Požymis
High-arched foot
Klinikinis pavadinimas: 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).
Santrauka
- Taip pat vadinama
- Cavus foot
- Kūno sistema
- Abnormality of limbs
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
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Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia High-arched foot. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| ADCY6adenylate cyclase 6 | Visada | 1 ligoje |
| BAG3BAG cochaperone 3 | Visada | 2 ligose |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Visada | 3 ligose |
| CHP1calcineurin like EF-hand protein 1 | Visada | 1 ligoje |
| COL6A1collagen type VI alpha 1 chain | Visada | 1 ligoje |
| COQ7coenzyme Q7, hydroxylase | Visada | 1 ligoje |
| COX18cytochrome c oxidase assembly factor COX18 | Visada | 1 ligoje |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Visada | 1 ligoje |
| DHTKD1dehydrogenase E1 and transketolase domain containing 1 | Visada | 1 ligoje |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Visada | 1 ligoje |
| FEM1Bfem-1 homolog B | Visada | 1 ligoje |
| GJC2gap junction protein gamma 2 | Visada | 2 ligose |
| GTF3C3general transcription factor IIIC subunit 3 | Visada | 1 ligoje |
| GTPBP1GTP binding protein 1 | Visada | 1 ligoje |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Visada | 1 ligoje |
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Visada | 2 ligose |
| JKAMPJNK1/MAPK8 associated membrane protein | Visada | 1 ligoje |
| KYkyphoscoliosis peptidase | Visada | 1 ligoje |
| LBRlamin B receptor | Visada | 1 ligoje |
| LIPElipase E, hormone sensitive type | Visada | 1 ligoje |
| MAD1L1mitotic arrest deficient 1 like 1 | Visada | 1 ligoje |
| MPZmyelin protein zero | Visada | 6 ligose |
| MYMXmyomixer, myoblast fusion factor | Visada | 1 ligoje |
| NDC1NDC1 transmembrane nucleoporin | Visada | 1 ligoje |
| NDRG1N-myc downstream regulated 1 | Visada | 2 ligose |
| NEFLneurofilament light chain | Visada | 5 ligose |
| PDXKpyridoxal kinase | Visada | 1 ligoje |
| PLEKHG5pleckstrin homology and RhoGEF domain containing G5 | Visada | 1 ligoje |
| PMP2peripheral myelin protein 2 | Visada | 1 ligoje |
| PNPLA6patatin like domain 6, lysophospholipase | Visada | 1 ligoje |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Visada | 1 ligoje |
| RAB7ARAB7A, member RAS oncogene family | Visada | 1 ligoje |
| REEP1receptor accessory protein 1 | Visada | 4 ligose |
| RFC4replication factor C subunit 4 | Visada | 1 ligoje |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Visada | 1 ligoje |
| SCO2synthesis of cytochrome C oxidase 2 | Visada | 1 ligoje |
| SGSM3small G protein signaling modulator 3 | Visada | 1 ligoje |
| SPARTspartin | Visada | 2 ligose |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Visada | 2 ligose |
| TDP1tyrosyl-DNA phosphodiesterase 1 | Visada | 2 ligose |
Rodyti dar 275 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| TRIM2tripartite motif containing 2 | Visada | 1 ligoje |
| UCHL1ubiquitin C-terminal hydrolase L1 | Visada | 1 ligoje |
| XPAXPA, DNA damage recognition and repair factor | Visada | 1 ligoje |
| XRCC4X-ray repair cross complementing 4 | Visada | 1 ligoje |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Labai dažnai (80–99%) | 1 ligoje |
| CUL4Bcullin 4B | Labai dažnai (80–99%) | 2 ligose |
| DYNC1H1dynein cytoplasmic 1 heavy chain 1 | Labai dažnai (80–99%) | 1 ligoje |
| GBA2glucosylceramidase beta 2 | Labai dažnai (80–99%) | 3 ligose |
| GDAP1ganglioside induced differentiation associated protein 1 | Labai dažnai (80–99%) | 4 ligose |
| GJB1gap junction protein beta 1 | Labai dažnai (80–99%) | 3 ligose |
| HDAC8histone deacetylase 8 | Labai dažnai (80–99%) | 1 ligoje |
| HK1hexokinase 1 | Labai dažnai (80–99%) | 2 ligose |
| HSPB1heat shock protein family B (small) member 1 | Labai dažnai (80–99%) | 1 ligoje |
| LAS1LLAS1 like ribosome biogenesis factor | Labai dažnai (80–99%) | 2 ligose |
| PDK3pyruvate dehydrogenase kinase 3 | Labai dažnai (80–99%) | 2 ligose |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Labai dažnai (80–99%) | 2 ligose |
| VCPvalosin containing protein | Labai dažnai (80–99%) | 2 ligose |
| AHDC1AT-hook DNA binding motif containing 1 | Dažnai (30–79%) | 1 ligoje |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Dažnai (30–79%) | 3 ligose |
| ANO10anoctamin 10 | Dažnai (30–79%) | 2 ligose |
| APTXaprataxin | Dažnai (30–79%) | 1 ligoje |
| ARHGAP19Rho GTPase activating protein 19 | Dažnai (30–79%) | 1 ligoje |
| ATP13A2ATPase cation transporting 13A2 | Dažnai (30–79%) | 2 ligose |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Dažnai (30–79%) | 2 ligose |
| B4GALNT1beta-1,4-N-acetyl-galactosaminyltransferase 1 | Dažnai (30–79%) | 2 ligose |
| CAPN1calpain 1 | Dažnai (30–79%) | 2 ligose |
| CAV3caveolin 3 | Dažnai (30–79%) | 2 ligose |
| CBScystathionine beta-synthase | Dažnai (30–79%) | 1 ligoje |
| COASYCoenzyme A synthase | Dažnai (30–79%) | 1 ligoje |
| COL13A1collagen type XIII alpha 1 chain | Dažnai (30–79%) | 1 ligoje |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Dažnai (30–79%) | 1 ligoje |
| CYP7B1cytochrome P450 family 7 subfamily B member 1 | Dažnai (30–79%) | 2 ligose |
| DDHD1DDHD domain containing 1 | Dažnai (30–79%) | 2 ligose |
| DMXL2Dmx like 2 | Dažnai (30–79%) | 1 ligoje |
| DNAJB2DnaJ heat shock protein family (Hsp40) member B2 | Dažnai (30–79%) | 1 ligoje |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Dažnai (30–79%) | 1 ligoje |
| EMILIN1elastin microfibril interfacer 1 | Dažnai (30–79%) | 1 ligoje |
| FBN1fibrillin 1 | Dažnai (30–79%) | 1 ligoje |
| FGF14fibroblast growth factor 14 | Dažnai (30–79%) | 2 ligose |
| FHL1four and a half LIM domains 1 | Dažnai (30–79%) | 1 ligoje |
| FITM2fat storage inducing transmembrane protein 2 | Dažnai (30–79%) | 1 ligoje |
| FLRT1fibronectin leucine rich transmembrane protein 1 | Dažnai (30–79%) | 1 ligoje |
| FXNfrataxin | Dažnai (30–79%) | 3 ligose |
| GANgigaxonin | Dažnai (30–79%) | 2 ligose |
| GBF1golgi brefeldin A resistant guanine nucleotide exchange factor 1 | Dažnai (30–79%) | 1 ligoje |
| GCH1GTP cyclohydrolase 1 | Dažnai (30–79%) | 2 ligose |
| GLB1galactosidase beta 1 | Dažnai (30–79%) | 1 ligoje |
| GNSglucosamine (N-acetyl)-6-sulfatase | Dažnai (30–79%) | 1 ligoje |
| HARS1histidyl-tRNA synthetase 1 | Dažnai (30–79%) | 2 ligose |
| HSPB8heat shock protein family B (small) member 8 | Dažnai (30–79%) | 2 ligose |
| IBA57iron-sulfur cluster assembly factor IBA57 | Dažnai (30–79%) | 1 ligoje |
| IFRD1interferon related developmental regulator 1 | Dažnai (30–79%) | 1 ligoje |
| IMPDH2inosine monophosphate dehydrogenase 2 | Dažnai (30–79%) | 1 ligoje |
| IQSEC2IQ motif and Sec7 domain ArfGEF 2 | Dažnai (30–79%) | 1 ligoje |
| JAG1jagged canonical Notch ligand 1 | Dažnai (30–79%) | 1 ligoje |
| KIF5Akinesin family member 5A | Dažnai (30–79%) | 2 ligose |
| KLC2kinesin light chain 2 | Dažnai (30–79%) | 2 ligose |
| KNSTRNkinetochore localized astrin (SPAG5) binding protein | Dažnai (30–79%) | 1 ligoje |
| LAMP2lysosome associated membrane protein 2 | Dažnai (30–79%) | 1 ligoje |
| LITAFlipopolysaccharide induced TNF factor | Dažnai (30–79%) | 1 ligoje |
| LMNAlamin A/C | Dažnai (30–79%) | 3 ligose |
| MCM3APminichromosome maintenance complex component 3 associated protein | Dažnai (30–79%) | 1 ligoje |
| MFN2mitofusin 2 | Dažnai (30–79%) | 4 ligose |
| MMEmembrane metalloendopeptidase | Dažnai (30–79%) | 2 ligose |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Dažnai (30–79%) | 2 ligose |
| MTRFRmitochondrial translation release factor in rescue | Dažnai (30–79%) | 1 ligoje |
| NIPA1NIPA magnesium transporter 1 | Dažnai (30–79%) | 2 ligose |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Dažnai (30–79%) | 1 ligoje |
| NRCAMneuronal cell adhesion molecule | Dažnai (30–79%) | 1 ligoje |
| NSUN2NOP2/Sun RNA methyltransferase 2 | Dažnai (30–79%) | 1 ligoje |
| PEX10peroxisomal biogenesis factor 10 | Dažnai (30–79%) | 2 ligose |
| PI4K2Aphosphatidylinositol 4-kinase type 2 alpha | Dažnai (30–79%) | 1 ligoje |
| PI4KAphosphatidylinositol 4-kinase alpha | Dažnai (30–79%) | 1 ligoje |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Dažnai (30–79%) | 1 ligoje |
| PLAAT3phospholipase A and acyltransferase 3 | Dažnai (30–79%) | 1 ligoje |
| PMP22peripheral myelin protein 22 | Dažnai (30–79%) | 8 ligose |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Dažnai (30–79%) | 2 ligose |
| PODXLpodocalyxin like | Dažnai (30–79%) | 1 ligoje |
| POLR1ARNA polymerase I subunit A | Dažnai (30–79%) | 1 ligoje |
| REEP2receptor accessory protein 2 | Dažnai (30–79%) | 2 ligose |
| REPS1RALBP1 associated Eps domain containing 1 | Dažnai (30–79%) | 1 ligoje |
| RTN2reticulon 2 | Dažnai (30–79%) | 3 ligose |
| RUSC2RUN and SH3 domain containing 2 | Dažnai (30–79%) | 1 ligoje |
| SACSsacsin molecular chaperone | Dažnai (30–79%) | 1 ligoje |
| SBF2SET binding factor 2 | Dažnai (30–79%) | 2 ligose |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Dažnai (30–79%) | 1 ligoje |
| SETXsenataxin | Dažnai (30–79%) | 2 ligose |
| SH3TC2SH3 domain and tetratricopeptide repeats 2 | Dažnai (30–79%) | 2 ligose |
| SLC25A1solute carrier family 25 member 1 | Dažnai (30–79%) | 1 ligoje |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Dažnai (30–79%) | 3 ligose |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Dažnai (30–79%) | 2 ligose |
| SYNJ1synaptojanin 1 | Dažnai (30–79%) | 1 ligoje |
| SYT2synaptotagmin 2 | Dažnai (30–79%) | 1 ligoje |
| THtyrosine hydroxylase | Dažnai (30–79%) | 1 ligoje |
| TSPOAP1TSPO associated protein 1 | Dažnai (30–79%) | 1 ligoje |
| TTPAalpha tocopherol transfer protein | Dažnai (30–79%) | 1 ligoje |
| UBAP1ubiquitin associated protein 1 | Dažnai (30–79%) | 2 ligose |
| UBE2Aubiquitin conjugating enzyme E2 A | Dažnai (30–79%) | 1 ligoje |
| VPS13Dvacuolar protein sorting 13 homolog D | Dažnai (30–79%) | 2 ligose |
| VPS41VPS41 subunit of HOPS complex | Dažnai (30–79%) | 1 ligoje |
| VRK1VRK serine/threonine kinase 1 | Dažnai (30–79%) | 1 ligoje |
| VWA1von Willebrand factor A domain containing 1 | Dažnai (30–79%) | 1 ligoje |
| WASHC5WASH complex subunit 5 | Dažnai (30–79%) | 2 ligose |
| WSB2WD repeat and SOCS box containing 2 | Dažnai (30–79%) | 1 ligoje |
| AAASaladin WD repeat nucleoporin | Kartais (5–29%) | 1 ligoje |
| ACTA1actin alpha 1, skeletal muscle | Kartais (5–29%) | 3 ligose |
| ADPRSADP-ribosylserine hydrolase | Kartais (5–29%) | 1 ligoje |
| ANOS1anosmin 1 | Kartais (5–29%) | 2 ligose |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Kartais (5–29%) | 1 ligoje |
| ATG7autophagy related 7 | Kartais (5–29%) | 1 ligoje |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Kartais (5–29%) | 1 ligoje |
| BICD2BICD cargo adaptor 2 | Kartais (5–29%) | 1 ligoje |
| BIN1bridging integrator 1 | Kartais (5–29%) | 2 ligose |
| CARS1cysteinyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| CCDC141coiled-coil domain containing 141 | Kartais (5–29%) | 1 ligoje |
| CHD7chromodomain helicase DNA binding protein 7 | Kartais (5–29%) | 1 ligoje |
| CNTNAP2contactin associated protein 2 | Kartais (5–29%) | 1 ligoje |
| CPT1Ccarnitine palmitoyltransferase 1C | Kartais (5–29%) | 1 ligoje |
| DCCDCC netrin 1 receptor | Kartais (5–29%) | 1 ligoje |
| DDHD2DDHD domain containing 2 | Kartais (5–29%) | 1 ligoje |
| DHHdesert hedgehog signaling molecule | Kartais (5–29%) | 1 ligoje |
| DUSP6dual specificity phosphatase 6 | Kartais (5–29%) | 1 ligoje |
| DYSFdysferlin | Kartais (5–29%) | 1 ligoje |
| EIF2AK2eukaryotic translation initiation factor 2 alpha kinase 2 | Kartais (5–29%) | 1 ligoje |
| EMX2empty spiracles homeobox 2 | Kartais (5–29%) | 1 ligoje |
| ERCC5ERCC excision repair 5, endonuclease | Kartais (5–29%) | 1 ligoje |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Kartais (5–29%) | 2 ligose |
| FBXO38F-box protein 38 | Kartais (5–29%) | 1 ligoje |
| FEZF1FEZ family zinc finger 1 | Kartais (5–29%) | 1 ligoje |
| FGF17fibroblast growth factor 17 | Kartais (5–29%) | 1 ligoje |
| FGF8fibroblast growth factor 8 | Kartais (5–29%) | 1 ligoje |
| FGFR1fibroblast growth factor receptor 1 | Kartais (5–29%) | 1 ligoje |
| FLNAfilamin A | Kartais (5–29%) | 1 ligoje |
| FLRT3fibronectin leucine rich transmembrane protein 3 | Kartais (5–29%) | 1 ligoje |
| GALCgalactosylceramidase | Kartais (5–29%) | 2 ligose |
| GARS1glycyl-tRNA synthetase 1 | Kartais (5–29%) | 3 ligose |
| GBA1glucosylceramidase beta 1 | Kartais (5–29%) | 2 ligose |
| GMPPAGDP-mannose pyrophosphorylase A | Kartais (5–29%) | 1 ligoje |
| GOSR2golgi SNAP receptor complex member 2 | Kartais (5–29%) | 1 ligoje |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Kartais (5–29%) | 2 ligose |
| GTF2E2general transcription factor IIE subunit 2 | Kartais (5–29%) | 1 ligoje |
| GTPBP2GTP binding protein 2 | Kartais (5–29%) | 1 ligoje |
| H3-3BH3.3 histone B | Kartais (5–29%) | 1 ligoje |
| HACD13-hydroxyacyl-CoA dehydratase 1 | Kartais (5–29%) | 1 ligoje |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Kartais (5–29%) | 1 ligoje |
| HADHBhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | Kartais (5–29%) | 1 ligoje |
| HESX1HESX homeobox 1 | Kartais (5–29%) | 1 ligoje |
| HINT1histidine triad nucleotide binding protein 1 | Kartais (5–29%) | 1 ligoje |
| HS6ST1heparan sulfate 6-O-sulfotransferase 1 | Kartais (5–29%) | 1 ligoje |
| HSPD1heat shock protein family D (Hsp60) member 1 | Kartais (5–29%) | 1 ligoje |
| IL17RDinterleukin 17 receptor D | Kartais (5–29%) | 1 ligoje |
| ITGA7integrin subunit alpha 7 | Kartais (5–29%) | 1 ligoje |
| KBTBD13kelch repeat and BTB domain containing 13 | Kartais (5–29%) | 1 ligoje |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Kartais (5–29%) | 1 ligoje |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Kartais (5–29%) | 1 ligoje |
| KLHL41kelch like family member 41 | Kartais (5–29%) | 1 ligoje |
| KPNA3karyopherin subunit alpha 3 | Kartais (5–29%) | 1 ligoje |
| LONP1lon peptidase 1, mitochondrial | Kartais (5–29%) | 1 ligoje |
| MAFBMAF bZIP transcription factor B | Kartais (5–29%) | 1 ligoje |
| MAP1Bmicrotubule associated protein 1B | Kartais (5–29%) | 1 ligoje |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Kartais (5–29%) | 1 ligoje |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Kartais (5–29%) | 1 ligoje |
| MED25mediator complex subunit 25 | Kartais (5–29%) | 1 ligoje |
| MORC2MORC family CW-type zinc finger 2 | Kartais (5–29%) | 2 ligose |
| MRE11MRE11 double strand break repair nuclease | Kartais (5–29%) | 1 ligoje |
| MTTPmicrosomal triglyceride transfer protein | Kartais (5–29%) | 1 ligoje |
| MYL2myosin light chain 2 | Kartais (5–29%) | 1 ligoje |
| MYPNmyopalladin | Kartais (5–29%) | 2 ligose |
| NARS1asparaginyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| NDNFneuron derived neurotrophic factor | Kartais (5–29%) | 1 ligoje |
| NEBnebulin | Kartais (5–29%) | 1 ligoje |
| NF1neurofibromin 1 | Kartais (5–29%) | 1 ligoje |
| NFIXnuclear factor I X | Kartais (5–29%) | 1 ligoje |
| NLRP3NLR family pyrin domain containing 3 | Kartais (5–29%) | 1 ligoje |
| NSD1nuclear receptor binding SET domain protein 1 | Kartais (5–29%) | 1 ligoje |
| OPA1OPA1 mitochondrial dynamin like GTPase | Kartais (5–29%) | 2 ligose |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Kartais (5–29%) | 1 ligoje |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Kartais (5–29%) | 1 ligoje |
| PEX2peroxisomal biogenesis factor 2 | Kartais (5–29%) | 1 ligoje |
| PEX5peroxisomal biogenesis factor 5 | Kartais (5–29%) | 1 ligoje |
| PEX7peroxisomal biogenesis factor 7 | Kartais (5–29%) | 3 ligose |
| PHYHphytanoyl-CoA 2-hydroxylase | Kartais (5–29%) | 2 ligose |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Kartais (5–29%) | 1 ligoje |
| PMPCApeptidase, mitochondrial processing subunit alpha | Kartais (5–29%) | 1 ligoje |
| PNKPpolynucleotide kinase 3'-phosphatase | Kartais (5–29%) | 1 ligoje |
| POLGDNA polymerase gamma, catalytic subunit | Kartais (5–29%) | 2 ligose |
| PROK2prokineticin 2 | Kartais (5–29%) | 1 ligoje |
| PROKR2prokineticin receptor 2 | Kartais (5–29%) | 1 ligoje |
| PYROXD1pyridine nucleotide-disulphide oxidoreductase domain 1 | Kartais (5–29%) | 1 ligoje |
| RAB11BRAB11B, member RAS oncogene family | Kartais (5–29%) | 1 ligoje |
| RSPRY1ring finger and SPRY domain containing 1 | Kartais (5–29%) | 1 ligoje |
| RYR1ryanodine receptor 1 | Kartais (5–29%) | 1 ligoje |
| SAMD9Lsterile alpha motif domain containing 9 like | Kartais (5–29%) | 1 ligoje |
| SELENONselenoprotein N | Kartais (5–29%) | 1 ligoje |
| SEMA3Asemaphorin 3A | Kartais (5–29%) | 1 ligoje |
| SETBP1SET binding protein 1 | Kartais (5–29%) | 1 ligoje |
| SLC25A46solute carrier family 25 member 46 | Kartais (5–29%) | 1 ligoje |
| SLC33A1solute carrier family 33 member 1 | Kartais (5–29%) | 2 ligose |
| SOX10SRY-box transcription factor 10 | Kartais (5–29%) | 2 ligose |
| SPASTspastin | Kartais (5–29%) | 1 ligoje |
| SPEGstriated muscle enriched protein kinase | Kartais (5–29%) | 1 ligoje |
| SPENspen family transcriptional repressor | Kartais (5–29%) | 1 ligoje |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Kartais (5–29%) | 2 ligose |
| SPRY4sprouty RTK signaling antagonist 4 | Kartais (5–29%) | 1 ligoje |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Kartais (5–29%) | 1 ligoje |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Kartais (5–29%) | 2 ligose |
| TACR3tachykinin receptor 3 | Kartais (5–29%) | 1 ligoje |
| TNNT1troponin T1, slow skeletal type | Kartais (5–29%) | 1 ligoje |
| TPM2tropomyosin 2 | Kartais (5–29%) | 2 ligose |
| TPM3tropomyosin 3 | Kartais (5–29%) | 3 ligose |
| TRAPPC11trafficking protein particle complex subunit 11 | Kartais (5–29%) | 1 ligoje |
| TTNtitin | Kartais (5–29%) | 1 ligoje |
| TWNKtwinkle mtDNA helicase | Kartais (5–29%) | 2 ligose |
| USP9Xubiquitin specific peptidase 9 X-linked | Kartais (5–29%) | 2 ligose |
| VAMP1vesicle associated membrane protein 1 | Kartais (5–29%) | 2 ligose |
| WDR11WD repeat domain 11 | Kartais (5–29%) | 1 ligoje |
| WDR26WD repeat domain 26 | Kartais (5–29%) | 2 ligose |
| ZFYVE26zinc finger FYVE-type containing 26 | Kartais (5–29%) | 2 ligose |
| CTCFCCCTC-binding factor | Retai (1–4 %) | 1 ligoje |
| DNM1Ldynamin 1L | Retai (1–4 %) | 1 ligoje |
| HEXBhexosaminidase subunit beta | Retai (1–4 %) | 1 ligoje |
| PPIBpeptidylprolyl isomerase B | Retai (1–4 %) | 1 ligoje |
| AARS1alanyl-tRNA synthetase 1 | Neužfiksuota | 1 ligoje |
| ABHD12abhydrolase domain containing 12, lysophospholipase | Neužfiksuota | 1 ligoje |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Neužfiksuota | 1 ligoje |
| ATL1atlastin GTPase 1 | Neužfiksuota | 2 ligose |
| ATP1A1ATPase Na+/K+ transporting subunit alpha 1 | Neužfiksuota | 1 ligoje |
| ATP7AATPase copper transporting alpha | Neužfiksuota | 1 ligoje |
| B3GLCTbeta 3-glucosyltransferase | Neužfiksuota | 1 ligoje |
| C19orf12chromosome 19 open reading frame 12 | Neužfiksuota | 2 ligose |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Neužfiksuota | 1 ligoje |
| CHMP1Acharged multivesicular body protein 1A | Neužfiksuota | 1 ligoje |
| COA7cytochrome c oxidase assembly factor 7 | Neužfiksuota | 1 ligoje |
| COQ8Acoenzyme Q8A | Neužfiksuota | 1 ligoje |
| COX6A1cytochrome c oxidase subunit 6A1 | Neužfiksuota | 1 ligoje |
| CTDP1CTD phosphatase 1 | Neužfiksuota | 1 ligoje |
| DCAF8DDB1 and CUL4 associated factor 8 | Neužfiksuota | 1 ligoje |
| DNM2dynamin 2 | Neužfiksuota | 1 ligoje |
| EGR2early growth response 2 | Neužfiksuota | 1 ligoje |
| ERLIN2ER lipid raft associated 2 | Neužfiksuota | 1 ligoje |
| FBLN5fibulin 5 | Neužfiksuota | 1 ligoje |
| FDX2ferredoxin 2 | Neužfiksuota | 1 ligoje |
| FGD4FYVE, RhoGEF and PH domain containing 4 | Neužfiksuota | 1 ligoje |
| GJB2gap junction protein beta 2 | Neužfiksuota | 2 ligose |
| GNB4G protein subunit beta 4 | Neužfiksuota | 1 ligoje |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Neužfiksuota | 1 ligoje |
| IDSiduronate 2-sulfatase | Neužfiksuota | 1 ligoje |
| IDUAalpha-L-iduronidase | Neužfiksuota | 1 ligoje |
| IFIH1interferon induced with helicase C domain 1 | Neužfiksuota | 1 ligoje |
| INF2inverted formin 2 | Neužfiksuota | 1 ligoje |
| KARS1lysyl-tRNA synthetase 1 | Neužfiksuota | 1 ligoje |
| KIF1Bkinesin family member 1B | Neužfiksuota | 1 ligoje |
| L1CAML1 cell adhesion molecule | Neužfiksuota | 1 ligoje |
| LRSAM1leucine rich repeat and sterile alpha motif containing 1 | Neužfiksuota | 1 ligoje |
| MECP2methyl-CpG binding protein 2 | Neužfiksuota | 1 ligoje |
| MMP2matrix metallopeptidase 2 | Neužfiksuota | 1 ligoje |
| MPV17mitochondrial inner membrane protein MPV17 | Neužfiksuota | 1 ligoje |
| MYH7myosin heavy chain 7 | Neužfiksuota | 1 ligoje |
| NEFHneurofilament heavy chain | Neužfiksuota | 1 ligoje |
| PCGF2polycomb group ring finger 2 | Neužfiksuota | 1 ligoje |
| PCNAproliferating cell nuclear antigen | Neužfiksuota | 1 ligoje |
| PLIN4perilipin 4 | Neužfiksuota | 1 ligoje |
| PLP1proteolipid protein 1 | Neužfiksuota | 1 ligoje |
| PQBP1polyglutamine binding protein 1 | Neužfiksuota | 1 ligoje |
| PRXperiaxin | Neužfiksuota | 2 ligose |
| RETret proto-oncogene | Neužfiksuota | 1 ligoje |
| SIGMAR1sigma receptor chaperone 1 | Neužfiksuota | 1 ligoje |
| SLC5A7solute carrier family 5 member 7 | Neužfiksuota | 1 ligoje |
| SLC6A8solute carrier family 6 member 8 | Neužfiksuota | 1 ligoje |
| SORDsorbitol dehydrogenase | Neužfiksuota | 1 ligoje |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Neužfiksuota | 1 ligoje |
| VPS13Avacuolar protein sorting 13 homolog A | Neužfiksuota | 1 ligoje |
| WARS1tryptophanyl-tRNA synthetase 1 | Neužfiksuota | 1 ligoje |
| WDR73WD repeat domain 73 | Neužfiksuota | 1 ligoje |
| ZBTB20zinc finger and BTB domain containing 20 | Neužfiksuota | 1 ligoje |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
Platesni požymiai
Iš kur tai žinoma
- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
- Duomenų leidimas 2026.10.16-c6eea6bf.
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