Cecha
High-arched foot
Nazwa kliniczna: 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).
Podsumowanie
- Znana także jako
- Cavus foot
- Układ organizmu
- Abnormality of limbs
Genom referencyjnyGRCh38hg38
Pozycje na stronach genów i wariantów zależą od tego wyboru, w tej przeglądarce.
Read the genes linked to High-arched foot, and the rest of your genome, with one test.
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Zamawiam Genome Test315 genów powiązanych z High-arched foot
Zmiany w tych genach powodują rzadkie choroby, w których występuje High-arched foot. Większość osób z tą cechą nie ma żadnej z tych chorób, a gen z tej listy nic nie mówi o czyimkolwiek własnym genomie.
| Gen | Jak często występuje | Choroby |
|---|---|---|
| ADCY6adenylate cyclase 6 | Zawsze | W 1 chorobie |
| BAG3BAG cochaperone 3 | Zawsze | W 2 chorobach |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Zawsze | W 3 chorobach |
| CHP1calcineurin like EF-hand protein 1 | Zawsze | W 1 chorobie |
| COL6A1collagen type VI alpha 1 chain | Zawsze | W 1 chorobie |
| COQ7coenzyme Q7, hydroxylase | Zawsze | W 1 chorobie |
| COX18cytochrome c oxidase assembly factor COX18 | Zawsze | W 1 chorobie |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Zawsze | W 1 chorobie |
| DHTKD1dehydrogenase E1 and transketolase domain containing 1 | Zawsze | W 1 chorobie |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Zawsze | W 1 chorobie |
| FEM1Bfem-1 homolog B | Zawsze | W 1 chorobie |
| GJC2gap junction protein gamma 2 | Zawsze | W 2 chorobach |
| GTF3C3general transcription factor IIIC subunit 3 | Zawsze | W 1 chorobie |
| GTPBP1GTP binding protein 1 | Zawsze | W 1 chorobie |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Zawsze | W 1 chorobie |
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Zawsze | W 2 chorobach |
| JKAMPJNK1/MAPK8 associated membrane protein | Zawsze | W 1 chorobie |
| KYkyphoscoliosis peptidase | Zawsze | W 1 chorobie |
| LBRlamin B receptor | Zawsze | W 1 chorobie |
| LIPElipase E, hormone sensitive type | Zawsze | W 1 chorobie |
| MAD1L1mitotic arrest deficient 1 like 1 | Zawsze | W 1 chorobie |
| MPZmyelin protein zero | Zawsze | W 6 chorobach |
| MYMXmyomixer, myoblast fusion factor | Zawsze | W 1 chorobie |
| NDC1NDC1 transmembrane nucleoporin | Zawsze | W 1 chorobie |
| NDRG1N-myc downstream regulated 1 | Zawsze | W 2 chorobach |
| NEFLneurofilament light chain | Zawsze | W 5 chorobach |
| PDXKpyridoxal kinase | Zawsze | W 1 chorobie |
| PLEKHG5pleckstrin homology and RhoGEF domain containing G5 | Zawsze | W 1 chorobie |
| PMP2peripheral myelin protein 2 | Zawsze | W 1 chorobie |
| PNPLA6patatin like domain 6, lysophospholipase | Zawsze | W 1 chorobie |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Zawsze | W 1 chorobie |
| RAB7ARAB7A, member RAS oncogene family | Zawsze | W 1 chorobie |
| REEP1receptor accessory protein 1 | Zawsze | W 4 chorobach |
| RFC4replication factor C subunit 4 | Zawsze | W 1 chorobie |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Zawsze | W 1 chorobie |
| SCO2synthesis of cytochrome C oxidase 2 | Zawsze | W 1 chorobie |
| SGSM3small G protein signaling modulator 3 | Zawsze | W 1 chorobie |
| SPARTspartin | Zawsze | W 2 chorobach |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Zawsze | W 2 chorobach |
| TDP1tyrosyl-DNA phosphodiesterase 1 | Zawsze | W 2 chorobach |
Pokaż jeszcze 275 genów
| Gen | Jak często występuje | Choroby |
|---|---|---|
| TRIM2tripartite motif containing 2 | Zawsze | W 1 chorobie |
| UCHL1ubiquitin C-terminal hydrolase L1 | Zawsze | W 1 chorobie |
| XPAXPA, DNA damage recognition and repair factor | Zawsze | W 1 chorobie |
| XRCC4X-ray repair cross complementing 4 | Zawsze | W 1 chorobie |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Bardzo często (80–99%) | W 1 chorobie |
| CUL4Bcullin 4B | Bardzo często (80–99%) | W 2 chorobach |
| DYNC1H1dynein cytoplasmic 1 heavy chain 1 | Bardzo często (80–99%) | W 1 chorobie |
| GBA2glucosylceramidase beta 2 | Bardzo często (80–99%) | W 3 chorobach |
| GDAP1ganglioside induced differentiation associated protein 1 | Bardzo często (80–99%) | W 4 chorobach |
| GJB1gap junction protein beta 1 | Bardzo często (80–99%) | W 3 chorobach |
| HDAC8histone deacetylase 8 | Bardzo często (80–99%) | W 1 chorobie |
| HK1hexokinase 1 | Bardzo często (80–99%) | W 2 chorobach |
| HSPB1heat shock protein family B (small) member 1 | Bardzo często (80–99%) | W 1 chorobie |
| LAS1LLAS1 like ribosome biogenesis factor | Bardzo często (80–99%) | W 2 chorobach |
| PDK3pyruvate dehydrogenase kinase 3 | Bardzo często (80–99%) | W 2 chorobach |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Bardzo często (80–99%) | W 2 chorobach |
| VCPvalosin containing protein | Bardzo często (80–99%) | W 2 chorobach |
| AHDC1AT-hook DNA binding motif containing 1 | Często (30–79%) | W 1 chorobie |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Często (30–79%) | W 3 chorobach |
| ANO10anoctamin 10 | Często (30–79%) | W 2 chorobach |
| APTXaprataxin | Często (30–79%) | W 1 chorobie |
| ARHGAP19Rho GTPase activating protein 19 | Często (30–79%) | W 1 chorobie |
| ATP13A2ATPase cation transporting 13A2 | Często (30–79%) | W 2 chorobach |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Często (30–79%) | W 2 chorobach |
| B4GALNT1beta-1,4-N-acetyl-galactosaminyltransferase 1 | Często (30–79%) | W 2 chorobach |
| CAPN1calpain 1 | Często (30–79%) | W 2 chorobach |
| CAV3caveolin 3 | Często (30–79%) | W 2 chorobach |
| CBScystathionine beta-synthase | Często (30–79%) | W 1 chorobie |
| COASYCoenzyme A synthase | Często (30–79%) | W 1 chorobie |
| COL13A1collagen type XIII alpha 1 chain | Często (30–79%) | W 1 chorobie |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Często (30–79%) | W 1 chorobie |
| CYP7B1cytochrome P450 family 7 subfamily B member 1 | Często (30–79%) | W 2 chorobach |
| DDHD1DDHD domain containing 1 | Często (30–79%) | W 2 chorobach |
| DMXL2Dmx like 2 | Często (30–79%) | W 1 chorobie |
| DNAJB2DnaJ heat shock protein family (Hsp40) member B2 | Często (30–79%) | W 1 chorobie |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Często (30–79%) | W 1 chorobie |
| EMILIN1elastin microfibril interfacer 1 | Często (30–79%) | W 1 chorobie |
| FBN1fibrillin 1 | Często (30–79%) | W 1 chorobie |
| FGF14fibroblast growth factor 14 | Często (30–79%) | W 2 chorobach |
| FHL1four and a half LIM domains 1 | Często (30–79%) | W 1 chorobie |
| FITM2fat storage inducing transmembrane protein 2 | Często (30–79%) | W 1 chorobie |
| FLRT1fibronectin leucine rich transmembrane protein 1 | Często (30–79%) | W 1 chorobie |
| FXNfrataxin | Często (30–79%) | W 3 chorobach |
| GANgigaxonin | Często (30–79%) | W 2 chorobach |
| GBF1golgi brefeldin A resistant guanine nucleotide exchange factor 1 | Często (30–79%) | W 1 chorobie |
| GCH1GTP cyclohydrolase 1 | Często (30–79%) | W 2 chorobach |
| GLB1galactosidase beta 1 | Często (30–79%) | W 1 chorobie |
| GNSglucosamine (N-acetyl)-6-sulfatase | Często (30–79%) | W 1 chorobie |
| HARS1histidyl-tRNA synthetase 1 | Często (30–79%) | W 2 chorobach |
| HSPB8heat shock protein family B (small) member 8 | Często (30–79%) | W 2 chorobach |
| IBA57iron-sulfur cluster assembly factor IBA57 | Często (30–79%) | W 1 chorobie |
| IFRD1interferon related developmental regulator 1 | Często (30–79%) | W 1 chorobie |
| IMPDH2inosine monophosphate dehydrogenase 2 | Często (30–79%) | W 1 chorobie |
| IQSEC2IQ motif and Sec7 domain ArfGEF 2 | Często (30–79%) | W 1 chorobie |
| JAG1jagged canonical Notch ligand 1 | Często (30–79%) | W 1 chorobie |
| KIF5Akinesin family member 5A | Często (30–79%) | W 2 chorobach |
| KLC2kinesin light chain 2 | Często (30–79%) | W 2 chorobach |
| KNSTRNkinetochore localized astrin (SPAG5) binding protein | Często (30–79%) | W 1 chorobie |
| LAMP2lysosome associated membrane protein 2 | Często (30–79%) | W 1 chorobie |
| LITAFlipopolysaccharide induced TNF factor | Często (30–79%) | W 1 chorobie |
| LMNAlamin A/C | Często (30–79%) | W 3 chorobach |
| MCM3APminichromosome maintenance complex component 3 associated protein | Często (30–79%) | W 1 chorobie |
| MFN2mitofusin 2 | Często (30–79%) | W 4 chorobach |
| MMEmembrane metalloendopeptidase | Często (30–79%) | W 2 chorobach |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Często (30–79%) | W 2 chorobach |
| MTRFRmitochondrial translation release factor in rescue | Często (30–79%) | W 1 chorobie |
| NIPA1NIPA magnesium transporter 1 | Często (30–79%) | W 2 chorobach |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Często (30–79%) | W 1 chorobie |
| NRCAMneuronal cell adhesion molecule | Często (30–79%) | W 1 chorobie |
| NSUN2NOP2/Sun RNA methyltransferase 2 | Często (30–79%) | W 1 chorobie |
| PEX10peroxisomal biogenesis factor 10 | Często (30–79%) | W 2 chorobach |
| PI4K2Aphosphatidylinositol 4-kinase type 2 alpha | Często (30–79%) | W 1 chorobie |
| PI4KAphosphatidylinositol 4-kinase alpha | Często (30–79%) | W 1 chorobie |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Często (30–79%) | W 1 chorobie |
| PLAAT3phospholipase A and acyltransferase 3 | Często (30–79%) | W 1 chorobie |
| PMP22peripheral myelin protein 22 | Często (30–79%) | W 8 chorobach |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Często (30–79%) | W 2 chorobach |
| PODXLpodocalyxin like | Często (30–79%) | W 1 chorobie |
| POLR1ARNA polymerase I subunit A | Często (30–79%) | W 1 chorobie |
| REEP2receptor accessory protein 2 | Często (30–79%) | W 2 chorobach |
| REPS1RALBP1 associated Eps domain containing 1 | Często (30–79%) | W 1 chorobie |
| RTN2reticulon 2 | Często (30–79%) | W 3 chorobach |
| RUSC2RUN and SH3 domain containing 2 | Często (30–79%) | W 1 chorobie |
| SACSsacsin molecular chaperone | Często (30–79%) | W 1 chorobie |
| SBF2SET binding factor 2 | Często (30–79%) | W 2 chorobach |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Często (30–79%) | W 1 chorobie |
| SETXsenataxin | Często (30–79%) | W 2 chorobach |
| SH3TC2SH3 domain and tetratricopeptide repeats 2 | Często (30–79%) | W 2 chorobach |
| SLC25A1solute carrier family 25 member 1 | Często (30–79%) | W 1 chorobie |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Często (30–79%) | W 3 chorobach |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Często (30–79%) | W 2 chorobach |
| SYNJ1synaptojanin 1 | Często (30–79%) | W 1 chorobie |
| SYT2synaptotagmin 2 | Często (30–79%) | W 1 chorobie |
| THtyrosine hydroxylase | Często (30–79%) | W 1 chorobie |
| TSPOAP1TSPO associated protein 1 | Często (30–79%) | W 1 chorobie |
| TTPAalpha tocopherol transfer protein | Często (30–79%) | W 1 chorobie |
| UBAP1ubiquitin associated protein 1 | Często (30–79%) | W 2 chorobach |
| UBE2Aubiquitin conjugating enzyme E2 A | Często (30–79%) | W 1 chorobie |
| VPS13Dvacuolar protein sorting 13 homolog D | Często (30–79%) | W 2 chorobach |
| VPS41VPS41 subunit of HOPS complex | Często (30–79%) | W 1 chorobie |
| VRK1VRK serine/threonine kinase 1 | Często (30–79%) | W 1 chorobie |
| VWA1von Willebrand factor A domain containing 1 | Często (30–79%) | W 1 chorobie |
| WASHC5WASH complex subunit 5 | Często (30–79%) | W 2 chorobach |
| WSB2WD repeat and SOCS box containing 2 | Często (30–79%) | W 1 chorobie |
| AAASaladin WD repeat nucleoporin | Czasami (5–29%) | W 1 chorobie |
| ACTA1actin alpha 1, skeletal muscle | Czasami (5–29%) | W 3 chorobach |
| ADPRSADP-ribosylserine hydrolase | Czasami (5–29%) | W 1 chorobie |
| ANOS1anosmin 1 | Czasami (5–29%) | W 2 chorobach |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Czasami (5–29%) | W 1 chorobie |
| ATG7autophagy related 7 | Czasami (5–29%) | W 1 chorobie |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Czasami (5–29%) | W 1 chorobie |
| BICD2BICD cargo adaptor 2 | Czasami (5–29%) | W 1 chorobie |
| BIN1bridging integrator 1 | Czasami (5–29%) | W 2 chorobach |
| CARS1cysteinyl-tRNA synthetase 1 | Czasami (5–29%) | W 1 chorobie |
| CCDC141coiled-coil domain containing 141 | Czasami (5–29%) | W 1 chorobie |
| CHD7chromodomain helicase DNA binding protein 7 | Czasami (5–29%) | W 1 chorobie |
| CNTNAP2contactin associated protein 2 | Czasami (5–29%) | W 1 chorobie |
| CPT1Ccarnitine palmitoyltransferase 1C | Czasami (5–29%) | W 1 chorobie |
| DCCDCC netrin 1 receptor | Czasami (5–29%) | W 1 chorobie |
| DDHD2DDHD domain containing 2 | Czasami (5–29%) | W 1 chorobie |
| DHHdesert hedgehog signaling molecule | Czasami (5–29%) | W 1 chorobie |
| DUSP6dual specificity phosphatase 6 | Czasami (5–29%) | W 1 chorobie |
| DYSFdysferlin | Czasami (5–29%) | W 1 chorobie |
| EIF2AK2eukaryotic translation initiation factor 2 alpha kinase 2 | Czasami (5–29%) | W 1 chorobie |
| EMX2empty spiracles homeobox 2 | Czasami (5–29%) | W 1 chorobie |
| ERCC5ERCC excision repair 5, endonuclease | Czasami (5–29%) | W 1 chorobie |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Czasami (5–29%) | W 2 chorobach |
| FBXO38F-box protein 38 | Czasami (5–29%) | W 1 chorobie |
| FEZF1FEZ family zinc finger 1 | Czasami (5–29%) | W 1 chorobie |
| FGF17fibroblast growth factor 17 | Czasami (5–29%) | W 1 chorobie |
| FGF8fibroblast growth factor 8 | Czasami (5–29%) | W 1 chorobie |
| FGFR1fibroblast growth factor receptor 1 | Czasami (5–29%) | W 1 chorobie |
| FLNAfilamin A | Czasami (5–29%) | W 1 chorobie |
| FLRT3fibronectin leucine rich transmembrane protein 3 | Czasami (5–29%) | W 1 chorobie |
| GALCgalactosylceramidase | Czasami (5–29%) | W 2 chorobach |
| GARS1glycyl-tRNA synthetase 1 | Czasami (5–29%) | W 3 chorobach |
| GBA1glucosylceramidase beta 1 | Czasami (5–29%) | W 2 chorobach |
| GMPPAGDP-mannose pyrophosphorylase A | Czasami (5–29%) | W 1 chorobie |
| GOSR2golgi SNAP receptor complex member 2 | Czasami (5–29%) | W 1 chorobie |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Czasami (5–29%) | W 2 chorobach |
| GTF2E2general transcription factor IIE subunit 2 | Czasami (5–29%) | W 1 chorobie |
| GTPBP2GTP binding protein 2 | Czasami (5–29%) | W 1 chorobie |
| H3-3BH3.3 histone B | Czasami (5–29%) | W 1 chorobie |
| HACD13-hydroxyacyl-CoA dehydratase 1 | Czasami (5–29%) | W 1 chorobie |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Czasami (5–29%) | W 1 chorobie |
| HADHBhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | Czasami (5–29%) | W 1 chorobie |
| HESX1HESX homeobox 1 | Czasami (5–29%) | W 1 chorobie |
| HINT1histidine triad nucleotide binding protein 1 | Czasami (5–29%) | W 1 chorobie |
| HS6ST1heparan sulfate 6-O-sulfotransferase 1 | Czasami (5–29%) | W 1 chorobie |
| HSPD1heat shock protein family D (Hsp60) member 1 | Czasami (5–29%) | W 1 chorobie |
| IL17RDinterleukin 17 receptor D | Czasami (5–29%) | W 1 chorobie |
| ITGA7integrin subunit alpha 7 | Czasami (5–29%) | W 1 chorobie |
| KBTBD13kelch repeat and BTB domain containing 13 | Czasami (5–29%) | W 1 chorobie |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Czasami (5–29%) | W 1 chorobie |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Czasami (5–29%) | W 1 chorobie |
| KLHL41kelch like family member 41 | Czasami (5–29%) | W 1 chorobie |
| KPNA3karyopherin subunit alpha 3 | Czasami (5–29%) | W 1 chorobie |
| LONP1lon peptidase 1, mitochondrial | Czasami (5–29%) | W 1 chorobie |
| MAFBMAF bZIP transcription factor B | Czasami (5–29%) | W 1 chorobie |
| MAP1Bmicrotubule associated protein 1B | Czasami (5–29%) | W 1 chorobie |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Czasami (5–29%) | W 1 chorobie |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Czasami (5–29%) | W 1 chorobie |
| MED25mediator complex subunit 25 | Czasami (5–29%) | W 1 chorobie |
| MORC2MORC family CW-type zinc finger 2 | Czasami (5–29%) | W 2 chorobach |
| MRE11MRE11 double strand break repair nuclease | Czasami (5–29%) | W 1 chorobie |
| MTTPmicrosomal triglyceride transfer protein | Czasami (5–29%) | W 1 chorobie |
| MYL2myosin light chain 2 | Czasami (5–29%) | W 1 chorobie |
| MYPNmyopalladin | Czasami (5–29%) | W 2 chorobach |
| NARS1asparaginyl-tRNA synthetase 1 | Czasami (5–29%) | W 1 chorobie |
| NDNFneuron derived neurotrophic factor | Czasami (5–29%) | W 1 chorobie |
| NEBnebulin | Czasami (5–29%) | W 1 chorobie |
| NF1neurofibromin 1 | Czasami (5–29%) | W 1 chorobie |
| NFIXnuclear factor I X | Czasami (5–29%) | W 1 chorobie |
| NLRP3NLR family pyrin domain containing 3 | Czasami (5–29%) | W 1 chorobie |
| NSD1nuclear receptor binding SET domain protein 1 | Czasami (5–29%) | W 1 chorobie |
| OPA1OPA1 mitochondrial dynamin like GTPase | Czasami (5–29%) | W 2 chorobach |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Czasami (5–29%) | W 1 chorobie |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Czasami (5–29%) | W 1 chorobie |
| PEX2peroxisomal biogenesis factor 2 | Czasami (5–29%) | W 1 chorobie |
| PEX5peroxisomal biogenesis factor 5 | Czasami (5–29%) | W 1 chorobie |
| PEX7peroxisomal biogenesis factor 7 | Czasami (5–29%) | W 3 chorobach |
| PHYHphytanoyl-CoA 2-hydroxylase | Czasami (5–29%) | W 2 chorobach |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Czasami (5–29%) | W 1 chorobie |
| PMPCApeptidase, mitochondrial processing subunit alpha | Czasami (5–29%) | W 1 chorobie |
| PNKPpolynucleotide kinase 3'-phosphatase | Czasami (5–29%) | W 1 chorobie |
| POLGDNA polymerase gamma, catalytic subunit | Czasami (5–29%) | W 2 chorobach |
| PROK2prokineticin 2 | Czasami (5–29%) | W 1 chorobie |
| PROKR2prokineticin receptor 2 | Czasami (5–29%) | W 1 chorobie |
| PYROXD1pyridine nucleotide-disulphide oxidoreductase domain 1 | Czasami (5–29%) | W 1 chorobie |
| RAB11BRAB11B, member RAS oncogene family | Czasami (5–29%) | W 1 chorobie |
| RSPRY1ring finger and SPRY domain containing 1 | Czasami (5–29%) | W 1 chorobie |
| RYR1ryanodine receptor 1 | Czasami (5–29%) | W 1 chorobie |
| SAMD9Lsterile alpha motif domain containing 9 like | Czasami (5–29%) | W 1 chorobie |
| SELENONselenoprotein N | Czasami (5–29%) | W 1 chorobie |
| SEMA3Asemaphorin 3A | Czasami (5–29%) | W 1 chorobie |
| SETBP1SET binding protein 1 | Czasami (5–29%) | W 1 chorobie |
| SLC25A46solute carrier family 25 member 46 | Czasami (5–29%) | W 1 chorobie |
| SLC33A1solute carrier family 33 member 1 | Czasami (5–29%) | W 2 chorobach |
| SOX10SRY-box transcription factor 10 | Czasami (5–29%) | W 2 chorobach |
| SPASTspastin | Czasami (5–29%) | W 1 chorobie |
| SPEGstriated muscle enriched protein kinase | Czasami (5–29%) | W 1 chorobie |
| SPENspen family transcriptional repressor | Czasami (5–29%) | W 1 chorobie |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Czasami (5–29%) | W 2 chorobach |
| SPRY4sprouty RTK signaling antagonist 4 | Czasami (5–29%) | W 1 chorobie |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Czasami (5–29%) | W 1 chorobie |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Czasami (5–29%) | W 2 chorobach |
| TACR3tachykinin receptor 3 | Czasami (5–29%) | W 1 chorobie |
| TNNT1troponin T1, slow skeletal type | Czasami (5–29%) | W 1 chorobie |
| TPM2tropomyosin 2 | Czasami (5–29%) | W 2 chorobach |
| TPM3tropomyosin 3 | Czasami (5–29%) | W 3 chorobach |
| TRAPPC11trafficking protein particle complex subunit 11 | Czasami (5–29%) | W 1 chorobie |
| TTNtitin | Czasami (5–29%) | W 1 chorobie |
| TWNKtwinkle mtDNA helicase | Czasami (5–29%) | W 2 chorobach |
| USP9Xubiquitin specific peptidase 9 X-linked | Czasami (5–29%) | W 2 chorobach |
| VAMP1vesicle associated membrane protein 1 | Czasami (5–29%) | W 2 chorobach |
| WDR11WD repeat domain 11 | Czasami (5–29%) | W 1 chorobie |
| WDR26WD repeat domain 26 | Czasami (5–29%) | W 2 chorobach |
| ZFYVE26zinc finger FYVE-type containing 26 | Czasami (5–29%) | W 2 chorobach |
| CTCFCCCTC-binding factor | Rzadko (1–4%) | W 1 chorobie |
| DNM1Ldynamin 1L | Rzadko (1–4%) | W 1 chorobie |
| HEXBhexosaminidase subunit beta | Rzadko (1–4%) | W 1 chorobie |
| PPIBpeptidylprolyl isomerase B | Rzadko (1–4%) | W 1 chorobie |
| AARS1alanyl-tRNA synthetase 1 | Nie odnotowano | W 1 chorobie |
| ABHD12abhydrolase domain containing 12, lysophospholipase | Nie odnotowano | W 1 chorobie |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Nie odnotowano | W 1 chorobie |
| ATL1atlastin GTPase 1 | Nie odnotowano | W 2 chorobach |
| ATP1A1ATPase Na+/K+ transporting subunit alpha 1 | Nie odnotowano | W 1 chorobie |
| ATP7AATPase copper transporting alpha | Nie odnotowano | W 1 chorobie |
| B3GLCTbeta 3-glucosyltransferase | Nie odnotowano | W 1 chorobie |
| C19orf12chromosome 19 open reading frame 12 | Nie odnotowano | W 2 chorobach |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Nie odnotowano | W 1 chorobie |
| CHMP1Acharged multivesicular body protein 1A | Nie odnotowano | W 1 chorobie |
| COA7cytochrome c oxidase assembly factor 7 | Nie odnotowano | W 1 chorobie |
| COQ8Acoenzyme Q8A | Nie odnotowano | W 1 chorobie |
| COX6A1cytochrome c oxidase subunit 6A1 | Nie odnotowano | W 1 chorobie |
| CTDP1CTD phosphatase 1 | Nie odnotowano | W 1 chorobie |
| DCAF8DDB1 and CUL4 associated factor 8 | Nie odnotowano | W 1 chorobie |
| DNM2dynamin 2 | Nie odnotowano | W 1 chorobie |
| EGR2early growth response 2 | Nie odnotowano | W 1 chorobie |
| ERLIN2ER lipid raft associated 2 | Nie odnotowano | W 1 chorobie |
| FBLN5fibulin 5 | Nie odnotowano | W 1 chorobie |
| FDX2ferredoxin 2 | Nie odnotowano | W 1 chorobie |
| FGD4FYVE, RhoGEF and PH domain containing 4 | Nie odnotowano | W 1 chorobie |
| GJB2gap junction protein beta 2 | Nie odnotowano | W 2 chorobach |
| GNB4G protein subunit beta 4 | Nie odnotowano | W 1 chorobie |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Nie odnotowano | W 1 chorobie |
| IDSiduronate 2-sulfatase | Nie odnotowano | W 1 chorobie |
| IDUAalpha-L-iduronidase | Nie odnotowano | W 1 chorobie |
| IFIH1interferon induced with helicase C domain 1 | Nie odnotowano | W 1 chorobie |
| INF2inverted formin 2 | Nie odnotowano | W 1 chorobie |
| KARS1lysyl-tRNA synthetase 1 | Nie odnotowano | W 1 chorobie |
| KIF1Bkinesin family member 1B | Nie odnotowano | W 1 chorobie |
| L1CAML1 cell adhesion molecule | Nie odnotowano | W 1 chorobie |
| LRSAM1leucine rich repeat and sterile alpha motif containing 1 | Nie odnotowano | W 1 chorobie |
| MECP2methyl-CpG binding protein 2 | Nie odnotowano | W 1 chorobie |
| MMP2matrix metallopeptidase 2 | Nie odnotowano | W 1 chorobie |
| MPV17mitochondrial inner membrane protein MPV17 | Nie odnotowano | W 1 chorobie |
| MYH7myosin heavy chain 7 | Nie odnotowano | W 1 chorobie |
| NEFHneurofilament heavy chain | Nie odnotowano | W 1 chorobie |
| PCGF2polycomb group ring finger 2 | Nie odnotowano | W 1 chorobie |
| PCNAproliferating cell nuclear antigen | Nie odnotowano | W 1 chorobie |
| PLIN4perilipin 4 | Nie odnotowano | W 1 chorobie |
| PLP1proteolipid protein 1 | Nie odnotowano | W 1 chorobie |
| PQBP1polyglutamine binding protein 1 | Nie odnotowano | W 1 chorobie |
| PRXperiaxin | Nie odnotowano | W 2 chorobach |
| RETret proto-oncogene | Nie odnotowano | W 1 chorobie |
| SIGMAR1sigma receptor chaperone 1 | Nie odnotowano | W 1 chorobie |
| SLC5A7solute carrier family 5 member 7 | Nie odnotowano | W 1 chorobie |
| SLC6A8solute carrier family 6 member 8 | Nie odnotowano | W 1 chorobie |
| SORDsorbitol dehydrogenase | Nie odnotowano | W 1 chorobie |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Nie odnotowano | W 1 chorobie |
| VPS13Avacuolar protein sorting 13 homolog A | Nie odnotowano | W 1 chorobie |
| WARS1tryptophanyl-tRNA synthetase 1 | Nie odnotowano | W 1 chorobie |
| WDR73WD repeat domain 73 | Nie odnotowano | W 1 chorobie |
| ZBTB20zinc finger and BTB domain containing 20 | Nie odnotowano | W 1 chorobie |
Jak często występuje wśród osób z jedną z chorób związanych z tym genem, najczęściej spośród wszystkich, według danych Human Phenotype Ontology. Te strony opisują cechy i badania, na których się opierają; nie są diagnozą, a w sprawie objawów należy zwrócić się do lekarza lub doradcy genetycznego.
Cechy nadrzędne
Skąd pochodzą te dane
- Human Phenotype Ontology, wydanie 2026-09-01: cecha, jej nazwy, definicja oraz geny z nią powiązane. Więcej informacji znajdą Państwo na stronie hpo.jax.org.
- Wydanie danych 2026.10.16-c6eea6bf.
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