Požymis
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.
Santrauka
- Kūno sistema
- Abnormality of the respiratory system
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
Read the genes linked to Respiratory failure, and the rest of your genome, with one test.
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Įsigyti savo Genome Test272 genų susiję su Respiratory failure
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Respiratory failure. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| ACTA1actin alpha 1, skeletal muscle | Visada | 4 ligose |
| AMTaminomethyltransferase | Visada | 1 ligoje |
| ATAD1ATPase family AAA domain containing 1 | Visada | 1 ligoje |
| COL6A2collagen type VI alpha 2 chain | Visada | 2 ligose |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Visada | 1 ligoje |
| COX15cytochrome c oxidase assembly factor COX15 | Visada | 1 ligoje |
| COX6B1cytochrome c oxidase subunit 6B1 | Visada | 1 ligoje |
| DMRT2doublesex and mab-3 related transcription factor 2 | Visada | 1 ligoje |
| DNM1Ldynamin 1L | Visada | 1 ligoje |
| DSTdystonin | Visada | 1 ligoje |
| EXOSC8exosome component 8 | Visada | 2 ligose |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Visada | 1 ligoje |
| FASTKD2FASTK mitochondrial RNA regulator 2 | Visada | 1 ligoje |
| FDXRferredoxin reductase | Visada | 1 ligoje |
| GFRA1GDNF family receptor alpha 1 | Visada | 1 ligoje |
| HCKHCK proto-oncogene, Src family tyrosine kinase | Visada | 1 ligoje |
| HSPB8heat shock protein family B (small) member 8 | Visada | 1 ligoje |
| HYDINHYDIN axonemal central pair apparatus protein | Visada | 2 ligose |
| IFIH1interferon induced with helicase C domain 1 | Visada | 1 ligoje |
| LBX1ladybird homeobox 1 | Visada | 1 ligoje |
| LGI1leucine rich glioma inactivated 1 | Visada | 1 ligoje |
| LYRM7LYR motif containing 7 | Visada | 1 ligoje |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Visada | 1 ligoje |
| MED11mediator complex subunit 11 | Visada | 1 ligoje |
| MEGF10multiple EGF like domains 10 | Visada | 2 ligose |
| MICOS13mitochondrial contact site and cristae organizing system subunit 13 | Visada | 1 ligoje |
| MT-TNmitochondrially encoded tRNA-Asn (AAU/C) | Visada | 1 ligoje |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Visada | 1 ligoje |
| MYL1myosin light chain 1 | Visada | 1 ligoje |
| NAXENAD(P)HX epimerase | Visada | 2 ligose |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Visada | 1 ligoje |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Visada | 1 ligoje |
| NEBnebulin | Visada | 3 ligose |
| NFU1NFU1 iron-sulfur cluster scaffold | Visada | 3 ligose |
| PDCD1programmed cell death 1 | Visada | 1 ligoje |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Visada | 1 ligoje |
| PEX6peroxisomal biogenesis factor 6 | Visada | 1 ligoje |
| PSAPprosaposin | Visada | 2 ligose |
| PTCD3pentatricopeptide repeat domain 3 | Visada | 1 ligoje |
| PTCRApre T cell antigen receptor alpha | Visada | 1 ligoje |
Rodyti dar 232 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| RMND1required for meiotic nuclear division 1 homolog | Visada | 1 ligoje |
| RNU6ATACRNA, U6atac small nuclear | Visada | 1 ligoje |
| SCO1synthesis of cytochrome C oxidase 1 | Visada | 1 ligoje |
| SCO2synthesis of cytochrome C oxidase 2 | Visada | 2 ligose |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Visada | 1 ligoje |
| SFTPCsurfactant protein C | Visada | 2 ligose |
| SURF1SURF1 cytochrome c oxidase assembly factor | Visada | 1 ligoje |
| TACO1translational activator of cytochrome c oxidase I | Visada | 1 ligoje |
| TMEM63Btransmembrane protein 63B | Visada | 1 ligoje |
| TPI1triosephosphate isomerase 1 | Visada | 1 ligoje |
| TRMT10CtRNA methyltransferase 10C, mitochondrial RNase P subunit | Visada | 1 ligoje |
| TSEN54tRNA splicing endonuclease subunit 54 | Visada | 1 ligoje |
| UNC13Aunc-13 homolog A | Visada | 2 ligose |
| AGTPBP1ATP/GTP binding carboxypeptidase 1 | Labai dažnai (80–99%) | 1 ligoje |
| EXOSC3exosome component 3 | Labai dažnai (80–99%) | 1 ligoje |
| EXOSC9exosome component 9 | Labai dažnai (80–99%) | 1 ligoje |
| GATA2GATA binding protein 2 | Labai dažnai (80–99%) | 1 ligoje |
| HTRA2HtrA serine peptidase 2 | Labai dažnai (80–99%) | 1 ligoje |
| KLHL40kelch like family member 40 | Labai dažnai (80–99%) | 2 ligose |
| LAMA2laminin subunit alpha 2 | Labai dažnai (80–99%) | 1 ligoje |
| RNU4ATACRNA, U4atac small nuclear | Labai dažnai (80–99%) | 1 ligoje |
| SLC25A46solute carrier family 25 member 46 | Labai dažnai (80–99%) | 2 ligose |
| UBE3Bubiquitin protein ligase E3B | Labai dažnai (80–99%) | 1 ligoje |
| VRK1VRK serine/threonine kinase 1 | Labai dažnai (80–99%) | 1 ligoje |
| ABCA3ATP binding cassette subfamily A member 3 | Dažnai (30–79%) | 2 ligose |
| ANGangiogenin | Dažnai (30–79%) | 1 ligoje |
| ANXA11annexin A11 | Dažnai (30–79%) | 1 ligoje |
| ATXN2ataxin 2 | Dažnai (30–79%) | 1 ligoje |
| BCHEbutyrylcholinesterase | Dažnai (30–79%) | 1 ligoje |
| BICD2BICD cargo adaptor 2 | Dažnai (30–79%) | 1 ligoje |
| BOLA3bolA family member 3 | Dažnai (30–79%) | 2 ligose |
| CCNFcyclin F | Dažnai (30–79%) | 1 ligoje |
| CDC45cell division cycle 45 | Dažnai (30–79%) | 1 ligoje |
| CDC6cell division cycle 6 | Dažnai (30–79%) | 1 ligoje |
| CDT1chromatin licensing and DNA replication factor 1 | Dažnai (30–79%) | 1 ligoje |
| CFAP410cilia and flagella associated protein 410 | Dažnai (30–79%) | 1 ligoje |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Dažnai (30–79%) | 1 ligoje |
| CHMP2Bcharged multivesicular body protein 2B | Dažnai (30–79%) | 1 ligoje |
| CNTNAP1contactin associated protein 1 | Dažnai (30–79%) | 1 ligoje |
| COL12A1collagen type XII alpha 1 chain | Dažnai (30–79%) | 1 ligoje |
| COL6A1collagen type VI alpha 1 chain | Dažnai (30–79%) | 1 ligoje |
| COL6A3collagen type VI alpha 3 chain | Dažnai (30–79%) | 1 ligoje |
| DAOD-amino acid oxidase | Dažnai (30–79%) | 1 ligoje |
| DCTN1dynactin subunit 1 | Dažnai (30–79%) | 1 ligoje |
| DLK1delta like non-canonical Notch ligand 1 | Dažnai (30–79%) | 2 ligose |
| DNAJB4DnaJ heat shock protein family (Hsp40) member B4 | Dažnai (30–79%) | 1 ligoje |
| DSPdesmoplakin | Dažnai (30–79%) | 1 ligoje |
| DTYMKdeoxythymidylate kinase | Dažnai (30–79%) | 1 ligoje |
| DZIP1LDAZ interacting zinc finger protein 1 like | Dažnai (30–79%) | 1 ligoje |
| ECHS1enoyl-CoA hydratase, short chain 1 | Dažnai (30–79%) | 1 ligoje |
| ERBB4erb-b2 receptor tyrosine kinase 4 | Dažnai (30–79%) | 1 ligoje |
| FAM20CFAM20C golgi associated secretory pathway kinase | Dažnai (30–79%) | 1 ligoje |
| FHL1four and a half LIM domains 1 | Dažnai (30–79%) | 1 ligoje |
| FIG4FIG4 phosphoinositide 5-phosphatase | Dažnai (30–79%) | 1 ligoje |
| FUSFUS RNA binding protein | Dažnai (30–79%) | 1 ligoje |
| GAAalpha glucosidase | Dažnai (30–79%) | 1 ligoje |
| GLE1GLE1 RNA export mediator | Dažnai (30–79%) | 2 ligose |
| GLSglutaminase | Dažnai (30–79%) | 1 ligoje |
| GLT8D1glycosyltransferase 8 domain containing 1 | Dažnai (30–79%) | 1 ligoje |
| GMNNgeminin DNA replication inhibitor | Dažnai (30–79%) | 1 ligoje |
| GOSR2golgi SNAP receptor complex member 2 | Dažnai (30–79%) | 1 ligoje |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Dažnai (30–79%) | 1 ligoje |
| IBA57iron-sulfur cluster assembly factor IBA57 | Dažnai (30–79%) | 2 ligose |
| JUPjunction plakoglobin | Dažnai (30–79%) | 1 ligoje |
| KLHL41kelch like family member 41 | Dažnai (30–79%) | 2 ligose |
| LMOD3leiomodin 3 | Dažnai (30–79%) | 1 ligoje |
| LRP12LDL receptor related protein 12 | Dažnai (30–79%) | 2 ligose |
| MATR3matrin 3 | Dažnai (30–79%) | 1 ligoje |
| MEG3maternally expressed 3 | Dažnai (30–79%) | 2 ligose |
| MGME1mitochondrial genome maintenance exonuclease 1 | Dažnai (30–79%) | 1 ligoje |
| MTR5-methyltetrahydrofolate-homocysteine methyltransferase | Dažnai (30–79%) | 1 ligoje |
| NDUFAF3NADH:ubiquinone oxidoreductase complex assembly factor 3 | Dažnai (30–79%) | 1 ligoje |
| NDUFB8NADH:ubiquinone oxidoreductase subunit B8 | Dažnai (30–79%) | 1 ligoje |
| NEFHneurofilament heavy chain | Dažnai (30–79%) | 1 ligoje |
| NEK1NIMA related kinase 1 | Dažnai (30–79%) | 1 ligoje |
| NFS1NFS1 cysteine desulfurase | Dažnai (30–79%) | 1 ligoje |
| NUP188nucleoporin 188 | Dažnai (30–79%) | 1 ligoje |
| NUTM2B-AS1NUTM2B antisense RNA 1 | Dažnai (30–79%) | 1 ligoje |
| OPTNoptineurin | Dažnai (30–79%) | 2 ligose |
| ORC1origin recognition complex subunit 1 | Dažnai (30–79%) | 1 ligoje |
| ORC4origin recognition complex subunit 4 | Dažnai (30–79%) | 1 ligoje |
| ORC6origin recognition complex subunit 6 | Dažnai (30–79%) | 1 ligoje |
| PFN1profilin 1 | Dažnai (30–79%) | 1 ligoje |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Dažnai (30–79%) | 1 ligoje |
| PKHD1PKHD1 ciliary IPT domain containing fibrocystin/polyductin | Dažnai (30–79%) | 1 ligoje |
| PRPHperipherin | Dažnai (30–79%) | 1 ligoje |
| RTL1retrotransposon Gag like 1 | Dažnai (30–79%) | 2 ligose |
| SARS2seryl-tRNA synthetase 2, mitochondrial | Dažnai (30–79%) | 1 ligoje |
| SFTPBsurfactant protein B | Dažnai (30–79%) | 2 ligose |
| SMPD1sphingomyelin phosphodiesterase 1 | Dažnai (30–79%) | 1 ligoje |
| SOD1superoxide dismutase 1 | Dažnai (30–79%) | 1 ligoje |
| SQSTM1sequestosome 1 | Dažnai (30–79%) | 1 ligoje |
| TAF15TATA-box binding protein associated factor 15 | Dažnai (30–79%) | 1 ligoje |
| TAMM41TAM41 mitochondrial translocator assembly and maintenance homolog | Dažnai (30–79%) | 1 ligoje |
| TARDBPTAR DNA binding protein | Dažnai (30–79%) | 1 ligoje |
| TBCDtubulin folding cofactor D | Dažnai (30–79%) | 1 ligoje |
| TBK1TANK binding kinase 1 | Dažnai (30–79%) | 1 ligoje |
| TMEM70transmembrane protein 70 | Dažnai (30–79%) | 1 ligoje |
| TPM3tropomyosin 3 | Dažnai (30–79%) | 2 ligose |
| TREM2triggering receptor expressed on myeloid cells 2 | Dažnai (30–79%) | 1 ligoje |
| TSFMTs translation elongation factor, mitochondrial | Dažnai (30–79%) | 1 ligoje |
| UBQLN2ubiquilin 2 | Dažnai (30–79%) | 1 ligoje |
| VAPBVAMP associated protein B and C | Dažnai (30–79%) | 1 ligoje |
| VCPvalosin containing protein | Dažnai (30–79%) | 2 ligose |
| ZFPM2zinc finger protein, FOG family member 2 | Dažnai (30–79%) | 1 ligoje |
| AHCYadenosylhomocysteinase | Kartais (5–29%) | 1 ligoje |
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Kartais (5–29%) | 1 ligoje |
| ASAH1N-acylsphingosine amidohydrolase 1 | Kartais (5–29%) | 1 ligoje |
| ATXN1ataxin 1 | Kartais (5–29%) | 1 ligoje |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Kartais (5–29%) | 1 ligoje |
| CLPBClpB family mitochondrial disaggregase | Kartais (5–29%) | 1 ligoje |
| COX7Bcytochrome c oxidase subunit 7B | Kartais (5–29%) | 1 ligoje |
| CSPP1centrosome and spindle pole associated protein 1 | Kartais (5–29%) | 1 ligoje |
| CTSDcathepsin D | Kartais (5–29%) | 1 ligoje |
| FGFR3fibroblast growth factor receptor 3 | Kartais (5–29%) | 1 ligoje |
| FKRPfukutin related protein | Kartais (5–29%) | 2 ligose |
| FREM2FRAS1 related extracellular matrix 2 | Kartais (5–29%) | 1 ligoje |
| GALCgalactosylceramidase | Kartais (5–29%) | 1 ligoje |
| GMPPBGDP-mannose pyrophosphorylase B | Kartais (5–29%) | 1 ligoje |
| GTPBP3GTP binding protein 3, mitochondrial | Kartais (5–29%) | 1 ligoje |
| HACD13-hydroxyacyl-CoA dehydratase 1 | Kartais (5–29%) | 1 ligoje |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Kartais (5–29%) | 2 ligose |
| HADHBhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | Kartais (5–29%) | 1 ligoje |
| HCCSholocytochrome c synthase | Kartais (5–29%) | 1 ligoje |
| HMOX1heme oxygenase 1 | Kartais (5–29%) | 1 ligoje |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Kartais (5–29%) | 1 ligoje |
| IRF4interferon regulatory factor 4 | Kartais (5–29%) | 1 ligoje |
| ITGA7integrin subunit alpha 7 | Kartais (5–29%) | 1 ligoje |
| KARS1lysyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| LAMA3laminin subunit alpha 3 | Kartais (5–29%) | 1 ligoje |
| LAMB3laminin subunit beta 3 | Kartais (5–29%) | 1 ligoje |
| LAMC2laminin subunit gamma 2 | Kartais (5–29%) | 1 ligoje |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Kartais (5–29%) | 1 ligoje |
| LRPPRCleucine rich pentatricopeptide repeat containing | Kartais (5–29%) | 1 ligoje |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Kartais (5–29%) | 1 ligoje |
| MCM4minichromosome maintenance complex component 4 | Kartais (5–29%) | 1 ligoje |
| MYL2myosin light chain 2 | Kartais (5–29%) | 1 ligoje |
| MYOTmyotilin | Kartais (5–29%) | 1 ligoje |
| NBNnibrin | Kartais (5–29%) | 1 ligoje |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Kartais (5–29%) | 1 ligoje |
| PLP1proteolipid protein 1 | Kartais (5–29%) | 1 ligoje |
| POMT1protein O-mannosyltransferase 1 | Kartais (5–29%) | 1 ligoje |
| POMT2protein O-mannosyltransferase 2 | Kartais (5–29%) | 1 ligoje |
| RNF168ring finger protein 168 | Kartais (5–29%) | 1 ligoje |
| RYR1ryanodine receptor 1 | Kartais (5–29%) | 1 ligoje |
| SELENONselenoprotein N | Kartais (5–29%) | 1 ligoje |
| SLC2A10solute carrier family 2 member 10 | Kartais (5–29%) | 1 ligoje |
| SMAD4SMAD family member 4 | Kartais (5–29%) | 1 ligoje |
| SONSON DNA and RNA binding protein | Kartais (5–29%) | 1 ligoje |
| TFGtrafficking from ER to golgi regulator | Kartais (5–29%) | 1 ligoje |
| TPM2tropomyosin 2 | Kartais (5–29%) | 1 ligoje |
| BLMBLM RecQ like helicase | Retai (1–4 %) | 1 ligoje |
| BRWD1bromodomain and WD repeat domain containing 1 | Retai (1–4 %) | 1 ligoje |
| CCDC39coiled-coil domain 39 molecular ruler complex subunit | Retai (1–4 %) | 1 ligoje |
| CCDC40coiled-coil domain 40 molecular ruler complex subunit | Retai (1–4 %) | 1 ligoje |
| CCNOcyclin O | Retai (1–4 %) | 1 ligoje |
| CFAP221cilia and flagella associated protein 221 | Retai (1–4 %) | 1 ligoje |
| CFAP298cilia and flagella associated protein 298 | Retai (1–4 %) | 1 ligoje |
| CFAP300cilia and flagella associated protein 300 | Retai (1–4 %) | 1 ligoje |
| CFAP74cilia and flagella associated protein 74 | Retai (1–4 %) | 1 ligoje |
| CLXNcalaxin | Retai (1–4 %) | 1 ligoje |
| DAW1dynein assembly factor with WD repeats 1 | Retai (1–4 %) | 1 ligoje |
| DNAAF1dynein axonemal assembly factor 1 | Retai (1–4 %) | 1 ligoje |
| DNAAF11dynein axonemal assembly factor 11 | Retai (1–4 %) | 1 ligoje |
| DNAAF19dynein axonemal assembly factor 19 | Retai (1–4 %) | 1 ligoje |
| DNAAF2dynein axonemal assembly factor 2 | Retai (1–4 %) | 1 ligoje |
| DNAAF3dynein axonemal assembly factor 3 | Retai (1–4 %) | 1 ligoje |
| DNAAF4dynein axonemal assembly factor 4 | Retai (1–4 %) | 1 ligoje |
| DNAAF5dynein axonemal assembly factor 5 | Retai (1–4 %) | 1 ligoje |
| DNAAF6dynein axonemal assembly factor 6 | Retai (1–4 %) | 1 ligoje |
| DNAH1dynein axonemal heavy chain 1 | Retai (1–4 %) | 1 ligoje |
| DNAH11dynein axonemal heavy chain 11 | Retai (1–4 %) | 1 ligoje |
| DNAH5dynein axonemal heavy chain 5 | Retai (1–4 %) | 1 ligoje |
| DNAH7dynein axonemal heavy chain 7 | Retai (1–4 %) | 1 ligoje |
| DNAH9dynein axonemal heavy chain 9 | Retai (1–4 %) | 1 ligoje |
| DNAI1dynein axonemal intermediate chain 1 | Retai (1–4 %) | 1 ligoje |
| DNAI2dynein axonemal intermediate chain 2 | Retai (1–4 %) | 1 ligoje |
| DNAJB13DnaJ heat shock protein family (Hsp40) member B13 | Retai (1–4 %) | 1 ligoje |
| DNAL1dynein axonemal light chain 1 | Retai (1–4 %) | 1 ligoje |
| DRC1dynein regulatory complex subunit 1 | Retai (1–4 %) | 1 ligoje |
| DRC2dynein regulatory complex subunit 2 | Retai (1–4 %) | 1 ligoje |
| DRC4dynein regulatory complex subunit 4 | Retai (1–4 %) | 1 ligoje |
| FOXJ1forkhead box J1 | Retai (1–4 %) | 1 ligoje |
| GAS2L2growth arrest specific 2 like 2 | Retai (1–4 %) | 1 ligoje |
| IFNGinterferon gamma | Retai (1–4 %) | 1 ligoje |
| LRRC56leucine rich repeat containing 56 | Retai (1–4 %) | 1 ligoje |
| MCIDASmulticiliate differentiation and DNA synthesis associated cell cycle protein | Retai (1–4 %) | 1 ligoje |
| MTTPmicrosomal triglyceride transfer protein | Retai (1–4 %) | 1 ligoje |
| NEK10NIMA related kinase 10 | Retai (1–4 %) | 1 ligoje |
| NKX2-1NK2 homeobox 1 | Retai (1–4 %) | 1 ligoje |
| NME5NME/NM23 family member 5 | Retai (1–4 %) | 1 ligoje |
| NME8NME/NM23 family member 8 | Retai (1–4 %) | 1 ligoje |
| ODAD1outer dynein arm docking complex subunit 1 | Retai (1–4 %) | 1 ligoje |
| ODAD2outer dynein arm docking complex subunit 2 | Retai (1–4 %) | 1 ligoje |
| ODAD3outer dynein arm docking complex subunit 3 | Retai (1–4 %) | 1 ligoje |
| ODAD4outer dynein arm docking complex subunit 4 | Retai (1–4 %) | 1 ligoje |
| OFD1OFD1 centriole and centriolar satellite protein | Retai (1–4 %) | 1 ligoje |
| RPGRretinitis pigmentosa GTPase regulator | Retai (1–4 %) | 1 ligoje |
| RSPH1radial spoke head component 1 | Retai (1–4 %) | 1 ligoje |
| RSPH3radial spoke head 3 | Retai (1–4 %) | 1 ligoje |
| RSPH4Aradial spoke head component 4A | Retai (1–4 %) | 1 ligoje |
| RSPH9radial spoke head component 9 | Retai (1–4 %) | 1 ligoje |
| SLC34A2solute carrier family 34 member 2 | Retai (1–4 %) | 1 ligoje |
| SPAG1sperm associated antigen 1 | Retai (1–4 %) | 1 ligoje |
| SPEF2sperm flagellar and cilia associated 2 | Retai (1–4 %) | 1 ligoje |
| STK36serine/threonine kinase 36 | Retai (1–4 %) | 1 ligoje |
| TSC1TSC complex subunit 1 | Retai (1–4 %) | 1 ligoje |
| TSC2TSC complex subunit 2 | Retai (1–4 %) | 1 ligoje |
| TTC12tetratricopeptide repeat domain 12 | Retai (1–4 %) | 1 ligoje |
| ZMYND10zinc finger MYND-type containing 10 | Retai (1–4 %) | 1 ligoje |
| ACVR1activin A receptor type 1 | Neužfiksuota | 1 ligoje |
| ASCC1activating signal cointegrator 1 complex subunit 1 | Neužfiksuota | 1 ligoje |
| CPT2carnitine palmitoyltransferase 2 | Neužfiksuota | 1 ligoje |
| CRYABcrystallin alpha B | Neužfiksuota | 1 ligoje |
| DAG1dystroglycan 1 | Neužfiksuota | 1 ligoje |
| DMDdystrophin | Neužfiksuota | 1 ligoje |
| ERBB3erb-b2 receptor tyrosine kinase 3 | Neužfiksuota | 1 ligoje |
| FLNAfilamin A | Neužfiksuota | 1 ligoje |
| HRASHRas proto-oncogene, GTPase | Neužfiksuota | 1 ligoje |
| IFT81intraflagellar transport 81 | Neužfiksuota | 1 ligoje |
| IGHMBP2immunoglobulin mu DNA binding protein 2 | Neužfiksuota | 1 ligoje |
| INVSinversin | Neužfiksuota | 1 ligoje |
| LTBP3latent transforming growth factor beta binding protein 3 | Neužfiksuota | 1 ligoje |
| NPC2NPC intracellular cholesterol transporter 2 | Neužfiksuota | 1 ligoje |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Neužfiksuota | 1 ligoje |
| SLC25A26solute carrier family 25 member 26 | Neužfiksuota | 1 ligoje |
| SLC6A9solute carrier family 6 member 9 | Neužfiksuota | 1 ligoje |
| SMN1survival of motor neuron 1, telomeric | Neužfiksuota | 1 ligoje |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Neužfiksuota | 1 ligoje |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Neužfiksuota | 2 ligose |
| TTNtitin | Neužfiksuota | 2 ligose |
| TUFMTu translation elongation factor, mitochondrial | Neužfiksuota | 1 ligoje |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
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- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
- Duomenų leidimas 2026.10.16-c6eea6bf.
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