Požymis
Tapered finger
The gradual reduction in girth of the finger from proximal to distal.
Santrauka
- Taip pat vadinama
- Tapered fingertips, Tapering fingers, Distally tapering fingers
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
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Įsigyti savo Genome Test170 genų susiję su Tapered finger
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Tapered finger. 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 |
|---|---|---|
| AMOTL1angiomotin like 1 | Visada | 1 ligoje |
| ARID2AT-rich interaction domain 2 | Visada | 1 ligoje |
| BRF1BRF1 general transcription factor IIIB subunit | Visada | 2 ligose |
| CCDC88Acoiled-coil and HOOK domain protein 88A | Visada | 1 ligoje |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Visada | 1 ligoje |
| COPB1coat protein complex I subunit beta 1 | Visada | 1 ligoje |
| DHRS3dehydrogenase/reductase 3 | Visada | 1 ligoje |
| DONSONDNA replication fork stabilization factor DONSON | Visada | 1 ligoje |
| DPH5diphthamide biosynthesis 5 | Visada | 1 ligoje |
| ECE1endothelin converting enzyme 1 | Visada | 1 ligoje |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Visada | 1 ligoje |
| EXOSC5exosome component 5 | Visada | 1 ligoje |
| FIG4FIG4 phosphoinositide 5-phosphatase | Visada | 2 ligose |
| GNB2G protein subunit beta 2 | Visada | 1 ligoje |
| JKAMPJNK1/MAPK8 associated membrane protein | Visada | 1 ligoje |
| KDM2Blysine demethylase 2B | Visada | 1 ligoje |
| KIF7kinesin family member 7 | Visada | 2 ligose |
| MAP1Bmicrotubule associated protein 1B | Visada | 1 ligoje |
| MED16mediator complex subunit 16 | Visada | 1 ligoje |
| NDC1NDC1 transmembrane nucleoporin | Visada | 1 ligoje |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Visada | 2 ligose |
| PRIM1DNA primase subunit 1 | Visada | 1 ligoje |
| PUM1pumilio RNA binding family member 1 | Visada | 1 ligoje |
| RAB11BRAB11B, member RAS oncogene family | Visada | 1 ligoje |
| RPS6KA3ribosomal protein S6 kinase A3 | Visada | 3 ligose |
| SCARF2scavenger receptor class F member 2 | Visada | 1 ligoje |
| SLC13A1solute carrier family 13 member 1 | Visada | 1 ligoje |
| SLC25A12solute carrier family 25 member 12 | Visada | 1 ligoje |
| VPS13Bvacuolar protein sorting 13 homolog B | Visada | 2 ligose |
| AHDC1AT-hook DNA binding motif containing 1 | Labai dažnai (80–99%) | 1 ligoje |
| AIPAHR interacting HSP90 co-chaperone | Labai dažnai (80–99%) | 1 ligoje |
| GPR101G protein-coupled receptor 101 | Labai dažnai (80–99%) | 1 ligoje |
| HDAC8histone deacetylase 8 | Labai dažnai (80–99%) | 1 ligoje |
| INPPL1inositol polyphosphate phosphatase like 1 | Labai dažnai (80–99%) | 1 ligoje |
| KIF1Akinesin family member 1A | Labai dažnai (80–99%) | 1 ligoje |
| LAS1LLAS1 like ribosome biogenesis factor | Labai dažnai (80–99%) | 2 ligose |
| PHF6PHD finger protein 6 | Labai dažnai (80–99%) | 2 ligose |
| RETREG1reticulophagy regulator 1 | Labai dažnai (80–99%) | 1 ligoje |
| SCN9Asodium voltage-gated channel alpha subunit 9 | Labai dažnai (80–99%) | 1 ligoje |
| TCF4transcription factor 4 | Labai dažnai (80–99%) | 2 ligose |
Rodyti dar 130 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| TRAPPC9trafficking protein particle complex subunit 9 | Labai dažnai (80–99%) | 1 ligoje |
| WNK1WNK lysine deficient protein kinase 1 | Labai dažnai (80–99%) | 1 ligoje |
| ZNHIT3zinc finger HIT-type containing 3 | Labai dažnai (80–99%) | 2 ligose |
| ACSL4acyl-CoA synthetase long chain family member 4 | Dažnai (30–79%) | 1 ligoje |
| ADAMTSL1ADAMTS like 1 | Dažnai (30–79%) | 1 ligoje |
| AMMECR1AMMECR nuclear protein 1 | Dažnai (30–79%) | 1 ligoje |
| BCL11ABCL11 transcription factor A | Dažnai (30–79%) | 1 ligoje |
| CHST14carbohydrate sulfotransferase 14 | Dažnai (30–79%) | 1 ligoje |
| DDX6DEAD-box helicase 6 | Dažnai (30–79%) | 1 ligoje |
| DLX5distal-less homeobox 5 | Dažnai (30–79%) | 1 ligoje |
| DSEdermatan sulfate epimerase | Dažnai (30–79%) | 1 ligoje |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Dažnai (30–79%) | 3 ligose |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Dažnai (30–79%) | 1 ligoje |
| GATA4GATA binding protein 4 | Dažnai (30–79%) | 1 ligoje |
| GNAI1G protein subunit alpha i1 | Dažnai (30–79%) | 1 ligoje |
| GTPBP1GTP binding protein 1 | Dažnai (30–79%) | 1 ligoje |
| GTPBP2GTP binding protein 2 | Dažnai (30–79%) | 1 ligoje |
| HEATR3HEAT repeat containing 3 | Dažnai (30–79%) | 1 ligoje |
| HIVEP2HIVEP zinc finger 2 | Dažnai (30–79%) | 1 ligoje |
| IRX5iroquois homeobox 5 | Dažnai (30–79%) | 1 ligoje |
| KCNE5potassium voltage-gated channel subfamily E regulatory subunit 5 | Dažnai (30–79%) | 1 ligoje |
| KMT2Alysine methyltransferase 2A | Dažnai (30–79%) | 2 ligose |
| MAFMAF bZIP transcription factor | Dažnai (30–79%) | 2 ligose |
| MTHFSmethenyltetrahydrofolate synthetase | Dažnai (30–79%) | 1 ligoje |
| MYOD1myogenic differentiation 1 | Dažnai (30–79%) | 1 ligoje |
| NAA80N-alpha-acetyltransferase 80, NatH catalytic subunit | Dažnai (30–79%) | 1 ligoje |
| NR2F1nuclear receptor subfamily 2 group F member 1 | Dažnai (30–79%) | 2 ligose |
| OTUD6BOTU deubiquitinase 6B | Dažnai (30–79%) | 2 ligose |
| PCGF2polycomb group ring finger 2 | Dažnai (30–79%) | 1 ligoje |
| PHF21APHD finger protein 21A | Dažnai (30–79%) | 1 ligoje |
| PHIPPHIP subunit of CUL4-Ring ligase complex | Dažnai (30–79%) | 2 ligose |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Dažnai (30–79%) | 1 ligoje |
| PRR12proline rich 12 | Dažnai (30–79%) | 1 ligoje |
| RBSNrabenosyn, RAB effector | Dažnai (30–79%) | 1 ligoje |
| RELREL proto-oncogene, NF-kB subunit | Dažnai (30–79%) | 1 ligoje |
| RPL10ribosomal protein L10 | Dažnai (30–79%) | 3 ligose |
| RUSC2RUN and SH3 domain containing 2 | Dažnai (30–79%) | 1 ligoje |
| SETD1BSET domain containing 1B, histone lysine methyltransferase | Dažnai (30–79%) | 1 ligoje |
| SLC39A13solute carrier family 39 member 13 | Dažnai (30–79%) | 2 ligose |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Dažnai (30–79%) | 1 ligoje |
| SNIP1Smad nuclear interacting protein 1 | Dažnai (30–79%) | 1 ligoje |
| TBCKTBC1 domain containing kinase | Dažnai (30–79%) | 1 ligoje |
| TFE3transcription factor binding to IGHM enhancer 3 | Dažnai (30–79%) | 1 ligoje |
| TRIOtrio Rho guanine nucleotide exchange factor | Dažnai (30–79%) | 3 ligose |
| VAC14VAC14 component of PIKFYVE complex | Dažnai (30–79%) | 1 ligoje |
| WASF1WASP family member 1 | Dažnai (30–79%) | 1 ligoje |
| XPO1exportin 1 | Dažnai (30–79%) | 1 ligoje |
| ADNPactivity dependent neuroprotector homeobox | Kartais (5–29%) | 1 ligoje |
| CCNKcyclin K | Kartais (5–29%) | 1 ligoje |
| CDC42cell division cycle 42 | Kartais (5–29%) | 2 ligose |
| CDC42BPBCDC42 binding protein kinase beta | Kartais (5–29%) | 1 ligoje |
| CNOT3CCR4-NOT transcription complex subunit 3 | Kartais (5–29%) | 1 ligoje |
| COL12A1collagen type XII alpha 1 chain | Kartais (5–29%) | 1 ligoje |
| CRELD1CRELD disulfide isomerase 1 | Kartais (5–29%) | 1 ligoje |
| DHX30DExH-box helicase 30 | Kartais (5–29%) | 1 ligoje |
| DPYSL5dihydropyrimidinase like 5 | Kartais (5–29%) | 1 ligoje |
| EBF3EBF transcription factor 3 | Kartais (5–29%) | 2 ligose |
| FBXO11F-box protein 11 | Kartais (5–29%) | 1 ligoje |
| FBXO22F-box protein 22 | Kartais (5–29%) | 1 ligoje |
| FEM1Bfem-1 homolog B | Kartais (5–29%) | 1 ligoje |
| GATA2GATA binding protein 2 | Kartais (5–29%) | 1 ligoje |
| GJA1gap junction protein alpha 1 | Kartais (5–29%) | 1 ligoje |
| GJB3gap junction protein beta 3 | Kartais (5–29%) | 1 ligoje |
| GJB4gap junction protein beta 4 | Kartais (5–29%) | 1 ligoje |
| GNB1G protein subunit beta 1 | Kartais (5–29%) | 1 ligoje |
| H3-3AH3.3 histone A | Kartais (5–29%) | 1 ligoje |
| H3-3BH3.3 histone B | Kartais (5–29%) | 1 ligoje |
| H4C5H4 clustered histone 5 | Kartais (5–29%) | 1 ligoje |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Kartais (5–29%) | 1 ligoje |
| KATNB1katanin regulatory subunit B1 | Kartais (5–29%) | 1 ligoje |
| KDM1Alysine demethylase 1A | Kartais (5–29%) | 2 ligose |
| KDM5Clysine demethylase 5C | Kartais (5–29%) | 1 ligoje |
| KDSR3-ketodihydrosphingosine reductase | Kartais (5–29%) | 1 ligoje |
| LMNB2lamin B2 | Kartais (5–29%) | 1 ligoje |
| LRRC7leucine rich repeat containing 7 | Kartais (5–29%) | 1 ligoje |
| MAPK1mitogen-activated protein kinase 1 | Kartais (5–29%) | 1 ligoje |
| MAPRE2microtubule associated protein RP/EB family member 2 | Kartais (5–29%) | 1 ligoje |
| ODC1ornithine decarboxylase 1 | Kartais (5–29%) | 1 ligoje |
| PAX1paired box 1 | Kartais (5–29%) | 1 ligoje |
| PRKAR1Bprotein kinase cAMP-dependent type I regulatory subunit beta | Kartais (5–29%) | 1 ligoje |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Kartais (5–29%) | 1 ligoje |
| RNF13ring finger protein 13 | Kartais (5–29%) | 1 ligoje |
| RUNX2RUNX family transcription factor 2 | Kartais (5–29%) | 1 ligoje |
| SIM1SIM bHLH transcription factor 1 | Kartais (5–29%) | 1 ligoje |
| SLC32A1solute carrier family 32 member 1 | Kartais (5–29%) | 1 ligoje |
| SLC4A10solute carrier family 4 member 10 | Kartais (5–29%) | 1 ligoje |
| SLC6A1solute carrier family 6 member 1 | Kartais (5–29%) | 1 ligoje |
| SLC6A11solute carrier family 6 member 11 | Kartais (5–29%) | 1 ligoje |
| SMC1Astructural maintenance of chromosomes 1A | Kartais (5–29%) | 1 ligoje |
| SPENspen family transcriptional repressor | Kartais (5–29%) | 1 ligoje |
| SPOPspeckle type BTB/POZ protein | Kartais (5–29%) | 1 ligoje |
| SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit | Kartais (5–29%) | 1 ligoje |
| SVBPsmall vasohibin binding protein | Kartais (5–29%) | 1 ligoje |
| TELO2telomere maintenance 2 | Kartais (5–29%) | 1 ligoje |
| TRA2Btransformer 2 beta homolog | Kartais (5–29%) | 1 ligoje |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Kartais (5–29%) | 1 ligoje |
| USP9Xubiquitin specific peptidase 9 X-linked | Kartais (5–29%) | 2 ligose |
| ZFXzinc finger protein X-linked | Kartais (5–29%) | 1 ligoje |
| ZMYM2zinc finger MYM-type containing 2 | Kartais (5–29%) | 1 ligoje |
| ACBD6acyl-CoA binding domain containing 6 | Retai (1–4 %) | 1 ligoje |
| CTCFCCCTC-binding factor | Retai (1–4 %) | 1 ligoje |
| EHMT1euchromatic histone lysine methyltransferase 1 | Retai (1–4 %) | 1 ligoje |
| KMT2Clysine methyltransferase 2C | Retai (1–4 %) | 1 ligoje |
| RNU4-2RNA, U4 small nuclear 2 | Retai (1–4 %) | 1 ligoje |
| ARXaristaless related homeobox | Neužfiksuota | 1 ligoje |
| ASXL1ASXL transcriptional regulator 1 | Neužfiksuota | 1 ligoje |
| ATRXATRX chromatin remodeler | Neužfiksuota | 2 ligose |
| BCORL1BCL6 corepressor like 1 | Neužfiksuota | 1 ligoje |
| CDKL5cyclin dependent kinase like 5 | Neužfiksuota | 1 ligoje |
| CHD4chromodomain helicase DNA binding protein 4 | Neužfiksuota | 1 ligoje |
| CPT2carnitine palmitoyltransferase 2 | Neužfiksuota | 1 ligoje |
| CRLF1cytokine receptor like factor 1 | Neužfiksuota | 1 ligoje |
| DOCK3dedicator of cytokinesis 3 | Neužfiksuota | 1 ligoje |
| EXOC6Bexocyst complex component 6B | Neužfiksuota | 1 ligoje |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Neužfiksuota | 1 ligoje |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Neužfiksuota | 1 ligoje |
| KIFBPkinesin family binding protein | Neužfiksuota | 1 ligoje |
| KMT2Elysine methyltransferase 2E (inactive) | Neužfiksuota | 1 ligoje |
| MAGEL2MAGE family member L2 | Neužfiksuota | 1 ligoje |
| MYMKmyomaker, myoblast fusion factor | Neužfiksuota | 1 ligoje |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Neužfiksuota | 1 ligoje |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Neužfiksuota | 1 ligoje |
| SLC12A6solute carrier family 12 member 6 | Neužfiksuota | 1 ligoje |
| SLC25A46solute carrier family 25 member 46 | Neužfiksuota | 1 ligoje |
| SMARCAD1SNF2 related chromatin remodeling ATPase with DExD box 1 | Neužfiksuota | 2 ligose |
| TCF20transcription factor 20 | Neužfiksuota | 1 ligoje |
| TNNT3troponin T3, fast skeletal type | Neužfiksuota | 1 ligoje |
| TP53RKTP53 regulating kinase | Neužfiksuota | 1 ligoje |
| UNC80unc-80 subunit of NALCN channel complex | Neužfiksuota | 1 ligoje |
| ZMIZ1zinc finger MIZ-type containing 1 | 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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- 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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