Požymis
Small hand
Disproportionately small hand.
Santrauka
- Taip pat vadinama
- Disproportionately small hands, Small hands
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
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Įsigyti savo Genome Test130 genų susiję su Small hand
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Small hand. 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 |
|---|---|---|
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Visada | 1 ligoje |
| ARID2AT-rich interaction domain 2 | Visada | 1 ligoje |
| ATXN7L3ataxin 7 like 3 | Visada | 1 ligoje |
| CENPEcentromere protein E | Visada | 1 ligoje |
| CHUKcomponent of inhibitor of nuclear factor kappa B kinase complex | Visada | 1 ligoje |
| COG1component of oligomeric golgi complex 1 | Visada | 1 ligoje |
| EIF4A2eukaryotic translation initiation factor 4A2 | Visada | 1 ligoje |
| FBXO28F-box protein 28 | Visada | 1 ligoje |
| HOXA13homeobox A13 | Visada | 1 ligoje |
| KCNJ2potassium inwardly rectifying channel subfamily J member 2 | Visada | 2 ligose |
| KDM6Blysine demethylase 6B | Visada | 1 ligoje |
| KIF5Ckinesin family member 5C | Visada | 1 ligoje |
| LRRC7leucine rich repeat containing 7 | Visada | 1 ligoje |
| MECP2methyl-CpG binding protein 2 | Visada | 2 ligose |
| MIR140microRNA 140 | Visada | 1 ligoje |
| NDC1NDC1 transmembrane nucleoporin | Visada | 1 ligoje |
| POC1APOC1 centriolar protein A | Visada | 1 ligoje |
| PRIM1DNA primase subunit 1 | Visada | 1 ligoje |
| PTBP1polypyrimidine tract binding protein 1 | Visada | 1 ligoje |
| PUM1pumilio RNA binding family member 1 | Visada | 1 ligoje |
| RECQL4RecQ like helicase 4 | Visada | 1 ligoje |
| RNU2-2RNA, U2 small nuclear 2 | Visada | 1 ligoje |
| SLC35C1solute carrier family 35 member C1 | Visada | 1 ligoje |
| SMC1Astructural maintenance of chromosomes 1A | Visada | 4 ligose |
| SNAPINSNAP associated protein | Visada | 1 ligoje |
| TBC1D32TBC1 domain family member 32 | Visada | 1 ligoje |
| TCF4transcription factor 4 | Visada | 2 ligose |
| BRD4bromodomain containing 4 | Labai dažnai (80–99%) | 1 ligoje |
| CDK10cyclin dependent kinase 10 | Labai dažnai (80–99%) | 1 ligoje |
| COG4component of oligomeric golgi complex 4 | Labai dažnai (80–99%) | 1 ligoje |
| CUL4Bcullin 4B | Labai dažnai (80–99%) | 2 ligose |
| DLK1delta like non-canonical Notch ligand 1 | Labai dažnai (80–99%) | 3 ligose |
| FBN1fibrillin 1 | Labai dažnai (80–99%) | 1 ligoje |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Labai dažnai (80–99%) | 1 ligoje |
| FMR1fragile X messenger ribonucleoprotein 1 | Labai dažnai (80–99%) | 1 ligoje |
| HDAC8histone deacetylase 8 | Labai dažnai (80–99%) | 3 ligose |
| LAS1LLAS1 like ribosome biogenesis factor | Labai dažnai (80–99%) | 1 ligoje |
| LTBP3latent transforming growth factor beta binding protein 3 | Labai dažnai (80–99%) | 1 ligoje |
| MAU2MAU2 sister chromatid cohesion factor | Labai dažnai (80–99%) | 2 ligose |
| MEG3maternally expressed 3 | Labai dažnai (80–99%) | 3 ligose |
Rodyti dar 90 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| NGLY1N-glycanase 1 | Labai dažnai (80–99%) | 1 ligoje |
| NIPBLNIPBL cohesin loading factor | Labai dažnai (80–99%) | 2 ligose |
| PPM1Dprotein phosphatase, Mg2+/Mn2+ dependent 1D | Labai dažnai (80–99%) | 1 ligoje |
| RAD21RAD21 cohesin complex component | Labai dažnai (80–99%) | 1 ligoje |
| RTL1retrotransposon Gag like 1 | Labai dažnai (80–99%) | 3 ligose |
| SMC3structural maintenance of chromosomes 3 | Labai dažnai (80–99%) | 2 ligose |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Labai dažnai (80–99%) | 1 ligoje |
| TBCEtubulin folding cofactor E | Labai dažnai (80–99%) | 4 ligose |
| AHDC1AT-hook DNA binding motif containing 1 | Dažnai (30–79%) | 1 ligoje |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Dažnai (30–79%) | 1 ligoje |
| CANT1calcium activated nucleotidase 1 | Dažnai (30–79%) | 1 ligoje |
| CDKL5cyclin dependent kinase like 5 | Dažnai (30–79%) | 2 ligose |
| COL3A1collagen type III alpha 1 chain | Dažnai (30–79%) | 1 ligoje |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Dažnai (30–79%) | 1 ligoje |
| CTNNB1catenin beta 1 | Dažnai (30–79%) | 1 ligoje |
| CTNND2catenin delta 2 | Dažnai (30–79%) | 1 ligoje |
| CTSKcathepsin K | Dažnai (30–79%) | 1 ligoje |
| EVCEvC ciliary complex subunit 1 | Dažnai (30–79%) | 1 ligoje |
| EVC2EvC ciliary complex subunit 2 | Dažnai (30–79%) | 1 ligoje |
| FGFR2fibroblast growth factor receptor 2 | Dažnai (30–79%) | 2 ligose |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Dažnai (30–79%) | 2 ligose |
| HDAC4histone deacetylase 4 | Dažnai (30–79%) | 1 ligoje |
| MAGEL2MAGE family member L2 | Dažnai (30–79%) | 7 ligose |
| MCTP2multiple C2 and transmembrane domain containing 2 | Dažnai (30–79%) | 1 ligoje |
| MTFMTmitochondrial methionyl-tRNA formyltransferase | Dažnai (30–79%) | 1 ligoje |
| NDNnecdin, MAGE family member | Dažnai (30–79%) | 4 ligose |
| NTNG1netrin G1 | Dažnai (30–79%) | 1 ligoje |
| OCA2OCA2 melanosomal transmembrane protein | Dažnai (30–79%) | 3 ligose |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Dažnai (30–79%) | 1 ligoje |
| RNF2ring finger protein 2 | Dažnai (30–79%) | 1 ligoje |
| SEMA5Asemaphorin 5A | Dažnai (30–79%) | 1 ligoje |
| SIM1SIM bHLH transcription factor 1 | Dažnai (30–79%) | 1 ligoje |
| SLC6A17solute carrier family 6 member 17 | Dažnai (30–79%) | 1 ligoje |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Dažnai (30–79%) | 1 ligoje |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Dažnai (30–79%) | 5 ligose |
| WRNWRN RecQ like helicase | Dažnai (30–79%) | 1 ligoje |
| XYLT1xylosyltransferase 1 | Dažnai (30–79%) | 1 ligoje |
| AFF4ALF transcription elongation factor 4 | Kartais (5–29%) | 1 ligoje |
| BPTFbromodomain PHD finger transcription factor | Kartais (5–29%) | 1 ligoje |
| CHD6chromodomain helicase DNA binding protein 6 | Kartais (5–29%) | 1 ligoje |
| CNOT3CCR4-NOT transcription complex subunit 3 | Kartais (5–29%) | 1 ligoje |
| CRELD1CRELD disulfide isomerase 1 | Kartais (5–29%) | 1 ligoje |
| DPH1diphthamide biosynthesis 1 | Kartais (5–29%) | 1 ligoje |
| DPH2diphthamide biosynthesis 2 | Kartais (5–29%) | 1 ligoje |
| FBXO11F-box protein 11 | Kartais (5–29%) | 1 ligoje |
| HIVEP2HIVEP zinc finger 2 | Kartais (5–29%) | 1 ligoje |
| HPGD15-hydroxyprostaglandin dehydrogenase | Kartais (5–29%) | 1 ligoje |
| IGF2insulin like growth factor 2 | Kartais (5–29%) | 1 ligoje |
| KCNJ5potassium inwardly rectifying channel subfamily J member 5 | Kartais (5–29%) | 1 ligoje |
| KDM6Alysine demethylase 6A | Kartais (5–29%) | 1 ligoje |
| KMT2Alysine methyltransferase 2A | Kartais (5–29%) | 1 ligoje |
| KMT2Dlysine methyltransferase 2D | Kartais (5–29%) | 1 ligoje |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Kartais (5–29%) | 1 ligoje |
| SATB1SATB homeobox 1 | Kartais (5–29%) | 1 ligoje |
| SATB2SATB homeobox 2 | Kartais (5–29%) | 1 ligoje |
| SIN3ASIN3 transcription regulator family member A | Kartais (5–29%) | 2 ligose |
| SLCO2A1solute carrier organic anion transporter family member 2A1 | Kartais (5–29%) | 1 ligoje |
| TELO2telomere maintenance 2 | Kartais (5–29%) | 1 ligoje |
| TUBB3tubulin beta 3 class III | Kartais (5–29%) | 1 ligoje |
| USP7ubiquitin specific peptidase 7 | Kartais (5–29%) | 1 ligoje |
| USP9Xubiquitin specific peptidase 9 X-linked | Kartais (5–29%) | 2 ligose |
| WDR26WD repeat domain 26 | Kartais (5–29%) | 1 ligoje |
| ACBD6acyl-CoA binding domain containing 6 | Retai (1–4 %) | 1 ligoje |
| CTCFCCCTC-binding factor | Retai (1–4 %) | 1 ligoje |
| ADNPactivity dependent neuroprotector homeobox | Neužfiksuota | 1 ligoje |
| CCBE1collagen and calcium binding EGF domains 1 | Neužfiksuota | 1 ligoje |
| COL11A1collagen type XI alpha 1 chain | Neužfiksuota | 1 ligoje |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Neužfiksuota | 1 ligoje |
| DVL1dishevelled segment polarity protein 1 | Neužfiksuota | 1 ligoje |
| FAM50Afamily with sequence similarity 50 member A | Neužfiksuota | 1 ligoje |
| GALNT2polypeptide N-acetylgalactosaminyltransferase 2 | Neužfiksuota | 1 ligoje |
| GJA1gap junction protein alpha 1 | Neužfiksuota | 1 ligoje |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Neužfiksuota | 1 ligoje |
| HTThuntingtin | Neužfiksuota | 1 ligoje |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Neužfiksuota | 1 ligoje |
| IGF1Rinsulin like growth factor 1 receptor | Neužfiksuota | 1 ligoje |
| KIFBPkinesin family binding protein | Neužfiksuota | 1 ligoje |
| MKRN3makorin ring finger protein 3 | Neužfiksuota | 1 ligoje |
| NPAP1nuclear pore associated protein 1 | Neužfiksuota | 1 ligoje |
| ORC1origin recognition complex subunit 1 | Neužfiksuota | 1 ligoje |
| PCGF2polycomb group ring finger 2 | Neužfiksuota | 1 ligoje |
| PWAR1Prader Willi/Angelman region RNA 1 | Neužfiksuota | 1 ligoje |
| PWRN1Prader-Willi region non-protein coding RNA 1 | Neužfiksuota | 1 ligoje |
| ROR2ROR family WNT receptor 2 | Neužfiksuota | 1 ligoje |
| SNORD115-1small nucleolar RNA, C/D box 115-1 | Neužfiksuota | 1 ligoje |
| SNORD116-1small nucleolar RNA, C/D box 116-1 | Neužfiksuota | 1 ligoje |
| SONSON DNA and RNA binding protein | Neužfiksuota | 1 ligoje |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Neužfiksuota | 1 ligoje |
| WDR81WD repeat domain 81 | Neužfiksuota | 1 ligoje |
| WNT5AWnt family member 5A | 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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