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Tunnus
Short palm
Short palm.
Kokkuvõte
- Teised nimetused
- Short hands, Short palms
Short palmHP:0004279
Kellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiAlustaalates 449 $
Read the genes linked to Short palm, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test120 geeni on seotud tunnusega Short palm
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Short palm. 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 |
|---|---|---|
| ANKRD11ankyrin repeat domain 11 | Alati | Esineb 1 haiguses |
| B3GLCTbeta 3-glucosyltransferase | Alati | Esineb 1 haiguses |
| BRD4bromodomain containing 4 | Alati | Esineb 1 haiguses |
| CAMK2Gcalcium/calmodulin dependent protein kinase II gamma | Alati | Esineb 1 haiguses |
| DDR2discoidin domain receptor tyrosine kinase 2 | Alati | Esineb 1 haiguses |
| DYNC1H1dynein cytoplasmic 1 heavy chain 1 | Alati | Esineb 1 haiguses |
| ERI1exoribonuclease 1 | Alati | Esineb 1 haiguses |
| FBN1fibrillin 1 | Alati | Esineb 4 haiguses |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Alati | Esineb 2 haiguses |
| INPPL1inositol polyphosphate phosphatase like 1 | Alati | Esineb 1 haiguses |
| KDM6Blysine demethylase 6B | Alati | Esineb 1 haiguses |
| KLHL15kelch like family member 15 | Alati | Esineb 1 haiguses |
| MRPS28mitochondrial ribosomal protein S28 | Alati | Esineb 1 haiguses |
| PPP2R3Cprotein phosphatase 2 regulatory subunit B''gamma | Alati | Esineb 1 haiguses |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Alati | Esineb 1 haiguses |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Alati | Esineb 3 haiguses |
| SMAD4SMAD family member 4 | Alati | Esineb 2 haiguses |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Alati | Esineb 1 haiguses |
| ANTXR2ANTXR cell adhesion molecule 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| BHLHA9basic helix-loop-helix family member a9 | Väga sageli (80–99%) | Esineb 1 haiguses |
| COG4component of oligomeric golgi complex 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| COL2A1collagen type II alpha 1 chain | Väga sageli (80–99%) | Esineb 1 haiguses |
| CUL4Bcullin 4B | Väga sageli (80–99%) | Esineb 1 haiguses |
| DVL1dishevelled segment polarity protein 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| DVL3dishevelled segment polarity protein 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| DYNC2I1dynein 2 intermediate chain 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| DYNC2I2dynein 2 intermediate chain 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| FGF9fibroblast growth factor 9 | Väga sageli (80–99%) | Esineb 1 haiguses |
| FZD2frizzled class receptor 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| GDF5growth differentiation factor 5 | Väga sageli (80–99%) | Esineb 1 haiguses |
| GDF6growth differentiation factor 6 | Väga sageli (80–99%) | Esineb 1 haiguses |
| GPX4glutathione peroxidase 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| HDAC6histone deacetylase 6 | Väga sageli (80–99%) | Esineb 1 haiguses |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| IFT80intraflagellar transport 80 | Väga sageli (80–99%) | Esineb 1 haiguses |
| IHHIndian hedgehog signaling molecule | Väga sageli (80–99%) | Esineb 3 haiguses |
| KAT6Blysine acetyltransferase 6B | Väga sageli (80–99%) | Esineb 1 haiguses |
| LMNAlamin A/C | Väga sageli (80–99%) | Esineb 1 haiguses |
| LTBP3latent transforming growth factor beta binding protein 3 | Väga sageli (80–99%) | Esineb 2 haiguses |
Näita veel 80 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| MAGEL2MAGE family member L2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MEGF8multiple EGF like domains 8 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MKRN3makorin ring finger protein 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NOGnoggin | Väga sageli (80–99%) | Esineb 1 haiguses |
| NPAP1nuclear pore associated protein 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PTDSS1phosphatidylserine synthase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PWAR1Prader Willi/Angelman region RNA 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PWRN1Prader-Willi region non-protein coding RNA 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RAB23RAB23, member RAS oncogene family | Väga sageli (80–99%) | Esineb 1 haiguses |
| RNU4ATACRNA, U4atac small nuclear | Väga sageli (80–99%) | Esineb 1 haiguses |
| ROR2ROR family WNT receptor 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SCUBE3signal peptide, CUB domain and EGF like domain containing 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SNORD115-1small nucleolar RNA, C/D box 115-1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SNORD116-1small nucleolar RNA, C/D box 116-1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TRIP11thyroid hormone receptor interactor 11 | Väga sageli (80–99%) | Esineb 2 haiguses |
| WDR35WD repeat domain 35 | Väga sageli (80–99%) | Esineb 1 haiguses |
| WNT5AWnt family member 5A | Väga sageli (80–99%) | Esineb 2 haiguses |
| ADAMTS2ADAM metallopeptidase with thrombospondin type 1 motif 2 | Sageli (30–79%) | Esineb 1 haiguses |
| ADAMTSL2ADAMTS like 2 | Sageli (30–79%) | Esineb 3 haiguses |
| ATP7AATPase copper transporting alpha | Sageli (30–79%) | Esineb 1 haiguses |
| CAMTA1calmodulin binding transcription activator 1 | Sageli (30–79%) | Esineb 1 haiguses |
| FGFR1fibroblast growth factor receptor 1 | Sageli (30–79%) | Esineb 2 haiguses |
| FGFR2fibroblast growth factor receptor 2 | Sageli (30–79%) | Esineb 1 haiguses |
| FGFR3fibroblast growth factor receptor 3 | Sageli (30–79%) | Esineb 1 haiguses |
| FLNAfilamin A | Sageli (30–79%) | Esineb 2 haiguses |
| HDAC4histone deacetylase 4 | Sageli (30–79%) | Esineb 1 haiguses |
| HNRNPRheterogeneous nuclear ribonucleoprotein R | Sageli (30–79%) | Esineb 1 haiguses |
| IGF1Rinsulin like growth factor 1 receptor | Sageli (30–79%) | Esineb 1 haiguses |
| KRASKRas proto-oncogene, GTPase | Sageli (30–79%) | Esineb 1 haiguses |
| MBD5methyl-CpG binding domain protein 5 | Sageli (30–79%) | Esineb 2 haiguses |
| MSL3MSL complex subunit 3 | Sageli (30–79%) | Esineb 1 haiguses |
| PDGFRBplatelet derived growth factor receptor beta | Sageli (30–79%) | Esineb 1 haiguses |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Sageli (30–79%) | Esineb 1 haiguses |
| PTH1Rparathyroid hormone 1 receptor | Sageli (30–79%) | Esineb 1 haiguses |
| RAI1retinoic acid induced 1 | Sageli (30–79%) | Esineb 1 haiguses |
| RSPRY1ring finger and SPRY domain containing 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SH3PXD2BSH3 and PX domains 2B | Sageli (30–79%) | Esineb 1 haiguses |
| SIL1SIL1 nucleotide exchange factor | Sageli (30–79%) | Esineb 1 haiguses |
| SNIP1Smad nuclear interacting protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| YY1AP1YY1 associated protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| BCRBCR activator of RhoGEF and GTPase | Mõnikord (5–29%) | Esineb 1 haiguses |
| CHSY1chondroitin sulfate synthase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CRKLCRK like proto-oncogene, adaptor protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| FBXO11F-box protein 11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GPC3glypican 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KDM4Blysine demethylase 4B | Mõnikord (5–29%) | Esineb 1 haiguses |
| KDM5Clysine demethylase 5C | Mõnikord (5–29%) | Esineb 1 haiguses |
| LEF1lymphoid enhancer binding factor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MAPK1mitogen-activated protein kinase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MAPRE2microtubule associated protein RP/EB family member 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NAV3neuron navigator 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PUF60poly(U) binding splicing factor 60 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RBPJrecombination signal binding protein for immunoglobulin kappa J region | Mõnikord (5–29%) | Esineb 1 haiguses |
| TCF4transcription factor 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TMEM53transmembrane protein 53 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TONSLtonsoku like, DNA repair protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRIOtrio Rho guanine nucleotide exchange factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| WACWW domain containing adaptor with coiled-coil | Mõnikord (5–29%) | Esineb 1 haiguses |
| BGNbiglycan | Pole registreeritud | Esineb 1 haiguses |
| CCBE1collagen and calcium binding EGF domains 1 | Pole registreeritud | Esineb 1 haiguses |
| COL11A1collagen type XI alpha 1 chain | Pole registreeritud | Esineb 1 haiguses |
| COL11A2collagen type XI alpha 2 chain | Pole registreeritud | Esineb 1 haiguses |
| COL9A2collagen type IX alpha 2 chain | Pole registreeritud | Esineb 1 haiguses |
| CRLF1cytokine receptor like factor 1 | Pole registreeritud | Esineb 1 haiguses |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Pole registreeritud | Esineb 1 haiguses |
| EVCEvC ciliary complex subunit 1 | Pole registreeritud | Esineb 1 haiguses |
| EVC2EvC ciliary complex subunit 2 | Pole registreeritud | Esineb 1 haiguses |
| KCNJ2potassium inwardly rectifying channel subfamily J member 2 | Pole registreeritud | Esineb 1 haiguses |
| NEK1NIMA related kinase 1 | Pole registreeritud | Esineb 1 haiguses |
| ORC1origin recognition complex subunit 1 | Pole registreeritud | Esineb 1 haiguses |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Pole registreeritud | Esineb 1 haiguses |
| RECQL4RecQ like helicase 4 | Pole registreeritud | Esineb 1 haiguses |
| SIN3ASIN3 transcription regulator family member A | Pole registreeritud | Esineb 1 haiguses |
| TBCEtubulin folding cofactor E | Pole registreeritud | Esineb 2 haiguses |
| TBL1XR1TBL1X/Y related 1 | Pole registreeritud | Esineb 1 haiguses |
| TRPS1transcriptional repressor GATA binding 1 | Pole registreeritud | Esineb 1 haiguses |
| WDR81WD repeat domain 81 | 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.
Kellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiAlustaalates 449 $
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast