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Træk
Respiratory failure
A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits.
Resumé
- Kropssystem
- Abnormality of the respiratory system
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Denne side som data
Tilføj .json til sidens adresse, eller bed om application/json, for at læse den som JSON.
library(jsonlite)
url <- "https://dantelabs.com/traits/respiratory-failure.json"
page <- fromJSON(url)
page$trait$nameRespiratory failureHP:0002878
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Læs de gener, der er knyttet til Respiratory failure, og resten af dit genom, med én test.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger
Bestil min Genome Test272 gener knyttet til Respiratory failure
Ændringer i disse gener forårsager sjældne tilstande, hvor Respiratory failure 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 |
|---|---|---|
| ACTA1actin alpha 1, skeletal muscle | Altid | I 4 tilstande |
| AMTaminomethyltransferase | Altid | I 1 tilstand |
| ATAD1ATPase family AAA domain containing 1 | Altid | I 1 tilstand |
| COL6A2collagen type VI alpha 2 chain | Altid | I 2 tilstande |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Altid | I 1 tilstand |
| COX15cytochrome c oxidase assembly factor COX15 | Altid | I 1 tilstand |
| COX6B1cytochrome c oxidase subunit 6B1 | Altid | I 1 tilstand |
| DMRT2doublesex and mab-3 related transcription factor 2 | Altid | I 1 tilstand |
| DNM1Ldynamin 1L | Altid | I 1 tilstand |
| DSTdystonin | Altid | I 1 tilstand |
| EXOSC8exosome component 8 | Altid | I 2 tilstande |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Altid | I 1 tilstand |
| FASTKD2FASTK mitochondrial RNA regulator 2 | Altid | I 1 tilstand |
| FDXRferredoxin reductase | Altid | I 1 tilstand |
| GFRA1GDNF family receptor alpha 1 | Altid | I 1 tilstand |
| HCKHCK proto-oncogene, Src family tyrosine kinase | Altid | I 1 tilstand |
| HSPB8heat shock protein family B (small) member 8 | Altid | I 1 tilstand |
| HYDINHYDIN axonemal central pair apparatus protein | Altid | I 2 tilstande |
| IFIH1interferon induced with helicase C domain 1 | Altid | I 1 tilstand |
| LBX1ladybird homeobox 1 | Altid | I 1 tilstand |
| LGI1leucine rich glioma inactivated 1 | Altid | I 1 tilstand |
| LYRM7LYR motif containing 7 | Altid | I 1 tilstand |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Altid | I 1 tilstand |
| MED11mediator complex subunit 11 | Altid | I 1 tilstand |
| MEGF10multiple EGF like domains 10 | Altid | I 2 tilstande |
| MICOS13mitochondrial contact site and cristae organizing system subunit 13 | Altid | I 1 tilstand |
| MT-TNmitochondrially encoded tRNA-Asn (AAU/C) | Altid | I 1 tilstand |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Altid | I 1 tilstand |
| MYL1myosin light chain 1 | Altid | I 1 tilstand |
| NAXENAD(P)HX epimerase | Altid | I 2 tilstande |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Altid | I 1 tilstand |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Altid | I 1 tilstand |
| NEBnebulin | Altid | I 3 tilstande |
| NFU1NFU1 iron-sulfur cluster scaffold | Altid | I 3 tilstande |
| PDCD1programmed cell death 1 | Altid | I 1 tilstand |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Altid | I 1 tilstand |
| PEX6peroxisomal biogenesis factor 6 | Altid | I 1 tilstand |
| PSAPprosaposin | Altid | I 2 tilstande |
| PTCD3pentatricopeptide repeat domain 3 | Altid | I 1 tilstand |
| PTCRApre T cell antigen receptor alpha | Altid | I 1 tilstand |
Vis 232 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| RMND1required for meiotic nuclear division 1 homolog | Altid | I 1 tilstand |
| RNU6ATACRNA, U6atac small nuclear | Altid | I 1 tilstand |
| SCO1synthesis of cytochrome C oxidase 1 | Altid | I 1 tilstand |
| SCO2synthesis of cytochrome C oxidase 2 | Altid | I 2 tilstande |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Altid | I 1 tilstand |
| SFTPCsurfactant protein C | Altid | I 2 tilstande |
| SURF1SURF1 cytochrome c oxidase assembly factor | Altid | I 1 tilstand |
| TACO1translational activator of cytochrome c oxidase I | Altid | I 1 tilstand |
| TMEM63Btransmembrane protein 63B | Altid | I 1 tilstand |
| TPI1triosephosphate isomerase 1 | Altid | I 1 tilstand |
| TRMT10CtRNA methyltransferase 10C, mitochondrial RNase P subunit | Altid | I 1 tilstand |
| TSEN54tRNA splicing endonuclease subunit 54 | Altid | I 1 tilstand |
| UNC13Aunc-13 homolog A | Altid | I 2 tilstande |
| AGTPBP1ATP/GTP binding carboxypeptidase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| EXOSC3exosome component 3 | Meget ofte (80–99 %) | I 1 tilstand |
| EXOSC9exosome component 9 | Meget ofte (80–99 %) | I 1 tilstand |
| GATA2GATA binding protein 2 | Meget ofte (80–99 %) | I 1 tilstand |
| HTRA2HtrA serine peptidase 2 | Meget ofte (80–99 %) | I 1 tilstand |
| KLHL40kelch like family member 40 | Meget ofte (80–99 %) | I 2 tilstande |
| LAMA2laminin subunit alpha 2 | Meget ofte (80–99 %) | I 1 tilstand |
| RNU4ATACRNA, U4atac small nuclear | Meget ofte (80–99 %) | I 1 tilstand |
| SLC25A46solute carrier family 25 member 46 | Meget ofte (80–99 %) | I 2 tilstande |
| UBE3Bubiquitin protein ligase E3B | Meget ofte (80–99 %) | I 1 tilstand |
| VRK1VRK serine/threonine kinase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| ABCA3ATP binding cassette subfamily A member 3 | Ofte (30–79 %) | I 2 tilstande |
| ANGangiogenin | Ofte (30–79 %) | I 1 tilstand |
| ANXA11annexin A11 | Ofte (30–79 %) | I 1 tilstand |
| ATXN2ataxin 2 | Ofte (30–79 %) | I 1 tilstand |
| BCHEbutyrylcholinesterase | Ofte (30–79 %) | I 1 tilstand |
| BICD2BICD cargo adaptor 2 | Ofte (30–79 %) | I 1 tilstand |
| BOLA3bolA family member 3 | Ofte (30–79 %) | I 2 tilstande |
| CCNFcyclin F | Ofte (30–79 %) | I 1 tilstand |
| CDC45cell division cycle 45 | Ofte (30–79 %) | I 1 tilstand |
| CDC6cell division cycle 6 | Ofte (30–79 %) | I 1 tilstand |
| CDT1chromatin licensing and DNA replication factor 1 | Ofte (30–79 %) | I 1 tilstand |
| CFAP410cilia and flagella associated protein 410 | Ofte (30–79 %) | I 1 tilstand |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Ofte (30–79 %) | I 1 tilstand |
| CHMP2Bcharged multivesicular body protein 2B | Ofte (30–79 %) | I 1 tilstand |
| CNTNAP1contactin associated protein 1 | Ofte (30–79 %) | I 1 tilstand |
| COL12A1collagen type XII alpha 1 chain | Ofte (30–79 %) | I 1 tilstand |
| COL6A1collagen type VI alpha 1 chain | Ofte (30–79 %) | I 1 tilstand |
| COL6A3collagen type VI alpha 3 chain | Ofte (30–79 %) | I 1 tilstand |
| DAOD-amino acid oxidase | Ofte (30–79 %) | I 1 tilstand |
| DCTN1dynactin subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| DLK1delta like non-canonical Notch ligand 1 | Ofte (30–79 %) | I 2 tilstande |
| DNAJB4DnaJ heat shock protein family (Hsp40) member B4 | Ofte (30–79 %) | I 1 tilstand |
| DSPdesmoplakin | Ofte (30–79 %) | I 1 tilstand |
| DTYMKdeoxythymidylate kinase | Ofte (30–79 %) | I 1 tilstand |
| DZIP1LDAZ interacting zinc finger protein 1 like | Ofte (30–79 %) | I 1 tilstand |
| ECHS1enoyl-CoA hydratase, short chain 1 | Ofte (30–79 %) | I 1 tilstand |
| ERBB4erb-b2 receptor tyrosine kinase 4 | Ofte (30–79 %) | I 1 tilstand |
| FAM20CFAM20C golgi associated secretory pathway kinase | Ofte (30–79 %) | I 1 tilstand |
| FHL1four and a half LIM domains 1 | Ofte (30–79 %) | I 1 tilstand |
| FIG4FIG4 phosphoinositide 5-phosphatase | Ofte (30–79 %) | I 1 tilstand |
| FUSFUS RNA binding protein | Ofte (30–79 %) | I 1 tilstand |
| GAAalpha glucosidase | Ofte (30–79 %) | I 1 tilstand |
| GLE1GLE1 RNA export mediator | Ofte (30–79 %) | I 2 tilstande |
| GLSglutaminase | Ofte (30–79 %) | I 1 tilstand |
| GLT8D1glycosyltransferase 8 domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| GMNNgeminin DNA replication inhibitor | Ofte (30–79 %) | I 1 tilstand |
| GOSR2golgi SNAP receptor complex member 2 | Ofte (30–79 %) | I 1 tilstand |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Ofte (30–79 %) | I 1 tilstand |
| IBA57iron-sulfur cluster assembly factor IBA57 | Ofte (30–79 %) | I 2 tilstande |
| JUPjunction plakoglobin | Ofte (30–79 %) | I 1 tilstand |
| KLHL41kelch like family member 41 | Ofte (30–79 %) | I 2 tilstande |
| LMOD3leiomodin 3 | Ofte (30–79 %) | I 1 tilstand |
| LRP12LDL receptor related protein 12 | Ofte (30–79 %) | I 2 tilstande |
| MATR3matrin 3 | Ofte (30–79 %) | I 1 tilstand |
| MEG3maternally expressed 3 | Ofte (30–79 %) | I 2 tilstande |
| MGME1mitochondrial genome maintenance exonuclease 1 | Ofte (30–79 %) | I 1 tilstand |
| MTR5-methyltetrahydrofolate-homocysteine methyltransferase | Ofte (30–79 %) | I 1 tilstand |
| NDUFAF3NADH:ubiquinone oxidoreductase complex assembly factor 3 | Ofte (30–79 %) | I 1 tilstand |
| NDUFB8NADH:ubiquinone oxidoreductase subunit B8 | Ofte (30–79 %) | I 1 tilstand |
| NEFHneurofilament heavy chain | Ofte (30–79 %) | I 1 tilstand |
| NEK1NIMA related kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| NFS1NFS1 cysteine desulfurase | Ofte (30–79 %) | I 1 tilstand |
| NUP188nucleoporin 188 | Ofte (30–79 %) | I 1 tilstand |
| NUTM2B-AS1NUTM2B antisense RNA 1 | Ofte (30–79 %) | I 1 tilstand |
| OPTNoptineurin | Ofte (30–79 %) | I 2 tilstande |
| ORC1origin recognition complex subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| ORC4origin recognition complex subunit 4 | Ofte (30–79 %) | I 1 tilstand |
| ORC6origin recognition complex subunit 6 | Ofte (30–79 %) | I 1 tilstand |
| PFN1profilin 1 | Ofte (30–79 %) | I 1 tilstand |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Ofte (30–79 %) | I 1 tilstand |
| PKHD1PKHD1 ciliary IPT domain containing fibrocystin/polyductin | Ofte (30–79 %) | I 1 tilstand |
| PRPHperipherin | Ofte (30–79 %) | I 1 tilstand |
| RTL1retrotransposon Gag like 1 | Ofte (30–79 %) | I 2 tilstande |
| SARS2seryl-tRNA synthetase 2, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| SFTPBsurfactant protein B | Ofte (30–79 %) | I 2 tilstande |
| SMPD1sphingomyelin phosphodiesterase 1 | Ofte (30–79 %) | I 1 tilstand |
| SOD1superoxide dismutase 1 | Ofte (30–79 %) | I 1 tilstand |
| SQSTM1sequestosome 1 | Ofte (30–79 %) | I 1 tilstand |
| TAF15TATA-box binding protein associated factor 15 | Ofte (30–79 %) | I 1 tilstand |
| TAMM41TAM41 mitochondrial translocator assembly and maintenance homolog | Ofte (30–79 %) | I 1 tilstand |
| TARDBPTAR DNA binding protein | Ofte (30–79 %) | I 1 tilstand |
| TBCDtubulin folding cofactor D | Ofte (30–79 %) | I 1 tilstand |
| TBK1TANK binding kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| TMEM70transmembrane protein 70 | Ofte (30–79 %) | I 1 tilstand |
| TPM3tropomyosin 3 | Ofte (30–79 %) | I 2 tilstande |
| TREM2triggering receptor expressed on myeloid cells 2 | Ofte (30–79 %) | I 1 tilstand |
| TSFMTs translation elongation factor, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| UBQLN2ubiquilin 2 | Ofte (30–79 %) | I 1 tilstand |
| VAPBVAMP associated protein B and C | Ofte (30–79 %) | I 1 tilstand |
| VCPvalosin containing protein | Ofte (30–79 %) | I 2 tilstande |
| ZFPM2zinc finger protein, FOG family member 2 | Ofte (30–79 %) | I 1 tilstand |
| AHCYadenosylhomocysteinase | Nogle gange (5–29 %) | I 1 tilstand |
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| ASAH1N-acylsphingosine amidohydrolase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ATXN1ataxin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Nogle gange (5–29 %) | I 1 tilstand |
| CLPBClpB family mitochondrial disaggregase | Nogle gange (5–29 %) | I 1 tilstand |
| COX7Bcytochrome c oxidase subunit 7B | Nogle gange (5–29 %) | I 1 tilstand |
| CSPP1centrosome and spindle pole associated protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CTSDcathepsin D | Nogle gange (5–29 %) | I 1 tilstand |
| FGFR3fibroblast growth factor receptor 3 | Nogle gange (5–29 %) | I 1 tilstand |
| FKRPfukutin related protein | Nogle gange (5–29 %) | I 2 tilstande |
| FREM2FRAS1 related extracellular matrix 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GALCgalactosylceramidase | Nogle gange (5–29 %) | I 1 tilstand |
| GMPPBGDP-mannose pyrophosphorylase B | Nogle gange (5–29 %) | I 1 tilstand |
| GTPBP3GTP binding protein 3, mitochondrial | Nogle gange (5–29 %) | I 1 tilstand |
| HACD13-hydroxyacyl-CoA dehydratase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Nogle gange (5–29 %) | I 2 tilstande |
| HADHBhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | Nogle gange (5–29 %) | I 1 tilstand |
| HCCSholocytochrome c synthase | Nogle gange (5–29 %) | I 1 tilstand |
| HMOX1heme oxygenase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Nogle gange (5–29 %) | I 1 tilstand |
| IRF4interferon regulatory factor 4 | Nogle gange (5–29 %) | I 1 tilstand |
| ITGA7integrin subunit alpha 7 | Nogle gange (5–29 %) | I 1 tilstand |
| KARS1lysyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| LAMA3laminin subunit alpha 3 | Nogle gange (5–29 %) | I 1 tilstand |
| LAMB3laminin subunit beta 3 | Nogle gange (5–29 %) | I 1 tilstand |
| LAMC2laminin subunit gamma 2 | Nogle gange (5–29 %) | I 1 tilstand |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| LRPPRCleucine rich pentatricopeptide repeat containing | Nogle gange (5–29 %) | I 1 tilstand |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Nogle gange (5–29 %) | I 1 tilstand |
| MCM4minichromosome maintenance complex component 4 | Nogle gange (5–29 %) | I 1 tilstand |
| MYL2myosin light chain 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MYOTmyotilin | Nogle gange (5–29 %) | I 1 tilstand |
| NBNnibrin | Nogle gange (5–29 %) | I 1 tilstand |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Nogle gange (5–29 %) | I 1 tilstand |
| PLP1proteolipid protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| POMT1protein O-mannosyltransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| POMT2protein O-mannosyltransferase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| RNF168ring finger protein 168 | Nogle gange (5–29 %) | I 1 tilstand |
| RYR1ryanodine receptor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SELENONselenoprotein N | Nogle gange (5–29 %) | I 1 tilstand |
| SLC2A10solute carrier family 2 member 10 | Nogle gange (5–29 %) | I 1 tilstand |
| SMAD4SMAD family member 4 | Nogle gange (5–29 %) | I 1 tilstand |
| SONSON DNA and RNA binding protein | Nogle gange (5–29 %) | I 1 tilstand |
| TFGtrafficking from ER to golgi regulator | Nogle gange (5–29 %) | I 1 tilstand |
| TPM2tropomyosin 2 | Nogle gange (5–29 %) | I 1 tilstand |
| BLMBLM RecQ like helicase | Sjældent (1–4%) | I 1 tilstand |
| BRWD1bromodomain and WD repeat domain containing 1 | Sjældent (1–4%) | I 1 tilstand |
| CCDC39coiled-coil domain 39 molecular ruler complex subunit | Sjældent (1–4%) | I 1 tilstand |
| CCDC40coiled-coil domain 40 molecular ruler complex subunit | Sjældent (1–4%) | I 1 tilstand |
| CCNOcyclin O | Sjældent (1–4%) | I 1 tilstand |
| CFAP221cilia and flagella associated protein 221 | Sjældent (1–4%) | I 1 tilstand |
| CFAP298cilia and flagella associated protein 298 | Sjældent (1–4%) | I 1 tilstand |
| CFAP300cilia and flagella associated protein 300 | Sjældent (1–4%) | I 1 tilstand |
| CFAP74cilia and flagella associated protein 74 | Sjældent (1–4%) | I 1 tilstand |
| CLXNcalaxin | Sjældent (1–4%) | I 1 tilstand |
| DAW1dynein assembly factor with WD repeats 1 | Sjældent (1–4%) | I 1 tilstand |
| DNAAF1dynein axonemal assembly factor 1 | Sjældent (1–4%) | I 1 tilstand |
| DNAAF11dynein axonemal assembly factor 11 | Sjældent (1–4%) | I 1 tilstand |
| DNAAF19dynein axonemal assembly factor 19 | Sjældent (1–4%) | I 1 tilstand |
| DNAAF2dynein axonemal assembly factor 2 | Sjældent (1–4%) | I 1 tilstand |
| DNAAF3dynein axonemal assembly factor 3 | Sjældent (1–4%) | I 1 tilstand |
| DNAAF4dynein axonemal assembly factor 4 | Sjældent (1–4%) | I 1 tilstand |
| DNAAF5dynein axonemal assembly factor 5 | Sjældent (1–4%) | I 1 tilstand |
| DNAAF6dynein axonemal assembly factor 6 | Sjældent (1–4%) | I 1 tilstand |
| DNAH1dynein axonemal heavy chain 1 | Sjældent (1–4%) | I 1 tilstand |
| DNAH11dynein axonemal heavy chain 11 | Sjældent (1–4%) | I 1 tilstand |
| DNAH5dynein axonemal heavy chain 5 | Sjældent (1–4%) | I 1 tilstand |
| DNAH7dynein axonemal heavy chain 7 | Sjældent (1–4%) | I 1 tilstand |
| DNAH9dynein axonemal heavy chain 9 | Sjældent (1–4%) | I 1 tilstand |
| DNAI1dynein axonemal intermediate chain 1 | Sjældent (1–4%) | I 1 tilstand |
| DNAI2dynein axonemal intermediate chain 2 | Sjældent (1–4%) | I 1 tilstand |
| DNAJB13DnaJ heat shock protein family (Hsp40) member B13 | Sjældent (1–4%) | I 1 tilstand |
| DNAL1dynein axonemal light chain 1 | Sjældent (1–4%) | I 1 tilstand |
| DRC1dynein regulatory complex subunit 1 | Sjældent (1–4%) | I 1 tilstand |
| DRC2dynein regulatory complex subunit 2 | Sjældent (1–4%) | I 1 tilstand |
| DRC4dynein regulatory complex subunit 4 | Sjældent (1–4%) | I 1 tilstand |
| FOXJ1forkhead box J1 | Sjældent (1–4%) | I 1 tilstand |
| GAS2L2growth arrest specific 2 like 2 | Sjældent (1–4%) | I 1 tilstand |
| IFNGinterferon gamma | Sjældent (1–4%) | I 1 tilstand |
| LRRC56leucine rich repeat containing 56 | Sjældent (1–4%) | I 1 tilstand |
| MCIDASmulticiliate differentiation and DNA synthesis associated cell cycle protein | Sjældent (1–4%) | I 1 tilstand |
| MTTPmicrosomal triglyceride transfer protein | Sjældent (1–4%) | I 1 tilstand |
| NEK10NIMA related kinase 10 | Sjældent (1–4%) | I 1 tilstand |
| NKX2-1NK2 homeobox 1 | Sjældent (1–4%) | I 1 tilstand |
| NME5NME/NM23 family member 5 | Sjældent (1–4%) | I 1 tilstand |
| NME8NME/NM23 family member 8 | Sjældent (1–4%) | I 1 tilstand |
| ODAD1outer dynein arm docking complex subunit 1 | Sjældent (1–4%) | I 1 tilstand |
| ODAD2outer dynein arm docking complex subunit 2 | Sjældent (1–4%) | I 1 tilstand |
| ODAD3outer dynein arm docking complex subunit 3 | Sjældent (1–4%) | I 1 tilstand |
| ODAD4outer dynein arm docking complex subunit 4 | Sjældent (1–4%) | I 1 tilstand |
| OFD1OFD1 centriole and centriolar satellite protein | Sjældent (1–4%) | I 1 tilstand |
| RPGRretinitis pigmentosa GTPase regulator | Sjældent (1–4%) | I 1 tilstand |
| RSPH1radial spoke head component 1 | Sjældent (1–4%) | I 1 tilstand |
| RSPH3radial spoke head 3 | Sjældent (1–4%) | I 1 tilstand |
| RSPH4Aradial spoke head component 4A | Sjældent (1–4%) | I 1 tilstand |
| RSPH9radial spoke head component 9 | Sjældent (1–4%) | I 1 tilstand |
| SLC34A2solute carrier family 34 member 2 | Sjældent (1–4%) | I 1 tilstand |
| SPAG1sperm associated antigen 1 | Sjældent (1–4%) | I 1 tilstand |
| SPEF2sperm flagellar and cilia associated 2 | Sjældent (1–4%) | I 1 tilstand |
| STK36serine/threonine kinase 36 | Sjældent (1–4%) | I 1 tilstand |
| TSC1TSC complex subunit 1 | Sjældent (1–4%) | I 1 tilstand |
| TSC2TSC complex subunit 2 | Sjældent (1–4%) | I 1 tilstand |
| TTC12tetratricopeptide repeat domain 12 | Sjældent (1–4%) | I 1 tilstand |
| ZMYND10zinc finger MYND-type containing 10 | Sjældent (1–4%) | I 1 tilstand |
| ACVR1activin A receptor type 1 | Ikke registreret | I 1 tilstand |
| ASCC1activating signal cointegrator 1 complex subunit 1 | Ikke registreret | I 1 tilstand |
| CPT2carnitine palmitoyltransferase 2 | Ikke registreret | I 1 tilstand |
| CRYABcrystallin alpha B | Ikke registreret | I 1 tilstand |
| DAG1dystroglycan 1 | Ikke registreret | I 1 tilstand |
| DMDdystrophin | Ikke registreret | I 1 tilstand |
| ERBB3erb-b2 receptor tyrosine kinase 3 | Ikke registreret | I 1 tilstand |
| FLNAfilamin A | Ikke registreret | I 1 tilstand |
| HRASHRas proto-oncogene, GTPase | Ikke registreret | I 1 tilstand |
| IFT81intraflagellar transport 81 | Ikke registreret | I 1 tilstand |
| IGHMBP2immunoglobulin mu DNA binding protein 2 | Ikke registreret | I 1 tilstand |
| INVSinversin | Ikke registreret | I 1 tilstand |
| LTBP3latent transforming growth factor beta binding protein 3 | Ikke registreret | I 1 tilstand |
| NPC2NPC intracellular cholesterol transporter 2 | Ikke registreret | I 1 tilstand |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Ikke registreret | I 1 tilstand |
| SLC25A26solute carrier family 25 member 26 | Ikke registreret | I 1 tilstand |
| SLC6A9solute carrier family 6 member 9 | Ikke registreret | I 1 tilstand |
| SMN1survival of motor neuron 1, telomeric | Ikke registreret | I 1 tilstand |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Ikke registreret | I 1 tilstand |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Ikke registreret | I 2 tilstande |
| TTNtitin | Ikke registreret | I 2 tilstande |
| TUFMTu translation elongation factor, mitochondrial | 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.
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.
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