Egenskap
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.
Sammendrag
- Også kalt
- Legal blindness, Total vision loss
- Kroppssystem
- Abnormality of the eye
ReferansegenomGRCh38hg38
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Endringer i disse genene forårsaker sjeldne tilstander der Blindness forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Alltid | I 1 tilstand |
| ARNT2aryl hydrocarbon receptor nuclear translocator 2 | Alltid | I 1 tilstand |
| ASNSasparagine synthetase (glutamine-hydrolyzing) | Alltid | I 1 tilstand |
| CAPN5calpain 5 | Alltid | I 1 tilstand |
| EIF4A2eukaryotic translation initiation factor 4A2 | Alltid | I 1 tilstand |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Alltid | I 1 tilstand |
| FDXRferredoxin reductase | Alltid | I 2 tilstander |
| GTPBP2GTP binding protein 2 | Alltid | I 1 tilstand |
| IFT140intraflagellar transport 140 | Alltid | I 3 tilstander |
| KLC4kinesin light chain 4 | Alltid | I 1 tilstand |
| LRP5LDL receptor related protein 5 | Alltid | I 5 tilstander |
| MED16mediator complex subunit 16 | Alltid | I 1 tilstand |
| NDC1NDC1 transmembrane nucleoporin | Alltid | I 1 tilstand |
| NDUFV1NADH:ubiquinone oxidoreductase core subunit V1 | Alltid | I 2 tilstander |
| NHEJ1non-homologous end joining factor 1 | Alltid | I 1 tilstand |
| ABCA4ATP binding cassette subfamily A member 4 | Svært ofte (80–99 %) | I 1 tilstand |
| AGBL5AGBL carboxypeptidase 5 | Svært ofte (80–99 %) | I 1 tilstand |
| AHI1Abelson helper integration site 1 | Svært ofte (80–99 %) | I 1 tilstand |
| AHRaryl hydrocarbon receptor | Svært ofte (80–99 %) | I 1 tilstand |
| ALMS1ALMS1 centrosome and basal body associated protein | Svært ofte (80–99 %) | I 2 tilstander |
| ARHGEF18Rho/Rac guanine nucleotide exchange factor 18 | Svært ofte (80–99 %) | I 1 tilstand |
| ARL2BPARF like GTPase 2 binding protein | Svært ofte (80–99 %) | I 1 tilstand |
| ARL3ARF like GTPase 3 | Svært ofte (80–99 %) | I 1 tilstand |
| ARL6ARF like GTPase 6 | Svært ofte (80–99 %) | I 2 tilstander |
| BBS1Bardet-Biedl syndrome 1 | Svært ofte (80–99 %) | I 2 tilstander |
| BBS2Bardet-Biedl syndrome 2 | Svært ofte (80–99 %) | I 2 tilstander |
| BEST1bestrophin 1 | Svært ofte (80–99 %) | I 2 tilstander |
| CA4carbonic anhydrase 4 | Svært ofte (80–99 %) | I 1 tilstand |
| CC2D2Acoiled-coil and C2 domain containing 2A | Svært ofte (80–99 %) | I 2 tilstander |
| CDH3cadherin 3 | Svært ofte (80–99 %) | I 2 tilstander |
| CDHR1cadherin related family member 1 | Svært ofte (80–99 %) | I 1 tilstand |
| CERKLCERK like autophagy regulator | Svært ofte (80–99 %) | I 1 tilstand |
| CFAP20cilia and flagella associated protein 20 | Svært ofte (80–99 %) | I 1 tilstand |
| CFAP418cilia and flagella associated protein 418 | Svært ofte (80–99 %) | I 3 tilstander |
| CLRN1clarin 1 | Svært ofte (80–99 %) | I 1 tilstand |
| CNGA1cyclic nucleotide gated channel subunit alpha 1 | Svært ofte (80–99 %) | I 1 tilstand |
| CNGB1cyclic nucleotide gated channel subunit beta 1 | Svært ofte (80–99 %) | I 1 tilstand |
| COQ8Bcoenzyme Q8B | Svært ofte (80–99 %) | I 1 tilstand |
| CRB1crumbs cell polarity complex component 1 | Svært ofte (80–99 %) | I 1 tilstand |
| CRXcone-rod homeobox | Svært ofte (80–99 %) | I 2 tilstander |
Vis 271 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| DHDDSdehydrodolichyl diphosphate synthase subunit | Svært ofte (80–99 %) | I 1 tilstand |
| DHX38DEAH-box helicase 38 | Svært ofte (80–99 %) | I 1 tilstand |
| EYSEGF-like photoreceptor maintenance factor | Svært ofte (80–99 %) | I 1 tilstand |
| FAM161AFAM161 centrosomal protein A | Svært ofte (80–99 %) | I 1 tilstand |
| FRAS1Fraser extracellular matrix complex subunit 1 | Svært ofte (80–99 %) | I 2 tilstander |
| FREM2FRAS1 related extracellular matrix 2 | Svært ofte (80–99 %) | I 1 tilstand |
| FSCN2fascin actin-bundling protein 2, retinal | Svært ofte (80–99 %) | I 1 tilstand |
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Svært ofte (80–99 %) | I 1 tilstand |
| GLB1galactosidase beta 1 | Svært ofte (80–99 %) | I 1 tilstand |
| GRIP1glutamate receptor interacting protein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| GUCA1Bguanylate cyclase activator 1B | Svært ofte (80–99 %) | I 1 tilstand |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Svært ofte (80–99 %) | I 1 tilstand |
| HKDC1hexokinase domain containing 1 | Svært ofte (80–99 %) | I 1 tilstand |
| IDH3Aisocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha | Svært ofte (80–99 %) | I 1 tilstand |
| IDH3Bisocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | Svært ofte (80–99 %) | I 1 tilstand |
| IFT172intraflagellar transport 172 | Svært ofte (80–99 %) | I 2 tilstander |
| IFT43intraflagellar transport 43 | Svært ofte (80–99 %) | I 1 tilstand |
| IFT88intraflagellar transport 88 | Svært ofte (80–99 %) | I 1 tilstand |
| IMPDH1inosine monophosphate dehydrogenase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| IMPG1interphotoreceptor matrix proteoglycan 1 | Svært ofte (80–99 %) | I 1 tilstand |
| IMPG2interphotoreceptor matrix proteoglycan 2 | Svært ofte (80–99 %) | I 1 tilstand |
| KIAA1549KIAA1549 | Svært ofte (80–99 %) | I 1 tilstand |
| KIZkizuna centrosomal protein | Svært ofte (80–99 %) | I 1 tilstand |
| KLHL7kelch like family member 7 | Svært ofte (80–99 %) | I 1 tilstand |
| LRATlecithin retinol acyltransferase | Svært ofte (80–99 %) | I 1 tilstand |
| MAKmale germ cell associated kinase | Svært ofte (80–99 %) | I 1 tilstand |
| MERTKMER proto-oncogene, tyrosine kinase | Svært ofte (80–99 %) | I 1 tilstand |
| NDE1nudE neurodevelopment protein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| NDPnorrin cystine knot growth factor NDP | Svært ofte (80–99 %) | I 5 tilstander |
| NEK2NIMA related kinase 2 | Svært ofte (80–99 %) | I 1 tilstand |
| NR2E3nuclear receptor subfamily 2 group E member 3 | Svært ofte (80–99 %) | I 1 tilstand |
| NRLneural retina leucine zipper | Svært ofte (80–99 %) | I 2 tilstander |
| OFD1OFD1 centriole and centriolar satellite protein | Svært ofte (80–99 %) | I 1 tilstand |
| OTX2orthodenticle homeobox 2 | Svært ofte (80–99 %) | I 1 tilstand |
| PCAREphotoreceptor cilium actin regulator | Svært ofte (80–99 %) | I 1 tilstand |
| PDE6Aphosphodiesterase 6A | Svært ofte (80–99 %) | I 1 tilstand |
| PDE6Bphosphodiesterase 6B | Svært ofte (80–99 %) | I 1 tilstand |
| PDE6Gphosphodiesterase 6G | Svært ofte (80–99 %) | I 1 tilstand |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Svært ofte (80–99 %) | I 2 tilstander |
| PRCDphotoreceptor disc component | Svært ofte (80–99 %) | I 1 tilstand |
| PROM1prominin 1 | Svært ofte (80–99 %) | I 1 tilstand |
| PRPF3pre-mRNA processing factor 3 | Svært ofte (80–99 %) | I 1 tilstand |
| PRPF31pre-mRNA processing factor 31 | Svært ofte (80–99 %) | I 2 tilstander |
| PRPF4pre-mRNA splicing tri-snRNP complex factor PRPF4 | Svært ofte (80–99 %) | I 1 tilstand |
| PRPF6pre-mRNA processing factor 6 | Svært ofte (80–99 %) | I 1 tilstand |
| PRPF8pre-mRNA processing factor 8 | Svært ofte (80–99 %) | I 1 tilstand |
| PRPH2peripherin 2 | Svært ofte (80–99 %) | I 1 tilstand |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| RBP3retinol binding protein 3 | Svært ofte (80–99 %) | I 1 tilstand |
| RDH12retinol dehydrogenase 12 | Svært ofte (80–99 %) | I 1 tilstand |
| REEP6receptor accessory protein 6 | Svært ofte (80–99 %) | I 1 tilstand |
| RGRretinal G protein coupled receptor | Svært ofte (80–99 %) | I 1 tilstand |
| RHOrhodopsin | Svært ofte (80–99 %) | I 2 tilstander |
| RLBP1retinaldehyde binding protein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| RNU4-2RNA, U4 small nuclear 2 | Svært ofte (80–99 %) | I 2 tilstander |
| RNU6-1RNA, U6 small nuclear 1 | Svært ofte (80–99 %) | I 1 tilstand |
| RNU6-2RNA, U6 small nuclear 2 | Svært ofte (80–99 %) | I 1 tilstand |
| RNU6-8RNA, U6 small nuclear 8 | Svært ofte (80–99 %) | I 1 tilstand |
| RNU6-9RNA, U6 small nuclear 9 | Svært ofte (80–99 %) | I 1 tilstand |
| ROM1retinal outer segment membrane protein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| RP1RP1 axonemal microtubule associated | Svært ofte (80–99 %) | I 1 tilstand |
| RP1L1RP1 like 1 | Svært ofte (80–99 %) | I 1 tilstand |
| RP2RP2 activator of ARL3 GTPase | Svært ofte (80–99 %) | I 1 tilstand |
| RP9RP9 pre-mRNA splicing factor | Svært ofte (80–99 %) | I 1 tilstand |
| RPE65retinoid isomerohydrolase RPE65 | Svært ofte (80–99 %) | I 2 tilstander |
| RPGRretinitis pigmentosa GTPase regulator | Svært ofte (80–99 %) | I 1 tilstand |
| SAGS-antigen visual arrestin | Svært ofte (80–99 %) | I 1 tilstand |
| SAXO6stabilizer of axonemal microtubules 6 | Svært ofte (80–99 %) | I 1 tilstand |
| SCAPERS-phase cyclin A associated protein in the ER | Svært ofte (80–99 %) | I 2 tilstander |
| SEMA4Asemaphorin 4A | Svært ofte (80–99 %) | I 2 tilstander |
| SLC7A14solute carrier family 7 member 14 | Svært ofte (80–99 %) | I 1 tilstand |
| SNRNP200small nuclear ribonucleoprotein U5 subunit 200 | Svært ofte (80–99 %) | I 1 tilstand |
| SPATA7spermatogenesis associated 7 | Svært ofte (80–99 %) | I 1 tilstand |
| TMEM216transmembrane protein 216 | Svært ofte (80–99 %) | I 2 tilstander |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Svært ofte (80–99 %) | I 1 tilstand |
| TTC8tetratricopeptide repeat domain 8 | Svært ofte (80–99 %) | I 2 tilstander |
| TUBTUB bipartite transcription factor | Svært ofte (80–99 %) | I 1 tilstand |
| TULP1TUB like protein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| USH2Ausherin | Svært ofte (80–99 %) | I 1 tilstand |
| ZNF408zinc finger protein 408 | Svært ofte (80–99 %) | I 2 tilstander |
| ZNF513zinc finger protein 513 | Svært 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 tilstander |
| 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 tilstander |
| NPHP1nephrocystin 1 | Ofte (30–79 %) | I 1 tilstand |
| OATornithine aminotransferase | Ofte (30–79 %) | I 2 tilstander |
| PEX6peroxisomal biogenesis factor 6 | Ofte (30–79 %) | I 1 tilstand |
| RBMXRNA binding motif protein X-linked | Ofte (30–79 %) | I 2 tilstander |
| 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 | Noen ganger (5–29 %) | I 1 tilstand |
| ASPAaspartoacylase | Noen ganger (5–29 %) | I 2 tilstander |
| ATOH7atonal bHLH transcription factor 7 | Noen ganger (5–29 %) | I 1 tilstand |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Noen ganger (5–29 %) | I 1 tilstand |
| ATP5F1AATP synthase F1 subunit alpha | Noen ganger (5–29 %) | I 1 tilstand |
| ATP5F1DATP synthase F1 subunit delta | Noen ganger (5–29 %) | I 1 tilstand |
| ATP5F1EATP synthase F1 subunit epsilon | Noen ganger (5–29 %) | I 1 tilstand |
| ATP5MKATP synthase membrane subunit k | Noen ganger (5–29 %) | I 1 tilstand |
| ATP5POATP synthase peripheral stalk subunit OSCP | Noen ganger (5–29 %) | I 1 tilstand |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ATRXATRX chromatin remodeler | Noen ganger (5–29 %) | I 1 tilstand |
| ATXN7ataxin 7 | Noen ganger (5–29 %) | I 1 tilstand |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| BTNL2butyrophilin like 2 | Noen ganger (5–29 %) | I 1 tilstand |
| C4Acomplement C4A (Chido/Rodgers blood group) | Noen ganger (5–29 %) | I 1 tilstand |
| CCR1C-C motif chemokine receptor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CDH23cadherin related 23 | Noen ganger (5–29 %) | I 2 tilstander |
| CEP164centrosomal protein 164 | Noen ganger (5–29 %) | I 1 tilstand |
| CLCN7Cl-/H+ antiporter 7 | Noen ganger (5–29 %) | I 1 tilstand |
| COX7Bcytochrome c oxidase subunit 7B | Noen ganger (5–29 %) | I 1 tilstand |
| CREBBPCREB binding lysine acetyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| CTNNB1catenin beta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CYP4V2cytochrome P450 family 4 subfamily V member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| EIF2B1eukaryotic translation initiation factor 2B subunit alpha | Noen ganger (5–29 %) | I 1 tilstand |
| ERAP1endoplasmic reticulum aminopeptidase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| FASFas cell surface death receptor | Noen ganger (5–29 %) | I 1 tilstand |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Noen ganger (5–29 %) | I 1 tilstand |
| FZD4frizzled class receptor 4 | Noen ganger (5–29 %) | I 4 tilstander |
| GALCgalactosylceramidase | Noen ganger (5–29 %) | I 3 tilstander |
| GNAQG protein subunit alpha q | Noen ganger (5–29 %) | I 1 tilstand |
| HCCSholocytochrome c synthase | Noen ganger (5–29 %) | I 1 tilstand |
| HLA-Bmajor histocompatibility complex, class I, B | Noen ganger (5–29 %) | I 1 tilstand |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| IFNGR1interferon gamma receptor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| IL10interleukin 10 | Noen ganger (5–29 %) | I 1 tilstand |
| IL12Ainterleukin 12A | Noen ganger (5–29 %) | I 1 tilstand |
| IL12A-AS1IL12A antisense RNA 1 | Noen ganger (5–29 %) | I 1 tilstand |
| IL23Rinterleukin 23 receptor | Noen ganger (5–29 %) | I 1 tilstand |
| KIF11kinesin family member 11 | Noen ganger (5–29 %) | I 1 tilstand |
| KLRC4killer cell lectin like receptor C4 | Noen ganger (5–29 %) | I 1 tilstand |
| LAMB2laminin subunit beta 2 | Noen ganger (5–29 %) | I 1 tilstand |
| LONP1lon peptidase 1, mitochondrial | Noen ganger (5–29 %) | I 1 tilstand |
| MEFVMEFV innate immunity regulator, pyrin | Noen ganger (5–29 %) | I 1 tilstand |
| MEN1menin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Noen ganger (5–29 %) | I 1 tilstand |
| MTR5-methyltetrahydrofolate-homocysteine methyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| MTRR5-methyltetrahydrofolate-homocysteine methyltransferase reductase | Noen ganger (5–29 %) | I 1 tilstand |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Noen ganger (5–29 %) | I 1 tilstand |
| NDUFA11NADH:ubiquinone oxidoreductase subunit A11 | Noen ganger (5–29 %) | I 1 tilstand |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Noen ganger (5–29 %) | I 1 tilstand |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Noen ganger (5–29 %) | I 1 tilstand |
| NDUFAF1NADH:ubiquinone oxidoreductase complex assembly factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| NDUFAF3NADH:ubiquinone oxidoreductase complex assembly factor 3 | Noen ganger (5–29 %) | I 1 tilstand |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Noen ganger (5–29 %) | I 1 tilstand |
| NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5 | Noen ganger (5–29 %) | I 1 tilstand |
| NDUFAF8NADH:ubiquinone oxidoreductase complex assembly factor 8 | Noen ganger (5–29 %) | I 1 tilstand |
| NDUFB10NADH:ubiquinone oxidoreductase subunit B10 | Noen ganger (5–29 %) | I 1 tilstand |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Noen ganger (5–29 %) | I 2 tilstander |
| NDUFB3NADH:ubiquinone oxidoreductase subunit B3 | Noen ganger (5–29 %) | I 1 tilstand |
| NDUFB9NADH:ubiquinone oxidoreductase subunit B9 | Noen ganger (5–29 %) | I 1 tilstand |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Noen ganger (5–29 %) | I 1 tilstand |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Noen ganger (5–29 %) | I 1 tilstand |
| NDUFS3NADH:ubiquinone oxidoreductase core subunit S3 | Noen ganger (5–29 %) | I 1 tilstand |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Noen ganger (5–29 %) | I 2 tilstander |
| NDUFS6NADH:ubiquinone oxidoreductase subunit S6 | Noen ganger (5–29 %) | I 1 tilstand |
| NDUFS7NADH:ubiquinone oxidoreductase core subunit S7 | Noen ganger (5–29 %) | I 1 tilstand |
| NDUFS8NADH:ubiquinone oxidoreductase core subunit S8 | Noen ganger (5–29 %) | I 1 tilstand |
| NDUFV2NADH:ubiquinone oxidoreductase core subunit V2 | Noen ganger (5–29 %) | I 1 tilstand |
| NF1neurofibromin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NF2NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | Noen ganger (5–29 %) | I 2 tilstander |
| NLRP3NLR family pyrin domain containing 3 | Noen ganger (5–29 %) | I 1 tilstand |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Noen ganger (5–29 %) | I 1 tilstand |
| OPA1OPA1 mitochondrial dynamin like GTPase | Noen ganger (5–29 %) | I 1 tilstand |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Noen ganger (5–29 %) | I 1 tilstand |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PLA2G6phospholipase A2 group VI | Noen ganger (5–29 %) | I 1 tilstand |
| POLGDNA polymerase gamma, catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| PSAPprosaposin | Noen ganger (5–29 %) | I 1 tilstand |
| STAT4signal transducer and activator of transcription 4 | Noen ganger (5–29 %) | I 1 tilstand |
| TIMMDC1translocase of inner mitochondrial membrane domain containing 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TIMP3TIMP metallopeptidase inhibitor 3 | Noen ganger (5–29 %) | I 2 tilstander |
| TLR4toll like receptor 4 | Noen ganger (5–29 %) | I 1 tilstand |
| TM2D3TM2 domain containing 3 | Noen ganger (5–29 %) | I 1 tilstand |
| TMEM126Btransmembrane protein 126B | Noen ganger (5–29 %) | I 1 tilstand |
| TNFSF11TNF superfamily member 11 | Noen ganger (5–29 %) | I 1 tilstand |
| TSPAN12tetraspanin 12 | Noen ganger (5–29 %) | I 1 tilstand |
| UBAC2UBA domain containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ABCD1ATP binding cassette subfamily D member 1 | Sjelden (1–4%) | I 2 tilstander |
| AKT1AKT serine/threonine kinase 1 | Sjelden (1–4%) | I 1 tilstand |
| BAP1BRCA1 associated deubiquitinase 1 | Sjelden (1–4%) | I 1 tilstand |
| CD109CD109 molecule | Sjelden (1–4%) | I 1 tilstand |
| FKRPfukutin related protein | Sjelden (1–4%) | I 2 tilstander |
| GATA1GATA binding protein 1 | Sjelden (1–4%) | I 1 tilstand |
| GMPPBGDP-mannose pyrophosphorylase B | Sjelden (1–4%) | I 1 tilstand |
| GP1BAglycoprotein Ib platelet subunit alpha | Sjelden (1–4%) | I 1 tilstand |
| GP1BBglycoprotein Ib platelet subunit beta | Sjelden (1–4%) | I 1 tilstand |
| ITGA2integrin subunit alpha 2 | Sjelden (1–4%) | I 1 tilstand |
| ITGA2Bintegrin subunit alpha 2b | Sjelden (1–4%) | I 1 tilstand |
| ITGB3integrin subunit beta 3 | Sjelden (1–4%) | I 1 tilstand |
| MTTPmicrosomal triglyceride transfer protein | Sjelden (1–4%) | I 1 tilstand |
| PANK2pantothenate kinase 2 | Sjelden (1–4%) | I 2 tilstander |
| PDGFBplatelet derived growth factor subunit B | Sjelden (1–4%) | I 1 tilstand |
| PGK1phosphoglycerate kinase 1 | Sjelden (1–4%) | I 1 tilstand |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Sjelden (1–4%) | I 1 tilstand |
| POGZpogo transposable element derived with ZNF domain | Sjelden (1–4%) | I 1 tilstand |
| POMKprotein O-mannose kinase | Sjelden (1–4%) | I 1 tilstand |
| POMT1protein O-mannosyltransferase 1 | Sjelden (1–4%) | I 2 tilstander |
| POMT2protein O-mannosyltransferase 2 | Sjelden (1–4%) | I 2 tilstander |
| PQBP1polyglutamine binding protein 1 | Sjelden (1–4%) | I 1 tilstand |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Sjelden (1–4%) | I 1 tilstand |
| SDHAF1succinate dehydrogenase complex assembly factor 1 | Sjelden (1–4%) | I 1 tilstand |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Sjelden (1–4%) | I 1 tilstand |
| SDHDsuccinate dehydrogenase complex subunit D | Sjelden (1–4%) | I 1 tilstand |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Sjelden (1–4%) | I 1 tilstand |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Sjelden (1–4%) | I 1 tilstand |
| SMOsmoothened, frizzled class receptor | Sjelden (1–4%) | I 1 tilstand |
| SUFUSUFU negative regulator of hedgehog signaling | Sjelden (1–4%) | I 1 tilstand |
| TERTtelomerase reverse transcriptase | Sjelden (1–4%) | I 1 tilstand |
| TRAF7TNF receptor associated factor 7 | Sjelden (1–4%) | I 1 tilstand |
| UFM1ubiquitin fold modifier 1 | Sjelden (1–4%) | I 1 tilstand |
| URODuroporphyrinogen decarboxylase | Sjelden (1–4%) | I 1 tilstand |
| UROSuroporphyrinogen III synthase | Sjelden (1–4%) | I 1 tilstand |
| ADAMTS10ADAM metallopeptidase with thrombospondin type 1 motif 10 | Ikke registrert | I 1 tilstand |
| AIPL1AIP like 1 HSP90 co-chaperone | Ikke registrert | I 1 tilstand |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Ikke registrert | I 1 tilstand |
| BCORBCL6 corepressor | Ikke registrert | I 1 tilstand |
| BMP4bone morphogenetic protein 4 | Ikke registrert | I 1 tilstand |
| CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin | Ikke registrert | I 1 tilstand |
| COL2A1collagen type II alpha 1 chain | Ikke registrert | I 1 tilstand |
| CTC1CST telomere replication complex component 1 | Ikke registrert | I 1 tilstand |
| FBN1fibrillin 1 | Ikke registrert | I 1 tilstand |
| FKTNfukutin | Ikke registrert | I 1 tilstand |
| FLVCR1FLVCR choline and heme transporter 1 | Ikke registrert | I 1 tilstand |
| GJB2gap junction protein beta 2 | Ikke registrert | I 1 tilstand |
| GM2Aganglioside GM2 activator | Ikke registrert | I 1 tilstand |
| GNASGNAS complex locus | Ikke registrert | I 1 tilstand |
| HEXAhexosaminidase subunit alpha | Ikke registrert | I 1 tilstand |
| HEXBhexosaminidase subunit beta | Ikke registrert | I 1 tilstand |
| HPS1HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 | Ikke registrert | I 1 tilstand |
| KIF14kinesin family member 14 | Ikke registrert | I 1 tilstand |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Ikke registrert | I 1 tilstand |
| MFSD8major facilitator superfamily domain containing 8 | Ikke registrert | I 1 tilstand |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Ikke registrert | I 1 tilstand |
| PIK3R2phosphoinositide-3-kinase regulatory subunit 2 | Ikke registrert | I 1 tilstand |
| PITX3paired like homeodomain 3 | Ikke registrert | I 1 tilstand |
| PLGplasminogen | Ikke registrert | I 1 tilstand |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Ikke registrert | I 1 tilstand |
| PPT1palmitoyl-protein thioesterase 1 | Ikke registrert | I 1 tilstand |
| PROS1protein S | Ikke registrert | I 1 tilstand |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Ikke registrert | I 1 tilstand |
| SREBF1sterol regulatory element binding transcription factor 1 | Ikke registrert | I 1 tilstand |
| TBC1D24TBC1 domain family member 24 | Ikke registrert | I 1 tilstand |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Ikke registrert | I 1 tilstand |
| TMEM67transmembrane protein 67 | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
Smalere egenskaper
Bredere egenskaper
Slik er informasjonen samlet
- Human Phenotype Ontology, versjon 2026-09-01: egenskapen, navnene på den, definisjonen og genene som er knyttet til den. Les mer på hpo.jax.org.
- Datautgave 2026.10.16-c6eea6bf.
Én test. En livstid med svar.
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