Tunnus
Abnormal electroretinogram
Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography.
Kokkuvõte
- Teised nimetused
- Abnormal electroretinography, Abnormal ERG, ERG abnormal
- Kehasüsteem
- Abnormality of the eye
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Abnormal electroretinogram, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test200 geeni on seotud tunnusega Abnormal electroretinogram
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Abnormal 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 |
|---|---|---|
| CFAP20cilia and flagella associated protein 20 | Alati | Esineb 2 haiguses |
| CNGB1cyclic nucleotide gated channel subunit beta 1 | Alati | Esineb 2 haiguses |
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Alati | Esineb 2 haiguses |
| GTPBP2GTP binding protein 2 | Alati | Esineb 1 haiguses |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Alati | Esineb 1 haiguses |
| MYO7Amyosin VIIA | Alati | Esineb 3 haiguses |
| NRLneural retina leucine zipper | Alati | Esineb 2 haiguses |
| RDH8retinol dehydrogenase 8 | Alati | Esineb 1 haiguses |
| RHOrhodopsin | Alati | Esineb 2 haiguses |
| RPGRIP1RPGR interacting protein 1 | Alati | Esineb 3 haiguses |
| TRPM1transient receptor potential cation channel subfamily M member 1 | Alati | Esineb 1 haiguses |
| UBAP1Lubiquitin associated protein 1 like | Alati | Esineb 1 haiguses |
| USH1CUSH1 protein network component harmonin | Alati | Esineb 2 haiguses |
| ABCA4ATP binding cassette subfamily A member 4 | Väga sageli (80–99%) | Esineb 2 haiguses |
| ACOX1acyl-CoA oxidase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ADGRV1adhesion G protein-coupled receptor V1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| AGBL5AGBL carboxypeptidase 5 | Väga sageli (80–99%) | Esineb 1 haiguses |
| AHI1Abelson helper integration site 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| AHRaryl hydrocarbon receptor | Väga sageli (80–99%) | Esineb 1 haiguses |
| ARHGEF18Rho/Rac guanine nucleotide exchange factor 18 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ARL2BPARF like GTPase 2 binding protein | Väga sageli (80–99%) | Esineb 1 haiguses |
| ARL3ARF like GTPase 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ARL6ARF like GTPase 6 | Väga sageli (80–99%) | Esineb 2 haiguses |
| ARSGarylsulfatase G | Väga sageli (80–99%) | Esineb 1 haiguses |
| BBS1Bardet-Biedl syndrome 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| BBS2Bardet-Biedl syndrome 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| BEST1bestrophin 1 | Väga sageli (80–99%) | Esineb 3 haiguses |
| CA4carbonic anhydrase 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CACNA1Fcalcium voltage-gated channel subunit alpha1 F | Väga sageli (80–99%) | Esineb 1 haiguses |
| CC2D2Acoiled-coil and C2 domain containing 2A | Väga sageli (80–99%) | Esineb 1 haiguses |
| CDH23cadherin related 23 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CDHR1cadherin related family member 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CEP78centrosomal protein 78 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CERKLCERK like autophagy regulator | Väga sageli (80–99%) | Esineb 1 haiguses |
| CFAP418cilia and flagella associated protein 418 | Väga sageli (80–99%) | Esineb 2 haiguses |
| CHMCHM Rab escort protein | Väga sageli (80–99%) | Esineb 1 haiguses |
| CLRN1clarin 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| CNGA1cyclic nucleotide gated channel subunit alpha 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CNGB3cyclic nucleotide gated channel subunit beta 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| COQ8Bcoenzyme Q8B | Väga sageli (80–99%) | Esineb 1 haiguses |
Näita veel 160 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| CRB1crumbs cell polarity complex component 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| CRXcone-rod homeobox | Väga sageli (80–99%) | Esineb 3 haiguses |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Väga sageli (80–99%) | Esineb 1 haiguses |
| DHX38DEAH-box helicase 38 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ESPNespin | Väga sageli (80–99%) | Esineb 1 haiguses |
| EYSEGF-like photoreceptor maintenance factor | Väga sageli (80–99%) | Esineb 1 haiguses |
| FAM161AFAM161 centrosomal protein A | Väga sageli (80–99%) | Esineb 1 haiguses |
| FSCN2fascin actin-bundling protein 2, retinal | Väga sageli (80–99%) | Esineb 1 haiguses |
| GNAT2G protein subunit alpha transducin 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| GUCA1Aguanylate cyclase activator 1A | Väga sageli (80–99%) | Esineb 1 haiguses |
| GUCA1Bguanylate cyclase activator 1B | Väga sageli (80–99%) | Esineb 1 haiguses |
| HARS1histidyl-tRNA synthetase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Väga sageli (80–99%) | Esineb 1 haiguses |
| HKDC1hexokinase domain containing 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| IDH3Aisocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha | Väga sageli (80–99%) | Esineb 1 haiguses |
| IDH3Bisocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | Väga sageli (80–99%) | Esineb 1 haiguses |
| IFT140intraflagellar transport 140 | Väga sageli (80–99%) | Esineb 2 haiguses |
| IFT172intraflagellar transport 172 | Väga sageli (80–99%) | Esineb 2 haiguses |
| IFT43intraflagellar transport 43 | Väga sageli (80–99%) | Esineb 1 haiguses |
| IFT88intraflagellar transport 88 | Väga sageli (80–99%) | Esineb 1 haiguses |
| IMPDH1inosine monophosphate dehydrogenase 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| IMPG1interphotoreceptor matrix proteoglycan 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| IMPG2interphotoreceptor matrix proteoglycan 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| KIAA1549KIAA1549 | Väga sageli (80–99%) | Esineb 1 haiguses |
| KIZkizuna centrosomal protein | Väga sageli (80–99%) | Esineb 1 haiguses |
| KLHL7kelch like family member 7 | Väga sageli (80–99%) | Esineb 1 haiguses |
| LRATlecithin retinol acyltransferase | Väga sageli (80–99%) | Esineb 2 haiguses |
| MAKmale germ cell associated kinase | Väga sageli (80–99%) | Esineb 1 haiguses |
| MERTKMER proto-oncogene, tyrosine kinase | Väga sageli (80–99%) | Esineb 1 haiguses |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NEK2NIMA related kinase 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NR2E3nuclear receptor subfamily 2 group E member 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| OFD1OFD1 centriole and centriolar satellite protein | Väga sageli (80–99%) | Esineb 1 haiguses |
| PCAREphotoreceptor cilium actin regulator | Väga sageli (80–99%) | Esineb 2 haiguses |
| PCDH15protocadherin related 15 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PDE6Aphosphodiesterase 6A | Väga sageli (80–99%) | Esineb 2 haiguses |
| PDE6Bphosphodiesterase 6B | Väga sageli (80–99%) | Esineb 1 haiguses |
| PDE6Cphosphodiesterase 6C | Väga sageli (80–99%) | Esineb 1 haiguses |
| PDE6Gphosphodiesterase 6G | Väga sageli (80–99%) | Esineb 1 haiguses |
| PDZD7PDZ domain containing 7 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PNPLA6patatin like domain 6, lysophospholipase | Väga sageli (80–99%) | Esineb 1 haiguses |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Väga sageli (80–99%) | Esineb 1 haiguses |
| PRCDphotoreceptor disc component | Väga sageli (80–99%) | Esineb 1 haiguses |
| PROM1prominin 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PRPF3pre-mRNA processing factor 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PRPF31pre-mRNA processing factor 31 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PRPF4pre-mRNA splicing tri-snRNP complex factor PRPF4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PRPF6pre-mRNA processing factor 6 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PRPF8pre-mRNA processing factor 8 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PRPH2peripherin 2 | Väga sageli (80–99%) | Esineb 3 haiguses |
| RBP3retinol binding protein 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RDH12retinol dehydrogenase 12 | Väga sageli (80–99%) | Esineb 2 haiguses |
| REEP6receptor accessory protein 6 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RGRretinal G protein coupled receptor | Väga sageli (80–99%) | Esineb 1 haiguses |
| RLBP1retinaldehyde binding protein 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| RNF216ring finger protein 216 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RNU4-2RNA, U4 small nuclear 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RNU6-1RNA, U6 small nuclear 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RNU6-2RNA, U6 small nuclear 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RNU6-8RNA, U6 small nuclear 8 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RNU6-9RNA, U6 small nuclear 9 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ROM1retinal outer segment membrane protein 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| RP1RP1 axonemal microtubule associated | Väga sageli (80–99%) | Esineb 1 haiguses |
| RP1L1RP1 like 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RP2RP2 activator of ARL3 GTPase | Väga sageli (80–99%) | Esineb 1 haiguses |
| RP9RP9 pre-mRNA splicing factor | Väga sageli (80–99%) | Esineb 1 haiguses |
| RPE65retinoid isomerohydrolase RPE65 | Väga sageli (80–99%) | Esineb 2 haiguses |
| RPGRretinitis pigmentosa GTPase regulator | Väga sageli (80–99%) | Esineb 1 haiguses |
| RS1retinoschisin 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SAGS-antigen visual arrestin | Väga sageli (80–99%) | Esineb 1 haiguses |
| SAXO6stabilizer of axonemal microtubules 6 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SCAPERS-phase cyclin A associated protein in the ER | Väga sageli (80–99%) | Esineb 2 haiguses |
| SEMA4Asemaphorin 4A | Väga sageli (80–99%) | Esineb 1 haiguses |
| SLC7A14solute carrier family 7 member 14 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SNRNP200small nuclear ribonucleoprotein U5 subunit 200 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SPATA7spermatogenesis associated 7 | Väga sageli (80–99%) | Esineb 2 haiguses |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Väga sageli (80–99%) | Esineb 1 haiguses |
| TMEM216transmembrane protein 216 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Väga sageli (80–99%) | Esineb 2 haiguses |
| TTC8tetratricopeptide repeat domain 8 | Väga sageli (80–99%) | Esineb 2 haiguses |
| TUBTUB bipartite transcription factor | Väga sageli (80–99%) | Esineb 1 haiguses |
| TULP1TUB like protein 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| USH1GUSH1 protein network component sans | Väga sageli (80–99%) | Esineb 1 haiguses |
| USH2Ausherin | Väga sageli (80–99%) | Esineb 3 haiguses |
| WHRNwhirlin | Väga sageli (80–99%) | Esineb 1 haiguses |
| ZNF408zinc finger protein 408 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ZNF513zinc finger protein 513 | Väga sageli (80–99%) | Esineb 1 haiguses |
| AIPL1AIP like 1 HSP90 co-chaperone | Sageli (30–79%) | Esineb 1 haiguses |
| ALMS1ALMS1 centrosome and basal body associated protein | Sageli (30–79%) | Esineb 1 haiguses |
| BBIP1BBSome interacting protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| BBS10Bardet-Biedl syndrome 10 | Sageli (30–79%) | Esineb 1 haiguses |
| BBS12Bardet-Biedl syndrome 12 | Sageli (30–79%) | Esineb 1 haiguses |
| BBS4Bardet-Biedl syndrome 4 | Sageli (30–79%) | Esineb 1 haiguses |
| BBS5Bardet-Biedl syndrome 5 | Sageli (30–79%) | Esineb 1 haiguses |
| BBS7Bardet-Biedl syndrome 7 | Sageli (30–79%) | Esineb 1 haiguses |
| BBS9Bardet-Biedl syndrome 9 | Sageli (30–79%) | Esineb 1 haiguses |
| CABP4calcium binding protein 4 | Sageli (30–79%) | Esineb 1 haiguses |
| CEP104centrosomal protein 104 | Sageli (30–79%) | Esineb 1 haiguses |
| CEP19centrosomal protein 19 | Sageli (30–79%) | Esineb 1 haiguses |
| CEP290centrosomal protein 290 | Sageli (30–79%) | Esineb 2 haiguses |
| COL25A1collagen type XXV alpha 1 chain | Sageli (30–79%) | Esineb 1 haiguses |
| EMC1ER membrane protein complex subunit 1 | Sageli (30–79%) | Esineb 1 haiguses |
| GDF6growth differentiation factor 6 | Sageli (30–79%) | Esineb 1 haiguses |
| GNB5G protein subunit beta 5 | Sageli (30–79%) | Esineb 2 haiguses |
| GUCY2Dguanylate cyclase 2D, retinal | Sageli (30–79%) | Esineb 1 haiguses |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Sageli (30–79%) | Esineb 1 haiguses |
| IFT27intraflagellar transport 27 | Sageli (30–79%) | Esineb 1 haiguses |
| IFT74intraflagellar transport 74 | 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 |
| KIF21Akinesin family member 21A | Sageli (30–79%) | Esineb 1 haiguses |
| LCA5lebercilin LCA5 | Sageli (30–79%) | Esineb 1 haiguses |
| LZTFL1leucine zipper transcription factor like 1 | Sageli (30–79%) | Esineb 1 haiguses |
| MKKSMKKS centrosomal shuttling protein | Sageli (30–79%) | Esineb 1 haiguses |
| MKS1MKS transition zone complex subunit 1 | Sageli (30–79%) | Esineb 1 haiguses |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| NPHP1nephrocystin 1 | Sageli (30–79%) | Esineb 1 haiguses |
| OTX2orthodenticle homeobox 2 | Sageli (30–79%) | Esineb 1 haiguses |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Sageli (30–79%) | Esineb 1 haiguses |
| PHOX2Apaired like homeobox 2A | Sageli (30–79%) | Esineb 1 haiguses |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Sageli (30–79%) | Esineb 2 haiguses |
| POGZpogo transposable element derived with ZNF domain | Sageli (30–79%) | Esineb 1 haiguses |
| RD3RD3 regulator of GUCY2D | Sageli (30–79%) | Esineb 1 haiguses |
| SCLT1sodium channel and clathrin linker 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Sageli (30–79%) | Esineb 1 haiguses |
| TRIM32tripartite motif containing 32 | Sageli (30–79%) | Esineb 1 haiguses |
| TUBA1Atubulin alpha 1a | Sageli (30–79%) | Esineb 1 haiguses |
| TUBB2Btubulin beta 2B class IIb | Sageli (30–79%) | Esineb 1 haiguses |
| TUBB3tubulin beta 3 class III | Sageli (30–79%) | Esineb 1 haiguses |
| TUBB4Btubulin beta 4B class IVb | Sageli (30–79%) | Esineb 1 haiguses |
| USP45ubiquitin specific peptidase 45 | Sageli (30–79%) | Esineb 1 haiguses |
| WDPCPWD repeat containing planar cell polarity effector | Sageli (30–79%) | Esineb 1 haiguses |
| WWOXWW domain containing oxidoreductase | Sageli (30–79%) | Esineb 1 haiguses |
| AGKacylglycerol kinase | Mõnikord (5–29%) | Esineb 1 haiguses |
| CWC27CWC27 spliceosome associated cyclophilin | Mõnikord (5–29%) | Esineb 1 haiguses |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MCOLN1mucolipin TRP cation channel 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-CYBmitochondrially encoded cytochrome b | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-ND4Lmitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| OPN1LWopsin 1, long wave sensitive | Mõnikord (5–29%) | Esineb 1 haiguses |
| OPN1MWopsin 1, medium wave sensitive | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC25A4solute carrier family 25 member 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TKFCtriokinase and FMN cyclase | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZNF699zinc finger protein 699 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CAPN5calpain 5 | Pole registreeritud | Esineb 1 haiguses |
| NOTCH3notch receptor 3 | Pole registreeritud | Esineb 1 haiguses |
| PEX1peroxisomal biogenesis factor 1 | Pole registreeritud | Esineb 1 haiguses |
| SSBP1single stranded DNA binding protein 1 | Pole registreeritud | Esineb 1 haiguses |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Pole registreeritud | Esineb 1 haiguses |
| TIMP3TIMP metallopeptidase inhibitor 3 | Pole registreeritud | Esineb 1 haiguses |
| VSX1visual system homeobox 1 | Pole registreeritud | 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