Tunnus
Small hand
Disproportionately small hand.
Kokkuvõte
- Teised nimetused
- Disproportionately small hands, Small hands
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Small hand, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test130 geeni on seotud tunnusega Small hand
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Small hand. 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 |
|---|---|---|
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Alati | Esineb 1 haiguses |
| ARID2AT-rich interaction domain 2 | Alati | Esineb 1 haiguses |
| ATXN7L3ataxin 7 like 3 | Alati | Esineb 1 haiguses |
| CENPEcentromere protein E | Alati | Esineb 1 haiguses |
| CHUKcomponent of inhibitor of nuclear factor kappa B kinase complex | Alati | Esineb 1 haiguses |
| COG1component of oligomeric golgi complex 1 | Alati | Esineb 1 haiguses |
| EIF4A2eukaryotic translation initiation factor 4A2 | Alati | Esineb 1 haiguses |
| FBXO28F-box protein 28 | Alati | Esineb 1 haiguses |
| HOXA13homeobox A13 | Alati | Esineb 1 haiguses |
| KCNJ2potassium inwardly rectifying channel subfamily J member 2 | Alati | Esineb 2 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 |
| MECP2methyl-CpG binding protein 2 | Alati | Esineb 2 haiguses |
| MIR140microRNA 140 | Alati | Esineb 1 haiguses |
| NDC1NDC1 transmembrane nucleoporin | Alati | Esineb 1 haiguses |
| POC1APOC1 centriolar protein A | Alati | Esineb 1 haiguses |
| PRIM1DNA primase subunit 1 | Alati | Esineb 1 haiguses |
| PTBP1polypyrimidine tract binding protein 1 | Alati | Esineb 1 haiguses |
| PUM1pumilio RNA binding family member 1 | Alati | Esineb 1 haiguses |
| RECQL4RecQ like helicase 4 | Alati | Esineb 1 haiguses |
| RNU2-2RNA, U2 small nuclear 2 | Alati | Esineb 1 haiguses |
| SLC35C1solute carrier family 35 member C1 | Alati | Esineb 1 haiguses |
| SMC1Astructural maintenance of chromosomes 1A | Alati | Esineb 4 haiguses |
| SNAPINSNAP associated protein | Alati | Esineb 1 haiguses |
| TBC1D32TBC1 domain family member 32 | Alati | Esineb 1 haiguses |
| TCF4transcription factor 4 | Alati | Esineb 2 haiguses |
| BRD4bromodomain containing 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CDK10cyclin dependent kinase 10 | Väga sageli (80–99%) | Esineb 1 haiguses |
| COG4component of oligomeric golgi complex 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CUL4Bcullin 4B | Väga sageli (80–99%) | Esineb 2 haiguses |
| DLK1delta like non-canonical Notch ligand 1 | Väga sageli (80–99%) | Esineb 3 haiguses |
| FBN1fibrillin 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| FMR1fragile X messenger ribonucleoprotein 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| HDAC8histone deacetylase 8 | Väga sageli (80–99%) | Esineb 3 haiguses |
| LAS1LLAS1 like ribosome biogenesis factor | Väga sageli (80–99%) | Esineb 1 haiguses |
| LTBP3latent transforming growth factor beta binding protein 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MAU2MAU2 sister chromatid cohesion factor | Väga sageli (80–99%) | Esineb 2 haiguses |
| MEG3maternally expressed 3 | Väga sageli (80–99%) | Esineb 3 haiguses |
Näita veel 90 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| NGLY1N-glycanase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NIPBLNIPBL cohesin loading factor | Väga sageli (80–99%) | Esineb 2 haiguses |
| PPM1Dprotein phosphatase, Mg2+/Mn2+ dependent 1D | Väga sageli (80–99%) | Esineb 1 haiguses |
| RAD21RAD21 cohesin complex component | Väga sageli (80–99%) | Esineb 1 haiguses |
| RTL1retrotransposon Gag like 1 | Väga sageli (80–99%) | Esineb 3 haiguses |
| SMC3structural maintenance of chromosomes 3 | Väga sageli (80–99%) | Esineb 2 haiguses |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Väga sageli (80–99%) | Esineb 1 haiguses |
| TBCEtubulin folding cofactor E | Väga sageli (80–99%) | Esineb 4 haiguses |
| AHDC1AT-hook DNA binding motif containing 1 | Sageli (30–79%) | Esineb 1 haiguses |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Sageli (30–79%) | Esineb 1 haiguses |
| CANT1calcium activated nucleotidase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| CDKL5cyclin dependent kinase like 5 | Sageli (30–79%) | Esineb 2 haiguses |
| COL3A1collagen type III alpha 1 chain | Sageli (30–79%) | Esineb 1 haiguses |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| CTNNB1catenin beta 1 | Sageli (30–79%) | Esineb 1 haiguses |
| CTNND2catenin delta 2 | Sageli (30–79%) | Esineb 1 haiguses |
| CTSKcathepsin K | Sageli (30–79%) | Esineb 1 haiguses |
| EVCEvC ciliary complex subunit 1 | Sageli (30–79%) | Esineb 1 haiguses |
| EVC2EvC ciliary complex subunit 2 | Sageli (30–79%) | Esineb 1 haiguses |
| FGFR2fibroblast growth factor receptor 2 | Sageli (30–79%) | Esineb 2 haiguses |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Sageli (30–79%) | Esineb 2 haiguses |
| HDAC4histone deacetylase 4 | Sageli (30–79%) | Esineb 1 haiguses |
| MAGEL2MAGE family member L2 | Sageli (30–79%) | Esineb 7 haiguses |
| MCTP2multiple C2 and transmembrane domain containing 2 | Sageli (30–79%) | Esineb 1 haiguses |
| MTFMTmitochondrial methionyl-tRNA formyltransferase | Sageli (30–79%) | Esineb 1 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 |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Sageli (30–79%) | Esineb 1 haiguses |
| RNF2ring finger protein 2 | Sageli (30–79%) | Esineb 1 haiguses |
| SEMA5Asemaphorin 5A | Sageli (30–79%) | Esineb 1 haiguses |
| SIM1SIM bHLH transcription factor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SLC6A17solute carrier family 6 member 17 | Sageli (30–79%) | Esineb 1 haiguses |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Sageli (30–79%) | Esineb 1 haiguses |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Sageli (30–79%) | Esineb 5 haiguses |
| WRNWRN RecQ like helicase | Sageli (30–79%) | Esineb 1 haiguses |
| XYLT1xylosyltransferase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| AFF4ALF transcription elongation factor 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BPTFbromodomain PHD finger transcription factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| CHD6chromodomain helicase DNA binding protein 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CNOT3CCR4-NOT transcription complex subunit 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CRELD1CRELD disulfide isomerase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DPH1diphthamide biosynthesis 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DPH2diphthamide biosynthesis 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FBXO11F-box protein 11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HIVEP2HIVEP zinc finger 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HPGD15-hydroxyprostaglandin dehydrogenase | Mõnikord (5–29%) | Esineb 1 haiguses |
| IGF2insulin like growth factor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KCNJ5potassium inwardly rectifying channel subfamily J member 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KDM6Alysine demethylase 6A | Mõnikord (5–29%) | Esineb 1 haiguses |
| KMT2Alysine methyltransferase 2A | Mõnikord (5–29%) | Esineb 1 haiguses |
| KMT2Dlysine methyltransferase 2D | Mõnikord (5–29%) | Esineb 1 haiguses |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Mõnikord (5–29%) | Esineb 1 haiguses |
| SATB1SATB homeobox 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SATB2SATB homeobox 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SIN3ASIN3 transcription regulator family member A | Mõnikord (5–29%) | Esineb 2 haiguses |
| SLCO2A1solute carrier organic anion transporter family member 2A1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TELO2telomere maintenance 2 | 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 |
| ACBD6acyl-CoA binding domain containing 6 | Harva (1–4%) | Esineb 1 haiguses |
| CTCFCCCTC-binding factor | Harva (1–4%) | Esineb 1 haiguses |
| ADNPactivity dependent neuroprotector homeobox | 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 |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Pole registreeritud | Esineb 1 haiguses |
| DVL1dishevelled segment polarity protein 1 | Pole registreeritud | Esineb 1 haiguses |
| FAM50Afamily with sequence similarity 50 member A | Pole registreeritud | Esineb 1 haiguses |
| GALNT2polypeptide N-acetylgalactosaminyltransferase 2 | Pole registreeritud | Esineb 1 haiguses |
| GJA1gap junction protein alpha 1 | Pole registreeritud | Esineb 1 haiguses |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | 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 |
| KIFBPkinesin family binding protein | Pole registreeritud | Esineb 1 haiguses |
| MKRN3makorin ring finger protein 3 | Pole registreeritud | Esineb 1 haiguses |
| NPAP1nuclear pore associated protein 1 | Pole registreeritud | Esineb 1 haiguses |
| ORC1origin recognition complex subunit 1 | Pole registreeritud | Esineb 1 haiguses |
| PCGF2polycomb group ring finger 2 | Pole registreeritud | Esineb 1 haiguses |
| PWAR1Prader Willi/Angelman region RNA 1 | Pole registreeritud | Esineb 1 haiguses |
| PWRN1Prader-Willi region non-protein coding RNA 1 | Pole registreeritud | Esineb 1 haiguses |
| ROR2ROR family WNT receptor 2 | Pole registreeritud | Esineb 1 haiguses |
| SNORD115-1small nucleolar RNA, C/D box 115-1 | Pole registreeritud | Esineb 1 haiguses |
| SNORD116-1small nucleolar RNA, C/D box 116-1 | Pole registreeritud | Esineb 1 haiguses |
| SONSON DNA and RNA binding protein | Pole registreeritud | Esineb 1 haiguses |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Pole registreeritud | Esineb 1 haiguses |
| WDR81WD repeat domain 81 | Pole registreeritud | Esineb 1 haiguses |
| WNT5AWnt family member 5A | 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.
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast