Træk
Abnormal electroretinogram
Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography.
Resumé
- Også kaldet
- Abnormal electroretinography, Abnormal ERG, ERG abnormal
- Kropssystem
- Abnormality of the eye
ReferencegenomGRCh38hg38
Positioner på gen- og variantsider følger dette valg i denne browser.
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Ændringer i disse gener forårsager sjældne tilstande, hvor Abnormal electroretinogram ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| CFAP20cilia and flagella associated protein 20 | Altid | I 2 tilstande |
| CNGB1cyclic nucleotide gated channel subunit beta 1 | Altid | I 2 tilstande |
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Altid | I 2 tilstande |
| GTPBP2GTP binding protein 2 | Altid | I 1 tilstand |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Altid | I 1 tilstand |
| MYO7Amyosin VIIA | Altid | I 3 tilstande |
| NRLneural retina leucine zipper | Altid | I 2 tilstande |
| RDH8retinol dehydrogenase 8 | Altid | I 1 tilstand |
| RHOrhodopsin | Altid | I 2 tilstande |
| RPGRIP1RPGR interacting protein 1 | Altid | I 3 tilstande |
| TRPM1transient receptor potential cation channel subfamily M member 1 | Altid | I 1 tilstand |
| UBAP1Lubiquitin associated protein 1 like | Altid | I 1 tilstand |
| USH1CUSH1 protein network component harmonin | Altid | I 2 tilstande |
| ABCA4ATP binding cassette subfamily A member 4 | Meget ofte (80–99 %) | I 2 tilstande |
| ACOX1acyl-CoA oxidase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| ADGRV1adhesion G protein-coupled receptor V1 | Meget ofte (80–99 %) | I 1 tilstand |
| AGBL5AGBL carboxypeptidase 5 | Meget ofte (80–99 %) | I 1 tilstand |
| AHI1Abelson helper integration site 1 | Meget ofte (80–99 %) | I 2 tilstande |
| AHRaryl hydrocarbon receptor | Meget ofte (80–99 %) | I 1 tilstand |
| ARHGEF18Rho/Rac guanine nucleotide exchange factor 18 | Meget ofte (80–99 %) | I 1 tilstand |
| ARL2BPARF like GTPase 2 binding protein | Meget ofte (80–99 %) | I 1 tilstand |
| ARL3ARF like GTPase 3 | Meget ofte (80–99 %) | I 1 tilstand |
| ARL6ARF like GTPase 6 | Meget ofte (80–99 %) | I 2 tilstande |
| ARSGarylsulfatase G | Meget ofte (80–99 %) | I 1 tilstand |
| BBS1Bardet-Biedl syndrome 1 | Meget ofte (80–99 %) | I 2 tilstande |
| BBS2Bardet-Biedl syndrome 2 | Meget ofte (80–99 %) | I 2 tilstande |
| BEST1bestrophin 1 | Meget ofte (80–99 %) | I 3 tilstande |
| CA4carbonic anhydrase 4 | Meget ofte (80–99 %) | I 1 tilstand |
| CACNA1Fcalcium voltage-gated channel subunit alpha1 F | Meget ofte (80–99 %) | I 1 tilstand |
| CC2D2Acoiled-coil and C2 domain containing 2A | Meget ofte (80–99 %) | I 1 tilstand |
| CDH23cadherin related 23 | Meget ofte (80–99 %) | I 1 tilstand |
| CDHR1cadherin related family member 1 | Meget ofte (80–99 %) | I 1 tilstand |
| CEP78centrosomal protein 78 | Meget ofte (80–99 %) | I 1 tilstand |
| CERKLCERK like autophagy regulator | Meget ofte (80–99 %) | I 1 tilstand |
| CFAP418cilia and flagella associated protein 418 | Meget ofte (80–99 %) | I 2 tilstande |
| CHMCHM Rab escort protein | Meget ofte (80–99 %) | I 1 tilstand |
| CLRN1clarin 1 | Meget ofte (80–99 %) | I 2 tilstande |
| CNGA1cyclic nucleotide gated channel subunit alpha 1 | Meget ofte (80–99 %) | I 1 tilstand |
| CNGB3cyclic nucleotide gated channel subunit beta 3 | Meget ofte (80–99 %) | I 1 tilstand |
| COQ8Bcoenzyme Q8B | Meget ofte (80–99 %) | I 1 tilstand |
Vis 160 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| CRB1crumbs cell polarity complex component 1 | Meget ofte (80–99 %) | I 2 tilstande |
| CRXcone-rod homeobox | Meget ofte (80–99 %) | I 3 tilstande |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Meget ofte (80–99 %) | I 1 tilstand |
| DHX38DEAH-box helicase 38 | Meget ofte (80–99 %) | I 1 tilstand |
| ESPNespin | Meget ofte (80–99 %) | I 1 tilstand |
| EYSEGF-like photoreceptor maintenance factor | Meget ofte (80–99 %) | I 1 tilstand |
| FAM161AFAM161 centrosomal protein A | Meget ofte (80–99 %) | I 1 tilstand |
| FSCN2fascin actin-bundling protein 2, retinal | Meget ofte (80–99 %) | I 1 tilstand |
| GNAT2G protein subunit alpha transducin 2 | Meget ofte (80–99 %) | I 1 tilstand |
| GUCA1Aguanylate cyclase activator 1A | Meget ofte (80–99 %) | I 1 tilstand |
| GUCA1Bguanylate cyclase activator 1B | Meget ofte (80–99 %) | I 1 tilstand |
| HARS1histidyl-tRNA synthetase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Meget ofte (80–99 %) | I 1 tilstand |
| HKDC1hexokinase domain containing 1 | Meget ofte (80–99 %) | I 1 tilstand |
| IDH3Aisocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha | Meget ofte (80–99 %) | I 1 tilstand |
| IDH3Bisocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | Meget ofte (80–99 %) | I 1 tilstand |
| IFT140intraflagellar transport 140 | Meget ofte (80–99 %) | I 2 tilstande |
| IFT172intraflagellar transport 172 | Meget ofte (80–99 %) | I 2 tilstande |
| IFT43intraflagellar transport 43 | Meget ofte (80–99 %) | I 1 tilstand |
| IFT88intraflagellar transport 88 | Meget ofte (80–99 %) | I 1 tilstand |
| IMPDH1inosine monophosphate dehydrogenase 1 | Meget ofte (80–99 %) | I 2 tilstande |
| IMPG1interphotoreceptor matrix proteoglycan 1 | Meget ofte (80–99 %) | I 1 tilstand |
| IMPG2interphotoreceptor matrix proteoglycan 2 | Meget ofte (80–99 %) | I 1 tilstand |
| KIAA1549KIAA1549 | Meget ofte (80–99 %) | I 1 tilstand |
| KIZkizuna centrosomal protein | Meget ofte (80–99 %) | I 1 tilstand |
| KLHL7kelch like family member 7 | Meget ofte (80–99 %) | I 1 tilstand |
| LRATlecithin retinol acyltransferase | Meget ofte (80–99 %) | I 2 tilstande |
| MAKmale germ cell associated kinase | Meget ofte (80–99 %) | I 1 tilstand |
| MERTKMER proto-oncogene, tyrosine kinase | Meget ofte (80–99 %) | I 1 tilstand |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Meget ofte (80–99 %) | I 1 tilstand |
| NEK2NIMA related kinase 2 | Meget ofte (80–99 %) | I 1 tilstand |
| NR2E3nuclear receptor subfamily 2 group E member 3 | Meget ofte (80–99 %) | I 1 tilstand |
| OFD1OFD1 centriole and centriolar satellite protein | Meget ofte (80–99 %) | I 1 tilstand |
| PCAREphotoreceptor cilium actin regulator | Meget ofte (80–99 %) | I 2 tilstande |
| PCDH15protocadherin related 15 | Meget ofte (80–99 %) | I 1 tilstand |
| PDE6Aphosphodiesterase 6A | Meget ofte (80–99 %) | I 2 tilstande |
| PDE6Bphosphodiesterase 6B | Meget ofte (80–99 %) | I 1 tilstand |
| PDE6Cphosphodiesterase 6C | Meget ofte (80–99 %) | I 1 tilstand |
| PDE6Gphosphodiesterase 6G | Meget ofte (80–99 %) | I 1 tilstand |
| PDZD7PDZ domain containing 7 | Meget ofte (80–99 %) | I 1 tilstand |
| PNPLA6patatin like domain 6, lysophospholipase | Meget ofte (80–99 %) | I 1 tilstand |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Meget ofte (80–99 %) | I 1 tilstand |
| PRCDphotoreceptor disc component | Meget ofte (80–99 %) | I 1 tilstand |
| PROM1prominin 1 | Meget ofte (80–99 %) | I 1 tilstand |
| PRPF3pre-mRNA processing factor 3 | Meget ofte (80–99 %) | I 1 tilstand |
| PRPF31pre-mRNA processing factor 31 | Meget ofte (80–99 %) | I 1 tilstand |
| PRPF4pre-mRNA splicing tri-snRNP complex factor PRPF4 | Meget ofte (80–99 %) | I 1 tilstand |
| PRPF6pre-mRNA processing factor 6 | Meget ofte (80–99 %) | I 1 tilstand |
| PRPF8pre-mRNA processing factor 8 | Meget ofte (80–99 %) | I 1 tilstand |
| PRPH2peripherin 2 | Meget ofte (80–99 %) | I 3 tilstande |
| RBP3retinol binding protein 3 | Meget ofte (80–99 %) | I 1 tilstand |
| RDH12retinol dehydrogenase 12 | Meget ofte (80–99 %) | I 2 tilstande |
| REEP6receptor accessory protein 6 | Meget ofte (80–99 %) | I 1 tilstand |
| RGRretinal G protein coupled receptor | Meget ofte (80–99 %) | I 1 tilstand |
| RLBP1retinaldehyde binding protein 1 | Meget ofte (80–99 %) | I 2 tilstande |
| RNF216ring finger protein 216 | Meget ofte (80–99 %) | I 1 tilstand |
| RNU4-2RNA, U4 small nuclear 2 | Meget ofte (80–99 %) | I 1 tilstand |
| RNU6-1RNA, U6 small nuclear 1 | Meget ofte (80–99 %) | I 1 tilstand |
| RNU6-2RNA, U6 small nuclear 2 | Meget ofte (80–99 %) | I 1 tilstand |
| RNU6-8RNA, U6 small nuclear 8 | Meget ofte (80–99 %) | I 1 tilstand |
| RNU6-9RNA, U6 small nuclear 9 | Meget ofte (80–99 %) | I 1 tilstand |
| ROM1retinal outer segment membrane protein 1 | Meget ofte (80–99 %) | I 2 tilstande |
| RP1RP1 axonemal microtubule associated | Meget ofte (80–99 %) | I 1 tilstand |
| RP1L1RP1 like 1 | Meget ofte (80–99 %) | I 1 tilstand |
| RP2RP2 activator of ARL3 GTPase | Meget ofte (80–99 %) | I 1 tilstand |
| RP9RP9 pre-mRNA splicing factor | Meget ofte (80–99 %) | I 1 tilstand |
| RPE65retinoid isomerohydrolase RPE65 | Meget ofte (80–99 %) | I 2 tilstande |
| RPGRretinitis pigmentosa GTPase regulator | Meget ofte (80–99 %) | I 1 tilstand |
| RS1retinoschisin 1 | Meget ofte (80–99 %) | I 1 tilstand |
| SAGS-antigen visual arrestin | Meget ofte (80–99 %) | I 1 tilstand |
| SAXO6stabilizer of axonemal microtubules 6 | Meget ofte (80–99 %) | I 1 tilstand |
| SCAPERS-phase cyclin A associated protein in the ER | Meget ofte (80–99 %) | I 2 tilstande |
| SEMA4Asemaphorin 4A | Meget ofte (80–99 %) | I 1 tilstand |
| SLC7A14solute carrier family 7 member 14 | Meget ofte (80–99 %) | I 1 tilstand |
| SNRNP200small nuclear ribonucleoprotein U5 subunit 200 | Meget ofte (80–99 %) | I 1 tilstand |
| SPATA7spermatogenesis associated 7 | Meget ofte (80–99 %) | I 2 tilstande |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Meget ofte (80–99 %) | I 1 tilstand |
| TMEM216transmembrane protein 216 | Meget ofte (80–99 %) | I 1 tilstand |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Meget ofte (80–99 %) | I 2 tilstande |
| TTC8tetratricopeptide repeat domain 8 | Meget ofte (80–99 %) | I 2 tilstande |
| TUBTUB bipartite transcription factor | Meget ofte (80–99 %) | I 1 tilstand |
| TULP1TUB like protein 1 | Meget ofte (80–99 %) | I 2 tilstande |
| USH1GUSH1 protein network component sans | Meget ofte (80–99 %) | I 1 tilstand |
| USH2Ausherin | Meget ofte (80–99 %) | I 3 tilstande |
| WHRNwhirlin | Meget ofte (80–99 %) | I 1 tilstand |
| ZNF408zinc finger protein 408 | Meget ofte (80–99 %) | I 1 tilstand |
| ZNF513zinc finger protein 513 | Meget ofte (80–99 %) | I 1 tilstand |
| AIPL1AIP like 1 HSP90 co-chaperone | Ofte (30–79 %) | I 1 tilstand |
| ALMS1ALMS1 centrosome and basal body associated protein | Ofte (30–79 %) | I 1 tilstand |
| BBIP1BBSome interacting protein 1 | Ofte (30–79 %) | I 1 tilstand |
| BBS10Bardet-Biedl syndrome 10 | Ofte (30–79 %) | I 1 tilstand |
| BBS12Bardet-Biedl syndrome 12 | Ofte (30–79 %) | I 1 tilstand |
| BBS4Bardet-Biedl syndrome 4 | Ofte (30–79 %) | I 1 tilstand |
| BBS5Bardet-Biedl syndrome 5 | Ofte (30–79 %) | I 1 tilstand |
| BBS7Bardet-Biedl syndrome 7 | Ofte (30–79 %) | I 1 tilstand |
| BBS9Bardet-Biedl syndrome 9 | Ofte (30–79 %) | I 1 tilstand |
| CABP4calcium binding protein 4 | Ofte (30–79 %) | I 1 tilstand |
| CEP104centrosomal protein 104 | Ofte (30–79 %) | I 1 tilstand |
| CEP19centrosomal protein 19 | Ofte (30–79 %) | I 1 tilstand |
| CEP290centrosomal protein 290 | Ofte (30–79 %) | I 2 tilstande |
| COL25A1collagen type XXV alpha 1 chain | Ofte (30–79 %) | I 1 tilstand |
| EMC1ER membrane protein complex subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| GDF6growth differentiation factor 6 | Ofte (30–79 %) | I 1 tilstand |
| GNB5G protein subunit beta 5 | Ofte (30–79 %) | I 2 tilstande |
| GUCY2Dguanylate cyclase 2D, retinal | Ofte (30–79 %) | I 1 tilstand |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Ofte (30–79 %) | I 1 tilstand |
| IFT27intraflagellar transport 27 | Ofte (30–79 %) | I 1 tilstand |
| IFT74intraflagellar transport 74 | Ofte (30–79 %) | I 1 tilstand |
| IQCB1IQ motif containing B1 | Ofte (30–79 %) | I 1 tilstand |
| KCNJ13potassium inwardly rectifying channel subfamily J member 13 | Ofte (30–79 %) | I 1 tilstand |
| KIF21Akinesin family member 21A | Ofte (30–79 %) | I 1 tilstand |
| LCA5lebercilin LCA5 | Ofte (30–79 %) | I 1 tilstand |
| LZTFL1leucine zipper transcription factor like 1 | Ofte (30–79 %) | I 1 tilstand |
| MKKSMKKS centrosomal shuttling protein | Ofte (30–79 %) | I 1 tilstand |
| MKS1MKS transition zone complex subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| NPHP1nephrocystin 1 | Ofte (30–79 %) | I 1 tilstand |
| OTX2orthodenticle homeobox 2 | Ofte (30–79 %) | I 1 tilstand |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Ofte (30–79 %) | I 1 tilstand |
| PHOX2Apaired like homeobox 2A | Ofte (30–79 %) | I 1 tilstand |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Ofte (30–79 %) | I 2 tilstande |
| POGZpogo transposable element derived with ZNF domain | Ofte (30–79 %) | I 1 tilstand |
| RD3RD3 regulator of GUCY2D | Ofte (30–79 %) | I 1 tilstand |
| SCLT1sodium channel and clathrin linker 1 | Ofte (30–79 %) | I 1 tilstand |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Ofte (30–79 %) | I 1 tilstand |
| TRIM32tripartite motif containing 32 | Ofte (30–79 %) | I 1 tilstand |
| TUBA1Atubulin alpha 1a | Ofte (30–79 %) | I 1 tilstand |
| TUBB2Btubulin beta 2B class IIb | Ofte (30–79 %) | I 1 tilstand |
| TUBB3tubulin beta 3 class III | Ofte (30–79 %) | I 1 tilstand |
| TUBB4Btubulin beta 4B class IVb | Ofte (30–79 %) | I 1 tilstand |
| USP45ubiquitin specific peptidase 45 | Ofte (30–79 %) | I 1 tilstand |
| WDPCPWD repeat containing planar cell polarity effector | Ofte (30–79 %) | I 1 tilstand |
| WWOXWW domain containing oxidoreductase | Ofte (30–79 %) | I 1 tilstand |
| AGKacylglycerol kinase | Nogle gange (5–29 %) | I 1 tilstand |
| CWC27CWC27 spliceosome associated cyclophilin | Nogle gange (5–29 %) | I 1 tilstand |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Nogle gange (5–29 %) | I 1 tilstand |
| MCOLN1mucolipin TRP cation channel 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Nogle gange (5–29 %) | I 1 tilstand |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Nogle gange (5–29 %) | I 1 tilstand |
| MT-CYBmitochondrially encoded cytochrome b | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ND4Lmitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Nogle gange (5–29 %) | I 1 tilstand |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Nogle gange (5–29 %) | I 1 tilstand |
| OPN1LWopsin 1, long wave sensitive | Nogle gange (5–29 %) | I 1 tilstand |
| OPN1MWopsin 1, medium wave sensitive | Nogle gange (5–29 %) | I 1 tilstand |
| SLC25A4solute carrier family 25 member 4 | Nogle gange (5–29 %) | I 1 tilstand |
| TKFCtriokinase and FMN cyclase | Nogle gange (5–29 %) | I 1 tilstand |
| ZNF699zinc finger protein 699 | Nogle gange (5–29 %) | I 1 tilstand |
| CAPN5calpain 5 | Ikke registreret | I 1 tilstand |
| NOTCH3notch receptor 3 | Ikke registreret | I 1 tilstand |
| PEX1peroxisomal biogenesis factor 1 | Ikke registreret | I 1 tilstand |
| SSBP1single stranded DNA binding protein 1 | Ikke registreret | I 1 tilstand |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Ikke registreret | I 1 tilstand |
| TIMP3TIMP metallopeptidase inhibitor 3 | Ikke registreret | I 1 tilstand |
| VSX1visual system homeobox 1 | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
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- Dataudgivelse 2026.10.16-c6eea6bf.
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