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Tunnus
Absent spleen
Kliiniline nimetus: Asplenia
Absence (aplasia) of the spleen.
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This page as data
Add .json to the page's address, or ask for application/json, to read it as JSON.
library(jsonlite)
url <- "https://dantelabs.com/traits/asplenia.json"
page <- fromJSON(url)
page$trait$nameAbsent spleenHP:0001746
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Lugege välja geenid, mis on seotud Absent spleen-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test98 geeni on seotud tunnusega Absent spleen
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Absent spleen. 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 |
|---|---|---|
| DAND5DAN domain BMP antagonist family member 5 | Alati | Esineb 1 haiguses |
| FRYLFRY like transcription coactivator | Alati | Esineb 1 haiguses |
| GDF1growth differentiation factor 1 | Alati | Esineb 1 haiguses |
| HMOX1heme oxygenase 1 | Alati | Esineb 2 haiguses |
| ORAI1ORAI calcium release-activated calcium modulator 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| STIM1stromal interaction molecule 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| AIREautoimmune regulator | Sageli (30–79%) | Esineb 2 haiguses |
| CCDC32coiled-coil domain containing 32 | Sageli (30–79%) | Esineb 1 haiguses |
| CFC1cryptic, EGF-CFC family member 1 | Sageli (30–79%) | Esineb 1 haiguses |
| CIROZciliated left-right organizer protein containing ZP-N domains | Sageli (30–79%) | Esineb 1 haiguses |
| NEK8NIMA related kinase 8 | Sageli (30–79%) | Esineb 2 haiguses |
| TWIST1twist family bHLH transcription factor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| WNT3Wnt family member 3 | Sageli (30–79%) | Esineb 1 haiguses |
| ZIC3Zic family zinc finger 3 | Sageli (30–79%) | Esineb 1 haiguses |
| B9D1B9 domain containing 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| B9D2B9 domain containing 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BCL11ABCL11 transcription factor A | Mõnikord (5–29%) | Esineb 1 haiguses |
| CC2D2Acoiled-coil and C2 domain containing 2A | Mõnikord (5–29%) | Esineb 1 haiguses |
| CEP290centrosomal protein 290 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CSPP1centrosome and spindle pole associated protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FAM111AFAM111 trypsin like peptidase A | Mõnikord (5–29%) | Esineb 1 haiguses |
| FOXF1forkhead box F1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| HBBhemoglobin subunit beta | Mõnikord (5–29%) | Esineb 1 haiguses |
| HBG1hemoglobin subunit gamma 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HBG2hemoglobin subunit gamma 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KLF1KLF transcription factor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MKS1MKS transition zone complex subunit 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| MNS1meiosis specific nuclear structural 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NODALnodal growth differentiation factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| NPHP3nephrocystin 3 | Mõnikord (5–29%) | Esineb 2 haiguses |
| RPGRIP1RPGR interacting protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPGRIP1LRPGRIP1 like | Mõnikord (5–29%) | Esineb 1 haiguses |
| SMAD2SMAD family member 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TCTN1tectonic family member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TCTN2tectonic family member 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TCTN3tectonic family member 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TMEM107transmembrane protein 107 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TMEM216transmembrane protein 216 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TMEM231transmembrane protein 231 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TMEM237transmembrane protein 237 | Mõnikord (5–29%) | Esineb 1 haiguses |
Näita veel 58 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| TMEM67transmembrane protein 67 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TXNDC15thioredoxin domain containing 15 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZEB2zinc finger E-box binding homeobox 2 | Mõnikord (5–29%) | Esineb 2 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 2 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 |
| 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 |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Pole registreeritud | Esineb 1 haiguses |
| RPSAribosomal protein SA | 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 2026.10.16-c6eea6bf.
Kellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiAlustaalates 449 $
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast