Požymis
Small nail
A nail that is diminished in length and width, i.e., underdeveloped nail.
Santrauka
- Taip pat vadinama
- Small nails, Hypoplastic nail, Hypoplastic nails, Nail hypoplasia
- Kūno sistema
- Abnormality of the integument
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
Read the genes linked to Small nail, and the rest of your genome, with one test.
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Įsigyti savo Genome Test108 genų susiję su Small nail
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Small nail. 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 |
|---|---|---|
| ARID1AAT-rich interaction domain 1A | Visada | 2 ligose |
| ARID2AT-rich interaction domain 2 | Visada | 2 ligose |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Visada | 1 ligoje |
| DSTdystonin | Visada | 1 ligoje |
| HEPHL1hephaestin like 1 | Visada | 1 ligoje |
| HOXA13homeobox A13 | Visada | 1 ligoje |
| HOXC13homeobox C13 | Visada | 1 ligoje |
| HYAL2hyaluronidase 2 | Visada | 1 ligoje |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Visada | 1 ligoje |
| MED16mediator complex subunit 16 | Visada | 1 ligoje |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Visada | 1 ligoje |
| PTBP1polypyrimidine tract binding protein 1 | Visada | 1 ligoje |
| RIPK4receptor interacting serine/threonine kinase 4 | Visada | 1 ligoje |
| RMP64ribonuclease MRP subunit p64 | Visada | 1 ligoje |
| ROR2ROR family WNT receptor 2 | Visada | 1 ligoje |
| TOMM7translocase of outer mitochondrial membrane 7 | Visada | 1 ligoje |
| TSPAN7tetraspanin 7 | Visada | 1 ligoje |
| UBAP2Lubiquitin associated protein 2 like | Visada | 1 ligoje |
| ARID1BAT-rich interaction domain 1B | Labai dažnai (80–99%) | 1 ligoje |
| CTNNB1catenin beta 1 | Labai dažnai (80–99%) | 1 ligoje |
| DPF2double PHD fingers 2 | Labai dažnai (80–99%) | 1 ligoje |
| EVCEvC ciliary complex subunit 1 | Labai dažnai (80–99%) | 2 ligose |
| EVC2EvC ciliary complex subunit 2 | Labai dažnai (80–99%) | 2 ligose |
| SLC25A24solute carrier family 25 member 24 | Labai dažnai (80–99%) | 1 ligoje |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Labai dažnai (80–99%) | 1 ligoje |
| SMARCAD1SNF2 related chromatin remodeling ATPase with DExD box 1 | Labai dažnai (80–99%) | 2 ligose |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Labai dažnai (80–99%) | 1 ligoje |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Labai dažnai (80–99%) | 1 ligoje |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Labai dažnai (80–99%) | 1 ligoje |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Labai dažnai (80–99%) | 1 ligoje |
| SOX11SRY-box transcription factor 11 | Labai dažnai (80–99%) | 1 ligoje |
| SOX4SRY-box transcription factor 4 | Labai dažnai (80–99%) | 1 ligoje |
| CKAP2Lcytoskeleton associated protein 2L | Dažnai (30–79%) | 1 ligoje |
| ELNelastin | Dažnai (30–79%) | 1 ligoje |
| FRAS1Fraser extracellular matrix complex subunit 1 | Dažnai (30–79%) | 1 ligoje |
| GDF5growth differentiation factor 5 | Dažnai (30–79%) | 1 ligoje |
| GPC3glypican 3 | Dažnai (30–79%) | 1 ligoje |
| GPC4glypican 4 | Dažnai (30–79%) | 1 ligoje |
| IHHIndian hedgehog signaling molecule | Dažnai (30–79%) | 1 ligoje |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Dažnai (30–79%) | 1 ligoje |
Rodyti dar 68 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| KIF15kinesin family member 15 | Dažnai (30–79%) | 1 ligoje |
| MCTP2multiple C2 and transmembrane domain containing 2 | Dažnai (30–79%) | 1 ligoje |
| MLXIPLMLX interacting protein like | Dažnai (30–79%) | 1 ligoje |
| ODC1ornithine decarboxylase 1 | Dažnai (30–79%) | 2 ligose |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Dažnai (30–79%) | 1 ligoje |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Dažnai (30–79%) | 2 ligose |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Dažnai (30–79%) | 2 ligose |
| PORCNporcupine O-acyltransferase | Dažnai (30–79%) | 1 ligoje |
| PPM1Dprotein phosphatase, Mg2+/Mn2+ dependent 1D | Dažnai (30–79%) | 1 ligoje |
| PRR12proline rich 12 | Dažnai (30–79%) | 1 ligoje |
| TWIST1twist family bHLH transcription factor 1 | Dažnai (30–79%) | 1 ligoje |
| ACTL6Bactin like 6B | Kartais (5–29%) | 1 ligoje |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Kartais (5–29%) | 1 ligoje |
| ALOX12Barachidonate 12-lipoxygenase, 12R type | Kartais (5–29%) | 1 ligoje |
| ALOXE3arachidonate epidermal lipoxygenase 3 | Kartais (5–29%) | 1 ligoje |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Kartais (5–29%) | 1 ligoje |
| CDIN1CDAN1 interacting nuclease 1 | Kartais (5–29%) | 1 ligoje |
| COL7A1collagen type VII alpha 1 chain | Kartais (5–29%) | 1 ligoje |
| CWC27CWC27 spliceosome associated cyclophilin | Kartais (5–29%) | 2 ligose |
| DHX37DEAH-box helicase 37 | Kartais (5–29%) | 1 ligoje |
| DLK1delta like non-canonical Notch ligand 1 | Kartais (5–29%) | 1 ligoje |
| FOSL2FOS like 2, AP-1 transcription factor subunit | Kartais (5–29%) | 1 ligoje |
| GJB6gap junction protein beta 6 | Kartais (5–29%) | 2 ligose |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Kartais (5–29%) | 1 ligoje |
| KMT2Dlysine methyltransferase 2D | Kartais (5–29%) | 1 ligoje |
| MEG3maternally expressed 3 | Kartais (5–29%) | 1 ligoje |
| OTUD5OTU deubiquitinase 5 | Kartais (5–29%) | 1 ligoje |
| PEX2peroxisomal biogenesis factor 2 | Kartais (5–29%) | 1 ligoje |
| PGAP2post-GPI attachment to proteins 2 | Kartais (5–29%) | 1 ligoje |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Kartais (5–29%) | 1 ligoje |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Kartais (5–29%) | 1 ligoje |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Kartais (5–29%) | 1 ligoje |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Kartais (5–29%) | 1 ligoje |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Kartais (5–29%) | 1 ligoje |
| POP1POP1 ribonuclease P/MRP subunit | Kartais (5–29%) | 1 ligoje |
| REREarginine-glutamic acid dipeptide repeats | Kartais (5–29%) | 1 ligoje |
| RNU5B-1RNA, U5B small nuclear 1 | Kartais (5–29%) | 1 ligoje |
| RTL1retrotransposon Gag like 1 | Kartais (5–29%) | 1 ligoje |
| SIAH1siah E3 ubiquitin protein ligase 1 | Kartais (5–29%) | 1 ligoje |
| SPENspen family transcriptional repressor | Kartais (5–29%) | 1 ligoje |
| TMEM222transmembrane protein 222 | Kartais (5–29%) | 1 ligoje |
| ZFXzinc finger protein X-linked | Kartais (5–29%) | 1 ligoje |
| APC2APC regulator of Wnt signaling pathway 2 | Retai (1–4 %) | 1 ligoje |
| NSD1nuclear receptor binding SET domain protein 1 | Retai (1–4 %) | 2 ligose |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Retai (1–4 %) | 1 ligoje |
| ADAMTSL2ADAMTS like 2 | Neužfiksuota | 1 ligoje |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Neužfiksuota | 1 ligoje |
| ARHGAP31Rho GTPase activating protein 31 | Neužfiksuota | 1 ligoje |
| BHLHA9basic helix-loop-helix family member a9 | Neužfiksuota | 1 ligoje |
| CDH1cadherin 1 | Neužfiksuota | 1 ligoje |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Neužfiksuota | 1 ligoje |
| DOCK6dedicator of cytokinesis 6 | Neužfiksuota | 1 ligoje |
| EEDembryonic ectoderm development | Neužfiksuota | 1 ligoje |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Neužfiksuota | 1 ligoje |
| FGFR2fibroblast growth factor receptor 2 | Neužfiksuota | 1 ligoje |
| MPLKIPM-phase specific PLK1 interacting protein | Neužfiksuota | 1 ligoje |
| NECTIN4nectin cell adhesion molecule 4 | Neužfiksuota | 1 ligoje |
| NHP2NHP2 ribonucleoprotein | Neužfiksuota | 1 ligoje |
| NOP10NOP10 ribonucleoprotein | Neužfiksuota | 1 ligoje |
| POC1APOC1 centriolar protein A | Neužfiksuota | 1 ligoje |
| POLR3ARNA polymerase III subunit A | Neužfiksuota | 1 ligoje |
| RLIMring finger protein, LIM domain interacting | Neužfiksuota | 1 ligoje |
| RSPO1R-spondin 1 | Neužfiksuota | 1 ligoje |
| STAMBPSTAM binding protein | Neužfiksuota | 1 ligoje |
| TP63tumor protein p63 | Neužfiksuota | 1 ligoje |
| TRRAPtransformation/transcription domain associated protein | Neužfiksuota | 1 ligoje |
| WDR73WD repeat domain 73 | Neužfiksuota | 1 ligoje |
| WNT10AWnt family member 10A | 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.
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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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