Tunnus
Abnormal full-field electroretinogram
An anomaly observed by full-field electroretinogram (ffERG). The ffERG measures the light-induced electrical activity of the retina at the corneal surface. Specifically, the ffERG records the global or total retinal electrical response to a full-field (Ganzfield) light stimulus. Isolation of the rod and cone components has important diagnostic value in differentiating between various retinal diseases. Modifying the properties of the light-stimulus (wavelength, strength, and flicker rate) as well as the adaptive state of the retina can separate the rod and cone functions of the ffERG.
Kokkuvõte
- Kehasüsteem
- Abnormality of the eye
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Abnormal full-field electroretinogram, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test137 geeni on seotud tunnusega Abnormal full-field electroretinogram
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Abnormal full-field electroretinogram. Enamikul selle tunnusega inimestest ei ole ühtegi neist haigustest. Selles loendis olev geen ei ütle midagi kellegi enda genoomi kohta.
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| ABCA4ATP binding cassette subfamily A member 4 | Sageli (30–79%) | Esineb 2 haiguses |
| ADAM9ADAM metallopeptidase domain 9 | Sageli (30–79%) | Esineb 1 haiguses |
| AGBL5AGBL carboxypeptidase 5 | Sageli (30–79%) | Esineb 1 haiguses |
| AHI1Abelson helper integration site 1 | Sageli (30–79%) | Esineb 1 haiguses |
| AHRaryl hydrocarbon receptor | Sageli (30–79%) | Esineb 1 haiguses |
| AIPL1AIP like 1 HSP90 co-chaperone | Sageli (30–79%) | Esineb 2 haiguses |
| ALMS1ALMS1 centrosome and basal body associated protein | Sageli (30–79%) | Esineb 1 haiguses |
| ARHGEF18Rho/Rac guanine nucleotide exchange factor 18 | Sageli (30–79%) | Esineb 1 haiguses |
| ARL2BPARF like GTPase 2 binding protein | Sageli (30–79%) | Esineb 1 haiguses |
| ARL3ARF like GTPase 3 | Sageli (30–79%) | Esineb 1 haiguses |
| ARL6ARF like GTPase 6 | Sageli (30–79%) | Esineb 1 haiguses |
| ATF6activating transcription factor 6 | Sageli (30–79%) | Esineb 1 haiguses |
| BBS1Bardet-Biedl syndrome 1 | Sageli (30–79%) | Esineb 1 haiguses |
| BBS2Bardet-Biedl syndrome 2 | Sageli (30–79%) | Esineb 1 haiguses |
| BEST1bestrophin 1 | Sageli (30–79%) | Esineb 1 haiguses |
| CA4carbonic anhydrase 4 | Sageli (30–79%) | Esineb 1 haiguses |
| CABP4calcium binding protein 4 | Sageli (30–79%) | Esineb 1 haiguses |
| CACNA1Fcalcium voltage-gated channel subunit alpha1 F | Sageli (30–79%) | Esineb 1 haiguses |
| CACNA2D4calcium voltage-gated channel auxiliary subunit alpha2delta 4 | Sageli (30–79%) | Esineb 1 haiguses |
| CC2D2Acoiled-coil and C2 domain containing 2A | Sageli (30–79%) | Esineb 1 haiguses |
| CDHR1cadherin related family member 1 | Sageli (30–79%) | Esineb 2 haiguses |
| CEP290centrosomal protein 290 | Sageli (30–79%) | Esineb 1 haiguses |
| CERKLCERK like autophagy regulator | Sageli (30–79%) | Esineb 1 haiguses |
| CFAP20cilia and flagella associated protein 20 | Sageli (30–79%) | Esineb 1 haiguses |
| CFAP410cilia and flagella associated protein 410 | Sageli (30–79%) | Esineb 1 haiguses |
| CFAP418cilia and flagella associated protein 418 | Sageli (30–79%) | Esineb 2 haiguses |
| CLRN1clarin 1 | Sageli (30–79%) | Esineb 1 haiguses |
| CNGA1cyclic nucleotide gated channel subunit alpha 1 | Sageli (30–79%) | Esineb 1 haiguses |
| CNGA3cyclic nucleotide gated channel subunit alpha 3 | Sageli (30–79%) | Esineb 1 haiguses |
| CNGB1cyclic nucleotide gated channel subunit beta 1 | Sageli (30–79%) | Esineb 1 haiguses |
| COQ8Bcoenzyme Q8B | Sageli (30–79%) | Esineb 1 haiguses |
| CRB1crumbs cell polarity complex component 1 | Sageli (30–79%) | Esineb 2 haiguses |
| CRXcone-rod homeobox | Sageli (30–79%) | Esineb 3 haiguses |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Sageli (30–79%) | Esineb 1 haiguses |
| DHX38DEAH-box helicase 38 | Sageli (30–79%) | Esineb 1 haiguses |
| DRAM2DNA damage regulated autophagy modulator 2 | Sageli (30–79%) | Esineb 1 haiguses |
| EYSEGF-like photoreceptor maintenance factor | Sageli (30–79%) | Esineb 1 haiguses |
| FAM161AFAM161 centrosomal protein A | Sageli (30–79%) | Esineb 1 haiguses |
| FOXC1forkhead box C1 | Sageli (30–79%) | Esineb 1 haiguses |
| FSCN2fascin actin-bundling protein 2, retinal | Sageli (30–79%) | Esineb 1 haiguses |
Näita veel 97 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Sageli (30–79%) | Esineb 2 haiguses |
| GDF6growth differentiation factor 6 | Sageli (30–79%) | Esineb 1 haiguses |
| GUCA1Aguanylate cyclase activator 1A | Sageli (30–79%) | Esineb 1 haiguses |
| GUCA1Bguanylate cyclase activator 1B | Sageli (30–79%) | Esineb 1 haiguses |
| GUCY2Dguanylate cyclase 2D, retinal | Sageli (30–79%) | Esineb 2 haiguses |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Sageli (30–79%) | Esineb 1 haiguses |
| HKDC1hexokinase domain containing 1 | Sageli (30–79%) | Esineb 1 haiguses |
| IDH3Aisocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha | Sageli (30–79%) | Esineb 1 haiguses |
| IDH3Bisocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | Sageli (30–79%) | Esineb 1 haiguses |
| IFT140intraflagellar transport 140 | Sageli (30–79%) | Esineb 2 haiguses |
| IFT172intraflagellar transport 172 | Sageli (30–79%) | Esineb 1 haiguses |
| IFT43intraflagellar transport 43 | Sageli (30–79%) | Esineb 1 haiguses |
| IFT88intraflagellar transport 88 | Sageli (30–79%) | Esineb 1 haiguses |
| IMPDH1inosine monophosphate dehydrogenase 1 | Sageli (30–79%) | Esineb 2 haiguses |
| IMPG1interphotoreceptor matrix proteoglycan 1 | Sageli (30–79%) | Esineb 1 haiguses |
| IMPG2interphotoreceptor matrix proteoglycan 2 | Sageli (30–79%) | Esineb 1 haiguses |
| IQCB1IQ motif containing B1 | Sageli (30–79%) | Esineb 1 haiguses |
| KCNJ13potassium inwardly rectifying channel subfamily J member 13 | Sageli (30–79%) | Esineb 1 haiguses |
| KIAA1549KIAA1549 | Sageli (30–79%) | Esineb 1 haiguses |
| KIZkizuna centrosomal protein | Sageli (30–79%) | Esineb 1 haiguses |
| KLHL7kelch like family member 7 | Sageli (30–79%) | Esineb 1 haiguses |
| LCA5lebercilin LCA5 | Sageli (30–79%) | Esineb 1 haiguses |
| LRATlecithin retinol acyltransferase | Sageli (30–79%) | Esineb 2 haiguses |
| MAKmale germ cell associated kinase | Sageli (30–79%) | Esineb 1 haiguses |
| MERTKMER proto-oncogene, tyrosine kinase | Sageli (30–79%) | Esineb 1 haiguses |
| MFSD8major facilitator superfamily domain containing 8 | Sageli (30–79%) | Esineb 1 haiguses |
| NEK2NIMA related kinase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Sageli (30–79%) | Esineb 2 haiguses |
| NR2E3nuclear receptor subfamily 2 group E member 3 | Sageli (30–79%) | Esineb 1 haiguses |
| NRLneural retina leucine zipper | Sageli (30–79%) | Esineb 1 haiguses |
| OFD1OFD1 centriole and centriolar satellite protein | Sageli (30–79%) | Esineb 1 haiguses |
| OPN1LWopsin 1, long wave sensitive | Sageli (30–79%) | Esineb 1 haiguses |
| OPN1MWopsin 1, medium wave sensitive | Sageli (30–79%) | Esineb 1 haiguses |
| OTX2orthodenticle homeobox 2 | Sageli (30–79%) | Esineb 1 haiguses |
| PAX6paired box 6 | Sageli (30–79%) | Esineb 1 haiguses |
| PCAREphotoreceptor cilium actin regulator | Sageli (30–79%) | Esineb 1 haiguses |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Sageli (30–79%) | Esineb 1 haiguses |
| PDE6Aphosphodiesterase 6A | Sageli (30–79%) | Esineb 1 haiguses |
| PDE6Bphosphodiesterase 6B | Sageli (30–79%) | Esineb 1 haiguses |
| PDE6Gphosphodiesterase 6G | Sageli (30–79%) | Esineb 1 haiguses |
| PITPNM3PITPNM family member 3 | Sageli (30–79%) | Esineb 1 haiguses |
| POC1BPOC1 centriolar protein B | Sageli (30–79%) | Esineb 1 haiguses |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Sageli (30–79%) | Esineb 1 haiguses |
| PRCDphotoreceptor disc component | Sageli (30–79%) | Esineb 1 haiguses |
| PROM1prominin 1 | Sageli (30–79%) | Esineb 2 haiguses |
| PRPF3pre-mRNA processing factor 3 | Sageli (30–79%) | Esineb 1 haiguses |
| PRPF31pre-mRNA processing factor 31 | Sageli (30–79%) | Esineb 1 haiguses |
| PRPF4pre-mRNA splicing tri-snRNP complex factor PRPF4 | Sageli (30–79%) | Esineb 1 haiguses |
| PRPF6pre-mRNA processing factor 6 | Sageli (30–79%) | Esineb 1 haiguses |
| PRPF8pre-mRNA processing factor 8 | Sageli (30–79%) | Esineb 1 haiguses |
| PRPH2peripherin 2 | Sageli (30–79%) | Esineb 3 haiguses |
| RAB28RAB28, member RAS oncogene family | Sageli (30–79%) | Esineb 1 haiguses |
| RAX2retina and anterior neural fold homeobox 2 | Sageli (30–79%) | Esineb 1 haiguses |
| RBP3retinol binding protein 3 | Sageli (30–79%) | Esineb 1 haiguses |
| RD3RD3 regulator of GUCY2D | Sageli (30–79%) | Esineb 1 haiguses |
| RDH12retinol dehydrogenase 12 | Sageli (30–79%) | Esineb 2 haiguses |
| REEP6receptor accessory protein 6 | Sageli (30–79%) | Esineb 1 haiguses |
| RGRretinal G protein coupled receptor | Sageli (30–79%) | Esineb 1 haiguses |
| RHOrhodopsin | Sageli (30–79%) | Esineb 1 haiguses |
| RIMS1regulating synaptic membrane exocytosis 1 | Sageli (30–79%) | Esineb 1 haiguses |
| RLBP1retinaldehyde binding protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| RNU4-2RNA, U4 small nuclear 2 | Sageli (30–79%) | Esineb 1 haiguses |
| RNU6-1RNA, U6 small nuclear 1 | Sageli (30–79%) | Esineb 1 haiguses |
| RNU6-2RNA, U6 small nuclear 2 | Sageli (30–79%) | Esineb 1 haiguses |
| RNU6-8RNA, U6 small nuclear 8 | Sageli (30–79%) | Esineb 1 haiguses |
| RNU6-9RNA, U6 small nuclear 9 | Sageli (30–79%) | Esineb 1 haiguses |
| ROM1retinal outer segment membrane protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| RP1RP1 axonemal microtubule associated | Sageli (30–79%) | Esineb 1 haiguses |
| RP1L1RP1 like 1 | Sageli (30–79%) | Esineb 1 haiguses |
| RP2RP2 activator of ARL3 GTPase | Sageli (30–79%) | Esineb 1 haiguses |
| RP9RP9 pre-mRNA splicing factor | Sageli (30–79%) | Esineb 1 haiguses |
| RPE65retinoid isomerohydrolase RPE65 | Sageli (30–79%) | Esineb 2 haiguses |
| RPGRretinitis pigmentosa GTPase regulator | Sageli (30–79%) | Esineb 2 haiguses |
| RPGRIP1RPGR interacting protein 1 | Sageli (30–79%) | Esineb 2 haiguses |
| SAGS-antigen visual arrestin | Sageli (30–79%) | Esineb 1 haiguses |
| SAXO6stabilizer of axonemal microtubules 6 | Sageli (30–79%) | Esineb 1 haiguses |
| SCAPERS-phase cyclin A associated protein in the ER | Sageli (30–79%) | Esineb 1 haiguses |
| SEMA4Asemaphorin 4A | Sageli (30–79%) | Esineb 2 haiguses |
| SLC7A14solute carrier family 7 member 14 | Sageli (30–79%) | Esineb 1 haiguses |
| SNRNP200small nuclear ribonucleoprotein U5 subunit 200 | Sageli (30–79%) | Esineb 1 haiguses |
| SPATA7spermatogenesis associated 7 | Sageli (30–79%) | Esineb 2 haiguses |
| TLCD3BTLC domain containing 3B | Sageli (30–79%) | Esineb 1 haiguses |
| TMEM216transmembrane protein 216 | Sageli (30–79%) | Esineb 1 haiguses |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Sageli (30–79%) | Esineb 1 haiguses |
| TRIM44TRIM family member 44 | Sageli (30–79%) | Esineb 1 haiguses |
| TTC8tetratricopeptide repeat domain 8 | Sageli (30–79%) | Esineb 1 haiguses |
| TTLL5tubulin tyrosine ligase like 5 | Sageli (30–79%) | Esineb 1 haiguses |
| TUBTUB bipartite transcription factor | Sageli (30–79%) | Esineb 1 haiguses |
| TUBB4Btubulin beta 4B class IVb | Sageli (30–79%) | Esineb 1 haiguses |
| TULP1TUB like protein 1 | Sageli (30–79%) | Esineb 2 haiguses |
| UBAP1Lubiquitin associated protein 1 like | Sageli (30–79%) | Esineb 1 haiguses |
| UNC119unc-119 lipid binding chaperone | Sageli (30–79%) | Esineb 1 haiguses |
| USH2Ausherin | Sageli (30–79%) | Esineb 1 haiguses |
| USP45ubiquitin specific peptidase 45 | Sageli (30–79%) | Esineb 1 haiguses |
| VCANversican | Sageli (30–79%) | Esineb 1 haiguses |
| ZNF408zinc finger protein 408 | Sageli (30–79%) | Esineb 1 haiguses |
| ZNF513zinc finger protein 513 | Sageli (30–79%) | Esineb 1 haiguses |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Kitsamad tunnused
Laiemad tunnused
Allikas
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: tunnus, selle nimetused, määratlus ja sellega seotud geenid. Lisateave leiab aadressilt hpo.jax.org.
- Andmeversioon 2026.10.16-c6eea6bf.
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast