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Tunnus
Intestinal malrotation
An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis.
Kokkuvõte
- Teised nimetused
- Malrotation
- Kehasüsteem
- Abnormality of the digestive system
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Selle lehe andmed
Lehe aadressile saab lisada .json või päringusse application/json, et lugeda seda JSON-vormingus.
library(jsonlite)
url <- "https://dantelabs.com/traits/intestinal-malrotation.json"
page <- fromJSON(url)
page$trait$nameIntestinal malrotationHP:0002566
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Lugege välja geenid, mis on seotud Intestinal malrotation-ga, ja kogu ülejäänud genoom ühe testiga.
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Telli oma Genome Test152 geeni on seotud tunnusega Intestinal malrotation
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Intestinal malrotation. 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 |
|---|---|---|
| ACTG2actin gamma 2, smooth muscle | Alati | Esineb 2 haiguses |
| CLMPCXADR like cell adhesion molecule | Alati | Esineb 2 haiguses |
| DAND5DAN domain BMP antagonist family member 5 | Alati | Esineb 1 haiguses |
| MED12mediator complex subunit 12 | Alati | Esineb 3 haiguses |
| SLC12A2solute carrier family 12 member 2 | Alati | Esineb 1 haiguses |
| ZFPM2zinc finger protein, FOG family member 2 | Alati | Esineb 2 haiguses |
| ACTA2actin alpha 2, smooth muscle | Sageli (30–79%) | Esineb 1 haiguses |
| CFAP45cilia and flagella associated protein 45 | Sageli (30–79%) | Esineb 1 haiguses |
| CFC1cryptic, EGF-CFC family member 1 | Sageli (30–79%) | Esineb 1 haiguses |
| EXT2exostosin glycosyltransferase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Sageli (30–79%) | Esineb 1 haiguses |
| FLNAfilamin A | Sageli (30–79%) | Esineb 2 haiguses |
| FOXF1forkhead box F1 | Sageli (30–79%) | Esineb 2 haiguses |
| GATA6GATA binding protein 6 | Sageli (30–79%) | Esineb 3 haiguses |
| IFT43intraflagellar transport 43 | Sageli (30–79%) | Esineb 1 haiguses |
| IRF1interferon regulatory factor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| LMOD1leiomodin 1 | Sageli (30–79%) | Esineb 1 haiguses |
| LONP1lon peptidase 1, mitochondrial | Sageli (30–79%) | Esineb 1 haiguses |
| MYH11myosin heavy chain 11 | Sageli (30–79%) | Esineb 2 haiguses |
| MYLKmyosin light chain kinase | Sageli (30–79%) | Esineb 2 haiguses |
| MYRFmyelin regulatory factor | Sageli (30–79%) | Esineb 1 haiguses |
| NPHP3nephrocystin 3 | Sageli (30–79%) | Esineb 2 haiguses |
| RAD21RAD21 cohesin complex component | Sageli (30–79%) | Esineb 2 haiguses |
| RFX6regulatory factor X6 | Sageli (30–79%) | Esineb 1 haiguses |
| ROBO1roundabout guidance receptor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SMOsmoothened, frizzled class receptor | Sageli (30–79%) | Esineb 2 haiguses |
| TBC1D32TBC1 domain family member 32 | Sageli (30–79%) | Esineb 1 haiguses |
| ZPR1ZPR1 zinc finger | Sageli (30–79%) | Esineb 1 haiguses |
| ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase | Mõnikord (5–29%) | Esineb 1 haiguses |
| ARVCFARVCF delta catenin family member | Mõnikord (5–29%) | Esineb 1 haiguses |
| ASXL3ASXL transcriptional regulator 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BCORBCL6 corepressor | Mõnikord (5–29%) | Esineb 1 haiguses |
| BRD4bromodomain containing 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CAMK2Acalcium/calmodulin dependent protein kinase II alpha | Mõnikord (5–29%) | Esineb 1 haiguses |
| CCDC22CCC complex scaffolding subunit CCDC22 | Mõnikord (5–29%) | Esineb 2 haiguses |
| CHRM3cholinergic receptor muscarinic 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CIROZciliated left-right organizer protein containing ZP-N domains | Mõnikord (5–29%) | Esineb 1 haiguses |
| COMTcatechol-O-methyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| DHCR2424-dehydrocholesterol reductase | Mõnikord (5–29%) | Esineb 1 haiguses |
| DPYSL5dihydropyrimidinase like 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
Näita veel 112 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FBN2fibrillin 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FBXO22F-box protein 22 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FGFR2fibroblast growth factor receptor 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| FREM2FRAS1 related extracellular matrix 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GP1BBglycoprotein Ib platelet subunit beta | Mõnikord (5–29%) | Esineb 1 haiguses |
| HDAC8histone deacetylase 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HIRAhistone cell cycle regulator | Mõnikord (5–29%) | Esineb 1 haiguses |
| HMGA2high mobility group AT-hook 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HNRNPUheterogeneous nuclear ribonucleoprotein U | Mõnikord (5–29%) | Esineb 1 haiguses |
| IPO8importin 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ISL1ISL LIM homeobox 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| JMJD1Cjumonji domain containing 1C | Mõnikord (5–29%) | Esineb 1 haiguses |
| KAT6Alysine acetyltransferase 6A | Mõnikord (5–29%) | Esineb 2 haiguses |
| LEMD3LEM domain containing 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LRP2LDL receptor related protein 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| MAU2MAU2 sister chromatid cohesion factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| NEK1NIMA related kinase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NIPBLNIPBL cohesin loading factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| NODALnodal growth differentiation factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| NOTCH2notch receptor 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| PI4KAphosphatidylinositol 4-kinase alpha | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Mõnikord (5–29%) | Esineb 1 haiguses |
| PORCNporcupine O-acyltransferase | Mõnikord (5–29%) | Esineb 2 haiguses |
| RARBretinoic acid receptor beta | Mõnikord (5–29%) | Esineb 1 haiguses |
| RREB1ras responsive element binding protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SEC24CSEC24 homolog C, COPII component | Mõnikord (5–29%) | Esineb 1 haiguses |
| SMAD2SMAD family member 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SMC1Astructural maintenance of chromosomes 1A | Mõnikord (5–29%) | Esineb 1 haiguses |
| SMC3structural maintenance of chromosomes 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SPINT2serine peptidase inhibitor, Kunitz type 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TBX1T-box transcription factor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TMEM216transmembrane protein 216 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TMEM94transmembrane protein 94 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TP63tumor protein p63 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TTC7Atetratricopeptide repeat domain 7A | Mõnikord (5–29%) | Esineb 2 haiguses |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| VPS35LVPS35 endosomal protein sorting factor like | Mõnikord (5–29%) | Esineb 1 haiguses |
| WASHC5WASH complex subunit 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ALG12ALG12 alpha-1,6-mannosyltransferase | 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 |
| CREBBPCREB binding lysine acetyltransferase | Harva (1–4%) | Esineb 2 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 |
| EP300EP300 lysine acetyltransferase | Harva (1–4%) | Esineb 2 haiguses |
| FOXJ1forkhead box J1 | Harva (1–4%) | Esineb 1 haiguses |
| GAS2L2growth arrest specific 2 like 2 | Harva (1–4%) | Esineb 1 haiguses |
| HYDINHYDIN axonemal central pair apparatus protein | 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 |
| NEK10NIMA related kinase 10 | 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 |
| 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 |
| TTC12tetratricopeptide repeat domain 12 | Harva (1–4%) | Esineb 1 haiguses |
| ZMYND10zinc finger MYND-type containing 10 | Harva (1–4%) | Esineb 1 haiguses |
| AMER1APC membrane recruitment protein 1 | Pole registreeritud | Esineb 1 haiguses |
| ARID1BAT-rich interaction domain 1B | Pole registreeritud | Esineb 1 haiguses |
| ASXL1ASXL transcriptional regulator 1 | Pole registreeritud | Esineb 1 haiguses |
| CENPFcentromere protein F | Pole registreeritud | Esineb 1 haiguses |
| CHST14carbohydrate sulfotransferase 14 | Pole registreeritud | Esineb 1 haiguses |
| DHCR77-dehydrocholesterol reductase | Pole registreeritud | Esineb 1 haiguses |
| ERBB3erb-b2 receptor tyrosine kinase 3 | Pole registreeritud | Esineb 1 haiguses |
| EYA1EYA transcriptional coactivator and phosphatase 1 | Pole registreeritud | Esineb 1 haiguses |
| GPC3glypican 3 | Pole registreeritud | Esineb 1 haiguses |
| KDM6Alysine demethylase 6A | Pole registreeritud | Esineb 1 haiguses |
| KMT2Dlysine methyltransferase 2D | Pole registreeritud | Esineb 1 haiguses |
| MKS1MKS transition zone complex subunit 1 | Pole registreeritud | Esineb 1 haiguses |
| MMP21matrix metallopeptidase 21 | Pole registreeritud | Esineb 1 haiguses |
| SALL4spalt like transcription factor 4 | Pole registreeritud | Esineb 1 haiguses |
| SIX1SIX homeobox 1 | Pole registreeritud | Esineb 1 haiguses |
| UBE3Bubiquitin protein ligase E3B | 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.
AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast