Tunnus
Apnea
Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event.
Kokkuvõte
- Teised nimetused
- Absence of spontaneous respiration, Apneic episodes, Apnoea
- Kehasüsteem
- Abnormality of the respiratory system
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Apnea, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test203 geeni on seotud tunnusega Apnea
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Apnea. 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 |
|---|---|---|
| ADAM22ADAM metallopeptidase domain 22 | Alati | Esineb 1 haiguses |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Alati | Esineb 1 haiguses |
| ATP5F1AATP synthase F1 subunit alpha | Alati | Esineb 1 haiguses |
| CAPNS1calpain small subunit 1 | Alati | Esineb 1 haiguses |
| CTSDcathepsin D | Alati | Esineb 1 haiguses |
| DAGLAdiacylglycerol lipase alpha | Alati | Esineb 1 haiguses |
| DSTdystonin | Alati | Esineb 3 haiguses |
| ECHS1enoyl-CoA hydratase, short chain 1 | Alati | Esineb 1 haiguses |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Alati | Esineb 1 haiguses |
| FDXRferredoxin reductase | Alati | Esineb 1 haiguses |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Alati | Esineb 1 haiguses |
| GCSHglycine cleavage system protein H | Alati | Esineb 1 haiguses |
| GLULglutamate-ammonia ligase | Alati | Esineb 1 haiguses |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Alati | Esineb 1 haiguses |
| JKAMPJNK1/MAPK8 associated membrane protein | Alati | Esineb 1 haiguses |
| KIF5Akinesin family member 5A | Alati | Esineb 1 haiguses |
| LBX1ladybird homeobox 1 | Alati | Esineb 1 haiguses |
| MECP2methyl-CpG binding protein 2 | Alati | Esineb 4 haiguses |
| MSL2MSL complex subunit 2 | Alati | Esineb 1 haiguses |
| MYO1Hmyosin IH | Alati | Esineb 1 haiguses |
| NDUFA2NADH:ubiquinone oxidoreductase subunit A2 | Alati | Esineb 1 haiguses |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Alati | Esineb 1 haiguses |
| NSD1nuclear receptor binding SET domain protein 1 | Alati | Esineb 1 haiguses |
| NUP214nucleoporin 214 | Alati | Esineb 1 haiguses |
| OPA1OPA1 mitochondrial dynamin like GTPase | Alati | Esineb 1 haiguses |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Alati | Esineb 1 haiguses |
| PEX1peroxisomal biogenesis factor 1 | Alati | Esineb 1 haiguses |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Alati | Esineb 1 haiguses |
| SATB2SATB homeobox 2 | Alati | Esineb 1 haiguses |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Alati | Esineb 3 haiguses |
| SCO1synthesis of cytochrome C oxidase 1 | Alati | Esineb 1 haiguses |
| SLC25A12solute carrier family 25 member 12 | Alati | Esineb 1 haiguses |
| SPINK5serine peptidase inhibitor Kazal type 5 | Alati | Esineb 1 haiguses |
| SPOUT1SPOUT domain containing methyltransferase 1 | Alati | Esineb 1 haiguses |
| STAT2signal transducer and activator of transcription 2 | Alati | Esineb 1 haiguses |
| AHI1Abelson helper integration site 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| ARL13BARF like GTPase 13B | Väga sageli (80–99%) | Esineb 1 haiguses |
| ARL3ARF like GTPase 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ARMC9armadillo repeat containing 9 | Väga sageli (80–99%) | Esineb 2 haiguses |
| B9D1B9 domain containing 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
Näita veel 163 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| B9D2B9 domain containing 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| BRAT1BRCA1 associated ATM activator 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| CBY1chibby 1, beta catenin antagonist | Väga sageli (80–99%) | Esineb 1 haiguses |
| CC2D2Acoiled-coil and C2 domain containing 2A | Väga sageli (80–99%) | Esineb 3 haiguses |
| CEP104centrosomal protein 104 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CEP120centrosomal protein 120 | Väga sageli (80–99%) | Esineb 2 haiguses |
| CEP290centrosomal protein 290 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CEP41centrosomal protein 41 | Väga sageli (80–99%) | Esineb 2 haiguses |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| CSPP1centrosome and spindle pole associated protein 1 | Väga sageli (80–99%) | Esineb 3 haiguses |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Väga sageli (80–99%) | Esineb 1 haiguses |
| IFT74intraflagellar transport 74 | Väga sageli (80–99%) | Esineb 1 haiguses |
| INPP5Einositol polyphosphate-5-phosphatase E | Väga sageli (80–99%) | Esineb 3 haiguses |
| KATNIPkatanin interacting protein | Väga sageli (80–99%) | Esineb 1 haiguses |
| KIAA0586KIAA0586 | Väga sageli (80–99%) | Esineb 3 haiguses |
| KIAA0753KIAA0753 | Väga sageli (80–99%) | Esineb 2 haiguses |
| MKS1MKS transition zone complex subunit 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| NPHP1nephrocystin 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| OFD1OFD1 centriole and centriolar satellite protein | Väga sageli (80–99%) | Esineb 2 haiguses |
| PDE6Dphosphodiesterase 6D | Väga sageli (80–99%) | Esineb 2 haiguses |
| PIBF1progesterone immunomodulatory binding factor 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| RPGRIP1LRPGRIP1 like | Väga sageli (80–99%) | Esineb 2 haiguses |
| SLC5A7solute carrier family 5 member 7 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SUFUSUFU negative regulator of hedgehog signaling | Väga sageli (80–99%) | Esineb 1 haiguses |
| TCTN1tectonic family member 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TCTN2tectonic family member 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TCTN3tectonic family member 3 | Väga sageli (80–99%) | Esineb 2 haiguses |
| TMEM138transmembrane protein 138 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TMEM216transmembrane protein 216 | Väga sageli (80–99%) | Esineb 2 haiguses |
| TMEM218transmembrane protein 218 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TMEM231transmembrane protein 231 | Väga sageli (80–99%) | Esineb 2 haiguses |
| TMEM237transmembrane protein 237 | Väga sageli (80–99%) | Esineb 3 haiguses |
| TMEM67transmembrane protein 67 | Väga sageli (80–99%) | Esineb 2 haiguses |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ZNF423zinc finger protein 423 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ASXL1ASXL transcriptional regulator 1 | Sageli (30–79%) | Esineb 1 haiguses |
| CAMK2Bcalcium/calmodulin dependent protein kinase II beta | Sageli (30–79%) | Esineb 1 haiguses |
| COQ4coenzyme Q4 | Sageli (30–79%) | Esineb 1 haiguses |
| DDCdopa decarboxylase | Sageli (30–79%) | Esineb 1 haiguses |
| DHRSXdehydrogenase/reductase X-linked | Sageli (30–79%) | Esineb 1 haiguses |
| EPG5ectopic P-granules 5 autophagy tethering factor | Sageli (30–79%) | Esineb 1 haiguses |
| GBA1glucosylceramidase beta 1 | Sageli (30–79%) | Esineb 2 haiguses |
| HDAC4histone deacetylase 4 | Sageli (30–79%) | Esineb 1 haiguses |
| HDAC9histone deacetylase 9 | Sageli (30–79%) | Esineb 1 haiguses |
| HSPD1heat shock protein family D (Hsp60) member 1 | Sageli (30–79%) | Esineb 1 haiguses |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Sageli (30–79%) | Esineb 4 haiguses |
| KCNQ3potassium voltage-gated channel subfamily Q member 3 | Sageli (30–79%) | Esineb 2 haiguses |
| LIFRLIF receptor subunit alpha | Sageli (30–79%) | Esineb 2 haiguses |
| MRPL39mitochondrial ribosomal protein L39 | Sageli (30–79%) | Esineb 1 haiguses |
| MYL1myosin light chain 1 | Sageli (30–79%) | Esineb 1 haiguses |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Sageli (30–79%) | Esineb 1 haiguses |
| NDUFA11NADH:ubiquinone oxidoreductase subunit A11 | Sageli (30–79%) | Esineb 1 haiguses |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Sageli (30–79%) | Esineb 1 haiguses |
| PLAAphospholipase A2 activating protein | Sageli (30–79%) | Esineb 2 haiguses |
| PRRT2proline rich transmembrane protein 2 | Sageli (30–79%) | Esineb 1 haiguses |
| PSAT1phosphoserine aminotransferase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| RARS2arginyl-tRNA synthetase 2, mitochondrial | Sageli (30–79%) | Esineb 1 haiguses |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Sageli (30–79%) | Esineb 4 haiguses |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Sageli (30–79%) | Esineb 1 haiguses |
| SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | Sageli (30–79%) | Esineb 1 haiguses |
| SFTPBsurfactant protein B | Sageli (30–79%) | Esineb 1 haiguses |
| SLC18A3solute carrier family 18 member A3 | Sageli (30–79%) | Esineb 1 haiguses |
| SOX9SRY-box transcription factor 9 | Sageli (30–79%) | Esineb 1 haiguses |
| TSEN15tRNA splicing endonuclease subunit 15 | Sageli (30–79%) | Esineb 1 haiguses |
| TSEN2tRNA splicing endonuclease subunit 2 | Sageli (30–79%) | Esineb 1 haiguses |
| TSEN34tRNA splicing endonuclease subunit 34 | Sageli (30–79%) | Esineb 1 haiguses |
| TSEN54tRNA splicing endonuclease subunit 54 | Sageli (30–79%) | Esineb 1 haiguses |
| ACY1aminoacylase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ADGRG1adhesion G protein-coupled receptor G1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BTDbiotinidase | Mõnikord (5–29%) | Esineb 2 haiguses |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Mõnikord (5–29%) | Esineb 1 haiguses |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Mõnikord (5–29%) | Esineb 1 haiguses |
| BUB3BUB3 mitotic checkpoint protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Mõnikord (5–29%) | Esineb 1 haiguses |
| CDKL5cyclin dependent kinase like 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CEP57centrosomal protein 57 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CLCN7Cl-/H+ antiporter 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CRLS1cardiolipin synthase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CRYABcrystallin alpha B | Mõnikord (5–29%) | Esineb 1 haiguses |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FAM149B1family with sequence similarity 149 member B1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FBN1fibrillin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FBXO22F-box protein 22 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GNB2G protein subunit beta 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GRIK2glutamate ionotropic receptor kainate type subunit 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HMGCL3-hydroxy-3-methylglutaryl-CoA lyase | Mõnikord (5–29%) | Esineb 1 haiguses |
| HSPG2heparan sulfate proteoglycan 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KAT6Blysine acetyltransferase 6B | Mõnikord (5–29%) | Esineb 1 haiguses |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KIF7kinesin family member 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MINPP1multiple inositol-polyphosphate phosphatase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MOGSmannosyl-oligosaccharide glucosidase | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Mõnikord (5–29%) | Esineb 1 haiguses |
| MTHFRmethylenetetrahydrofolate reductase | Mõnikord (5–29%) | Esineb 1 haiguses |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NEK1NIMA related kinase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PI4KAphosphatidylinositol 4-kinase alpha | Mõnikord (5–29%) | Esineb 1 haiguses |
| PLPBPpyridoxal phosphate binding protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| PRKAG2protein kinase AMP-activated non-catalytic subunit gamma 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PURApurine rich element binding protein A | Mõnikord (5–29%) | Esineb 1 haiguses |
| RBM10RNA binding motif protein 10 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RHOBTB2Rho related BTB domain containing 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RNF125ring finger protein 125 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SKISKI proto-oncogene | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC1A3solute carrier family 1 member 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC2A1solute carrier family 2 member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC6A5solute carrier family 6 member 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SNX10sorting nexin 10 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SRPX2sushi repeat containing protein X-linked 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Mõnikord (5–29%) | Esineb 1 haiguses |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TNFSF11TNF superfamily member 11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TOE1target of EGR1, exonuclease | Mõnikord (5–29%) | Esineb 1 haiguses |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRIP13thyroid hormone receptor interactor 13 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ABCA3ATP binding cassette subfamily A member 3 | Pole registreeritud | Esineb 1 haiguses |
| ALPLalkaline phosphatase, biomineralization associated | Pole registreeritud | Esineb 1 haiguses |
| AMER1APC membrane recruitment protein 1 | Pole registreeritud | Esineb 1 haiguses |
| BCHEbutyrylcholinesterase | Pole registreeritud | Esineb 1 haiguses |
| CPT2carnitine palmitoyltransferase 2 | Pole registreeritud | Esineb 1 haiguses |
| D2HGDHD-2-hydroxyglutarate dehydrogenase | Pole registreeritud | Esineb 1 haiguses |
| FBP1fructose-bisphosphatase 1 | Pole registreeritud | Esineb 1 haiguses |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Pole registreeritud | Esineb 1 haiguses |
| GLRA1glycine receptor alpha 1 | Pole registreeritud | Esineb 1 haiguses |
| GNAI3G protein subunit alpha i3 | Pole registreeritud | Esineb 1 haiguses |
| GPHNgephyrin | Pole registreeritud | Esineb 1 haiguses |
| HTRA2HtrA serine peptidase 2 | Pole registreeritud | Esineb 1 haiguses |
| LIASlipoic acid synthetase | Pole registreeritud | Esineb 1 haiguses |
| MCCC1methylcrotonyl-CoA carboxylase subunit 1 | Pole registreeritud | Esineb 1 haiguses |
| MYO9Amyosin IXA | Pole registreeritud | Esineb 1 haiguses |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Pole registreeritud | Esineb 1 haiguses |
| NDUFS8NADH:ubiquinone oxidoreductase core subunit S8 | Pole registreeritud | Esineb 1 haiguses |
| NDUFV1NADH:ubiquinone oxidoreductase core subunit V1 | Pole registreeritud | Esineb 1 haiguses |
| NEBnebulin | Pole registreeritud | Esineb 1 haiguses |
| NFIXnuclear factor I X | Pole registreeritud | Esineb 1 haiguses |
| PCCApropionyl-CoA carboxylase subunit alpha | Pole registreeritud | Esineb 1 haiguses |
| PCCBpropionyl-CoA carboxylase subunit beta | Pole registreeritud | Esineb 1 haiguses |
| PCK1phosphoenolpyruvate carboxykinase 1 | Pole registreeritud | Esineb 1 haiguses |
| PEX13peroxisomal biogenesis factor 13 | Pole registreeritud | Esineb 1 haiguses |
| PEX5peroxisomal biogenesis factor 5 | Pole registreeritud | Esineb 1 haiguses |
| PHOX2Bpaired like homeobox 2B | Pole registreeritud | Esineb 1 haiguses |
| PLCB4phospholipase C beta 4 | Pole registreeritud | Esineb 1 haiguses |
| PRNPprion protein (Kanno blood group) | Pole registreeritud | Esineb 1 haiguses |
| PTF1Apancreas associated transcription factor 1a | Pole registreeritud | Esineb 1 haiguses |
| SLC6A9solute carrier family 6 member 9 | Pole registreeritud | Esineb 1 haiguses |
| TMEM107transmembrane protein 107 | Pole registreeritud | Esineb 1 haiguses |
| TSPYL1TSPY like 1 | Pole registreeritud | Esineb 1 haiguses |
| ZC4H2zinc finger C4H2-type containing | 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.
Kitsamad tunnused
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 2026.10.16-c6eea6bf.
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast