Tunnus
Short foot
A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective).
Kokkuvõte
- Teised nimetused
- Short feet, Small feet, Hypoplastic feet
Selle lehe andmed
Lehe aadressile saab lisada .json või päringusse application/json, et lugeda seda JSON-vormingus.
library(jsonlite)
url <- "https://dantelabs.com/traits/short-foot.json"
page <- fromJSON(url)
page$trait$nameLugege välja geenid, mis on seotud Short foot-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test158 geeni on seotud tunnusega Short foot
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Short foot. 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 |
|---|---|---|
| ARID2AT-rich interaction domain 2 | Alati | Esineb 1 haiguses |
| CAMK2Gcalcium/calmodulin dependent protein kinase II gamma | Alati | Esineb 1 haiguses |
| CCDC47coiled-coil domain containing 47 | Alati | Esineb 1 haiguses |
| CENPEcentromere protein E | Alati | Esineb 1 haiguses |
| DYNC1H1dynein cytoplasmic 1 heavy chain 1 | Alati | Esineb 1 haiguses |
| ERI1exoribonuclease 1 | Alati | Esineb 1 haiguses |
| FBN1fibrillin 1 | Alati | Esineb 3 haiguses |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Alati | Esineb 2 haiguses |
| HOXA13homeobox A13 | Alati | Esineb 1 haiguses |
| INPPL1inositol polyphosphate phosphatase like 1 | Alati | Esineb 1 haiguses |
| KDM5Clysine demethylase 5C | Alati | Esineb 1 haiguses |
| KDM6Blysine demethylase 6B | Alati | Esineb 1 haiguses |
| KIF5Ckinesin family member 5C | Alati | Esineb 1 haiguses |
| LRRC7leucine rich repeat containing 7 | Alati | Esineb 1 haiguses |
| MIR140microRNA 140 | Alati | Esineb 1 haiguses |
| NGLY1N-glycanase 1 | Alati | Esineb 1 haiguses |
| NIPBLNIPBL cohesin loading factor | Alati | Esineb 2 haiguses |
| POC1APOC1 centriolar protein A | Alati | Esineb 1 haiguses |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Alati | Esineb 1 haiguses |
| SLC35C1solute carrier family 35 member C1 | Alati | Esineb 1 haiguses |
| SMAD4SMAD family member 4 | Alati | Esineb 1 haiguses |
| SMC1Astructural maintenance of chromosomes 1A | Alati | Esineb 4 haiguses |
| SPARTspartin | Alati | Esineb 1 haiguses |
| UBE2Aubiquitin conjugating enzyme E2 A | Alati | Esineb 2 haiguses |
| WDR19WD repeat domain 19 | Alati | Esineb 2 haiguses |
| B3GLCTbeta 3-glucosyltransferase | Väga sageli (80–99%) | Esineb 2 haiguses |
| BMPR1Bbone morphogenetic protein receptor type 1B | Väga sageli (80–99%) | Esineb 3 haiguses |
| BRD4bromodomain containing 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CASZ1castor zinc finger 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| COL2A1collagen type II alpha 1 chain | Väga sageli (80–99%) | Esineb 2 haiguses |
| DLK1delta like non-canonical Notch ligand 1 | Väga sageli (80–99%) | Esineb 3 haiguses |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| DYNC2I1dynein 2 intermediate chain 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| DYNC2I2dynein 2 intermediate chain 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| FMR1fragile X messenger ribonucleoprotein 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Väga sageli (80–99%) | Esineb 1 haiguses |
| GDF5growth differentiation factor 5 | Väga sageli (80–99%) | Esineb 5 haiguses |
| GPC3glypican 3 | Väga sageli (80–99%) | Esineb 2 haiguses |
| GPC4glypican 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
Näita veel 118 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| HDAC6histone deacetylase 6 | Väga sageli (80–99%) | Esineb 1 haiguses |
| HDAC8histone deacetylase 8 | Väga sageli (80–99%) | Esineb 3 haiguses |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| HSPG2heparan sulfate proteoglycan 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| IFT80intraflagellar transport 80 | Väga sageli (80–99%) | Esineb 3 haiguses |
| IHHIndian hedgehog signaling molecule | Väga sageli (80–99%) | Esineb 1 haiguses |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| LAS1LLAS1 like ribosome biogenesis factor | Väga sageli (80–99%) | Esineb 2 haiguses |
| LUZP1leucine zipper protein 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MAGEL2MAGE family member L2 | Väga sageli (80–99%) | Esineb 7 haiguses |
| MAU2MAU2 sister chromatid cohesion factor | Väga sageli (80–99%) | Esineb 2 haiguses |
| MEG3maternally expressed 3 | Väga sageli (80–99%) | Esineb 3 haiguses |
| MKRN3makorin ring finger protein 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MMP23Bmatrix metallopeptidase 23B | Väga sageli (80–99%) | Esineb 1 haiguses |
| NOGnoggin | Väga sageli (80–99%) | Esineb 2 haiguses |
| NPAP1nuclear pore associated protein 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PDPNpodoplanin | Väga sageli (80–99%) | Esineb 1 haiguses |
| PPM1Dprotein phosphatase, Mg2+/Mn2+ dependent 1D | Väga sageli (80–99%) | Esineb 1 haiguses |
| PRDM16PR/SET domain 16 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PRKCZprotein kinase C zeta | 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 |
| RAD21RAD21 cohesin complex component | Väga sageli (80–99%) | Esineb 1 haiguses |
| REREarginine-glutamic acid dipeptide repeats | Väga sageli (80–99%) | Esineb 1 haiguses |
| RTL1retrotransposon Gag like 1 | Väga sageli (80–99%) | Esineb 3 haiguses |
| SHOXSHOX homeobox | Väga sageli (80–99%) | Esineb 1 haiguses |
| SKISKI proto-oncogene | Väga sageli (80–99%) | Esineb 1 haiguses |
| SLC26A2solute carrier family 26 member 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SMC3structural maintenance of chromosomes 3 | Väga sageli (80–99%) | Esineb 2 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 |
| SPENspen family transcriptional repressor | Väga sageli (80–99%) | Esineb 1 haiguses |
| TBCEtubulin folding cofactor E | Väga sageli (80–99%) | Esineb 4 haiguses |
| UBE4Bubiquitination factor E4B | Väga sageli (80–99%) | Esineb 1 haiguses |
| WDR35WD repeat domain 35 | Väga sageli (80–99%) | Esineb 1 haiguses |
| WNT7AWnt family member 7A | Väga sageli (80–99%) | Esineb 1 haiguses |
| ADAMTS2ADAM metallopeptidase with thrombospondin type 1 motif 2 | Sageli (30–79%) | Esineb 1 haiguses |
| ADAMTSL2ADAMTS like 2 | Sageli (30–79%) | Esineb 3 haiguses |
| AHDC1AT-hook DNA binding motif containing 1 | Sageli (30–79%) | Esineb 1 haiguses |
| BMP2bone morphogenetic protein 2 | Sageli (30–79%) | Esineb 1 haiguses |
| CDKL5cyclin dependent kinase like 5 | Sageli (30–79%) | Esineb 2 haiguses |
| CEP120centrosomal protein 120 | Sageli (30–79%) | Esineb 1 haiguses |
| CERT1ceramide transporter 1 | Sageli (30–79%) | Esineb 1 haiguses |
| COL3A1collagen type III alpha 1 chain | Sageli (30–79%) | Esineb 1 haiguses |
| CTSKcathepsin K | Sageli (30–79%) | Esineb 1 haiguses |
| CUL4Bcullin 4B | Sageli (30–79%) | Esineb 2 haiguses |
| DYNC2LI1dynein cytoplasmic 2 light intermediate chain 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 3 haiguses |
| FGFR3fibroblast growth factor receptor 3 | Sageli (30–79%) | Esineb 1 haiguses |
| H4C3H4 clustered histone 3 | Sageli (30–79%) | Esineb 1 haiguses |
| HDAC4histone deacetylase 4 | Sageli (30–79%) | Esineb 1 haiguses |
| HNRNPRheterogeneous nuclear ribonucleoprotein R | Sageli (30–79%) | Esineb 1 haiguses |
| IFT140intraflagellar transport 140 | Sageli (30–79%) | Esineb 1 haiguses |
| IFT172intraflagellar transport 172 | Sageli (30–79%) | Esineb 1 haiguses |
| KIAA0753KIAA0753 | Sageli (30–79%) | Esineb 1 haiguses |
| LTBP3latent transforming growth factor beta binding protein 3 | Sageli (30–79%) | Esineb 2 haiguses |
| MECP2methyl-CpG binding protein 2 | Sageli (30–79%) | Esineb 3 haiguses |
| NDNnecdin, MAGE family member | Sageli (30–79%) | Esineb 4 haiguses |
| NTNG1netrin G1 | Sageli (30–79%) | Esineb 1 haiguses |
| OCA2OCA2 melanosomal transmembrane protein | Sageli (30–79%) | Esineb 3 haiguses |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Sageli (30–79%) | Esineb 1 haiguses |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Sageli (30–79%) | Esineb 1 haiguses |
| PTH1Rparathyroid hormone 1 receptor | Sageli (30–79%) | Esineb 1 haiguses |
| RNF2ring finger protein 2 | Sageli (30–79%) | Esineb 1 haiguses |
| SIM1SIM bHLH transcription factor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Sageli (30–79%) | Esineb 5 haiguses |
| TRIP11thyroid hormone receptor interactor 11 | Sageli (30–79%) | Esineb 1 haiguses |
| TTC21Btetratricopeptide repeat domain 21B | Sageli (30–79%) | Esineb 1 haiguses |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CHD6chromodomain helicase DNA binding protein 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CHSY1chondroitin sulfate synthase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CRELD1CRELD disulfide isomerase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Mõnikord (5–29%) | Esineb 1 haiguses |
| FBXL4F-box and leucine rich repeat protein 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GTF3C3general transcription factor IIIC subunit 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KCNJ2potassium inwardly rectifying channel subfamily J member 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| KCNJ5potassium inwardly rectifying channel subfamily J member 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KDM4Blysine demethylase 4B | Mõnikord (5–29%) | Esineb 1 haiguses |
| MSL3MSL complex subunit 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PDGFRBplatelet derived growth factor receptor beta | Mõnikord (5–29%) | Esineb 1 haiguses |
| RNU4ATACRNA, U4atac small nuclear | Mõnikord (5–29%) | Esineb 1 haiguses |
| SATB1SATB homeobox 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SATB2SATB homeobox 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| SIN3ASIN3 transcription regulator family member A | Mõnikord (5–29%) | Esineb 1 haiguses |
| TELO2telomere maintenance 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TONSLtonsoku like, DNA repair protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| TUBB3tubulin beta 3 class III | Mõnikord (5–29%) | Esineb 1 haiguses |
| USP7ubiquitin specific peptidase 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| USP9Xubiquitin specific peptidase 9 X-linked | Mõnikord (5–29%) | Esineb 2 haiguses |
| WDR26WD repeat domain 26 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZFXzinc finger protein X-linked | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZMYM2zinc finger MYM-type containing 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ARL6ARF like GTPase 6 | Pole registreeritud | Esineb 1 haiguses |
| BBS1Bardet-Biedl syndrome 1 | Pole registreeritud | Esineb 1 haiguses |
| BGNbiglycan | Pole registreeritud | Esineb 1 haiguses |
| BPNT23'(2'), 5'-bisphosphate nucleotidase 2 | Pole registreeritud | Esineb 1 haiguses |
| CCBE1collagen and calcium binding EGF domains 1 | Pole registreeritud | Esineb 1 haiguses |
| CCDC28Bcoiled-coil domain containing 28B | Pole registreeritud | Esineb 1 haiguses |
| COG1component of oligomeric golgi complex 1 | Pole registreeritud | Esineb 1 haiguses |
| COL11A1collagen type XI alpha 1 chain | Pole registreeritud | Esineb 1 haiguses |
| FAM50Afamily with sequence similarity 50 member A | Pole registreeritud | Esineb 1 haiguses |
| FBXO11F-box protein 11 | Pole registreeritud | Esineb 1 haiguses |
| GALNT2polypeptide N-acetylgalactosaminyltransferase 2 | Pole registreeritud | Esineb 1 haiguses |
| GJA1gap junction protein alpha 1 | Pole registreeritud | Esineb 1 haiguses |
| HTThuntingtin | Pole registreeritud | Esineb 1 haiguses |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Pole registreeritud | Esineb 1 haiguses |
| IGF1Rinsulin like growth factor 1 receptor | Pole registreeritud | Esineb 1 haiguses |
| LMBR1limb development membrane protein 1 | Pole registreeritud | Esineb 1 haiguses |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Pole registreeritud | Esineb 1 haiguses |
| MASP1MBL associated serine protease 1 | Pole registreeritud | Esineb 1 haiguses |
| MBD5methyl-CpG binding domain protein 5 | Pole registreeritud | Esineb 1 haiguses |
| RECQL4RecQ like helicase 4 | Pole registreeritud | Esineb 1 haiguses |
| SONSON DNA and RNA binding protein | Pole registreeritud | Esineb 1 haiguses |
| TBL1XR1TBL1X/Y related 1 | Pole registreeritud | Esineb 1 haiguses |
| TRPS1transcriptional repressor GATA binding 1 | Pole registreeritud | Esineb 1 haiguses |
| TRRAPtransformation/transcription domain associated protein | 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 2026.10.17-8666dff2.
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast