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Požymis
Abnormal tissue mass
Klinikinis pavadinimas: Neoplasm
An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumor).
Santrauka
- Taip pat vadinama
- Cancer, Neoplasia, Oncological abnormality, Tumor, Tumour
Abnormal tissue massHP:0002664
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Read the genes linked to Abnormal tissue mass, and the rest of your genome, with one test.
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Įsigyti savo Genome Test124 genų susiję su Abnormal tissue mass
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Abnormal tissue mass. 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 |
|---|---|---|
| PAN2poly(A) specific ribonuclease subunit PAN2 | Visada | 1 ligoje |
| RAB32RAB32, member RAS oncogene family | Visada | 1 ligoje |
| BRCA1BRCA1 DNA repair associated | Labai dažnai (80–99%) | 2 ligose |
| BRCA2BRCA2 DNA repair associated | Labai dažnai (80–99%) | 2 ligose |
| BRD4bromodomain containing 4 | Labai dažnai (80–99%) | 1 ligoje |
| CDKN2Acyclin dependent kinase inhibitor 2A | Labai dažnai (80–99%) | 1 ligoje |
| CHEK2checkpoint kinase 2 | Labai dažnai (80–99%) | 1 ligoje |
| CTR9CTR9 component of Paf1/RNA polymerase II complex | Labai dažnai (80–99%) | 1 ligoje |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Labai dažnai (80–99%) | 1 ligoje |
| GPC3glypican 3 | Labai dažnai (80–99%) | 2 ligose |
| H19H19 imprinted maternally expressed transcript | Labai dažnai (80–99%) | 1 ligoje |
| MDM2MDM2 proto-oncogene | Labai dažnai (80–99%) | 1 ligoje |
| NUTM1NUT midline carcinoma family member 1 | Labai dažnai (80–99%) | 1 ligoje |
| POU6F2POU class 6 homeobox 2 | Labai dažnai (80–99%) | 1 ligoje |
| PTCH1patched 1 | Labai dažnai (80–99%) | 1 ligoje |
| PTCH2patched 2 | Labai dažnai (80–99%) | 1 ligoje |
| RESTRE1 silencing transcription factor | Labai dažnai (80–99%) | 1 ligoje |
| SUFUSUFU negative regulator of hedgehog signaling | Labai dažnai (80–99%) | 1 ligoje |
| TP53tumor protein p53 | Labai dažnai (80–99%) | 2 ligose |
| TRIM28tripartite motif containing 28 | Labai dažnai (80–99%) | 1 ligoje |
| TRIP13thyroid hormone receptor interactor 13 | Labai dažnai (80–99%) | 2 ligose |
| WT1WT1 transcription factor | Labai dažnai (80–99%) | 1 ligoje |
| ACDACD shelterin complex subunit and telomerase recruitment factor | Dažnai (30–79%) | 2 ligose |
| ATMATM serine/threonine kinase | Dažnai (30–79%) | 1 ligoje |
| BCRBCR activator of RhoGEF and GTPase | Dažnai (30–79%) | 1 ligoje |
| BLMBLM RecQ like helicase | Dažnai (30–79%) | 1 ligoje |
| BRIP1BRCA1 interacting DNA helicase 1 | Dažnai (30–79%) | 1 ligoje |
| CRKLCRK like proto-oncogene, adaptor protein | Dažnai (30–79%) | 1 ligoje |
| CTC1CST telomere replication complex component 1 | Dažnai (30–79%) | 1 ligoje |
| DKC1dyskerin pseudouridine synthase 1 | Dažnai (30–79%) | 2 ligose |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Dažnai (30–79%) | 2 ligose |
| FAAP100FA core complex associated protein 100 | Dažnai (30–79%) | 1 ligoje |
| FANCAFA complementation group A | Dažnai (30–79%) | 1 ligoje |
| FANCBFA complementation group B | Dažnai (30–79%) | 1 ligoje |
| FANCCFA complementation group C | Dažnai (30–79%) | 1 ligoje |
| FANCD2FA complementation group D2 | Dažnai (30–79%) | 1 ligoje |
| FANCEFA complementation group E | Dažnai (30–79%) | 1 ligoje |
| FANCFFA complementation group F | Dažnai (30–79%) | 1 ligoje |
| FANCGFA complementation group G | Dažnai (30–79%) | 1 ligoje |
| FANCIFA complementation group I | Dažnai (30–79%) | 1 ligoje |
Rodyti dar 84 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| FANCLFA complementation group L | Dažnai (30–79%) | 1 ligoje |
| FANCMFA complementation group M | Dažnai (30–79%) | 1 ligoje |
| MAD2L2mitotic arrest deficient 2 like 2 | Dažnai (30–79%) | 1 ligoje |
| MAPK1mitogen-activated protein kinase 1 | Dažnai (30–79%) | 1 ligoje |
| NBNnibrin | Dažnai (30–79%) | 1 ligoje |
| NHP2NHP2 ribonucleoprotein | Dažnai (30–79%) | 1 ligoje |
| NOP10NOP10 ribonucleoprotein | Dažnai (30–79%) | 1 ligoje |
| NPM1nucleophosmin 1 | Dažnai (30–79%) | 1 ligoje |
| PALB2partner and localizer of BRCA2 | Dažnai (30–79%) | 1 ligoje |
| PARNpoly(A)-specific ribonuclease | Dažnai (30–79%) | 2 ligose |
| PTENphosphatase and tensin homolog | Dažnai (30–79%) | 2 ligose |
| RAD51RAD51 recombinase | Dažnai (30–79%) | 1 ligoje |
| RAD51CRAD51 paralog C | Dažnai (30–79%) | 1 ligoje |
| RFWD3ring finger and WD repeat domain 3 | Dažnai (30–79%) | 1 ligoje |
| RTEL1regulator of telomere elongation helicase 1 | Dažnai (30–79%) | 2 ligose |
| SLX4SLX4 structure-specific endonuclease subunit | Dažnai (30–79%) | 1 ligoje |
| TERCtelomerase RNA component | Dažnai (30–79%) | 2 ligose |
| TERTtelomerase reverse transcriptase | Dažnai (30–79%) | 2 ligose |
| TINF2TERF1 interacting nuclear factor 2 | Dažnai (30–79%) | 2 ligose |
| TYMSthymidylate synthetase | Dažnai (30–79%) | 1 ligoje |
| UBE2Tubiquitin conjugating enzyme E2 T | Dažnai (30–79%) | 1 ligoje |
| USB1U6 snRNA biogenesis phosphodiesterase 1 | Dažnai (30–79%) | 1 ligoje |
| WRAP53WD repeat containing antisense to TP53 | Dažnai (30–79%) | 1 ligoje |
| XRCC2X-ray repair cross complementing 2 | Dažnai (30–79%) | 1 ligoje |
| AKT1AKT serine/threonine kinase 1 | Kartais (5–29%) | 1 ligoje |
| BTKBruton tyrosine kinase | Kartais (5–29%) | 1 ligoje |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Kartais (5–29%) | 1 ligoje |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Kartais (5–29%) | 1 ligoje |
| BUB3BUB3 mitotic checkpoint protein | Kartais (5–29%) | 1 ligoje |
| CARD14caspase recruitment domain family member 14 | Kartais (5–29%) | 1 ligoje |
| CEP57centrosomal protein 57 | Kartais (5–29%) | 1 ligoje |
| COQ6coenzyme Q6, monooxygenase | Kartais (5–29%) | 1 ligoje |
| CREBBPCREB binding lysine acetyltransferase | Kartais (5–29%) | 2 ligose |
| DCLRE1CDNA cross-link repair 1C | Kartais (5–29%) | 1 ligoje |
| DDB2damage specific DNA binding protein 2 | Kartais (5–29%) | 1 ligoje |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Kartais (5–29%) | 1 ligoje |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Kartais (5–29%) | 2 ligose |
| ERCC5ERCC excision repair 5, endonuclease | Kartais (5–29%) | 1 ligoje |
| FLCNfolliculin | Kartais (5–29%) | 1 ligoje |
| GPC4glypican 4 | Kartais (5–29%) | 1 ligoje |
| IDH1isocitrate dehydrogenase (NADP(+)) 1 | Kartais (5–29%) | 1 ligoje |
| IDH2isocitrate dehydrogenase (NADP(+)) 2 | Kartais (5–29%) | 1 ligoje |
| LZTR1leucine zipper like post translational regulator 1 | Kartais (5–29%) | 1 ligoje |
| MEFVMEFV innate immunity regulator, pyrin | Kartais (5–29%) | 1 ligoje |
| NAB2NGFI-A binding protein 2 | Kartais (5–29%) | 1 ligoje |
| NF2NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | Kartais (5–29%) | 1 ligoje |
| PCNAproliferating cell nuclear antigen | Kartais (5–29%) | 1 ligoje |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Kartais (5–29%) | 1 ligoje |
| PNPpurine nucleoside phosphorylase | Kartais (5–29%) | 1 ligoje |
| PRDM10PR/SET domain 10 | Kartais (5–29%) | 1 ligoje |
| PTH1Rparathyroid hormone 1 receptor | Kartais (5–29%) | 1 ligoje |
| PTPN6protein tyrosine phosphatase non-receptor type 6 | Kartais (5–29%) | 1 ligoje |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Kartais (5–29%) | 1 ligoje |
| STAT6signal transducer and activator of transcription 6 | Kartais (5–29%) | 1 ligoje |
| STK11serine/threonine kinase 11 | Kartais (5–29%) | 1 ligoje |
| USP9Xubiquitin specific peptidase 9 X-linked | Kartais (5–29%) | 1 ligoje |
| WASWASP actin nucleation promoting factor | Kartais (5–29%) | 1 ligoje |
| WRNWRN RecQ like helicase | Kartais (5–29%) | 1 ligoje |
| XPAXPA, DNA damage recognition and repair factor | Kartais (5–29%) | 1 ligoje |
| XPCXPC complex subunit, DNA damage recognition and repair factor | Kartais (5–29%) | 1 ligoje |
| APC2APC regulator of Wnt signaling pathway 2 | Retai (1–4 %) | 1 ligoje |
| BCHEbutyrylcholinesterase | Retai (1–4 %) | 1 ligoje |
| NSD1nuclear receptor binding SET domain protein 1 | Retai (1–4 %) | 1 ligoje |
| ARandrogen receptor | Neužfiksuota | 1 ligoje |
| BPTFbromodomain PHD finger transcription factor | Neužfiksuota | 1 ligoje |
| CD19CD19 molecule | Neužfiksuota | 1 ligoje |
| CR2complement C3d receptor 2 | Neužfiksuota | 1 ligoje |
| CYLDCYLD lysine 63 deubiquitinase | Neužfiksuota | 1 ligoje |
| CYP2D6cytochrome P450 family 2 subfamily D member 6 (gene/pseudogene) | Neužfiksuota | 1 ligoje |
| EP300EP300 lysine acetyltransferase | Neužfiksuota | 1 ligoje |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Neužfiksuota | 1 ligoje |
| FGFR3fibroblast growth factor receptor 3 | Neužfiksuota | 1 ligoje |
| GNASGNAS complex locus | Neužfiksuota | 1 ligoje |
| ICOSinducible T cell costimulator | Neužfiksuota | 1 ligoje |
| IL6interleukin 6 | Neužfiksuota | 1 ligoje |
| KIF1Bkinesin family member 1B | Neužfiksuota | 1 ligoje |
| KITKIT proto-oncogene, receptor tyrosine kinase | Neužfiksuota | 1 ligoje |
| MAXMYC associated transcriptional regulator X | Neužfiksuota | 1 ligoje |
| RETret proto-oncogene | Neužfiksuota | 1 ligoje |
| SDHAF2succinate dehydrogenase complex assembly factor 2 | Neužfiksuota | 1 ligoje |
| TMEM127transmembrane protein 127 | Neužfiksuota | 1 ligoje |
| TNFRSF13BTNF receptor superfamily member 13B | Neužfiksuota | 1 ligoje |
| TNFRSF13CTNF receptor superfamily member 13C | Neužfiksuota | 1 ligoje |
| VHLvon Hippel-Lindau tumor suppressor | 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 2026.10.16-c6eea6bf.
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