Træk
Blindness
Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation.
Resumé
- Også kaldet
- Legal blindness, Total vision loss
- Kropssystem
- Abnormality of the eye
ReferencegenomGRCh38hg38
Positioner på gen- og variantsider følger dette valg i denne browser.
Read the genes linked to Blindness, and the rest of your genome, with one test.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger
Bestil min Genome Test311 gener knyttet til Blindness
Ændringer i disse gener forårsager sjældne tilstande, hvor Blindness 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 |
|---|---|---|
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Altid | I 1 tilstand |
| ARNT2aryl hydrocarbon receptor nuclear translocator 2 | Altid | I 1 tilstand |
| ASNSasparagine synthetase (glutamine-hydrolyzing) | Altid | I 1 tilstand |
| CAPN5calpain 5 | Altid | I 1 tilstand |
| EIF4A2eukaryotic translation initiation factor 4A2 | Altid | I 1 tilstand |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Altid | I 1 tilstand |
| FDXRferredoxin reductase | Altid | I 2 tilstande |
| GTPBP2GTP binding protein 2 | Altid | I 1 tilstand |
| IFT140intraflagellar transport 140 | Altid | I 3 tilstande |
| KLC4kinesin light chain 4 | Altid | I 1 tilstand |
| LRP5LDL receptor related protein 5 | Altid | I 5 tilstande |
| MED16mediator complex subunit 16 | Altid | I 1 tilstand |
| NDC1NDC1 transmembrane nucleoporin | Altid | I 1 tilstand |
| NDUFV1NADH:ubiquinone oxidoreductase core subunit V1 | Altid | I 2 tilstande |
| NHEJ1non-homologous end joining factor 1 | Altid | I 1 tilstand |
| ABCA4ATP binding cassette subfamily A member 4 | 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 1 tilstand |
| AHRaryl hydrocarbon receptor | Meget ofte (80–99 %) | I 1 tilstand |
| ALMS1ALMS1 centrosome and basal body associated protein | Meget ofte (80–99 %) | I 2 tilstande |
| 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 |
| 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 2 tilstande |
| CA4carbonic anhydrase 4 | Meget ofte (80–99 %) | I 1 tilstand |
| CC2D2Acoiled-coil and C2 domain containing 2A | Meget ofte (80–99 %) | I 2 tilstande |
| CDH3cadherin 3 | Meget ofte (80–99 %) | I 2 tilstande |
| CDHR1cadherin related family member 1 | Meget ofte (80–99 %) | I 1 tilstand |
| CERKLCERK like autophagy regulator | Meget ofte (80–99 %) | I 1 tilstand |
| CFAP20cilia and flagella associated protein 20 | Meget ofte (80–99 %) | I 1 tilstand |
| CFAP418cilia and flagella associated protein 418 | Meget ofte (80–99 %) | I 3 tilstande |
| CLRN1clarin 1 | Meget ofte (80–99 %) | I 1 tilstand |
| CNGA1cyclic nucleotide gated channel subunit alpha 1 | Meget ofte (80–99 %) | I 1 tilstand |
| CNGB1cyclic nucleotide gated channel subunit beta 1 | Meget ofte (80–99 %) | I 1 tilstand |
| COQ8Bcoenzyme Q8B | Meget ofte (80–99 %) | I 1 tilstand |
| CRB1crumbs cell polarity complex component 1 | Meget ofte (80–99 %) | I 1 tilstand |
| CRXcone-rod homeobox | Meget ofte (80–99 %) | I 2 tilstande |
Vis 271 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| DHDDSdehydrodolichyl diphosphate synthase subunit | Meget ofte (80–99 %) | I 1 tilstand |
| DHX38DEAH-box helicase 38 | 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 |
| FRAS1Fraser extracellular matrix complex subunit 1 | Meget ofte (80–99 %) | I 2 tilstande |
| FREM2FRAS1 related extracellular matrix 2 | Meget ofte (80–99 %) | I 1 tilstand |
| FSCN2fascin actin-bundling protein 2, retinal | Meget ofte (80–99 %) | I 1 tilstand |
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Meget ofte (80–99 %) | I 1 tilstand |
| GLB1galactosidase beta 1 | Meget ofte (80–99 %) | I 1 tilstand |
| GRIP1glutamate receptor interacting protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| GUCA1Bguanylate cyclase activator 1B | 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 |
| 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 1 tilstand |
| 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 1 tilstand |
| MAKmale germ cell associated kinase | Meget ofte (80–99 %) | I 1 tilstand |
| MERTKMER proto-oncogene, tyrosine kinase | Meget ofte (80–99 %) | I 1 tilstand |
| NDE1nudE neurodevelopment protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| NDPnorrin cystine knot growth factor NDP | Meget ofte (80–99 %) | I 5 tilstande |
| 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 |
| NRLneural retina leucine zipper | Meget ofte (80–99 %) | I 2 tilstande |
| OFD1OFD1 centriole and centriolar satellite protein | Meget ofte (80–99 %) | I 1 tilstand |
| OTX2orthodenticle homeobox 2 | Meget ofte (80–99 %) | I 1 tilstand |
| PCAREphotoreceptor cilium actin regulator | Meget ofte (80–99 %) | I 1 tilstand |
| PDE6Aphosphodiesterase 6A | Meget ofte (80–99 %) | I 1 tilstand |
| PDE6Bphosphodiesterase 6B | Meget ofte (80–99 %) | I 1 tilstand |
| PDE6Gphosphodiesterase 6G | Meget ofte (80–99 %) | I 1 tilstand |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Meget ofte (80–99 %) | I 2 tilstande |
| 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 2 tilstande |
| 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 1 tilstand |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| RBP3retinol binding protein 3 | Meget ofte (80–99 %) | I 1 tilstand |
| RDH12retinol dehydrogenase 12 | Meget ofte (80–99 %) | I 1 tilstand |
| REEP6receptor accessory protein 6 | Meget ofte (80–99 %) | I 1 tilstand |
| RGRretinal G protein coupled receptor | Meget ofte (80–99 %) | I 1 tilstand |
| RHOrhodopsin | Meget ofte (80–99 %) | I 2 tilstande |
| RLBP1retinaldehyde binding protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| RNU4-2RNA, U4 small nuclear 2 | Meget ofte (80–99 %) | I 2 tilstande |
| 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 1 tilstand |
| 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 |
| 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 2 tilstande |
| 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 1 tilstand |
| TMEM216transmembrane protein 216 | Meget ofte (80–99 %) | I 2 tilstande |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Meget ofte (80–99 %) | I 1 tilstand |
| 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 1 tilstand |
| USH2Ausherin | Meget ofte (80–99 %) | I 1 tilstand |
| ZNF408zinc finger protein 408 | Meget ofte (80–99 %) | I 2 tilstande |
| ZNF513zinc finger protein 513 | Meget ofte (80–99 %) | I 1 tilstand |
| ACTBactin beta | 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 |
| CEP19centrosomal protein 19 | Ofte (30–79 %) | I 1 tilstand |
| CEP290centrosomal protein 290 | Ofte (30–79 %) | I 2 tilstande |
| DHX37DEAH-box helicase 37 | Ofte (30–79 %) | I 1 tilstand |
| GUCY2Dguanylate cyclase 2D, retinal | Ofte (30–79 %) | I 1 tilstand |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Ofte (30–79 %) | I 1 tilstand |
| IFT27intraflagellar transport 27 | Ofte (30–79 %) | I 1 tilstand |
| IFT74intraflagellar transport 74 | 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 |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Ofte (30–79 %) | I 3 tilstande |
| NPHP1nephrocystin 1 | Ofte (30–79 %) | I 1 tilstand |
| OATornithine aminotransferase | Ofte (30–79 %) | I 2 tilstande |
| PEX6peroxisomal biogenesis factor 6 | Ofte (30–79 %) | I 1 tilstand |
| RBMXRNA binding motif protein X-linked | Ofte (30–79 %) | I 2 tilstande |
| SCLT1sodium channel and clathrin linker 1 | Ofte (30–79 %) | I 1 tilstand |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Ofte (30–79 %) | I 1 tilstand |
| SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| TMEM138transmembrane protein 138 | Ofte (30–79 %) | I 1 tilstand |
| TMEM231transmembrane protein 231 | Ofte (30–79 %) | I 1 tilstand |
| TMEM237transmembrane protein 237 | Ofte (30–79 %) | I 1 tilstand |
| TRIM32tripartite motif containing 32 | Ofte (30–79 %) | I 1 tilstand |
| WDPCPWD repeat containing planar cell polarity effector | Ofte (30–79 %) | I 1 tilstand |
| ZNF423zinc finger protein 423 | Ofte (30–79 %) | I 1 tilstand |
| AIPAHR interacting HSP90 co-chaperone | Nogle gange (5–29 %) | I 1 tilstand |
| ASPAaspartoacylase | Nogle gange (5–29 %) | I 2 tilstande |
| ATOH7atonal bHLH transcription factor 7 | Nogle gange (5–29 %) | I 1 tilstand |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Nogle gange (5–29 %) | I 1 tilstand |
| ATP5F1AATP synthase F1 subunit alpha | Nogle gange (5–29 %) | I 1 tilstand |
| ATP5F1DATP synthase F1 subunit delta | Nogle gange (5–29 %) | I 1 tilstand |
| ATP5F1EATP synthase F1 subunit epsilon | Nogle gange (5–29 %) | I 1 tilstand |
| ATP5MKATP synthase membrane subunit k | Nogle gange (5–29 %) | I 1 tilstand |
| ATP5POATP synthase peripheral stalk subunit OSCP | Nogle gange (5–29 %) | I 1 tilstand |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ATRXATRX chromatin remodeler | Nogle gange (5–29 %) | I 1 tilstand |
| ATXN7ataxin 7 | Nogle gange (5–29 %) | I 1 tilstand |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| BTNL2butyrophilin like 2 | Nogle gange (5–29 %) | I 1 tilstand |
| C4Acomplement C4A (Chido/Rodgers blood group) | Nogle gange (5–29 %) | I 1 tilstand |
| CCR1C-C motif chemokine receptor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CDH23cadherin related 23 | Nogle gange (5–29 %) | I 2 tilstande |
| CEP164centrosomal protein 164 | Nogle gange (5–29 %) | I 1 tilstand |
| CLCN7Cl-/H+ antiporter 7 | Nogle gange (5–29 %) | I 1 tilstand |
| COX7Bcytochrome c oxidase subunit 7B | Nogle gange (5–29 %) | I 1 tilstand |
| CREBBPCREB binding lysine acetyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| CTNNB1catenin beta 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CYP4V2cytochrome P450 family 4 subfamily V member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| EIF2B1eukaryotic translation initiation factor 2B subunit alpha | Nogle gange (5–29 %) | I 1 tilstand |
| ERAP1endoplasmic reticulum aminopeptidase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| FASFas cell surface death receptor | Nogle gange (5–29 %) | I 1 tilstand |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Nogle gange (5–29 %) | I 1 tilstand |
| FZD4frizzled class receptor 4 | Nogle gange (5–29 %) | I 4 tilstande |
| GALCgalactosylceramidase | Nogle gange (5–29 %) | I 3 tilstande |
| GNAQG protein subunit alpha q | Nogle gange (5–29 %) | I 1 tilstand |
| HCCSholocytochrome c synthase | Nogle gange (5–29 %) | I 1 tilstand |
| HLA-Bmajor histocompatibility complex, class I, B | Nogle gange (5–29 %) | I 1 tilstand |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Nogle gange (5–29 %) | I 1 tilstand |
| IFNGR1interferon gamma receptor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| IL10interleukin 10 | Nogle gange (5–29 %) | I 1 tilstand |
| IL12Ainterleukin 12A | Nogle gange (5–29 %) | I 1 tilstand |
| IL12A-AS1IL12A antisense RNA 1 | Nogle gange (5–29 %) | I 1 tilstand |
| IL23Rinterleukin 23 receptor | Nogle gange (5–29 %) | I 1 tilstand |
| KIF11kinesin family member 11 | Nogle gange (5–29 %) | I 1 tilstand |
| KLRC4killer cell lectin like receptor C4 | Nogle gange (5–29 %) | I 1 tilstand |
| LAMB2laminin subunit beta 2 | Nogle gange (5–29 %) | I 1 tilstand |
| LONP1lon peptidase 1, mitochondrial | Nogle gange (5–29 %) | I 1 tilstand |
| MEFVMEFV innate immunity regulator, pyrin | Nogle gange (5–29 %) | I 1 tilstand |
| MEN1menin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | 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-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Nogle gange (5–29 %) | I 1 tilstand |
| MTR5-methyltetrahydrofolate-homocysteine methyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| MTRR5-methyltetrahydrofolate-homocysteine methyltransferase reductase | Nogle gange (5–29 %) | I 1 tilstand |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Nogle gange (5–29 %) | I 1 tilstand |
| NDUFA11NADH:ubiquinone oxidoreductase subunit A11 | Nogle gange (5–29 %) | I 1 tilstand |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Nogle gange (5–29 %) | I 1 tilstand |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Nogle gange (5–29 %) | I 1 tilstand |
| NDUFAF1NADH:ubiquinone oxidoreductase complex assembly factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| NDUFAF3NADH:ubiquinone oxidoreductase complex assembly factor 3 | Nogle gange (5–29 %) | I 1 tilstand |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Nogle gange (5–29 %) | I 1 tilstand |
| NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5 | Nogle gange (5–29 %) | I 1 tilstand |
| NDUFAF8NADH:ubiquinone oxidoreductase complex assembly factor 8 | Nogle gange (5–29 %) | I 1 tilstand |
| NDUFB10NADH:ubiquinone oxidoreductase subunit B10 | Nogle gange (5–29 %) | I 1 tilstand |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Nogle gange (5–29 %) | I 2 tilstande |
| NDUFB3NADH:ubiquinone oxidoreductase subunit B3 | Nogle gange (5–29 %) | I 1 tilstand |
| NDUFB9NADH:ubiquinone oxidoreductase subunit B9 | Nogle gange (5–29 %) | I 1 tilstand |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Nogle gange (5–29 %) | I 1 tilstand |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Nogle gange (5–29 %) | I 1 tilstand |
| NDUFS3NADH:ubiquinone oxidoreductase core subunit S3 | Nogle gange (5–29 %) | I 1 tilstand |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Nogle gange (5–29 %) | I 2 tilstande |
| NDUFS6NADH:ubiquinone oxidoreductase subunit S6 | Nogle gange (5–29 %) | I 1 tilstand |
| NDUFS7NADH:ubiquinone oxidoreductase core subunit S7 | Nogle gange (5–29 %) | I 1 tilstand |
| NDUFS8NADH:ubiquinone oxidoreductase core subunit S8 | Nogle gange (5–29 %) | I 1 tilstand |
| NDUFV2NADH:ubiquinone oxidoreductase core subunit V2 | Nogle gange (5–29 %) | I 1 tilstand |
| NF1neurofibromin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NF2NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | Nogle gange (5–29 %) | I 2 tilstande |
| NLRP3NLR family pyrin domain containing 3 | Nogle gange (5–29 %) | I 1 tilstand |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Nogle gange (5–29 %) | I 1 tilstand |
| OPA1OPA1 mitochondrial dynamin like GTPase | Nogle gange (5–29 %) | I 1 tilstand |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Nogle gange (5–29 %) | I 1 tilstand |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PLA2G6phospholipase A2 group VI | Nogle gange (5–29 %) | I 1 tilstand |
| POLGDNA polymerase gamma, catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| PSAPprosaposin | Nogle gange (5–29 %) | I 1 tilstand |
| STAT4signal transducer and activator of transcription 4 | Nogle gange (5–29 %) | I 1 tilstand |
| TIMMDC1translocase of inner mitochondrial membrane domain containing 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TIMP3TIMP metallopeptidase inhibitor 3 | Nogle gange (5–29 %) | I 2 tilstande |
| TLR4toll like receptor 4 | Nogle gange (5–29 %) | I 1 tilstand |
| TM2D3TM2 domain containing 3 | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM126Btransmembrane protein 126B | Nogle gange (5–29 %) | I 1 tilstand |
| TNFSF11TNF superfamily member 11 | Nogle gange (5–29 %) | I 1 tilstand |
| TSPAN12tetraspanin 12 | Nogle gange (5–29 %) | I 1 tilstand |
| UBAC2UBA domain containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ABCD1ATP binding cassette subfamily D member 1 | Sjældent (1–4%) | I 2 tilstande |
| AKT1AKT serine/threonine kinase 1 | Sjældent (1–4%) | I 1 tilstand |
| BAP1BRCA1 associated deubiquitinase 1 | Sjældent (1–4%) | I 1 tilstand |
| CD109CD109 molecule | Sjældent (1–4%) | I 1 tilstand |
| FKRPfukutin related protein | Sjældent (1–4%) | I 2 tilstande |
| GATA1GATA binding protein 1 | Sjældent (1–4%) | I 1 tilstand |
| GMPPBGDP-mannose pyrophosphorylase B | Sjældent (1–4%) | I 1 tilstand |
| GP1BAglycoprotein Ib platelet subunit alpha | Sjældent (1–4%) | I 1 tilstand |
| GP1BBglycoprotein Ib platelet subunit beta | Sjældent (1–4%) | I 1 tilstand |
| ITGA2integrin subunit alpha 2 | Sjældent (1–4%) | I 1 tilstand |
| ITGA2Bintegrin subunit alpha 2b | Sjældent (1–4%) | I 1 tilstand |
| ITGB3integrin subunit beta 3 | Sjældent (1–4%) | I 1 tilstand |
| MTTPmicrosomal triglyceride transfer protein | Sjældent (1–4%) | I 1 tilstand |
| PANK2pantothenate kinase 2 | Sjældent (1–4%) | I 2 tilstande |
| PDGFBplatelet derived growth factor subunit B | Sjældent (1–4%) | I 1 tilstand |
| PGK1phosphoglycerate kinase 1 | Sjældent (1–4%) | I 1 tilstand |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Sjældent (1–4%) | I 1 tilstand |
| POGZpogo transposable element derived with ZNF domain | Sjældent (1–4%) | I 1 tilstand |
| POMKprotein O-mannose kinase | Sjældent (1–4%) | I 1 tilstand |
| POMT1protein O-mannosyltransferase 1 | Sjældent (1–4%) | I 2 tilstande |
| POMT2protein O-mannosyltransferase 2 | Sjældent (1–4%) | I 2 tilstande |
| PQBP1polyglutamine binding protein 1 | Sjældent (1–4%) | I 1 tilstand |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Sjældent (1–4%) | I 1 tilstand |
| SDHAF1succinate dehydrogenase complex assembly factor 1 | Sjældent (1–4%) | I 1 tilstand |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Sjældent (1–4%) | I 1 tilstand |
| SDHDsuccinate dehydrogenase complex subunit D | Sjældent (1–4%) | I 1 tilstand |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Sjældent (1–4%) | I 1 tilstand |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Sjældent (1–4%) | I 1 tilstand |
| SMOsmoothened, frizzled class receptor | Sjældent (1–4%) | I 1 tilstand |
| SUFUSUFU negative regulator of hedgehog signaling | Sjældent (1–4%) | I 1 tilstand |
| TERTtelomerase reverse transcriptase | Sjældent (1–4%) | I 1 tilstand |
| TRAF7TNF receptor associated factor 7 | Sjældent (1–4%) | I 1 tilstand |
| UFM1ubiquitin fold modifier 1 | Sjældent (1–4%) | I 1 tilstand |
| URODuroporphyrinogen decarboxylase | Sjældent (1–4%) | I 1 tilstand |
| UROSuroporphyrinogen III synthase | Sjældent (1–4%) | I 1 tilstand |
| ADAMTS10ADAM metallopeptidase with thrombospondin type 1 motif 10 | Ikke registreret | I 1 tilstand |
| AIPL1AIP like 1 HSP90 co-chaperone | Ikke registreret | I 1 tilstand |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Ikke registreret | I 1 tilstand |
| BCORBCL6 corepressor | Ikke registreret | I 1 tilstand |
| BMP4bone morphogenetic protein 4 | Ikke registreret | I 1 tilstand |
| CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin | Ikke registreret | I 1 tilstand |
| COL2A1collagen type II alpha 1 chain | Ikke registreret | I 1 tilstand |
| CTC1CST telomere replication complex component 1 | Ikke registreret | I 1 tilstand |
| FBN1fibrillin 1 | Ikke registreret | I 1 tilstand |
| FKTNfukutin | Ikke registreret | I 1 tilstand |
| FLVCR1FLVCR choline and heme transporter 1 | Ikke registreret | I 1 tilstand |
| GJB2gap junction protein beta 2 | Ikke registreret | I 1 tilstand |
| GM2Aganglioside GM2 activator | Ikke registreret | I 1 tilstand |
| GNASGNAS complex locus | Ikke registreret | I 1 tilstand |
| HEXAhexosaminidase subunit alpha | Ikke registreret | I 1 tilstand |
| HEXBhexosaminidase subunit beta | Ikke registreret | I 1 tilstand |
| HPS1HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 | Ikke registreret | I 1 tilstand |
| KIF14kinesin family member 14 | Ikke registreret | I 1 tilstand |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Ikke registreret | I 1 tilstand |
| MFSD8major facilitator superfamily domain containing 8 | Ikke registreret | I 1 tilstand |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Ikke registreret | I 1 tilstand |
| PIK3R2phosphoinositide-3-kinase regulatory subunit 2 | Ikke registreret | I 1 tilstand |
| PITX3paired like homeodomain 3 | Ikke registreret | I 1 tilstand |
| PLGplasminogen | Ikke registreret | I 1 tilstand |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Ikke registreret | I 1 tilstand |
| PPT1palmitoyl-protein thioesterase 1 | Ikke registreret | I 1 tilstand |
| PROS1protein S | Ikke registreret | I 1 tilstand |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Ikke registreret | I 1 tilstand |
| SREBF1sterol regulatory element binding transcription factor 1 | Ikke registreret | I 1 tilstand |
| TBC1D24TBC1 domain family member 24 | Ikke registreret | I 1 tilstand |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Ikke registreret | I 1 tilstand |
| TMEM67transmembrane protein 67 | 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.
Snævrere træk
Bredere træk
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