Egenskap
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).
Sammendrag
- Også kalt
- Cavus foot
- Kroppssystem
- Abnormality of limbs
ReferansegenomGRCh38hg38
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Endringer i disse genene forårsaker sjeldne tilstander der High-arched foot forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| ADCY6adenylate cyclase 6 | Alltid | I 1 tilstand |
| BAG3BAG cochaperone 3 | Alltid | I 2 tilstander |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Alltid | I 3 tilstander |
| CHP1calcineurin like EF-hand protein 1 | Alltid | I 1 tilstand |
| COL6A1collagen type VI alpha 1 chain | Alltid | I 1 tilstand |
| COQ7coenzyme Q7, hydroxylase | Alltid | I 1 tilstand |
| COX18cytochrome c oxidase assembly factor COX18 | Alltid | I 1 tilstand |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Alltid | I 1 tilstand |
| DHTKD1dehydrogenase E1 and transketolase domain containing 1 | Alltid | I 1 tilstand |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Alltid | I 1 tilstand |
| FEM1Bfem-1 homolog B | Alltid | I 1 tilstand |
| GJC2gap junction protein gamma 2 | Alltid | I 2 tilstander |
| GTF3C3general transcription factor IIIC subunit 3 | Alltid | I 1 tilstand |
| GTPBP1GTP binding protein 1 | Alltid | I 1 tilstand |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Alltid | I 1 tilstand |
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Alltid | I 2 tilstander |
| JKAMPJNK1/MAPK8 associated membrane protein | Alltid | I 1 tilstand |
| KYkyphoscoliosis peptidase | Alltid | I 1 tilstand |
| LBRlamin B receptor | Alltid | I 1 tilstand |
| LIPElipase E, hormone sensitive type | Alltid | I 1 tilstand |
| MAD1L1mitotic arrest deficient 1 like 1 | Alltid | I 1 tilstand |
| MPZmyelin protein zero | Alltid | I 6 tilstander |
| MYMXmyomixer, myoblast fusion factor | Alltid | I 1 tilstand |
| NDC1NDC1 transmembrane nucleoporin | Alltid | I 1 tilstand |
| NDRG1N-myc downstream regulated 1 | Alltid | I 2 tilstander |
| NEFLneurofilament light chain | Alltid | I 5 tilstander |
| PDXKpyridoxal kinase | Alltid | I 1 tilstand |
| PLEKHG5pleckstrin homology and RhoGEF domain containing G5 | Alltid | I 1 tilstand |
| PMP2peripheral myelin protein 2 | Alltid | I 1 tilstand |
| PNPLA6patatin like domain 6, lysophospholipase | Alltid | I 1 tilstand |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Alltid | I 1 tilstand |
| RAB7ARAB7A, member RAS oncogene family | Alltid | I 1 tilstand |
| REEP1receptor accessory protein 1 | Alltid | I 4 tilstander |
| RFC4replication factor C subunit 4 | Alltid | I 1 tilstand |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Alltid | I 1 tilstand |
| SCO2synthesis of cytochrome C oxidase 2 | Alltid | I 1 tilstand |
| SGSM3small G protein signaling modulator 3 | Alltid | I 1 tilstand |
| SPARTspartin | Alltid | I 2 tilstander |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Alltid | I 2 tilstander |
| TDP1tyrosyl-DNA phosphodiesterase 1 | Alltid | I 2 tilstander |
Vis 275 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| TRIM2tripartite motif containing 2 | Alltid | I 1 tilstand |
| UCHL1ubiquitin C-terminal hydrolase L1 | Alltid | I 1 tilstand |
| XPAXPA, DNA damage recognition and repair factor | Alltid | I 1 tilstand |
| XRCC4X-ray repair cross complementing 4 | Alltid | I 1 tilstand |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Svært ofte (80–99 %) | I 1 tilstand |
| CUL4Bcullin 4B | Svært ofte (80–99 %) | I 2 tilstander |
| DYNC1H1dynein cytoplasmic 1 heavy chain 1 | Svært ofte (80–99 %) | I 1 tilstand |
