Egenskap
Retina degeneration
Klinisk navn: Retinal degeneration
A nonspecific term denoting progressive loss of the retinal pigment epithelium (RPE) and/or neurosensory retinal cells.
Sammendrag
- Kroppssystem
- Abnormality of the eye
ReferansegenomGRCh38hg38
Posisjoner på gen- og variantsidene følger dette valget i denne nettleseren.
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Få mitt Genome Test225 gener knyttet til Retina degeneration
Endringer i disse genene forårsaker sjeldne tilstander der Retina degeneration 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 |
|---|---|---|
| ARL6ARF like GTPase 6 | Alltid | I 2 tilstander |
| ARSGarylsulfatase G | Alltid | I 1 tilstand |
| BBS1Bardet-Biedl syndrome 1 | Alltid | I 2 tilstander |
| BBS9Bardet-Biedl syndrome 9 | Alltid | I 1 tilstand |
| CCDC28Bcoiled-coil domain containing 28B | Alltid | I 1 tilstand |
| CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin | Alltid | I 2 tilstander |
| FDXRferredoxin reductase | Alltid | I 1 tilstand |
| LZTFL1leucine zipper transcription factor like 1 | Alltid | I 1 tilstand |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Alltid | I 1 tilstand |
| NRLneural retina leucine zipper | Alltid | I 2 tilstander |
| PNPLA6patatin like domain 6, lysophospholipase | Alltid | I 2 tilstander |
| POMKprotein O-mannose kinase | Alltid | I 1 tilstand |
| PRPF4pre-mRNA splicing tri-snRNP complex factor PRPF4 | Alltid | I 2 tilstander |
| UBAP1Lubiquitin associated protein 1 like | 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 |
| 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 |
| BBS2Bardet-Biedl syndrome 2 | Svært ofte (80–99 %) | I 2 tilstander |
| BEST1bestrophin 1 | Svært ofte (80–99 %) | I 1 tilstand |
| CA4carbonic anhydrase 4 | Svært ofte (80–99 %) | I 1 tilstand |
| CC2D2Acoiled-coil and C2 domain containing 2A | Svært ofte (80–99 %) | I 1 tilstand |
| CDHR1cadherin related family member 1 | Svært ofte (80–99 %) | I 1 tilstand |
| CEP164centrosomal protein 164 | 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 1 tilstand |
| 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 1 tilstand |
| CWC27CWC27 spliceosome associated cyclophilin | Svært ofte (80–99 %) | I 2 tilstander |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Svært ofte (80–99 %) | I 2 tilstander |
| DHX38DEAH-box helicase 38 | Svært ofte (80–99 %) | I 1 tilstand |
| EYSEGF-like photoreceptor maintenance factor | Svært ofte (80–99 %) | I 1 tilstand |
Vis 185 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| FAM161AFAM161 centrosomal protein A | 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 |
| 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 |
| IFT140intraflagellar transport 140 | 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 2 tilstander |
| MAKmale germ cell associated kinase | Svært ofte (80–99 %) | I 1 tilstand |
| MERTKMER proto-oncogene, tyrosine kinase | Svært ofte (80–99 %) | I 1 tilstand |
| 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 |
| OFD1OFD1 centriole and centriolar satellite protein | 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 1 tilstand |
| PRPF6pre-mRNA processing factor 6 | Svært ofte (80–99 %) | I 1 tilstand |
| PRPF8pre-mRNA processing factor 8 | Svært ofte (80–99 %) | I 2 tilstander |
| PRPH2peripherin 2 | Svært ofte (80–99 %) | I 2 tilstander |
| 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 1 tilstand |
| RLBP1retinaldehyde binding protein 1 | Svært ofte (80–99 %) | I 2 tilstander |
| RNU4-2RNA, U4 small nuclear 2 | Svært ofte (80–99 %) | I 1 tilstand |
| 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 |
| RPGRIP1RPGR interacting protein 1 | 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 1 tilstand |
| SEMA4Asemaphorin 4A | Svært ofte (80–99 %) | I 1 tilstand |
| 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 2 tilstander |
| TMEM216transmembrane protein 216 | Svært ofte (80–99 %) | I 1 tilstand |
| 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 1 tilstand |
| TUBTUB bipartite transcription factor | Svært ofte (80–99 %) | I 1 tilstand |
| TULP1TUB like protein 1 | Svært ofte (80–99 %) | I 2 tilstander |
| USH2Ausherin | Svært ofte (80–99 %) | I 1 tilstand |
| WRNWRN RecQ like helicase | Svært ofte (80–99 %) | I 1 tilstand |
| ZNF408zinc finger protein 408 | Svært ofte (80–99 %) | I 1 tilstand |
| ZNF513zinc finger protein 513 | Svært ofte (80–99 %) | I 1 tilstand |
| ALMS1ALMS1 centrosome and basal body associated protein | Ofte (30–79 %) | I 1 tilstand |
| CABP4calcium binding protein 4 | Ofte (30–79 %) | I 1 tilstand |
| CPceruloplasmin | Ofte (30–79 %) | I 2 tilstander |
| DLATdihydrolipoamide S-acetyltransferase | Ofte (30–79 %) | I 1 tilstand |
| KCNJ13potassium inwardly rectifying channel subfamily J member 13 | Ofte (30–79 %) | I 1 tilstand |
| LCA5lebercilin LCA5 | Ofte (30–79 %) | I 1 tilstand |
| LMNAlamin A/C | Ofte (30–79 %) | I 1 tilstand |
| MMACHCmetabolism of cobalamin associated C | Ofte (30–79 %) | I 1 tilstand |
| MRPL39mitochondrial ribosomal protein L39 | Ofte (30–79 %) | I 1 tilstand |
| NEK8NIMA related kinase 8 | Ofte (30–79 %) | I 1 tilstand |
| OPA1OPA1 mitochondrial dynamin like GTPase | Ofte (30–79 %) | I 1 tilstand |
| OTX2orthodenticle homeobox 2 | Ofte (30–79 %) | I 1 tilstand |
| ZFYVE26zinc finger FYVE-type containing 26 | Ofte (30–79 %) | I 1 tilstand |
| AARS1alanyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 2 tilstander |
| CARS1cysteinyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DBR1debranching RNA lariats 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Noen ganger (5–29 %) | I 1 tilstand |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Noen ganger (5–29 %) | I 1 tilstand |
| GNB5G protein subunit beta 5 | Noen ganger (5–29 %) | I 2 tilstander |
| GTF2E2general transcription factor IIE subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| GTF2H5general transcription factor IIH subunit 5 | Noen ganger (5–29 %) | I 1 tilstand |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Noen ganger (5–29 %) | I 2 tilstander |
| IDUAalpha-L-iduronidase | Noen ganger (5–29 %) | I 2 tilstander |
| MPLKIPM-phase specific PLK1 interacting protein | Noen ganger (5–29 %) | I 1 tilstand |
| RNF113Aring finger protein 113A | Noen ganger (5–29 %) | I 1 tilstand |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Noen ganger (5–29 %) | I 2 tilstander |
| TARS1threonyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TMEM67transmembrane protein 67 | Noen ganger (5–29 %) | I 2 tilstander |
| TNFRSF11BTNF receptor superfamily member 11b | Noen ganger (5–29 %) | I 1 tilstand |
| WWOXWW domain containing oxidoreductase | Noen ganger (5–29 %) | I 2 tilstander |
| ZNF423zinc finger protein 423 | Noen ganger (5–29 %) | I 1 tilstand |
| ACTL6Bactin like 6B | Sjelden (1–4%) | I 1 tilstand |
| ALG6ALG6 alpha-1,3-glucosyltransferase | Sjelden (1–4%) | I 1 tilstand |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Sjelden (1–4%) | I 1 tilstand |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Sjelden (1–4%) | I 1 tilstand |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Sjelden (1–4%) | I 1 tilstand |
| ATP6V1AATPase H+ transporting V1 subunit A | Sjelden (1–4%) | I 1 tilstand |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Sjelden (1–4%) | I 1 tilstand |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Sjelden (1–4%) | I 1 tilstand |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Sjelden (1–4%) | I 1 tilstand |
| CDK19cyclin dependent kinase 19 | Sjelden (1–4%) | I 1 tilstand |
| CELF2CUGBP Elav-like family member 2 | Sjelden (1–4%) | I 1 tilstand |
| CLTCclathrin heavy chain | Sjelden (1–4%) | I 1 tilstand |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Sjelden (1–4%) | I 1 tilstand |
| COL4A3collagen type IV alpha 3 chain | Sjelden (1–4%) | I 1 tilstand |
| COL4A4collagen type IV alpha 4 chain | Sjelden (1–4%) | I 1 tilstand |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Sjelden (1–4%) | I 1 tilstand |
| DALRD3DALR anticodon binding domain containing 3 | Sjelden (1–4%) | I 1 tilstand |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Sjelden (1–4%) | I 1 tilstand |
| DNM1dynamin 1 | Sjelden (1–4%) | I 1 tilstand |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Sjelden (1–4%) | I 1 tilstand |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Sjelden (1–4%) | I 1 tilstand |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Sjelden (1–4%) | I 1 tilstand |
| FBXO28F-box protein 28 | Sjelden (1–4%) | I 1 tilstand |
| FGF12fibroblast growth factor 12 | Sjelden (1–4%) | I 1 tilstand |
| FOXG1forkhead box G1 | Sjelden (1–4%) | I 1 tilstand |
| FZR1fizzy and cell division cycle 20 related 1 | Sjelden (1–4%) | I 1 tilstand |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Sjelden (1–4%) | I 1 tilstand |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Sjelden (1–4%) | I 1 tilstand |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Sjelden (1–4%) | I 1 tilstand |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Sjelden (1–4%) | I 1 tilstand |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Sjelden (1–4%) | I 1 tilstand |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Sjelden (1–4%) | I 1 tilstand |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Sjelden (1–4%) | I 1 tilstand |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Sjelden (1–4%) | I 1 tilstand |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Sjelden (1–4%) | I 1 tilstand |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Sjelden (1–4%) | I 1 tilstand |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Sjelden (1–4%) | I 1 tilstand |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Sjelden (1–4%) | I 1 tilstand |
| NECAP1NECAP endocytosis associated 1 | Sjelden (1–4%) | I 1 tilstand |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Sjelden (1–4%) | I 1 tilstand |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Sjelden (1–4%) | I 1 tilstand |
| PACS2phosphofurin acidic cluster sorting protein 2 | Sjelden (1–4%) | I 1 tilstand |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Sjelden (1–4%) | I 1 tilstand |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Sjelden (1–4%) | I 1 tilstand |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Sjelden (1–4%) | I 1 tilstand |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Sjelden (1–4%) | I 1 tilstand |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Sjelden (1–4%) | I 1 tilstand |
| SLC13A5solute carrier family 13 member 5 | Sjelden (1–4%) | I 1 tilstand |
| SLC1A2solute carrier family 1 member 2 | Sjelden (1–4%) | I 1 tilstand |
| SLC38A3solute carrier family 38 member 3 | Sjelden (1–4%) | I 1 tilstand |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Sjelden (1–4%) | I 1 tilstand |
| SYNJ1synaptojanin 1 | Sjelden (1–4%) | I 1 tilstand |
| SZT2SZT2 subunit of KICSTOR complex | Sjelden (1–4%) | I 1 tilstand |
| TRAK1trafficking kinesin protein 1 | Sjelden (1–4%) | I 1 tilstand |
| UBA5ubiquitin like modifier activating enzyme 5 | Sjelden (1–4%) | I 1 tilstand |
| UFSP2UFM1 specific peptidase 2 | Sjelden (1–4%) | I 1 tilstand |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Sjelden (1–4%) | I 1 tilstand |
| APOBapolipoprotein B | Ikke registrert | I 1 tilstand |
| BBS4Bardet-Biedl syndrome 4 | Ikke registrert | I 1 tilstand |
| C1QTNF5C1q and TNF related 5 | Ikke registrert | I 1 tilstand |
| CFAP410cilia and flagella associated protein 410 | Ikke registrert | I 1 tilstand |
| CLCC1chloride channel CLIC like 1 | Ikke registrert | I 1 tilstand |
| CLN5CLN5 lysosomal BMP synthase | Ikke registrert | I 1 tilstand |
| CLN6CLN6 transmembrane ER protein | Ikke registrert | I 1 tilstand |
| CTNNB1catenin beta 1 | Ikke registrert | I 1 tilstand |
| CYP4V2cytochrome P450 family 4 subfamily V member 2 | Ikke registrert | I 1 tilstand |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Ikke registrert | I 1 tilstand |
| MAB21L1mab-21 like 1 | Ikke registrert | I 1 tilstand |
| MAN2B1mannosidase alpha class 2B member 1 | Ikke registrert | I 1 tilstand |
| MCOLN1mucolipin TRP cation channel 1 | Ikke registrert | I 1 tilstand |
| MTTPmicrosomal triglyceride transfer protein | Ikke registrert | I 1 tilstand |
| PANK2pantothenate kinase 2 | Ikke registrert | I 1 tilstand |
| PEX7peroxisomal biogenesis factor 7 | Ikke registrert | I 1 tilstand |
| PHYHphytanoyl-CoA 2-hydroxylase | Ikke registrert | I 1 tilstand |
| PISDphosphatidylserine decarboxylase | Ikke registrert | I 1 tilstand |
| PPT1palmitoyl-protein thioesterase 1 | Ikke registrert | I 1 tilstand |
| RS1retinoschisin 1 | Ikke registrert | I 1 tilstand |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Ikke registrert | I 2 tilstander |
| SLC19A2solute carrier family 19 member 2 | Ikke registrert | I 1 tilstand |
| SUMF1sulfatase modifying factor 1 | Ikke registrert | I 1 tilstand |
| TPP1tripeptidyl peptidase 1 | Ikke registrert | I 1 tilstand |
| TUBB4Btubulin beta 4B class IVb | Ikke registrert | I 1 tilstand |
| USP45ubiquitin specific peptidase 45 | 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.
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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.
Fra 449 $Gratis frakt · Resultater på 6–8 uker