ligoje |
| MTFMTmitochondrial methionyl-tRNA formyltransferase | Dažnai (30–79%) | 1 ligoje |
| MVKmevalonate kinase | Dažnai (30–79%) | 2 ligose |
| NDUFC2NADH:ubiquinone oxidoreductase subunit C2 | Dažnai (30–79%) | 1 ligoje |
| NEK2NIMA related kinase 2 | Dažnai (30–79%) | 1 ligoje |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Dažnai (30–79%) | 4 ligose |
| NR2E3nuclear receptor subfamily 2 group E member 3 | Dažnai (30–79%) | 1 ligoje |
| NRLneural retina leucine zipper | Dažnai (30–79%) | 1 ligoje |
| OFD1OFD1 centriole and centriolar satellite protein | Dažnai (30–79%) | 1 ligoje |
| OPA1OPA1 mitochondrial dynamin like GTPase | Dažnai (30–79%) | 1 ligoje |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Dažnai (30–79%) | 1 ligoje |
| OPN1LWopsin 1, long wave sensitive | Dažnai (30–79%) | 1 ligoje |
| OPN1MWopsin 1, medium wave sensitive | Dažnai (30–79%) | 1 ligoje |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Dažnai (30–79%) | 1 ligoje |
| PANK2pantothenate kinase 2 | Dažnai (30–79%) | 1 ligoje |
| PCAREphotoreceptor cilium actin regulator | Dažnai (30–79%) | 1 ligoje |
| PDE6Bphosphodiesterase 6B | Dažnai (30–79%) | 1 ligoje |
| PDE6Gphosphodiesterase 6G | Dažnai (30–79%) | 2 ligose |
| PITPNM3PITPNM family member 3 | Dažnai (30–79%) | 1 ligoje |
| POC1BPOC1 centriolar protein B | Dažnai (30–79%) | 2 ligose |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Dažnai (30–79%) | 1 ligoje |
| PRCDphotoreceptor disc component | Dažnai (30–79%) | 2 ligose |
| PRPF3pre-mRNA processing factor 3 | Dažnai (30–79%) | 1 ligoje |
| PRPF31pre-mRNA processing factor 31 | Dažnai (30–79%) | 2 ligose |
| PRPF6pre-mRNA processing factor 6 | Dažnai (30–79%) | 2 ligose |
| PRPF8pre-mRNA processing factor 8 | Dažnai (30–79%) | 1 ligoje |
| PRPH2peripherin 2 | Dažnai (30–79%) | 4 ligose |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Dažnai (30–79%) | 1 ligoje |
| RAB28RAB28, member RAS oncogene family | Dažnai (30–79%) | 1 ligoje |
| RBP3retinol binding protein 3 | Dažnai (30–79%) | 2 ligose |
| RDH12retinol dehydrogenase 12 | Dažnai (30–79%) | 3 ligose |
| REEP6receptor accessory protein 6 | Dažnai (30–79%) | 1 ligoje |
| RGRretinal G protein coupled receptor | Dažnai (30–79%) | 1 ligoje |
| RHOrhodopsin | Dažnai (30–79%) | 1 ligoje |
| RIMS1regulating synaptic membrane exocytosis 1 | Dažnai (30–79%) | 1 ligoje |
| RLBP1retinaldehyde binding protein 1 | Dažnai (30–79%) | 1 ligoje |
| RNU4-2RNA, U4 small nuclear 2 | Dažnai (30–79%) | 1 ligoje |
| RNU6-1RNA, U6 small nuclear 1 | Dažnai (30–79%) | 1 ligoje |
| RNU6-2RNA, U6 small nuclear 2 | Dažnai (30–79%) | 1 ligoje |
| RNU6-8RNA, U6 small nuclear 8 | Dažnai (30–79%) | 1 ligoje |
| RNU6-9RNA, U6 small nuclear 9 | Dažnai (30–79%) | 1 ligoje |
| ROM1retinal outer segment membrane protein 1 | Dažnai (30–79%) | 1 ligoje |
| RP2RP2 activator of ARL3 GTPase | Dažnai (30–79%) | 1 ligoje |
| RP9RP9 pre-mRNA splicing factor | Dažnai (30–79%) | 1 ligoje |
| RPE65retinoid isomerohydrolase RPE65 | Dažnai (30–79%) | 4 ligose |
| RPGRretinitis pigmentosa GTPase regulator | Dažnai (30–79%) | 2 ligose |
| RPGRIP1RPGR interacting protein 1 | Dažnai (30–79%) | 4 ligose |
| SAGS-antigen visual arrestin | Dažnai (30–79%) | 1 ligoje |
| SAXO6stabilizer of axonemal microtubules 6 | Dažnai (30–79%) | 1 ligoje |
| SEMA4Asemaphorin 4A | Dažnai (30–79%) | 2 ligose |
| SLC7A14solute carrier family 7 member 14 | Dažnai (30–79%) | 1 ligoje |
| SNRNP200small nuclear ribonucleoprotein U5 subunit 200 | Dažnai (30–79%) | 2 ligose |
| SPATA7spermatogenesis associated 7 | Dažnai (30–79%) | 3 ligose |
| STX3syntaxin 3 | Dažnai (30–79%) | 1 ligoje |
| TLCD3BTLC domain containing 3B | Dažnai (30–79%) | 1 ligoje |
| TMEM216transmembrane protein 216 | Dažnai (30–79%) | 1 ligoje |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Dažnai (30–79%) | 1 ligoje |
| TRNT1tRNA nucleotidyl transferase 1 | Dažnai (30–79%) | 1 ligoje |
| TTC8tetratricopeptide repeat domain 8 | Dažnai (30–79%) | 1 ligoje |
| TTLL5tubulin tyrosine ligase like 5 | Dažnai (30–79%) | 1 ligoje |
| TUBTUB bipartite transcription factor | Dažnai (30–79%) | 1 ligoje |
| TULP1TUB like protein 1 | Dažnai (30–79%) | 4 ligose |
| UNC119unc-119 lipid binding chaperone | Dažnai (30–79%) | 1 ligoje |
| USH2Ausherin | Dažnai (30–79%) | 1 ligoje |
| VSX1visual system homeobox 1 | Dažnai (30–79%) | 1 ligoje |
| WFS1wolframin ER transmembrane glycoprotein | Dažnai (30–79%) | 1 ligoje |
| AP4M1adaptor related protein complex 4 subunit mu 1 | Kartais (5–29%) | 1 ligoje |
| CEP290centrosomal protein 290 | Kartais (5–29%) | 1 ligoje |
| COX7Bcytochrome c oxidase subunit 7B | Kartais (5–29%) | 1 ligoje |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Kartais (5–29%) | 1 ligoje |
| GDF6growth differentiation factor 6 | Kartais (5–29%) | 1 ligoje |
| HNRNPH1heterogeneous nuclear ribonucleoprotein H1 | Kartais (5–29%) | 1 ligoje |
| INPP5Einositol polyphosphate-5-phosphatase E | Kartais (5–29%) | 1 ligoje |
| IQCB1IQ motif containing B1 | Kartais (5–29%) | 1 ligoje |
| JAM3junctional adhesion molecule 3 | Kartais (5–29%) | 1 ligoje |
| KCNC3potassium voltage-gated channel subfamily C member 3 | Kartais (5–29%) | 1 ligoje |
| MAN2B1mannosidase alpha class 2B member 1 | Kartais (5–29%) | 2 ligose |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Kartais (5–29%) | 1 ligoje |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Kartais (5–29%) | 1 ligoje |
| NFIXnuclear factor I X | Kartais (5–29%) | 1 ligoje |
| PCLOpiccolo presynaptic cytomatrix protein | Kartais (5–29%) | 1 ligoje |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Kartais (5–29%) | 1 ligoje |
| PLK4polo like kinase 4 | Kartais (5–29%) | 1 ligoje |
| PRORPprotein only RNase P catalytic subunit | Kartais (5–29%) | 1 ligoje |
| RD3RD3 regulator of GUCY2D | Kartais (5–29%) | 1 ligoje |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Kartais (5–29%) | 1 ligoje |
| RTTNrotatin | Kartais (5–29%) | 1 ligoje |
| SMG8SMG8 nonsense mediated mRNA decay factor | Kartais (5–29%) | 1 ligoje |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Kartais (5–29%) | 1 ligoje |
| SPOUT1SPOUT domain containing methyltransferase 1 | Kartais (5–29%) | 1 ligoje |
| TASP1taspase 1 | Kartais (5–29%) | 1 ligoje |
| TMEM106Btransmembrane protein 106B | Kartais (5–29%) | 1 ligoje |
| TMEM67transmembrane protein 67 | Kartais (5–29%) | 1 ligoje |
| TPI1triosephosphate isomerase 1 | Kartais (5–29%) | 1 ligoje |
| TUBB4Btubulin beta 4B class IVb | Kartais (5–29%) | 1 ligoje |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Retai (1–4 %) | 1 ligoje |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Retai (1–4 %) | 1 ligoje |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Retai (1–4 %) | 1 ligoje |
| NGLY1N-glycanase 1 | Retai (1–4 %) | 1 ligoje |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Neužfiksuota | 1 ligoje |
| ATXN1ataxin 1 | Neužfiksuota | 1 ligoje |
| BLOC1S3biogenesis of lysosomal organelles complex 1 subunit 3 | Neužfiksuota | 1 ligoje |
| CLCC1chloride channel CLIC like 1 | Neužfiksuota | 1 ligoje |
| HK1hexokinase 1 | Neužfiksuota | 1 ligoje |
| MFN2mitofusin 2 | Neužfiksuota | 2 ligose |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Neužfiksuota | 1 ligoje |
| PEX1peroxisomal biogenesis factor 1 | Neužfiksuota | 1 ligoje |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Neužfiksuota | 1 ligoje |
| PISDphosphatidylserine decarboxylase | Neužfiksuota | 1 ligoje |
| TMEM126Atransmembrane protein 126A | Neužfiksuota | 1 ligoje |
| TUBGCP6tubulin gamma complex component 6 | Neužfiksuota | 1 ligoje |
| UBE3Bubiquitin protein ligase E3B | 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 2026.10.17-8666dff2.
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