Træk
High-arched foot
Klinisk navn: 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).
Resumé
- Også kaldet
- Cavus foot
- Kropssystem
- Abnormality of limbs
ReferencegenomGRCh38hg38
Positioner på gen- og variantsider følger dette valg i denne browser.
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Ændringer i disse gener forårsager sjældne tilstande, hvor High-arched foot ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| ADCY6adenylate cyclase 6 | Altid | I 1 tilstand |
| BAG3BAG cochaperone 3 | Altid | I 2 tilstande |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Altid | I 3 tilstande |
| CHP1calcineurin like EF-hand protein 1 | Altid | I 1 tilstand |
| COL6A1collagen type VI alpha 1 chain | Altid | I 1 tilstand |
| COQ7coenzyme Q7, hydroxylase | Altid | I 1 tilstand |
| COX18cytochrome c oxidase assembly factor COX18 | Altid | I 1 tilstand |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Altid | I 1 tilstand |
| DHTKD1dehydrogenase E1 and transketolase domain containing 1 | Altid | I 1 tilstand |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Altid | I 1 tilstand |
| FEM1Bfem-1 homolog B | Altid | I 1 tilstand |
| GJC2gap junction protein gamma 2 | Altid | I 2 tilstande |
| GTF3C3general transcription factor IIIC subunit 3 | Altid | I 1 tilstand |
| GTPBP1GTP binding protein 1 | Altid | I 1 tilstand |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Altid | I 1 tilstand |
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Altid | I 2 tilstande |
| JKAMPJNK1/MAPK8 associated membrane protein | Altid | I 1 tilstand |
| KYkyphoscoliosis peptidase | Altid | I 1 tilstand |
| LBRlamin B receptor | Altid | I 1 tilstand |
| LIPElipase E, hormone sensitive type | Altid | I 1 tilstand |
| MAD1L1mitotic arrest deficient 1 like 1 | Altid | I 1 tilstand |
| MPZmyelin protein zero | Altid | I 6 tilstande |
| MYMXmyomixer, myoblast fusion factor | Altid | I 1 tilstand |
| NDC1NDC1 transmembrane nucleoporin | Altid | I 1 tilstand |
| NDRG1N-myc downstream regulated 1 | Altid | I 2 tilstande |
| NEFLneurofilament light chain | Altid | I 5 tilstande |
| PDXKpyridoxal kinase | Altid | I 1 tilstand |
| PLEKHG5pleckstrin homology and RhoGEF domain containing G5 | Altid | I 1 tilstand |
| PMP2peripheral myelin protein 2 | Altid | I 1 tilstand |
| PNPLA6patatin like domain 6, lysophospholipase | Altid | I 1 tilstand |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Altid | I 1 tilstand |
| RAB7ARAB7A, member RAS oncogene family | Altid | I 1 tilstand |
| REEP1receptor accessory protein 1 | Altid | I 4 tilstande |
| RFC4replication factor C subunit 4 | Altid | I 1 tilstand |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Altid | I 1 tilstand |
| SCO2synthesis of cytochrome C oxidase 2 | Altid | I 1 tilstand |
| SGSM3small G protein signaling modulator 3 | Altid | I 1 tilstand |
| SPARTspartin | Altid | I 2 tilstande |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Altid | I 2 tilstande |
| TDP1tyrosyl-DNA phosphodiesterase 1 | Altid | I 2 tilstande |
Vis 275 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| TRIM2tripartite motif containing 2 | Altid | I 1 tilstand |
| UCHL1ubiquitin C-terminal hydrolase L1 | Altid | I 1 tilstand |
| XPAXPA, DNA damage recognition and repair factor | Altid | I 1 tilstand |
| XRCC4X-ray repair cross complementing 4 | Altid | I 1 tilstand |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Meget ofte (80–99 %) | I 1 tilstand |
| CUL4Bcullin 4B | Meget ofte (80–99 %) | I 2 tilstande |
| DYNC1H1dynein cytoplasmic 1 heavy chain 1 | Meget ofte (80–99 %) | I 1 tilstand |
| GBA2glucosylceramidase beta 2 | Meget ofte (80–99 %) | I 3 tilstande |
| GDAP1ganglioside induced differentiation associated protein 1 | Meget ofte (80–99 %) | I 4 tilstande |
| GJB1gap junction protein beta 1 | Meget ofte (80–99 %) | I 3 tilstande |
| HDAC8histone deacetylase 8 | Meget ofte (80–99 %) | I 1 tilstand |
| HK1hexokinase 1 | Meget ofte (80–99 %) | I 2 tilstande |
| HSPB1heat shock protein family B (small) member 1 | Meget ofte (80–99 %) | I 1 tilstand |
| LAS1LLAS1 like ribosome biogenesis factor | Meget ofte (80–99 %) | I 2 tilstande |
| PDK3pyruvate dehydrogenase kinase 3 | Meget ofte (80–99 %) | I 2 tilstande |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Meget ofte (80–99 %) | I 2 tilstande |
| VCPvalosin containing protein | Meget ofte (80–99 %) | I 2 tilstande |
| AHDC1AT-hook DNA binding motif containing 1 | Ofte (30–79 %) | I 1 tilstand |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Ofte (30–79 %) | I 3 tilstande |
| ANO10anoctamin 10 | Ofte (30–79 %) | I 2 tilstande |
| APTXaprataxin | Ofte (30–79 %) | I 1 tilstand |
| ARHGAP19Rho GTPase activating protein 19 | Ofte (30–79 %) | I 1 tilstand |
| ATP13A2ATPase cation transporting 13A2 | Ofte (30–79 %) | I 2 tilstande |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Ofte (30–79 %) | I 2 tilstande |
| B4GALNT1beta-1,4-N-acetyl-galactosaminyltransferase 1 | Ofte (30–79 %) | I 2 tilstande |
| CAPN1calpain 1 | Ofte (30–79 %) | I 2 tilstande |
| CAV3caveolin 3 | Ofte (30–79 %) | I 2 tilstande |
| CBScystathionine beta-synthase | Ofte (30–79 %) | I 1 tilstand |
| COASYCoenzyme A synthase | Ofte (30–79 %) | I 1 tilstand |
| COL13A1collagen type XIII alpha 1 chain | Ofte (30–79 %) | I 1 tilstand |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Ofte (30–79 %) | I 1 tilstand |
| CYP7B1cytochrome P450 family 7 subfamily B member 1 | Ofte (30–79 %) | I 2 tilstande |
| DDHD1DDHD domain containing 1 | Ofte (30–79 %) | I 2 tilstande |
| DMXL2Dmx like 2 | Ofte (30–79 %) | I 1 tilstand |
| DNAJB2DnaJ heat shock protein family (Hsp40) member B2 | Ofte (30–79 %) | I 1 tilstand |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Ofte (30–79 %) | I 1 tilstand |
| EMILIN1elastin microfibril interfacer 1 | Ofte (30–79 %) | I 1 tilstand |
| FBN1fibrillin 1 | Ofte (30–79 %) | I 1 tilstand |
| FGF14fibroblast growth factor 14 | Ofte (30–79 %) | I 2 tilstande |
| FHL1four and a half LIM domains 1 | Ofte (30–79 %) | I 1 tilstand |
| FITM2fat storage inducing transmembrane protein 2 | Ofte (30–79 %) | I 1 tilstand |
| FLRT1fibronectin leucine rich transmembrane protein 1 | Ofte (30–79 %) | I 1 tilstand |
| FXNfrataxin | Ofte (30–79 %) | I 3 tilstande |
| GANgigaxonin | Ofte (30–79 %) | I 2 tilstande |
| GBF1golgi brefeldin A resistant guanine nucleotide exchange factor 1 | Ofte (30–79 %) | I 1 tilstand |
| GCH1GTP cyclohydrolase 1 | Ofte (30–79 %) | I 2 tilstande |
| GLB1galactosidase beta 1 | Ofte (30–79 %) | I 1 tilstand |
| GNSglucosamine (N-acetyl)-6-sulfatase | Ofte (30–79 %) | I 1 tilstand |
| HARS1histidyl-tRNA synthetase 1 | Ofte (30–79 %) | I 2 tilstande |
| HSPB8heat shock protein family B (small) member 8 | Ofte (30–79 %) | I 2 tilstande |
| IBA57iron-sulfur cluster assembly factor IBA57 | Ofte (30–79 %) | I 1 tilstand |
| IFRD1interferon related developmental regulator 1 | Ofte (30–79 %) | I 1 tilstand |
| IMPDH2inosine monophosphate dehydrogenase 2 | Ofte (30–79 %) | I 1 tilstand |
| IQSEC2IQ motif and Sec7 domain ArfGEF 2 | Ofte (30–79 %) | I 1 tilstand |
| JAG1jagged canonical Notch ligand 1 | Ofte (30–79 %) | I 1 tilstand |
| KIF5Akinesin family member 5A | Ofte (30–79 %) | I 2 tilstande |
| KLC2kinesin light chain 2 | Ofte (30–79 %) | I 2 tilstande |
| KNSTRNkinetochore localized astrin (SPAG5) binding protein | Ofte (30–79 %) | I 1 tilstand |
| LAMP2lysosome associated membrane protein 2 | Ofte (30–79 %) | I 1 tilstand |
| LITAFlipopolysaccharide induced TNF factor | Ofte (30–79 %) | I 1 tilstand |
| LMNAlamin A/C | Ofte (30–79 %) | I 3 tilstande |
| MCM3APminichromosome maintenance complex component 3 associated protein | Ofte (30–79 %) | I 1 tilstand |
| MFN2mitofusin 2 | Ofte (30–79 %) | I 4 tilstande |
| MMEmembrane metalloendopeptidase | Ofte (30–79 %) | I 2 tilstande |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Ofte (30–79 %) | I 2 tilstande |
| MTRFRmitochondrial translation release factor in rescue | Ofte (30–79 %) | I 1 tilstand |
| NIPA1NIPA magnesium transporter 1 | Ofte (30–79 %) | I 2 tilstande |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Ofte (30–79 %) | I 1 tilstand |
| NRCAMneuronal cell adhesion molecule | Ofte (30–79 %) | I 1 tilstand |
| NSUN2NOP2/Sun RNA methyltransferase 2 | Ofte (30–79 %) | I 1 tilstand |
| PEX10peroxisomal biogenesis factor 10 | Ofte (30–79 %) | I 2 tilstande |
| PI4K2Aphosphatidylinositol 4-kinase type 2 alpha | Ofte (30–79 %) | I 1 tilstand |
| PI4KAphosphatidylinositol 4-kinase alpha | Ofte (30–79 %) | I 1 tilstand |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Ofte (30–79 %) | I 1 tilstand |
| PLAAT3phospholipase A and acyltransferase 3 | Ofte (30–79 %) | I 1 tilstand |
| PMP22peripheral myelin protein 22 | Ofte (30–79 %) | I 8 tilstande |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Ofte (30–79 %) | I 2 tilstande |
| PODXLpodocalyxin like | Ofte (30–79 %) | I 1 tilstand |
| POLR1ARNA polymerase I subunit A | Ofte (30–79 %) | I 1 tilstand |
| REEP2receptor accessory protein 2 | Ofte (30–79 %) | I 2 tilstande |
| REPS1RALBP1 associated Eps domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| RTN2reticulon 2 | Ofte (30–79 %) | I 3 tilstande |
| RUSC2RUN and SH3 domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| SACSsacsin molecular chaperone | Ofte (30–79 %) | I 1 tilstand |
| SBF2SET binding factor 2 | Ofte (30–79 %) | I 2 tilstande |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Ofte (30–79 %) | I 1 tilstand |
| SETXsenataxin | Ofte (30–79 %) | I 2 tilstande |
| SH3TC2SH3 domain and tetratricopeptide repeats 2 | Ofte (30–79 %) | I 2 tilstande |
| SLC25A1solute carrier family 25 member 1 | Ofte (30–79 %) | I 1 tilstand |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Ofte (30–79 %) | I 3 tilstande |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Ofte (30–79 %) | I 2 tilstande |
| SYNJ1synaptojanin 1 | Ofte (30–79 %) | I 1 tilstand |
| SYT2synaptotagmin 2 | Ofte (30–79 %) | I 1 tilstand |
| THtyrosine hydroxylase | Ofte (30–79 %) | I 1 tilstand |
| TSPOAP1TSPO associated protein 1 | Ofte (30–79 %) | I 1 tilstand |
| TTPAalpha tocopherol transfer protein | Ofte (30–79 %) | I 1 tilstand |
| UBAP1ubiquitin associated protein 1 | Ofte (30–79 %) | I 2 tilstande |
| UBE2Aubiquitin conjugating enzyme E2 A | Ofte (30–79 %) | I 1 tilstand |
| VPS13Dvacuolar protein sorting 13 homolog D | Ofte (30–79 %) | I 2 tilstande |
| VPS41VPS41 subunit of HOPS complex | Ofte (30–79 %) | I 1 tilstand |
| VRK1VRK serine/threonine kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| VWA1von Willebrand factor A domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| WASHC5WASH complex subunit 5 | Ofte (30–79 %) | I 2 tilstande |
| WSB2WD repeat and SOCS box containing 2 | Ofte (30–79 %) | I 1 tilstand |
| AAASaladin WD repeat nucleoporin | Nogle gange (5–29 %) | I 1 tilstand |
| ACTA1actin alpha 1, skeletal muscle | Nogle gange (5–29 %) | I 3 tilstande |
| ADPRSADP-ribosylserine hydrolase | Nogle gange (5–29 %) | I 1 tilstand |
| ANOS1anosmin 1 | Nogle gange (5–29 %) | I 2 tilstande |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Nogle gange (5–29 %) | I 1 tilstand |
| ATG7autophagy related 7 | Nogle gange (5–29 %) | I 1 tilstand |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Nogle gange (5–29 %) | I 1 tilstand |
| BICD2BICD cargo adaptor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| BIN1bridging integrator 1 | Nogle gange (5–29 %) | I 2 tilstande |
| CARS1cysteinyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CCDC141coiled-coil domain containing 141 | Nogle gange (5–29 %) | I 1 tilstand |
| CHD7chromodomain helicase DNA binding protein 7 | Nogle gange (5–29 %) | I 1 tilstand |
| CNTNAP2contactin associated protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| CPT1Ccarnitine palmitoyltransferase 1C | Nogle gange (5–29 %) | I 1 tilstand |
| DCCDCC netrin 1 receptor | Nogle gange (5–29 %) | I 1 tilstand |
| DDHD2DDHD domain containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| DHHdesert hedgehog signaling molecule | Nogle gange (5–29 %) | I 1 tilstand |
| DUSP6dual specificity phosphatase 6 | Nogle gange (5–29 %) | I 1 tilstand |
| DYSFdysferlin | Nogle gange (5–29 %) | I 1 tilstand |
| EIF2AK2eukaryotic translation initiation factor 2 alpha kinase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| EMX2empty spiracles homeobox 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ERCC5ERCC excision repair 5, endonuclease | Nogle gange (5–29 %) | I 1 tilstand |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Nogle gange (5–29 %) | I 2 tilstande |
| FBXO38F-box protein 38 | Nogle gange (5–29 %) | I 1 tilstand |
| FEZF1FEZ family zinc finger 1 | Nogle gange (5–29 %) | I 1 tilstand |
| FGF17fibroblast growth factor 17 | Nogle gange (5–29 %) | I 1 tilstand |
| FGF8fibroblast growth factor 8 | Nogle gange (5–29 %) | I 1 tilstand |
| FGFR1fibroblast growth factor receptor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| FLNAfilamin A | Nogle gange (5–29 %) | I 1 tilstand |
| FLRT3fibronectin leucine rich transmembrane protein 3 | Nogle gange (5–29 %) | I 1 tilstand |
| GALCgalactosylceramidase | Nogle gange (5–29 %) | I 2 tilstande |
| GARS1glycyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 3 tilstande |
| GBA1glucosylceramidase beta 1 | Nogle gange (5–29 %) | I 2 tilstande |
| GMPPAGDP-mannose pyrophosphorylase A | Nogle gange (5–29 %) | I 1 tilstand |
| GOSR2golgi SNAP receptor complex member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Nogle gange (5–29 %) | I 2 tilstande |
| GTF2E2general transcription factor IIE subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GTPBP2GTP binding protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| H3-3BH3.3 histone B | Nogle gange (5–29 %) | I 1 tilstand |
| HACD13-hydroxyacyl-CoA dehydratase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Nogle gange (5–29 %) | I 1 tilstand |
| HADHBhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | Nogle gange (5–29 %) | I 1 tilstand |
| HESX1HESX homeobox 1 | Nogle gange (5–29 %) | I 1 tilstand |
| HINT1histidine triad nucleotide binding protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| HS6ST1heparan sulfate 6-O-sulfotransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| HSPD1heat shock protein family D (Hsp60) member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| IL17RDinterleukin 17 receptor D | Nogle gange (5–29 %) | I 1 tilstand |
| ITGA7integrin subunit alpha 7 | Nogle gange (5–29 %) | I 1 tilstand |
| KBTBD13kelch repeat and BTB domain containing 13 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Nogle gange (5–29 %) | I 1 tilstand |
| KLHL41kelch like family member 41 | Nogle gange (5–29 %) | I 1 tilstand |
| KPNA3karyopherin subunit alpha 3 | Nogle gange (5–29 %) | I 1 tilstand |
| LONP1lon peptidase 1, mitochondrial | Nogle gange (5–29 %) | I 1 tilstand |
| MAFBMAF bZIP transcription factor B | Nogle gange (5–29 %) | I 1 tilstand |
| MAP1Bmicrotubule associated protein 1B | Nogle gange (5–29 %) | I 1 tilstand |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Nogle gange (5–29 %) | I 1 tilstand |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Nogle gange (5–29 %) | I 1 tilstand |
| MED25mediator complex subunit 25 | Nogle gange (5–29 %) | I 1 tilstand |
| MORC2MORC family CW-type zinc finger 2 | Nogle gange (5–29 %) | I 2 tilstande |
| MRE11MRE11 double strand break repair nuclease | Nogle gange (5–29 %) | I 1 tilstand |
| MTTPmicrosomal triglyceride transfer protein | Nogle gange (5–29 %) | I 1 tilstand |
| MYL2myosin light chain 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MYPNmyopalladin | Nogle gange (5–29 %) | I 2 tilstande |
| NARS1asparaginyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NDNFneuron derived neurotrophic factor | Nogle gange (5–29 %) | I 1 tilstand |
| NEBnebulin | Nogle gange (5–29 %) | I 1 tilstand |
| NF1neurofibromin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NFIXnuclear factor I X | Nogle gange (5–29 %) | I 1 tilstand |
| NLRP3NLR family pyrin domain containing 3 | Nogle gange (5–29 %) | I 1 tilstand |
| NSD1nuclear receptor binding SET domain protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| OPA1OPA1 mitochondrial dynamin like GTPase | Nogle gange (5–29 %) | I 2 tilstande |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Nogle gange (5–29 %) | I 1 tilstand |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PEX2peroxisomal biogenesis factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PEX5peroxisomal biogenesis factor 5 | Nogle gange (5–29 %) | I 1 tilstand |
| PEX7peroxisomal biogenesis factor 7 | Nogle gange (5–29 %) | I 3 tilstande |
| PHYHphytanoyl-CoA 2-hydroxylase | Nogle gange (5–29 %) | I 2 tilstande |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Nogle gange (5–29 %) | I 1 tilstand |
| PMPCApeptidase, mitochondrial processing subunit alpha | Nogle gange (5–29 %) | I 1 tilstand |
| PNKPpolynucleotide kinase 3'-phosphatase | Nogle gange (5–29 %) | I 1 tilstand |
| POLGDNA polymerase gamma, catalytic subunit | Nogle gange (5–29 %) | I 2 tilstande |
| PROK2prokineticin 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PROKR2prokineticin receptor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PYROXD1pyridine nucleotide-disulphide oxidoreductase domain 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RAB11BRAB11B, member RAS oncogene family | Nogle gange (5–29 %) | I 1 tilstand |
| RSPRY1ring finger and SPRY domain containing 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RYR1ryanodine receptor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SAMD9Lsterile alpha motif domain containing 9 like | Nogle gange (5–29 %) | I 1 tilstand |
| SELENONselenoprotein N | Nogle gange (5–29 %) | I 1 tilstand |
| SEMA3Asemaphorin 3A | Nogle gange (5–29 %) | I 1 tilstand |
| SETBP1SET binding protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC25A46solute carrier family 25 member 46 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC33A1solute carrier family 33 member 1 | Nogle gange (5–29 %) | I 2 tilstande |
| SOX10SRY-box transcription factor 10 | Nogle gange (5–29 %) | I 2 tilstande |
| SPASTspastin | Nogle gange (5–29 %) | I 1 tilstand |
| SPEGstriated muscle enriched protein kinase | Nogle gange (5–29 %) | I 1 tilstand |
| SPENspen family transcriptional repressor | Nogle gange (5–29 %) | I 1 tilstand |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Nogle gange (5–29 %) | I 2 tilstande |
| SPRY4sprouty RTK signaling antagonist 4 | Nogle gange (5–29 %) | I 1 tilstand |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Nogle gange (5–29 %) | I 1 tilstand |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Nogle gange (5–29 %) | I 2 tilstande |
| TACR3tachykinin receptor 3 | Nogle gange (5–29 %) | I 1 tilstand |
| TNNT1troponin T1, slow skeletal type | Nogle gange (5–29 %) | I 1 tilstand |
| TPM2tropomyosin 2 | Nogle gange (5–29 %) | I 2 tilstande |
| TPM3tropomyosin 3 | Nogle gange (5–29 %) | I 3 tilstande |
| TRAPPC11trafficking protein particle complex subunit 11 | Nogle gange (5–29 %) | I 1 tilstand |
| TTNtitin | Nogle gange (5–29 %) | I 1 tilstand |
| TWNKtwinkle mtDNA helicase | Nogle gange (5–29 %) | I 2 tilstande |
| USP9Xubiquitin specific peptidase 9 X-linked | Nogle gange (5–29 %) | I 2 tilstande |
| VAMP1vesicle associated membrane protein 1 | Nogle gange (5–29 %) | I 2 tilstande |
| WDR11WD repeat domain 11 | Nogle gange (5–29 %) | I 1 tilstand |
| WDR26WD repeat domain 26 | Nogle gange (5–29 %) | I 2 tilstande |
| ZFYVE26zinc finger FYVE-type containing 26 | Nogle gange (5–29 %) | I 2 tilstande |
| CTCFCCCTC-binding factor | Sjældent (1–4%) | I 1 tilstand |
| DNM1Ldynamin 1L | Sjældent (1–4%) | I 1 tilstand |
| HEXBhexosaminidase subunit beta | Sjældent (1–4%) | I 1 tilstand |
| PPIBpeptidylprolyl isomerase B | Sjældent (1–4%) | I 1 tilstand |
| AARS1alanyl-tRNA synthetase 1 | Ikke registreret | I 1 tilstand |
| ABHD12abhydrolase domain containing 12, lysophospholipase | Ikke registreret | I 1 tilstand |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Ikke registreret | I 1 tilstand |
| ATL1atlastin GTPase 1 | Ikke registreret | I 2 tilstande |
| ATP1A1ATPase Na+/K+ transporting subunit alpha 1 | Ikke registreret | I 1 tilstand |
| ATP7AATPase copper transporting alpha | Ikke registreret | I 1 tilstand |
| B3GLCTbeta 3-glucosyltransferase | Ikke registreret | I 1 tilstand |
| C19orf12chromosome 19 open reading frame 12 | Ikke registreret | I 2 tilstande |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Ikke registreret | I 1 tilstand |
| CHMP1Acharged multivesicular body protein 1A | Ikke registreret | I 1 tilstand |
| COA7cytochrome c oxidase assembly factor 7 | Ikke registreret | I 1 tilstand |
| COQ8Acoenzyme Q8A | Ikke registreret | I 1 tilstand |
| COX6A1cytochrome c oxidase subunit 6A1 | Ikke registreret | I 1 tilstand |
| CTDP1CTD phosphatase 1 | Ikke registreret | I 1 tilstand |
| DCAF8DDB1 and CUL4 associated factor 8 | Ikke registreret | I 1 tilstand |
| DNM2dynamin 2 | Ikke registreret | I 1 tilstand |
| EGR2early growth response 2 | Ikke registreret | I 1 tilstand |
| ERLIN2ER lipid raft associated 2 | Ikke registreret | I 1 tilstand |
| FBLN5fibulin 5 | Ikke registreret | I 1 tilstand |
| FDX2ferredoxin 2 | Ikke registreret | I 1 tilstand |
| FGD4FYVE, RhoGEF and PH domain containing 4 | Ikke registreret | I 1 tilstand |
| GJB2gap junction protein beta 2 | Ikke registreret | I 2 tilstande |
| GNB4G protein subunit beta 4 | Ikke registreret | I 1 tilstand |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Ikke registreret | I 1 tilstand |
| IDSiduronate 2-sulfatase | Ikke registreret | I 1 tilstand |
| IDUAalpha-L-iduronidase | Ikke registreret | I 1 tilstand |
| IFIH1interferon induced with helicase C domain 1 | Ikke registreret | I 1 tilstand |
| INF2inverted formin 2 | Ikke registreret | I 1 tilstand |
| KARS1lysyl-tRNA synthetase 1 | Ikke registreret | I 1 tilstand |
| KIF1Bkinesin family member 1B | Ikke registreret | I 1 tilstand |
| L1CAML1 cell adhesion molecule | Ikke registreret | I 1 tilstand |
| LRSAM1leucine rich repeat and sterile alpha motif containing 1 | Ikke registreret | I 1 tilstand |
| MECP2methyl-CpG binding protein 2 | Ikke registreret | I 1 tilstand |
| MMP2matrix metallopeptidase 2 | Ikke registreret | I 1 tilstand |
| MPV17mitochondrial inner membrane protein MPV17 | Ikke registreret | I 1 tilstand |
| MYH7myosin heavy chain 7 | Ikke registreret | I 1 tilstand |
| NEFHneurofilament heavy chain | Ikke registreret | I 1 tilstand |
| PCGF2polycomb group ring finger 2 | Ikke registreret | I 1 tilstand |
| PCNAproliferating cell nuclear antigen | Ikke registreret | I 1 tilstand |
| PLIN4perilipin 4 | Ikke registreret | I 1 tilstand |
| PLP1proteolipid protein 1 | Ikke registreret | I 1 tilstand |
| PQBP1polyglutamine binding protein 1 | Ikke registreret | I 1 tilstand |
| PRXperiaxin | Ikke registreret | I 2 tilstande |
| RETret proto-oncogene | Ikke registreret | I 1 tilstand |
| SIGMAR1sigma receptor chaperone 1 | Ikke registreret | I 1 tilstand |
| SLC5A7solute carrier family 5 member 7 | Ikke registreret | I 1 tilstand |
| SLC6A8solute carrier family 6 member 8 | Ikke registreret | I 1 tilstand |
| SORDsorbitol dehydrogenase | Ikke registreret | I 1 tilstand |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Ikke registreret | I 1 tilstand |
| VPS13Avacuolar protein sorting 13 homolog A | Ikke registreret | I 1 tilstand |
| WARS1tryptophanyl-tRNA synthetase 1 | Ikke registreret | I 1 tilstand |
| WDR73WD repeat domain 73 | Ikke registreret | I 1 tilstand |
| ZBTB20zinc finger and BTB domain containing 20 | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
Bredere træk
Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
Én test. Svar for hele livet.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger