AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Tunnus
Abnormal deposits of calcium in the brain
Kliiniline nimetus: Cerebral calcification
The presence of calcium deposition within the cerebrum.
Kokkuvõte
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/cerebral-calcification.json"
page <- fromJSON(url)
page$trait$nameKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Lugege välja geenid, mis on seotud Abnormal deposits of calcium in the brain-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test113 geeni on seotud tunnusega Abnormal deposits of calcium in the brain
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Abnormal deposits of calcium in the brain. 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 |
|---|---|---|
| ADARadenosine deaminase RNA specific | Alati | Esineb 2 haiguses |
| CA2carbonic anhydrase 2 | Alati | Esineb 2 haiguses |
| COLGALT1collagen beta(1-O)galactosyltransferase 1 | Alati | Esineb 1 haiguses |
| CSF1Rcolony stimulating factor 1 receptor | Alati | Esineb 1 haiguses |
| CTC1CST telomere replication complex component 1 | Alati | Esineb 2 haiguses |
| ESAMendothelial cell adhesion molecule | Alati | Esineb 1 haiguses |
| HLA-DQA1major histocompatibility complex, class II, DQ alpha 1 | Alati | Esineb 1 haiguses |
| HLA-DQB1major histocompatibility complex, class II, DQ beta 1 | Alati | Esineb 1 haiguses |
| IRF8interferon regulatory factor 8 | Alati | Esineb 1 haiguses |
| KARS1lysyl-tRNA synthetase 1 | Alati | Esineb 1 haiguses |
| KLklotho | Alati | Esineb 1 haiguses |
| NSMCE3NSE3 component of SMC5/6 complex | Alati | Esineb 1 haiguses |
| POT1protection of telomeres 1 | Alati | Esineb 1 haiguses |
| PPFIBP1PPFIB scaffold protein 1 | Alati | Esineb 1 haiguses |
| RRP12ribosomal RNA processing 12 homolog | Alati | Esineb 1 haiguses |
| SLC4A4solute carrier family 4 member 4 | Alati | Esineb 1 haiguses |
| STAT2signal transducer and activator of transcription 2 | Alati | Esineb 1 haiguses |
| WWOXWW domain containing oxidoreductase | Alati | Esineb 1 haiguses |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| ATP7AATPase copper transporting alpha | Väga sageli (80–99%) | Esineb 1 haiguses |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Väga sageli (80–99%) | Esineb 1 haiguses |
| CTNNB1catenin beta 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Väga sageli (80–99%) | Esineb 1 haiguses |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Väga sageli (80–99%) | Esineb 1 haiguses |
| ERCC5ERCC excision repair 5, endonuclease | Väga sageli (80–99%) | Esineb 1 haiguses |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Väga sageli (80–99%) | Esineb 1 haiguses |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Väga sageli (80–99%) | Esineb 1 haiguses |
| OCLNoccludin | Väga sageli (80–99%) | Esineb 2 haiguses |
| PTCH1patched 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PTCH2patched 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SLC29A3solute carrier family 29 member 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SNORD118small nucleolar RNA, C/D box 118 | Väga sageli (80–99%) | Esineb 2 haiguses |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Väga sageli (80–99%) | Esineb 1 haiguses |
| SUFUSUFU negative regulator of hedgehog signaling | Väga sageli (80–99%) | Esineb 1 haiguses |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TNFRSF11ATNF receptor superfamily member 11a | Väga sageli (80–99%) | Esineb 1 haiguses |
| ACP5acid phosphatase 5, tartrate resistant | Sageli (30–79%) | Esineb 2 haiguses |
| APPamyloid beta precursor protein | Sageli (30–79%) | Esineb 1 haiguses |
| COL11A1collagen type XI alpha 1 chain | Sageli (30–79%) | Esineb 1 haiguses |
| CPT2carnitine palmitoyltransferase 2 | Sageli (30–79%) | Esineb 1 haiguses |
Näita veel 73 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| CTSCcathepsin C | Sageli (30–79%) | Esineb 1 haiguses |
| DENND5ADENN domain containing 5A | Sageli (30–79%) | Esineb 1 haiguses |
| FAM20CFAM20C golgi associated secretory pathway kinase | Sageli (30–79%) | Esineb 1 haiguses |
| FGFR1fibroblast growth factor receptor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| GJA1gap junction protein alpha 1 | Sageli (30–79%) | Esineb 1 haiguses |
| IFIH1interferon induced with helicase C domain 1 | Sageli (30–79%) | Esineb 1 haiguses |
| KRASKRas proto-oncogene, GTPase | Sageli (30–79%) | Esineb 2 haiguses |
| LSM11LSM11, U7 small nuclear RNA associated | Sageli (30–79%) | Esineb 1 haiguses |
| NHP2NHP2 ribonucleoprotein | Sageli (30–79%) | Esineb 2 haiguses |
| PDGFBplatelet derived growth factor subunit B | Sageli (30–79%) | Esineb 1 haiguses |
| RNASEH2Aribonuclease H2 subunit A | Sageli (30–79%) | Esineb 2 haiguses |
| RNASEH2Bribonuclease H2 subunit B | Sageli (30–79%) | Esineb 1 haiguses |
| RNASEH2Cribonuclease H2 subunit C | Sageli (30–79%) | Esineb 2 haiguses |
| RNU7-1RNA, U7 small nuclear 1 | Sageli (30–79%) | Esineb 2 haiguses |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SC5Dsterol-C5-desaturase | Sageli (30–79%) | Esineb 1 haiguses |
| SLC19A1solute carrier family 19 member 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TREM2triggering receptor expressed on myeloid cells 2 | Sageli (30–79%) | Esineb 1 haiguses |
| TREX1three prime repair exonuclease 1 | Sageli (30–79%) | Esineb 2 haiguses |
| TYROBPtransmembrane immune signaling adaptor TYROBP | Sageli (30–79%) | Esineb 1 haiguses |
| ABCC6ATP binding cassette subfamily C member 6 | Mõnikord (5–29%) | Esineb 2 haiguses |
| ACDACD shelterin complex subunit and telomerase recruitment factor | Mõnikord (5–29%) | Esineb 2 haiguses |
| AMER1APC membrane recruitment protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| COL2A1collagen type II alpha 1 chain | Mõnikord (5–29%) | Esineb 1 haiguses |
| CTNScystinosin, lysosomal cystine transporter | Mõnikord (5–29%) | Esineb 1 haiguses |
| DKC1dyskerin pseudouridine synthase 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| ECM1extracellular matrix protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| GNAQG protein subunit alpha q | Mõnikord (5–29%) | Esineb 2 haiguses |
| GNASGNAS complex locus | Mõnikord (5–29%) | Esineb 2 haiguses |
| HRASHRas proto-oncogene, GTPase | Mõnikord (5–29%) | Esineb 1 haiguses |
| KATNB1katanin regulatory subunit B1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MYMKmyomaker, myoblast fusion factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| MYMXmyomixer, myoblast fusion factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| MYO5Amyosin VA | Mõnikord (5–29%) | Esineb 1 haiguses |
| NDE1nudE neurodevelopment protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NOP10NOP10 ribonucleoprotein | Mõnikord (5–29%) | Esineb 1 haiguses |
| NPM1nucleophosmin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NRASNRAS proto-oncogene, GTPase | Mõnikord (5–29%) | Esineb 1 haiguses |
| ODC1ornithine decarboxylase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PARNpoly(A)-specific ribonuclease | Mõnikord (5–29%) | Esineb 2 haiguses |
| PEX1peroxisomal biogenesis factor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PEX6peroxisomal biogenesis factor 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RELNreelin | Mõnikord (5–29%) | Esineb 1 haiguses |
| RNASET2ribonuclease T2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RTEL1regulator of telomere elongation helicase 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| SLC26A2solute carrier family 26 member 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC46A1solute carrier family 46 member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SNRPBsmall nuclear ribonucleoprotein polypeptides B and B1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TERCtelomerase RNA component | Mõnikord (5–29%) | Esineb 2 haiguses |
| TERTtelomerase reverse transcriptase | Mõnikord (5–29%) | Esineb 2 haiguses |
| TINF2TERF1 interacting nuclear factor 2 | Mõnikord (5–29%) | Esineb 4 haiguses |
| TYMSthymidylate synthetase | Mõnikord (5–29%) | Esineb 1 haiguses |
| USB1U6 snRNA biogenesis phosphodiesterase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| USP18ubiquitin specific peptidase 18 | Mõnikord (5–29%) | Esineb 1 haiguses |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Mõnikord (5–29%) | Esineb 2 haiguses |
| WRAP53WD repeat containing antisense to TP53 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZBTB20zinc finger and BTB domain containing 20 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZNFX1zinc finger NFX1-type containing 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CLCNKBchloride voltage-gated channel Kb | Harva (1–4%) | Esineb 1 haiguses |
| SLC12A3solute carrier family 12 member 3 | Harva (1–4%) | Esineb 1 haiguses |
| CCM2CCM2 scaffold protein | Pole registreeritud | Esineb 1 haiguses |
| DAG1dystroglycan 1 | Pole registreeritud | Esineb 1 haiguses |
| IFNGinterferon gamma | Pole registreeritud | Esineb 1 haiguses |
| KRIT1KRIT1 ankyrin repeat containing | Pole registreeritud | Esineb 1 haiguses |
| MGPmatrix Gla protein | Pole registreeritud | Esineb 1 haiguses |
| PAHphenylalanine hydroxylase | Pole registreeritud | Esineb 1 haiguses |
| PDCD10programmed cell death 10 | Pole registreeritud | Esineb 1 haiguses |
| PTHparathyroid hormone | Pole registreeritud | Esineb 1 haiguses |
| QDPRquinoid dihydropteridine reductase | Pole registreeritud | Esineb 1 haiguses |
| TSC1TSC complex subunit 1 | Pole registreeritud | Esineb 1 haiguses |
| TSC2TSC complex subunit 2 | 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 2026.10.17-8666dff2.
AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast