Tunnus
Abnormal tissue mass
Kliiniline nimetus: 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).
Kokkuvõte
- Teised nimetused
- Cancer, Neoplasia, Oncological abnormality, Tumor, Tumour
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Abnormal tissue mass, and the rest of your genome, with one test.
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Telli oma Genome Test124 geeni on seotud tunnusega Abnormal tissue mass
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Abnormal tissue mass. 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 |
|---|---|---|
| PAN2poly(A) specific ribonuclease subunit PAN2 | Alati | Esineb 1 haiguses |
| RAB32RAB32, member RAS oncogene family | Alati | Esineb 1 haiguses |
| BRCA1BRCA1 DNA repair associated | Väga sageli (80–99%) | Esineb 2 haiguses |
| BRCA2BRCA2 DNA repair associated | Väga sageli (80–99%) | Esineb 2 haiguses |
| BRD4bromodomain containing 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CDKN2Acyclin dependent kinase inhibitor 2A | Väga sageli (80–99%) | Esineb 1 haiguses |
| CHEK2checkpoint kinase 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CTR9CTR9 component of Paf1/RNA polymerase II complex | Väga sageli (80–99%) | Esineb 1 haiguses |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| GPC3glypican 3 | Väga sageli (80–99%) | Esineb 2 haiguses |
| H19H19 imprinted maternally expressed transcript | Väga sageli (80–99%) | Esineb 1 haiguses |
| MDM2MDM2 proto-oncogene | Väga sageli (80–99%) | Esineb 1 haiguses |
| NUTM1NUT midline carcinoma family member 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| POU6F2POU class 6 homeobox 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PTCH1patched 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PTCH2patched 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RESTRE1 silencing transcription factor | Väga sageli (80–99%) | Esineb 1 haiguses |
| SUFUSUFU negative regulator of hedgehog signaling | Väga sageli (80–99%) | Esineb 1 haiguses |
| TP53tumor protein p53 | Väga sageli (80–99%) | Esineb 2 haiguses |
| TRIM28tripartite motif containing 28 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TRIP13thyroid hormone receptor interactor 13 | Väga sageli (80–99%) | Esineb 2 haiguses |
| WT1WT1 transcription factor | Väga sageli (80–99%) | Esineb 1 haiguses |
| ACDACD shelterin complex subunit and telomerase recruitment factor | Sageli (30–79%) | Esineb 2 haiguses |
| ATMATM serine/threonine kinase | Sageli (30–79%) | Esineb 1 haiguses |
| BCRBCR activator of RhoGEF and GTPase | Sageli (30–79%) | Esineb 1 haiguses |
| BLMBLM RecQ like helicase | Sageli (30–79%) | Esineb 1 haiguses |
| BRIP1BRCA1 interacting DNA helicase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| CRKLCRK like proto-oncogene, adaptor protein | Sageli (30–79%) | Esineb 1 haiguses |
| CTC1CST telomere replication complex component 1 | Sageli (30–79%) | Esineb 1 haiguses |
| DKC1dyskerin pseudouridine synthase 1 | Sageli (30–79%) | Esineb 2 haiguses |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Sageli (30–79%) | Esineb 2 haiguses |
| FAAP100FA core complex associated protein 100 | Sageli (30–79%) | Esineb 1 haiguses |
| FANCAFA complementation group A | Sageli (30–79%) | Esineb 1 haiguses |
| FANCBFA complementation group B | Sageli (30–79%) | Esineb 1 haiguses |
| FANCCFA complementation group C | Sageli (30–79%) | Esineb 1 haiguses |
| FANCD2FA complementation group D2 | Sageli (30–79%) | Esineb 1 haiguses |
| FANCEFA complementation group E | Sageli (30–79%) | Esineb 1 haiguses |
| FANCFFA complementation group F | Sageli (30–79%) | Esineb 1 haiguses |
| FANCGFA complementation group G | Sageli (30–79%) | Esineb 1 haiguses |
| FANCIFA complementation group I | Sageli (30–79%) | Esineb 1 haiguses |
Näita veel 84 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| FANCLFA complementation group L | Sageli (30–79%) | Esineb 1 haiguses |
| FANCMFA complementation group M | Sageli (30–79%) | Esineb 1 haiguses |
| MAD2L2mitotic arrest deficient 2 like 2 | Sageli (30–79%) | Esineb 1 haiguses |
| MAPK1mitogen-activated protein kinase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| NBNnibrin | Sageli (30–79%) | Esineb 1 haiguses |
| NHP2NHP2 ribonucleoprotein | Sageli (30–79%) | Esineb 1 haiguses |
| NOP10NOP10 ribonucleoprotein | Sageli (30–79%) | Esineb 1 haiguses |
| NPM1nucleophosmin 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PALB2partner and localizer of BRCA2 | Sageli (30–79%) | Esineb 1 haiguses |
| PARNpoly(A)-specific ribonuclease | Sageli (30–79%) | Esineb 2 haiguses |
| PTENphosphatase and tensin homolog | Sageli (30–79%) | Esineb 2 haiguses |
| RAD51RAD51 recombinase | Sageli (30–79%) | Esineb 1 haiguses |
| RAD51CRAD51 paralog C | Sageli (30–79%) | Esineb 1 haiguses |
| RFWD3ring finger and WD repeat domain 3 | Sageli (30–79%) | Esineb 1 haiguses |
| RTEL1regulator of telomere elongation helicase 1 | Sageli (30–79%) | Esineb 2 haiguses |
| SLX4SLX4 structure-specific endonuclease subunit | Sageli (30–79%) | Esineb 1 haiguses |
| TERCtelomerase RNA component | Sageli (30–79%) | Esineb 2 haiguses |
| TERTtelomerase reverse transcriptase | Sageli (30–79%) | Esineb 2 haiguses |
| TINF2TERF1 interacting nuclear factor 2 | Sageli (30–79%) | Esineb 2 haiguses |
| TYMSthymidylate synthetase | Sageli (30–79%) | Esineb 1 haiguses |
| UBE2Tubiquitin conjugating enzyme E2 T | Sageli (30–79%) | Esineb 1 haiguses |
| USB1U6 snRNA biogenesis phosphodiesterase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| WRAP53WD repeat containing antisense to TP53 | Sageli (30–79%) | Esineb 1 haiguses |
| XRCC2X-ray repair cross complementing 2 | Sageli (30–79%) | Esineb 1 haiguses |
| AKT1AKT serine/threonine kinase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BTKBruton tyrosine kinase | Mõnikord (5–29%) | Esineb 1 haiguses |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Mõnikord (5–29%) | Esineb 1 haiguses |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Mõnikord (5–29%) | Esineb 1 haiguses |
| BUB3BUB3 mitotic checkpoint protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| CARD14caspase recruitment domain family member 14 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CEP57centrosomal protein 57 | Mõnikord (5–29%) | Esineb 1 haiguses |
| COQ6coenzyme Q6, monooxygenase | Mõnikord (5–29%) | Esineb 1 haiguses |
| CREBBPCREB binding lysine acetyltransferase | Mõnikord (5–29%) | Esineb 2 haiguses |
| DCLRE1CDNA cross-link repair 1C | Mõnikord (5–29%) | Esineb 1 haiguses |
| DDB2damage specific DNA binding protein 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Mõnikord (5–29%) | Esineb 2 haiguses |
| ERCC5ERCC excision repair 5, endonuclease | Mõnikord (5–29%) | Esineb 1 haiguses |
| FLCNfolliculin | Mõnikord (5–29%) | Esineb 1 haiguses |
| GPC4glypican 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IDH1isocitrate dehydrogenase (NADP(+)) 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IDH2isocitrate dehydrogenase (NADP(+)) 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LZTR1leucine zipper like post translational regulator 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MEFVMEFV innate immunity regulator, pyrin | Mõnikord (5–29%) | Esineb 1 haiguses |
| NAB2NGFI-A binding protein 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NF2NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | Mõnikord (5–29%) | Esineb 1 haiguses |
| PCNAproliferating cell nuclear antigen | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Mõnikord (5–29%) | Esineb 1 haiguses |
| PNPpurine nucleoside phosphorylase | Mõnikord (5–29%) | Esineb 1 haiguses |
| PRDM10PR/SET domain 10 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PTH1Rparathyroid hormone 1 receptor | Mõnikord (5–29%) | Esineb 1 haiguses |
| PTPN6protein tyrosine phosphatase non-receptor type 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| STAT6signal transducer and activator of transcription 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| STK11serine/threonine kinase 11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| USP9Xubiquitin specific peptidase 9 X-linked | Mõnikord (5–29%) | Esineb 1 haiguses |
| WASWASP actin nucleation promoting factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| WRNWRN RecQ like helicase | Mõnikord (5–29%) | Esineb 1 haiguses |
| XPAXPA, DNA damage recognition and repair factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| XPCXPC complex subunit, DNA damage recognition and repair factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| APC2APC regulator of Wnt signaling pathway 2 | Harva (1–4%) | Esineb 1 haiguses |
| BCHEbutyrylcholinesterase | Harva (1–4%) | Esineb 1 haiguses |
| NSD1nuclear receptor binding SET domain protein 1 | Harva (1–4%) | Esineb 1 haiguses |
| ARandrogen receptor | Pole registreeritud | Esineb 1 haiguses |
| BPTFbromodomain PHD finger transcription factor | Pole registreeritud | Esineb 1 haiguses |
| CD19CD19 molecule | Pole registreeritud | Esineb 1 haiguses |
| CR2complement C3d receptor 2 | Pole registreeritud | Esineb 1 haiguses |
| CYLDCYLD lysine 63 deubiquitinase | Pole registreeritud | Esineb 1 haiguses |
| CYP2D6cytochrome P450 family 2 subfamily D member 6 (gene/pseudogene) | Pole registreeritud | Esineb 1 haiguses |
| EP300EP300 lysine acetyltransferase | Pole registreeritud | Esineb 1 haiguses |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Pole registreeritud | Esineb 1 haiguses |
| FGFR3fibroblast growth factor receptor 3 | Pole registreeritud | Esineb 1 haiguses |
| GNASGNAS complex locus | Pole registreeritud | Esineb 1 haiguses |
| ICOSinducible T cell costimulator | Pole registreeritud | Esineb 1 haiguses |
| IL6interleukin 6 | Pole registreeritud | Esineb 1 haiguses |
| KIF1Bkinesin family member 1B | Pole registreeritud | Esineb 1 haiguses |
| KITKIT proto-oncogene, receptor tyrosine kinase | Pole registreeritud | Esineb 1 haiguses |
| MAXMYC associated transcriptional regulator X | Pole registreeritud | Esineb 1 haiguses |
| RETret proto-oncogene | Pole registreeritud | Esineb 1 haiguses |
| SDHAF2succinate dehydrogenase complex assembly factor 2 | Pole registreeritud | Esineb 1 haiguses |
| TMEM127transmembrane protein 127 | Pole registreeritud | Esineb 1 haiguses |
| TNFRSF13BTNF receptor superfamily member 13B | Pole registreeritud | Esineb 1 haiguses |
| TNFRSF13CTNF receptor superfamily member 13C | Pole registreeritud | Esineb 1 haiguses |
| VHLvon Hippel-Lindau tumor suppressor | 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
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.
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Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast