Tunnus
Spinal dimple
Kliiniline nimetus: Sacral dimple
A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the intergluteal cleft.
Kokkuvõte
- Teised nimetused
- Pilonidal dimple
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Spinal dimple, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test126 geeni on seotud tunnusega Spinal dimple
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Spinal dimple. 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 |
|---|---|---|
| CAMK2Gcalcium/calmodulin dependent protein kinase II gamma | Alati | Esineb 1 haiguses |
| DHCR77-dehydrocholesterol reductase | Alati | Esineb 1 haiguses |
| DONSONDNA replication fork stabilization factor DONSON | Alati | Esineb 1 haiguses |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Alati | Esineb 2 haiguses |
| EBPEBP cholestenol delta-isomerase | Alati | Esineb 2 haiguses |
| ERI1exoribonuclease 1 | Alati | Esineb 1 haiguses |
| EXTL3exostosin like glycosyltransferase 3 | Alati | Esineb 2 haiguses |
| FAT4FAT atypical cadherin 4 | Alati | Esineb 1 haiguses |
| FDXRferredoxin reductase | Alati | Esineb 1 haiguses |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Alati | Esineb 1 haiguses |
| KDM6Blysine demethylase 6B | Alati | Esineb 1 haiguses |
| LRRC7leucine rich repeat containing 7 | Alati | Esineb 1 haiguses |
| MED16mediator complex subunit 16 | Alati | Esineb 1 haiguses |
| NCAPG2non-SMC condensin II complex subunit G2 | Alati | Esineb 1 haiguses |
| NSD2nuclear receptor binding SET domain protein 2 | Alati | Esineb 3 haiguses |
| PRMT7protein arginine methyltransferase 7 | Alati | Esineb 1 haiguses |
| PTBP1polypyrimidine tract binding protein 1 | Alati | Esineb 1 haiguses |
| RNU5B-1RNA, U5B small nuclear 1 | Alati | Esineb 1 haiguses |
| TBX5T-box transcription factor 5 | Alati | Esineb 1 haiguses |
| TM2D3TM2 domain containing 3 | Alati | Esineb 1 haiguses |
| TOP2BDNA topoisomerase II beta | Alati | Esineb 1 haiguses |
| ZIC3Zic family zinc finger 3 | Alati | Esineb 1 haiguses |
| ASXL1ASXL transcriptional regulator 1 | Sageli (30–79%) | Esineb 1 haiguses |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Sageli (30–79%) | Esineb 1 haiguses |
| BICD2BICD cargo adaptor 2 | Sageli (30–79%) | Esineb 1 haiguses |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Sageli (30–79%) | Esineb 1 haiguses |
| CD96CD96 molecule | Sageli (30–79%) | Esineb 1 haiguses |
| CDK10cyclin dependent kinase 10 | Sageli (30–79%) | Esineb 1 haiguses |
| CLIP2CAP-Gly domain containing linker protein 2 | Sageli (30–79%) | Esineb 1 haiguses |
| COLEC10collectin subfamily member 10 | Sageli (30–79%) | Esineb 1 haiguses |
| CPLX1complexin 1 | Sageli (30–79%) | Esineb 2 haiguses |
| CTBP1C-terminal binding protein 1 | Sageli (30–79%) | Esineb 2 haiguses |
| DEAF1DEAF1 transcription factor | Sageli (30–79%) | Esineb 1 haiguses |
| DHPSdeoxyhypusine synthase | Sageli (30–79%) | Esineb 1 haiguses |
| DICER1dicer 1, ribonuclease III | Sageli (30–79%) | Esineb 1 haiguses |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Sageli (30–79%) | Esineb 1 haiguses |
| DVL1dishevelled segment polarity protein 1 | Sageli (30–79%) | Esineb 3 haiguses |
| EIF4Heukaryotic translation initiation factor 4H | Sageli (30–79%) | Esineb 1 haiguses |
| ELNelastin | Sageli (30–79%) | Esineb 1 haiguses |
| FANCFFA complementation group F | Sageli (30–79%) | Esineb 1 haiguses |
Näita veel 86 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Sageli (30–79%) | Esineb 1 haiguses |
| GTF2Igeneral transcription factor IIi | Sageli (30–79%) | Esineb 1 haiguses |
| GTF2IRD1GTF2I repeat domain containing 1 | Sageli (30–79%) | Esineb 1 haiguses |
| GTF2IRD2GTF2I repeat domain containing 2 | Sageli (30–79%) | Esineb 1 haiguses |
| KCNK9potassium two pore domain channel subfamily K member 9 | Sageli (30–79%) | Esineb 2 haiguses |
| KDM6Alysine demethylase 6A | Sageli (30–79%) | Esineb 1 haiguses |
| KMT2Alysine methyltransferase 2A | Sageli (30–79%) | Esineb 2 haiguses |
| KMT2Dlysine methyltransferase 2D | Sageli (30–79%) | Esineb 1 haiguses |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Sageli (30–79%) | Esineb 2 haiguses |
| LIMK1LIM domain kinase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| METTL27methyltransferase like 27 | Sageli (30–79%) | Esineb 1 haiguses |
| NADSYN1NAD synthetase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| NCF1neutrophil cytosolic factor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| NELFAnegative elongation factor complex member A | Sageli (30–79%) | Esineb 1 haiguses |
| OTUD6BOTU deubiquitinase 6B | Sageli (30–79%) | Esineb 2 haiguses |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Sageli (30–79%) | Esineb 1 haiguses |
| PRR12proline rich 12 | Sageli (30–79%) | Esineb 1 haiguses |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Sageli (30–79%) | Esineb 1 haiguses |
| RFC2replication factor C subunit 2 | Sageli (30–79%) | Esineb 1 haiguses |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Sageli (30–79%) | Esineb 1 haiguses |
| SPOPspeckle type BTB/POZ protein | Sageli (30–79%) | Esineb 1 haiguses |
| STX1Asyntaxin 1A | Sageli (30–79%) | Esineb 1 haiguses |
| TAF1TATA-box binding protein associated factor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TBL2transducin beta like 2 | Sageli (30–79%) | Esineb 1 haiguses |
| TMEM270transmembrane protein 270 | Sageli (30–79%) | Esineb 1 haiguses |
| VPS37DVPS37D subunit of ESCRT-I | Sageli (30–79%) | Esineb 1 haiguses |
| WNT5AWnt family member 5A | Sageli (30–79%) | Esineb 2 haiguses |
| AEBP1AE binding protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| AFF3ALF transcription elongation factor 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ANK1ankyrin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ARID1BAT-rich interaction domain 1B | Mõnikord (5–29%) | Esineb 1 haiguses |
| B3GLCTbeta 3-glucosyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| BAP1BRCA1 associated deubiquitinase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BRPF1bromodomain and PHD finger containing 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CAPN15calpain 15 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CAPRIN1cell cycle associated protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| COX7Bcytochrome c oxidase subunit 7B | Mõnikord (5–29%) | Esineb 1 haiguses |
| CTCFCCCTC-binding factor | Mõnikord (5–29%) | Esineb 2 haiguses |
| DVL3dishevelled segment polarity protein 3 | Mõnikord (5–29%) | Esineb 2 haiguses |
| FGFRL1fibroblast growth factor receptor like 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FRYLFRY like transcription coactivator | Mõnikord (5–29%) | Esineb 1 haiguses |
| FZD2frizzled class receptor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GNB2G protein subunit beta 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| H4C5H4 clustered histone 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HCCSholocytochrome c synthase | Mõnikord (5–29%) | Esineb 1 haiguses |
| HIC1HIC ZBTB transcriptional repressor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HIVEP2HIVEP zinc finger 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HOXA13homeobox A13 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KIF15kinesin family member 15 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LIFRLIF receptor subunit alpha | Mõnikord (5–29%) | Esineb 1 haiguses |
| MAN2C1mannosidase alpha class 2C member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MED12mediator complex subunit 12 | Mõnikord (5–29%) | Esineb 2 haiguses |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NXNnucleoredoxin | Mõnikord (5–29%) | Esineb 1 haiguses |
| ODC1ornithine decarboxylase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| POLA1DNA polymerase alpha 1, catalytic subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Mõnikord (5–29%) | Esineb 1 haiguses |
| ROR2ROR family WNT receptor 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| RPL10ribosomal protein L10 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SCARF2scavenger receptor class F member 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SETD5SET domain containing 5 | Mõnikord (5–29%) | Esineb 2 haiguses |
| SLC6A1solute carrier family 6 member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC6A11solute carrier family 6 member 11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SMAD4SMAD family member 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SMC5structural maintenance of chromosomes 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SMG9SMG9 nonsense mediated mRNA decay factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| SMOC1SPARC related modular calcium binding 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SUGCTsuccinyl-CoA:glutarate-CoA transferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| TBX4T-box transcription factor 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TCF4transcription factor 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| USP9Xubiquitin specific peptidase 9 X-linked | Mõnikord (5–29%) | Esineb 2 haiguses |
| WLSWnt ligand secretion mediator | Mõnikord (5–29%) | Esineb 1 haiguses |
| YWHAEtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZNF699zinc finger protein 699 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MSL2MSL complex subunit 2 | Harva (1–4%) | Esineb 1 haiguses |
| B9D2B9 domain containing 2 | Pole registreeritud | Esineb 1 haiguses |
| DCHS1dachsous cadherin-related 1 | Pole registreeritud | Esineb 1 haiguses |
| FUZfuzzy planar cell polarity protein | Pole registreeritud | Esineb 1 haiguses |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Pole registreeritud | Esineb 1 haiguses |
| MASP1MBL associated serine protease 1 | Pole registreeritud | Esineb 1 haiguses |
| RAB23RAB23, member RAS oncogene family | Pole registreeritud | Esineb 1 haiguses |
| TBXTT-box transcription factor T | Pole registreeritud | Esineb 1 haiguses |
| TMCO1transmembrane and coiled-coil domains 1 | Pole registreeritud | Esineb 1 haiguses |
| VANGL1VANGL planar cell polarity protein 1 | Pole registreeritud | Esineb 1 haiguses |
| VANGL2VANGL planar cell polarity protein 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.
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.
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast