Piirre
Abnormal electroretinogram
Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography.
Yhteenveto
- Tunnetaan myös nimellä
- Abnormal electroretinography, Abnormal ERG, ERG abnormal
- Elimistön järjestelmä
- Abnormality of the eye
ViitegenomiGRCh38hg38
Geenien ja varianttien sivujen sijainnit noudattavat tätä valintaa tässä selaimessa.
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Tilaa Genome Test200 geeniä, jotka liittyvät piirteeseen Abnormal electroretinogram
Näiden geenien muutokset aiheuttavat harvinaisia sairauksia, joissa Abnormal electroretinogram esiintyy. Useimmilla, joilla on tämä piirre, ei ole mitään näistä sairauksista, eikä tämän listan geeni kerro mitään kenenkään omasta genomista.
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| CFAP20cilia and flagella associated protein 20 | Aina | 2 sairaudessa |
| CNGB1cyclic nucleotide gated channel subunit beta 1 | Aina | 2 sairaudessa |
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Aina | 2 sairaudessa |
| GTPBP2GTP binding protein 2 | Aina | 1 sairaudessa |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Aina | 1 sairaudessa |
| MYO7Amyosin VIIA | Aina | 3 sairaudessa |
| NRLneural retina leucine zipper | Aina | 2 sairaudessa |
| RDH8retinol dehydrogenase 8 | Aina | 1 sairaudessa |
| RHOrhodopsin | Aina | 2 sairaudessa |
| RPGRIP1RPGR interacting protein 1 | Aina | 3 sairaudessa |
| TRPM1transient receptor potential cation channel subfamily M member 1 | Aina | 1 sairaudessa |
| UBAP1Lubiquitin associated protein 1 like | Aina | 1 sairaudessa |
| USH1CUSH1 protein network component harmonin | Aina | 2 sairaudessa |
| ABCA4ATP binding cassette subfamily A member 4 | Hyvin usein (80–99%) | 2 sairaudessa |
| ACOX1acyl-CoA oxidase 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| ADGRV1adhesion G protein-coupled receptor V1 | Hyvin usein (80–99%) | 1 sairaudessa |
| AGBL5AGBL carboxypeptidase 5 | Hyvin usein (80–99%) | 1 sairaudessa |
| AHI1Abelson helper integration site 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| AHRaryl hydrocarbon receptor | Hyvin usein (80–99%) | 1 sairaudessa |
| ARHGEF18Rho/Rac guanine nucleotide exchange factor 18 | Hyvin usein (80–99%) | 1 sairaudessa |
| ARL2BPARF like GTPase 2 binding protein | Hyvin usein (80–99%) | 1 sairaudessa |
| ARL3ARF like GTPase 3 | Hyvin usein (80–99%) | 1 sairaudessa |
| ARL6ARF like GTPase 6 | Hyvin usein (80–99%) | 2 sairaudessa |
| ARSGarylsulfatase G | Hyvin usein (80–99%) | 1 sairaudessa |
| BBS1Bardet-Biedl syndrome 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| BBS2Bardet-Biedl syndrome 2 | Hyvin usein (80–99%) | 2 sairaudessa |
| BEST1bestrophin 1 | Hyvin usein (80–99%) | 3 sairaudessa |
| CA4carbonic anhydrase 4 | Hyvin usein (80–99%) | 1 sairaudessa |
| CACNA1Fcalcium voltage-gated channel subunit alpha1 F | Hyvin usein (80–99%) | 1 sairaudessa |
| CC2D2Acoiled-coil and C2 domain containing 2A | Hyvin usein (80–99%) | 1 sairaudessa |
| CDH23cadherin related 23 | Hyvin usein (80–99%) | 1 sairaudessa |
| CDHR1cadherin related family member 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| CEP78centrosomal protein 78 | Hyvin usein (80–99%) | 1 sairaudessa |
| CERKLCERK like autophagy regulator | Hyvin usein (80–99%) | 1 sairaudessa |
| CFAP418cilia and flagella associated protein 418 | Hyvin usein (80–99%) | 2 sairaudessa |
| CHMCHM Rab escort protein | Hyvin usein (80–99%) | 1 sairaudessa |
| CLRN1clarin 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| CNGA1cyclic nucleotide gated channel subunit alpha 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| CNGB3cyclic nucleotide gated channel subunit beta 3 | Hyvin usein (80–99%) | 1 sairaudessa |
| COQ8Bcoenzyme Q8B | Hyvin usein (80–99%) | 1 sairaudessa |
Näytä 160 geeniä lisää
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| CRB1crumbs cell polarity complex component 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| CRXcone-rod homeobox | Hyvin usein (80–99%) | 3 sairaudessa |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Hyvin usein (80–99%) | 1 sairaudessa |
| DHX38DEAH-box helicase 38 | Hyvin usein (80–99%) | 1 sairaudessa |
| ESPNespin | Hyvin usein (80–99%) | 1 sairaudessa |
| EYSEGF-like photoreceptor maintenance factor | Hyvin usein (80–99%) | 1 sairaudessa |
| FAM161AFAM161 centrosomal protein A | Hyvin usein (80–99%) | 1 sairaudessa |
| FSCN2fascin actin-bundling protein 2, retinal | Hyvin usein (80–99%) | 1 sairaudessa |
| GNAT2G protein subunit alpha transducin 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| GUCA1Aguanylate cyclase activator 1A | Hyvin usein (80–99%) | 1 sairaudessa |
| GUCA1Bguanylate cyclase activator 1B | Hyvin usein (80–99%) | 1 sairaudessa |
| HARS1histidyl-tRNA synthetase 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Hyvin usein (80–99%) | 1 sairaudessa |
| HKDC1hexokinase domain containing 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| IDH3Aisocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha | Hyvin usein (80–99%) | 1 sairaudessa |
| IDH3Bisocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | Hyvin usein (80–99%) | 1 sairaudessa |
| IFT140intraflagellar transport 140 | Hyvin usein (80–99%) | 2 sairaudessa |
| IFT172intraflagellar transport 172 | Hyvin usein (80–99%) | 2 sairaudessa |
| IFT43intraflagellar transport 43 | Hyvin usein (80–99%) | 1 sairaudessa |
| IFT88intraflagellar transport 88 | Hyvin usein (80–99%) | 1 sairaudessa |
| IMPDH1inosine monophosphate dehydrogenase 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| IMPG1interphotoreceptor matrix proteoglycan 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| IMPG2interphotoreceptor matrix proteoglycan 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| KIAA1549KIAA1549 | Hyvin usein (80–99%) | 1 sairaudessa |
| KIZkizuna centrosomal protein | Hyvin usein (80–99%) | 1 sairaudessa |
| KLHL7kelch like family member 7 | Hyvin usein (80–99%) | 1 sairaudessa |
| LRATlecithin retinol acyltransferase | Hyvin usein (80–99%) | 2 sairaudessa |
| MAKmale germ cell associated kinase | Hyvin usein (80–99%) | 1 sairaudessa |
| MERTKMER proto-oncogene, tyrosine kinase | Hyvin usein (80–99%) | 1 sairaudessa |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| NEK2NIMA related kinase 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| NR2E3nuclear receptor subfamily 2 group E member 3 | Hyvin usein (80–99%) | 1 sairaudessa |
| OFD1OFD1 centriole and centriolar satellite protein | Hyvin usein (80–99%) | 1 sairaudessa |
| PCAREphotoreceptor cilium actin regulator | Hyvin usein (80–99%) | 2 sairaudessa |
| PCDH15protocadherin related 15 | Hyvin usein (80–99%) | 1 sairaudessa |
| PDE6Aphosphodiesterase 6A | Hyvin usein (80–99%) | 2 sairaudessa |
| PDE6Bphosphodiesterase 6B | Hyvin usein (80–99%) | 1 sairaudessa |
| PDE6Cphosphodiesterase 6C | Hyvin usein (80–99%) | 1 sairaudessa |
| PDE6Gphosphodiesterase 6G | Hyvin usein (80–99%) | 1 sairaudessa |
| PDZD7PDZ domain containing 7 | Hyvin usein (80–99%) | 1 sairaudessa |
| PNPLA6patatin like domain 6, lysophospholipase | Hyvin usein (80–99%) | 1 sairaudessa |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Hyvin usein (80–99%) | 1 sairaudessa |
| PRCDphotoreceptor disc component | Hyvin usein (80–99%) | 1 sairaudessa |
| PROM1prominin 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| PRPF3pre-mRNA processing factor 3 | Hyvin usein (80–99%) | 1 sairaudessa |
| PRPF31pre-mRNA processing factor 31 | Hyvin usein (80–99%) | 1 sairaudessa |
| PRPF4pre-mRNA splicing tri-snRNP complex factor PRPF4 | Hyvin usein (80–99%) | 1 sairaudessa |
| PRPF6pre-mRNA processing factor 6 | Hyvin usein (80–99%) | 1 sairaudessa |
| PRPF8pre-mRNA processing factor 8 | Hyvin usein (80–99%) | 1 sairaudessa |
| PRPH2peripherin 2 | Hyvin usein (80–99%) | 3 sairaudessa |
| RBP3retinol binding protein 3 | Hyvin usein (80–99%) | 1 sairaudessa |
| RDH12retinol dehydrogenase 12 | Hyvin usein (80–99%) | 2 sairaudessa |
| REEP6receptor accessory protein 6 | Hyvin usein (80–99%) | 1 sairaudessa |
| RGRretinal G protein coupled receptor | Hyvin usein (80–99%) | 1 sairaudessa |
| RLBP1retinaldehyde binding protein 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| RNF216ring finger protein 216 | Hyvin usein (80–99%) | 1 sairaudessa |
| RNU4-2RNA, U4 small nuclear 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| RNU6-1RNA, U6 small nuclear 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| RNU6-2RNA, U6 small nuclear 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| RNU6-8RNA, U6 small nuclear 8 | Hyvin usein (80–99%) | 1 sairaudessa |
| RNU6-9RNA, U6 small nuclear 9 | Hyvin usein (80–99%) | 1 sairaudessa |
| ROM1retinal outer segment membrane protein 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| RP1RP1 axonemal microtubule associated | Hyvin usein (80–99%) | 1 sairaudessa |
| RP1L1RP1 like 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| RP2RP2 activator of ARL3 GTPase | Hyvin usein (80–99%) | 1 sairaudessa |
| RP9RP9 pre-mRNA splicing factor | Hyvin usein (80–99%) | 1 sairaudessa |
| RPE65retinoid isomerohydrolase RPE65 | Hyvin usein (80–99%) | 2 sairaudessa |
| RPGRretinitis pigmentosa GTPase regulator | Hyvin usein (80–99%) | 1 sairaudessa |
| RS1retinoschisin 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| SAGS-antigen visual arrestin | Hyvin usein (80–99%) | 1 sairaudessa |
| SAXO6stabilizer of axonemal microtubules 6 | Hyvin usein (80–99%) | 1 sairaudessa |
| SCAPERS-phase cyclin A associated protein in the ER | Hyvin usein (80–99%) | 2 sairaudessa |
| SEMA4Asemaphorin 4A | Hyvin usein (80–99%) | 1 sairaudessa |
| SLC7A14solute carrier family 7 member 14 | Hyvin usein (80–99%) | 1 sairaudessa |
| SNRNP200small nuclear ribonucleoprotein U5 subunit 200 | Hyvin usein (80–99%) | 1 sairaudessa |
| SPATA7spermatogenesis associated 7 | Hyvin usein (80–99%) | 2 sairaudessa |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Hyvin usein (80–99%) | 1 sairaudessa |
