Egenskap
Prominent swayback
Klinisk navn: Hyperlordosis
Abnormally increased curvature (anterior concavity) of the lumbar or cervical spine.
Sammendrag
- Også kalt
- Lordosis
- Kroppssystem
- Abnormality of the musculoskeletal system
ReferansegenomGRCh38hg38
Posisjoner på gen- og variantsidene følger dette valget i denne nettleseren.
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Få mitt Genome Test157 gener knyttet til Prominent swayback
Endringer i disse genene forårsaker sjeldne tilstander der Prominent swayback forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| CANT1calcium activated nucleotidase 1 | Alltid | I 1 tilstand |
| ECEL1endothelin converting enzyme like 1 | Alltid | I 1 tilstand |
| GNB2G protein subunit beta 2 | Alltid | I 1 tilstand |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Alltid | I 1 tilstand |
| GNPTGN-acetylglucosamine-1-phosphate transferase subunit gamma | Alltid | I 1 tilstand |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Alltid | I 1 tilstand |
| LBRlamin B receptor | Alltid | I 1 tilstand |
| MEGF10multiple EGF like domains 10 | Alltid | I 1 tilstand |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Alltid | I 1 tilstand |
| RAB33BRAB33B, member RAS oncogene family | Alltid | I 1 tilstand |
| RNU2-2RNA, U2 small nuclear 2 | Alltid | I 1 tilstand |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Alltid | I 2 tilstander |
| TAF4TATA-box binding protein associated factor 4 | Alltid | I 1 tilstand |
| DNMT3BDNA methyltransferase 3 beta | Svært ofte (80–99 %) | I 1 tilstand |
| DUX4double homeobox 4 | Svært ofte (80–99 %) | I 1 tilstand |
| DUX4L1double homeobox 4 like 1 (pseudogene) | Svært ofte (80–99 %) | I 1 tilstand |
| FRG1FSHD region gene 1 | Svært ofte (80–99 %) | I 1 tilstand |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Svært ofte (80–99 %) | I 1 tilstand |
| HNRNPA2B1heterogeneous nuclear ribonucleoprotein A2/B1 | Svært ofte (80–99 %) | I 1 tilstand |
| KIF1Akinesin family member 1A | Svært ofte (80–99 %) | I 1 tilstand |
| MMP13matrix metallopeptidase 13 | Svært ofte (80–99 %) | I 1 tilstand |
| OBSL1obscurin like cytoskeletal adaptor 1 | Svært ofte (80–99 %) | I 2 tilstander |
| RETREG1reticulophagy regulator 1 | Svært ofte (80–99 %) | I 1 tilstand |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Svært ofte (80–99 %) | I 1 tilstand |
| SCN9Asodium voltage-gated channel alpha subunit 9 | Svært ofte (80–99 %) | I 1 tilstand |
| SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1 | Svært ofte (80–99 %) | I 1 tilstand |
| VCPvalosin containing protein | Svært ofte (80–99 %) | I 1 tilstand |
| WNK1WNK lysine deficient protein kinase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| ACTA1actin alpha 1, skeletal muscle | Ofte (30–79 %) | I 5 tilstander |
| ARSKarylsulfatase family member K | Ofte (30–79 %) | I 1 tilstand |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Ofte (30–79 %) | I 1 tilstand |
| BICD2BICD cargo adaptor 2 | Ofte (30–79 %) | I 2 tilstander |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Ofte (30–79 %) | I 1 tilstand |
| CAPN3calpain 3 | Ofte (30–79 %) | I 2 tilstander |
| CCDC8coiled-coil domain containing 8 subunit of 3M complex | Ofte (30–79 %) | I 2 tilstander |
| CLIP2CAP-Gly domain containing linker protein 2 | Ofte (30–79 %) | I 1 tilstand |
| COLEC10collectin subfamily member 10 | Ofte (30–79 %) | I 1 tilstand |
| COLEC11collectin subfamily member 11 | Ofte (30–79 %) | I 1 tilstand |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| CUL7cullin 7 | Ofte (30–79 %) | I 2 tilstander |
Vis 117 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| DNA2DNA replication helicase/nuclease 2 | Ofte (30–79 %) | I 2 tilstander |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Ofte (30–79 %) | I 1 tilstand |
| EIF4Heukaryotic translation initiation factor 4H | Ofte (30–79 %) | I 1 tilstand |
| ELNelastin | Ofte (30–79 %) | I 1 tilstand |
| FGFR2fibroblast growth factor receptor 2 | Ofte (30–79 %) | I 1 tilstand |
| FGFR3fibroblast growth factor receptor 3 | Ofte (30–79 %) | I 2 tilstander |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Ofte (30–79 %) | I 1 tilstand |
| GTF2Igeneral transcription factor IIi | Ofte (30–79 %) | I 1 tilstand |
| GTF2IRD1GTF2I repeat domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| GTF2IRD2GTF2I repeat domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| HSPG2heparan sulfate proteoglycan 2 | Ofte (30–79 %) | I 1 tilstand |
| IHHIndian hedgehog signaling molecule | Ofte (30–79 %) | I 1 tilstand |
| KNSTRNkinetochore localized astrin (SPAG5) binding protein | Ofte (30–79 %) | I 1 tilstand |
| LIMK1LIM domain kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| LMNAlamin A/C | Ofte (30–79 %) | I 4 tilstander |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Ofte (30–79 %) | I 2 tilstander |
| MASP1MBL associated serine protease 1 | Ofte (30–79 %) | I 1 tilstand |
| METTL27methyltransferase like 27 | Ofte (30–79 %) | I 1 tilstand |
| MUSKmuscle associated receptor tyrosine kinase | Ofte (30–79 %) | I 1 tilstand |
| NCF1neutrophil cytosolic factor 1 | Ofte (30–79 %) | I 1 tilstand |
| NPR2natriuretic peptide receptor 2 | Ofte (30–79 %) | I 1 tilstand |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Ofte (30–79 %) | I 1 tilstand |
| PPM1Dprotein phosphatase, Mg2+/Mn2+ dependent 1D | Ofte (30–79 %) | I 1 tilstand |
| PUS1pseudouridine synthase 1 | Ofte (30–79 %) | I 1 tilstand |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| RFC2replication factor C subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| RSPRY1ring finger and SPRY domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| SELENONselenoprotein N | Ofte (30–79 %) | I 2 tilstander |
| SGCAsarcoglycan alpha | Ofte (30–79 %) | I 1 tilstand |
| SNUPNsnurportin 1 | Ofte (30–79 %) | I 1 tilstand |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| STX1Asyntaxin 1A | Ofte (30–79 %) | I 1 tilstand |
| TBL2transducin beta like 2 | Ofte (30–79 %) | I 1 tilstand |
| TBX6T-box transcription factor 6 | Ofte (30–79 %) | I 1 tilstand |
| TFE3transcription factor binding to IGHM enhancer 3 | Ofte (30–79 %) | I 1 tilstand |
| TMEM270transmembrane protein 270 | Ofte (30–79 %) | I 1 tilstand |
| TRAPPC11trafficking protein particle complex subunit 11 | Ofte (30–79 %) | I 2 tilstander |
| TRPS1transcriptional repressor GATA binding 1 | Ofte (30–79 %) | I 2 tilstander |
| TWIST1twist family bHLH transcription factor 1 | Ofte (30–79 %) | I 1 tilstand |
| VPS37DVPS37D subunit of ESCRT-I | Ofte (30–79 %) | I 1 tilstand |
| ADNPactivity dependent neuroprotector homeobox | Noen ganger (5–29 %) | I 1 tilstand |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| AMER1APC membrane recruitment protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Noen ganger (5–29 %) | I 1 tilstand |
| BCORBCL6 corepressor | Noen ganger (5–29 %) | I 1 tilstand |
| BCRBCR activator of RhoGEF and GTPase | Noen ganger (5–29 %) | I 1 tilstand |
| BIN1bridging integrator 1 | Noen ganger (5–29 %) | I 2 tilstander |
| CAVIN1caveolae associated protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CCN6cellular communication network factor 6 | Noen ganger (5–29 %) | I 1 tilstand |
| CFL2cofilin 2 | Noen ganger (5–29 %) | I 1 tilstand |
| COL12A1collagen type XII alpha 1 chain | Noen ganger (5–29 %) | I 1 tilstand |
| CRKLCRK like proto-oncogene, adaptor protein | Noen ganger (5–29 %) | I 1 tilstand |
| CTNNB1catenin beta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DDRGK1DDRGK domain containing 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DYSFdysferlin | Noen ganger (5–29 %) | I 1 tilstand |
| EMDemerin | Noen ganger (5–29 %) | I 1 tilstand |
| FEM1Bfem-1 homolog B | Noen ganger (5–29 %) | I 1 tilstand |
| FHL1four and a half LIM domains 1 | Noen ganger (5–29 %) | I 2 tilstander |
| H4C5H4 clustered histone 5 | Noen ganger (5–29 %) | I 1 tilstand |
| HACD13-hydroxyacyl-CoA dehydratase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| HNRNPH2heterogeneous nuclear ribonucleoprotein H2 | Noen ganger (5–29 %) | I 1 tilstand |
| ITGA7integrin subunit alpha 7 | Noen ganger (5–29 %) | I 1 tilstand |
| KDM6Blysine demethylase 6B | Noen ganger (5–29 %) | I 1 tilstand |
| KLHL41kelch like family member 41 | Noen ganger (5–29 %) | I 1 tilstand |
| LAMA2laminin subunit alpha 2 | Noen ganger (5–29 %) | I 1 tilstand |
| LMOD3leiomodin 3 | Noen ganger (5–29 %) | I 1 tilstand |
| MAPK1mitogen-activated protein kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MYL2myosin light chain 2 | Noen ganger (5–29 %) | I 1 tilstand |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| NEBnebulin | Noen ganger (5–29 %) | I 2 tilstander |
| NECTIN1nectin cell adhesion molecule 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NOTCH3notch receptor 3 | Noen ganger (5–29 %) | I 1 tilstand |
| PIK3C2Aphosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | Noen ganger (5–29 %) | I 1 tilstand |
| PLAAT3phospholipase A and acyltransferase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Noen ganger (5–29 %) | I 1 tilstand |
| RTN2reticulon 2 | Noen ganger (5–29 %) | I 1 tilstand |
| RYR1ryanodine receptor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SETBP1SET binding protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SETD5SET domain containing 5 | Noen ganger (5–29 %) | I 1 tilstand |
| SPEGstriated muscle enriched protein kinase | Noen ganger (5–29 %) | I 1 tilstand |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SYNE2spectrin repeat containing nuclear envelope protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TGFB1transforming growth factor beta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TMEM43transmembrane protein 43 | Noen ganger (5–29 %) | I 1 tilstand |
| TNNT1troponin T1, slow skeletal type | Noen ganger (5–29 %) | I 1 tilstand |
| TPM2tropomyosin 2 | Noen ganger (5–29 %) | I 2 tilstander |
| TPM3tropomyosin 3 | Noen ganger (5–29 %) | I 1 tilstand |
| TTNtitin | Noen ganger (5–29 %) | I 1 tilstand |
| CTSKcathepsin K | Sjelden (1–4%) | I 1 tilstand |
| NF1neurofibromin 1 | Sjelden (1–4%) | I 1 tilstand |
| COL1A2collagen type I alpha 2 chain | Ikke registrert | I 1 tilstand |
| COL2A1collagen type II alpha 1 chain | Ikke registrert | I 1 tilstand |
| COLQcollagen like tail subunit of asymmetric acetylcholinesterase | Ikke registrert | I 1 tilstand |
| DMDdystrophin | Ikke registrert | I 1 tilstand |
| DNM2dynamin 2 | Ikke registrert | I 1 tilstand |
| EIF2AK3eukaryotic translation initiation factor 2 alpha kinase 3 | Ikke registrert | I 1 tilstand |
| FKRPfukutin related protein | Ikke registrert | I 2 tilstander |
| FKTNfukutin | Ikke registrert | I 1 tilstand |
| FLNBfilamin B | Ikke registrert | I 1 tilstand |
| GALNSgalactosamine (N-acetyl)-6-sulfatase | Ikke registrert | I 1 tilstand |
| GLB1galactosidase beta 1 | Ikke registrert | I 1 tilstand |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Ikke registrert | I 1 tilstand |
| INPP5Kinositol polyphosphate-5-phosphatase K | Ikke registrert | I 1 tilstand |
| L1CAML1 cell adhesion molecule | Ikke registrert | I 1 tilstand |
| MTMR14myotubularin related protein 14 | Ikke registrert | I 1 tilstand |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Ikke registrert | I 1 tilstand |
| PLEKHG5pleckstrin homology and RhoGEF domain containing G5 | Ikke registrert | I 1 tilstand |
| POMT2protein O-mannosyltransferase 2 | Ikke registrert | I 1 tilstand |
| POP1POP1 ribonuclease P/MRP subunit | Ikke registrert | I 1 tilstand |
| RETret proto-oncogene | Ikke registrert | I 1 tilstand |
| SGCGsarcoglycan gamma | Ikke registrert | I 1 tilstand |
| SLC10A7solute carrier family 10 member 7 | Ikke registrert | I 1 tilstand |
| TFAP2Atranscription factor AP-2 alpha | Ikke registrert | I 1 tilstand |
| TOR1Atorsin family 1 member A | Ikke registrert | I 1 tilstand |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Ikke registrert | I 2 tilstander |
| ZC4H2zinc finger C4H2-type containing | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
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Slik er informasjonen samlet
- Human Phenotype Ontology, versjon 2026-09-01: egenskapen, navnene på den, definisjonen og genene som er knyttet til den. Les mer på hpo.jax.org.
- Datautgave 2026.10.16-c6eea6bf.
Én test. En livstid med svar.
Fra 449 $Gratis frakt · Resultater på 6–8 uker