Požymis
Short palm
Short palm.
Santrauka
- Taip pat vadinama
- Short hands, Short palms
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
Read the genes linked to Short palm, and the rest of your genome, with one test.
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Įsigyti savo Genome Test120 genų susiję su Short palm
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Short palm. 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 |
|---|---|---|
| ANKRD11ankyrin repeat domain 11 | Visada | 1 ligoje |
| B3GLCTbeta 3-glucosyltransferase | Visada | 1 ligoje |
| BRD4bromodomain containing 4 | Visada | 1 ligoje |
| CAMK2Gcalcium/calmodulin dependent protein kinase II gamma | Visada | 1 ligoje |
| DDR2discoidin domain receptor tyrosine kinase 2 | Visada | 1 ligoje |
| DYNC1H1dynein cytoplasmic 1 heavy chain 1 | Visada | 1 ligoje |
| ERI1exoribonuclease 1 | Visada | 1 ligoje |
| FBN1fibrillin 1 | Visada | 4 ligose |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Visada | 2 ligose |
| INPPL1inositol polyphosphate phosphatase like 1 | Visada | 1 ligoje |
| KDM6Blysine demethylase 6B | Visada | 1 ligoje |
| KLHL15kelch like family member 15 | Visada | 1 ligoje |
| MRPS28mitochondrial ribosomal protein S28 | Visada | 1 ligoje |
| PPP2R3Cprotein phosphatase 2 regulatory subunit B''gamma | Visada | 1 ligoje |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Visada | 1 ligoje |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Visada | 3 ligose |
| SMAD4SMAD family member 4 | Visada | 2 ligose |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Visada | 1 ligoje |
| ANTXR2ANTXR cell adhesion molecule 2 | Labai dažnai (80–99%) | 1 ligoje |
| BHLHA9basic helix-loop-helix family member a9 | Labai dažnai (80–99%) | 1 ligoje |
| COG4component of oligomeric golgi complex 4 | Labai dažnai (80–99%) | 1 ligoje |
| COL2A1collagen type II alpha 1 chain | Labai dažnai (80–99%) | 1 ligoje |
| CUL4Bcullin 4B | Labai dažnai (80–99%) | 1 ligoje |
| DVL1dishevelled segment polarity protein 1 | Labai dažnai (80–99%) | 2 ligose |
| DVL3dishevelled segment polarity protein 3 | Labai dažnai (80–99%) | 1 ligoje |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Labai dažnai (80–99%) | 1 ligoje |
| DYNC2I1dynein 2 intermediate chain 1 | Labai dažnai (80–99%) | 1 ligoje |
| DYNC2I2dynein 2 intermediate chain 2 | Labai dažnai (80–99%) | 1 ligoje |
| FGF9fibroblast growth factor 9 | Labai dažnai (80–99%) | 1 ligoje |
| FZD2frizzled class receptor 2 | Labai dažnai (80–99%) | 2 ligose |
| GDF5growth differentiation factor 5 | Labai dažnai (80–99%) | 1 ligoje |
| GDF6growth differentiation factor 6 | Labai dažnai (80–99%) | 1 ligoje |
| GPX4glutathione peroxidase 4 | Labai dažnai (80–99%) | 1 ligoje |
| HDAC6histone deacetylase 6 | Labai dažnai (80–99%) | 1 ligoje |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Labai dažnai (80–99%) | 1 ligoje |
| IFT80intraflagellar transport 80 | Labai dažnai (80–99%) | 1 ligoje |
| IHHIndian hedgehog signaling molecule | Labai dažnai (80–99%) | 3 ligose |
| KAT6Blysine acetyltransferase 6B | Labai dažnai (80–99%) | 1 ligoje |
| LMNAlamin A/C | Labai dažnai (80–99%) | 1 ligoje |
| LTBP3latent transforming growth factor beta binding protein 3 | Labai dažnai (80–99%) | 2 ligose |
Rodyti dar 80 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| MAGEL2MAGE family member L2 | Labai dažnai (80–99%) | 1 ligoje |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Labai dažnai (80–99%) | 1 ligoje |
| MEGF8multiple EGF like domains 8 | Labai dažnai (80–99%) | 1 ligoje |
| MKRN3makorin ring finger protein 3 | Labai dažnai (80–99%) | 1 ligoje |
| NOGnoggin | Labai dažnai (80–99%) | 1 ligoje |
| NPAP1nuclear pore associated protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| PTDSS1phosphatidylserine synthase 1 | Labai dažnai (80–99%) | 1 ligoje |
| PWAR1Prader Willi/Angelman region RNA 1 | Labai dažnai (80–99%) | 1 ligoje |
| PWRN1Prader-Willi region non-protein coding RNA 1 | Labai dažnai (80–99%) | 1 ligoje |
| RAB23RAB23, member RAS oncogene family | Labai dažnai (80–99%) | 1 ligoje |
| RNU4ATACRNA, U4atac small nuclear | Labai dažnai (80–99%) | 1 ligoje |
| ROR2ROR family WNT receptor 2 | Labai dažnai (80–99%) | 1 ligoje |
| SCUBE3signal peptide, CUB domain and EGF like domain containing 3 | Labai dažnai (80–99%) | 1 ligoje |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Labai dažnai (80–99%) | 1 ligoje |
| SNORD115-1small nucleolar RNA, C/D box 115-1 | Labai dažnai (80–99%) | 1 ligoje |
| SNORD116-1small nucleolar RNA, C/D box 116-1 | Labai dažnai (80–99%) | 1 ligoje |
| TRIP11thyroid hormone receptor interactor 11 | Labai dažnai (80–99%) | 2 ligose |
| WDR35WD repeat domain 35 | Labai dažnai (80–99%) | 1 ligoje |
| WNT5AWnt family member 5A | Labai dažnai (80–99%) | 2 ligose |
| ADAMTS2ADAM metallopeptidase with thrombospondin type 1 motif 2 | Dažnai (30–79%) | 1 ligoje |
| ADAMTSL2ADAMTS like 2 | Dažnai (30–79%) | 3 ligose |
| ATP7AATPase copper transporting alpha | Dažnai (30–79%) | 1 ligoje |
| CAMTA1calmodulin binding transcription activator 1 | Dažnai (30–79%) | 1 ligoje |
| FGFR1fibroblast growth factor receptor 1 | Dažnai (30–79%) | 2 ligose |
| FGFR2fibroblast growth factor receptor 2 | Dažnai (30–79%) | 1 ligoje |
| FGFR3fibroblast growth factor receptor 3 | Dažnai (30–79%) | 1 ligoje |
| FLNAfilamin A | Dažnai (30–79%) | 2 ligose |
| HDAC4histone deacetylase 4 | Dažnai (30–79%) | 1 ligoje |
| HNRNPRheterogeneous nuclear ribonucleoprotein R | Dažnai (30–79%) | 1 ligoje |
| IGF1Rinsulin like growth factor 1 receptor | Dažnai (30–79%) | 1 ligoje |
| KRASKRas proto-oncogene, GTPase | Dažnai (30–79%) | 1 ligoje |
| MBD5methyl-CpG binding domain protein 5 | Dažnai (30–79%) | 2 ligose |
| MSL3MSL complex subunit 3 | Dažnai (30–79%) | 1 ligoje |
| PDGFRBplatelet derived growth factor receptor beta | Dažnai (30–79%) | 1 ligoje |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Dažnai (30–79%) | 1 ligoje |
| PTH1Rparathyroid hormone 1 receptor | Dažnai (30–79%) | 1 ligoje |
| RAI1retinoic acid induced 1 | Dažnai (30–79%) | 1 ligoje |
| RSPRY1ring finger and SPRY domain containing 1 | Dažnai (30–79%) | 1 ligoje |
| SH3PXD2BSH3 and PX domains 2B | Dažnai (30–79%) | 1 ligoje |
| SIL1SIL1 nucleotide exchange factor | Dažnai (30–79%) | 1 ligoje |
| SNIP1Smad nuclear interacting protein 1 | Dažnai (30–79%) | 1 ligoje |
| YY1AP1YY1 associated protein 1 | Dažnai (30–79%) | 1 ligoje |
| BCRBCR activator of RhoGEF and GTPase | Kartais (5–29%) | 1 ligoje |
| CHSY1chondroitin sulfate synthase 1 | Kartais (5–29%) | 1 ligoje |
| CRKLCRK like proto-oncogene, adaptor protein | Kartais (5–29%) | 1 ligoje |
| FBXO11F-box protein 11 | Kartais (5–29%) | 1 ligoje |
| GPC3glypican 3 | Kartais (5–29%) | 1 ligoje |
| KDM4Blysine demethylase 4B | Kartais (5–29%) | 1 ligoje |
| KDM5Clysine demethylase 5C | Kartais (5–29%) | 1 ligoje |
| LEF1lymphoid enhancer binding factor 1 | Kartais (5–29%) | 1 ligoje |
| MAPK1mitogen-activated protein kinase 1 | Kartais (5–29%) | 1 ligoje |
| MAPRE2microtubule associated protein RP/EB family member 2 | Kartais (5–29%) | 1 ligoje |
| NAV3neuron navigator 3 | Kartais (5–29%) | 1 ligoje |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Kartais (5–29%) | 1 ligoje |
| PUF60poly(U) binding splicing factor 60 | Kartais (5–29%) | 1 ligoje |
| RBPJrecombination signal binding protein for immunoglobulin kappa J region | Kartais (5–29%) | 1 ligoje |
| TCF4transcription factor 4 | Kartais (5–29%) | 1 ligoje |
| TMEM53transmembrane protein 53 | Kartais (5–29%) | 1 ligoje |
| TONSLtonsoku like, DNA repair protein | Kartais (5–29%) | 1 ligoje |
| TRIOtrio Rho guanine nucleotide exchange factor | Kartais (5–29%) | 1 ligoje |
| WACWW domain containing adaptor with coiled-coil | Kartais (5–29%) | 1 ligoje |
| BGNbiglycan | Neužfiksuota | 1 ligoje |
| CCBE1collagen and calcium binding EGF domains 1 | Neužfiksuota | 1 ligoje |
| COL11A1collagen type XI alpha 1 chain | Neužfiksuota | 1 ligoje |
| COL11A2collagen type XI alpha 2 chain | Neužfiksuota | 1 ligoje |
| COL9A2collagen type IX alpha 2 chain | Neužfiksuota | 1 ligoje |
| CRLF1cytokine receptor like factor 1 | Neužfiksuota | 1 ligoje |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Neužfiksuota | 1 ligoje |
| EVCEvC ciliary complex subunit 1 | Neužfiksuota | 1 ligoje |
| EVC2EvC ciliary complex subunit 2 | Neužfiksuota | 1 ligoje |
| KCNJ2potassium inwardly rectifying channel subfamily J member 2 | Neužfiksuota | 1 ligoje |
| NEK1NIMA related kinase 1 | Neužfiksuota | 1 ligoje |
| ORC1origin recognition complex subunit 1 | Neužfiksuota | 1 ligoje |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Neužfiksuota | 1 ligoje |
| RECQL4RecQ like helicase 4 | Neužfiksuota | 1 ligoje |
| SIN3ASIN3 transcription regulator family member A | Neužfiksuota | 1 ligoje |
| TBCEtubulin folding cofactor E | Neužfiksuota | 2 ligose |
| TBL1XR1TBL1X/Y related 1 | Neužfiksuota | 1 ligoje |
| TRPS1transcriptional repressor GATA binding 1 | Neužfiksuota | 1 ligoje |
| WDR81WD repeat domain 81 | 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.
Platesni požymiai
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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