Cecha
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.
Podsumowanie
- Układ organizmu
- Abnormality of the respiratory system
Genom referencyjnyGRCh38hg38
Pozycje na stronach genów i wariantów zależą od tego wyboru, w tej przeglądarce.
Read the genes linked to Respiratory failure, and the rest of your genome, with one test.
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Zamawiam Genome Test272 genów powiązanych z Respiratory failure
Zmiany w tych genach powodują rzadkie choroby, w których występuje Respiratory failure. Większość osób z tą cechą nie ma żadnej z tych chorób, a gen z tej listy nic nie mówi o czyimkolwiek własnym genomie.
| Gen | Jak często występuje | Choroby |
|---|---|---|
| ACTA1actin alpha 1, skeletal muscle | Zawsze | W 4 chorobach |
| AMTaminomethyltransferase | Zawsze | W 1 chorobie |
| ATAD1ATPase family AAA domain containing 1 | Zawsze | W 1 chorobie |
| COL6A2collagen type VI alpha 2 chain | Zawsze | W 2 chorobach |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Zawsze | W 1 chorobie |
| COX15cytochrome c oxidase assembly factor COX15 | Zawsze | W 1 chorobie |
| COX6B1cytochrome c oxidase subunit 6B1 | Zawsze | W 1 chorobie |
| DMRT2doublesex and mab-3 related transcription factor 2 | Zawsze | W 1 chorobie |
| DNM1Ldynamin 1L | Zawsze | W 1 chorobie |
| DSTdystonin | Zawsze | W 1 chorobie |
| EXOSC8exosome component 8 | Zawsze | W 2 chorobach |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Zawsze | W 1 chorobie |
| FASTKD2FASTK mitochondrial RNA regulator 2 | Zawsze | W 1 chorobie |
| FDXRferredoxin reductase | Zawsze | W 1 chorobie |
| GFRA1GDNF family receptor alpha 1 | Zawsze | W 1 chorobie |
| HCKHCK proto-oncogene, Src family tyrosine kinase | Zawsze | W 1 chorobie |
| HSPB8heat shock protein family B (small) member 8 | Zawsze | W 1 chorobie |
| HYDINHYDIN axonemal central pair apparatus protein | Zawsze | W 2 chorobach |
| IFIH1interferon induced with helicase C domain 1 | Zawsze | W 1 chorobie |
| LBX1ladybird homeobox 1 | Zawsze | W 1 chorobie |
| LGI1leucine rich glioma inactivated 1 | Zawsze | W 1 chorobie |
| LYRM7LYR motif containing 7 | Zawsze | W 1 chorobie |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Zawsze | W 1 chorobie |
| MED11mediator complex subunit 11 | Zawsze | W 1 chorobie |
| MEGF10multiple EGF like domains 10 | Zawsze | W 2 chorobach |
| MICOS13mitochondrial contact site and cristae organizing system subunit 13 | Zawsze | W 1 chorobie |
| MT-TNmitochondrially encoded tRNA-Asn (AAU/C) | Zawsze | W 1 chorobie |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Zawsze | W 1 chorobie |
| MYL1myosin light chain 1 | Zawsze | W 1 chorobie |
| NAXENAD(P)HX epimerase | Zawsze | W 2 chorobach |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Zawsze | W 1 chorobie |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Zawsze | W 1 chorobie |
| NEBnebulin | Zawsze | W 3 chorobach |
| NFU1NFU1 iron-sulfur cluster scaffold | Zawsze | W 3 chorobach |
| PDCD1programmed cell death 1 | Zawsze | W 1 chorobie |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Zawsze | W 1 chorobie |
| PEX6peroxisomal biogenesis factor 6 | Zawsze | W 1 chorobie |
| PSAPprosaposin | Zawsze | W 2 chorobach |
| PTCD3pentatricopeptide repeat domain 3 | Zawsze | W 1 chorobie |
| PTCRApre T cell antigen receptor alpha | Zawsze | W 1 chorobie |
Pokaż jeszcze 232 genów
| Gen | Jak często występuje | Choroby |
|---|---|---|
| RMND1required for meiotic nuclear division 1 homolog | Zawsze | W 1 chorobie |
| RNU6ATACRNA, U6atac small nuclear | Zawsze | W 1 chorobie |
| SCO1synthesis of cytochrome C oxidase 1 | Zawsze | W 1 chorobie |
| SCO2synthesis of cytochrome C oxidase 2 | Zawsze | W 2 chorobach |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Zawsze | W 1 chorobie |
| SFTPCsurfactant protein C | Zawsze | W 2 chorobach |
| SURF1SURF1 cytochrome c oxidase assembly factor | Zawsze | W 1 chorobie |
| TACO1translational activator of cytochrome c oxidase I | Zawsze | W 1 chorobie |
| TMEM63Btransmembrane protein 63B | Zawsze | W 1 chorobie |
| TPI1triosephosphate isomerase 1 | Zawsze | W 1 chorobie |
| TRMT10CtRNA methyltransferase 10C, mitochondrial RNase P subunit | Zawsze | W 1 chorobie |
| TSEN54tRNA splicing endonuclease subunit 54 | Zawsze | W 1 chorobie |
| UNC13Aunc-13 homolog A | Zawsze | W 2 chorobach |
| AGTPBP1ATP/GTP binding carboxypeptidase 1 | Bardzo często (80–99%) | W 1 chorobie |
| EXOSC3exosome component 3 | Bardzo często (80–99%) | W 1 chorobie |
| EXOSC9exosome component 9 | Bardzo często (80–99%) | W 1 chorobie |
| GATA2GATA binding protein 2 | Bardzo często (80–99%) | W 1 chorobie |
| HTRA2HtrA serine peptidase 2 | Bardzo często (80–99%) | W 1 chorobie |
| KLHL40kelch like family member 40 | Bardzo często (80–99%) | W 2 chorobach |
| LAMA2laminin subunit alpha 2 | Bardzo często (80–99%) | W 1 chorobie |
| RNU4ATACRNA, U4atac small nuclear | Bardzo często (80–99%) | W 1 chorobie |
| SLC25A46solute carrier family 25 member 46 | Bardzo często (80–99%) | W 2 chorobach |
| UBE3Bubiquitin protein ligase E3B | Bardzo często (80–99%) | W 1 chorobie |
| VRK1VRK serine/threonine kinase 1 | Bardzo często (80–99%) | W 1 chorobie |
| ABCA3ATP binding cassette subfamily A member 3 | Często (30–79%) | W 2 chorobach |
| ANGangiogenin | Często (30–79%) | W 1 chorobie |
| ANXA11annexin A11 | Często (30–79%) | W 1 chorobie |
| ATXN2ataxin 2 | Często (30–79%) | W 1 chorobie |
| BCHEbutyrylcholinesterase | Często (30–79%) | W 1 chorobie |
| BICD2BICD cargo adaptor 2 | Często (30–79%) | W 1 chorobie |
| BOLA3bolA family member 3 | Często (30–79%) | W 2 chorobach |
| CCNFcyclin F | Często (30–79%) | W 1 chorobie |
| CDC45cell division cycle 45 | Często (30–79%) | W 1 chorobie |
| CDC6cell division cycle 6 | Często (30–79%) | W 1 chorobie |
| CDT1chromatin licensing and DNA replication factor 1 | Często (30–79%) | W 1 chorobie |
| CFAP410cilia and flagella associated protein 410 | Często (30–79%) | W 1 chorobie |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Często (30–79%) | W 1 chorobie |
| CHMP2Bcharged multivesicular body protein 2B | Często (30–79%) | W 1 chorobie |
| CNTNAP1contactin associated protein 1 | Często (30–79%) | W 1 chorobie |
| COL12A1collagen type XII alpha 1 chain | Często (30–79%) | W 1 chorobie |
| COL6A1collagen type VI alpha 1 chain | Często (30–79%) | W 1 chorobie |
| COL6A3collagen type VI alpha 3 chain | Często (30–79%) | W 1 chorobie |
| DAOD-amino acid oxidase | Często (30–79%) | W 1 chorobie |
| DCTN1dynactin subunit 1 | Często (30–79%) | W 1 chorobie |
| DLK1delta like non-canonical Notch ligand 1 | Często (30–79%) | W 2 chorobach |
| DNAJB4DnaJ heat shock protein family (Hsp40) member B4 | Często (30–79%) | W 1 chorobie |
| DSPdesmoplakin | Często (30–79%) | W 1 chorobie |
| DTYMKdeoxythymidylate kinase | Często (30–79%) | W 1 chorobie |
| DZIP1LDAZ interacting zinc finger protein 1 like | Często (30–79%) | W 1 chorobie |
| ECHS1enoyl-CoA hydratase, short chain 1 | Często (30–79%) | W 1 chorobie |
| ERBB4erb-b2 receptor tyrosine kinase 4 | Często (30–79%) | W 1 chorobie |
| FAM20CFAM20C golgi associated secretory pathway kinase | Często (30–79%) | W 1 chorobie |
| FHL1four and a half LIM domains 1 | Często (30–79%) | W 1 chorobie |
| FIG4FIG4 phosphoinositide 5-phosphatase | Często (30–79%) | W 1 chorobie |
| FUSFUS RNA binding protein | Często (30–79%) | W 1 chorobie |
| GAAalpha glucosidase | Często (30–79%) | W 1 chorobie |
| GLE1GLE1 RNA export mediator | Często (30–79%) | W 2 chorobach |
| GLSglutaminase | Często (30–79%) | W 1 chorobie |
| GLT8D1glycosyltransferase 8 domain containing 1 | Często (30–79%) | W 1 chorobie |
| GMNNgeminin DNA replication inhibitor | Często (30–79%) | W 1 chorobie |
| GOSR2golgi SNAP receptor complex member 2 | Często (30–79%) | W 1 chorobie |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Często (30–79%) | W 1 chorobie |
| IBA57iron-sulfur cluster assembly factor IBA57 | Często (30–79%) | W 2 chorobach |
| JUPjunction plakoglobin | Często (30–79%) | W 1 chorobie |
| KLHL41kelch like family member 41 | Często (30–79%) | W 2 chorobach |
| LMOD3leiomodin 3 | Często (30–79%) | W 1 chorobie |
| LRP12LDL receptor related protein 12 | Często (30–79%) | W 2 chorobach |
| MATR3matrin 3 | Często (30–79%) | W 1 chorobie |
| MEG3maternally expressed 3 | Często (30–79%) | W 2 chorobach |
| MGME1mitochondrial genome maintenance exonuclease 1 | Często (30–79%) | W 1 chorobie |
| MTR5-methyltetrahydrofolate-homocysteine methyltransferase | Często (30–79%) | W 1 chorobie |
| NDUFAF3NADH:ubiquinone oxidoreductase complex assembly factor 3 | Często (30–79%) | W 1 chorobie |
| NDUFB8NADH:ubiquinone oxidoreductase subunit B8 | Często (30–79%) | W 1 chorobie |
| NEFHneurofilament heavy chain | Często (30–79%) | W 1 chorobie |
| NEK1NIMA related kinase 1 | Często (30–79%) | W 1 chorobie |
| NFS1NFS1 cysteine desulfurase | Często (30–79%) | W 1 chorobie |
| NUP188nucleoporin 188 | Często (30–79%) | W 1 chorobie |
| NUTM2B-AS1NUTM2B antisense RNA 1 | Często (30–79%) | W 1 chorobie |
| OPTNoptineurin | Często (30–79%) | W 2 chorobach |
| ORC1origin recognition complex subunit 1 | Często (30–79%) | W 1 chorobie |
| ORC4origin recognition complex subunit 4 | Często (30–79%) | W 1 chorobie |
| ORC6origin recognition complex subunit 6 | Często (30–79%) | W 1 chorobie |
| PFN1profilin 1 | Często (30–79%) | W 1 chorobie |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Często (30–79%) | W 1 chorobie |
| PKHD1PKHD1 ciliary IPT domain containing fibrocystin/polyductin | Często (30–79%) | W 1 chorobie |
| PRPHperipherin | Często (30–79%) | W 1 chorobie |
| RTL1retrotransposon Gag like 1 | Często (30–79%) | W 2 chorobach |
| SARS2seryl-tRNA synthetase 2, mitochondrial | Często (30–79%) | W 1 chorobie |
| SFTPBsurfactant protein B | Często (30–79%) | W 2 chorobach |
| SMPD1sphingomyelin phosphodiesterase 1 | Często (30–79%) | W 1 chorobie |
| SOD1superoxide dismutase 1 | Często (30–79%) | W 1 chorobie |
| SQSTM1sequestosome 1 | Często (30–79%) | W 1 chorobie |
| TAF15TATA-box binding protein associated factor 15 | Często (30–79%) | W 1 chorobie |
| TAMM41TAM41 mitochondrial translocator assembly and maintenance homolog | Często (30–79%) | W 1 chorobie |
| TARDBPTAR DNA binding protein | Często (30–79%) | W 1 chorobie |
| TBCDtubulin folding cofactor D | Często (30–79%) | W 1 chorobie |
| TBK1TANK binding kinase 1 | Często (30–79%) | W 1 chorobie |
| TMEM70transmembrane protein 70 | Często (30–79%) | W 1 chorobie |
| TPM3tropomyosin 3 | Często (30–79%) | W 2 chorobach |
| TREM2triggering receptor expressed on myeloid cells 2 | Często (30–79%) | W 1 chorobie |
| TSFMTs translation elongation factor, mitochondrial | Często (30–79%) | W 1 chorobie |
| UBQLN2ubiquilin 2 | Często (30–79%) | W 1 chorobie |
| VAPBVAMP associated protein B and C | Często (30–79%) | W 1 chorobie |
| VCPvalosin containing protein | Często (30–79%) | W 2 chorobach |
| ZFPM2zinc finger protein, FOG family member 2 | Często (30–79%) | W 1 chorobie |
| AHCYadenosylhomocysteinase | Czasami (5–29%) | W 1 chorobie |
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Czasami (5–29%) | W 1 chorobie |
| ASAH1N-acylsphingosine amidohydrolase 1 | Czasami (5–29%) | W 1 chorobie |
| ATXN1ataxin 1 | Czasami (5–29%) | W 1 chorobie |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Czasami (5–29%) | W 1 chorobie |
| CLPBClpB family mitochondrial disaggregase | Czasami (5–29%) | W 1 chorobie |
| COX7Bcytochrome c oxidase subunit 7B | Czasami (5–29%) | W 1 chorobie |
| CSPP1centrosome and spindle pole associated protein 1 | Czasami (5–29%) | W 1 chorobie |
| CTSDcathepsin D | Czasami (5–29%) | W 1 chorobie |
| FGFR3fibroblast growth factor receptor 3 | Czasami (5–29%) | W 1 chorobie |
| FKRPfukutin related protein | Czasami (5–29%) | W 2 chorobach |
| FREM2FRAS1 related extracellular matrix 2 | Czasami (5–29%) | W 1 chorobie |
| GALCgalactosylceramidase | Czasami (5–29%) | W 1 chorobie |
| GMPPBGDP-mannose pyrophosphorylase B | Czasami (5–29%) | W 1 chorobie |
| GTPBP3GTP binding protein 3, mitochondrial | Czasami (5–29%) | W 1 chorobie |
| HACD13-hydroxyacyl-CoA dehydratase 1 | Czasami (5–29%) | W 1 chorobie |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Czasami (5–29%) | W 2 chorobach |
| HADHBhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | Czasami (5–29%) | W 1 chorobie |
| HCCSholocytochrome c synthase | Czasami (5–29%) | W 1 chorobie |
| HMOX1heme oxygenase 1 | Czasami (5–29%) | W 1 chorobie |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Czasami (5–29%) | W 1 chorobie |
| IRF4interferon regulatory factor 4 | Czasami (5–29%) | W 1 chorobie |
| ITGA7integrin subunit alpha 7 | Czasami (5–29%) | W 1 chorobie |
| KARS1lysyl-tRNA synthetase 1 | Czasami (5–29%) | W 1 chorobie |
| LAMA3laminin subunit alpha 3 | Czasami (5–29%) | W 1 chorobie |
| LAMB3laminin subunit beta 3 | Czasami (5–29%) | W 1 chorobie |
| LAMC2laminin subunit gamma 2 | Czasami (5–29%) | W 1 chorobie |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Czasami (5–29%) | W 1 chorobie |
| LRPPRCleucine rich pentatricopeptide repeat containing | Czasami (5–29%) | W 1 chorobie |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Czasami (5–29%) | W 1 chorobie |
| MCM4minichromosome maintenance complex component 4 | Czasami (5–29%) | W 1 chorobie |
| MYL2myosin light chain 2 | Czasami (5–29%) | W 1 chorobie |
| MYOTmyotilin | Czasami (5–29%) | W 1 chorobie |
| NBNnibrin | Czasami (5–29%) | W 1 chorobie |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Czasami (5–29%) | W 1 chorobie |
| PLP1proteolipid protein 1 | Czasami (5–29%) | W 1 chorobie |
| POMT1protein O-mannosyltransferase 1 | Czasami (5–29%) | W 1 chorobie |
| POMT2protein O-mannosyltransferase 2 | Czasami (5–29%) | W 1 chorobie |
| RNF168ring finger protein 168 | Czasami (5–29%) | W 1 chorobie |
| RYR1ryanodine receptor 1 | Czasami (5–29%) | W 1 chorobie |
| SELENONselenoprotein N | Czasami (5–29%) | W 1 chorobie |
| SLC2A10solute carrier family 2 member 10 | Czasami (5–29%) | W 1 chorobie |
| SMAD4SMAD family member 4 | Czasami (5–29%) | W 1 chorobie |
| SONSON DNA and RNA binding protein | Czasami (5–29%) | W 1 chorobie |
| TFGtrafficking from ER to golgi regulator | Czasami (5–29%) | W 1 chorobie |
| TPM2tropomyosin 2 | Czasami (5–29%) | W 1 chorobie |
| BLMBLM RecQ like helicase | Rzadko (1–4%) | W 1 chorobie |
| BRWD1bromodomain and WD repeat domain containing 1 | Rzadko (1–4%) | W 1 chorobie |
| CCDC39coiled-coil domain 39 molecular ruler complex subunit | Rzadko (1–4%) | W 1 chorobie |
| CCDC40coiled-coil domain 40 molecular ruler complex subunit | Rzadko (1–4%) | W 1 chorobie |
| CCNOcyclin O | Rzadko (1–4%) | W 1 chorobie |
| CFAP221cilia and flagella associated protein 221 | Rzadko (1–4%) | W 1 chorobie |
| CFAP298cilia and flagella associated protein 298 | Rzadko (1–4%) | W 1 chorobie |
| CFAP300cilia and flagella associated protein 300 | Rzadko (1–4%) | W 1 chorobie |
| CFAP74cilia and flagella associated protein 74 | Rzadko (1–4%) | W 1 chorobie |
| CLXNcalaxin | Rzadko (1–4%) | W 1 chorobie |
| DAW1dynein assembly factor with WD repeats 1 | Rzadko (1–4%) | W 1 chorobie |
| DNAAF1dynein axonemal assembly factor 1 | Rzadko (1–4%) | W 1 chorobie |
| DNAAF11dynein axonemal assembly factor 11 | Rzadko (1–4%) | W 1 chorobie |
| DNAAF19dynein axonemal assembly factor 19 | Rzadko (1–4%) | W 1 chorobie |
| DNAAF2dynein axonemal assembly factor 2 | Rzadko (1–4%) | W 1 chorobie |
| DNAAF3dynein axonemal assembly factor 3 | Rzadko (1–4%) | W 1 chorobie |
| DNAAF4dynein axonemal assembly factor 4 | Rzadko (1–4%) | W 1 chorobie |
| DNAAF5dynein axonemal assembly factor 5 | Rzadko (1–4%) | W 1 chorobie |
| DNAAF6dynein axonemal assembly factor 6 | Rzadko (1–4%) | W 1 chorobie |
| DNAH1dynein axonemal heavy chain 1 | Rzadko (1–4%) | W 1 chorobie |
| DNAH11dynein axonemal heavy chain 11 | Rzadko (1–4%) | W 1 chorobie |
| DNAH5dynein axonemal heavy chain 5 | Rzadko (1–4%) | W 1 chorobie |
| DNAH7dynein axonemal heavy chain 7 | Rzadko (1–4%) | W 1 chorobie |
| DNAH9dynein axonemal heavy chain 9 | Rzadko (1–4%) | W 1 chorobie |
| DNAI1dynein axonemal intermediate chain 1 | Rzadko (1–4%) | W 1 chorobie |
| DNAI2dynein axonemal intermediate chain 2 | Rzadko (1–4%) | W 1 chorobie |
| DNAJB13DnaJ heat shock protein family (Hsp40) member B13 | Rzadko (1–4%) | W 1 chorobie |
| DNAL1dynein axonemal light chain 1 | Rzadko (1–4%) | W 1 chorobie |
| DRC1dynein regulatory complex subunit 1 | Rzadko (1–4%) | W 1 chorobie |
| DRC2dynein regulatory complex subunit 2 | Rzadko (1–4%) | W 1 chorobie |
| DRC4dynein regulatory complex subunit 4 | Rzadko (1–4%) | W 1 chorobie |
| FOXJ1forkhead box J1 | Rzadko (1–4%) | W 1 chorobie |
| GAS2L2growth arrest specific 2 like 2 | Rzadko (1–4%) | W 1 chorobie |
| IFNGinterferon gamma | Rzadko (1–4%) | W 1 chorobie |
| LRRC56leucine rich repeat containing 56 | Rzadko (1–4%) | W 1 chorobie |
| MCIDASmulticiliate differentiation and DNA synthesis associated cell cycle protein | Rzadko (1–4%) | W 1 chorobie |
| MTTPmicrosomal triglyceride transfer protein | Rzadko (1–4%) | W 1 chorobie |
| NEK10NIMA related kinase 10 | Rzadko (1–4%) | W 1 chorobie |
| NKX2-1NK2 homeobox 1 | Rzadko (1–4%) | W 1 chorobie |
| NME5NME/NM23 family member 5 | Rzadko (1–4%) | W 1 chorobie |
| NME8NME/NM23 family member 8 | Rzadko (1–4%) | W 1 chorobie |
| ODAD1outer dynein arm docking complex subunit 1 | Rzadko (1–4%) | W 1 chorobie |
| ODAD2outer dynein arm docking complex subunit 2 | Rzadko (1–4%) | W 1 chorobie |
| ODAD3outer dynein arm docking complex subunit 3 | Rzadko (1–4%) | W 1 chorobie |
| ODAD4outer dynein arm docking complex subunit 4 | Rzadko (1–4%) | W 1 chorobie |
| OFD1OFD1 centriole and centriolar satellite protein | Rzadko (1–4%) | W 1 chorobie |
| RPGRretinitis pigmentosa GTPase regulator | Rzadko (1–4%) | W 1 chorobie |
| RSPH1radial spoke head component 1 | Rzadko (1–4%) | W 1 chorobie |
| RSPH3radial spoke head 3 | Rzadko (1–4%) | W 1 chorobie |
| RSPH4Aradial spoke head component 4A | Rzadko (1–4%) | W 1 chorobie |
| RSPH9radial spoke head component 9 | Rzadko (1–4%) | W 1 chorobie |
| SLC34A2solute carrier family 34 member 2 | Rzadko (1–4%) | W 1 chorobie |
| SPAG1sperm associated antigen 1 | Rzadko (1–4%) | W 1 chorobie |
| SPEF2sperm flagellar and cilia associated 2 | Rzadko (1–4%) | W 1 chorobie |
| STK36serine/threonine kinase 36 | Rzadko (1–4%) | W 1 chorobie |
| TSC1TSC complex subunit 1 | Rzadko (1–4%) | W 1 chorobie |
| TSC2TSC complex subunit 2 | Rzadko (1–4%) | W 1 chorobie |
| TTC12tetratricopeptide repeat domain 12 | Rzadko (1–4%) | W 1 chorobie |
| ZMYND10zinc finger MYND-type containing 10 | Rzadko (1–4%) | W 1 chorobie |
| ACVR1activin A receptor type 1 | Nie odnotowano | W 1 chorobie |
| ASCC1activating signal cointegrator 1 complex subunit 1 | Nie odnotowano | W 1 chorobie |
| CPT2carnitine palmitoyltransferase 2 | Nie odnotowano | W 1 chorobie |
| CRYABcrystallin alpha B | Nie odnotowano | W 1 chorobie |
| DAG1dystroglycan 1 | Nie odnotowano | W 1 chorobie |
| DMDdystrophin | Nie odnotowano | W 1 chorobie |
| ERBB3erb-b2 receptor tyrosine kinase 3 | Nie odnotowano | W 1 chorobie |
| FLNAfilamin A | Nie odnotowano | W 1 chorobie |
| HRASHRas proto-oncogene, GTPase | Nie odnotowano | W 1 chorobie |
| IFT81intraflagellar transport 81 | Nie odnotowano | W 1 chorobie |
| IGHMBP2immunoglobulin mu DNA binding protein 2 | Nie odnotowano | W 1 chorobie |
| INVSinversin | Nie odnotowano | W 1 chorobie |
| LTBP3latent transforming growth factor beta binding protein 3 | Nie odnotowano | W 1 chorobie |
| NPC2NPC intracellular cholesterol transporter 2 | Nie odnotowano | W 1 chorobie |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Nie odnotowano | W 1 chorobie |
| SLC25A26solute carrier family 25 member 26 | Nie odnotowano | W 1 chorobie |
| SLC6A9solute carrier family 6 member 9 | Nie odnotowano | W 1 chorobie |
| SMN1survival of motor neuron 1, telomeric | Nie odnotowano | W 1 chorobie |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Nie odnotowano | W 1 chorobie |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Nie odnotowano | W 2 chorobach |
| TTNtitin | Nie odnotowano | W 2 chorobach |
| TUFMTu translation elongation factor, mitochondrial | Nie odnotowano | W 1 chorobie |
Jak często występuje wśród osób z jedną z chorób związanych z tym genem, najczęściej spośród wszystkich, według danych Human Phenotype Ontology. Te strony opisują cechy i badania, na których się opierają; nie są diagnozą, a w sprawie objawów należy zwrócić się do lekarza lub doradcy genetycznego.
Cechy nadrzędne
Skąd pochodzą te dane
- Human Phenotype Ontology, wydanie 2026-09-01: cecha, jej nazwy, definicja oraz geny z nią powiązane. Więcej informacji znajdą Państwo na stronie hpo.jax.org.
- Wydanie danych 2026.10.16-c6eea6bf.
Jeden test. Odpowiedzi na całe życie.
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