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Piirre
Dropped arches
Kliininen nimi: 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.
Yhteenveto
- Tunnetaan myös nimellä
- Fallen arches, Flat feet, Flat foot
- Elimistön järjestelmä
- Abnormality of limbs
Dropped archesHP:0001763
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Read the genes linked to Dropped arches, and the rest of your genome, with one test.
Alkaen 449 $Ilmainen toimitus · Tulokset 6–8 viikossa
Tilaa Genome Test397 geeniä, jotka liittyvät piirteeseen Dropped arches
Näiden geenien muutokset aiheuttavat harvinaisia sairauksia, joissa Dropped arches esiintyy. Useimmilla, joilla on tämä piirre, ei ole mitään näistä sairauksista, eikä tämän listan geeni kerro mitään kenenkään omasta genomista.
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| AEBP1AE binding protein 1 | Aina | 2 sairaudessa |
| AMOTL1angiomotin like 1 | Aina | 1 sairaudessa |
| ATCAYATCAY kinesin light chain interacting caytaxin | Aina | 1 sairaudessa |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Aina | 3 sairaudessa |
| CILK1ciliogenesis associated kinase 1 | Aina | 1 sairaudessa |
| COL1A1collagen type I alpha 1 chain | Aina | 2 sairaudessa |
| COL9A3collagen type IX alpha 3 chain | Aina | 1 sairaudessa |
| COMPcartilage oligomeric matrix protein | Aina | 1 sairaudessa |
| CUL7cullin 7 | Aina | 1 sairaudessa |
| EFEMP1EGF-like fibulin extracellular matrix protein 1 | Aina | 1 sairaudessa |
| EGR2early growth response 2 | Aina | 1 sairaudessa |
| ERI1exoribonuclease 1 | Aina | 1 sairaudessa |
| FAM177A1family with sequence similarity 177 member A1 | Aina | 1 sairaudessa |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Aina | 2 sairaudessa |
| FKBP14FKBP prolyl isomerase 14 | Aina | 2 sairaudessa |
| GNPTGN-acetylglucosamine-1-phosphate transferase subunit gamma | Aina | 1 sairaudessa |
| GON4Lgon-4 like | Aina | 1 sairaudessa |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Aina | 1 sairaudessa |
| H4C11H4 clustered histone 11 | Aina | 1 sairaudessa |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Aina | 2 sairaudessa |
| HOXA13homeobox A13 | Aina | 1 sairaudessa |
| JKAMPJNK1/MAPK8 associated membrane protein | Aina | 1 sairaudessa |
| KDM2Blysine demethylase 2B | Aina | 1 sairaudessa |
| KDM6Blysine demethylase 6B | Aina | 1 sairaudessa |
| KMT2Alysine methyltransferase 2A | Aina | 1 sairaudessa |
| L1CAML1 cell adhesion molecule | Aina | 1 sairaudessa |
| MED16mediator complex subunit 16 | Aina | 1 sairaudessa |
| METTL23methyltransferase 23, arginine | Aina | 1 sairaudessa |
| MPV17mitochondrial inner membrane protein MPV17 | Aina | 1 sairaudessa |
| MPZmyelin protein zero | Aina | 2 sairaudessa |
| NDUFAF6NADH:ubiquinone oxidoreductase complex assembly factor 6 | Aina | 1 sairaudessa |
| NONOnon-POU domain containing octamer binding | Aina | 2 sairaudessa |
| PMP22peripheral myelin protein 22 | Aina | 1 sairaudessa |
| PPIBpeptidylprolyl isomerase B | Aina | 1 sairaudessa |
| PRXperiaxin | Aina | 1 sairaudessa |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Aina | 1 sairaudessa |
| PYCR1pyrroline-5-carboxylate reductase 1 | Aina | 3 sairaudessa |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Aina | 1 sairaudessa |
| RBSNrabenosyn, RAB effector | Aina | 1 sairaudessa |
| RIN2Ras and Rab interactor 2 | Aina | 2 sairaudessa |
Näytä 357 geeniä lisää
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| RNU2-2RNA, U2 small nuclear 2 | Aina | 1 sairaudessa |
| SBF1SET binding factor 1 | Aina | 1 sairaudessa |
| SCAF4SR-related CTD associated factor 4 | Aina | 1 sairaudessa |
| SCARF2scavenger receptor class F member 2 | Aina | 1 sairaudessa |
| SLC13A1solute carrier family 13 member 1 | Aina | 1 sairaudessa |
| SLC37A4solute carrier family 37 member 4 | Aina | 1 sairaudessa |
| SPIN4spindlin family member 4 | Aina | 1 sairaudessa |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Aina | 1 sairaudessa |
| TAF4TATA-box binding protein associated factor 4 | Aina | 1 sairaudessa |
| TCF4transcription factor 4 | Aina | 2 sairaudessa |
| TGFBR1transforming growth factor beta receptor 1 | Aina | 3 sairaudessa |
| TMCO1transmembrane and coiled-coil domains 1 | Aina | 1 sairaudessa |
| TRMT1tRNA methyltransferase 1 | Aina | 1 sairaudessa |
| UBAP2Lubiquitin associated protein 2 like | Aina | 1 sairaudessa |
| UBE2Aubiquitin conjugating enzyme E2 A | Aina | 1 sairaudessa |
| UNC13Aunc-13 homolog A | Aina | 1 sairaudessa |
| VLDLRvery low density lipoprotein receptor | Aina | 1 sairaudessa |
| WSB2WD repeat and SOCS box containing 2 | Aina | 1 sairaudessa |
| XYLT2xylosyltransferase 2 | Aina | 2 sairaudessa |
| B4GALT7beta-1,4-galactosyltransferase 7 | Hyvin usein (80–99%) | 2 sairaudessa |
| FBN1fibrillin 1 | Hyvin usein (80–99%) | 4 sairaudessa |
| FMR1fragile X messenger ribonucleoprotein 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| HDAC8histone deacetylase 8 | Hyvin usein (80–99%) | 1 sairaudessa |
| HSPG2heparan sulfate proteoglycan 2 | Hyvin usein (80–99%) | 2 sairaudessa |
| IPO8importin 8 | Hyvin usein (80–99%) | 2 sairaudessa |
| KAT6Alysine acetyltransferase 6A | Hyvin usein (80–99%) | 1 sairaudessa |
| LAS1LLAS1 like ribosome biogenesis factor | Hyvin usein (80–99%) | 2 sairaudessa |
| LMNAlamin A/C | Hyvin usein (80–99%) | 1 sairaudessa |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| SKISKI proto-oncogene | Hyvin usein (80–99%) | 2 sairaudessa |
| SMAD2SMAD family member 2 | Hyvin usein (80–99%) | 3 sairaudessa |
| SMAD3SMAD family member 3 | Hyvin usein (80–99%) | 4 sairaudessa |
| TBL1XR1TBL1X/Y related 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| TGFB2transforming growth factor beta 2 | Hyvin usein (80–99%) | 3 sairaudessa |
| TGFB3transforming growth factor beta 3 | Hyvin usein (80–99%) | 3 sairaudessa |
| TGFBR2transforming growth factor beta receptor 2 | Hyvin usein (80–99%) | 3 sairaudessa |
| ADNPactivity dependent neuroprotector homeobox | Usein (30–79%) | 1 sairaudessa |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Usein (30–79%) | 1 sairaudessa |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Usein (30–79%) | 2 sairaudessa |
| ALMS1ALMS1 centrosome and basal body associated protein | Usein (30–79%) | 2 sairaudessa |
| ARHGAP19Rho GTPase activating protein 19 | Usein (30–79%) | 1 sairaudessa |
| ARXaristaless related homeobox | Usein (30–79%) | 1 sairaudessa |
| ASPHaspartate beta-hydroxylase | Usein (30–79%) | 1 sairaudessa |
| B3GALT6beta-1,3-galactosyltransferase 6 | Usein (30–79%) | 1 sairaudessa |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Usein (30–79%) | 1 sairaudessa |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Usein (30–79%) | 1 sairaudessa |
| BCRBCR activator of RhoGEF and GTPase | Usein (30–79%) | 1 sairaudessa |
| BGNbiglycan | Usein (30–79%) | 1 sairaudessa |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Usein (30–79%) | 1 sairaudessa |
| CDK10cyclin dependent kinase 10 | Usein (30–79%) | 1 sairaudessa |
| CEP152centrosomal protein 152 | Usein (30–79%) | 1 sairaudessa |
| CFL2cofilin 2 | Usein (30–79%) | 1 sairaudessa |
| CHST3carbohydrate sulfotransferase 3 | Usein (30–79%) | 2 sairaudessa |
| CLDN11claudin 11 | Usein (30–79%) | 1 sairaudessa |
| CLIP2CAP-Gly domain containing linker protein 2 | Usein (30–79%) | 1 sairaudessa |
| COL1A2collagen type I alpha 2 chain | Usein (30–79%) | 3 sairaudessa |
| COL27A1collagen type XXVII alpha 1 chain | Usein (30–79%) | 1 sairaudessa |
| COL5A1collagen type V alpha 1 chain | Usein (30–79%) | 3 sairaudessa |
| COL9A1collagen type IX alpha 1 chain | Usein (30–79%) | 1 sairaudessa |
| CRKLCRK like proto-oncogene, adaptor protein | Usein (30–79%) | 1 sairaudessa |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Usein (30–79%) | 1 sairaudessa |
| CTSCcathepsin C | Usein (30–79%) | 2 sairaudessa |
| DACT1dishevelled binding antagonist of beta catenin 1 | Usein (30–79%) | 1 sairaudessa |
| DLG4discs large MAGUK scaffold protein 4 | Usein (30–79%) | 1 sairaudessa |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Usein (30–79%) | 1 sairaudessa |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Usein (30–79%) | 1 sairaudessa |
| DPH1diphthamide biosynthesis 1 | Usein (30–79%) | 2 sairaudessa |
| DPH2diphthamide biosynthesis 2 | Usein (30–79%) | 1 sairaudessa |
| DPM3dolichyl-phosphate mannosyltransferase subunit 3, regulatory | Usein (30–79%) | 1 sairaudessa |
| EIF4Heukaryotic translation initiation factor 4H | Usein (30–79%) | 1 sairaudessa |
| EIF5Aeukaryotic translation initiation factor 5A | Usein (30–79%) | 1 sairaudessa |
| ELNelastin | Usein (30–79%) | 3 sairaudessa |
| EMILIN1elastin microfibril interfacer 1 | Usein (30–79%) | 1 sairaudessa |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Usein (30–79%) | 1 sairaudessa |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Usein (30–79%) | 1 sairaudessa |
| GFPT1glutamine--fructose-6-phosphate transaminase 1 | Usein (30–79%) | 1 sairaudessa |
| GMPPBGDP-mannose pyrophosphorylase B | Usein (30–79%) | 1 sairaudessa |
| GTF2Igeneral transcription factor IIi | Usein (30–79%) | 1 sairaudessa |
| GTF2IRD1GTF2I repeat domain containing 1 | Usein (30–79%) | 1 sairaudessa |
| GTF2IRD2GTF2I repeat domain containing 2 | Usein (30–79%) | 1 sairaudessa |
| GTPBP1GTP binding protein 1 | Usein (30–79%) | 1 sairaudessa |
| GTPBP2GTP binding protein 2 | Usein (30–79%) | 1 sairaudessa |
| HEATR3HEAT repeat containing 3 | Usein (30–79%) | 1 sairaudessa |
| HIVEP2HIVEP zinc finger 2 | Usein (30–79%) | 1 sairaudessa |
| HNRNPH2heterogeneous nuclear ribonucleoprotein H2 | Usein (30–79%) | 1 sairaudessa |
| IQSEC2IQ motif and Sec7 domain ArfGEF 2 | Usein (30–79%) | 1 sairaudessa |
| LIMK1LIM domain kinase 1 | Usein (30–79%) | 1 sairaudessa |
| LMX1BLIM homeobox transcription factor 1 beta | Usein (30–79%) | 2 sairaudessa |
| MAPK1mitogen-activated protein kinase 1 | Usein (30–79%) | 2 sairaudessa |
| MED12mediator complex subunit 12 | Usein (30–79%) | 1 sairaudessa |
| METTL27methyltransferase like 27 | Usein (30–79%) | 1 sairaudessa |
| MTR5-methyltetrahydrofolate-homocysteine methyltransferase | Usein (30–79%) | 1 sairaudessa |
| NCF1neutrophil cytosolic factor 1 | Usein (30–79%) | 1 sairaudessa |
| PMM2phosphomannomutase 2 | Usein (30–79%) | 1 sairaudessa |
| PMPCApeptidase, mitochondrial processing subunit alpha | Usein (30–79%) | 1 sairaudessa |
| PRKG2protein kinase cGMP-dependent 2 | Usein (30–79%) | 1 sairaudessa |
| PROKR2prokineticin receptor 2 | Usein (30–79%) | 2 sairaudessa |
| PRR12proline rich 12 | Usein (30–79%) | 1 sairaudessa |
| PYROXD1pyridine nucleotide-disulphide oxidoreductase domain 1 | Usein (30–79%) | 1 sairaudessa |
| RAI1retinoic acid induced 1 | Usein (30–79%) | 3 sairaudessa |
| RFC2replication factor C subunit 2 | Usein (30–79%) | 1 sairaudessa |
| RPS6KA3ribosomal protein S6 kinase A3 | Usein (30–79%) | 2 sairaudessa |
| RSPRY1ring finger and SPRY domain containing 1 | Usein (30–79%) | 1 sairaudessa |
| RTN2reticulon 2 | Usein (30–79%) | 1 sairaudessa |
| RYR1ryanodine receptor 1 | Usein (30–79%) | 2 sairaudessa |
| SALL1spalt like transcription factor 1 | Usein (30–79%) | 1 sairaudessa |
| SARS1seryl-tRNA synthetase 1 | Usein (30–79%) | 1 sairaudessa |
| SCO2synthesis of cytochrome C oxidase 2 | Usein (30–79%) | 2 sairaudessa |
| SEC23ASEC23 homolog A, COPII component | Usein (30–79%) | 2 sairaudessa |
| SLC16A2solute carrier family 16 member 2 | Usein (30–79%) | 2 sairaudessa |
| SLC29A3solute carrier family 29 member 3 | Usein (30–79%) | 2 sairaudessa |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Usein (30–79%) | 1 sairaudessa |
| SMC5structural maintenance of chromosomes 5 | Usein (30–79%) | 1 sairaudessa |
| STX1Asyntaxin 1A | Usein (30–79%) | 1 sairaudessa |
| TBL2transducin beta like 2 | Usein (30–79%) | 1 sairaudessa |
| TFE3transcription factor binding to IGHM enhancer 3 | Usein (30–79%) | 1 sairaudessa |
| TMEM270transmembrane protein 270 | Usein (30–79%) | 1 sairaudessa |
| TNXBtenascin XB | Usein (30–79%) | 1 sairaudessa |
| TPRtranslocated promoter region, nuclear basket protein | Usein (30–79%) | 1 sairaudessa |
| VPS37DVPS37D subunit of ESCRT-I | Usein (30–79%) | 1 sairaudessa |
| WASF1WASP family member 1 | Usein (30–79%) | 1 sairaudessa |
| XYLT1xylosyltransferase 1 | Usein (30–79%) | 2 sairaudessa |
| ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase | Joskus (5–29%) | 1 sairaudessa |
| ACTA2actin alpha 2, smooth muscle | Joskus (5–29%) | 1 sairaudessa |
| AFF3ALF transcription elongation factor 3 | Joskus (5–29%) | 1 sairaudessa |
| AGAaspartylglucosaminidase | Joskus (5–29%) | 1 sairaudessa |
| AHCYadenosylhomocysteinase | Joskus (5–29%) | 1 sairaudessa |
| AHDC1AT-hook DNA binding motif containing 1 | Joskus (5–29%) | 1 sairaudessa |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Joskus (5–29%) | 1 sairaudessa |
| ANOS1anosmin 1 | Joskus (5–29%) | 1 sairaudessa |
| AP1G1adaptor related protein complex 1 subunit gamma 1 | Joskus (5–29%) | 1 sairaudessa |
| AP4B1adaptor related protein complex 4 subunit beta 1 | Joskus (5–29%) | 2 sairaudessa |
| AP4E1adaptor related protein complex 4 subunit epsilon 1 | Joskus (5–29%) | 1 sairaudessa |
| AP4M1adaptor related protein complex 4 subunit mu 1 | Joskus (5–29%) | 1 sairaudessa |
| AP4S1adaptor related protein complex 4 subunit sigma 1 | Joskus (5–29%) | 1 sairaudessa |
| APC2APC regulator of Wnt signaling pathway 2 | Joskus (5–29%) | 1 sairaudessa |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Joskus (5–29%) | 1 sairaudessa |
| ASXL3ASXL transcriptional regulator 3 | Joskus (5–29%) | 2 sairaudessa |
| ATP6AP2ATPase H+ transporting accessory protein 2 | Joskus (5–29%) | 1 sairaudessa |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Joskus (5–29%) | 2 sairaudessa |
| ATP7AATPase copper transporting alpha | Joskus (5–29%) | 2 sairaudessa |
| BCL11ABCL11 transcription factor A | Joskus (5–29%) | 1 sairaudessa |
| BICD2BICD cargo adaptor 2 | Joskus (5–29%) | 1 sairaudessa |
| BPTFbromodomain PHD finger transcription factor | Joskus (5–29%) | 1 sairaudessa |
| BRCA1BRCA1 DNA repair associated | Joskus (5–29%) | 1 sairaudessa |
| BRCA2BRCA2 DNA repair associated | Joskus (5–29%) | 1 sairaudessa |
| BRF1BRF1 general transcription factor IIIB subunit | Joskus (5–29%) | 1 sairaudessa |
| BRIP1BRCA1 interacting DNA helicase 1 | Joskus (5–29%) | 1 sairaudessa |
| BRWD3bromodomain and WD repeat domain containing 3 | Joskus (5–29%) | 1 sairaudessa |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Joskus (5–29%) | 1 sairaudessa |
| CACHD1cache domain containing 1 | Joskus (5–29%) | 1 sairaudessa |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Joskus (5–29%) | 1 sairaudessa |
| CADM3cell adhesion molecule 3 | Joskus (5–29%) | 1 sairaudessa |
| CBFBcore-binding factor subunit beta | Joskus (5–29%) | 1 sairaudessa |
| CCDC141coiled-coil domain containing 141 | Joskus (5–29%) | 1 sairaudessa |
| CCNKcyclin K | Joskus (5–29%) | 1 sairaudessa |
| CDC42BPBCDC42 binding protein kinase beta | Joskus (5–29%) | 1 sairaudessa |
| CHD7chromodomain helicase DNA binding protein 7 | Joskus (5–29%) | 1 sairaudessa |
| CHD8chromodomain helicase DNA binding protein 8 | Joskus (5–29%) | 1 sairaudessa |
| CICcapicua transcriptional repressor | Joskus (5–29%) | 1 sairaudessa |
| CNOT3CCR4-NOT transcription complex subunit 3 | Joskus (5–29%) | 1 sairaudessa |
| COL12A1collagen type XII alpha 1 chain | Joskus (5–29%) | 1 sairaudessa |
| COL5A2collagen type V alpha 2 chain | Joskus (5–29%) | 1 sairaudessa |
| COPB1coat protein complex I subunit beta 1 | Joskus (5–29%) | 1 sairaudessa |
| CTCFCCCTC-binding factor | Joskus (5–29%) | 1 sairaudessa |
| CUL4Bcullin 4B | Joskus (5–29%) | 1 sairaudessa |
| CWC27CWC27 spliceosome associated cyclophilin | Joskus (5–29%) | 2 sairaudessa |
| DCCDCC netrin 1 receptor | Joskus (5–29%) | 1 sairaudessa |
| DHX30DExH-box helicase 30 | Joskus (5–29%) | 1 sairaudessa |
| DMDdystrophin | Joskus (5–29%) | 1 sairaudessa |
| DPH5diphthamide biosynthesis 5 | Joskus (5–29%) | 1 sairaudessa |
| DUSP6dual specificity phosphatase 6 | Joskus (5–29%) | 1 sairaudessa |
| DYMdymeclin | Joskus (5–29%) | 1 sairaudessa |
| EBF3EBF transcription factor 3 | Joskus (5–29%) | 1 sairaudessa |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Joskus (5–29%) | 1 sairaudessa |
| EHMT1euchromatic histone lysine methyltransferase 1 | Joskus (5–29%) | 1 sairaudessa |
| EIF3Feukaryotic translation initiation factor 3 subunit F | Joskus (5–29%) | 1 sairaudessa |
| EMX2empty spiracles homeobox 2 | Joskus (5–29%) | 1 sairaudessa |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Joskus (5–29%) | 1 sairaudessa |
| FAAP100FA core complex associated protein 100 | Joskus (5–29%) | 1 sairaudessa |
| FANCAFA complementation group A | Joskus (5–29%) | 1 sairaudessa |
| FANCBFA complementation group B | Joskus (5–29%) | 1 sairaudessa |
| FANCCFA complementation group C | Joskus (5–29%) | 1 sairaudessa |
| FANCD2FA complementation group D2 | Joskus (5–29%) | 1 sairaudessa |
| FANCEFA complementation group E | Joskus (5–29%) | 1 sairaudessa |
| FANCFFA complementation group F | Joskus (5–29%) | 1 sairaudessa |
| FANCGFA complementation group G | Joskus (5–29%) | 1 sairaudessa |
| FANCIFA complementation group I | Joskus (5–29%) | 1 sairaudessa |
| FANCLFA complementation group L | Joskus (5–29%) | 1 sairaudessa |
| FANCMFA complementation group M | Joskus (5–29%) | 1 sairaudessa |
| FBXO11F-box protein 11 | Joskus (5–29%) | 1 sairaudessa |
| FBXO22F-box protein 22 | Joskus (5–29%) | 1 sairaudessa |
| FEZF1FEZ family zinc finger 1 | Joskus (5–29%) | 1 sairaudessa |
| FGF17fibroblast growth factor 17 | Joskus (5–29%) | 1 sairaudessa |
| FGF8fibroblast growth factor 8 | Joskus (5–29%) | 1 sairaudessa |
| FGFR1fibroblast growth factor receptor 1 | Joskus (5–29%) | 1 sairaudessa |
| FIBPFGF1 intracellular binding protein | Joskus (5–29%) | 1 sairaudessa |
| FLNAfilamin A | Joskus (5–29%) | 2 sairaudessa |
| FLNBfilamin B | Joskus (5–29%) | 2 sairaudessa |
| FLRT3fibronectin leucine rich transmembrane protein 3 | Joskus (5–29%) | 1 sairaudessa |
| FOXE3forkhead box E3 | Joskus (5–29%) | 1 sairaudessa |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Joskus (5–29%) | 1 sairaudessa |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Joskus (5–29%) | 2 sairaudessa |
| GARS1glycyl-tRNA synthetase 1 | Joskus (5–29%) | 1 sairaudessa |
| GATA4GATA binding protein 4 | Joskus (5–29%) | 1 sairaudessa |
| GDF11growth differentiation factor 11 | Joskus (5–29%) | 1 sairaudessa |
| GNB1G protein subunit beta 1 | Joskus (5–29%) | 1 sairaudessa |
| GORABgolgin, RAB6 interacting | Joskus (5–29%) | 1 sairaudessa |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Joskus (5–29%) | 1 sairaudessa |
| GRIN2Bglutamate ionotropic receptor NMDA type subunit 2B | Joskus (5–29%) | 1 sairaudessa |
| H3-3BH3.3 histone B | Joskus (5–29%) | 1 sairaudessa |
| H4C5H4 clustered histone 5 | Joskus (5–29%) | 1 sairaudessa |
| HESX1HESX homeobox 1 | Joskus (5–29%) | 1 sairaudessa |
| HEY2hes related family bHLH transcription factor with YRPW motif 2 | Joskus (5–29%) | 1 sairaudessa |
| HK1hexokinase 1 | Joskus (5–29%) | 1 sairaudessa |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Joskus (5–29%) | 2 sairaudessa |
| HS6ST1heparan sulfate 6-O-sulfotransferase 1 | Joskus (5–29%) | 1 sairaudessa |
| IFITM5interferon induced transmembrane protein 5 | Joskus (5–29%) | 1 sairaudessa |
| IL17RDinterleukin 17 receptor D | Joskus (5–29%) | 1 sairaudessa |
| JARID2jumonji and AT-rich interaction domain containing 2 | Joskus (5–29%) | 1 sairaudessa |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Joskus (5–29%) | 1 sairaudessa |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Joskus (5–29%) | 1 sairaudessa |
| KDELR2KDEL endoplasmic reticulum protein retention receptor 2 | Joskus (5–29%) | 1 sairaudessa |
| LOXlysyl oxidase | Joskus (5–29%) | 1 sairaudessa |
| LRRC7leucine rich repeat containing 7 | Joskus (5–29%) | 1 sairaudessa |
| MAB21L2mab-21 like 2 | Joskus (5–29%) | 1 sairaudessa |
| MAD2L2mitotic arrest deficient 2 like 2 | Joskus (5–29%) | 1 sairaudessa |
| MAPRE2microtubule associated protein RP/EB family member 2 | Joskus (5–29%) | 1 sairaudessa |
| MAT2Amethionine adenosyltransferase 2A | Joskus (5–29%) | 1 sairaudessa |
| MED12Lmediator complex subunit 12L | Joskus (5–29%) | 1 sairaudessa |
| MFAP5microfibril associated protein 5 | Joskus (5–29%) | 1 sairaudessa |
| MORC2MORC family CW-type zinc finger 2 | Joskus (5–29%) | 1 sairaudessa |
| MTORmechanistic target of rapamycin kinase | Joskus (5–29%) | 1 sairaudessa |
| MYH11myosin heavy chain 11 | Joskus (5–29%) | 1 sairaudessa |
| MYH3myosin heavy chain 3 | Joskus (5–29%) | 1 sairaudessa |
| MYH7myosin heavy chain 7 | Joskus (5–29%) | 1 sairaudessa |
| MYLKmyosin light chain kinase | Joskus (5–29%) | 1 sairaudessa |
| MYPNmyopalladin | Joskus (5–29%) | 1 sairaudessa |
| NAA20N-alpha-acetyltransferase 20, NatB catalytic subunit | Joskus (5–29%) | 1 sairaudessa |
| NDNFneuron derived neurotrophic factor | Joskus (5–29%) | 1 sairaudessa |
| NDST1N-deacetylase and N-sulfotransferase 1 | Joskus (5–29%) | 1 sairaudessa |
| NPR3natriuretic peptide receptor 3 | Joskus (5–29%) | 1 sairaudessa |
| NSD1nuclear receptor binding SET domain protein 1 | Joskus (5–29%) | 2 sairaudessa |
| PACS1phosphofurin acidic cluster sorting protein 1 | Joskus (5–29%) | 2 sairaudessa |
| PALB2partner and localizer of BRCA2 | Joskus (5–29%) | 1 sairaudessa |
| PCDH19protocadherin 19 | Joskus (5–29%) | 1 sairaudessa |
| PDE4Dphosphodiesterase 4D | Joskus (5–29%) | 1 sairaudessa |
| PHF8PHD finger protein 8 | Joskus (5–29%) | 1 sairaudessa |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Joskus (5–29%) | 1 sairaudessa |
| PRDM5PR/SET domain 5 | Joskus (5–29%) | 1 sairaudessa |
| PRKG1protein kinase cGMP-dependent 1 | Joskus (5–29%) | 1 sairaudessa |
| PROK2prokineticin 2 | Joskus (5–29%) | 1 sairaudessa |
| PUF60poly(U) binding splicing factor 60 | Joskus (5–29%) | 2 sairaudessa |
| RAB33BRAB33B, member RAS oncogene family | Joskus (5–29%) | 1 sairaudessa |
| RAD51RAD51 recombinase | Joskus (5–29%) | 1 sairaudessa |
| RAD51CRAD51 paralog C | Joskus (5–29%) | 1 sairaudessa |
| RELREL proto-oncogene, NF-kB subunit | Joskus (5–29%) | 1 sairaudessa |
| RFWD3ring finger and WD repeat domain 3 | Joskus (5–29%) | 1 sairaudessa |
| RNU4-2RNA, U4 small nuclear 2 | Joskus (5–29%) | 1 sairaudessa |
| RNU5B-1RNA, U5B small nuclear 1 | Joskus (5–29%) | 1 sairaudessa |
| SBF2SET binding factor 2 | Joskus (5–29%) | 1 sairaudessa |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Joskus (5–29%) | 2 sairaudessa |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Joskus (5–29%) | 2 sairaudessa |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Joskus (5–29%) | 2 sairaudessa |
| SCN9Asodium voltage-gated channel alpha subunit 9 | Joskus (5–29%) | 2 sairaudessa |
| SELENONselenoprotein N | Joskus (5–29%) | 1 sairaudessa |
| SEMA3Asemaphorin 3A | Joskus (5–29%) | 1 sairaudessa |
| SH3TC2SH3 domain and tetratricopeptide repeats 2 | Joskus (5–29%) | 1 sairaudessa |
| SLC5A7solute carrier family 5 member 7 | Joskus (5–29%) | 1 sairaudessa |
| SLC9A7solute carrier family 9 member A7 | Joskus (5–29%) | 1 sairaudessa |
| SLX4SLX4 structure-specific endonuclease subunit | Joskus (5–29%) | 1 sairaudessa |
| SMAD4SMAD family member 4 | Joskus (5–29%) | 1 sairaudessa |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Joskus (5–29%) | 1 sairaudessa |
| SOX10SRY-box transcription factor 10 | Joskus (5–29%) | 1 sairaudessa |
| SOX5SRY-box transcription factor 5 | Joskus (5–29%) | 1 sairaudessa |
| SOX9SRY-box transcription factor 9 | Joskus (5–29%) | 1 sairaudessa |
| SPENspen family transcriptional repressor | Joskus (5–29%) | 1 sairaudessa |
| SPRED2sprouty related EVH1 domain containing 2 | Joskus (5–29%) | 1 sairaudessa |
| SPRY4sprouty RTK signaling antagonist 4 | Joskus (5–29%) | 1 sairaudessa |
| SYT2synaptotagmin 2 | Joskus (5–29%) | 1 sairaudessa |
| TACR3tachykinin receptor 3 | Joskus (5–29%) | 1 sairaudessa |
| TAOK1TAO kinase 1 | Joskus (5–29%) | 1 sairaudessa |
| TBC1D23TBC1 domain family member 23 | Joskus (5–29%) | 1 sairaudessa |
| TBX4T-box transcription factor 4 | Joskus (5–29%) | 2 sairaudessa |
| TET3tet methylcytosine dioxygenase 3 | Joskus (5–29%) | 1 sairaudessa |
| TGFB1transforming growth factor beta 1 | Joskus (5–29%) | 1 sairaudessa |
| THSD4thrombospondin type 1 domain containing 4 | Joskus (5–29%) | 1 sairaudessa |
| TONSLtonsoku like, DNA repair protein | Joskus (5–29%) | 1 sairaudessa |
| TPM2tropomyosin 2 | Joskus (5–29%) | 2 sairaudessa |
| TPM3tropomyosin 3 | Joskus (5–29%) | 1 sairaudessa |
| TRA2Btransformer 2 beta homolog | Joskus (5–29%) | 1 sairaudessa |
| TRAF7TNF receptor associated factor 7 | Joskus (5–29%) | 1 sairaudessa |
| TRIOtrio Rho guanine nucleotide exchange factor | Joskus (5–29%) | 1 sairaudessa |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Joskus (5–29%) | 1 sairaudessa |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Joskus (5–29%) | 2 sairaudessa |
| TTNtitin | Joskus (5–29%) | 1 sairaudessa |
| UBE2Tubiquitin conjugating enzyme E2 T | Joskus (5–29%) | 1 sairaudessa |
| USP9Xubiquitin specific peptidase 9 X-linked | Joskus (5–29%) | 1 sairaudessa |
| WACWW domain containing adaptor with coiled-coil | Joskus (5–29%) | 1 sairaudessa |
| WBP4WW domain binding protein 4 | Joskus (5–29%) | 1 sairaudessa |
| WDR11WD repeat domain 11 | Joskus (5–29%) | 1 sairaudessa |
| XPO1exportin 1 | Joskus (5–29%) | 1 sairaudessa |
| XRCC2X-ray repair cross complementing 2 | Joskus (5–29%) | 1 sairaudessa |
| ZEB2zinc finger E-box binding homeobox 2 | Joskus (5–29%) | 2 sairaudessa |
| ZNF148zinc finger protein 148 | Joskus (5–29%) | 1 sairaudessa |
| ZNF469zinc finger protein 469 | Joskus (5–29%) | 1 sairaudessa |
| ADGRV1adhesion G protein-coupled receptor V1 | Harvinainen (1–4 %) | 1 sairaudessa |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Harvinainen (1–4 %) | 1 sairaudessa |
| CLCN4Cl-/H+ antiporter 4 | Harvinainen (1–4 %) | 1 sairaudessa |
| CPA6carboxypeptidase A6 | Harvinainen (1–4 %) | 1 sairaudessa |
| FBLN5fibulin 5 | Harvinainen (1–4 %) | 1 sairaudessa |
| FGF13fibroblast growth factor 13 | Harvinainen (1–4 %) | 1 sairaudessa |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Harvinainen (1–4 %) | 1 sairaudessa |
| GJA5gap junction protein alpha 5 | Harvinainen (1–4 %) | 1 sairaudessa |
| GJA8gap junction protein alpha 8 | Harvinainen (1–4 %) | 1 sairaudessa |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| MSL2MSL complex subunit 2 | Harvinainen (1–4 %) | 1 sairaudessa |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Harvinainen (1–4 %) | 2 sairaudessa |
| PRRT2proline rich transmembrane protein 2 | Harvinainen (1–4 %) | 1 sairaudessa |
| PTBP1polypyrimidine tract binding protein 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| SLC10A7solute carrier family 10 member 7 | Harvinainen (1–4 %) | 1 sairaudessa |
| SLC32A1solute carrier family 32 member 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| STX1Bsyntaxin 1B | Harvinainen (1–4 %) | 1 sairaudessa |
| AMMECR1AMMECR nuclear protein 1 | Ei kirjattu | 1 sairaudessa |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Ei kirjattu | 1 sairaudessa |
| ATRATR checkpoint kinase | Ei kirjattu | 1 sairaudessa |
| ATRXATRX chromatin remodeler | Ei kirjattu | 1 sairaudessa |
| C12orf57chromosome 12 open reading frame 57 | Ei kirjattu | 1 sairaudessa |
| CANT1calcium activated nucleotidase 1 | Ei kirjattu | 1 sairaudessa |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Ei kirjattu | 1 sairaudessa |
| COL2A1collagen type II alpha 1 chain | Ei kirjattu | 1 sairaudessa |
| CREBBPCREB binding lysine acetyltransferase | Ei kirjattu | 1 sairaudessa |
| CRLF1cytokine receptor like factor 1 | Ei kirjattu | 1 sairaudessa |
| EP300EP300 lysine acetyltransferase | Ei kirjattu | 1 sairaudessa |
| EXOC6Bexocyst complex component 6B | Ei kirjattu | 1 sairaudessa |
| EXT2exostosin glycosyltransferase 2 | Ei kirjattu | 1 sairaudessa |
| FOXG1forkhead box G1 | Ei kirjattu | 1 sairaudessa |
| GANgigaxonin | Ei kirjattu | 1 sairaudessa |
| GDF5growth differentiation factor 5 | Ei kirjattu | 1 sairaudessa |
| GDF6growth differentiation factor 6 | Ei kirjattu | 1 sairaudessa |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Ei kirjattu | 1 sairaudessa |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Ei kirjattu | 1 sairaudessa |
| MMP2matrix metallopeptidase 2 | Ei kirjattu | 1 sairaudessa |
| PEX6peroxisomal biogenesis factor 6 | Ei kirjattu | 1 sairaudessa |
| RAB7ARAB7A, member RAS oncogene family | Ei kirjattu | 1 sairaudessa |
| RLIMring finger protein, LIM domain interacting | Ei kirjattu | 1 sairaudessa |
| SALL4spalt like transcription factor 4 | Ei kirjattu | 1 sairaudessa |
| SIL1SIL1 nucleotide exchange factor | Ei kirjattu | 1 sairaudessa |
| SLC39A13solute carrier family 39 member 13 | Ei kirjattu | 1 sairaudessa |
| SPRTNSprT-like N-terminal domain | Ei kirjattu | 1 sairaudessa |
| STAG2STAG2 cohesin complex component | Ei kirjattu | 1 sairaudessa |
| TDO2tryptophan 2,3-dioxygenase | Ei kirjattu | 1 sairaudessa |
| TLK2tousled like kinase 2 | Ei kirjattu | 1 sairaudessa |
| TRPS1transcriptional repressor GATA binding 1 | Ei kirjattu | 1 sairaudessa |
| UCHL1ubiquitin C-terminal hydrolase L1 | Ei kirjattu | 1 sairaudessa |
| VPS13Bvacuolar protein sorting 13 homolog B | Ei kirjattu | 1 sairaudessa |
| ZDHHC9zDHHC palmitoyltransferase 9 | Ei kirjattu | 1 sairaudessa |
Kuinka usein ilmiö esiintyy ihmisillä, joilla on jokin geenin sairauksista, niin kuin Human Phenotype Ontology sen kirjaa. Nämä sivut kuvaavat piirteitä ja niiden taustalla olevaa tutkimusta, eivätkä ne ole diagnoosi. Oireista kannattaa kysyä lääkäriltä tai geneettiseltä neuvojalta.
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Mistä tämä tieto tulee
- Human Phenotype Ontology, julkaisu 2026-09-01: piirre, sen nimet, määritelmä ja siihen liitetyt geenit. Lue lisää osoitteesta hpo.jax.org.
- Tietojulkaisu 2026.10.16-c6eea6bf.
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