| TMEM216transmembrane protein 216 | Hyvin usein (80–99%) | 1 sairaudessa |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Hyvin usein (80–99%) | 2 sairaudessa |
| TTC8tetratricopeptide repeat domain 8 | Hyvin usein (80–99%) | 2 sairaudessa |
| TUBTUB bipartite transcription factor | Hyvin usein (80–99%) | 1 sairaudessa |
| TULP1TUB like protein 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| USH1GUSH1 protein network component sans | Hyvin usein (80–99%) | 1 sairaudessa |
| USH2Ausherin | Hyvin usein (80–99%) | 3 sairaudessa |
| WHRNwhirlin | Hyvin usein (80–99%) | 1 sairaudessa |
| ZNF408zinc finger protein 408 | Hyvin usein (80–99%) | 1 sairaudessa |
| ZNF513zinc finger protein 513 | Hyvin usein (80–99%) | 1 sairaudessa |
| AIPL1AIP like 1 HSP90 co-chaperone | Usein (30–79%) | 1 sairaudessa |
| ALMS1ALMS1 centrosome and basal body associated protein | Usein (30–79%) | 1 sairaudessa |
| BBIP1BBSome interacting protein 1 | Usein (30–79%) | 1 sairaudessa |
| BBS10Bardet-Biedl syndrome 10 | Usein (30–79%) | 1 sairaudessa |
| BBS12Bardet-Biedl syndrome 12 | Usein (30–79%) | 1 sairaudessa |
| BBS4Bardet-Biedl syndrome 4 | Usein (30–79%) | 1 sairaudessa |
| BBS5Bardet-Biedl syndrome 5 | Usein (30–79%) | 1 sairaudessa |
| BBS7Bardet-Biedl syndrome 7 | Usein (30–79%) | 1 sairaudessa |
| BBS9Bardet-Biedl syndrome 9 | Usein (30–79%) | 1 sairaudessa |
| CABP4calcium binding protein 4 | Usein (30–79%) | 1 sairaudessa |
| CEP104centrosomal protein 104 | Usein (30–79%) | 1 sairaudessa |
| CEP19centrosomal protein 19 | Usein (30–79%) | 1 sairaudessa |
| CEP290centrosomal protein 290 | Usein (30–79%) | 2 sairaudessa |
| COL25A1collagen type XXV alpha 1 chain | Usein (30–79%) | 1 sairaudessa |
| EMC1ER membrane protein complex subunit 1 | Usein (30–79%) | 1 sairaudessa |
| GDF6growth differentiation factor 6 | Usein (30–79%) | 1 sairaudessa |
| GNB5G protein subunit beta 5 | Usein (30–79%) | 2 sairaudessa |
| GUCY2Dguanylate cyclase 2D, retinal | Usein (30–79%) | 1 sairaudessa |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Usein (30–79%) | 1 sairaudessa |
| IFT27intraflagellar transport 27 | Usein (30–79%) | 1 sairaudessa |
| IFT74intraflagellar transport 74 | Usein (30–79%) | 1 sairaudessa |
| IQCB1IQ motif containing B1 | Usein (30–79%) | 1 sairaudessa |
| KCNJ13potassium inwardly rectifying channel subfamily J member 13 | Usein (30–79%) | 1 sairaudessa |
| KIF21Akinesin family member 21A | Usein (30–79%) | 1 sairaudessa |
| LCA5lebercilin LCA5 | Usein (30–79%) | 1 sairaudessa |
| LZTFL1leucine zipper transcription factor like 1 | Usein (30–79%) | 1 sairaudessa |
| MKKSMKKS centrosomal shuttling protein | Usein (30–79%) | 1 sairaudessa |
| MKS1MKS transition zone complex subunit 1 | Usein (30–79%) | 1 sairaudessa |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Usein (30–79%) | 1 sairaudessa |
| NPHP1nephrocystin 1 | Usein (30–79%) | 1 sairaudessa |
| OTX2orthodenticle homeobox 2 | Usein (30–79%) | 1 sairaudessa |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Usein (30–79%) | 1 sairaudessa |
| PHOX2Apaired like homeobox 2A | Usein (30–79%) | 1 sairaudessa |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Usein (30–79%) | 2 sairaudessa |
| POGZpogo transposable element derived with ZNF domain | Usein (30–79%) | 1 sairaudessa |
| RD3RD3 regulator of GUCY2D | Usein (30–79%) | 1 sairaudessa |
| SCLT1sodium channel and clathrin linker 1 | Usein (30–79%) | 1 sairaudessa |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Usein (30–79%) | 1 sairaudessa |
| TRIM32tripartite motif containing 32 | Usein (30–79%) | 1 sairaudessa |
| TUBA1Atubulin alpha 1a | Usein (30–79%) | 1 sairaudessa |
| TUBB2Btubulin beta 2B class IIb | Usein (30–79%) | 1 sairaudessa |
| TUBB3tubulin beta 3 class III | Usein (30–79%) | 1 sairaudessa |
| TUBB4Btubulin beta 4B class IVb | Usein (30–79%) | 1 sairaudessa |
| USP45ubiquitin specific peptidase 45 | Usein (30–79%) | 1 sairaudessa |
| WDPCPWD repeat containing planar cell polarity effector | Usein (30–79%) | 1 sairaudessa |
| WWOXWW domain containing oxidoreductase | Usein (30–79%) | 1 sairaudessa |
| AGKacylglycerol kinase | Joskus (5–29%) | 1 sairaudessa |
| CWC27CWC27 spliceosome associated cyclophilin | Joskus (5–29%) | 1 sairaudessa |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Joskus (5–29%) | 1 sairaudessa |
| MCOLN1mucolipin TRP cation channel 1 | Joskus (5–29%) | 1 sairaudessa |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Joskus (5–29%) | 1 sairaudessa |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Joskus (5–29%) | 1 sairaudessa |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Joskus (5–29%) | 1 sairaudessa |
| MT-CYBmitochondrially encoded cytochrome b | Joskus (5–29%) | 1 sairaudessa |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Joskus (5–29%) | 1 sairaudessa |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Joskus (5–29%) | 1 sairaudessa |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Joskus (5–29%) | 1 sairaudessa |
| MT-ND4Lmitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L | Joskus (5–29%) | 1 sairaudessa |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Joskus (5–29%) | 1 sairaudessa |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Joskus (5–29%) | 1 sairaudessa |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Joskus (5–29%) | 1 sairaudessa |
| OPN1LWopsin 1, long wave sensitive | Joskus (5–29%) | 1 sairaudessa |
| OPN1MWopsin 1, medium wave sensitive | Joskus (5–29%) | 1 sairaudessa |
| SLC25A4solute carrier family 25 member 4 | Joskus (5–29%) | 1 sairaudessa |
| TKFCtriokinase and FMN cyclase | Joskus (5–29%) | 1 sairaudessa |
| ZNF699zinc finger protein 699 | Joskus (5–29%) | 1 sairaudessa |
| CAPN5calpain 5 | Ei kirjattu | 1 sairaudessa |
| NOTCH3notch receptor 3 | Ei kirjattu | 1 sairaudessa |
| PEX1peroxisomal biogenesis factor 1 | Ei kirjattu | 1 sairaudessa |
| SSBP1single stranded DNA binding protein 1 | Ei kirjattu | 1 sairaudessa |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Ei kirjattu | 1 sairaudessa |
| TIMP3TIMP metallopeptidase inhibitor 3 | Ei kirjattu | 1 sairaudessa |
| VSX1visual system homeobox 1 | Ei kirjattu | 1 sairaudessa |
Kuinka usein ilmiö esiintyy ihmisillä, joilla on jokin geenin sairauksista, niin kuin Human Phenotype Ontology sen kirjaa. Nämä sivut kuvaavat piirteitä ja niiden taustalla olevaa tutkimusta, eivätkä ne ole diagnoosi. Oireista kannattaa kysyä lääkäriltä tai geneettiseltä neuvojalta.
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Mistä tämä tieto tulee
- Human Phenotype Ontology, julkaisu 2026-09-01: piirre, sen nimet, määritelmä ja siihen liitetyt geenit. Lue lisää osoitteesta hpo.jax.org.
- Tietojulkaisu 2026.10.16-c6eea6bf.
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