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Požymis
Abnormal electroretinogram
Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography.
Santrauka
- Taip pat vadinama
- Abnormal electroretinography, Abnormal ERG, ERG abnormal
- 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/abnormal-electroretinogram.json"
page <- fromJSON(url)
page$trait$nameAbnormal electroretinogramHP:0000512
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Vienu tyrimu sužinokite genus, susijusius su Abnormal electroretinogram, ir kitą jūsų genomo dalį.
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Įsigyti savo Genome Test200 genų susiję su Abnormal electroretinogram
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Abnormal electroretinogram. 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 |
|---|---|---|
| CFAP20cilia and flagella associated protein 20 | Visada | 2 ligose |
| CNGB1cyclic nucleotide gated channel subunit beta 1 | Visada | 2 ligose |
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Visada | 2 ligose |
| GTPBP2GTP binding protein 2 | Visada | 1 ligoje |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Visada | 1 ligoje |
| MYO7Amyosin VIIA | Visada | 3 ligose |
| NRLneural retina leucine zipper | Visada | 2 ligose |
| RDH8retinol dehydrogenase 8 | Visada | 1 ligoje |
| RHOrhodopsin | Visada | 2 ligose |
| RPGRIP1RPGR interacting protein 1 | Visada | 3 ligose |
| TRPM1transient receptor potential cation channel subfamily M member 1 | Visada | 1 ligoje |
| UBAP1Lubiquitin associated protein 1 like | Visada | 1 ligoje |
| USH1CUSH1 protein network component harmonin | Visada | 2 ligose |
| ABCA4ATP binding cassette subfamily A member 4 | Labai dažnai (80–99%) | 2 ligose |
| ACOX1acyl-CoA oxidase 1 | Labai dažnai (80–99%) | 1 ligoje |
| ADGRV1adhesion G protein-coupled receptor V1 | Labai dažnai (80–99%) | 1 ligoje |
| AGBL5AGBL carboxypeptidase 5 | Labai dažnai (80–99%) | 1 ligoje |
| AHI1Abelson helper integration site 1 | Labai dažnai (80–99%) | 2 ligose |
| AHRaryl hydrocarbon receptor | Labai dažnai (80–99%) | 1 ligoje |
| 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 |
| ARSGarylsulfatase G | Labai dažnai (80–99%) | 1 ligoje |
| 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%) | 3 ligose |
| CA4carbonic anhydrase 4 | Labai dažnai (80–99%) | 1 ligoje |
| CACNA1Fcalcium voltage-gated channel subunit alpha1 F | Labai dažnai (80–99%) | 1 ligoje |
| CC2D2Acoiled-coil and C2 domain containing 2A | Labai dažnai (80–99%) | 1 ligoje |
| CDH23cadherin related 23 | Labai dažnai (80–99%) | 1 ligoje |
| CDHR1cadherin related family member 1 | Labai dažnai (80–99%) | 1 ligoje |
| CEP78centrosomal protein 78 | Labai dažnai (80–99%) | 1 ligoje |
| CERKLCERK like autophagy regulator | Labai dažnai (80–99%) | 1 ligoje |
| CFAP418cilia and flagella associated protein 418 | Labai dažnai (80–99%) | 2 ligose |
| CHMCHM Rab escort protein | Labai dažnai (80–99%) | 1 ligoje |
| CLRN1clarin 1 | Labai dažnai (80–99%) | 2 ligose |
| CNGA1cyclic nucleotide gated channel subunit alpha 1 | Labai dažnai (80–99%) | 1 ligoje |
| CNGB3cyclic nucleotide gated channel subunit beta 3 | Labai dažnai (80–99%) | 1 ligoje |
| COQ8Bcoenzyme Q8B | Labai dažnai (80–99%) | 1 ligoje |
Rodyti dar 160 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| CRB1crumbs cell polarity complex component 1 | Labai dažnai (80–99%) | 2 ligose |
| CRXcone-rod homeobox | Labai dažnai (80–99%) | 3 ligose |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Labai dažnai (80–99%) | 1 ligoje |
| DHX38DEAH-box helicase 38 | Labai dažnai (80–99%) | 1 ligoje |
| ESPNespin | 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 |
| FSCN2fascin actin-bundling protein 2, retinal | Labai dažnai (80–99%) | 1 ligoje |
| GNAT2G protein subunit alpha transducin 2 | Labai dažnai (80–99%) | 1 ligoje |
| GUCA1Aguanylate cyclase activator 1A | Labai dažnai (80–99%) | 1 ligoje |
| GUCA1Bguanylate cyclase activator 1B | Labai dažnai (80–99%) | 1 ligoje |
| HARS1histidyl-tRNA synthetase 1 | 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 |
| IFT140intraflagellar transport 140 | Labai dažnai (80–99%) | 2 ligose |
| 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%) | 2 ligose |
| 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%) | 2 ligose |
| MAKmale germ cell associated kinase | Labai dažnai (80–99%) | 1 ligoje |
| MERTKMER proto-oncogene, tyrosine kinase | Labai dažnai (80–99%) | 1 ligoje |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Labai dažnai (80–99%) | 1 ligoje |
| NEK2NIMA related kinase 2 | Labai dažnai (80–99%) | 1 ligoje |
| NR2E3nuclear receptor subfamily 2 group E member 3 | Labai dažnai (80–99%) | 1 ligoje |
| OFD1OFD1 centriole and centriolar satellite protein | Labai dažnai (80–99%) | 1 ligoje |
| PCAREphotoreceptor cilium actin regulator | Labai dažnai (80–99%) | 2 ligose |
| PCDH15protocadherin related 15 | Labai dažnai (80–99%) | 1 ligoje |
| PDE6Aphosphodiesterase 6A | Labai dažnai (80–99%) | 2 ligose |
| PDE6Bphosphodiesterase 6B | Labai dažnai (80–99%) | 1 ligoje |
| PDE6Cphosphodiesterase 6C | Labai dažnai (80–99%) | 1 ligoje |
| PDE6Gphosphodiesterase 6G | Labai dažnai (80–99%) | 1 ligoje |
| PDZD7PDZ domain containing 7 | Labai dažnai (80–99%) | 1 ligoje |
| PNPLA6patatin like domain 6, lysophospholipase | Labai dažnai (80–99%) | 1 ligoje |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Labai dažnai (80–99%) | 1 ligoje |
| 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%) | 1 ligoje |
| 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%) | 3 ligose |
| RBP3retinol binding protein 3 | Labai dažnai (80–99%) | 1 ligoje |
| RDH12retinol dehydrogenase 12 | Labai dažnai (80–99%) | 2 ligose |
| REEP6receptor accessory protein 6 | Labai dažnai (80–99%) | 1 ligoje |
| RGRretinal G protein coupled receptor | Labai dažnai (80–99%) | 1 ligoje |
| RLBP1retinaldehyde binding protein 1 | Labai dažnai (80–99%) | 2 ligose |
| RNF216ring finger protein 216 | Labai dažnai (80–99%) | 1 ligoje |
| RNU4-2RNA, U4 small nuclear 2 | Labai dažnai (80–99%) | 1 ligoje |
| 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%) | 2 ligose |
| 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 |
| RS1retinoschisin 1 | 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%) | 1 ligoje |
| 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%) | 2 ligose |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Labai dažnai (80–99%) | 1 ligoje |
| TMEM216transmembrane protein 216 | Labai dažnai (80–99%) | 1 ligoje |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Labai dažnai (80–99%) | 2 ligose |
| 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%) | 2 ligose |
| USH1GUSH1 protein network component sans | Labai dažnai (80–99%) | 1 ligoje |
| USH2Ausherin | Labai dažnai (80–99%) | 3 ligose |
| WHRNwhirlin | Labai dažnai (80–99%) | 1 ligoje |
| ZNF408zinc finger protein 408 | Labai dažnai (80–99%) | 1 ligoje |
| ZNF513zinc finger protein 513 | Labai dažnai (80–99%) | 1 ligoje |
| AIPL1AIP like 1 HSP90 co-chaperone | Dažnai (30–79%) | 1 ligoje |
| ALMS1ALMS1 centrosome and basal body associated protein | 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 |
| CABP4calcium binding protein 4 | Dažnai (30–79%) | 1 ligoje |
| CEP104centrosomal protein 104 | Dažnai (30–79%) | 1 ligoje |
| CEP19centrosomal protein 19 | Dažnai (30–79%) | 1 ligoje |
| CEP290centrosomal protein 290 | Dažnai (30–79%) | 2 ligose |
| COL25A1collagen type XXV alpha 1 chain | Dažnai (30–79%) | 1 ligoje |
| EMC1ER membrane protein complex subunit 1 | Dažnai (30–79%) | 1 ligoje |
| GDF6growth differentiation factor 6 | Dažnai (30–79%) | 1 ligoje |
| GNB5G protein subunit beta 5 | Dažnai (30–79%) | 2 ligose |
| GUCY2Dguanylate cyclase 2D, retinal | Dažnai (30–79%) | 1 ligoje |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Dažnai (30–79%) | 1 ligoje |
| IFT27intraflagellar transport 27 | Dažnai (30–79%) | 1 ligoje |
| IFT74intraflagellar transport 74 | Dažnai (30–79%) | 1 ligoje |
| IQCB1IQ motif containing B1 | Dažnai (30–79%) | 1 ligoje |
| KCNJ13potassium inwardly rectifying channel subfamily J member 13 | Dažnai (30–79%) | 1 ligoje |
| KIF21Akinesin family member 21A | Dažnai (30–79%) | 1 ligoje |
| LCA5lebercilin LCA5 | 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 |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Dažnai (30–79%) | 1 ligoje |
| NPHP1nephrocystin 1 | Dažnai (30–79%) | 1 ligoje |
| OTX2orthodenticle homeobox 2 | Dažnai (30–79%) | 1 ligoje |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Dažnai (30–79%) | 1 ligoje |
| PHOX2Apaired like homeobox 2A | Dažnai (30–79%) | 1 ligoje |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Dažnai (30–79%) | 2 ligose |
| POGZpogo transposable element derived with ZNF domain | Dažnai (30–79%) | 1 ligoje |
| RD3RD3 regulator of GUCY2D | Dažnai (30–79%) | 1 ligoje |
| SCLT1sodium channel and clathrin linker 1 | Dažnai (30–79%) | 1 ligoje |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Dažnai (30–79%) | 1 ligoje |
| TRIM32tripartite motif containing 32 | Dažnai (30–79%) | 1 ligoje |
| TUBA1Atubulin alpha 1a | Dažnai (30–79%) | 1 ligoje |
| TUBB2Btubulin beta 2B class IIb | Dažnai (30–79%) | 1 ligoje |
| TUBB3tubulin beta 3 class III | Dažnai (30–79%) | 1 ligoje |
| TUBB4Btubulin beta 4B class IVb | Dažnai (30–79%) | 1 ligoje |
| USP45ubiquitin specific peptidase 45 | Dažnai (30–79%) | 1 ligoje |
| WDPCPWD repeat containing planar cell polarity effector | Dažnai (30–79%) | 1 ligoje |
| WWOXWW domain containing oxidoreductase | Dažnai (30–79%) | 1 ligoje |
| AGKacylglycerol kinase | Kartais (5–29%) | 1 ligoje |
| CWC27CWC27 spliceosome associated cyclophilin | Kartais (5–29%) | 1 ligoje |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Kartais (5–29%) | 1 ligoje |
| MCOLN1mucolipin TRP cation channel 1 | Kartais (5–29%) | 1 ligoje |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Kartais (5–29%) | 1 ligoje |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Kartais (5–29%) | 1 ligoje |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Kartais (5–29%) | 1 ligoje |
| MT-CYBmitochondrially encoded cytochrome b | 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-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Kartais (5–29%) | 1 ligoje |
| MT-ND4Lmitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L | Kartais (5–29%) | 1 ligoje |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Kartais (5–29%) | 1 ligoje |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Kartais (5–29%) | 1 ligoje |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Kartais (5–29%) | 1 ligoje |
| OPN1LWopsin 1, long wave sensitive | Kartais (5–29%) | 1 ligoje |
| OPN1MWopsin 1, medium wave sensitive | Kartais (5–29%) | 1 ligoje |
| SLC25A4solute carrier family 25 member 4 | Kartais (5–29%) | 1 ligoje |
| TKFCtriokinase and FMN cyclase | Kartais (5–29%) | 1 ligoje |
| ZNF699zinc finger protein 699 | Kartais (5–29%) | 1 ligoje |
| CAPN5calpain 5 | Neužfiksuota | 1 ligoje |
| NOTCH3notch receptor 3 | Neužfiksuota | 1 ligoje |
| PEX1peroxisomal biogenesis factor 1 | Neužfiksuota | 1 ligoje |
| SSBP1single stranded DNA binding protein 1 | Neužfiksuota | 1 ligoje |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Neužfiksuota | 1 ligoje |
| TIMP3TIMP metallopeptidase inhibitor 3 | Neužfiksuota | 1 ligoje |
| VSX1visual system homeobox 1 | 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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PrisijungtiKlaustiSekvenuokite savo genomą↗
Vienas testas. Atsakymai visam gyvenimui.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites