Tunnus
Small nail
A nail that is diminished in length and width, i.e., underdeveloped nail.
Kokkuvõte
- Teised nimetused
- Small nails, Hypoplastic nail, Hypoplastic nails, Nail hypoplasia
- Kehasüsteem
- Abnormality of the integument
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Small nail, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test108 geeni on seotud tunnusega Small nail
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Small nail. 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 |
|---|---|---|
| ARID1AAT-rich interaction domain 1A | Alati | Esineb 2 haiguses |
| ARID2AT-rich interaction domain 2 | Alati | Esineb 2 haiguses |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Alati | Esineb 1 haiguses |
| DSTdystonin | Alati | Esineb 1 haiguses |
| HEPHL1hephaestin like 1 | Alati | Esineb 1 haiguses |
| HOXA13homeobox A13 | Alati | Esineb 1 haiguses |
| HOXC13homeobox C13 | Alati | Esineb 1 haiguses |
| HYAL2hyaluronidase 2 | Alati | Esineb 1 haiguses |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Alati | Esineb 1 haiguses |
| MED16mediator complex subunit 16 | Alati | Esineb 1 haiguses |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Alati | Esineb 1 haiguses |
| PTBP1polypyrimidine tract binding protein 1 | Alati | Esineb 1 haiguses |
| RIPK4receptor interacting serine/threonine kinase 4 | Alati | Esineb 1 haiguses |
| RMP64ribonuclease MRP subunit p64 | Alati | Esineb 1 haiguses |
| ROR2ROR family WNT receptor 2 | Alati | Esineb 1 haiguses |
| TOMM7translocase of outer mitochondrial membrane 7 | Alati | Esineb 1 haiguses |
| TSPAN7tetraspanin 7 | Alati | Esineb 1 haiguses |
| UBAP2Lubiquitin associated protein 2 like | Alati | Esineb 1 haiguses |
| ARID1BAT-rich interaction domain 1B | Väga sageli (80–99%) | Esineb 1 haiguses |
| CTNNB1catenin beta 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| DPF2double PHD fingers 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| EVCEvC ciliary complex subunit 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| EVC2EvC ciliary complex subunit 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| SLC25A24solute carrier family 25 member 24 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SMARCAD1SNF2 related chromatin remodeling ATPase with DExD box 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SOX11SRY-box transcription factor 11 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SOX4SRY-box transcription factor 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CKAP2Lcytoskeleton associated protein 2L | Sageli (30–79%) | Esineb 1 haiguses |
| ELNelastin | Sageli (30–79%) | Esineb 1 haiguses |
| FRAS1Fraser extracellular matrix complex subunit 1 | Sageli (30–79%) | Esineb 1 haiguses |
| GDF5growth differentiation factor 5 | Sageli (30–79%) | Esineb 1 haiguses |
| GPC3glypican 3 | Sageli (30–79%) | Esineb 1 haiguses |
| GPC4glypican 4 | Sageli (30–79%) | Esineb 1 haiguses |
| IHHIndian hedgehog signaling molecule | Sageli (30–79%) | Esineb 1 haiguses |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Sageli (30–79%) | Esineb 1 haiguses |
Näita veel 68 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| KIF15kinesin family member 15 | Sageli (30–79%) | Esineb 1 haiguses |
| MCTP2multiple C2 and transmembrane domain containing 2 | Sageli (30–79%) | Esineb 1 haiguses |
| MLXIPLMLX interacting protein like | Sageli (30–79%) | Esineb 1 haiguses |
| ODC1ornithine decarboxylase 1 | Sageli (30–79%) | Esineb 2 haiguses |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Sageli (30–79%) | Esineb 1 haiguses |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Sageli (30–79%) | Esineb 2 haiguses |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Sageli (30–79%) | Esineb 2 haiguses |
| PORCNporcupine O-acyltransferase | Sageli (30–79%) | Esineb 1 haiguses |
| PPM1Dprotein phosphatase, Mg2+/Mn2+ dependent 1D | Sageli (30–79%) | Esineb 1 haiguses |
| PRR12proline rich 12 | Sageli (30–79%) | Esineb 1 haiguses |
| TWIST1twist family bHLH transcription factor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ACTL6Bactin like 6B | Mõnikord (5–29%) | Esineb 1 haiguses |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| ALOX12Barachidonate 12-lipoxygenase, 12R type | Mõnikord (5–29%) | Esineb 1 haiguses |
| ALOXE3arachidonate epidermal lipoxygenase 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| CDIN1CDAN1 interacting nuclease 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| COL7A1collagen type VII alpha 1 chain | Mõnikord (5–29%) | Esineb 1 haiguses |
| CWC27CWC27 spliceosome associated cyclophilin | Mõnikord (5–29%) | Esineb 2 haiguses |
| DHX37DEAH-box helicase 37 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DLK1delta like non-canonical Notch ligand 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FOSL2FOS like 2, AP-1 transcription factor subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| GJB6gap junction protein beta 6 | Mõnikord (5–29%) | Esineb 2 haiguses |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KMT2Dlysine methyltransferase 2D | Mõnikord (5–29%) | Esineb 1 haiguses |
| MEG3maternally expressed 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| OTUD5OTU deubiquitinase 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PEX2peroxisomal biogenesis factor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PGAP2post-GPI attachment to proteins 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Mõnikord (5–29%) | Esineb 1 haiguses |
| POP1POP1 ribonuclease P/MRP subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| REREarginine-glutamic acid dipeptide repeats | Mõnikord (5–29%) | Esineb 1 haiguses |
| RNU5B-1RNA, U5B small nuclear 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RTL1retrotransposon Gag like 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SIAH1siah E3 ubiquitin protein ligase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SPENspen family transcriptional repressor | Mõnikord (5–29%) | Esineb 1 haiguses |
| TMEM222transmembrane protein 222 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZFXzinc finger protein X-linked | Mõnikord (5–29%) | Esineb 1 haiguses |
| APC2APC regulator of Wnt signaling pathway 2 | Harva (1–4%) | Esineb 1 haiguses |
| NSD1nuclear receptor binding SET domain protein 1 | Harva (1–4%) | Esineb 2 haiguses |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Harva (1–4%) | Esineb 1 haiguses |
| ADAMTSL2ADAMTS like 2 | Pole registreeritud | Esineb 1 haiguses |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Pole registreeritud | Esineb 1 haiguses |
| ARHGAP31Rho GTPase activating protein 31 | Pole registreeritud | Esineb 1 haiguses |
| BHLHA9basic helix-loop-helix family member a9 | Pole registreeritud | Esineb 1 haiguses |
| CDH1cadherin 1 | Pole registreeritud | Esineb 1 haiguses |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Pole registreeritud | Esineb 1 haiguses |
| DOCK6dedicator of cytokinesis 6 | Pole registreeritud | Esineb 1 haiguses |
| EEDembryonic ectoderm development | Pole registreeritud | Esineb 1 haiguses |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Pole registreeritud | Esineb 1 haiguses |
| FGFR2fibroblast growth factor receptor 2 | Pole registreeritud | Esineb 1 haiguses |
| MPLKIPM-phase specific PLK1 interacting protein | Pole registreeritud | Esineb 1 haiguses |
| NECTIN4nectin cell adhesion molecule 4 | Pole registreeritud | Esineb 1 haiguses |
| NHP2NHP2 ribonucleoprotein | Pole registreeritud | Esineb 1 haiguses |
| NOP10NOP10 ribonucleoprotein | Pole registreeritud | Esineb 1 haiguses |
| POC1APOC1 centriolar protein A | Pole registreeritud | Esineb 1 haiguses |
| POLR3ARNA polymerase III subunit A | Pole registreeritud | Esineb 1 haiguses |
| RLIMring finger protein, LIM domain interacting | Pole registreeritud | Esineb 1 haiguses |
| RSPO1R-spondin 1 | Pole registreeritud | Esineb 1 haiguses |
| STAMBPSTAM binding protein | Pole registreeritud | Esineb 1 haiguses |
| TP63tumor protein p63 | Pole registreeritud | Esineb 1 haiguses |
| TRRAPtransformation/transcription domain associated protein | Pole registreeritud | Esineb 1 haiguses |
| WDR73WD repeat domain 73 | Pole registreeritud | Esineb 1 haiguses |
| WNT10AWnt family member 10A | 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.
Kitsamad tunnused
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.
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Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast