Træk
Optic disc pallor
A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.
Resumé
- Også kaldet
- Pale optic disc
- Kropssystem
- Abnormality of the eye
ReferencegenomGRCh38hg38
Positioner på gen- og variantsider følger dette valg i denne browser.
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Bestil min Genome Test271 gener knyttet til Optic disc pallor
Ændringer i disse gener forårsager sjældne tilstande, hvor Optic disc pallor 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 |
|---|---|---|
| ACER3alkaline ceramidase 3 | Altid | I 1 tilstand |
| ACO2aconitase 2 | Altid | I 1 tilstand |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Altid | I 1 tilstand |
| ARL13BARF like GTPase 13B | Altid | I 1 tilstand |
| BBS5Bardet-Biedl syndrome 5 | Altid | I 1 tilstand |
| BORCS8BLOC-1 related complex subunit 8 | Altid | I 1 tilstand |
| CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin | Altid | I 1 tilstand |
| CNGA1cyclic nucleotide gated channel subunit alpha 1 | Altid | I 2 tilstande |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Altid | I 2 tilstande |
| DNM1Ldynamin 1L | Altid | I 2 tilstande |
| FDXRferredoxin reductase | Altid | I 1 tilstand |
| GNAT1G protein subunit alpha transducin 1 | Altid | I 1 tilstand |
| HARS1histidyl-tRNA synthetase 1 | Altid | I 1 tilstand |
| IDH3Bisocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | Altid | I 2 tilstande |
| IDH3Gisocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma | Altid | I 1 tilstand |
| IFT172intraflagellar transport 172 | Altid | I 2 tilstande |
| IFT43intraflagellar transport 43 | Altid | I 2 tilstande |
| IMPDH1inosine monophosphate dehydrogenase 1 | Altid | I 3 tilstande |
| ITM2Bintegral membrane protein 2B | Altid | I 1 tilstand |
| KIF5Akinesin family member 5A | Altid | I 1 tilstand |
| KLC4kinesin light chain 4 | Altid | I 1 tilstand |
| MCATmalonyl-CoA-acyl carrier protein transacylase | Altid | I 1 tilstand |
| MFRPmembrane frizzled-related protein | Altid | I 1 tilstand |
| MIEF1mitochondrial elongation factor 1 | Altid | I 1 tilstand |
| NDUFA13NADH:ubiquinone oxidoreductase subunit A13 | Altid | I 1 tilstand |
| NDUFAF3NADH:ubiquinone oxidoreductase complex assembly factor 3 | Altid | I 2 tilstande |
| NDUFS3NADH:ubiquinone oxidoreductase core subunit S3 | Altid | I 2 tilstande |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Altid | I 1 tilstand |
| OTX2orthodenticle homeobox 2 | Altid | I 3 tilstande |
| PDE6Aphosphodiesterase 6A | Altid | I 2 tilstande |
| PDXKpyridoxal kinase | Altid | I 1 tilstand |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Altid | I 1 tilstand |
| PROM1prominin 1 | Altid | I 3 tilstande |
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Altid | I 1 tilstand |
| RIMS2regulating synaptic membrane exocytosis 2 | Altid | I 1 tilstand |
| RP1RP1 axonemal microtubule associated | Altid | I 2 tilstande |
| RP1L1RP1 like 1 | Altid | I 2 tilstande |
| RTN4IP1reticulon 4 interacting protein 1 | Altid | I 1 tilstand |
| SCAPERS-phase cyclin A associated protein in the ER | Altid | I 2 tilstande |
| SDHDsuccinate dehydrogenase complex subunit D | Altid | I 1 tilstand |
Vis 231 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| TBC1D32TBC1 domain family member 32 | Altid | I 1 tilstand |
| TOR1Atorsin family 1 member A | Altid | I 1 tilstand |
| UBAP1Lubiquitin associated protein 1 like | Altid | I 2 tilstande |
| USP45ubiquitin specific peptidase 45 | Altid | I 2 tilstande |
| VPS41VPS41 subunit of HOPS complex | Altid | I 1 tilstand |
| ZNF408zinc finger protein 408 | Altid | I 2 tilstande |
| ZNF513zinc finger protein 513 | Altid | I 2 tilstande |
| CLCN7Cl-/H+ antiporter 7 | Meget ofte (80–99 %) | I 1 tilstand |
| CRB1crumbs cell polarity complex component 1 | Meget ofte (80–99 %) | I 3 tilstande |
| ESPNespin | Meget ofte (80–99 %) | I 1 tilstand |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Meget ofte (80–99 %) | I 1 tilstand |
| IMPG2interphotoreceptor matrix proteoglycan 2 | Meget ofte (80–99 %) | I 2 tilstande |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Meget ofte (80–99 %) | I 1 tilstand |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Meget ofte (80–99 %) | I 1 tilstand |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFA11NADH:ubiquinone oxidoreductase subunit A11 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFAF1NADH:ubiquinone oxidoreductase complex assembly factor 1 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFAF8NADH:ubiquinone oxidoreductase complex assembly factor 8 | Meget ofte (80–99 %) | I 2 tilstande |
| NDUFB10NADH:ubiquinone oxidoreductase subunit B10 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFB3NADH:ubiquinone oxidoreductase subunit B3 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFB9NADH:ubiquinone oxidoreductase subunit B9 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Meget ofte (80–99 %) | I 2 tilstande |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Meget ofte (80–99 %) | I 2 tilstande |
| NDUFS6NADH:ubiquinone oxidoreductase subunit S6 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFS7NADH:ubiquinone oxidoreductase core subunit S7 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFS8NADH:ubiquinone oxidoreductase core subunit S8 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFV1NADH:ubiquinone oxidoreductase core subunit V1 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFV2NADH:ubiquinone oxidoreductase core subunit V2 | Meget ofte (80–99 %) | I 1 tilstand |
| NR2F1nuclear receptor subfamily 2 group F member 1 | Meget ofte (80–99 %) | I 1 tilstand |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Meget ofte (80–99 %) | I 1 tilstand |
| PRPF4pre-mRNA splicing tri-snRNP complex factor PRPF4 | Meget ofte (80–99 %) | I 2 tilstande |
| RAX2retina and anterior neural fold homeobox 2 | Meget ofte (80–99 %) | I 2 tilstande |
| TIMMDC1translocase of inner mitochondrial membrane domain containing 1 | Meget ofte (80–99 %) | I 1 tilstand |
| TMEM126Btransmembrane protein 126B | Meget ofte (80–99 %) | I 1 tilstand |
| ABCA4ATP binding cassette subfamily A member 4 | Ofte (30–79 %) | I 4 tilstande |
| ADAM9ADAM metallopeptidase domain 9 | Ofte (30–79 %) | I 1 tilstand |
| AGBL5AGBL carboxypeptidase 5 | Ofte (30–79 %) | I 1 tilstand |
| AHI1Abelson helper integration site 1 | Ofte (30–79 %) | I 1 tilstand |
| AHRaryl hydrocarbon receptor | Ofte (30–79 %) | I 1 tilstand |
| AIPL1AIP like 1 HSP90 co-chaperone | Ofte (30–79 %) | I 3 tilstande |
| ALMS1ALMS1 centrosome and basal body associated protein | Ofte (30–79 %) | I 3 tilstande |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Ofte (30–79 %) | I 1 tilstand |
| ARHGEF18Rho/Rac guanine nucleotide exchange factor 18 | Ofte (30–79 %) | I 2 tilstande |
| ARHGEF2Rho/Rac guanine nucleotide exchange factor 2 | Ofte (30–79 %) | I 1 tilstand |
| ARL2BPARF like GTPase 2 binding protein | Ofte (30–79 %) | I 2 tilstande |
| ARL3ARF like GTPase 3 | Ofte (30–79 %) | I 1 tilstand |
| ARL6ARF like GTPase 6 | Ofte (30–79 %) | I 1 tilstand |
| ATF6activating transcription factor 6 | Ofte (30–79 %) | I 1 tilstand |
| BBS1Bardet-Biedl syndrome 1 | Ofte (30–79 %) | I 1 tilstand |
| BBS2Bardet-Biedl syndrome 2 | Ofte (30–79 %) | I 2 tilstande |
| BEST1bestrophin 1 | Ofte (30–79 %) | I 2 tilstande |
| CA4carbonic anhydrase 4 | Ofte (30–79 %) | I 1 tilstand |
| CABP4calcium binding protein 4 | Ofte (30–79 %) | I 2 tilstande |
| CACNA1Fcalcium voltage-gated channel subunit alpha1 F | Ofte (30–79 %) | I 2 tilstande |
| CACNA2D4calcium voltage-gated channel auxiliary subunit alpha2delta 4 | Ofte (30–79 %) | I 1 tilstand |
| CASKcalcium/calmodulin dependent serine protein kinase | Ofte (30–79 %) | I 2 tilstande |
| CC2D2Acoiled-coil and C2 domain containing 2A | Ofte (30–79 %) | I 1 tilstand |
| CDHR1cadherin related family member 1 | Ofte (30–79 %) | I 2 tilstande |
| CERKLCERK like autophagy regulator | Ofte (30–79 %) | I 2 tilstande |
| CFAP20cilia and flagella associated protein 20 | Ofte (30–79 %) | I 1 tilstand |
| CFAP410cilia and flagella associated protein 410 | Ofte (30–79 %) | I 1 tilstand |
| CFAP418cilia and flagella associated protein 418 | Ofte (30–79 %) | I 3 tilstande |
| CLDN11claudin 11 | Ofte (30–79 %) | I 1 tilstand |
| CLN8CLN8 transmembrane ER and ERGIC protein | Ofte (30–79 %) | I 1 tilstand |
| CLRN1clarin 1 | Ofte (30–79 %) | I 1 tilstand |
| CNGA3cyclic nucleotide gated channel subunit alpha 3 | Ofte (30–79 %) | I 1 tilstand |
| CNGB1cyclic nucleotide gated channel subunit beta 1 | Ofte (30–79 %) | I 1 tilstand |
| CNNM4cyclin and CBS domain divalent metal cation transport mediator 4 | Ofte (30–79 %) | I 1 tilstand |
| COL18A1collagen type XVIII alpha 1 chain | Ofte (30–79 %) | I 1 tilstand |
| COQ8Bcoenzyme Q8B | Ofte (30–79 %) | I 1 tilstand |
| CRXcone-rod homeobox | Ofte (30–79 %) | I 3 tilstande |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Ofte (30–79 %) | I 2 tilstande |
| DARS1aspartyl-tRNA synthetase 1 | Ofte (30–79 %) | I 1 tilstand |
| DHX38DEAH-box helicase 38 | Ofte (30–79 %) | I 1 tilstand |
| DRAM2DNA damage regulated autophagy modulator 2 | Ofte (30–79 %) | I 1 tilstand |
| ELOVL1ELOVL fatty acid elongase 1 | Ofte (30–79 %) | I 1 tilstand |
| EXOC8exocyst complex component 8 | Ofte (30–79 %) | I 1 tilstand |
| EYSEGF-like photoreceptor maintenance factor | Ofte (30–79 %) | I 2 tilstande |
| FAM161AFAM161 centrosomal protein A | Ofte (30–79 %) | I 2 tilstande |
| FANCIFA complementation group I | Ofte (30–79 %) | I 1 tilstand |
| FGF12fibroblast growth factor 12 | Ofte (30–79 %) | I 1 tilstand |
| FLRT1fibronectin leucine rich transmembrane protein 1 | Ofte (30–79 %) | I 1 tilstand |
| FSCN2fascin actin-bundling protein 2, retinal | Ofte (30–79 %) | I 1 tilstand |
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Ofte (30–79 %) | I 3 tilstande |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Ofte (30–79 %) | I 1 tilstand |
| GRID2glutamate ionotropic receptor delta type subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| GUCA1Aguanylate cyclase activator 1A | Ofte (30–79 %) | I 1 tilstand |
| GUCA1Bguanylate cyclase activator 1B | Ofte (30–79 %) | I 1 tilstand |
| GUCY2Dguanylate cyclase 2D, retinal | Ofte (30–79 %) | I 2 tilstande |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Ofte (30–79 %) | I 2 tilstande |
| HKDC1hexokinase domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| HLA-Amajor histocompatibility complex, class I, A | Ofte (30–79 %) | I 1 tilstand |
| HRASHRas proto-oncogene, GTPase | Ofte (30–79 %) | I 1 tilstand |
| IDH3Aisocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha | Ofte (30–79 %) | I 1 tilstand |
| IFT140intraflagellar transport 140 | Ofte (30–79 %) | I 2 tilstande |
| IFT88intraflagellar transport 88 | Ofte (30–79 %) | I 1 tilstand |
| IMPG1interphotoreceptor matrix proteoglycan 1 | Ofte (30–79 %) | I 1 tilstand |
| KCNJ13potassium inwardly rectifying channel subfamily J member 13 | Ofte (30–79 %) | I 3 tilstande |
| KIAA1549KIAA1549 | Ofte (30–79 %) | I 2 tilstande |
| KIZkizuna centrosomal protein | Ofte (30–79 %) | I 1 tilstand |
| KLC2kinesin light chain 2 | Ofte (30–79 %) | I 2 tilstande |
| KLHL7kelch like family member 7 | Ofte (30–79 %) | I 1 tilstand |
| LCA5lebercilin LCA5 | Ofte (30–79 %) | I 2 tilstande |
| LRATlecithin retinol acyltransferase | Ofte (30–79 %) | I 4 tilstande |
| LYRM7LYR motif containing 7 | Ofte (30–79 %) | I 1 tilstand |
| MAKmale germ cell associated kinase | Ofte (30–79 %) | I 2 tilstande |
| MAPKAPK5MAPK activated protein kinase 5 | Ofte (30–79 %) | I 1 tilstand |
| MERTKMER proto-oncogene, tyrosine kinase | Ofte (30–79 %) | I 2 tilstande |
| MFFmitochondrial fission factor | Ofte (30–79 %) | I 2 tilstande |
| MFSD8major facilitator superfamily domain containing 8 | Ofte (30–79 %) | I 2 tilstande |
| MKS1MKS transition zone complex subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Ofte (30–79 %) | I 1 tilstand |
| MTFMTmitochondrial methionyl-tRNA formyltransferase | Ofte (30–79 %) | I 1 tilstand |
| MVKmevalonate kinase | Ofte (30–79 %) | I 2 tilstande |
| NDUFC2NADH:ubiquinone oxidoreductase subunit C2 | Ofte (30–79 %) | I 1 tilstand |
| NEK2NIMA related kinase 2 | Ofte (30–79 %) | I 1 tilstand |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Ofte (30–79 %) | I 4 tilstande |
| NR2E3nuclear receptor subfamily 2 group E member 3 | Ofte (30–79 %) | I 1 tilstand |
| NRLneural retina leucine zipper | Ofte (30–79 %) | I 1 tilstand |
| OFD1OFD1 centriole and centriolar satellite protein | Ofte (30–79 %) | I 1 tilstand |
| OPA1OPA1 mitochondrial dynamin like GTPase | Ofte (30–79 %) | I 1 tilstand |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Ofte (30–79 %) | I 1 tilstand |
| OPN1LWopsin 1, long wave sensitive | Ofte (30–79 %) | I 1 tilstand |
| OPN1MWopsin 1, medium wave sensitive | Ofte (30–79 %) | I 1 tilstand |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Ofte (30–79 %) | I 1 tilstand |
| PANK2pantothenate kinase 2 | Ofte (30–79 %) | I 1 tilstand |
| PCAREphotoreceptor cilium actin regulator | Ofte (30–79 %) | I 1 tilstand |
| PDE6Bphosphodiesterase 6B | Ofte (30–79 %) | I 1 tilstand |
| PDE6Gphosphodiesterase 6G | Ofte (30–79 %) | I 2 tilstande |
| PITPNM3PITPNM family member 3 | Ofte (30–79 %) | I 1 tilstand |
| POC1BPOC1 centriolar protein B | Ofte (30–79 %) | I 2 tilstande |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Ofte (30–79 %) | I 1 tilstand |
| PRCDphotoreceptor disc component | Ofte (30–79 %) | I 2 tilstande |
| PRPF3pre-mRNA processing factor 3 | Ofte (30–79 %) | I 1 tilstand |
| PRPF31pre-mRNA processing factor 31 | Ofte (30–79 %) | I 2 tilstande |
| PRPF6pre-mRNA processing factor 6 | Ofte (30–79 %) | I 2 tilstande |
| PRPF8pre-mRNA processing factor 8 | Ofte (30–79 %) | I 1 tilstand |
| PRPH2peripherin 2 | Ofte (30–79 %) | I 4 tilstande |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Ofte (30–79 %) | I 1 tilstand |
| RAB28RAB28, member RAS oncogene family | Ofte (30–79 %) | I 1 tilstand |
| RBP3retinol binding protein 3 | Ofte (30–79 %) | I 2 tilstande |
| RDH12retinol dehydrogenase 12 | Ofte (30–79 %) | I 3 tilstande |
| REEP6receptor accessory protein 6 | Ofte (30–79 %) | I 1 tilstand |
| RGRretinal G protein coupled receptor | Ofte (30–79 %) | I 1 tilstand |
| RHOrhodopsin | Ofte (30–79 %) | I 1 tilstand |
| RIMS1regulating synaptic membrane exocytosis 1 | Ofte (30–79 %) | I 1 tilstand |
| RLBP1retinaldehyde binding protein 1 | Ofte (30–79 %) | I 1 tilstand |
| RNU4-2RNA, U4 small nuclear 2 | Ofte (30–79 %) | I 1 tilstand |
| RNU6-1RNA, U6 small nuclear 1 | Ofte (30–79 %) | I 1 tilstand |
| RNU6-2RNA, U6 small nuclear 2 | Ofte (30–79 %) | I 1 tilstand |
| RNU6-8RNA, U6 small nuclear 8 | Ofte (30–79 %) | I 1 tilstand |
| RNU6-9RNA, U6 small nuclear 9 | Ofte (30–79 %) | I 1 tilstand |
| ROM1retinal outer segment membrane protein 1 | Ofte (30–79 %) | I 1 tilstand |
| RP2RP2 activator of ARL3 GTPase | Ofte (30–79 %) | I 1 tilstand |
| RP9RP9 pre-mRNA splicing factor | Ofte (30–79 %) | I 1 tilstand |
| RPE65retinoid isomerohydrolase RPE65 | Ofte (30–79 %) | I 4 tilstande |
| RPGRretinitis pigmentosa GTPase regulator | Ofte (30–79 %) | I 2 tilstande |
| RPGRIP1RPGR interacting protein 1 | Ofte (30–79 %) | I 4 tilstande |
| SAGS-antigen visual arrestin | Ofte (30–79 %) | I 1 tilstand |
| SAXO6stabilizer of axonemal microtubules 6 | Ofte (30–79 %) | I 1 tilstand |
| SEMA4Asemaphorin 4A | Ofte (30–79 %) | I 2 tilstande |
| SLC7A14solute carrier family 7 member 14 | Ofte (30–79 %) | I 1 tilstand |
| SNRNP200small nuclear ribonucleoprotein U5 subunit 200 | Ofte (30–79 %) | I 2 tilstande |
| SPATA7spermatogenesis associated 7 | Ofte (30–79 %) | I 3 tilstande |
| STX3syntaxin 3 | Ofte (30–79 %) | I 1 tilstand |
| TLCD3BTLC domain containing 3B | Ofte (30–79 %) | I 1 tilstand |
| TMEM216transmembrane protein 216 | Ofte (30–79 %) | I 1 tilstand |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Ofte (30–79 %) | I 1 tilstand |
| TRNT1tRNA nucleotidyl transferase 1 | Ofte (30–79 %) | I 1 tilstand |
| TTC8tetratricopeptide repeat domain 8 | Ofte (30–79 %) | I 1 tilstand |
| TTLL5tubulin tyrosine ligase like 5 | Ofte (30–79 %) | I 1 tilstand |
| TUBTUB bipartite transcription factor | Ofte (30–79 %) | I 1 tilstand |
| TULP1TUB like protein 1 | Ofte (30–79 %) | I 4 tilstande |
| UNC119unc-119 lipid binding chaperone | Ofte (30–79 %) | I 1 tilstand |
| USH2Ausherin | Ofte (30–79 %) | I 1 tilstand |
| VSX1visual system homeobox 1 | Ofte (30–79 %) | I 1 tilstand |
| WFS1wolframin ER transmembrane glycoprotein | Ofte (30–79 %) | I 1 tilstand |
| AP4M1adaptor related protein complex 4 subunit mu 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CEP290centrosomal protein 290 | Nogle gange (5–29 %) | I 1 tilstand |
| COX7Bcytochrome c oxidase subunit 7B | Nogle gange (5–29 %) | I 1 tilstand |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Nogle gange (5–29 %) | I 1 tilstand |
| GDF6growth differentiation factor 6 | Nogle gange (5–29 %) | I 1 tilstand |
| HNRNPH1heterogeneous nuclear ribonucleoprotein H1 | Nogle gange (5–29 %) | I 1 tilstand |
| INPP5Einositol polyphosphate-5-phosphatase E | Nogle gange (5–29 %) | I 1 tilstand |
| IQCB1IQ motif containing B1 | Nogle gange (5–29 %) | I 1 tilstand |
| JAM3junctional adhesion molecule 3 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNC3potassium voltage-gated channel subfamily C member 3 | Nogle gange (5–29 %) | I 1 tilstand |
| MAN2B1mannosidase alpha class 2B member 1 | Nogle gange (5–29 %) | I 2 tilstande |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Nogle gange (5–29 %) | I 1 tilstand |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Nogle gange (5–29 %) | I 1 tilstand |
| NFIXnuclear factor I X | Nogle gange (5–29 %) | I 1 tilstand |
| PCLOpiccolo presynaptic cytomatrix protein | Nogle gange (5–29 %) | I 1 tilstand |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Nogle gange (5–29 %) | I 1 tilstand |
| PLK4polo like kinase 4 | Nogle gange (5–29 %) | I 1 tilstand |
| PRORPprotein only RNase P catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| RD3RD3 regulator of GUCY2D | Nogle gange (5–29 %) | I 1 tilstand |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Nogle gange (5–29 %) | I 1 tilstand |
| RTTNrotatin | Nogle gange (5–29 %) | I 1 tilstand |
| SMG8SMG8 nonsense mediated mRNA decay factor | Nogle gange (5–29 %) | I 1 tilstand |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Nogle gange (5–29 %) | I 1 tilstand |
| SPOUT1SPOUT domain containing methyltransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TASP1taspase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM106Btransmembrane protein 106B | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM67transmembrane protein 67 | Nogle gange (5–29 %) | I 1 tilstand |
| TPI1triosephosphate isomerase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TUBB4Btubulin beta 4B class IVb | Nogle gange (5–29 %) | I 1 tilstand |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Sjældent (1–4%) | I 1 tilstand |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Sjældent (1–4%) | I 1 tilstand |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Sjældent (1–4%) | I 1 tilstand |
| NGLY1N-glycanase 1 | Sjældent (1–4%) | I 1 tilstand |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Ikke registreret | I 1 tilstand |
| ATXN1ataxin 1 | Ikke registreret | I 1 tilstand |
| BLOC1S3biogenesis of lysosomal organelles complex 1 subunit 3 | Ikke registreret | I 1 tilstand |
| CLCC1chloride channel CLIC like 1 | Ikke registreret | I 1 tilstand |
| HK1hexokinase 1 | Ikke registreret | I 1 tilstand |
| MFN2mitofusin 2 | Ikke registreret | I 2 tilstande |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Ikke registreret | I 1 tilstand |
| PEX1peroxisomal biogenesis factor 1 | Ikke registreret | I 1 tilstand |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Ikke registreret | I 1 tilstand |
| PISDphosphatidylserine decarboxylase | Ikke registreret | I 1 tilstand |
| TMEM126Atransmembrane protein 126A | Ikke registreret | I 1 tilstand |
| TUBGCP6tubulin gamma complex component 6 | Ikke registreret | I 1 tilstand |
| UBE3Bubiquitin protein ligase E3B | 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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Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
Én test. Svar for hele livet.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger