Kenmerk
High-arched foot
Klinische naam: 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).
Samenvatting
- Ook bekend als
- Cavus foot
- Lichaamssysteem
- Abnormality of limbs
ReferentiegenoomGRCh38hg38
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Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij High-arched foot voorkomt. De meeste mensen met dit kenmerk hebben geen van die aandoeningen, en een gen op deze lijst zegt niets over het eigen genoom van iemand.
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| ADCY6adenylate cyclase 6 | Altijd | In 1 aandoening |
| BAG3BAG cochaperone 3 | Altijd | In 2 aandoeningen |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Altijd | In 3 aandoeningen |
| CHP1calcineurin like EF-hand protein 1 | Altijd | In 1 aandoening |
| COL6A1collagen type VI alpha 1 chain | Altijd | In 1 aandoening |
| COQ7coenzyme Q7, hydroxylase | Altijd | In 1 aandoening |
| COX18cytochrome c oxidase assembly factor COX18 | Altijd | In 1 aandoening |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Altijd | In 1 aandoening |
| DHTKD1dehydrogenase E1 and transketolase domain containing 1 | Altijd | In 1 aandoening |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Altijd | In 1 aandoening |
| FEM1Bfem-1 homolog B | Altijd | In 1 aandoening |
| GJC2gap junction protein gamma 2 | Altijd | In 2 aandoeningen |
| GTF3C3general transcription factor IIIC subunit 3 | Altijd | In 1 aandoening |
| GTPBP1GTP binding protein 1 | Altijd | In 1 aandoening |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Altijd | In 1 aandoening |
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Altijd | In 2 aandoeningen |
| JKAMPJNK1/MAPK8 associated membrane protein | Altijd | In 1 aandoening |
| KYkyphoscoliosis peptidase | Altijd | In 1 aandoening |
| LBRlamin B receptor | Altijd | In 1 aandoening |
| LIPElipase E, hormone sensitive type | Altijd | In 1 aandoening |
| MAD1L1mitotic arrest deficient 1 like 1 | Altijd | In 1 aandoening |
| MPZmyelin protein zero | Altijd | In 6 aandoeningen |
| MYMXmyomixer, myoblast fusion factor | Altijd | In 1 aandoening |
| NDC1NDC1 transmembrane nucleoporin | Altijd | In 1 aandoening |
| NDRG1N-myc downstream regulated 1 | Altijd | In 2 aandoeningen |
| NEFLneurofilament light chain | Altijd | In 5 aandoeningen |
| PDXKpyridoxal kinase | Altijd | In 1 aandoening |
| PLEKHG5pleckstrin homology and RhoGEF domain containing G5 | Altijd | In 1 aandoening |
| PMP2peripheral myelin protein 2 | Altijd | In 1 aandoening |
| PNPLA6patatin like domain 6, lysophospholipase | Altijd | In 1 aandoening |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Altijd | In 1 aandoening |
| RAB7ARAB7A, member RAS oncogene family | Altijd | In 1 aandoening |
| REEP1receptor accessory protein 1 | Altijd | In 4 aandoeningen |
| RFC4replication factor C subunit 4 | Altijd | In 1 aandoening |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Altijd | In 1 aandoening |
| SCO2synthesis of cytochrome C oxidase 2 | Altijd | In 1 aandoening |
| SGSM3small G protein signaling modulator 3 | Altijd | In 1 aandoening |
| SPARTspartin | Altijd | In 2 aandoeningen |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Altijd | In 2 aandoeningen |
| TDP1tyrosyl-DNA phosphodiesterase 1 | Altijd | In 2 aandoeningen |
Toon nog 275 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| TRIM2tripartite motif containing 2 | Altijd | In 1 aandoening |
| UCHL1ubiquitin C-terminal hydrolase L1 | Altijd | In 1 aandoening |
| XPAXPA, DNA damage recognition and repair factor | Altijd | In 1 aandoening |
| XRCC4X-ray repair cross complementing 4 | Altijd | In 1 aandoening |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Heel vaak (80–99%) | In 1 aandoening |
| CUL4Bcullin 4B | Heel vaak (80–99%) | In 2 aandoeningen |
| DYNC1H1dynein cytoplasmic 1 heavy chain 1 | Heel vaak (80–99%) | In 1 aandoening |
| GBA2glucosylceramidase beta 2 | Heel vaak (80–99%) | In 3 aandoeningen |
| GDAP1ganglioside induced differentiation associated protein 1 | Heel vaak (80–99%) | In 4 aandoeningen |
| GJB1gap junction protein beta 1 | Heel vaak (80–99%) | In 3 aandoeningen |
| HDAC8histone deacetylase 8 | Heel vaak (80–99%) | In 1 aandoening |
| HK1hexokinase 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| HSPB1heat shock protein family B (small) member 1 | Heel vaak (80–99%) | In 1 aandoening |
| LAS1LLAS1 like ribosome biogenesis factor | Heel vaak (80–99%) | In 2 aandoeningen |
| PDK3pyruvate dehydrogenase kinase 3 | Heel vaak (80–99%) | In 2 aandoeningen |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| VCPvalosin containing protein | Heel vaak (80–99%) | In 2 aandoeningen |
| AHDC1AT-hook DNA binding motif containing 1 | Vaak (30–79%) | In 1 aandoening |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Vaak (30–79%) | In 3 aandoeningen |
| ANO10anoctamin 10 | Vaak (30–79%) | In 2 aandoeningen |
| APTXaprataxin | Vaak (30–79%) | In 1 aandoening |
| ARHGAP19Rho GTPase activating protein 19 | Vaak (30–79%) | In 1 aandoening |
| ATP13A2ATPase cation transporting 13A2 | Vaak (30–79%) | In 2 aandoeningen |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Vaak (30–79%) | In 2 aandoeningen |
| B4GALNT1beta-1,4-N-acetyl-galactosaminyltransferase 1 | Vaak (30–79%) | In 2 aandoeningen |
| CAPN1calpain 1 | Vaak (30–79%) | In 2 aandoeningen |
| CAV3caveolin 3 | Vaak (30–79%) | In 2 aandoeningen |
| CBScystathionine beta-synthase | Vaak (30–79%) | In 1 aandoening |
| COASYCoenzyme A synthase | Vaak (30–79%) | In 1 aandoening |
| COL13A1collagen type XIII alpha 1 chain | Vaak (30–79%) | In 1 aandoening |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Vaak (30–79%) | In 1 aandoening |
| CYP7B1cytochrome P450 family 7 subfamily B member 1 | Vaak (30–79%) | In 2 aandoeningen |
| DDHD1DDHD domain containing 1 | Vaak (30–79%) | In 2 aandoeningen |
| DMXL2Dmx like 2 | Vaak (30–79%) | In 1 aandoening |
| DNAJB2DnaJ heat shock protein family (Hsp40) member B2 | Vaak (30–79%) | In 1 aandoening |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Vaak (30–79%) | In 1 aandoening |
| EMILIN1elastin microfibril interfacer 1 | Vaak (30–79%) | In 1 aandoening |
| FBN1fibrillin 1 | Vaak (30–79%) | In 1 aandoening |
| FGF14fibroblast growth factor 14 | Vaak (30–79%) | In 2 aandoeningen |
| FHL1four and a half LIM domains 1 | Vaak (30–79%) | In 1 aandoening |
| FITM2fat storage inducing transmembrane protein 2 | Vaak (30–79%) | In 1 aandoening |
| FLRT1fibronectin leucine rich transmembrane protein 1 | Vaak (30–79%) | In 1 aandoening |
| FXNfrataxin | Vaak (30–79%) | In 3 aandoeningen |
| GANgigaxonin | Vaak (30–79%) | In 2 aandoeningen |
| GBF1golgi brefeldin A resistant guanine nucleotide exchange factor 1 | Vaak (30–79%) | In 1 aandoening |
| GCH1GTP cyclohydrolase 1 | Vaak (30–79%) | In 2 aandoeningen |
| GLB1galactosidase beta 1 | Vaak (30–79%) | In 1 aandoening |
| GNSglucosamine (N-acetyl)-6-sulfatase | Vaak (30–79%) | In 1 aandoening |
| HARS1histidyl-tRNA synthetase 1 | Vaak (30–79%) | In 2 aandoeningen |
| HSPB8heat shock protein family B (small) member 8 | Vaak (30–79%) | In 2 aandoeningen |
| IBA57iron-sulfur cluster assembly factor IBA57 | Vaak (30–79%) | In 1 aandoening |
| IFRD1interferon related developmental regulator 1 | Vaak (30–79%) | In 1 aandoening |
| IMPDH2inosine monophosphate dehydrogenase 2 | Vaak (30–79%) | In 1 aandoening |
| IQSEC2IQ motif and Sec7 domain ArfGEF 2 | Vaak (30–79%) | In 1 aandoening |
| JAG1jagged canonical Notch ligand 1 | Vaak (30–79%) | In 1 aandoening |
| KIF5Akinesin family member 5A | Vaak (30–79%) | In 2 aandoeningen |
| KLC2kinesin light chain 2 | Vaak (30–79%) | In 2 aandoeningen |
| KNSTRNkinetochore localized astrin (SPAG5) binding protein | Vaak (30–79%) | In 1 aandoening |
| LAMP2lysosome associated membrane protein 2 | Vaak (30–79%) | In 1 aandoening |
| LITAFlipopolysaccharide induced TNF factor | Vaak (30–79%) | In 1 aandoening |
| LMNAlamin A/C | Vaak (30–79%) | In 3 aandoeningen |
| MCM3APminichromosome maintenance complex component 3 associated protein | Vaak (30–79%) | In 1 aandoening |
| MFN2mitofusin 2 | Vaak (30–79%) | In 4 aandoeningen |
| MMEmembrane metalloendopeptidase | Vaak (30–79%) | In 2 aandoeningen |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Vaak (30–79%) | In 2 aandoeningen |
| MTRFRmitochondrial translation release factor in rescue | Vaak (30–79%) | In 1 aandoening |
| NIPA1NIPA magnesium transporter 1 | Vaak (30–79%) | In 2 aandoeningen |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Vaak (30–79%) | In 1 aandoening |
| NRCAMneuronal cell adhesion molecule | Vaak (30–79%) | In 1 aandoening |
| NSUN2NOP2/Sun RNA methyltransferase 2 | Vaak (30–79%) | In 1 aandoening |
| PEX10peroxisomal biogenesis factor 10 | Vaak (30–79%) | In 2 aandoeningen |
| PI4K2Aphosphatidylinositol 4-kinase type 2 alpha | Vaak (30–79%) | In 1 aandoening |
| PI4KAphosphatidylinositol 4-kinase alpha | Vaak (30–79%) | In 1 aandoening |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Vaak (30–79%) | In 1 aandoening |
| PLAAT3phospholipase A and acyltransferase 3 | Vaak (30–79%) | In 1 aandoening |
| PMP22peripheral myelin protein 22 | Vaak (30–79%) | In 8 aandoeningen |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Vaak (30–79%) | In 2 aandoeningen |
| PODXLpodocalyxin like | Vaak (30–79%) | In 1 aandoening |
| POLR1ARNA polymerase I subunit A | Vaak (30–79%) | In 1 aandoening |
| REEP2receptor accessory protein 2 | Vaak (30–79%) | In 2 aandoeningen |
| REPS1RALBP1 associated Eps domain containing 1 | Vaak (30–79%) | In 1 aandoening |
| RTN2reticulon 2 | Vaak (30–79%) | In 3 aandoeningen |
| RUSC2RUN and SH3 domain containing 2 | Vaak (30–79%) | In 1 aandoening |
| SACSsacsin molecular chaperone | Vaak (30–79%) | In 1 aandoening |
| SBF2SET binding factor 2 | Vaak (30–79%) | In 2 aandoeningen |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Vaak (30–79%) | In 1 aandoening |
| SETXsenataxin | Vaak (30–79%) | In 2 aandoeningen |
| SH3TC2SH3 domain and tetratricopeptide repeats 2 | Vaak (30–79%) | In 2 aandoeningen |
| SLC25A1solute carrier family 25 member 1 | Vaak (30–79%) | In 1 aandoening |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Vaak (30–79%) | In 3 aandoeningen |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Vaak (30–79%) | In 2 aandoeningen |
| SYNJ1synaptojanin 1 | Vaak (30–79%) | In 1 aandoening |
| SYT2synaptotagmin 2 | Vaak (30–79%) | In 1 aandoening |
| THtyrosine hydroxylase | Vaak (30–79%) | In 1 aandoening |
| TSPOAP1TSPO associated protein 1 | Vaak (30–79%) | In 1 aandoening |
| TTPAalpha tocopherol transfer protein | Vaak (30–79%) | In 1 aandoening |
| UBAP1ubiquitin associated protein 1 | Vaak (30–79%) | In 2 aandoeningen |
| UBE2Aubiquitin conjugating enzyme E2 A | Vaak (30–79%) | In 1 aandoening |
| VPS13Dvacuolar protein sorting 13 homolog D | Vaak (30–79%) | In 2 aandoeningen |
| VPS41VPS41 subunit of HOPS complex | Vaak (30–79%) | In 1 aandoening |
| VRK1VRK serine/threonine kinase 1 | Vaak (30–79%) | In 1 aandoening |
| VWA1von Willebrand factor A domain containing 1 | Vaak (30–79%) | In 1 aandoening |
| WASHC5WASH complex subunit 5 | Vaak (30–79%) | In 2 aandoeningen |
| WSB2WD repeat and SOCS box containing 2 | Vaak (30–79%) | In 1 aandoening |
| AAASaladin WD repeat nucleoporin | Soms (5–29%) | In 1 aandoening |
| ACTA1actin alpha 1, skeletal muscle | Soms (5–29%) | In 3 aandoeningen |
| ADPRSADP-ribosylserine hydrolase | Soms (5–29%) | In 1 aandoening |
| ANOS1anosmin 1 | Soms (5–29%) | In 2 aandoeningen |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Soms (5–29%) | In 1 aandoening |
| ATG7autophagy related 7 | Soms (5–29%) | In 1 aandoening |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Soms (5–29%) | In 1 aandoening |
| BICD2BICD cargo adaptor 2 | Soms (5–29%) | In 1 aandoening |
| BIN1bridging integrator 1 | Soms (5–29%) | In 2 aandoeningen |
| CARS1cysteinyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| CCDC141coiled-coil domain containing 141 | Soms (5–29%) | In 1 aandoening |
| CHD7chromodomain helicase DNA binding protein 7 | Soms (5–29%) | In 1 aandoening |
| CNTNAP2contactin associated protein 2 | Soms (5–29%) | In 1 aandoening |
| CPT1Ccarnitine palmitoyltransferase 1C | Soms (5–29%) | In 1 aandoening |
| DCCDCC netrin 1 receptor | Soms (5–29%) | In 1 aandoening |
| DDHD2DDHD domain containing 2 | Soms (5–29%) | In 1 aandoening |
| DHHdesert hedgehog signaling molecule | Soms (5–29%) | In 1 aandoening |
| DUSP6dual specificity phosphatase 6 | Soms (5–29%) | In 1 aandoening |
| DYSFdysferlin | Soms (5–29%) | In 1 aandoening |
| EIF2AK2eukaryotic translation initiation factor 2 alpha kinase 2 | Soms (5–29%) | In 1 aandoening |
| EMX2empty spiracles homeobox 2 | Soms (5–29%) | In 1 aandoening |
| ERCC5ERCC excision repair 5, endonuclease | Soms (5–29%) | In 1 aandoening |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Soms (5–29%) | In 2 aandoeningen |
| FBXO38F-box protein 38 | Soms (5–29%) | In 1 aandoening |
| FEZF1FEZ family zinc finger 1 | Soms (5–29%) | In 1 aandoening |
| FGF17fibroblast growth factor 17 | Soms (5–29%) | In 1 aandoening |
| FGF8fibroblast growth factor 8 | Soms (5–29%) | In 1 aandoening |
| FGFR1fibroblast growth factor receptor 1 | Soms (5–29%) | In 1 aandoening |
| FLNAfilamin A | Soms (5–29%) | In 1 aandoening |
| FLRT3fibronectin leucine rich transmembrane protein 3 | Soms (5–29%) | In 1 aandoening |
| GALCgalactosylceramidase | Soms (5–29%) | In 2 aandoeningen |
| GARS1glycyl-tRNA synthetase 1 | Soms (5–29%) | In 3 aandoeningen |
| GBA1glucosylceramidase beta 1 | Soms (5–29%) | In 2 aandoeningen |
| GMPPAGDP-mannose pyrophosphorylase A | Soms (5–29%) | In 1 aandoening |
| GOSR2golgi SNAP receptor complex member 2 | Soms (5–29%) | In 1 aandoening |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Soms (5–29%) | In 2 aandoeningen |
| GTF2E2general transcription factor IIE subunit 2 | Soms (5–29%) | In 1 aandoening |
| GTPBP2GTP binding protein 2 | Soms (5–29%) | In 1 aandoening |
| H3-3BH3.3 histone B | Soms (5–29%) | In 1 aandoening |
| HACD13-hydroxyacyl-CoA dehydratase 1 | Soms (5–29%) | In 1 aandoening |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Soms (5–29%) | In 1 aandoening |
| HADHBhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | Soms (5–29%) | In 1 aandoening |
| HESX1HESX homeobox 1 | Soms (5–29%) | In 1 aandoening |
| HINT1histidine triad nucleotide binding protein 1 | Soms (5–29%) | In 1 aandoening |
| HS6ST1heparan sulfate 6-O-sulfotransferase 1 | Soms (5–29%) | In 1 aandoening |
| HSPD1heat shock protein family D (Hsp60) member 1 | Soms (5–29%) | In 1 aandoening |
| IL17RDinterleukin 17 receptor D | Soms (5–29%) | In 1 aandoening |
| ITGA7integrin subunit alpha 7 | Soms (5–29%) | In 1 aandoening |
| KBTBD13kelch repeat and BTB domain containing 13 | Soms (5–29%) | In 1 aandoening |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Soms (5–29%) | In 1 aandoening |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Soms (5–29%) | In 1 aandoening |
| KLHL41kelch like family member 41 | Soms (5–29%) | In 1 aandoening |
| KPNA3karyopherin subunit alpha 3 | Soms (5–29%) | In 1 aandoening |
| LONP1lon peptidase 1, mitochondrial | Soms (5–29%) | In 1 aandoening |
| MAFBMAF bZIP transcription factor B | Soms (5–29%) | In 1 aandoening |
| MAP1Bmicrotubule associated protein 1B | Soms (5–29%) | In 1 aandoening |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Soms (5–29%) | In 1 aandoening |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Soms (5–29%) | In 1 aandoening |
| MED25mediator complex subunit 25 | Soms (5–29%) | In 1 aandoening |
| MORC2MORC family CW-type zinc finger 2 | Soms (5–29%) | In 2 aandoeningen |
| MRE11MRE11 double strand break repair nuclease | Soms (5–29%) | In 1 aandoening |
| MTTPmicrosomal triglyceride transfer protein | Soms (5–29%) | In 1 aandoening |
| MYL2myosin light chain 2 | Soms (5–29%) | In 1 aandoening |
| MYPNmyopalladin | Soms (5–29%) | In 2 aandoeningen |
| NARS1asparaginyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| NDNFneuron derived neurotrophic factor | Soms (5–29%) | In 1 aandoening |
| NEBnebulin | Soms (5–29%) | In 1 aandoening |
| NF1neurofibromin 1 | Soms (5–29%) | In 1 aandoening |
| NFIXnuclear factor I X | Soms (5–29%) | In 1 aandoening |
| NLRP3NLR family pyrin domain containing 3 | Soms (5–29%) | In 1 aandoening |
| NSD1nuclear receptor binding SET domain protein 1 | Soms (5–29%) | In 1 aandoening |
| OPA1OPA1 mitochondrial dynamin like GTPase | Soms (5–29%) | In 2 aandoeningen |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Soms (5–29%) | In 1 aandoening |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Soms (5–29%) | In 1 aandoening |
| PEX2peroxisomal biogenesis factor 2 | Soms (5–29%) | In 1 aandoening |
| PEX5peroxisomal biogenesis factor 5 | Soms (5–29%) | In 1 aandoening |
| PEX7peroxisomal biogenesis factor 7 | Soms (5–29%) | In 3 aandoeningen |
| PHYHphytanoyl-CoA 2-hydroxylase | Soms (5–29%) | In 2 aandoeningen |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Soms (5–29%) | In 1 aandoening |
| PMPCApeptidase, mitochondrial processing subunit alpha | Soms (5–29%) | In 1 aandoening |
| PNKPpolynucleotide kinase 3'-phosphatase | Soms (5–29%) | In 1 aandoening |
| POLGDNA polymerase gamma, catalytic subunit | Soms (5–29%) | In 2 aandoeningen |
| PROK2prokineticin 2 | Soms (5–29%) | In 1 aandoening |
| PROKR2prokineticin receptor 2 | Soms (5–29%) | In 1 aandoening |
| PYROXD1pyridine nucleotide-disulphide oxidoreductase domain 1 | Soms (5–29%) | In 1 aandoening |
| RAB11BRAB11B, member RAS oncogene family | Soms (5–29%) | In 1 aandoening |
| RSPRY1ring finger and SPRY domain containing 1 | Soms (5–29%) | In 1 aandoening |
| RYR1ryanodine receptor 1 | Soms (5–29%) | In 1 aandoening |
| SAMD9Lsterile alpha motif domain containing 9 like | Soms (5–29%) | In 1 aandoening |
| SELENONselenoprotein N | Soms (5–29%) | In 1 aandoening |
| SEMA3Asemaphorin 3A | Soms (5–29%) | In 1 aandoening |
| SETBP1SET binding protein 1 | Soms (5–29%) | In 1 aandoening |
| SLC25A46solute carrier family 25 member 46 | Soms (5–29%) | In 1 aandoening |
| SLC33A1solute carrier family 33 member 1 | Soms (5–29%) | In 2 aandoeningen |
| SOX10SRY-box transcription factor 10 | Soms (5–29%) | In 2 aandoeningen |
| SPASTspastin | Soms (5–29%) | In 1 aandoening |
| SPEGstriated muscle enriched protein kinase | Soms (5–29%) | In 1 aandoening |
| SPENspen family transcriptional repressor | Soms (5–29%) | In 1 aandoening |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Soms (5–29%) | In 2 aandoeningen |
| SPRY4sprouty RTK signaling antagonist 4 | Soms (5–29%) | In 1 aandoening |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Soms (5–29%) | In 1 aandoening |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Soms (5–29%) | In 2 aandoeningen |
| TACR3tachykinin receptor 3 | Soms (5–29%) | In 1 aandoening |
| TNNT1troponin T1, slow skeletal type | Soms (5–29%) | In 1 aandoening |
| TPM2tropomyosin 2 | Soms (5–29%) | In 2 aandoeningen |
| TPM3tropomyosin 3 | Soms (5–29%) | In 3 aandoeningen |
| TRAPPC11trafficking protein particle complex subunit 11 | Soms (5–29%) | In 1 aandoening |
| TTNtitin | Soms (5–29%) | In 1 aandoening |
| TWNKtwinkle mtDNA helicase | Soms (5–29%) | In 2 aandoeningen |
| USP9Xubiquitin specific peptidase 9 X-linked | Soms (5–29%) | In 2 aandoeningen |
| VAMP1vesicle associated membrane protein 1 | Soms (5–29%) | In 2 aandoeningen |
| WDR11WD repeat domain 11 | Soms (5–29%) | In 1 aandoening |
| WDR26WD repeat domain 26 | Soms (5–29%) | In 2 aandoeningen |
| ZFYVE26zinc finger FYVE-type containing 26 | Soms (5–29%) | In 2 aandoeningen |
| CTCFCCCTC-binding factor | Zelden (1–4%) | In 1 aandoening |
| DNM1Ldynamin 1L | Zelden (1–4%) | In 1 aandoening |
| HEXBhexosaminidase subunit beta | Zelden (1–4%) | In 1 aandoening |
| PPIBpeptidylprolyl isomerase B | Zelden (1–4%) | In 1 aandoening |
| AARS1alanyl-tRNA synthetase 1 | Niet vastgelegd | In 1 aandoening |
| ABHD12abhydrolase domain containing 12, lysophospholipase | Niet vastgelegd | In 1 aandoening |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Niet vastgelegd | In 1 aandoening |
| ATL1atlastin GTPase 1 | Niet vastgelegd | In 2 aandoeningen |
| ATP1A1ATPase Na+/K+ transporting subunit alpha 1 | Niet vastgelegd | In 1 aandoening |
| ATP7AATPase copper transporting alpha | Niet vastgelegd | In 1 aandoening |
| B3GLCTbeta 3-glucosyltransferase | Niet vastgelegd | In 1 aandoening |
| C19orf12chromosome 19 open reading frame 12 | Niet vastgelegd | In 2 aandoeningen |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Niet vastgelegd | In 1 aandoening |
| CHMP1Acharged multivesicular body protein 1A | Niet vastgelegd | In 1 aandoening |
| COA7cytochrome c oxidase assembly factor 7 | Niet vastgelegd | In 1 aandoening |
| COQ8Acoenzyme Q8A | Niet vastgelegd | In 1 aandoening |
| COX6A1cytochrome c oxidase subunit 6A1 | Niet vastgelegd | In 1 aandoening |
| CTDP1CTD phosphatase 1 | Niet vastgelegd | In 1 aandoening |
| DCAF8DDB1 and CUL4 associated factor 8 | Niet vastgelegd | In 1 aandoening |
| DNM2dynamin 2 | Niet vastgelegd | In 1 aandoening |
| EGR2early growth response 2 | Niet vastgelegd | In 1 aandoening |
| ERLIN2ER lipid raft associated 2 | Niet vastgelegd | In 1 aandoening |
| FBLN5fibulin 5 | Niet vastgelegd | In 1 aandoening |
| FDX2ferredoxin 2 | Niet vastgelegd | In 1 aandoening |
| FGD4FYVE, RhoGEF and PH domain containing 4 | Niet vastgelegd | In 1 aandoening |
| GJB2gap junction protein beta 2 | Niet vastgelegd | In 2 aandoeningen |
| GNB4G protein subunit beta 4 | Niet vastgelegd | In 1 aandoening |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Niet vastgelegd | In 1 aandoening |
| IDSiduronate 2-sulfatase | Niet vastgelegd | In 1 aandoening |
| IDUAalpha-L-iduronidase | Niet vastgelegd | In 1 aandoening |
| IFIH1interferon induced with helicase C domain 1 | Niet vastgelegd | In 1 aandoening |
| INF2inverted formin 2 | Niet vastgelegd | In 1 aandoening |
| KARS1lysyl-tRNA synthetase 1 | Niet vastgelegd | In 1 aandoening |
| KIF1Bkinesin family member 1B | Niet vastgelegd | In 1 aandoening |
| L1CAML1 cell adhesion molecule | Niet vastgelegd | In 1 aandoening |
| LRSAM1leucine rich repeat and sterile alpha motif containing 1 | Niet vastgelegd | In 1 aandoening |
| MECP2methyl-CpG binding protein 2 | Niet vastgelegd | In 1 aandoening |
| MMP2matrix metallopeptidase 2 | Niet vastgelegd | In 1 aandoening |
| MPV17mitochondrial inner membrane protein MPV17 | Niet vastgelegd | In 1 aandoening |
| MYH7myosin heavy chain 7 | Niet vastgelegd | In 1 aandoening |
| NEFHneurofilament heavy chain | Niet vastgelegd | In 1 aandoening |
| PCGF2polycomb group ring finger 2 | Niet vastgelegd | In 1 aandoening |
| PCNAproliferating cell nuclear antigen | Niet vastgelegd | In 1 aandoening |
| PLIN4perilipin 4 | Niet vastgelegd | In 1 aandoening |
| PLP1proteolipid protein 1 | Niet vastgelegd | In 1 aandoening |
| PQBP1polyglutamine binding protein 1 | Niet vastgelegd | In 1 aandoening |
| PRXperiaxin | Niet vastgelegd | In 2 aandoeningen |
| RETret proto-oncogene | Niet vastgelegd | In 1 aandoening |
| SIGMAR1sigma receptor chaperone 1 | Niet vastgelegd | In 1 aandoening |
| SLC5A7solute carrier family 5 member 7 | Niet vastgelegd | In 1 aandoening |
| SLC6A8solute carrier family 6 member 8 | Niet vastgelegd | In 1 aandoening |
| SORDsorbitol dehydrogenase | Niet vastgelegd | In 1 aandoening |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Niet vastgelegd | In 1 aandoening |
| VPS13Avacuolar protein sorting 13 homolog A | Niet vastgelegd | In 1 aandoening |
| WARS1tryptophanyl-tRNA synthetase 1 | Niet vastgelegd | In 1 aandoening |
| WDR73WD repeat domain 73 | Niet vastgelegd | In 1 aandoening |
| ZBTB20zinc finger and BTB domain containing 20 | Niet vastgelegd | In 1 aandoening |
Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.
Bredere kenmerken
Waar dit vandaan komt
- De Human Phenotype Ontology, release 2026-09-01: het kenmerk, de namen, de definitie en de genen die ermee verbonden zijn. Meer informatie vindt u op hpo.jax.org.
- Gegevensrelease 2026.10.16-c6eea6bf.
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