AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Požymis
Abnormal deposits of calcium in the brain
Klinikinis pavadinimas: Cerebral calcification
The presence of calcium deposition within the cerebrum.
Santrauka
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Ši puslapis kaip duomenys
Norėdami perskaityti jį kaip JSON, pridėkite .json prie puslapio adreso arba nurodykite application/json.
library(jsonlite)
url <- "https://dantelabs.com/traits/cerebral-calcification.json"
page <- fromJSON(url)
page$trait$nameKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Vienu tyrimu sužinokite genus, susijusius su Abnormal deposits of calcium in the brain, ir kitą jūsų genomo dalį.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites
Įsigyti savo Genome Test113 genų susiję su Abnormal deposits of calcium in the brain
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Abnormal deposits of calcium in the brain. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| ADARadenosine deaminase RNA specific | Visada | 2 ligose |
| CA2carbonic anhydrase 2 | Visada | 2 ligose |
| COLGALT1collagen beta(1-O)galactosyltransferase 1 | Visada | 1 ligoje |
| CSF1Rcolony stimulating factor 1 receptor | Visada | 1 ligoje |
| CTC1CST telomere replication complex component 1 | Visada | 2 ligose |
| ESAMendothelial cell adhesion molecule | Visada | 1 ligoje |
| HLA-DQA1major histocompatibility complex, class II, DQ alpha 1 | Visada | 1 ligoje |
| HLA-DQB1major histocompatibility complex, class II, DQ beta 1 | Visada | 1 ligoje |
| IRF8interferon regulatory factor 8 | Visada | 1 ligoje |
| KARS1lysyl-tRNA synthetase 1 | Visada | 1 ligoje |
| KLklotho | Visada | 1 ligoje |
| NSMCE3NSE3 component of SMC5/6 complex | Visada | 1 ligoje |
| POT1protection of telomeres 1 | Visada | 1 ligoje |
| PPFIBP1PPFIB scaffold protein 1 | Visada | 1 ligoje |
| RRP12ribosomal RNA processing 12 homolog | Visada | 1 ligoje |
| SLC4A4solute carrier family 4 member 4 | Visada | 1 ligoje |
| STAT2signal transducer and activator of transcription 2 | Visada | 1 ligoje |
| WWOXWW domain containing oxidoreductase | Visada | 1 ligoje |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Labai dažnai (80–99%) | 2 ligose |
| ATP7AATPase copper transporting alpha | Labai dažnai (80–99%) | 1 ligoje |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Labai dažnai (80–99%) | 1 ligoje |
| CTNNB1catenin beta 1 | Labai dažnai (80–99%) | 2 ligose |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Labai dažnai (80–99%) | 1 ligoje |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Labai dažnai (80–99%) | 1 ligoje |
| ERCC5ERCC excision repair 5, endonuclease | Labai dažnai (80–99%) | 1 ligoje |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Labai dažnai (80–99%) | 1 ligoje |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Labai dažnai (80–99%) | 1 ligoje |
| OCLNoccludin | Labai dažnai (80–99%) | 2 ligose |
| PTCH1patched 1 | Labai dažnai (80–99%) | 1 ligoje |
| PTCH2patched 2 | Labai dažnai (80–99%) | 1 ligoje |
| SLC29A3solute carrier family 29 member 3 | Labai dažnai (80–99%) | 1 ligoje |
| SNORD118small nucleolar RNA, C/D box 118 | Labai dažnai (80–99%) | 2 ligose |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Labai dažnai (80–99%) | 1 ligoje |
| SUFUSUFU negative regulator of hedgehog signaling | Labai dažnai (80–99%) | 1 ligoje |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Labai dažnai (80–99%) | 1 ligoje |
| TNFRSF11ATNF receptor superfamily member 11a | Labai dažnai (80–99%) | 1 ligoje |
| ACP5acid phosphatase 5, tartrate resistant | Dažnai (30–79%) | 2 ligose |
| APPamyloid beta precursor protein | Dažnai (30–79%) | 1 ligoje |
| COL11A1collagen type XI alpha 1 chain | Dažnai (30–79%) | 1 ligoje |
| CPT2carnitine palmitoyltransferase 2 | Dažnai (30–79%) | 1 ligoje |
Rodyti dar 73 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| CTSCcathepsin C | Dažnai (30–79%) | 1 ligoje |
| DENND5ADENN domain containing 5A | Dažnai (30–79%) | 1 ligoje |
| FAM20CFAM20C golgi associated secretory pathway kinase | Dažnai (30–79%) | 1 ligoje |
| FGFR1fibroblast growth factor receptor 1 | Dažnai (30–79%) | 1 ligoje |
| GJA1gap junction protein alpha 1 | Dažnai (30–79%) | 1 ligoje |
| IFIH1interferon induced with helicase C domain 1 | Dažnai (30–79%) | 1 ligoje |
| KRASKRas proto-oncogene, GTPase | Dažnai (30–79%) | 2 ligose |
| LSM11LSM11, U7 small nuclear RNA associated | Dažnai (30–79%) | 1 ligoje |
| NHP2NHP2 ribonucleoprotein | Dažnai (30–79%) | 2 ligose |
| PDGFBplatelet derived growth factor subunit B | Dažnai (30–79%) | 1 ligoje |
| RNASEH2Aribonuclease H2 subunit A | Dažnai (30–79%) | 2 ligose |
| RNASEH2Bribonuclease H2 subunit B | Dažnai (30–79%) | 1 ligoje |
| RNASEH2Cribonuclease H2 subunit C | Dažnai (30–79%) | 2 ligose |
| RNU7-1RNA, U7 small nuclear 1 | Dažnai (30–79%) | 2 ligose |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Dažnai (30–79%) | 1 ligoje |
| SC5Dsterol-C5-desaturase | Dažnai (30–79%) | 1 ligoje |
| SLC19A1solute carrier family 19 member 1 | Dažnai (30–79%) | 1 ligoje |
| TREM2triggering receptor expressed on myeloid cells 2 | Dažnai (30–79%) | 1 ligoje |
| TREX1three prime repair exonuclease 1 | Dažnai (30–79%) | 2 ligose |
| TYROBPtransmembrane immune signaling adaptor TYROBP | Dažnai (30–79%) | 1 ligoje |
| ABCC6ATP binding cassette subfamily C member 6 | Kartais (5–29%) | 2 ligose |
| ACDACD shelterin complex subunit and telomerase recruitment factor | Kartais (5–29%) | 2 ligose |
| AMER1APC membrane recruitment protein 1 | Kartais (5–29%) | 1 ligoje |
| COL2A1collagen type II alpha 1 chain | Kartais (5–29%) | 1 ligoje |
| CTNScystinosin, lysosomal cystine transporter | Kartais (5–29%) | 1 ligoje |
| DKC1dyskerin pseudouridine synthase 1 | Kartais (5–29%) | 2 ligose |
| ECM1extracellular matrix protein 1 | Kartais (5–29%) | 1 ligoje |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Kartais (5–29%) | 2 ligose |
| GNAQG protein subunit alpha q | Kartais (5–29%) | 2 ligose |
| GNASGNAS complex locus | Kartais (5–29%) | 2 ligose |
| HRASHRas proto-oncogene, GTPase | Kartais (5–29%) | 1 ligoje |
| KATNB1katanin regulatory subunit B1 | Kartais (5–29%) | 1 ligoje |
| MYMKmyomaker, myoblast fusion factor | Kartais (5–29%) | 1 ligoje |
| MYMXmyomixer, myoblast fusion factor | Kartais (5–29%) | 1 ligoje |
| MYO5Amyosin VA | Kartais (5–29%) | 1 ligoje |
| NDE1nudE neurodevelopment protein 1 | Kartais (5–29%) | 1 ligoje |
| NOP10NOP10 ribonucleoprotein | Kartais (5–29%) | 1 ligoje |
| NPM1nucleophosmin 1 | Kartais (5–29%) | 1 ligoje |
| NRASNRAS proto-oncogene, GTPase | Kartais (5–29%) | 1 ligoje |
| ODC1ornithine decarboxylase 1 | Kartais (5–29%) | 1 ligoje |
| PARNpoly(A)-specific ribonuclease | Kartais (5–29%) | 2 ligose |
| PEX1peroxisomal biogenesis factor 1 | Kartais (5–29%) | 1 ligoje |
| PEX6peroxisomal biogenesis factor 6 | Kartais (5–29%) | 1 ligoje |
| RELNreelin | Kartais (5–29%) | 1 ligoje |
| RNASET2ribonuclease T2 | Kartais (5–29%) | 1 ligoje |
| RTEL1regulator of telomere elongation helicase 1 | Kartais (5–29%) | 2 ligose |
| SLC26A2solute carrier family 26 member 2 | Kartais (5–29%) | 1 ligoje |
| SLC46A1solute carrier family 46 member 1 | Kartais (5–29%) | 1 ligoje |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Kartais (5–29%) | 1 ligoje |
| SNRPBsmall nuclear ribonucleoprotein polypeptides B and B1 | Kartais (5–29%) | 1 ligoje |
| TERCtelomerase RNA component | Kartais (5–29%) | 2 ligose |
| TERTtelomerase reverse transcriptase | Kartais (5–29%) | 2 ligose |
| TINF2TERF1 interacting nuclear factor 2 | Kartais (5–29%) | 4 ligose |
| TYMSthymidylate synthetase | Kartais (5–29%) | 1 ligoje |
| USB1U6 snRNA biogenesis phosphodiesterase 1 | Kartais (5–29%) | 1 ligoje |
| USP18ubiquitin specific peptidase 18 | Kartais (5–29%) | 1 ligoje |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Kartais (5–29%) | 2 ligose |
| WRAP53WD repeat containing antisense to TP53 | Kartais (5–29%) | 1 ligoje |
| ZBTB20zinc finger and BTB domain containing 20 | Kartais (5–29%) | 1 ligoje |
| ZNFX1zinc finger NFX1-type containing 1 | Kartais (5–29%) | 1 ligoje |
| CLCNKBchloride voltage-gated channel Kb | Retai (1–4 %) | 1 ligoje |
| SLC12A3solute carrier family 12 member 3 | Retai (1–4 %) | 1 ligoje |
| CCM2CCM2 scaffold protein | Neužfiksuota | 1 ligoje |
| DAG1dystroglycan 1 | Neužfiksuota | 1 ligoje |
| IFNGinterferon gamma | Neužfiksuota | 1 ligoje |
| KRIT1KRIT1 ankyrin repeat containing | Neužfiksuota | 1 ligoje |
| MGPmatrix Gla protein | Neužfiksuota | 1 ligoje |
| PAHphenylalanine hydroxylase | Neužfiksuota | 1 ligoje |
| PDCD10programmed cell death 10 | Neužfiksuota | 1 ligoje |
| PTHparathyroid hormone | Neužfiksuota | 1 ligoje |
| QDPRquinoid dihydropteridine reductase | Neužfiksuota | 1 ligoje |
| TSC1TSC complex subunit 1 | Neužfiksuota | 1 ligoje |
| TSC2TSC complex subunit 2 | Neužfiksuota | 1 ligoje |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
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- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
- Duomenų leidimas 2026.10.17-8666dff2.
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Vienas testas. Atsakymai visam gyvenimui.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites