AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Tunnus
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.
Kokkuvõte
- Kehasüsteem
- Abnormality of the respiratory system
AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Selle lehe andmed
Lehe aadressile saab lisada .json või päringusse application/json, et lugeda seda JSON-vormingus.
library(jsonlite)
url <- "https://dantelabs.com/traits/respiratory-failure.json"
page <- fromJSON(url)
page$trait$nameRespiratory failureHP:0002878
AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Lugege välja geenid, mis on seotud Respiratory failure-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test119 condition reports read genes linked to this trait
Dante Labs condition reports look at the genes behind groups of inherited conditions, read from one whole-genome test. Each page says which conditions and genes a report covers, how it is read and what it cannot tell you.
- Primary Ciliary DyskinesiaReads 46 of these genesHYDINCCDC39CCDC40CCNOCFAP221CFAP298About this report →
- Amyotrophic Lateral Sclerosis (ALS)Reads 20 of these genesANGANXA11CCNFCHCHD10CHMP2BDCTN1About this report →
- Inherited Neurodegenerative DisordersReads 50 of these genesDNM1LEXOSC8HSPB8IFIH1MED11NAXEAbout this report →
- Congenital MyopathiesReads 11 of these genesACTA1NEBKLHL40KLHL41LMOD3TPM3About this report →
Show 115 more reports
- Congenital Muscular DystrophiesReads 13 of these genesCOL6A2LAMA2COL12A1COL6A1COL6A3FKRPAbout this report →
- Rare Hereditary Peripheral NeuropathiesReads 36 of these genesCOX10DSTFDXRHSPB8NDUFAF2NDUFS4About this report →
- Primary Mitochondrial DiseaseReads 27 of these genesCOX10COX15COX6B1FASTKD2LYRM7NDUFAF2About this report →
- Spinal Muscular AtrophyReads 12 of these genesEXOSC8HSPB8TSEN54EXOSC3VRK1BICD2About this report →
- Frontotemporal DementiaReads 7 of these genesCCNFCHCHD10CHMP2BHNRNPA1SQSTM1TBK1About this report →
- Distal MyopathiesReads 8 of these genesDNAJB4HNRNPA1LRP12MATR3VCPMYOTAbout this report →
- Leigh SyndromeReads 13 of these genesCOX10NDUFAF2NDUFS4PDHA1SCO2SURF1About this report →
- Limb-Girdle Muscular DystrophyReads 9 of these genesCOL6A2LAMA2COL6A1COL6A3FKRPGMPPBAbout this report →
- Tuberous SclerosisReads 2 of these genesTSC1TSC2About this report →
- Myofibrillar MyopathiesReads 5 of these genesHSPB8MYOTRYR1CRYABTTNAbout this report →
- Epidermolysis BullosaReads 6 of these genesDSTDSPJUPLAMA3LAMB3LAMC2About this report →
- Pontocerebellar Hypoplasia (TSEN54 and MINPP1)Reads 6 of these genesEXOSC8TSEN54EXOSC3EXOSC9SLC25A46VRK1About this report →
- Charcot-Marie-Tooth DiseaseReads 11 of these genesHSPB8SCO2SURF1VRK1DCTN1FIG4About this report →
- Surfactant Metabolism DysfunctionReads 3 of these genesSFTPCABCA3SFTPBAbout this report →
- 3-Methylglutaconic Aciduria Type 8 (HTRA2)Reads 1 of these genesHTRA2About this report →
- Acid Sphingomyelinase Deficiency (Niemann-Pick Disease Types A and B)Reads 1 of these genesSMPD1About this report →
- Amyotrophic Lateral Sclerosis Susceptibility 24 (NEK1)Reads 1 of these genesNEK1About this report →
- Bloom SyndromeReads 1 of these genesBLMAbout this report →
- Butyrylcholinesterase DeficiencyReads 1 of these genesBCHEAbout this report →
- Dystrophinopathies (Duchenne and Becker Muscular Dystrophy)Reads 1 of these genesDMDAbout this report →
- ECHS1 DeficiencyReads 1 of these genesECHS1About this report →
- FDXR-Related Mitochondrial DisorderReads 1 of these genesFDXRAbout this report →
- FGFR3-Related Chondrodysplasias (Achondroplasia and Related Conditions)Reads 1 of these genesFGFR3About this report →
- Glutaminase DeficiencyReads 1 of these genesGLSAbout this report →
- Kaufman Oculocerebrofacial SyndromeReads 1 of these genesUBE3BAbout this report →
- Krabbe DiseaseReads 1 of these genesGALCAbout this report →
- MEGF10-Related MyopathyReads 1 of these genesMEGF10About this report →
- Meier-Gorlin Syndrome 3 (ORC6)Reads 1 of these genesORC6About this report →
- Meier-Gorlin Syndrome 4Reads 1 of these genesCDT1About this report →
- Meier-Gorlin Syndrome 7 (CDC45)Reads 1 of these genesCDC45About this report →
- OFD1-Related CiliopathyReads 1 of these genesOFD1About this report →
- OPTN-Related Normal-Tension GlaucomaReads 1 of these genesOPTNAbout this report →
- Pompe DiseaseReads 1 of these genesGAAAbout this report →
- Pulmonary Alveolar MicrolithiasisReads 1 of these genesSLC34A2About this report →
- Raine SyndromeReads 1 of these genesFAM20CAbout this report →
- RNU4ATAC Spectrum DisorderReads 1 of these genesRNU4ATACAbout this report →
- Sandestig-Stefanova SyndromeReads 1 of these genesNUP188About this report →
- TRPV4-Related Skeletal DysplasiasReads 1 of these genesTRPV4About this report →
- UNC13A-Related Neurodevelopmental DisordersReads 1 of these genesUNC13AAbout this report →
- ZTTK SyndromeReads 1 of these genesSONAbout this report →
- Lysosomal Storage DiseaseReads 7 of these genesPSAPGAASMPD1ASAH1CTSDGALCAbout this report →
- Hereditary Visceral Myopathy, CIPO & MMIHSReads 2 of these genesERBB3FLNAAbout this report →
- Fatty Acid Oxidation & Carnitine Cycle DisordersReads 3 of these genesHADHAHADHBCPT2About this report →
- Disorders of Glycine & Serine MetabolismReads 2 of these genesAMTSLC6A9About this report →
- Encephalopathy due to Mitochondrial and Peroxisomal Fission DefectReads 1 of these genesDNM1LAbout this report →
- Fibrodysplasia Ossificans ProgressivaReads 1 of these genesACVR1About this report →
- Juvenile Polyposis SyndromeReads 1 of these genesSMAD4About this report →
- Malignant Hyperthermia SusceptibilityReads 1 of these genesRYR1About this report →
- Metachromatic LeukodystrophyReads 1 of these genesPSAPAbout this report →
- Niemann-Pick Disease Type CReads 1 of these genesNPC2About this report →
- Congenital Disorders of GlycosylationReads 7 of these genesPIGAALG1FKRPGMPPBPOMT1POMT2About this report →
- Other Inherited LeukodystrophiesReads 6 of these genesIFIH1PEX6PSAPTREM2GALCPLP1About this report →
- Arrhythmogenic CardiomyopathyReads 2 of these genesDSPJUPAbout this report →
- Polycystic Kidney DiseaseReads 2 of these genesDZIP1LPKHD1About this report →
- Congenital Diaphragmatic Hernia (Monogenic)Reads 1 of these genesZFPM2About this report →
- Fraser SyndromeReads 1 of these genesFREM2About this report →
- Immuno-Osseous DysplasiasReads 1 of these genesRNU4ATACAbout this report →
- Monogenic Precocious PubertyReads 1 of these genesDLK1About this report →
- Tetralogy of FallotReads 1 of these genesZFPM2About this report →
- Microphthalmia, Anophthalmia & ColobomaReads 3 of these genesCOX7BHCCSNDUFB11About this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 4 of these genesPEX6CSPP1RNF168MTTPAbout this report →
- Hypertrophic CardiomyopathyReads 4 of these genesZFPM2HADHAMYL2HRASAbout this report →
- Adult-Onset Leukodystrophies (CSF1R, LMNB1, Nasu-Hakola)Reads 1 of these genesTREM2About this report →
- Familial Paget Disease of BoneReads 1 of these genesSQSTM1About this report →
- Hereditary Hemorrhagic TelangiectasiaReads 1 of these genesSMAD4About this report →
- Inherited Predisposition to Myeloid Blood CancersReads 1 of these genesGATA2About this report →
- Homocystinuria & Cobalamin DisordersReads 2 of these genesMTRAHCYAbout this report →
- Alzheimer diseaseReads 1 of these genesTREM2About this report →
- Periventricular Nodular HeterotopiaReads 1 of these genesFLNAAbout this report →
- Epilepsy (Full Panel)Reads 6 of these genesLGI1TMEM63BGLSGOSR2PIGAFLNAAbout this report →
- Dilated CardiomyopathyReads 3 of these genesFHL1DMDTTNAbout this report →
- Hereditary HypolipoproteinemiasReads 1 of these genesMTTPAbout this report →
- Inherited Predisposition to Acute Myeloid LeukaemiaReads 1 of these genesGATA2About this report →
- Hereditary Spastic ParaplegiaReads 3 of these genesBSCL2PLP1TFGAbout this report →
- Aicardi-Goutieres SyndromeReads 1 of these genesIFIH1About this report →
- GlaucomaReads 1 of these genesOPTNAbout this report →
- Pyruvate Kinase Deficiency and Other Red Cell Enzyme DisordersReads 1 of these genesTPI1About this report →
- Other Inborn Errors of ImmunityReads 5 of these genesIFIH1PTCRAGATA2IRF4MCM4About this report →
- Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)Reads 2 of these genesATXN2ATXN1About this report →
- Pyruvate Dehydrogenase & Pyruvate Carboxylase DeficiencyReads 1 of these genesPDHA1About this report →
- Joubert Syndrome And Related DisordersReads 2 of these genesCSPP1OFD1About this report →
- Intellectual DisabilityReads 5 of these genesEXOSC8EXOSC3VRK1ERBB4SMAD4About this report →
- Male InfertilityReads 2 of these genesDNAH1SPEF2About this report →
- Congenital Anomalies of the Kidney and Urinary TractReads 1 of these genesGFRA1About this report →
- Heterotaxy & Laterality DefectsReads 1 of these genesDAW1About this report →
- LipodystrophyReads 1 of these genesBSCL2About this report →
- Severe Congenital NeutropeniaReads 1 of these genesCLPBAbout this report →
- Type I InterferonopathiesReads 1 of these genesIFIH1About this report →
- Hereditary Optic NeuropathyReads 1 of these genesDNM1LAbout this report →
- Inherited Congenital Heart DefectsReads 1 of these genesFLNAAbout this report →
- Neuronal Ceroid LipofuscinosisReads 1 of these genesCTSDAbout this report →
- OsteopetrosisReads 1 of these genesOSTM1About this report →
- Zellweger Spectrum & Peroxisome Biogenesis DisordersReads 1 of these genesPEX6About this report →
- Cutis LaxaReads 1 of these genesSLC2A10About this report →
- Amelogenesis ImperfectaReads 1 of these genesLAMB3About this report →
- 46,XY Differences of Sex Development and Gonadal DysgenesisReads 1 of these genesZFPM2About this report →
- Retinitis PigmentosaReads 2 of these genesOFD1RPGRAbout this report →
- Congenital HypothyroidismReads 1 of these genesNKX2-1About this report →
- GPI Anchor Biosynthesis DefectsReads 1 of these genesPIGAAbout this report →
- Neonatal Diabetes MellitusReads 1 of these genesBSCL2About this report →
- Nephronophthisis and Senior-Løken SyndromeReads 1 of these genesINVSAbout this report →
- Ehlers-Danlos SyndromeReads 1 of these genesCOL12A1About this report →
- Hereditary Sensory and Autonomic Neuropathies (incl. Familial Dysautonomia)Reads 1 of these genesDSTAbout this report →
- Noonan SyndromeReads 1 of these genesHRASAbout this report →
- Hereditary Congenital & Juvenile CataractReads 1 of these genesCRYABAbout this report →
- Syndromic CraniosynostosisReads 1 of these genesFGFR3About this report →
- Pelizaeus-Merzbacher Disease & Hypomyelinating LeukodystrophiesReads 1 of these genesPLP1About this report →
- Congenital Myasthenic SyndromeReads 1 of these genesGMPPBAbout this report →
- Diabetes MellitusReads 1 of these genesBSCL2About this report →
- Osteogenesis ImperfectaReads 1 of these genesIFIH1About this report →
- Rare Monogenic Autoinflammatory DiseasesReads 1 of these genesIFIH1About this report →
- Hereditary Palmoplantar Keratodermas and Pachyonychia CongenitaReads 1 of these genesDSPAbout this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 1 of these genesCOL6A3About this report →
- DNA Repair DiseaseReads 1 of these genesNBNAbout this report →
- Hearing Loss and DeafnessReads 1 of these genesKARS1About this report →
Lugege välja geenid, mis on seotud Respiratory failure-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test272 geeni on seotud tunnusega Respiratory failure
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Respiratory failure. Enamikul selle tunnusega inimestest ei ole ühtegi neist haigustest. Selles loendis olev geen ei ütle midagi kellegi enda genoomi kohta.
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| ACTA1actin alpha 1, skeletal muscle | Alati | Esineb 4 haiguses |
| AMTaminomethyltransferase | Alati | Esineb 1 haiguses |
| ATAD1ATPase family AAA domain containing 1 | Alati | Esineb 1 haiguses |
| COL6A2collagen type VI alpha 2 chain | Alati | Esineb 2 haiguses |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Alati | Esineb 1 haiguses |
| COX15cytochrome c oxidase assembly factor COX15 | Alati | Esineb 1 haiguses |
| COX6B1cytochrome c oxidase subunit 6B1 | Alati | Esineb 1 haiguses |
| DMRT2doublesex and mab-3 related transcription factor 2 | Alati | Esineb 1 haiguses |
| DNM1Ldynamin 1L | Alati | Esineb 1 haiguses |
| DSTdystonin | Alati | Esineb 1 haiguses |
| EXOSC8exosome component 8 | Alati | Esineb 2 haiguses |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Alati | Esineb 1 haiguses |
| FASTKD2FASTK mitochondrial RNA regulator 2 | Alati | Esineb 1 haiguses |
| FDXRferredoxin reductase | Alati | Esineb 1 haiguses |
| GFRA1GDNF family receptor alpha 1 | Alati | Esineb 1 haiguses |
| HCKHCK proto-oncogene, Src family tyrosine kinase | Alati | Esineb 1 haiguses |
| HSPB8heat shock protein family B (small) member 8 | Alati | Esineb 1 haiguses |
| HYDINHYDIN axonemal central pair apparatus protein | Alati | Esineb 2 haiguses |
| IFIH1interferon induced with helicase C domain 1 | Alati | Esineb 1 haiguses |
| LBX1ladybird homeobox 1 | Alati | Esineb 1 haiguses |
| LGI1leucine rich glioma inactivated 1 | Alati | Esineb 1 haiguses |
| LYRM7LYR motif containing 7 | Alati | Esineb 1 haiguses |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Alati | Esineb 1 haiguses |
| MED11mediator complex subunit 11 | Alati | Esineb 1 haiguses |
| MEGF10multiple EGF like domains 10 | Alati | Esineb 2 haiguses |
| MICOS13mitochondrial contact site and cristae organizing system subunit 13 | Alati | Esineb 1 haiguses |
| MT-TNmitochondrially encoded tRNA-Asn (AAU/C) | Alati | Esineb 1 haiguses |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Alati | Esineb 1 haiguses |
| MYL1myosin light chain 1 | Alati | Esineb 1 haiguses |
| NAXENAD(P)HX epimerase | Alati | Esineb 2 haiguses |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Alati | Esineb 1 haiguses |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Alati | Esineb 1 haiguses |
| NEBnebulin | Alati | Esineb 3 haiguses |
| NFU1NFU1 iron-sulfur cluster scaffold | Alati | Esineb 3 haiguses |
| PDCD1programmed cell death 1 | Alati | Esineb 1 haiguses |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Alati | Esineb 1 haiguses |
| PEX6peroxisomal biogenesis factor 6 | Alati | Esineb 1 haiguses |
| PSAPprosaposin | Alati | Esineb 2 haiguses |
| PTCD3pentatricopeptide repeat domain 3 | Alati | Esineb 1 haiguses |
| PTCRApre T cell antigen receptor alpha | Alati | Esineb 1 haiguses |
Näita veel 232 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| RMND1required for meiotic nuclear division 1 homolog | Alati | Esineb 1 haiguses |
| RNU6ATACRNA, U6atac small nuclear | Alati | Esineb 1 haiguses |
| SCO1synthesis of cytochrome C oxidase 1 | Alati | Esineb 1 haiguses |
| SCO2synthesis of cytochrome C oxidase 2 | Alati | Esineb 2 haiguses |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Alati | Esineb 1 haiguses |
| SFTPCsurfactant protein C | Alati | Esineb 2 haiguses |
| SURF1SURF1 cytochrome c oxidase assembly factor | Alati | Esineb 1 haiguses |
| TACO1translational activator of cytochrome c oxidase I | Alati | Esineb 1 haiguses |
| TMEM63Btransmembrane protein 63B | Alati | Esineb 1 haiguses |
| TPI1triosephosphate isomerase 1 | Alati | Esineb 1 haiguses |
| TRMT10CtRNA methyltransferase 10C, mitochondrial RNase P subunit | Alati | Esineb 1 haiguses |
| TSEN54tRNA splicing endonuclease subunit 54 | Alati | Esineb 1 haiguses |
| UNC13Aunc-13 homolog A | Alati | Esineb 2 haiguses |
| AGTPBP1ATP/GTP binding carboxypeptidase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| EXOSC3exosome component 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| EXOSC9exosome component 9 | Väga sageli (80–99%) | Esineb 1 haiguses |
| GATA2GATA binding protein 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| HTRA2HtrA serine peptidase 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| KLHL40kelch like family member 40 | Väga sageli (80–99%) | Esineb 2 haiguses |
| LAMA2laminin subunit alpha 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RNU4ATACRNA, U4atac small nuclear | Väga sageli (80–99%) | Esineb 1 haiguses |
| SLC25A46solute carrier family 25 member 46 | Väga sageli (80–99%) | Esineb 2 haiguses |
| UBE3Bubiquitin protein ligase E3B | Väga sageli (80–99%) | Esineb 1 haiguses |
| VRK1VRK serine/threonine kinase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ABCA3ATP binding cassette subfamily A member 3 | Sageli (30–79%) | Esineb 2 haiguses |
| ANGangiogenin | Sageli (30–79%) | Esineb 1 haiguses |
| ANXA11annexin A11 | Sageli (30–79%) | Esineb 1 haiguses |
| ATXN2ataxin 2 | Sageli (30–79%) | Esineb 1 haiguses |
| BCHEbutyrylcholinesterase | Sageli (30–79%) | Esineb 1 haiguses |
| BICD2BICD cargo adaptor 2 | Sageli (30–79%) | Esineb 1 haiguses |
| BOLA3bolA family member 3 | Sageli (30–79%) | Esineb 2 haiguses |
| CCNFcyclin F | Sageli (30–79%) | Esineb 1 haiguses |
| CDC45cell division cycle 45 | Sageli (30–79%) | Esineb 1 haiguses |
| CDC6cell division cycle 6 | Sageli (30–79%) | Esineb 1 haiguses |
| CDT1chromatin licensing and DNA replication factor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| CFAP410cilia and flagella associated protein 410 | Sageli (30–79%) | Esineb 1 haiguses |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Sageli (30–79%) | Esineb 1 haiguses |
| CHMP2Bcharged multivesicular body protein 2B | Sageli (30–79%) | Esineb 1 haiguses |
| CNTNAP1contactin associated protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| COL12A1collagen type XII alpha 1 chain | Sageli (30–79%) | Esineb 1 haiguses |
| COL6A1collagen type VI alpha 1 chain | Sageli (30–79%) | Esineb 1 haiguses |
| COL6A3collagen type VI alpha 3 chain | Sageli (30–79%) | Esineb 1 haiguses |
| DAOD-amino acid oxidase | Sageli (30–79%) | Esineb 1 haiguses |
| DCTN1dynactin subunit 1 | Sageli (30–79%) | Esineb 1 haiguses |
| DLK1delta like non-canonical Notch ligand 1 | Sageli (30–79%) | Esineb 2 haiguses |
| DNAJB4DnaJ heat shock protein family (Hsp40) member B4 | Sageli (30–79%) | Esineb 1 haiguses |
| DSPdesmoplakin | Sageli (30–79%) | Esineb 1 haiguses |
| DTYMKdeoxythymidylate kinase | Sageli (30–79%) | Esineb 1 haiguses |
| DZIP1LDAZ interacting zinc finger protein 1 like | Sageli (30–79%) | Esineb 1 haiguses |
| ECHS1enoyl-CoA hydratase, short chain 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ERBB4erb-b2 receptor tyrosine kinase 4 | Sageli (30–79%) | Esineb 1 haiguses |
| FAM20CFAM20C golgi associated secretory pathway kinase | Sageli (30–79%) | Esineb 1 haiguses |
| FHL1four and a half LIM domains 1 | Sageli (30–79%) | Esineb 1 haiguses |
| FIG4FIG4 phosphoinositide 5-phosphatase | Sageli (30–79%) | Esineb 1 haiguses |
| FUSFUS RNA binding protein | Sageli (30–79%) | Esineb 1 haiguses |
| GAAalpha glucosidase | Sageli (30–79%) | Esineb 1 haiguses |
| GLE1GLE1 RNA export mediator | Sageli (30–79%) | Esineb 2 haiguses |
| GLSglutaminase | Sageli (30–79%) | Esineb 1 haiguses |
| GLT8D1glycosyltransferase 8 domain containing 1 | Sageli (30–79%) | Esineb 1 haiguses |
| GMNNgeminin DNA replication inhibitor | Sageli (30–79%) | Esineb 1 haiguses |
| GOSR2golgi SNAP receptor complex member 2 | Sageli (30–79%) | Esineb 1 haiguses |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Sageli (30–79%) | Esineb 1 haiguses |
| IBA57iron-sulfur cluster assembly factor IBA57 | Sageli (30–79%) | Esineb 2 haiguses |
| JUPjunction plakoglobin | Sageli (30–79%) | Esineb 1 haiguses |
| KLHL41kelch like family member 41 | Sageli (30–79%) | Esineb 2 haiguses |
| LMOD3leiomodin 3 | Sageli (30–79%) | Esineb 1 haiguses |
| LRP12LDL receptor related protein 12 | Sageli (30–79%) | Esineb 2 haiguses |
| MATR3matrin 3 | Sageli (30–79%) | Esineb 1 haiguses |
| MEG3maternally expressed 3 | Sageli (30–79%) | Esineb 2 haiguses |
| MGME1mitochondrial genome maintenance exonuclease 1 | Sageli (30–79%) | Esineb 1 haiguses |
| MTR5-methyltetrahydrofolate-homocysteine methyltransferase | Sageli (30–79%) | Esineb 1 haiguses |
| NDUFAF3NADH:ubiquinone oxidoreductase complex assembly factor 3 | Sageli (30–79%) | Esineb 1 haiguses |
| NDUFB8NADH:ubiquinone oxidoreductase subunit B8 | Sageli (30–79%) | Esineb 1 haiguses |
| NEFHneurofilament heavy chain | Sageli (30–79%) | Esineb 1 haiguses |
| NEK1NIMA related kinase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| NFS1NFS1 cysteine desulfurase | Sageli (30–79%) | Esineb 1 haiguses |
| NUP188nucleoporin 188 | Sageli (30–79%) | Esineb 1 haiguses |
| NUTM2B-AS1NUTM2B antisense RNA 1 | Sageli (30–79%) | Esineb 1 haiguses |
| OPTNoptineurin | Sageli (30–79%) | Esineb 2 haiguses |
| ORC1origin recognition complex subunit 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ORC4origin recognition complex subunit 4 | Sageli (30–79%) | Esineb 1 haiguses |
| ORC6origin recognition complex subunit 6 | Sageli (30–79%) | Esineb 1 haiguses |
| PFN1profilin 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Sageli (30–79%) | Esineb 1 haiguses |
| PKHD1PKHD1 ciliary IPT domain containing fibrocystin/polyductin | Sageli (30–79%) | Esineb 1 haiguses |
| PRPHperipherin | Sageli (30–79%) | Esineb 1 haiguses |
| RTL1retrotransposon Gag like 1 | Sageli (30–79%) | Esineb 2 haiguses |
| SARS2seryl-tRNA synthetase 2, mitochondrial | Sageli (30–79%) | Esineb 1 haiguses |
| SFTPBsurfactant protein B | Sageli (30–79%) | Esineb 2 haiguses |
| SMPD1sphingomyelin phosphodiesterase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SOD1superoxide dismutase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SQSTM1sequestosome 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TAF15TATA-box binding protein associated factor 15 | Sageli (30–79%) | Esineb 1 haiguses |
| TAMM41TAM41 mitochondrial translocator assembly and maintenance homolog | Sageli (30–79%) | Esineb 1 haiguses |
| TARDBPTAR DNA binding protein | Sageli (30–79%) | Esineb 1 haiguses |
| TBCDtubulin folding cofactor D | Sageli (30–79%) | Esineb 1 haiguses |
| TBK1TANK binding kinase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TMEM70transmembrane protein 70 | Sageli (30–79%) | Esineb 1 haiguses |
| TPM3tropomyosin 3 | Sageli (30–79%) | Esineb 2 haiguses |
| TREM2triggering receptor expressed on myeloid cells 2 | Sageli (30–79%) | Esineb 1 haiguses |
| TSFMTs translation elongation factor, mitochondrial | Sageli (30–79%) | Esineb 1 haiguses |
| UBQLN2ubiquilin 2 | Sageli (30–79%) | Esineb 1 haiguses |
| VAPBVAMP associated protein B and C | Sageli (30–79%) | Esineb 1 haiguses |
| VCPvalosin containing protein | Sageli (30–79%) | Esineb 2 haiguses |
| ZFPM2zinc finger protein, FOG family member 2 | Sageli (30–79%) | Esineb 1 haiguses |
| AHCYadenosylhomocysteinase | Mõnikord (5–29%) | Esineb 1 haiguses |
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| ASAH1N-acylsphingosine amidohydrolase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATXN1ataxin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Mõnikord (5–29%) | Esineb 1 haiguses |
| CLPBClpB family mitochondrial disaggregase | Mõnikord (5–29%) | Esineb 1 haiguses |
| COX7Bcytochrome c oxidase subunit 7B | Mõnikord (5–29%) | Esineb 1 haiguses |
| CSPP1centrosome and spindle pole associated protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CTSDcathepsin D | Mõnikord (5–29%) | Esineb 1 haiguses |
| FGFR3fibroblast growth factor receptor 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FKRPfukutin related protein | Mõnikord (5–29%) | Esineb 2 haiguses |
| FREM2FRAS1 related extracellular matrix 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GALCgalactosylceramidase | Mõnikord (5–29%) | Esineb 1 haiguses |
| GMPPBGDP-mannose pyrophosphorylase B | Mõnikord (5–29%) | Esineb 1 haiguses |
| GTPBP3GTP binding protein 3, mitochondrial | Mõnikord (5–29%) | Esineb 1 haiguses |
| HACD13-hydroxyacyl-CoA dehydratase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Mõnikord (5–29%) | Esineb 2 haiguses |
| HADHBhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | Mõnikord (5–29%) | Esineb 1 haiguses |
| HCCSholocytochrome c synthase | Mõnikord (5–29%) | Esineb 1 haiguses |
| HMOX1heme oxygenase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Mõnikord (5–29%) | Esineb 1 haiguses |
| IRF4interferon regulatory factor 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ITGA7integrin subunit alpha 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KARS1lysyl-tRNA synthetase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LAMA3laminin subunit alpha 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LAMB3laminin subunit beta 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LAMC2laminin subunit gamma 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LRPPRCleucine rich pentatricopeptide repeat containing | Mõnikord (5–29%) | Esineb 1 haiguses |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MCM4minichromosome maintenance complex component 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MYL2myosin light chain 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MYOTmyotilin | Mõnikord (5–29%) | Esineb 1 haiguses |
| NBNnibrin | Mõnikord (5–29%) | Esineb 1 haiguses |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PLP1proteolipid protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| POMT1protein O-mannosyltransferase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| POMT2protein O-mannosyltransferase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RNF168ring finger protein 168 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RYR1ryanodine receptor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SELENONselenoprotein N | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC2A10solute carrier family 2 member 10 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SMAD4SMAD family member 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SONSON DNA and RNA binding protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| TFGtrafficking from ER to golgi regulator | Mõnikord (5–29%) | Esineb 1 haiguses |
| TPM2tropomyosin 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BLMBLM RecQ like helicase | Harva (1–4%) | Esineb 1 haiguses |
| BRWD1bromodomain and WD repeat domain containing 1 | Harva (1–4%) | Esineb 1 haiguses |
| CCDC39coiled-coil domain 39 molecular ruler complex subunit | Harva (1–4%) | Esineb 1 haiguses |
| CCDC40coiled-coil domain 40 molecular ruler complex subunit | Harva (1–4%) | Esineb 1 haiguses |
| CCNOcyclin O | Harva (1–4%) | Esineb 1 haiguses |
| CFAP221cilia and flagella associated protein 221 | Harva (1–4%) | Esineb 1 haiguses |
| CFAP298cilia and flagella associated protein 298 | Harva (1–4%) | Esineb 1 haiguses |
| CFAP300cilia and flagella associated protein 300 | Harva (1–4%) | Esineb 1 haiguses |
| CFAP74cilia and flagella associated protein 74 | Harva (1–4%) | Esineb 1 haiguses |
| CLXNcalaxin | Harva (1–4%) | Esineb 1 haiguses |
| DAW1dynein assembly factor with WD repeats 1 | Harva (1–4%) | Esineb 1 haiguses |
| DNAAF1dynein axonemal assembly factor 1 | Harva (1–4%) | Esineb 1 haiguses |
| DNAAF11dynein axonemal assembly factor 11 | Harva (1–4%) | Esineb 1 haiguses |
| DNAAF19dynein axonemal assembly factor 19 | Harva (1–4%) | Esineb 1 haiguses |
| DNAAF2dynein axonemal assembly factor 2 | Harva (1–4%) | Esineb 1 haiguses |
| DNAAF3dynein axonemal assembly factor 3 | Harva (1–4%) | Esineb 1 haiguses |
| DNAAF4dynein axonemal assembly factor 4 | Harva (1–4%) | Esineb 1 haiguses |
| DNAAF5dynein axonemal assembly factor 5 | Harva (1–4%) | Esineb 1 haiguses |
| DNAAF6dynein axonemal assembly factor 6 | Harva (1–4%) | Esineb 1 haiguses |
| DNAH1dynein axonemal heavy chain 1 | Harva (1–4%) | Esineb 1 haiguses |
| DNAH11dynein axonemal heavy chain 11 | Harva (1–4%) | Esineb 1 haiguses |
| DNAH5dynein axonemal heavy chain 5 | Harva (1–4%) | Esineb 1 haiguses |
| DNAH7dynein axonemal heavy chain 7 | Harva (1–4%) | Esineb 1 haiguses |
| DNAH9dynein axonemal heavy chain 9 | Harva (1–4%) | Esineb 1 haiguses |
| DNAI1dynein axonemal intermediate chain 1 | Harva (1–4%) | Esineb 1 haiguses |
| DNAI2dynein axonemal intermediate chain 2 | Harva (1–4%) | Esineb 1 haiguses |
| DNAJB13DnaJ heat shock protein family (Hsp40) member B13 | Harva (1–4%) | Esineb 1 haiguses |
| DNAL1dynein axonemal light chain 1 | Harva (1–4%) | Esineb 1 haiguses |
| DRC1dynein regulatory complex subunit 1 | Harva (1–4%) | Esineb 1 haiguses |
| DRC2dynein regulatory complex subunit 2 | Harva (1–4%) | Esineb 1 haiguses |
| DRC4dynein regulatory complex subunit 4 | Harva (1–4%) | Esineb 1 haiguses |
| FOXJ1forkhead box J1 | Harva (1–4%) | Esineb 1 haiguses |
| GAS2L2growth arrest specific 2 like 2 | Harva (1–4%) | Esineb 1 haiguses |
| IFNGinterferon gamma | Harva (1–4%) | Esineb 1 haiguses |
| LRRC56leucine rich repeat containing 56 | Harva (1–4%) | Esineb 1 haiguses |
| MCIDASmulticiliate differentiation and DNA synthesis associated cell cycle protein | Harva (1–4%) | Esineb 1 haiguses |
| MTTPmicrosomal triglyceride transfer protein | Harva (1–4%) | Esineb 1 haiguses |
| NEK10NIMA related kinase 10 | Harva (1–4%) | Esineb 1 haiguses |
| NKX2-1NK2 homeobox 1 | Harva (1–4%) | Esineb 1 haiguses |
| NME5NME/NM23 family member 5 | Harva (1–4%) | Esineb 1 haiguses |
| NME8NME/NM23 family member 8 | Harva (1–4%) | Esineb 1 haiguses |
| ODAD1outer dynein arm docking complex subunit 1 | Harva (1–4%) | Esineb 1 haiguses |
| ODAD2outer dynein arm docking complex subunit 2 | Harva (1–4%) | Esineb 1 haiguses |
| ODAD3outer dynein arm docking complex subunit 3 | Harva (1–4%) | Esineb 1 haiguses |
| ODAD4outer dynein arm docking complex subunit 4 | Harva (1–4%) | Esineb 1 haiguses |
| OFD1OFD1 centriole and centriolar satellite protein | Harva (1–4%) | Esineb 1 haiguses |
| RPGRretinitis pigmentosa GTPase regulator | Harva (1–4%) | Esineb 1 haiguses |
| RSPH1radial spoke head component 1 | Harva (1–4%) | Esineb 1 haiguses |
| RSPH3radial spoke head 3 | Harva (1–4%) | Esineb 1 haiguses |
| RSPH4Aradial spoke head component 4A | Harva (1–4%) | Esineb 1 haiguses |
| RSPH9radial spoke head component 9 | Harva (1–4%) | Esineb 1 haiguses |
| SLC34A2solute carrier family 34 member 2 | Harva (1–4%) | Esineb 1 haiguses |
| SPAG1sperm associated antigen 1 | Harva (1–4%) | Esineb 1 haiguses |
| SPEF2sperm flagellar and cilia associated 2 | Harva (1–4%) | Esineb 1 haiguses |
| STK36serine/threonine kinase 36 | Harva (1–4%) | Esineb 1 haiguses |
| TSC1TSC complex subunit 1 | Harva (1–4%) | Esineb 1 haiguses |
| TSC2TSC complex subunit 2 | Harva (1–4%) | Esineb 1 haiguses |
| TTC12tetratricopeptide repeat domain 12 | Harva (1–4%) | Esineb 1 haiguses |
| ZMYND10zinc finger MYND-type containing 10 | Harva (1–4%) | Esineb 1 haiguses |
| ACVR1activin A receptor type 1 | Pole registreeritud | Esineb 1 haiguses |
| ASCC1activating signal cointegrator 1 complex subunit 1 | Pole registreeritud | Esineb 1 haiguses |
| CPT2carnitine palmitoyltransferase 2 | Pole registreeritud | Esineb 1 haiguses |
| CRYABcrystallin alpha B | Pole registreeritud | Esineb 1 haiguses |
| DAG1dystroglycan 1 | Pole registreeritud | Esineb 1 haiguses |
| DMDdystrophin | Pole registreeritud | Esineb 1 haiguses |
| ERBB3erb-b2 receptor tyrosine kinase 3 | Pole registreeritud | Esineb 1 haiguses |
| FLNAfilamin A | Pole registreeritud | Esineb 1 haiguses |
| HRASHRas proto-oncogene, GTPase | Pole registreeritud | Esineb 1 haiguses |
| IFT81intraflagellar transport 81 | Pole registreeritud | Esineb 1 haiguses |
| IGHMBP2immunoglobulin mu DNA binding protein 2 | Pole registreeritud | Esineb 1 haiguses |
| INVSinversin | Pole registreeritud | Esineb 1 haiguses |
| LTBP3latent transforming growth factor beta binding protein 3 | Pole registreeritud | Esineb 1 haiguses |
| NPC2NPC intracellular cholesterol transporter 2 | Pole registreeritud | Esineb 1 haiguses |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Pole registreeritud | Esineb 1 haiguses |
| SLC25A26solute carrier family 25 member 26 | Pole registreeritud | Esineb 1 haiguses |
| SLC6A9solute carrier family 6 member 9 | Pole registreeritud | Esineb 1 haiguses |
| SMN1survival of motor neuron 1, telomeric | Pole registreeritud | Esineb 1 haiguses |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Pole registreeritud | Esineb 1 haiguses |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Pole registreeritud | Esineb 2 haiguses |
| TTNtitin | Pole registreeritud | Esineb 2 haiguses |
| TUFMTu translation elongation factor, mitochondrial | Pole registreeritud | Esineb 1 haiguses |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Laiemad tunnused
Allikas
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: tunnus, selle nimetused, määratlus ja sellega seotud geenid. Lisateave leiab aadressilt hpo.jax.org.
- Andmeversioon 2026.10.19-9814e911.
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