Požymis
Spinal dimple
Klinikinis pavadinimas: Sacral dimple
A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the intergluteal cleft.
Santrauka
- Taip pat vadinama
- Pilonidal dimple
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
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Įsigyti savo Genome Test126 genų susiję su Spinal dimple
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Spinal dimple. 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 |
|---|---|---|
| CAMK2Gcalcium/calmodulin dependent protein kinase II gamma | Visada | 1 ligoje |
| DHCR77-dehydrocholesterol reductase | Visada | 1 ligoje |
| DONSONDNA replication fork stabilization factor DONSON | Visada | 1 ligoje |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Visada | 2 ligose |
| EBPEBP cholestenol delta-isomerase | Visada | 2 ligose |
| ERI1exoribonuclease 1 | Visada | 1 ligoje |
| EXTL3exostosin like glycosyltransferase 3 | Visada | 2 ligose |
| FAT4FAT atypical cadherin 4 | Visada | 1 ligoje |
| FDXRferredoxin reductase | Visada | 1 ligoje |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Visada | 1 ligoje |
| KDM6Blysine demethylase 6B | Visada | 1 ligoje |
| LRRC7leucine rich repeat containing 7 | Visada | 1 ligoje |
| MED16mediator complex subunit 16 | Visada | 1 ligoje |
| NCAPG2non-SMC condensin II complex subunit G2 | Visada | 1 ligoje |
| NSD2nuclear receptor binding SET domain protein 2 | Visada | 3 ligose |
| PRMT7protein arginine methyltransferase 7 | Visada | 1 ligoje |
| PTBP1polypyrimidine tract binding protein 1 | Visada | 1 ligoje |
| RNU5B-1RNA, U5B small nuclear 1 | Visada | 1 ligoje |
| TBX5T-box transcription factor 5 | Visada | 1 ligoje |
| TM2D3TM2 domain containing 3 | Visada | 1 ligoje |
| TOP2BDNA topoisomerase II beta | Visada | 1 ligoje |
| ZIC3Zic family zinc finger 3 | Visada | 1 ligoje |
| ASXL1ASXL transcriptional regulator 1 | Dažnai (30–79%) | 1 ligoje |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Dažnai (30–79%) | 1 ligoje |
| BICD2BICD cargo adaptor 2 | Dažnai (30–79%) | 1 ligoje |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Dažnai (30–79%) | 1 ligoje |
| CD96CD96 molecule | Dažnai (30–79%) | 1 ligoje |
| CDK10cyclin dependent kinase 10 | Dažnai (30–79%) | 1 ligoje |
| CLIP2CAP-Gly domain containing linker protein 2 | Dažnai (30–79%) | 1 ligoje |
| COLEC10collectin subfamily member 10 | Dažnai (30–79%) | 1 ligoje |
| CPLX1complexin 1 | Dažnai (30–79%) | 2 ligose |
| CTBP1C-terminal binding protein 1 | Dažnai (30–79%) | 2 ligose |
| DEAF1DEAF1 transcription factor | Dažnai (30–79%) | 1 ligoje |
| DHPSdeoxyhypusine synthase | Dažnai (30–79%) | 1 ligoje |
| DICER1dicer 1, ribonuclease III | Dažnai (30–79%) | 1 ligoje |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Dažnai (30–79%) | 1 ligoje |
| DVL1dishevelled segment polarity protein 1 | Dažnai (30–79%) | 3 ligose |
| EIF4Heukaryotic translation initiation factor 4H | Dažnai (30–79%) | 1 ligoje |
| ELNelastin | Dažnai (30–79%) | 1 ligoje |
| FANCFFA complementation group F | Dažnai (30–79%) | 1 ligoje |
Rodyti dar 86 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Dažnai (30–79%) | 1 ligoje |
| GTF2Igeneral transcription factor IIi | Dažnai (30–79%) | 1 ligoje |
| GTF2IRD1GTF2I repeat domain containing 1 | Dažnai (30–79%) | 1 ligoje |
| GTF2IRD2GTF2I repeat domain containing 2 | Dažnai (30–79%) | 1 ligoje |
| KCNK9potassium two pore domain channel subfamily K member 9 | Dažnai (30–79%) | 2 ligose |
| KDM6Alysine demethylase 6A | Dažnai (30–79%) | 1 ligoje |
| KMT2Alysine methyltransferase 2A | Dažnai (30–79%) | 2 ligose |
| KMT2Dlysine methyltransferase 2D | Dažnai (30–79%) | 1 ligoje |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Dažnai (30–79%) | 2 ligose |
| LIMK1LIM domain kinase 1 | Dažnai (30–79%) | 1 ligoje |
| METTL27methyltransferase like 27 | Dažnai (30–79%) | 1 ligoje |
| NADSYN1NAD synthetase 1 | Dažnai (30–79%) | 1 ligoje |
| NCF1neutrophil cytosolic factor 1 | Dažnai (30–79%) | 1 ligoje |
| NELFAnegative elongation factor complex member A | Dažnai (30–79%) | 1 ligoje |
| OTUD6BOTU deubiquitinase 6B | Dažnai (30–79%) | 2 ligose |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Dažnai (30–79%) | 1 ligoje |
| PRR12proline rich 12 | Dažnai (30–79%) | 1 ligoje |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Dažnai (30–79%) | 1 ligoje |
| RFC2replication factor C subunit 2 | Dažnai (30–79%) | 1 ligoje |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Dažnai (30–79%) | 1 ligoje |
| SPOPspeckle type BTB/POZ protein | Dažnai (30–79%) | 1 ligoje |
| STX1Asyntaxin 1A | Dažnai (30–79%) | 1 ligoje |
| TAF1TATA-box binding protein associated factor 1 | Dažnai (30–79%) | 1 ligoje |
| TBL2transducin beta like 2 | Dažnai (30–79%) | 1 ligoje |
| TMEM270transmembrane protein 270 | Dažnai (30–79%) | 1 ligoje |
| VPS37DVPS37D subunit of ESCRT-I | Dažnai (30–79%) | 1 ligoje |
| WNT5AWnt family member 5A | Dažnai (30–79%) | 2 ligose |
| AEBP1AE binding protein 1 | Kartais (5–29%) | 1 ligoje |
| AFF3ALF transcription elongation factor 3 | Kartais (5–29%) | 1 ligoje |
| ANK1ankyrin 1 | Kartais (5–29%) | 1 ligoje |
| ARID1BAT-rich interaction domain 1B | Kartais (5–29%) | 1 ligoje |
| B3GLCTbeta 3-glucosyltransferase | Kartais (5–29%) | 1 ligoje |
| BAP1BRCA1 associated deubiquitinase 1 | Kartais (5–29%) | 1 ligoje |
| BRPF1bromodomain and PHD finger containing 1 | Kartais (5–29%) | 1 ligoje |
| CAPN15calpain 15 | Kartais (5–29%) | 1 ligoje |
| CAPRIN1cell cycle associated protein 1 | Kartais (5–29%) | 1 ligoje |
| COX7Bcytochrome c oxidase subunit 7B | Kartais (5–29%) | 1 ligoje |
| CTCFCCCTC-binding factor | Kartais (5–29%) | 2 ligose |
| DVL3dishevelled segment polarity protein 3 | Kartais (5–29%) | 2 ligose |
| FGFRL1fibroblast growth factor receptor like 1 | Kartais (5–29%) | 1 ligoje |
| FRYLFRY like transcription coactivator | Kartais (5–29%) | 1 ligoje |
| FZD2frizzled class receptor 2 | Kartais (5–29%) | 1 ligoje |
| GNB2G protein subunit beta 2 | Kartais (5–29%) | 1 ligoje |
| H4C5H4 clustered histone 5 | Kartais (5–29%) | 1 ligoje |
| HCCSholocytochrome c synthase | Kartais (5–29%) | 1 ligoje |
| HIC1HIC ZBTB transcriptional repressor 1 | Kartais (5–29%) | 1 ligoje |
| HIVEP2HIVEP zinc finger 2 | Kartais (5–29%) | 1 ligoje |
| HOXA13homeobox A13 | Kartais (5–29%) | 1 ligoje |
| KIF15kinesin family member 15 | Kartais (5–29%) | 1 ligoje |
| LIFRLIF receptor subunit alpha | Kartais (5–29%) | 1 ligoje |
| MAN2C1mannosidase alpha class 2C member 1 | Kartais (5–29%) | 1 ligoje |
| MED12mediator complex subunit 12 | Kartais (5–29%) | 2 ligose |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Kartais (5–29%) | 1 ligoje |
| NXNnucleoredoxin | Kartais (5–29%) | 1 ligoje |
| ODC1ornithine decarboxylase 1 | Kartais (5–29%) | 1 ligoje |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Kartais (5–29%) | 1 ligoje |
| POLA1DNA polymerase alpha 1, catalytic subunit | Kartais (5–29%) | 1 ligoje |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Kartais (5–29%) | 1 ligoje |
| ROR2ROR family WNT receptor 2 | Kartais (5–29%) | 2 ligose |
| RPL10ribosomal protein L10 | Kartais (5–29%) | 1 ligoje |
| SCARF2scavenger receptor class F member 2 | Kartais (5–29%) | 1 ligoje |
| SETD5SET domain containing 5 | Kartais (5–29%) | 2 ligose |
| SLC6A1solute carrier family 6 member 1 | Kartais (5–29%) | 1 ligoje |
| SLC6A11solute carrier family 6 member 11 | Kartais (5–29%) | 1 ligoje |
| SMAD4SMAD family member 4 | Kartais (5–29%) | 1 ligoje |
| SMC5structural maintenance of chromosomes 5 | Kartais (5–29%) | 1 ligoje |
| SMG9SMG9 nonsense mediated mRNA decay factor | Kartais (5–29%) | 1 ligoje |
| SMOC1SPARC related modular calcium binding 1 | Kartais (5–29%) | 1 ligoje |
| SUGCTsuccinyl-CoA:glutarate-CoA transferase | Kartais (5–29%) | 1 ligoje |
| TBX4T-box transcription factor 4 | Kartais (5–29%) | 1 ligoje |
| TCF4transcription factor 4 | Kartais (5–29%) | 1 ligoje |
| USP9Xubiquitin specific peptidase 9 X-linked | Kartais (5–29%) | 2 ligose |
| WLSWnt ligand secretion mediator | Kartais (5–29%) | 1 ligoje |
| YWHAEtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon | Kartais (5–29%) | 1 ligoje |
| ZNF699zinc finger protein 699 | Kartais (5–29%) | 1 ligoje |
| MSL2MSL complex subunit 2 | Retai (1–4 %) | 1 ligoje |
| B9D2B9 domain containing 2 | Neužfiksuota | 1 ligoje |
| DCHS1dachsous cadherin-related 1 | Neužfiksuota | 1 ligoje |
| FUZfuzzy planar cell polarity protein | Neužfiksuota | 1 ligoje |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Neužfiksuota | 1 ligoje |
| MASP1MBL associated serine protease 1 | Neužfiksuota | 1 ligoje |
| RAB23RAB23, member RAS oncogene family | Neužfiksuota | 1 ligoje |
| TBXTT-box transcription factor T | Neužfiksuota | 1 ligoje |
| TMCO1transmembrane and coiled-coil domains 1 | Neužfiksuota | 1 ligoje |
| VANGL1VANGL planar cell polarity protein 1 | Neužfiksuota | 1 ligoje |
| VANGL2VANGL planar cell polarity protein 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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Iš kur tai žinoma
- 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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