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Egenskap
Dropped arches
Klinisk navn: 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.
Sammendrag
- Også kalt
- Fallen arches, Flat feet, Flat foot
- Kroppssystem
- 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.
Fra 449 $Gratis frakt · Resultater på 6–8 uker
Få mitt Genome Test397 gener knyttet til Dropped arches
Endringer i disse genene forårsaker sjeldne tilstander der Dropped arches forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| AEBP1AE binding protein 1 | Alltid | I 2 tilstander |
| AMOTL1angiomotin like 1 | Alltid | I 1 tilstand |
| ATCAYATCAY kinesin light chain interacting caytaxin | Alltid | I 1 tilstand |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Alltid | I 3 tilstander |
| CILK1ciliogenesis associated kinase 1 | Alltid | I 1 tilstand |
| COL1A1collagen type I alpha 1 chain | Alltid | I 2 tilstander |
| COL9A3collagen type IX alpha 3 chain | Alltid | I 1 tilstand |
| COMPcartilage oligomeric matrix protein | Alltid | I 1 tilstand |
| CUL7cullin 7 | Alltid | I 1 tilstand |
| EFEMP1EGF-like fibulin extracellular matrix protein 1 | Alltid | I 1 tilstand |
| EGR2early growth response 2 | Alltid | I 1 tilstand |
| ERI1exoribonuclease 1 | Alltid | I 1 tilstand |
| FAM177A1family with sequence similarity 177 member A1 | Alltid | I 1 tilstand |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Alltid | I 2 tilstander |
| FKBP14FKBP prolyl isomerase 14 | Alltid | I 2 tilstander |
| GNPTGN-acetylglucosamine-1-phosphate transferase subunit gamma | Alltid | I 1 tilstand |
| GON4Lgon-4 like | Alltid | I 1 tilstand |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Alltid | I 1 tilstand |
| H4C11H4 clustered histone 11 | Alltid | I 1 tilstand |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Alltid | I 2 tilstander |
| HOXA13homeobox A13 | Alltid | I 1 tilstand |
| JKAMPJNK1/MAPK8 associated membrane protein | Alltid | I 1 tilstand |
| KDM2Blysine demethylase 2B | Alltid | I 1 tilstand |
| KDM6Blysine demethylase 6B | Alltid | I 1 tilstand |
| KMT2Alysine methyltransferase 2A | Alltid | I 1 tilstand |
| L1CAML1 cell adhesion molecule | Alltid | I 1 tilstand |
| MED16mediator complex subunit 16 | Alltid | I 1 tilstand |
| METTL23methyltransferase 23, arginine | Alltid | I 1 tilstand |
| MPV17mitochondrial inner membrane protein MPV17 | Alltid | I 1 tilstand |
| MPZmyelin protein zero | Alltid | I 2 tilstander |
| NDUFAF6NADH:ubiquinone oxidoreductase complex assembly factor 6 | Alltid | I 1 tilstand |
| NONOnon-POU domain containing octamer binding | Alltid | I 2 tilstander |
| PMP22peripheral myelin protein 22 | Alltid | I 1 tilstand |
| PPIBpeptidylprolyl isomerase B | Alltid | I 1 tilstand |
| PRXperiaxin | Alltid | I 1 tilstand |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Alltid | I 1 tilstand |
| PYCR1pyrroline-5-carboxylate reductase 1 | Alltid | I 3 tilstander |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Alltid | I 1 tilstand |
| RBSNrabenosyn, RAB effector | Alltid | I 1 tilstand |
| RIN2Ras and Rab interactor 2 | Alltid | I 2 tilstander |
Vis 357 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| RNU2-2RNA, U2 small nuclear 2 | Alltid | I 1 tilstand |
| SBF1SET binding factor 1 | Alltid | I 1 tilstand |
| SCAF4SR-related CTD associated factor 4 | Alltid | I 1 tilstand |
| SCARF2scavenger receptor class F member 2 | Alltid | I 1 tilstand |
| SLC13A1solute carrier family 13 member 1 | Alltid | I 1 tilstand |
| SLC37A4solute carrier family 37 member 4 | Alltid | I 1 tilstand |
| SPIN4spindlin family member 4 | Alltid | I 1 tilstand |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Alltid | I 1 tilstand |
| TAF4TATA-box binding protein associated factor 4 | Alltid | I 1 tilstand |
| TCF4transcription factor 4 | Alltid | I 2 tilstander |
| TGFBR1transforming growth factor beta receptor 1 | Alltid | I 3 tilstander |
| TMCO1transmembrane and coiled-coil domains 1 | Alltid | I 1 tilstand |
| TRMT1tRNA methyltransferase 1 | Alltid | I 1 tilstand |
| UBAP2Lubiquitin associated protein 2 like | Alltid | I 1 tilstand |
| UBE2Aubiquitin conjugating enzyme E2 A | Alltid | I 1 tilstand |
| UNC13Aunc-13 homolog A | Alltid | I 1 tilstand |
| VLDLRvery low density lipoprotein receptor | Alltid | I 1 tilstand |
| WSB2WD repeat and SOCS box containing 2 | Alltid | I 1 tilstand |
| XYLT2xylosyltransferase 2 | Alltid | I 2 tilstander |
| B4GALT7beta-1,4-galactosyltransferase 7 | Svært ofte (80–99 %) | I 2 tilstander |
| FBN1fibrillin 1 | Svært ofte (80–99 %) | I 4 tilstander |
| FMR1fragile X messenger ribonucleoprotein 1 | Svært ofte (80–99 %) | I 2 tilstander |
| HDAC8histone deacetylase 8 | Svært ofte (80–99 %) | I 1 tilstand |
| HSPG2heparan sulfate proteoglycan 2 | Svært ofte (80–99 %) | I 2 tilstander |
| IPO8importin 8 | Svært ofte (80–99 %) | I 2 tilstander |
| KAT6Alysine acetyltransferase 6A | Svært ofte (80–99 %) | I 1 tilstand |
| LAS1LLAS1 like ribosome biogenesis factor | Svært ofte (80–99 %) | I 2 tilstander |
| LMNAlamin A/C | Svært ofte (80–99 %) | I 1 tilstand |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Svært ofte (80–99 %) | I 1 tilstand |
| SKISKI proto-oncogene | Svært ofte (80–99 %) | I 2 tilstander |
| SMAD2SMAD family member 2 | Svært ofte (80–99 %) | I 3 tilstander |
| SMAD3SMAD family member 3 | Svært ofte (80–99 %) | I 4 tilstander |
| TBL1XR1TBL1X/Y related 1 | Svært ofte (80–99 %) | I 1 tilstand |
| TGFB2transforming growth factor beta 2 | Svært ofte (80–99 %) | I 3 tilstander |
| TGFB3transforming growth factor beta 3 | Svært ofte (80–99 %) | I 3 tilstander |
| TGFBR2transforming growth factor beta receptor 2 | Svært ofte (80–99 %) | I 3 tilstander |
| ADNPactivity dependent neuroprotector homeobox | Ofte (30–79 %) | I 1 tilstand |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Ofte (30–79 %) | I 1 tilstand |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Ofte (30–79 %) | I 2 tilstander |
| ALMS1ALMS1 centrosome and basal body associated protein | Ofte (30–79 %) | I 2 tilstander |
| ARHGAP19Rho GTPase activating protein 19 | Ofte (30–79 %) | I 1 tilstand |
| ARXaristaless related homeobox | Ofte (30–79 %) | I 1 tilstand |
| ASPHaspartate beta-hydroxylase | Ofte (30–79 %) | I 1 tilstand |
| B3GALT6beta-1,3-galactosyltransferase 6 | Ofte (30–79 %) | I 1 tilstand |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Ofte (30–79 %) | I 1 tilstand |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Ofte (30–79 %) | I 1 tilstand |
| BCRBCR activator of RhoGEF and GTPase | Ofte (30–79 %) | I 1 tilstand |
| BGNbiglycan | Ofte (30–79 %) | I 1 tilstand |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Ofte (30–79 %) | I 1 tilstand |
| CDK10cyclin dependent kinase 10 | Ofte (30–79 %) | I 1 tilstand |
| CEP152centrosomal protein 152 | Ofte (30–79 %) | I 1 tilstand |
| CFL2cofilin 2 | Ofte (30–79 %) | I 1 tilstand |
| CHST3carbohydrate sulfotransferase 3 | Ofte (30–79 %) | I 2 tilstander |
| CLDN11claudin 11 | Ofte (30–79 %) | I 1 tilstand |
| CLIP2CAP-Gly domain containing linker protein 2 | Ofte (30–79 %) | I 1 tilstand |
| COL1A2collagen type I alpha 2 chain | Ofte (30–79 %) | I 3 tilstander |
| COL27A1collagen type XXVII alpha 1 chain | Ofte (30–79 %) | I 1 tilstand |
| COL5A1collagen type V alpha 1 chain | Ofte (30–79 %) | I 3 tilstander |
| COL9A1collagen type IX alpha 1 chain | Ofte (30–79 %) | I 1 tilstand |
| CRKLCRK like proto-oncogene, adaptor protein | Ofte (30–79 %) | I 1 tilstand |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| CTSCcathepsin C | Ofte (30–79 %) | I 2 tilstander |
| DACT1dishevelled binding antagonist of beta catenin 1 | Ofte (30–79 %) | I 1 tilstand |
| DLG4discs large MAGUK scaffold protein 4 | Ofte (30–79 %) | I 1 tilstand |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Ofte (30–79 %) | I 1 tilstand |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| DPH1diphthamide biosynthesis 1 | Ofte (30–79 %) | I 2 tilstander |
| DPH2diphthamide biosynthesis 2 | Ofte (30–79 %) | I 1 tilstand |
| DPM3dolichyl-phosphate mannosyltransferase subunit 3, regulatory | Ofte (30–79 %) | I 1 tilstand |
| EIF4Heukaryotic translation initiation factor 4H | Ofte (30–79 %) | I 1 tilstand |
| EIF5Aeukaryotic translation initiation factor 5A | Ofte (30–79 %) | I 1 tilstand |
| ELNelastin | Ofte (30–79 %) | I 3 tilstander |
| EMILIN1elastin microfibril interfacer 1 | Ofte (30–79 %) | I 1 tilstand |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Ofte (30–79 %) | I 1 tilstand |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Ofte (30–79 %) | I 1 tilstand |
| GFPT1glutamine--fructose-6-phosphate transaminase 1 | Ofte (30–79 %) | I 1 tilstand |
| GMPPBGDP-mannose pyrophosphorylase B | Ofte (30–79 %) | I 1 tilstand |
| GTF2Igeneral transcription factor IIi | Ofte (30–79 %) | I 1 tilstand |
| GTF2IRD1GTF2I repeat domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| GTF2IRD2GTF2I repeat domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| GTPBP1GTP binding protein 1 | Ofte (30–79 %) | I 1 tilstand |
| GTPBP2GTP binding protein 2 | Ofte (30–79 %) | I 1 tilstand |
| HEATR3HEAT repeat containing 3 | Ofte (30–79 %) | I 1 tilstand |
| HIVEP2HIVEP zinc finger 2 | Ofte (30–79 %) | I 1 tilstand |
| HNRNPH2heterogeneous nuclear ribonucleoprotein H2 | Ofte (30–79 %) | I 1 tilstand |
| IQSEC2IQ motif and Sec7 domain ArfGEF 2 | Ofte (30–79 %) | I 1 tilstand |
| LIMK1LIM domain kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| LMX1BLIM homeobox transcription factor 1 beta | Ofte (30–79 %) | I 2 tilstander |
| MAPK1mitogen-activated protein kinase 1 | Ofte (30–79 %) | I 2 tilstander |
| MED12mediator complex subunit 12 | Ofte (30–79 %) | I 1 tilstand |
| METTL27methyltransferase like 27 | Ofte (30–79 %) | I 1 tilstand |
| MTR5-methyltetrahydrofolate-homocysteine methyltransferase | Ofte (30–79 %) | I 1 tilstand |
| NCF1neutrophil cytosolic factor 1 | Ofte (30–79 %) | I 1 tilstand |
| PMM2phosphomannomutase 2 | Ofte (30–79 %) | I 1 tilstand |
| PMPCApeptidase, mitochondrial processing subunit alpha | Ofte (30–79 %) | I 1 tilstand |
| PRKG2protein kinase cGMP-dependent 2 | Ofte (30–79 %) | I 1 tilstand |
| PROKR2prokineticin receptor 2 | Ofte (30–79 %) | I 2 tilstander |
| PRR12proline rich 12 | Ofte (30–79 %) | I 1 tilstand |
| PYROXD1pyridine nucleotide-disulphide oxidoreductase domain 1 | Ofte (30–79 %) | I 1 tilstand |
| RAI1retinoic acid induced 1 | Ofte (30–79 %) | I 3 tilstander |
| RFC2replication factor C subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| RPS6KA3ribosomal protein S6 kinase A3 | Ofte (30–79 %) | I 2 tilstander |
| RSPRY1ring finger and SPRY domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| RTN2reticulon 2 | Ofte (30–79 %) | I 1 tilstand |
| RYR1ryanodine receptor 1 | Ofte (30–79 %) | I 2 tilstander |
| SALL1spalt like transcription factor 1 | Ofte (30–79 %) | I 1 tilstand |
| SARS1seryl-tRNA synthetase 1 | Ofte (30–79 %) | I 1 tilstand |
| SCO2synthesis of cytochrome C oxidase 2 | Ofte (30–79 %) | I 2 tilstander |
| SEC23ASEC23 homolog A, COPII component | Ofte (30–79 %) | I 2 tilstander |
| SLC16A2solute carrier family 16 member 2 | Ofte (30–79 %) | I 2 tilstander |
| SLC29A3solute carrier family 29 member 3 | Ofte (30–79 %) | I 2 tilstander |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Ofte (30–79 %) | I 1 tilstand |
| SMC5structural maintenance of chromosomes 5 | Ofte (30–79 %) | I 1 tilstand |
| STX1Asyntaxin 1A | Ofte (30–79 %) | I 1 tilstand |
| TBL2transducin beta like 2 | Ofte (30–79 %) | I 1 tilstand |
| TFE3transcription factor binding to IGHM enhancer 3 | Ofte (30–79 %) | I 1 tilstand |
| TMEM270transmembrane protein 270 | Ofte (30–79 %) | I 1 tilstand |
| TNXBtenascin XB | Ofte (30–79 %) | I 1 tilstand |
| TPRtranslocated promoter region, nuclear basket protein | Ofte (30–79 %) | I 1 tilstand |
| VPS37DVPS37D subunit of ESCRT-I | Ofte (30–79 %) | I 1 tilstand |
| WASF1WASP family member 1 | Ofte (30–79 %) | I 1 tilstand |
| XYLT1xylosyltransferase 1 | Ofte (30–79 %) | I 2 tilstander |
| ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase | Noen ganger (5–29 %) | I 1 tilstand |
| ACTA2actin alpha 2, smooth muscle | Noen ganger (5–29 %) | I 1 tilstand |
| AFF3ALF transcription elongation factor 3 | Noen ganger (5–29 %) | I 1 tilstand |
| AGAaspartylglucosaminidase | Noen ganger (5–29 %) | I 1 tilstand |
| AHCYadenosylhomocysteinase | Noen ganger (5–29 %) | I 1 tilstand |
| AHDC1AT-hook DNA binding motif containing 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Noen ganger (5–29 %) | I 1 tilstand |
| ANOS1anosmin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| AP1G1adaptor related protein complex 1 subunit gamma 1 | Noen ganger (5–29 %) | I 1 tilstand |
| AP4B1adaptor related protein complex 4 subunit beta 1 | Noen ganger (5–29 %) | I 2 tilstander |
| AP4E1adaptor related protein complex 4 subunit epsilon 1 | Noen ganger (5–29 %) | I 1 tilstand |
| AP4M1adaptor related protein complex 4 subunit mu 1 | Noen ganger (5–29 %) | I 1 tilstand |
| AP4S1adaptor related protein complex 4 subunit sigma 1 | Noen ganger (5–29 %) | I 1 tilstand |
| APC2APC regulator of Wnt signaling pathway 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Noen ganger (5–29 %) | I 1 tilstand |
| ASXL3ASXL transcriptional regulator 3 | Noen ganger (5–29 %) | I 2 tilstander |
| ATP6AP2ATPase H+ transporting accessory protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Noen ganger (5–29 %) | I 2 tilstander |
| ATP7AATPase copper transporting alpha | Noen ganger (5–29 %) | I 2 tilstander |
| BCL11ABCL11 transcription factor A | Noen ganger (5–29 %) | I 1 tilstand |
| BICD2BICD cargo adaptor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| BPTFbromodomain PHD finger transcription factor | Noen ganger (5–29 %) | I 1 tilstand |
| BRCA1BRCA1 DNA repair associated | Noen ganger (5–29 %) | I 1 tilstand |
| BRCA2BRCA2 DNA repair associated | Noen ganger (5–29 %) | I 1 tilstand |
| BRF1BRF1 general transcription factor IIIB subunit | Noen ganger (5–29 %) | I 1 tilstand |
| BRIP1BRCA1 interacting DNA helicase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| BRWD3bromodomain and WD repeat domain containing 3 | Noen ganger (5–29 %) | I 1 tilstand |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Noen ganger (5–29 %) | I 1 tilstand |
| CACHD1cache domain containing 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Noen ganger (5–29 %) | I 1 tilstand |
| CADM3cell adhesion molecule 3 | Noen ganger (5–29 %) | I 1 tilstand |
| CBFBcore-binding factor subunit beta | Noen ganger (5–29 %) | I 1 tilstand |
| CCDC141coiled-coil domain containing 141 | Noen ganger (5–29 %) | I 1 tilstand |
| CCNKcyclin K | Noen ganger (5–29 %) | I 1 tilstand |
| CDC42BPBCDC42 binding protein kinase beta | Noen ganger (5–29 %) | I 1 tilstand |
| CHD7chromodomain helicase DNA binding protein 7 | Noen ganger (5–29 %) | I 1 tilstand |
| CHD8chromodomain helicase DNA binding protein 8 | Noen ganger (5–29 %) | I 1 tilstand |
| CICcapicua transcriptional repressor | Noen ganger (5–29 %) | I 1 tilstand |
| CNOT3CCR4-NOT transcription complex subunit 3 | Noen ganger (5–29 %) | I 1 tilstand |
| COL12A1collagen type XII alpha 1 chain | Noen ganger (5–29 %) | I 1 tilstand |
| COL5A2collagen type V alpha 2 chain | Noen ganger (5–29 %) | I 1 tilstand |
| COPB1coat protein complex I subunit beta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CTCFCCCTC-binding factor | Noen ganger (5–29 %) | I 1 tilstand |
| CUL4Bcullin 4B | Noen ganger (5–29 %) | I 1 tilstand |
| CWC27CWC27 spliceosome associated cyclophilin | Noen ganger (5–29 %) | I 2 tilstander |
| DCCDCC netrin 1 receptor | Noen ganger (5–29 %) | I 1 tilstand |
| DHX30DExH-box helicase 30 | Noen ganger (5–29 %) | I 1 tilstand |
| DMDdystrophin | Noen ganger (5–29 %) | I 1 tilstand |
| DPH5diphthamide biosynthesis 5 | Noen ganger (5–29 %) | I 1 tilstand |
| DUSP6dual specificity phosphatase 6 | Noen ganger (5–29 %) | I 1 tilstand |
| DYMdymeclin | Noen ganger (5–29 %) | I 1 tilstand |
| EBF3EBF transcription factor 3 | Noen ganger (5–29 %) | I 1 tilstand |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| EHMT1euchromatic histone lysine methyltransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| EIF3Feukaryotic translation initiation factor 3 subunit F | Noen ganger (5–29 %) | I 1 tilstand |
| EMX2empty spiracles homeobox 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| FAAP100FA core complex associated protein 100 | Noen ganger (5–29 %) | I 1 tilstand |
| FANCAFA complementation group A | Noen ganger (5–29 %) | I 1 tilstand |
| FANCBFA complementation group B | Noen ganger (5–29 %) | I 1 tilstand |
| FANCCFA complementation group C | Noen ganger (5–29 %) | I 1 tilstand |
| FANCD2FA complementation group D2 | Noen ganger (5–29 %) | I 1 tilstand |
| FANCEFA complementation group E | Noen ganger (5–29 %) | I 1 tilstand |
| FANCFFA complementation group F | Noen ganger (5–29 %) | I 1 tilstand |
| FANCGFA complementation group G | Noen ganger (5–29 %) | I 1 tilstand |
| FANCIFA complementation group I | Noen ganger (5–29 %) | I 1 tilstand |
| FANCLFA complementation group L | Noen ganger (5–29 %) | I 1 tilstand |
| FANCMFA complementation group M | Noen ganger (5–29 %) | I 1 tilstand |
| FBXO11F-box protein 11 | Noen ganger (5–29 %) | I 1 tilstand |
| FBXO22F-box protein 22 | Noen ganger (5–29 %) | I 1 tilstand |
| FEZF1FEZ family zinc finger 1 | Noen ganger (5–29 %) | I 1 tilstand |
| FGF17fibroblast growth factor 17 | Noen ganger (5–29 %) | I 1 tilstand |
| FGF8fibroblast growth factor 8 | Noen ganger (5–29 %) | I 1 tilstand |
| FGFR1fibroblast growth factor receptor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| FIBPFGF1 intracellular binding protein | Noen ganger (5–29 %) | I 1 tilstand |
| FLNAfilamin A | Noen ganger (5–29 %) | I 2 tilstander |
| FLNBfilamin B | Noen ganger (5–29 %) | I 2 tilstander |
| FLRT3fibronectin leucine rich transmembrane protein 3 | Noen ganger (5–29 %) | I 1 tilstand |
| FOXE3forkhead box E3 | Noen ganger (5–29 %) | I 1 tilstand |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Noen ganger (5–29 %) | I 1 tilstand |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Noen ganger (5–29 %) | I 2 tilstander |
| GARS1glycyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GATA4GATA binding protein 4 | Noen ganger (5–29 %) | I 1 tilstand |
| GDF11growth differentiation factor 11 | Noen ganger (5–29 %) | I 1 tilstand |
| GNB1G protein subunit beta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GORABgolgin, RAB6 interacting | Noen ganger (5–29 %) | I 1 tilstand |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Noen ganger (5–29 %) | I 1 tilstand |
| GRIN2Bglutamate ionotropic receptor NMDA type subunit 2B | Noen ganger (5–29 %) | I 1 tilstand |
| H3-3BH3.3 histone B | Noen ganger (5–29 %) | I 1 tilstand |
| H4C5H4 clustered histone 5 | Noen ganger (5–29 %) | I 1 tilstand |
| HESX1HESX homeobox 1 | Noen ganger (5–29 %) | I 1 tilstand |
| HEY2hes related family bHLH transcription factor with YRPW motif 2 | Noen ganger (5–29 %) | I 1 tilstand |
| HK1hexokinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Noen ganger (5–29 %) | I 2 tilstander |
| HS6ST1heparan sulfate 6-O-sulfotransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| IFITM5interferon induced transmembrane protein 5 | Noen ganger (5–29 %) | I 1 tilstand |
| IL17RDinterleukin 17 receptor D | Noen ganger (5–29 %) | I 1 tilstand |
| JARID2jumonji and AT-rich interaction domain containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Noen ganger (5–29 %) | I 1 tilstand |
| KDELR2KDEL endoplasmic reticulum protein retention receptor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| LOXlysyl oxidase | Noen ganger (5–29 %) | I 1 tilstand |
| LRRC7leucine rich repeat containing 7 | Noen ganger (5–29 %) | I 1 tilstand |
| MAB21L2mab-21 like 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MAD2L2mitotic arrest deficient 2 like 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MAPRE2microtubule associated protein RP/EB family member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MAT2Amethionine adenosyltransferase 2A | Noen ganger (5–29 %) | I 1 tilstand |
| MED12Lmediator complex subunit 12L | Noen ganger (5–29 %) | I 1 tilstand |
| MFAP5microfibril associated protein 5 | Noen ganger (5–29 %) | I 1 tilstand |
| MORC2MORC family CW-type zinc finger 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MTORmechanistic target of rapamycin kinase | Noen ganger (5–29 %) | I 1 tilstand |
| MYH11myosin heavy chain 11 | Noen ganger (5–29 %) | I 1 tilstand |
| MYH3myosin heavy chain 3 | Noen ganger (5–29 %) | I 1 tilstand |
| MYH7myosin heavy chain 7 | Noen ganger (5–29 %) | I 1 tilstand |
| MYLKmyosin light chain kinase | Noen ganger (5–29 %) | I 1 tilstand |
| MYPNmyopalladin | Noen ganger (5–29 %) | I 1 tilstand |
| NAA20N-alpha-acetyltransferase 20, NatB catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| NDNFneuron derived neurotrophic factor | Noen ganger (5–29 %) | I 1 tilstand |
| NDST1N-deacetylase and N-sulfotransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NPR3natriuretic peptide receptor 3 | Noen ganger (5–29 %) | I 1 tilstand |
| NSD1nuclear receptor binding SET domain protein 1 | Noen ganger (5–29 %) | I 2 tilstander |
| PACS1phosphofurin acidic cluster sorting protein 1 | Noen ganger (5–29 %) | I 2 tilstander |
| PALB2partner and localizer of BRCA2 | Noen ganger (5–29 %) | I 1 tilstand |
| PCDH19protocadherin 19 | Noen ganger (5–29 %) | I 1 tilstand |
| PDE4Dphosphodiesterase 4D | Noen ganger (5–29 %) | I 1 tilstand |
| PHF8PHD finger protein 8 | Noen ganger (5–29 %) | I 1 tilstand |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Noen ganger (5–29 %) | I 1 tilstand |
| PRDM5PR/SET domain 5 | Noen ganger (5–29 %) | I 1 tilstand |
| PRKG1protein kinase cGMP-dependent 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PROK2prokineticin 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PUF60poly(U) binding splicing factor 60 | Noen ganger (5–29 %) | I 2 tilstander |
| RAB33BRAB33B, member RAS oncogene family | Noen ganger (5–29 %) | I 1 tilstand |
| RAD51RAD51 recombinase | Noen ganger (5–29 %) | I 1 tilstand |
| RAD51CRAD51 paralog C | Noen ganger (5–29 %) | I 1 tilstand |
| RELREL proto-oncogene, NF-kB subunit | Noen ganger (5–29 %) | I 1 tilstand |
| RFWD3ring finger and WD repeat domain 3 | Noen ganger (5–29 %) | I 1 tilstand |
| RNU4-2RNA, U4 small nuclear 2 | Noen ganger (5–29 %) | I 1 tilstand |
| RNU5B-1RNA, U5B small nuclear 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SBF2SET binding factor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Noen ganger (5–29 %) | I 2 tilstander |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Noen ganger (5–29 %) | I 2 tilstander |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Noen ganger (5–29 %) | I 2 tilstander |
| SCN9Asodium voltage-gated channel alpha subunit 9 | Noen ganger (5–29 %) | I 2 tilstander |
| SELENONselenoprotein N | Noen ganger (5–29 %) | I 1 tilstand |
| SEMA3Asemaphorin 3A | Noen ganger (5–29 %) | I 1 tilstand |
| SH3TC2SH3 domain and tetratricopeptide repeats 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC5A7solute carrier family 5 member 7 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC9A7solute carrier family 9 member A7 | Noen ganger (5–29 %) | I 1 tilstand |
| SLX4SLX4 structure-specific endonuclease subunit | Noen ganger (5–29 %) | I 1 tilstand |
| SMAD4SMAD family member 4 | Noen ganger (5–29 %) | I 1 tilstand |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Noen ganger (5–29 %) | I 1 tilstand |
| SOX10SRY-box transcription factor 10 | Noen ganger (5–29 %) | I 1 tilstand |
| SOX5SRY-box transcription factor 5 | Noen ganger (5–29 %) | I 1 tilstand |
| SOX9SRY-box transcription factor 9 | Noen ganger (5–29 %) | I 1 tilstand |
| SPENspen family transcriptional repressor | Noen ganger (5–29 %) | I 1 tilstand |
| SPRED2sprouty related EVH1 domain containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SPRY4sprouty RTK signaling antagonist 4 | Noen ganger (5–29 %) | I 1 tilstand |
| SYT2synaptotagmin 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TACR3tachykinin receptor 3 | Noen ganger (5–29 %) | I 1 tilstand |
| TAOK1TAO kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TBC1D23TBC1 domain family member 23 | Noen ganger (5–29 %) | I 1 tilstand |
| TBX4T-box transcription factor 4 | Noen ganger (5–29 %) | I 2 tilstander |
| TET3tet methylcytosine dioxygenase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| TGFB1transforming growth factor beta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| THSD4thrombospondin type 1 domain containing 4 | Noen ganger (5–29 %) | I 1 tilstand |
| TONSLtonsoku like, DNA repair protein | Noen ganger (5–29 %) | I 1 tilstand |
| TPM2tropomyosin 2 | Noen ganger (5–29 %) | I 2 tilstander |
| TPM3tropomyosin 3 | Noen ganger (5–29 %) | I 1 tilstand |
| TRA2Btransformer 2 beta homolog | Noen ganger (5–29 %) | I 1 tilstand |
| TRAF7TNF receptor associated factor 7 | Noen ganger (5–29 %) | I 1 tilstand |
| TRIOtrio Rho guanine nucleotide exchange factor | Noen ganger (5–29 %) | I 1 tilstand |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Noen ganger (5–29 %) | I 1 tilstand |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Noen ganger (5–29 %) | I 2 tilstander |
| TTNtitin | Noen ganger (5–29 %) | I 1 tilstand |
| UBE2Tubiquitin conjugating enzyme E2 T | Noen ganger (5–29 %) | I 1 tilstand |
| USP9Xubiquitin specific peptidase 9 X-linked | Noen ganger (5–29 %) | I 1 tilstand |
| WACWW domain containing adaptor with coiled-coil | Noen ganger (5–29 %) | I 1 tilstand |
| WBP4WW domain binding protein 4 | Noen ganger (5–29 %) | I 1 tilstand |
| WDR11WD repeat domain 11 | Noen ganger (5–29 %) | I 1 tilstand |
| XPO1exportin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| XRCC2X-ray repair cross complementing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ZEB2zinc finger E-box binding homeobox 2 | Noen ganger (5–29 %) | I 2 tilstander |
| ZNF148zinc finger protein 148 | Noen ganger (5–29 %) | I 1 tilstand |
| ZNF469zinc finger protein 469 | Noen ganger (5–29 %) | I 1 tilstand |
| ADGRV1adhesion G protein-coupled receptor V1 | Sjelden (1–4%) | I 1 tilstand |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Sjelden (1–4%) | I 1 tilstand |
| CLCN4Cl-/H+ antiporter 4 | Sjelden (1–4%) | I 1 tilstand |
| CPA6carboxypeptidase A6 | Sjelden (1–4%) | I 1 tilstand |
| FBLN5fibulin 5 | Sjelden (1–4%) | I 1 tilstand |
| FGF13fibroblast growth factor 13 | Sjelden (1–4%) | I 1 tilstand |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Sjelden (1–4%) | I 1 tilstand |
| GJA5gap junction protein alpha 5 | Sjelden (1–4%) | I 1 tilstand |
| GJA8gap junction protein alpha 8 | Sjelden (1–4%) | I 1 tilstand |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Sjelden (1–4%) | I 1 tilstand |
| MSL2MSL complex subunit 2 | Sjelden (1–4%) | I 1 tilstand |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Sjelden (1–4%) | I 2 tilstander |
| PRRT2proline rich transmembrane protein 2 | Sjelden (1–4%) | I 1 tilstand |
| PTBP1polypyrimidine tract binding protein 1 | Sjelden (1–4%) | I 1 tilstand |
| SLC10A7solute carrier family 10 member 7 | Sjelden (1–4%) | I 1 tilstand |
| SLC32A1solute carrier family 32 member 1 | Sjelden (1–4%) | I 1 tilstand |
| STX1Bsyntaxin 1B | Sjelden (1–4%) | I 1 tilstand |
| AMMECR1AMMECR nuclear protein 1 | Ikke registrert | I 1 tilstand |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Ikke registrert | I 1 tilstand |
| ATRATR checkpoint kinase | Ikke registrert | I 1 tilstand |
| ATRXATRX chromatin remodeler | Ikke registrert | I 1 tilstand |
| C12orf57chromosome 12 open reading frame 57 | Ikke registrert | I 1 tilstand |
| CANT1calcium activated nucleotidase 1 | Ikke registrert | I 1 tilstand |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Ikke registrert | I 1 tilstand |
| COL2A1collagen type II alpha 1 chain | Ikke registrert | I 1 tilstand |
| CREBBPCREB binding lysine acetyltransferase | Ikke registrert | I 1 tilstand |
| CRLF1cytokine receptor like factor 1 | Ikke registrert | I 1 tilstand |
| EP300EP300 lysine acetyltransferase | Ikke registrert | I 1 tilstand |
| EXOC6Bexocyst complex component 6B | Ikke registrert | I 1 tilstand |
| EXT2exostosin glycosyltransferase 2 | Ikke registrert | I 1 tilstand |
| FOXG1forkhead box G1 | Ikke registrert | I 1 tilstand |
| GANgigaxonin | Ikke registrert | I 1 tilstand |
| GDF5growth differentiation factor 5 | Ikke registrert | I 1 tilstand |
| GDF6growth differentiation factor 6 | Ikke registrert | I 1 tilstand |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Ikke registrert | I 1 tilstand |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Ikke registrert | I 1 tilstand |
| MMP2matrix metallopeptidase 2 | Ikke registrert | I 1 tilstand |
| PEX6peroxisomal biogenesis factor 6 | Ikke registrert | I 1 tilstand |
| RAB7ARAB7A, member RAS oncogene family | Ikke registrert | I 1 tilstand |
| RLIMring finger protein, LIM domain interacting | Ikke registrert | I 1 tilstand |
| SALL4spalt like transcription factor 4 | Ikke registrert | I 1 tilstand |
| SIL1SIL1 nucleotide exchange factor | Ikke registrert | I 1 tilstand |
| SLC39A13solute carrier family 39 member 13 | Ikke registrert | I 1 tilstand |
| SPRTNSprT-like N-terminal domain | Ikke registrert | I 1 tilstand |
| STAG2STAG2 cohesin complex component | Ikke registrert | I 1 tilstand |
| TDO2tryptophan 2,3-dioxygenase | Ikke registrert | I 1 tilstand |
| TLK2tousled like kinase 2 | Ikke registrert | I 1 tilstand |
| TRPS1transcriptional repressor GATA binding 1 | Ikke registrert | I 1 tilstand |
| UCHL1ubiquitin C-terminal hydrolase L1 | Ikke registrert | I 1 tilstand |
| VPS13Bvacuolar protein sorting 13 homolog B | Ikke registrert | I 1 tilstand |
| ZDHHC9zDHHC palmitoyltransferase 9 | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
Smalere egenskaper
Bredere egenskaper
Slik er informasjonen samlet
- Human Phenotype Ontology, versjon 2026-09-01: egenskapen, navnene på den, definisjonen og genene som er knyttet til den. Les mer på hpo.jax.org.
- Datautgave 2026.10.16-c6eea6bf.
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