Požymis
Prominent swayback
Klinikinis pavadinimas: Hyperlordosis
Abnormally increased curvature (anterior concavity) of the lumbar or cervical spine.
Santrauka
- Taip pat vadinama
- Lordosis
- Kūno sistema
- Abnormality of the musculoskeletal system
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
Read the genes linked to Prominent swayback, and the rest of your genome, with one test.
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Įsigyti savo Genome Test157 genų susiję su Prominent swayback
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Prominent swayback. 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 |
|---|---|---|
| CANT1calcium activated nucleotidase 1 | Visada | 1 ligoje |
| ECEL1endothelin converting enzyme like 1 | Visada | 1 ligoje |
| GNB2G protein subunit beta 2 | Visada | 1 ligoje |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Visada | 1 ligoje |
| GNPTGN-acetylglucosamine-1-phosphate transferase subunit gamma | Visada | 1 ligoje |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Visada | 1 ligoje |
| LBRlamin B receptor | Visada | 1 ligoje |
| MEGF10multiple EGF like domains 10 | Visada | 1 ligoje |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Visada | 1 ligoje |
| RAB33BRAB33B, member RAS oncogene family | Visada | 1 ligoje |
| RNU2-2RNA, U2 small nuclear 2 | Visada | 1 ligoje |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Visada | 2 ligose |
| TAF4TATA-box binding protein associated factor 4 | Visada | 1 ligoje |
| DNMT3BDNA methyltransferase 3 beta | Labai dažnai (80–99%) | 1 ligoje |
| DUX4double homeobox 4 | Labai dažnai (80–99%) | 1 ligoje |
| DUX4L1double homeobox 4 like 1 (pseudogene) | Labai dažnai (80–99%) | 1 ligoje |
| FRG1FSHD region gene 1 | Labai dažnai (80–99%) | 1 ligoje |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Labai dažnai (80–99%) | 1 ligoje |
| HNRNPA2B1heterogeneous nuclear ribonucleoprotein A2/B1 | Labai dažnai (80–99%) | 1 ligoje |
| KIF1Akinesin family member 1A | Labai dažnai (80–99%) | 1 ligoje |
| MMP13matrix metallopeptidase 13 | Labai dažnai (80–99%) | 1 ligoje |
| OBSL1obscurin like cytoskeletal adaptor 1 | Labai dažnai (80–99%) | 2 ligose |
| RETREG1reticulophagy regulator 1 | Labai dažnai (80–99%) | 1 ligoje |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Labai dažnai (80–99%) | 1 ligoje |
| SCN9Asodium voltage-gated channel alpha subunit 9 | Labai dažnai (80–99%) | 1 ligoje |
| SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1 | Labai dažnai (80–99%) | 1 ligoje |
| VCPvalosin containing protein | Labai dažnai (80–99%) | 1 ligoje |
| WNK1WNK lysine deficient protein kinase 1 | Labai dažnai (80–99%) | 1 ligoje |
| ACTA1actin alpha 1, skeletal muscle | Dažnai (30–79%) | 5 ligose |
| ARSKarylsulfatase family member K | Dažnai (30–79%) | 1 ligoje |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Dažnai (30–79%) | 1 ligoje |
| BICD2BICD cargo adaptor 2 | Dažnai (30–79%) | 2 ligose |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Dažnai (30–79%) | 1 ligoje |
| CAPN3calpain 3 | Dažnai (30–79%) | 2 ligose |
| CCDC8coiled-coil domain containing 8 subunit of 3M complex | Dažnai (30–79%) | 2 ligose |
| CLIP2CAP-Gly domain containing linker protein 2 | Dažnai (30–79%) | 1 ligoje |
| COLEC10collectin subfamily member 10 | Dažnai (30–79%) | 1 ligoje |
| COLEC11collectin subfamily member 11 | Dažnai (30–79%) | 1 ligoje |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Dažnai (30–79%) | 1 ligoje |
| CUL7cullin 7 | Dažnai (30–79%) | 2 ligose |
Rodyti dar 117 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| DNA2DNA replication helicase/nuclease 2 | Dažnai (30–79%) | 2 ligose |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Dažnai (30–79%) | 1 ligoje |
| EIF4Heukaryotic translation initiation factor 4H | Dažnai (30–79%) | 1 ligoje |
| ELNelastin | Dažnai (30–79%) | 1 ligoje |
| FGFR2fibroblast growth factor receptor 2 | Dažnai (30–79%) | 1 ligoje |
| FGFR3fibroblast growth factor receptor 3 | Dažnai (30–79%) | 2 ligose |
| 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 |
| HSPG2heparan sulfate proteoglycan 2 | Dažnai (30–79%) | 1 ligoje |
| IHHIndian hedgehog signaling molecule | Dažnai (30–79%) | 1 ligoje |
| KNSTRNkinetochore localized astrin (SPAG5) binding protein | Dažnai (30–79%) | 1 ligoje |
| LIMK1LIM domain kinase 1 | Dažnai (30–79%) | 1 ligoje |
| LMNAlamin A/C | Dažnai (30–79%) | 4 ligose |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Dažnai (30–79%) | 2 ligose |
| MASP1MBL associated serine protease 1 | Dažnai (30–79%) | 1 ligoje |
| METTL27methyltransferase like 27 | Dažnai (30–79%) | 1 ligoje |
| MUSKmuscle associated receptor tyrosine kinase | Dažnai (30–79%) | 1 ligoje |
| NCF1neutrophil cytosolic factor 1 | Dažnai (30–79%) | 1 ligoje |
| NPR2natriuretic peptide receptor 2 | Dažnai (30–79%) | 1 ligoje |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Dažnai (30–79%) | 1 ligoje |
| PPM1Dprotein phosphatase, Mg2+/Mn2+ dependent 1D | Dažnai (30–79%) | 1 ligoje |
| PUS1pseudouridine synthase 1 | Dažnai (30–79%) | 1 ligoje |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Dažnai (30–79%) | 1 ligoje |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Dažnai (30–79%) | 1 ligoje |
| RFC2replication factor C subunit 2 | Dažnai (30–79%) | 1 ligoje |
| RSPRY1ring finger and SPRY domain containing 1 | Dažnai (30–79%) | 1 ligoje |
| SELENONselenoprotein N | Dažnai (30–79%) | 2 ligose |
| SGCAsarcoglycan alpha | Dažnai (30–79%) | 1 ligoje |
| SNUPNsnurportin 1 | Dažnai (30–79%) | 1 ligoje |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Dažnai (30–79%) | 1 ligoje |
| STX1Asyntaxin 1A | Dažnai (30–79%) | 1 ligoje |
| TBL2transducin beta like 2 | Dažnai (30–79%) | 1 ligoje |
| TBX6T-box transcription factor 6 | Dažnai (30–79%) | 1 ligoje |
| TFE3transcription factor binding to IGHM enhancer 3 | Dažnai (30–79%) | 1 ligoje |
| TMEM270transmembrane protein 270 | Dažnai (30–79%) | 1 ligoje |
| TRAPPC11trafficking protein particle complex subunit 11 | Dažnai (30–79%) | 2 ligose |
| TRPS1transcriptional repressor GATA binding 1 | Dažnai (30–79%) | 2 ligose |
| TWIST1twist family bHLH transcription factor 1 | Dažnai (30–79%) | 1 ligoje |
| VPS37DVPS37D subunit of ESCRT-I | Dažnai (30–79%) | 1 ligoje |
| ADNPactivity dependent neuroprotector homeobox | Kartais (5–29%) | 1 ligoje |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Kartais (5–29%) | 1 ligoje |
| AMER1APC membrane recruitment protein 1 | Kartais (5–29%) | 1 ligoje |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Kartais (5–29%) | 1 ligoje |
| BCORBCL6 corepressor | Kartais (5–29%) | 1 ligoje |
| BCRBCR activator of RhoGEF and GTPase | Kartais (5–29%) | 1 ligoje |
| BIN1bridging integrator 1 | Kartais (5–29%) | 2 ligose |
| CAVIN1caveolae associated protein 1 | Kartais (5–29%) | 1 ligoje |
| CCN6cellular communication network factor 6 | Kartais (5–29%) | 1 ligoje |
| CFL2cofilin 2 | Kartais (5–29%) | 1 ligoje |
| COL12A1collagen type XII alpha 1 chain | Kartais (5–29%) | 1 ligoje |
| CRKLCRK like proto-oncogene, adaptor protein | Kartais (5–29%) | 1 ligoje |
| CTNNB1catenin beta 1 | Kartais (5–29%) | 1 ligoje |
| DDRGK1DDRGK domain containing 1 | Kartais (5–29%) | 1 ligoje |
| DYSFdysferlin | Kartais (5–29%) | 1 ligoje |
| EMDemerin | Kartais (5–29%) | 1 ligoje |
| FEM1Bfem-1 homolog B | Kartais (5–29%) | 1 ligoje |
| FHL1four and a half LIM domains 1 | Kartais (5–29%) | 2 ligose |
| H4C5H4 clustered histone 5 | Kartais (5–29%) | 1 ligoje |
| HACD13-hydroxyacyl-CoA dehydratase 1 | Kartais (5–29%) | 1 ligoje |
| HNRNPH2heterogeneous nuclear ribonucleoprotein H2 | Kartais (5–29%) | 1 ligoje |
| ITGA7integrin subunit alpha 7 | Kartais (5–29%) | 1 ligoje |
| KDM6Blysine demethylase 6B | Kartais (5–29%) | 1 ligoje |
| KLHL41kelch like family member 41 | Kartais (5–29%) | 1 ligoje |
| LAMA2laminin subunit alpha 2 | Kartais (5–29%) | 1 ligoje |
| LMOD3leiomodin 3 | Kartais (5–29%) | 1 ligoje |
| MAPK1mitogen-activated protein kinase 1 | Kartais (5–29%) | 1 ligoje |
| MYL2myosin light chain 2 | Kartais (5–29%) | 1 ligoje |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Kartais (5–29%) | 1 ligoje |
| NEBnebulin | Kartais (5–29%) | 2 ligose |
| NECTIN1nectin cell adhesion molecule 1 | Kartais (5–29%) | 1 ligoje |
| NOTCH3notch receptor 3 | Kartais (5–29%) | 1 ligoje |
| PIK3C2Aphosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | Kartais (5–29%) | 1 ligoje |
| PLAAT3phospholipase A and acyltransferase 3 | Kartais (5–29%) | 1 ligoje |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Kartais (5–29%) | 1 ligoje |
| RTN2reticulon 2 | Kartais (5–29%) | 1 ligoje |
| RYR1ryanodine receptor 1 | Kartais (5–29%) | 1 ligoje |
| SETBP1SET binding protein 1 | Kartais (5–29%) | 1 ligoje |
| SETD5SET domain containing 5 | Kartais (5–29%) | 1 ligoje |
| SPEGstriated muscle enriched protein kinase | Kartais (5–29%) | 1 ligoje |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Kartais (5–29%) | 1 ligoje |
| SYNE2spectrin repeat containing nuclear envelope protein 2 | Kartais (5–29%) | 1 ligoje |
| TGFB1transforming growth factor beta 1 | Kartais (5–29%) | 1 ligoje |
| TMEM43transmembrane protein 43 | Kartais (5–29%) | 1 ligoje |
| TNNT1troponin T1, slow skeletal type | Kartais (5–29%) | 1 ligoje |
| TPM2tropomyosin 2 | Kartais (5–29%) | 2 ligose |
| TPM3tropomyosin 3 | Kartais (5–29%) | 1 ligoje |
| TTNtitin | Kartais (5–29%) | 1 ligoje |
| CTSKcathepsin K | Retai (1–4 %) | 1 ligoje |
| NF1neurofibromin 1 | Retai (1–4 %) | 1 ligoje |
| COL1A2collagen type I alpha 2 chain | Neužfiksuota | 1 ligoje |
| COL2A1collagen type II alpha 1 chain | Neužfiksuota | 1 ligoje |
| COLQcollagen like tail subunit of asymmetric acetylcholinesterase | Neužfiksuota | 1 ligoje |
| DMDdystrophin | Neužfiksuota | 1 ligoje |
| DNM2dynamin 2 | Neužfiksuota | 1 ligoje |
| EIF2AK3eukaryotic translation initiation factor 2 alpha kinase 3 | Neužfiksuota | 1 ligoje |
| FKRPfukutin related protein | Neužfiksuota | 2 ligose |
| FKTNfukutin | Neužfiksuota | 1 ligoje |
| FLNBfilamin B | Neužfiksuota | 1 ligoje |
| GALNSgalactosamine (N-acetyl)-6-sulfatase | Neužfiksuota | 1 ligoje |
| GLB1galactosidase beta 1 | Neužfiksuota | 1 ligoje |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Neužfiksuota | 1 ligoje |
| INPP5Kinositol polyphosphate-5-phosphatase K | Neužfiksuota | 1 ligoje |
| L1CAML1 cell adhesion molecule | Neužfiksuota | 1 ligoje |
| MTMR14myotubularin related protein 14 | Neužfiksuota | 1 ligoje |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Neužfiksuota | 1 ligoje |
| PLEKHG5pleckstrin homology and RhoGEF domain containing G5 | Neužfiksuota | 1 ligoje |
| POMT2protein O-mannosyltransferase 2 | Neužfiksuota | 1 ligoje |
| POP1POP1 ribonuclease P/MRP subunit | Neužfiksuota | 1 ligoje |
| RETret proto-oncogene | Neužfiksuota | 1 ligoje |
| SGCGsarcoglycan gamma | Neužfiksuota | 1 ligoje |
| SLC10A7solute carrier family 10 member 7 | Neužfiksuota | 1 ligoje |
| TFAP2Atranscription factor AP-2 alpha | Neužfiksuota | 1 ligoje |
| TOR1Atorsin family 1 member A | Neužfiksuota | 1 ligoje |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Neužfiksuota | 2 ligose |
| ZC4H2zinc finger C4H2-type containing | 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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