Požymis
Dropped arches
Klinikinis pavadinimas: Pes planus
A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.
Santrauka
- Taip pat vadinama
- Fallen arches, Flat feet, Flat foot
- Kūno sistema
- Abnormality of limbs
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
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Įsigyti savo Genome Test397 genų susiję su Dropped arches
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Dropped arches. 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 |
|---|---|---|
| AEBP1AE binding protein 1 | Visada | 2 ligose |
| AMOTL1angiomotin like 1 | Visada | 1 ligoje |
| ATCAYATCAY kinesin light chain interacting caytaxin | Visada | 1 ligoje |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Visada | 3 ligose |
| CILK1ciliogenesis associated kinase 1 | Visada | 1 ligoje |
| COL1A1collagen type I alpha 1 chain | Visada | 2 ligose |
| COL9A3collagen type IX alpha 3 chain | Visada | 1 ligoje |
| COMPcartilage oligomeric matrix protein | Visada | 1 ligoje |
| CUL7cullin 7 | Visada | 1 ligoje |
| EFEMP1EGF-like fibulin extracellular matrix protein 1 | Visada | 1 ligoje |
| EGR2early growth response 2 | Visada | 1 ligoje |
| ERI1exoribonuclease 1 | Visada | 1 ligoje |
| FAM177A1family with sequence similarity 177 member A1 | Visada | 1 ligoje |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Visada | 2 ligose |
| FKBP14FKBP prolyl isomerase 14 | Visada | 2 ligose |
| GNPTGN-acetylglucosamine-1-phosphate transferase subunit gamma | Visada | 1 ligoje |
| GON4Lgon-4 like | Visada | 1 ligoje |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Visada | 1 ligoje |
| H4C11H4 clustered histone 11 | Visada | 1 ligoje |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Visada | 2 ligose |
| HOXA13homeobox A13 | Visada | 1 ligoje |
| JKAMPJNK1/MAPK8 associated membrane protein | Visada | 1 ligoje |
| KDM2Blysine demethylase 2B | Visada | 1 ligoje |
| KDM6Blysine demethylase 6B | Visada | 1 ligoje |
| KMT2Alysine methyltransferase 2A | Visada | 1 ligoje |
| L1CAML1 cell adhesion molecule | Visada | 1 ligoje |
| MED16mediator complex subunit 16 | Visada | 1 ligoje |
| METTL23methyltransferase 23, arginine | Visada | 1 ligoje |
| MPV17mitochondrial inner membrane protein MPV17 | Visada | 1 ligoje |
| MPZmyelin protein zero | Visada | 2 ligose |
| NDUFAF6NADH:ubiquinone oxidoreductase complex assembly factor 6 | Visada | 1 ligoje |
| NONOnon-POU domain containing octamer binding | Visada | 2 ligose |
| PMP22peripheral myelin protein 22 | Visada | 1 ligoje |
| PPIBpeptidylprolyl isomerase B | Visada | 1 ligoje |
| PRXperiaxin | Visada | 1 ligoje |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Visada | 1 ligoje |
| PYCR1pyrroline-5-carboxylate reductase 1 | Visada | 3 ligose |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Visada | 1 ligoje |
| RBSNrabenosyn, RAB effector | Visada | 1 ligoje |
| RIN2Ras and Rab interactor 2 | Visada | 2 ligose |
Rodyti dar 357 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| RNU2-2RNA, U2 small nuclear 2 | Visada | 1 ligoje |
| SBF1SET binding factor 1 | Visada | 1 ligoje |
| SCAF4SR-related CTD associated factor 4 | Visada | 1 ligoje |
| SCARF2scavenger receptor class F member 2 | Visada | 1 ligoje |
| SLC13A1solute carrier family 13 member 1 | Visada | 1 ligoje |
| SLC37A4solute carrier family 37 member 4 | Visada | 1 ligoje |
| SPIN4spindlin family member 4 | Visada | 1 ligoje |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Visada | 1 ligoje |
| TAF4TATA-box binding protein associated factor 4 | Visada | 1 ligoje |
| TCF4transcription factor 4 | Visada | 2 ligose |
| TGFBR1transforming growth factor beta receptor 1 | Visada | 3 ligose |
| TMCO1transmembrane and coiled-coil domains 1 | Visada | 1 ligoje |
| TRMT1tRNA methyltransferase 1 | Visada | 1 ligoje |
| UBAP2Lubiquitin associated protein 2 like | Visada | 1 ligoje |
| UBE2Aubiquitin conjugating enzyme E2 A | Visada | 1 ligoje |
| UNC13Aunc-13 homolog A | Visada | 1 ligoje |
| VLDLRvery low density lipoprotein receptor | Visada | 1 ligoje |
| WSB2WD repeat and SOCS box containing 2 | Visada | 1 ligoje |
| XYLT2xylosyltransferase 2 | Visada | 2 ligose |
| B4GALT7beta-1,4-galactosyltransferase 7 | Labai dažnai (80–99%) | 2 ligose |
| FBN1fibrillin 1 | Labai dažnai (80–99%) | 4 ligose |
| FMR1fragile X messenger ribonucleoprotein 1 | Labai dažnai (80–99%) | 2 ligose |
| HDAC8histone deacetylase 8 | Labai dažnai (80–99%) | 1 ligoje |
| HSPG2heparan sulfate proteoglycan 2 | Labai dažnai (80–99%) | 2 ligose |
| IPO8importin 8 | Labai dažnai (80–99%) | 2 ligose |
| KAT6Alysine acetyltransferase 6A | Labai dažnai (80–99%) | 1 ligoje |
| LAS1LLAS1 like ribosome biogenesis factor | Labai dažnai (80–99%) | 2 ligose |
| LMNAlamin A/C | Labai dažnai (80–99%) | 1 ligoje |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Labai dažnai (80–99%) | 1 ligoje |
| SKISKI proto-oncogene | Labai dažnai (80–99%) | 2 ligose |
| SMAD2SMAD family member 2 | Labai dažnai (80–99%) | 3 ligose |
| SMAD3SMAD family member 3 | Labai dažnai (80–99%) | 4 ligose |
| TBL1XR1TBL1X/Y related 1 | Labai dažnai (80–99%) | 1 ligoje |
| TGFB2transforming growth factor beta 2 | Labai dažnai (80–99%) | 3 ligose |
| TGFB3transforming growth factor beta 3 | Labai dažnai (80–99%) | 3 ligose |
| TGFBR2transforming growth factor beta receptor 2 | Labai dažnai (80–99%) | 3 ligose |
| ADNPactivity dependent neuroprotector homeobox | Dažnai (30–79%) | 1 ligoje |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Dažnai (30–79%) | 1 ligoje |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Dažnai (30–79%) | 2 ligose |
| ALMS1ALMS1 centrosome and basal body associated protein | Dažnai (30–79%) | 2 ligose |
| ARHGAP19Rho GTPase activating protein 19 | Dažnai (30–79%) | 1 ligoje |
| ARXaristaless related homeobox | Dažnai (30–79%) | 1 ligoje |
| ASPHaspartate beta-hydroxylase | Dažnai (30–79%) | 1 ligoje |
| B3GALT6beta-1,3-galactosyltransferase 6 | Dažnai (30–79%) | 1 ligoje |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Dažnai (30–79%) | 1 ligoje |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Dažnai (30–79%) | 1 ligoje |
| BCRBCR activator of RhoGEF and GTPase | Dažnai (30–79%) | 1 ligoje |
| BGNbiglycan | Dažnai (30–79%) | 1 ligoje |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Dažnai (30–79%) | 1 ligoje |
| CDK10cyclin dependent kinase 10 | Dažnai (30–79%) | 1 ligoje |
| CEP152centrosomal protein 152 | Dažnai (30–79%) | 1 ligoje |
| CFL2cofilin 2 | Dažnai (30–79%) | 1 ligoje |
| CHST3carbohydrate sulfotransferase 3 | Dažnai (30–79%) | 2 ligose |
| CLDN11claudin 11 | Dažnai (30–79%) | 1 ligoje |
| CLIP2CAP-Gly domain containing linker protein 2 | Dažnai (30–79%) | 1 ligoje |
| COL1A2collagen type I alpha 2 chain | Dažnai (30–79%) | 3 ligose |
| COL27A1collagen type XXVII alpha 1 chain | Dažnai (30–79%) | 1 ligoje |
| COL5A1collagen type V alpha 1 chain | Dažnai (30–79%) | 3 ligose |
| COL9A1collagen type IX alpha 1 chain | Dažnai (30–79%) | 1 ligoje |
| CRKLCRK like proto-oncogene, adaptor protein | Dažnai (30–79%) | 1 ligoje |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Dažnai (30–79%) | 1 ligoje |
| CTSCcathepsin C | Dažnai (30–79%) | 2 ligose |
| DACT1dishevelled binding antagonist of beta catenin 1 | Dažnai (30–79%) | 1 ligoje |
| DLG4discs large MAGUK scaffold protein 4 | Dažnai (30–79%) | 1 ligoje |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Dažnai (30–79%) | 1 ligoje |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Dažnai (30–79%) | 1 ligoje |
| DPH1diphthamide biosynthesis 1 | Dažnai (30–79%) | 2 ligose |
| DPH2diphthamide biosynthesis 2 | Dažnai (30–79%) | 1 ligoje |
| DPM3dolichyl-phosphate mannosyltransferase subunit 3, regulatory | Dažnai (30–79%) | 1 ligoje |
| EIF4Heukaryotic translation initiation factor 4H | Dažnai (30–79%) | 1 ligoje |
| EIF5Aeukaryotic translation initiation factor 5A | Dažnai (30–79%) | 1 ligoje |
| ELNelastin | Dažnai (30–79%) | 3 ligose |
| EMILIN1elastin microfibril interfacer 1 | Dažnai (30–79%) | 1 ligoje |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Dažnai (30–79%) | 1 ligoje |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Dažnai (30–79%) | 1 ligoje |
| GFPT1glutamine--fructose-6-phosphate transaminase 1 | Dažnai (30–79%) | 1 ligoje |
| GMPPBGDP-mannose pyrophosphorylase B | Dažnai (30–79%) | 1 ligoje |
| GTF2Igeneral transcription factor IIi | Dažnai (30–79%) | 1 ligoje |
| GTF2IRD1GTF2I repeat domain containing 1 | Dažnai (30–79%) | 1 ligoje |
| GTF2IRD2GTF2I repeat domain containing 2 | 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 |
| HNRNPH2heterogeneous nuclear ribonucleoprotein H2 | Dažnai (30–79%) | 1 ligoje |
| IQSEC2IQ motif and Sec7 domain ArfGEF 2 | Dažnai (30–79%) | 1 ligoje |
| LIMK1LIM domain kinase 1 | Dažnai (30–79%) | 1 ligoje |
| LMX1BLIM homeobox transcription factor 1 beta | Dažnai (30–79%) | 2 ligose |
| MAPK1mitogen-activated protein kinase 1 | Dažnai (30–79%) | 2 ligose |
| MED12mediator complex subunit 12 | Dažnai (30–79%) | 1 ligoje |
| METTL27methyltransferase like 27 | Dažnai (30–79%) | 1 ligoje |
| MTR5-methyltetrahydrofolate-homocysteine methyltransferase | Dažnai (30–79%) | 1 ligoje |
| NCF1neutrophil cytosolic factor 1 | Dažnai (30–79%) | 1 ligoje |
| PMM2phosphomannomutase 2 | Dažnai (30–79%) | 1 ligoje |
| PMPCApeptidase, mitochondrial processing subunit alpha | Dažnai (30–79%) | 1 ligoje |
| PRKG2protein kinase cGMP-dependent 2 | Dažnai (30–79%) | 1 ligoje |
| PROKR2prokineticin receptor 2 | Dažnai (30–79%) | 2 ligose |
| PRR12proline rich 12 | Dažnai (30–79%) | 1 ligoje |
| PYROXD1pyridine nucleotide-disulphide oxidoreductase domain 1 | Dažnai (30–79%) | 1 ligoje |
| RAI1retinoic acid induced 1 | Dažnai (30–79%) | 3 ligose |
| RFC2replication factor C subunit 2 | Dažnai (30–79%) | 1 ligoje |
| RPS6KA3ribosomal protein S6 kinase A3 | Dažnai (30–79%) | 2 ligose |
| RSPRY1ring finger and SPRY domain containing 1 | Dažnai (30–79%) | 1 ligoje |
| RTN2reticulon 2 | Dažnai (30–79%) | 1 ligoje |
| RYR1ryanodine receptor 1 | Dažnai (30–79%) | 2 ligose |
| SALL1spalt like transcription factor 1 | Dažnai (30–79%) | 1 ligoje |
| SARS1seryl-tRNA synthetase 1 | Dažnai (30–79%) | 1 ligoje |
| SCO2synthesis of cytochrome C oxidase 2 | Dažnai (30–79%) | 2 ligose |
| SEC23ASEC23 homolog A, COPII component | Dažnai (30–79%) | 2 ligose |
| SLC16A2solute carrier family 16 member 2 | Dažnai (30–79%) | 2 ligose |
| SLC29A3solute carrier family 29 member 3 | Dažnai (30–79%) | 2 ligose |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Dažnai (30–79%) | 1 ligoje |
| SMC5structural maintenance of chromosomes 5 | Dažnai (30–79%) | 1 ligoje |
| STX1Asyntaxin 1A | Dažnai (30–79%) | 1 ligoje |
| TBL2transducin beta like 2 | Dažnai (30–79%) | 1 ligoje |
| TFE3transcription factor binding to IGHM enhancer 3 | Dažnai (30–79%) | 1 ligoje |
| TMEM270transmembrane protein 270 | Dažnai (30–79%) | 1 ligoje |
| TNXBtenascin XB | Dažnai (30–79%) | 1 ligoje |
| TPRtranslocated promoter region, nuclear basket protein | Dažnai (30–79%) | 1 ligoje |
| VPS37DVPS37D subunit of ESCRT-I | Dažnai (30–79%) | 1 ligoje |
| WASF1WASP family member 1 | Dažnai (30–79%) | 1 ligoje |
| XYLT1xylosyltransferase 1 | Dažnai (30–79%) | 2 ligose |
| ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase | Kartais (5–29%) | 1 ligoje |
| ACTA2actin alpha 2, smooth muscle | Kartais (5–29%) | 1 ligoje |
| AFF3ALF transcription elongation factor 3 | Kartais (5–29%) | 1 ligoje |
| AGAaspartylglucosaminidase | Kartais (5–29%) | 1 ligoje |
| AHCYadenosylhomocysteinase | Kartais (5–29%) | 1 ligoje |
| AHDC1AT-hook DNA binding motif containing 1 | Kartais (5–29%) | 1 ligoje |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Kartais (5–29%) | 1 ligoje |
| ANOS1anosmin 1 | Kartais (5–29%) | 1 ligoje |
| AP1G1adaptor related protein complex 1 subunit gamma 1 | Kartais (5–29%) | 1 ligoje |
| AP4B1adaptor related protein complex 4 subunit beta 1 | Kartais (5–29%) | 2 ligose |
| AP4E1adaptor related protein complex 4 subunit epsilon 1 | Kartais (5–29%) | 1 ligoje |
| AP4M1adaptor related protein complex 4 subunit mu 1 | Kartais (5–29%) | 1 ligoje |
| AP4S1adaptor related protein complex 4 subunit sigma 1 | Kartais (5–29%) | 1 ligoje |
| APC2APC regulator of Wnt signaling pathway 2 | Kartais (5–29%) | 1 ligoje |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Kartais (5–29%) | 1 ligoje |
| ASXL3ASXL transcriptional regulator 3 | Kartais (5–29%) | 2 ligose |
| ATP6AP2ATPase H+ transporting accessory protein 2 | Kartais (5–29%) | 1 ligoje |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Kartais (5–29%) | 2 ligose |
| ATP7AATPase copper transporting alpha | Kartais (5–29%) | 2 ligose |
| BCL11ABCL11 transcription factor A | Kartais (5–29%) | 1 ligoje |
| BICD2BICD cargo adaptor 2 | Kartais (5–29%) | 1 ligoje |
| BPTFbromodomain PHD finger transcription factor | Kartais (5–29%) | 1 ligoje |
| BRCA1BRCA1 DNA repair associated | Kartais (5–29%) | 1 ligoje |
| BRCA2BRCA2 DNA repair associated | Kartais (5–29%) | 1 ligoje |
| BRF1BRF1 general transcription factor IIIB subunit | Kartais (5–29%) | 1 ligoje |
| BRIP1BRCA1 interacting DNA helicase 1 | Kartais (5–29%) | 1 ligoje |
| BRWD3bromodomain and WD repeat domain containing 3 | Kartais (5–29%) | 1 ligoje |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Kartais (5–29%) | 1 ligoje |
| CACHD1cache domain containing 1 | Kartais (5–29%) | 1 ligoje |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Kartais (5–29%) | 1 ligoje |
| CADM3cell adhesion molecule 3 | Kartais (5–29%) | 1 ligoje |
| CBFBcore-binding factor subunit beta | Kartais (5–29%) | 1 ligoje |
| CCDC141coiled-coil domain containing 141 | Kartais (5–29%) | 1 ligoje |
| CCNKcyclin K | Kartais (5–29%) | 1 ligoje |
| CDC42BPBCDC42 binding protein kinase beta | Kartais (5–29%) | 1 ligoje |
| CHD7chromodomain helicase DNA binding protein 7 | Kartais (5–29%) | 1 ligoje |
| CHD8chromodomain helicase DNA binding protein 8 | Kartais (5–29%) | 1 ligoje |
| CICcapicua transcriptional repressor | 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 |
| COL5A2collagen type V alpha 2 chain | Kartais (5–29%) | 1 ligoje |
| COPB1coat protein complex I subunit beta 1 | Kartais (5–29%) | 1 ligoje |
| CTCFCCCTC-binding factor | Kartais (5–29%) | 1 ligoje |
| CUL4Bcullin 4B | Kartais (5–29%) | 1 ligoje |
| CWC27CWC27 spliceosome associated cyclophilin | Kartais (5–29%) | 2 ligose |
| DCCDCC netrin 1 receptor | Kartais (5–29%) | 1 ligoje |
| DHX30DExH-box helicase 30 | Kartais (5–29%) | 1 ligoje |
| DMDdystrophin | Kartais (5–29%) | 1 ligoje |
| DPH5diphthamide biosynthesis 5 | Kartais (5–29%) | 1 ligoje |
| DUSP6dual specificity phosphatase 6 | Kartais (5–29%) | 1 ligoje |
| DYMdymeclin | Kartais (5–29%) | 1 ligoje |
| EBF3EBF transcription factor 3 | Kartais (5–29%) | 1 ligoje |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Kartais (5–29%) | 1 ligoje |
| EHMT1euchromatic histone lysine methyltransferase 1 | Kartais (5–29%) | 1 ligoje |
| EIF3Feukaryotic translation initiation factor 3 subunit F | Kartais (5–29%) | 1 ligoje |
| EMX2empty spiracles homeobox 2 | Kartais (5–29%) | 1 ligoje |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Kartais (5–29%) | 1 ligoje |
| FAAP100FA core complex associated protein 100 | Kartais (5–29%) | 1 ligoje |
| FANCAFA complementation group A | Kartais (5–29%) | 1 ligoje |
| FANCBFA complementation group B | Kartais (5–29%) | 1 ligoje |
| FANCCFA complementation group C | Kartais (5–29%) | 1 ligoje |
| FANCD2FA complementation group D2 | Kartais (5–29%) | 1 ligoje |
| FANCEFA complementation group E | Kartais (5–29%) | 1 ligoje |
| FANCFFA complementation group F | Kartais (5–29%) | 1 ligoje |
| FANCGFA complementation group G | Kartais (5–29%) | 1 ligoje |
| FANCIFA complementation group I | Kartais (5–29%) | 1 ligoje |
| FANCLFA complementation group L | Kartais (5–29%) | 1 ligoje |
| FANCMFA complementation group M | Kartais (5–29%) | 1 ligoje |
| FBXO11F-box protein 11 | Kartais (5–29%) | 1 ligoje |
| FBXO22F-box protein 22 | Kartais (5–29%) | 1 ligoje |
| FEZF1FEZ family zinc finger 1 | Kartais (5–29%) | 1 ligoje |
| FGF17fibroblast growth factor 17 | Kartais (5–29%) | 1 ligoje |
| FGF8fibroblast growth factor 8 | Kartais (5–29%) | 1 ligoje |
| FGFR1fibroblast growth factor receptor 1 | Kartais (5–29%) | 1 ligoje |
| FIBPFGF1 intracellular binding protein | Kartais (5–29%) | 1 ligoje |
| FLNAfilamin A | Kartais (5–29%) | 2 ligose |
| FLNBfilamin B | Kartais (5–29%) | 2 ligose |
| FLRT3fibronectin leucine rich transmembrane protein 3 | Kartais (5–29%) | 1 ligoje |
| FOXE3forkhead box E3 | Kartais (5–29%) | 1 ligoje |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Kartais (5–29%) | 1 ligoje |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Kartais (5–29%) | 2 ligose |
| GARS1glycyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| GATA4GATA binding protein 4 | Kartais (5–29%) | 1 ligoje |
| GDF11growth differentiation factor 11 | Kartais (5–29%) | 1 ligoje |
| GNB1G protein subunit beta 1 | Kartais (5–29%) | 1 ligoje |
| GORABgolgin, RAB6 interacting | Kartais (5–29%) | 1 ligoje |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Kartais (5–29%) | 1 ligoje |
| GRIN2Bglutamate ionotropic receptor NMDA type subunit 2B | Kartais (5–29%) | 1 ligoje |
| H3-3BH3.3 histone B | Kartais (5–29%) | 1 ligoje |
| H4C5H4 clustered histone 5 | Kartais (5–29%) | 1 ligoje |
| HESX1HESX homeobox 1 | Kartais (5–29%) | 1 ligoje |
| HEY2hes related family bHLH transcription factor with YRPW motif 2 | Kartais (5–29%) | 1 ligoje |
| HK1hexokinase 1 | Kartais (5–29%) | 1 ligoje |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Kartais (5–29%) | 2 ligose |
| HS6ST1heparan sulfate 6-O-sulfotransferase 1 | Kartais (5–29%) | 1 ligoje |
| IFITM5interferon induced transmembrane protein 5 | Kartais (5–29%) | 1 ligoje |
| IL17RDinterleukin 17 receptor D | Kartais (5–29%) | 1 ligoje |
| JARID2jumonji and AT-rich interaction domain containing 2 | Kartais (5–29%) | 1 ligoje |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Kartais (5–29%) | 1 ligoje |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Kartais (5–29%) | 1 ligoje |
| KDELR2KDEL endoplasmic reticulum protein retention receptor 2 | Kartais (5–29%) | 1 ligoje |
| LOXlysyl oxidase | Kartais (5–29%) | 1 ligoje |
| LRRC7leucine rich repeat containing 7 | Kartais (5–29%) | 1 ligoje |
| MAB21L2mab-21 like 2 | Kartais (5–29%) | 1 ligoje |
| MAD2L2mitotic arrest deficient 2 like 2 | Kartais (5–29%) | 1 ligoje |
| MAPRE2microtubule associated protein RP/EB family member 2 | Kartais (5–29%) | 1 ligoje |
| MAT2Amethionine adenosyltransferase 2A | Kartais (5–29%) | 1 ligoje |
| MED12Lmediator complex subunit 12L | Kartais (5–29%) | 1 ligoje |
| MFAP5microfibril associated protein 5 | Kartais (5–29%) | 1 ligoje |
| MORC2MORC family CW-type zinc finger 2 | Kartais (5–29%) | 1 ligoje |
| MTORmechanistic target of rapamycin kinase | Kartais (5–29%) | 1 ligoje |
| MYH11myosin heavy chain 11 | Kartais (5–29%) | 1 ligoje |
| MYH3myosin heavy chain 3 | Kartais (5–29%) | 1 ligoje |
| MYH7myosin heavy chain 7 | Kartais (5–29%) | 1 ligoje |
| MYLKmyosin light chain kinase | Kartais (5–29%) | 1 ligoje |
| MYPNmyopalladin | Kartais (5–29%) | 1 ligoje |
| NAA20N-alpha-acetyltransferase 20, NatB catalytic subunit | Kartais (5–29%) | 1 ligoje |
| NDNFneuron derived neurotrophic factor | Kartais (5–29%) | 1 ligoje |
| NDST1N-deacetylase and N-sulfotransferase 1 | Kartais (5–29%) | 1 ligoje |
| NPR3natriuretic peptide receptor 3 | Kartais (5–29%) | 1 ligoje |
| NSD1nuclear receptor binding SET domain protein 1 | Kartais (5–29%) | 2 ligose |
| PACS1phosphofurin acidic cluster sorting protein 1 | Kartais (5–29%) | 2 ligose |
| PALB2partner and localizer of BRCA2 | Kartais (5–29%) | 1 ligoje |
| PCDH19protocadherin 19 | Kartais (5–29%) | 1 ligoje |
| PDE4Dphosphodiesterase 4D | Kartais (5–29%) | 1 ligoje |
| PHF8PHD finger protein 8 | Kartais (5–29%) | 1 ligoje |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Kartais (5–29%) | 1 ligoje |
| PRDM5PR/SET domain 5 | Kartais (5–29%) | 1 ligoje |
| PRKG1protein kinase cGMP-dependent 1 | Kartais (5–29%) | 1 ligoje |
| PROK2prokineticin 2 | Kartais (5–29%) | 1 ligoje |
| PUF60poly(U) binding splicing factor 60 | Kartais (5–29%) | 2 ligose |
| RAB33BRAB33B, member RAS oncogene family | Kartais (5–29%) | 1 ligoje |
| RAD51RAD51 recombinase | Kartais (5–29%) | 1 ligoje |
| RAD51CRAD51 paralog C | Kartais (5–29%) | 1 ligoje |
| RELREL proto-oncogene, NF-kB subunit | Kartais (5–29%) | 1 ligoje |
| RFWD3ring finger and WD repeat domain 3 | Kartais (5–29%) | 1 ligoje |
| RNU4-2RNA, U4 small nuclear 2 | Kartais (5–29%) | 1 ligoje |
| RNU5B-1RNA, U5B small nuclear 1 | Kartais (5–29%) | 1 ligoje |
| SBF2SET binding factor 2 | Kartais (5–29%) | 1 ligoje |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Kartais (5–29%) | 2 ligose |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Kartais (5–29%) | 2 ligose |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Kartais (5–29%) | 2 ligose |
| SCN9Asodium voltage-gated channel alpha subunit 9 | Kartais (5–29%) | 2 ligose |
| SELENONselenoprotein N | Kartais (5–29%) | 1 ligoje |
| SEMA3Asemaphorin 3A | Kartais (5–29%) | 1 ligoje |
| SH3TC2SH3 domain and tetratricopeptide repeats 2 | Kartais (5–29%) | 1 ligoje |
| SLC5A7solute carrier family 5 member 7 | Kartais (5–29%) | 1 ligoje |
| SLC9A7solute carrier family 9 member A7 | Kartais (5–29%) | 1 ligoje |
| SLX4SLX4 structure-specific endonuclease subunit | Kartais (5–29%) | 1 ligoje |
| SMAD4SMAD family member 4 | Kartais (5–29%) | 1 ligoje |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Kartais (5–29%) | 1 ligoje |
| SOX10SRY-box transcription factor 10 | Kartais (5–29%) | 1 ligoje |
| SOX5SRY-box transcription factor 5 | Kartais (5–29%) | 1 ligoje |
| SOX9SRY-box transcription factor 9 | Kartais (5–29%) | 1 ligoje |
| SPENspen family transcriptional repressor | Kartais (5–29%) | 1 ligoje |
| SPRED2sprouty related EVH1 domain containing 2 | Kartais (5–29%) | 1 ligoje |
| SPRY4sprouty RTK signaling antagonist 4 | Kartais (5–29%) | 1 ligoje |
| SYT2synaptotagmin 2 | Kartais (5–29%) | 1 ligoje |
| TACR3tachykinin receptor 3 | Kartais (5–29%) | 1 ligoje |
| TAOK1TAO kinase 1 | Kartais (5–29%) | 1 ligoje |
| TBC1D23TBC1 domain family member 23 | Kartais (5–29%) | 1 ligoje |
| TBX4T-box transcription factor 4 | Kartais (5–29%) | 2 ligose |
| TET3tet methylcytosine dioxygenase 3 | Kartais (5–29%) | 1 ligoje |
| TGFB1transforming growth factor beta 1 | Kartais (5–29%) | 1 ligoje |
| THSD4thrombospondin type 1 domain containing 4 | Kartais (5–29%) | 1 ligoje |
| TONSLtonsoku like, DNA repair protein | Kartais (5–29%) | 1 ligoje |
| TPM2tropomyosin 2 | Kartais (5–29%) | 2 ligose |
| TPM3tropomyosin 3 | Kartais (5–29%) | 1 ligoje |
| TRA2Btransformer 2 beta homolog | Kartais (5–29%) | 1 ligoje |
| TRAF7TNF receptor associated factor 7 | Kartais (5–29%) | 1 ligoje |
| TRIOtrio Rho guanine nucleotide exchange factor | Kartais (5–29%) | 1 ligoje |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Kartais (5–29%) | 1 ligoje |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Kartais (5–29%) | 2 ligose |
| TTNtitin | Kartais (5–29%) | 1 ligoje |
| UBE2Tubiquitin conjugating enzyme E2 T | Kartais (5–29%) | 1 ligoje |
| USP9Xubiquitin specific peptidase 9 X-linked | Kartais (5–29%) | 1 ligoje |
| WACWW domain containing adaptor with coiled-coil | Kartais (5–29%) | 1 ligoje |
| WBP4WW domain binding protein 4 | Kartais (5–29%) | 1 ligoje |
| WDR11WD repeat domain 11 | Kartais (5–29%) | 1 ligoje |
| XPO1exportin 1 | Kartais (5–29%) | 1 ligoje |
| XRCC2X-ray repair cross complementing 2 | Kartais (5–29%) | 1 ligoje |
| ZEB2zinc finger E-box binding homeobox 2 | Kartais (5–29%) | 2 ligose |
| ZNF148zinc finger protein 148 | Kartais (5–29%) | 1 ligoje |
| ZNF469zinc finger protein 469 | Kartais (5–29%) | 1 ligoje |
| ADGRV1adhesion G protein-coupled receptor V1 | Retai (1–4 %) | 1 ligoje |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Retai (1–4 %) | 1 ligoje |
| CLCN4Cl-/H+ antiporter 4 | Retai (1–4 %) | 1 ligoje |
| CPA6carboxypeptidase A6 | Retai (1–4 %) | 1 ligoje |
| FBLN5fibulin 5 | Retai (1–4 %) | 1 ligoje |
| FGF13fibroblast growth factor 13 | Retai (1–4 %) | 1 ligoje |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Retai (1–4 %) | 1 ligoje |
| GJA5gap junction protein alpha 5 | Retai (1–4 %) | 1 ligoje |
| GJA8gap junction protein alpha 8 | Retai (1–4 %) | 1 ligoje |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Retai (1–4 %) | 1 ligoje |
| MSL2MSL complex subunit 2 | Retai (1–4 %) | 1 ligoje |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Retai (1–4 %) | 2 ligose |
| PRRT2proline rich transmembrane protein 2 | Retai (1–4 %) | 1 ligoje |
| PTBP1polypyrimidine tract binding protein 1 | Retai (1–4 %) | 1 ligoje |
| SLC10A7solute carrier family 10 member 7 | Retai (1–4 %) | 1 ligoje |
| SLC32A1solute carrier family 32 member 1 | Retai (1–4 %) | 1 ligoje |
| STX1Bsyntaxin 1B | Retai (1–4 %) | 1 ligoje |
| AMMECR1AMMECR nuclear protein 1 | Neužfiksuota | 1 ligoje |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Neužfiksuota | 1 ligoje |
| ATRATR checkpoint kinase | Neužfiksuota | 1 ligoje |
| ATRXATRX chromatin remodeler | Neužfiksuota | 1 ligoje |
| C12orf57chromosome 12 open reading frame 57 | Neužfiksuota | 1 ligoje |
| CANT1calcium activated nucleotidase 1 | Neužfiksuota | 1 ligoje |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Neužfiksuota | 1 ligoje |
| COL2A1collagen type II alpha 1 chain | Neužfiksuota | 1 ligoje |
| CREBBPCREB binding lysine acetyltransferase | Neužfiksuota | 1 ligoje |
| CRLF1cytokine receptor like factor 1 | Neužfiksuota | 1 ligoje |
| EP300EP300 lysine acetyltransferase | Neužfiksuota | 1 ligoje |
| EXOC6Bexocyst complex component 6B | Neužfiksuota | 1 ligoje |
| EXT2exostosin glycosyltransferase 2 | Neužfiksuota | 1 ligoje |
| FOXG1forkhead box G1 | Neužfiksuota | 1 ligoje |
| GANgigaxonin | Neužfiksuota | 1 ligoje |
| GDF5growth differentiation factor 5 | Neužfiksuota | 1 ligoje |
| GDF6growth differentiation factor 6 | Neužfiksuota | 1 ligoje |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Neužfiksuota | 1 ligoje |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Neužfiksuota | 1 ligoje |
| MMP2matrix metallopeptidase 2 | Neužfiksuota | 1 ligoje |
| PEX6peroxisomal biogenesis factor 6 | Neužfiksuota | 1 ligoje |
| RAB7ARAB7A, member RAS oncogene family | Neužfiksuota | 1 ligoje |
| RLIMring finger protein, LIM domain interacting | Neužfiksuota | 1 ligoje |
| SALL4spalt like transcription factor 4 | Neužfiksuota | 1 ligoje |
| SIL1SIL1 nucleotide exchange factor | Neužfiksuota | 1 ligoje |
| SLC39A13solute carrier family 39 member 13 | Neužfiksuota | 1 ligoje |
| SPRTNSprT-like N-terminal domain | Neužfiksuota | 1 ligoje |
| STAG2STAG2 cohesin complex component | Neužfiksuota | 1 ligoje |
| TDO2tryptophan 2,3-dioxygenase | Neužfiksuota | 1 ligoje |
| TLK2tousled like kinase 2 | Neužfiksuota | 1 ligoje |
| TRPS1transcriptional repressor GATA binding 1 | Neužfiksuota | 1 ligoje |
| UCHL1ubiquitin C-terminal hydrolase L1 | Neužfiksuota | 1 ligoje |
| VPS13Bvacuolar protein sorting 13 homolog B | Neužfiksuota | 1 ligoje |
| ZDHHC9zDHHC palmitoyltransferase 9 | 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.
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