Piirre
High-arched foot
Kliininen nimi: Pes cavus
An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight).
Yhteenveto
- Tunnetaan myös nimellä
- Cavus foot
- Elimistön järjestelmä
- Abnormality of limbs
ViitegenomiGRCh38hg38
Geenien ja varianttien sivujen sijainnit noudattavat tätä valintaa tässä selaimessa.
Read the genes linked to High-arched foot, and the rest of your genome, with one test.
Alkaen 449 $Ilmainen toimitus · Tulokset 6–8 viikossa
Tilaa Genome Test315 geeniä, jotka liittyvät piirteeseen High-arched foot
Näiden geenien muutokset aiheuttavat harvinaisia sairauksia, joissa High-arched foot 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 |
|---|---|---|
| ADCY6adenylate cyclase 6 | Aina | 1 sairaudessa |
| BAG3BAG cochaperone 3 | Aina | 2 sairaudessa |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Aina | 3 sairaudessa |
| CHP1calcineurin like EF-hand protein 1 | Aina | 1 sairaudessa |
| COL6A1collagen type VI alpha 1 chain | Aina | 1 sairaudessa |
| COQ7coenzyme Q7, hydroxylase | Aina | 1 sairaudessa |
| COX18cytochrome c oxidase assembly factor COX18 | Aina | 1 sairaudessa |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Aina | 1 sairaudessa |
| DHTKD1dehydrogenase E1 and transketolase domain containing 1 | Aina | 1 sairaudessa |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Aina | 1 sairaudessa |
| FEM1Bfem-1 homolog B | Aina | 1 sairaudessa |
| GJC2gap junction protein gamma 2 | Aina | 2 sairaudessa |
| GTF3C3general transcription factor IIIC subunit 3 | Aina | 1 sairaudessa |
| GTPBP1GTP binding protein 1 | Aina | 1 sairaudessa |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Aina | 1 sairaudessa |
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Aina | 2 sairaudessa |
| JKAMPJNK1/MAPK8 associated membrane protein | Aina | 1 sairaudessa |
| KYkyphoscoliosis peptidase | Aina | 1 sairaudessa |
| LBRlamin B receptor | Aina | 1 sairaudessa |
| LIPElipase E, hormone sensitive type | Aina | 1 sairaudessa |
| MAD1L1mitotic arrest deficient 1 like 1 | Aina | 1 sairaudessa |
| MPZmyelin protein zero | Aina | 6 sairaudessa |
| MYMXmyomixer, myoblast fusion factor | Aina | 1 sairaudessa |
| NDC1NDC1 transmembrane nucleoporin | Aina | 1 sairaudessa |
| NDRG1N-myc downstream regulated 1 | Aina | 2 sairaudessa |
| NEFLneurofilament light chain | Aina | 5 sairaudessa |
| PDXKpyridoxal kinase | Aina | 1 sairaudessa |
| PLEKHG5pleckstrin homology and RhoGEF domain containing G5 | Aina | 1 sairaudessa |
| PMP2peripheral myelin protein 2 | Aina | 1 sairaudessa |
| PNPLA6patatin like domain 6, lysophospholipase | Aina | 1 sairaudessa |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Aina | 1 sairaudessa |
| RAB7ARAB7A, member RAS oncogene family | Aina | 1 sairaudessa |
| REEP1receptor accessory protein 1 | Aina | 4 sairaudessa |
| RFC4replication factor C subunit 4 | Aina | 1 sairaudessa |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Aina | 1 sairaudessa |
| SCO2synthesis of cytochrome C oxidase 2 | Aina | 1 sairaudessa |
| SGSM3small G protein signaling modulator 3 | Aina | 1 sairaudessa |
| SPARTspartin | Aina | 2 sairaudessa |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Aina | 2 sairaudessa |
| TDP1tyrosyl-DNA phosphodiesterase 1 | Aina | 2 sairaudessa |
Näytä 275 geeniä lisää
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| TRIM2tripartite motif containing 2 | Aina | 1 sairaudessa |
| UCHL1ubiquitin C-terminal hydrolase L1 | Aina | 1 sairaudessa |
| XPAXPA, DNA damage recognition and repair factor | Aina | 1 sairaudessa |
| XRCC4X-ray repair cross complementing 4 | Aina | 1 sairaudessa |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| CUL4Bcullin 4B | Hyvin usein (80–99%) | 2 sairaudessa |
| DYNC1H1dynein cytoplasmic 1 heavy chain 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| GBA2glucosylceramidase beta 2 | Hyvin usein (80–99%) | 3 sairaudessa |
| GDAP1ganglioside induced differentiation associated protein 1 | Hyvin usein (80–99%) | 4 sairaudessa |
| GJB1gap junction protein beta 1 | Hyvin usein (80–99%) | 3 sairaudessa |
| HDAC8histone deacetylase 8 | Hyvin usein (80–99%) | 1 sairaudessa |
| HK1hexokinase 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| HSPB1heat shock protein family B (small) member 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| LAS1LLAS1 like ribosome biogenesis factor | Hyvin usein (80–99%) | 2 sairaudessa |
| PDK3pyruvate dehydrogenase kinase 3 | Hyvin usein (80–99%) | 2 sairaudessa |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| VCPvalosin containing protein | Hyvin usein (80–99%) | 2 sairaudessa |
| AHDC1AT-hook DNA binding motif containing 1 | Usein (30–79%) | 1 sairaudessa |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Usein (30–79%) | 3 sairaudessa |
| ANO10anoctamin 10 | Usein (30–79%) | 2 sairaudessa |
| APTXaprataxin | Usein (30–79%) | 1 sairaudessa |
| ARHGAP19Rho GTPase activating protein 19 | Usein (30–79%) | 1 sairaudessa |
| ATP13A2ATPase cation transporting 13A2 | Usein (30–79%) | 2 sairaudessa |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Usein (30–79%) | 2 sairaudessa |
| B4GALNT1beta-1,4-N-acetyl-galactosaminyltransferase 1 | Usein (30–79%) | 2 sairaudessa |
| CAPN1calpain 1 | Usein (30–79%) | 2 sairaudessa |
| CAV3caveolin 3 | Usein (30–79%) | 2 sairaudessa |
| CBScystathionine beta-synthase | Usein (30–79%) | 1 sairaudessa |
| COASYCoenzyme A synthase | Usein (30–79%) | 1 sairaudessa |
| COL13A1collagen type XIII alpha 1 chain | Usein (30–79%) | 1 sairaudessa |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Usein (30–79%) | 1 sairaudessa |
| CYP7B1cytochrome P450 family 7 subfamily B member 1 | Usein (30–79%) | 2 sairaudessa |
| DDHD1DDHD domain containing 1 | Usein (30–79%) | 2 sairaudessa |
| DMXL2Dmx like 2 | Usein (30–79%) | 1 sairaudessa |
| DNAJB2DnaJ heat shock protein family (Hsp40) member B2 | Usein (30–79%) | 1 sairaudessa |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Usein (30–79%) | 1 sairaudessa |
| EMILIN1elastin microfibril interfacer 1 | Usein (30–79%) | 1 sairaudessa |
| FBN1fibrillin 1 | Usein (30–79%) | 1 sairaudessa |
| FGF14fibroblast growth factor 14 | Usein (30–79%) | 2 sairaudessa |
| FHL1four and a half LIM domains 1 | Usein (30–79%) | 1 sairaudessa |
| FITM2fat storage inducing transmembrane protein 2 | Usein (30–79%) | 1 sairaudessa |
| FLRT1fibronectin leucine rich transmembrane protein 1 | Usein (30–79%) | 1 sairaudessa |
| FXNfrataxin | Usein (30–79%) | 3 sairaudessa |
| GANgigaxonin | Usein (30–79%) | 2 sairaudessa |
| GBF1golgi brefeldin A resistant guanine nucleotide exchange factor 1 | Usein (30–79%) | 1 sairaudessa |
| GCH1GTP cyclohydrolase 1 | Usein (30–79%) | 2 sairaudessa |
| GLB1galactosidase beta 1 | Usein (30–79%) | 1 sairaudessa |
| GNSglucosamine (N-acetyl)-6-sulfatase | Usein (30–79%) | 1 sairaudessa |
| HARS1histidyl-tRNA synthetase 1 | Usein (30–79%) | 2 sairaudessa |
| HSPB8heat shock protein family B (small) member 8 | Usein (30–79%) | 2 sairaudessa |
| IBA57iron-sulfur cluster assembly factor IBA57 | Usein (30–79%) | 1 sairaudessa |
| IFRD1interferon related developmental regulator 1 | Usein (30–79%) | 1 sairaudessa |
| IMPDH2inosine monophosphate dehydrogenase 2 | Usein (30–79%) | 1 sairaudessa |
| IQSEC2IQ motif and Sec7 domain ArfGEF 2 | Usein (30–79%) | 1 sairaudessa |
| JAG1jagged canonical Notch ligand 1 | Usein (30–79%) | 1 sairaudessa |
| KIF5Akinesin family member 5A | Usein (30–79%) | 2 sairaudessa |
| KLC2kinesin light chain 2 | Usein (30–79%) | 2 sairaudessa |
| KNSTRNkinetochore localized astrin (SPAG5) binding protein | Usein (30–79%) | 1 sairaudessa |
| LAMP2lysosome associated membrane protein 2 | Usein (30–79%) | 1 sairaudessa |
| LITAFlipopolysaccharide induced TNF factor | Usein (30–79%) | 1 sairaudessa |
| LMNAlamin A/C | Usein (30–79%) | 3 sairaudessa |
| MCM3APminichromosome maintenance complex component 3 associated protein | Usein (30–79%) | 1 sairaudessa |
| MFN2mitofusin 2 | Usein (30–79%) | 4 sairaudessa |
| MMEmembrane metalloendopeptidase | Usein (30–79%) | 2 sairaudessa |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Usein (30–79%) | 2 sairaudessa |
| MTRFRmitochondrial translation release factor in rescue | Usein (30–79%) | 1 sairaudessa |
| NIPA1NIPA magnesium transporter 1 | Usein (30–79%) | 2 sairaudessa |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Usein (30–79%) | 1 sairaudessa |
| NRCAMneuronal cell adhesion molecule | Usein (30–79%) | 1 sairaudessa |
| NSUN2NOP2/Sun RNA methyltransferase 2 | Usein (30–79%) | 1 sairaudessa |
| PEX10peroxisomal biogenesis factor 10 | Usein (30–79%) | 2 sairaudessa |
| PI4K2Aphosphatidylinositol 4-kinase type 2 alpha | Usein (30–79%) | 1 sairaudessa |
| PI4KAphosphatidylinositol 4-kinase alpha | Usein (30–79%) | 1 sairaudessa |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Usein (30–79%) | 1 sairaudessa |
| PLAAT3phospholipase A and acyltransferase 3 | Usein (30–79%) | 1 sairaudessa |
| PMP22peripheral myelin protein 22 | Usein (30–79%) | 8 sairaudessa |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Usein (30–79%) | 2 sairaudessa |
| PODXLpodocalyxin like | Usein (30–79%) | 1 sairaudessa |
| POLR1ARNA polymerase I subunit A | Usein (30–79%) | 1 sairaudessa |
| REEP2receptor accessory protein 2 | Usein (30–79%) | 2 sairaudessa |
| REPS1RALBP1 associated Eps domain containing 1 | Usein (30–79%) | 1 sairaudessa |
| RTN2reticulon 2 | Usein (30–79%) | 3 sairaudessa |
| RUSC2RUN and SH3 domain containing 2 | Usein (30–79%) | 1 sairaudessa |
| SACSsacsin molecular chaperone | Usein (30–79%) | 1 sairaudessa |
| SBF2SET binding factor 2 | Usein (30–79%) | 2 sairaudessa |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Usein (30–79%) | 1 sairaudessa |
| SETXsenataxin | Usein (30–79%) | 2 sairaudessa |
| SH3TC2SH3 domain and tetratricopeptide repeats 2 | Usein (30–79%) | 2 sairaudessa |
| SLC25A1solute carrier family 25 member 1 | Usein (30–79%) | 1 sairaudessa |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Usein (30–79%) | 3 sairaudessa |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Usein (30–79%) | 2 sairaudessa |
| SYNJ1synaptojanin 1 | Usein (30–79%) | 1 sairaudessa |
| SYT2synaptotagmin 2 | Usein (30–79%) | 1 sairaudessa |
| THtyrosine hydroxylase | Usein (30–79%) | 1 sairaudessa |
| TSPOAP1TSPO associated protein 1 | Usein (30–79%) | 1 sairaudessa |
| TTPAalpha tocopherol transfer protein | Usein (30–79%) | 1 sairaudessa |
| UBAP1ubiquitin associated protein 1 | Usein (30–79%) | 2 sairaudessa |
| UBE2Aubiquitin conjugating enzyme E2 A | Usein (30–79%) | 1 sairaudessa |
| VPS13Dvacuolar protein sorting 13 homolog D | Usein (30–79%) | 2 sairaudessa |
| VPS41VPS41 subunit of HOPS complex | Usein (30–79%) | 1 sairaudessa |
| VRK1VRK serine/threonine kinase 1 | Usein (30–79%) | 1 sairaudessa |
| VWA1von Willebrand factor A domain containing 1 | Usein (30–79%) | 1 sairaudessa |
| WASHC5WASH complex subunit 5 | Usein (30–79%) | 2 sairaudessa |
| WSB2WD repeat and SOCS box containing 2 | Usein (30–79%) | 1 sairaudessa |
| AAASaladin WD repeat nucleoporin | Joskus (5–29%) | 1 sairaudessa |
| ACTA1actin alpha 1, skeletal muscle | Joskus (5–29%) | 3 sairaudessa |
| ADPRSADP-ribosylserine hydrolase | Joskus (5–29%) | 1 sairaudessa |
| ANOS1anosmin 1 | Joskus (5–29%) | 2 sairaudessa |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Joskus (5–29%) | 1 sairaudessa |
| ATG7autophagy related 7 | Joskus (5–29%) | 1 sairaudessa |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Joskus (5–29%) | 1 sairaudessa |
| BICD2BICD cargo adaptor 2 | Joskus (5–29%) | 1 sairaudessa |
| BIN1bridging integrator 1 | Joskus (5–29%) | 2 sairaudessa |
| CARS1cysteinyl-tRNA synthetase 1 | Joskus (5–29%) | 1 sairaudessa |
| CCDC141coiled-coil domain containing 141 | Joskus (5–29%) | 1 sairaudessa |
| CHD7chromodomain helicase DNA binding protein 7 | Joskus (5–29%) | 1 sairaudessa |
| CNTNAP2contactin associated protein 2 | Joskus (5–29%) | 1 sairaudessa |
| CPT1Ccarnitine palmitoyltransferase 1C | Joskus (5–29%) | 1 sairaudessa |
| DCCDCC netrin 1 receptor | Joskus (5–29%) | 1 sairaudessa |
| DDHD2DDHD domain containing 2 | Joskus (5–29%) | 1 sairaudessa |
| DHHdesert hedgehog signaling molecule | Joskus (5–29%) | 1 sairaudessa |
| DUSP6dual specificity phosphatase 6 | Joskus (5–29%) | 1 sairaudessa |
| DYSFdysferlin | Joskus (5–29%) | 1 sairaudessa |
| EIF2AK2eukaryotic translation initiation factor 2 alpha kinase 2 | Joskus (5–29%) | 1 sairaudessa |
| EMX2empty spiracles homeobox 2 | Joskus (5–29%) | 1 sairaudessa |
| ERCC5ERCC excision repair 5, endonuclease | Joskus (5–29%) | 1 sairaudessa |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Joskus (5–29%) | 2 sairaudessa |
| FBXO38F-box protein 38 | 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 |
| FLNAfilamin A | Joskus (5–29%) | 1 sairaudessa |
| FLRT3fibronectin leucine rich transmembrane protein 3 | Joskus (5–29%) | 1 sairaudessa |
| GALCgalactosylceramidase | Joskus (5–29%) | 2 sairaudessa |
| GARS1glycyl-tRNA synthetase 1 | Joskus (5–29%) | 3 sairaudessa |
| GBA1glucosylceramidase beta 1 | Joskus (5–29%) | 2 sairaudessa |
| GMPPAGDP-mannose pyrophosphorylase A | Joskus (5–29%) | 1 sairaudessa |
| GOSR2golgi SNAP receptor complex member 2 | Joskus (5–29%) | 1 sairaudessa |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Joskus (5–29%) | 2 sairaudessa |
| GTF2E2general transcription factor IIE subunit 2 | Joskus (5–29%) | 1 sairaudessa |
| GTPBP2GTP binding protein 2 | Joskus (5–29%) | 1 sairaudessa |
| H3-3BH3.3 histone B | Joskus (5–29%) | 1 sairaudessa |
| HACD13-hydroxyacyl-CoA dehydratase 1 | Joskus (5–29%) | 1 sairaudessa |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Joskus (5–29%) | 1 sairaudessa |
| HADHBhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | Joskus (5–29%) | 1 sairaudessa |
| HESX1HESX homeobox 1 | Joskus (5–29%) | 1 sairaudessa |
| HINT1histidine triad nucleotide binding protein 1 | Joskus (5–29%) | 1 sairaudessa |
| HS6ST1heparan sulfate 6-O-sulfotransferase 1 | Joskus (5–29%) | 1 sairaudessa |
| HSPD1heat shock protein family D (Hsp60) member 1 | Joskus (5–29%) | 1 sairaudessa |
| IL17RDinterleukin 17 receptor D | Joskus (5–29%) | 1 sairaudessa |
| ITGA7integrin subunit alpha 7 | Joskus (5–29%) | 1 sairaudessa |
| KBTBD13kelch repeat and BTB domain containing 13 | 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 |
| KLHL41kelch like family member 41 | Joskus (5–29%) | 1 sairaudessa |
| KPNA3karyopherin subunit alpha 3 | Joskus (5–29%) | 1 sairaudessa |
| LONP1lon peptidase 1, mitochondrial | Joskus (5–29%) | 1 sairaudessa |
| MAFBMAF bZIP transcription factor B | Joskus (5–29%) | 1 sairaudessa |
| MAP1Bmicrotubule associated protein 1B | Joskus (5–29%) | 1 sairaudessa |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Joskus (5–29%) | 1 sairaudessa |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Joskus (5–29%) | 1 sairaudessa |
| MED25mediator complex subunit 25 | Joskus (5–29%) | 1 sairaudessa |
| MORC2MORC family CW-type zinc finger 2 | Joskus (5–29%) | 2 sairaudessa |
| MRE11MRE11 double strand break repair nuclease | Joskus (5–29%) | 1 sairaudessa |
| MTTPmicrosomal triglyceride transfer protein | Joskus (5–29%) | 1 sairaudessa |
| MYL2myosin light chain 2 | Joskus (5–29%) | 1 sairaudessa |
| MYPNmyopalladin | Joskus (5–29%) | 2 sairaudessa |
| NARS1asparaginyl-tRNA synthetase 1 | Joskus (5–29%) | 1 sairaudessa |
| NDNFneuron derived neurotrophic factor | Joskus (5–29%) | 1 sairaudessa |
| NEBnebulin | Joskus (5–29%) | 1 sairaudessa |
| NF1neurofibromin 1 | Joskus (5–29%) | 1 sairaudessa |
| NFIXnuclear factor I X | Joskus (5–29%) | 1 sairaudessa |
| NLRP3NLR family pyrin domain containing 3 | Joskus (5–29%) | 1 sairaudessa |
| NSD1nuclear receptor binding SET domain protein 1 | Joskus (5–29%) | 1 sairaudessa |
| OPA1OPA1 mitochondrial dynamin like GTPase | Joskus (5–29%) | 2 sairaudessa |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Joskus (5–29%) | 1 sairaudessa |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Joskus (5–29%) | 1 sairaudessa |
| PEX2peroxisomal biogenesis factor 2 | Joskus (5–29%) | 1 sairaudessa |
| PEX5peroxisomal biogenesis factor 5 | Joskus (5–29%) | 1 sairaudessa |
| PEX7peroxisomal biogenesis factor 7 | Joskus (5–29%) | 3 sairaudessa |
| PHYHphytanoyl-CoA 2-hydroxylase | Joskus (5–29%) | 2 sairaudessa |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Joskus (5–29%) | 1 sairaudessa |
| PMPCApeptidase, mitochondrial processing subunit alpha | Joskus (5–29%) | 1 sairaudessa |
| PNKPpolynucleotide kinase 3'-phosphatase | Joskus (5–29%) | 1 sairaudessa |
| POLGDNA polymerase gamma, catalytic subunit | Joskus (5–29%) | 2 sairaudessa |
| PROK2prokineticin 2 | Joskus (5–29%) | 1 sairaudessa |
| PROKR2prokineticin receptor 2 | Joskus (5–29%) | 1 sairaudessa |
| PYROXD1pyridine nucleotide-disulphide oxidoreductase domain 1 | Joskus (5–29%) | 1 sairaudessa |
| RAB11BRAB11B, member RAS oncogene family | Joskus (5–29%) | 1 sairaudessa |
| RSPRY1ring finger and SPRY domain containing 1 | Joskus (5–29%) | 1 sairaudessa |
| RYR1ryanodine receptor 1 | Joskus (5–29%) | 1 sairaudessa |
| SAMD9Lsterile alpha motif domain containing 9 like | Joskus (5–29%) | 1 sairaudessa |
| SELENONselenoprotein N | Joskus (5–29%) | 1 sairaudessa |
| SEMA3Asemaphorin 3A | Joskus (5–29%) | 1 sairaudessa |
| SETBP1SET binding protein 1 | Joskus (5–29%) | 1 sairaudessa |
| SLC25A46solute carrier family 25 member 46 | Joskus (5–29%) | 1 sairaudessa |
| SLC33A1solute carrier family 33 member 1 | Joskus (5–29%) | 2 sairaudessa |
| SOX10SRY-box transcription factor 10 | Joskus (5–29%) | 2 sairaudessa |
| SPASTspastin | Joskus (5–29%) | 1 sairaudessa |
| SPEGstriated muscle enriched protein kinase | Joskus (5–29%) | 1 sairaudessa |
| SPENspen family transcriptional repressor | Joskus (5–29%) | 1 sairaudessa |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Joskus (5–29%) | 2 sairaudessa |
| SPRY4sprouty RTK signaling antagonist 4 | Joskus (5–29%) | 1 sairaudessa |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Joskus (5–29%) | 1 sairaudessa |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Joskus (5–29%) | 2 sairaudessa |
| TACR3tachykinin receptor 3 | Joskus (5–29%) | 1 sairaudessa |
| TNNT1troponin T1, slow skeletal type | Joskus (5–29%) | 1 sairaudessa |
| TPM2tropomyosin 2 | Joskus (5–29%) | 2 sairaudessa |
| TPM3tropomyosin 3 | Joskus (5–29%) | 3 sairaudessa |
| TRAPPC11trafficking protein particle complex subunit 11 | Joskus (5–29%) | 1 sairaudessa |
| TTNtitin | Joskus (5–29%) | 1 sairaudessa |
| TWNKtwinkle mtDNA helicase | Joskus (5–29%) | 2 sairaudessa |
| USP9Xubiquitin specific peptidase 9 X-linked | Joskus (5–29%) | 2 sairaudessa |
| VAMP1vesicle associated membrane protein 1 | Joskus (5–29%) | 2 sairaudessa |
| WDR11WD repeat domain 11 | Joskus (5–29%) | 1 sairaudessa |
| WDR26WD repeat domain 26 | Joskus (5–29%) | 2 sairaudessa |
| ZFYVE26zinc finger FYVE-type containing 26 | Joskus (5–29%) | 2 sairaudessa |
| CTCFCCCTC-binding factor | Harvinainen (1–4 %) | 1 sairaudessa |
| DNM1Ldynamin 1L | Harvinainen (1–4 %) | 1 sairaudessa |
| HEXBhexosaminidase subunit beta | Harvinainen (1–4 %) | 1 sairaudessa |
| PPIBpeptidylprolyl isomerase B | Harvinainen (1–4 %) | 1 sairaudessa |
| AARS1alanyl-tRNA synthetase 1 | Ei kirjattu | 1 sairaudessa |
| ABHD12abhydrolase domain containing 12, lysophospholipase | Ei kirjattu | 1 sairaudessa |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Ei kirjattu | 1 sairaudessa |
| ATL1atlastin GTPase 1 | Ei kirjattu | 2 sairaudessa |
| ATP1A1ATPase Na+/K+ transporting subunit alpha 1 | Ei kirjattu | 1 sairaudessa |
| ATP7AATPase copper transporting alpha | Ei kirjattu | 1 sairaudessa |
| B3GLCTbeta 3-glucosyltransferase | Ei kirjattu | 1 sairaudessa |
| C19orf12chromosome 19 open reading frame 12 | Ei kirjattu | 2 sairaudessa |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Ei kirjattu | 1 sairaudessa |
| CHMP1Acharged multivesicular body protein 1A | Ei kirjattu | 1 sairaudessa |
| COA7cytochrome c oxidase assembly factor 7 | Ei kirjattu | 1 sairaudessa |
| COQ8Acoenzyme Q8A | Ei kirjattu | 1 sairaudessa |
| COX6A1cytochrome c oxidase subunit 6A1 | Ei kirjattu | 1 sairaudessa |
| CTDP1CTD phosphatase 1 | Ei kirjattu | 1 sairaudessa |
| DCAF8DDB1 and CUL4 associated factor 8 | Ei kirjattu | 1 sairaudessa |
| DNM2dynamin 2 | Ei kirjattu | 1 sairaudessa |
| EGR2early growth response 2 | Ei kirjattu | 1 sairaudessa |
| ERLIN2ER lipid raft associated 2 | Ei kirjattu | 1 sairaudessa |
| FBLN5fibulin 5 | Ei kirjattu | 1 sairaudessa |
| FDX2ferredoxin 2 | Ei kirjattu | 1 sairaudessa |
| FGD4FYVE, RhoGEF and PH domain containing 4 | Ei kirjattu | 1 sairaudessa |
| GJB2gap junction protein beta 2 | Ei kirjattu | 2 sairaudessa |
| GNB4G protein subunit beta 4 | Ei kirjattu | 1 sairaudessa |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Ei kirjattu | 1 sairaudessa |
| IDSiduronate 2-sulfatase | Ei kirjattu | 1 sairaudessa |
| IDUAalpha-L-iduronidase | Ei kirjattu | 1 sairaudessa |
| IFIH1interferon induced with helicase C domain 1 | Ei kirjattu | 1 sairaudessa |
| INF2inverted formin 2 | Ei kirjattu | 1 sairaudessa |
| KARS1lysyl-tRNA synthetase 1 | Ei kirjattu | 1 sairaudessa |
| KIF1Bkinesin family member 1B | Ei kirjattu | 1 sairaudessa |
| L1CAML1 cell adhesion molecule | Ei kirjattu | 1 sairaudessa |
| LRSAM1leucine rich repeat and sterile alpha motif containing 1 | Ei kirjattu | 1 sairaudessa |
| MECP2methyl-CpG binding protein 2 | Ei kirjattu | 1 sairaudessa |
| MMP2matrix metallopeptidase 2 | Ei kirjattu | 1 sairaudessa |
| MPV17mitochondrial inner membrane protein MPV17 | Ei kirjattu | 1 sairaudessa |
| MYH7myosin heavy chain 7 | Ei kirjattu | 1 sairaudessa |
| NEFHneurofilament heavy chain | Ei kirjattu | 1 sairaudessa |
| PCGF2polycomb group ring finger 2 | Ei kirjattu | 1 sairaudessa |
| PCNAproliferating cell nuclear antigen | Ei kirjattu | 1 sairaudessa |
| PLIN4perilipin 4 | Ei kirjattu | 1 sairaudessa |
| PLP1proteolipid protein 1 | Ei kirjattu | 1 sairaudessa |
| PQBP1polyglutamine binding protein 1 | Ei kirjattu | 1 sairaudessa |
| PRXperiaxin | Ei kirjattu | 2 sairaudessa |
| RETret proto-oncogene | Ei kirjattu | 1 sairaudessa |
| SIGMAR1sigma receptor chaperone 1 | Ei kirjattu | 1 sairaudessa |
| SLC5A7solute carrier family 5 member 7 | Ei kirjattu | 1 sairaudessa |
| SLC6A8solute carrier family 6 member 8 | Ei kirjattu | 1 sairaudessa |
| SORDsorbitol dehydrogenase | Ei kirjattu | 1 sairaudessa |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Ei kirjattu | 1 sairaudessa |
| VPS13Avacuolar protein sorting 13 homolog A | Ei kirjattu | 1 sairaudessa |
| WARS1tryptophanyl-tRNA synthetase 1 | Ei kirjattu | 1 sairaudessa |
| WDR73WD repeat domain 73 | Ei kirjattu | 1 sairaudessa |
| ZBTB20zinc finger and BTB domain containing 20 | 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.
Laajemmat piirteet
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.
Yksi testi. Vastauksia koko elämäksi.
Alkaen 449 $Ilmainen toimitus · Tulokset 6–8 viikossa