| GBA2glucosylceramidase beta 2 | Svært ofte (80–99 %) | I 3 tilstander |
| GDAP1ganglioside induced differentiation associated protein 1 | Svært ofte (80–99 %) | I 4 tilstander |
| GJB1gap junction protein beta 1 | Svært ofte (80–99 %) | I 3 tilstander |
| HDAC8histone deacetylase 8 | Svært ofte (80–99 %) | I 1 tilstand |
| HK1hexokinase 1 | Svært ofte (80–99 %) | I 2 tilstander |
| HSPB1heat shock protein family B (small) member 1 | Svært ofte (80–99 %) | I 1 tilstand |
| LAS1LLAS1 like ribosome biogenesis factor | Svært ofte (80–99 %) | I 2 tilstander |
| PDK3pyruvate dehydrogenase kinase 3 | Svært ofte (80–99 %) | I 2 tilstander |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Svært ofte (80–99 %) | I 2 tilstander |
| VCPvalosin containing protein | Svært ofte (80–99 %) | I 2 tilstander |
| AHDC1AT-hook DNA binding motif containing 1 | Ofte (30–79 %) | I 1 tilstand |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Ofte (30–79 %) | I 3 tilstander |
| ANO10anoctamin 10 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Ofte (30–79 %) | I 2 tilstander |
| B4GALNT1beta-1,4-N-acetyl-galactosaminyltransferase 1 | Ofte (30–79 %) | I 2 tilstander |
| CAPN1calpain 1 | Ofte (30–79 %) | I 2 tilstander |
| CAV3caveolin 3 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| DDHD1DDHD domain containing 1 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| GANgigaxonin | Ofte (30–79 %) | I 2 tilstander |
| GBF1golgi brefeldin A resistant guanine nucleotide exchange factor 1 | Ofte (30–79 %) | I 1 tilstand |
| GCH1GTP cyclohydrolase 1 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| HSPB8heat shock protein family B (small) member 8 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| KLC2kinesin light chain 2 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| MCM3APminichromosome maintenance complex component 3 associated protein | Ofte (30–79 %) | I 1 tilstand |
| MFN2mitofusin 2 | Ofte (30–79 %) | I 4 tilstander |
| MMEmembrane metalloendopeptidase | Ofte (30–79 %) | I 2 tilstander |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Ofte (30–79 %) | I 2 tilstander |
| MTRFRmitochondrial translation release factor in rescue | Ofte (30–79 %) | I 1 tilstand |
| NIPA1NIPA magnesium transporter 1 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| REPS1RALBP1 associated Eps domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| RTN2reticulon 2 | Ofte (30–79 %) | I 3 tilstander |
| 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 tilstander |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Ofte (30–79 %) | I 1 tilstand |
| SETXsenataxin | Ofte (30–79 %) | I 2 tilstander |
| SH3TC2SH3 domain and tetratricopeptide repeats 2 | Ofte (30–79 %) | I 2 tilstander |
| SLC25A1solute carrier family 25 member 1 | Ofte (30–79 %) | I 1 tilstand |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Ofte (30–79 %) | I 3 tilstander |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| UBE2Aubiquitin conjugating enzyme E2 A | Ofte (30–79 %) | I 1 tilstand |
| VPS13Dvacuolar protein sorting 13 homolog D | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| WSB2WD repeat and SOCS box containing 2 | Ofte (30–79 %) | I 1 tilstand |
| AAASaladin WD repeat nucleoporin | Noen ganger (5–29 %) | I 1 tilstand |
| ACTA1actin alpha 1, skeletal muscle | Noen ganger (5–29 %) | I 3 tilstander |
| ADPRSADP-ribosylserine hydrolase | Noen ganger (5–29 %) | I 1 tilstand |
| ANOS1anosmin 1 | Noen ganger (5–29 %) | I 2 tilstander |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Noen ganger (5–29 %) | I 1 tilstand |
| ATG7autophagy related 7 | Noen ganger (5–29 %) | I 1 tilstand |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Noen ganger (5–29 %) | I 1 tilstand |
| BICD2BICD cargo adaptor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| BIN1bridging integrator 1 | Noen ganger (5–29 %) | I 2 tilstander |
| CARS1cysteinyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CCDC141coiled-coil domain containing 141 | Noen ganger (5–29 %) | I 1 tilstand |
| CHD7chromodomain helicase DNA binding protein 7 | Noen ganger (5–29 %) | I 1 tilstand |
| CNTNAP2contactin associated protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CPT1Ccarnitine palmitoyltransferase 1C | Noen ganger (5–29 %) | I 1 tilstand |
| DCCDCC netrin 1 receptor | Noen ganger (5–29 %) | I 1 tilstand |
| DDHD2DDHD domain containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| DHHdesert hedgehog signaling molecule | Noen ganger (5–29 %) | I 1 tilstand |
| DUSP6dual specificity phosphatase 6 | Noen ganger (5–29 %) | I 1 tilstand |
| DYSFdysferlin | Noen ganger (5–29 %) | I 1 tilstand |
| EIF2AK2eukaryotic translation initiation factor 2 alpha kinase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| EMX2empty spiracles homeobox 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ERCC5ERCC excision repair 5, endonuclease | Noen ganger (5–29 %) | I 1 tilstand |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Noen ganger (5–29 %) | I 2 tilstander |
| FBXO38F-box protein 38 | Noen ganger (5–29 %) | I 1 tilstand |
| FEZF1FEZ family zinc finger 1 | Noen ganger (5–29 %) | I 1 tilstand |
| FGF17fibroblast growth factor 17 | Noen ganger (5–29 %) | I 1 tilstand |
| FGF8fibroblast growth factor 8 | Noen ganger (5–29 %) | I 1 tilstand |
| FGFR1fibroblast growth factor receptor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| FLNAfilamin A | Noen ganger (5–29 %) | I 1 tilstand |
| FLRT3fibronectin leucine rich transmembrane protein 3 | Noen ganger (5–29 %) | I 1 tilstand |
| GALCgalactosylceramidase | Noen ganger (5–29 %) | I 2 tilstander |
| GARS1glycyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 3 tilstander |
| GBA1glucosylceramidase beta 1 | Noen ganger (5–29 %) | I 2 tilstander |
| GMPPAGDP-mannose pyrophosphorylase A | Noen ganger (5–29 %) | I 1 tilstand |
| GOSR2golgi SNAP receptor complex member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Noen ganger (5–29 %) | I 2 tilstander |
| GTF2E2general transcription factor IIE subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| GTPBP2GTP binding protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| H3-3BH3.3 histone B | Noen ganger (5–29 %) | I 1 tilstand |
| HACD13-hydroxyacyl-CoA dehydratase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Noen ganger (5–29 %) | I 1 tilstand |
| HADHBhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | Noen ganger (5–29 %) | I 1 tilstand |
| HESX1HESX homeobox 1 | Noen ganger (5–29 %) | I 1 tilstand |
| HINT1histidine triad nucleotide binding protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| HS6ST1heparan sulfate 6-O-sulfotransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| HSPD1heat shock protein family D (Hsp60) member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| IL17RDinterleukin 17 receptor D | Noen ganger (5–29 %) | I 1 tilstand |
| ITGA7integrin subunit alpha 7 | Noen ganger (5–29 %) | I 1 tilstand |
| KBTBD13kelch repeat and BTB domain containing 13 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Noen ganger (5–29 %) | I 1 tilstand |
| KLHL41kelch like family member 41 | Noen ganger (5–29 %) | I 1 tilstand |
| KPNA3karyopherin subunit alpha 3 | Noen ganger (5–29 %) | I 1 tilstand |
| LONP1lon peptidase 1, mitochondrial | Noen ganger (5–29 %) | I 1 tilstand |
| MAFBMAF bZIP transcription factor B | Noen ganger (5–29 %) | I 1 tilstand |
| MAP1Bmicrotubule associated protein 1B | Noen ganger (5–29 %) | I 1 tilstand |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Noen ganger (5–29 %) | I 1 tilstand |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Noen ganger (5–29 %) | I 1 tilstand |
| MED25mediator complex subunit 25 | Noen ganger (5–29 %) | I 1 tilstand |
| MORC2MORC family CW-type zinc finger 2 | Noen ganger (5–29 %) | I 2 tilstander |
| MRE11MRE11 double strand break repair nuclease | Noen ganger (5–29 %) | I 1 tilstand |
| MTTPmicrosomal triglyceride transfer protein | Noen ganger (5–29 %) | I 1 tilstand |
| MYL2myosin light chain 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MYPNmyopalladin | Noen ganger (5–29 %) | I 2 tilstander |
| NARS1asparaginyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NDNFneuron derived neurotrophic factor | Noen ganger (5–29 %) | I 1 tilstand |
| NEBnebulin | Noen ganger (5–29 %) | I 1 tilstand |
| NF1neurofibromin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NFIXnuclear factor I X | Noen ganger (5–29 %) | I 1 tilstand |
| NLRP3NLR family pyrin domain containing 3 | Noen ganger (5–29 %) | I 1 tilstand |
| NSD1nuclear receptor binding SET domain protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| OPA1OPA1 mitochondrial dynamin like GTPase | Noen ganger (5–29 %) | I 2 tilstander |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Noen ganger (5–29 %) | I 1 tilstand |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PEX2peroxisomal biogenesis factor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PEX5peroxisomal biogenesis factor 5 | Noen ganger (5–29 %) | I 1 tilstand |
| PEX7peroxisomal biogenesis factor 7 | Noen ganger (5–29 %) | I 3 tilstander |
| PHYHphytanoyl-CoA 2-hydroxylase | Noen ganger (5–29 %) | I 2 tilstander |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Noen ganger (5–29 %) | I 1 tilstand |
| PMPCApeptidase, mitochondrial processing subunit alpha | Noen ganger (5–29 %) | I 1 tilstand |
| PNKPpolynucleotide kinase 3'-phosphatase | Noen ganger (5–29 %) | I 1 tilstand |
| POLGDNA polymerase gamma, catalytic subunit | Noen ganger (5–29 %) | I 2 tilstander |
| PROK2prokineticin 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PROKR2prokineticin receptor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PYROXD1pyridine nucleotide-disulphide oxidoreductase domain 1 | Noen ganger (5–29 %) | I 1 tilstand |
| RAB11BRAB11B, member RAS oncogene family | Noen ganger (5–29 %) | I 1 tilstand |
| RSPRY1ring finger and SPRY domain containing 1 | Noen ganger (5–29 %) | I 1 tilstand |
| RYR1ryanodine receptor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SAMD9Lsterile alpha motif domain containing 9 like | Noen ganger (5–29 %) | I 1 tilstand |
| SELENONselenoprotein N | Noen ganger (5–29 %) | I 1 tilstand |
| SEMA3Asemaphorin 3A | Noen ganger (5–29 %) | I 1 tilstand |
| SETBP1SET binding protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC25A46solute carrier family 25 member 46 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC33A1solute carrier family 33 member 1 | Noen ganger (5–29 %) | I 2 tilstander |
| SOX10SRY-box transcription factor 10 | Noen ganger (5–29 %) | I 2 tilstander |
| SPASTspastin | Noen ganger (5–29 %) | I 1 tilstand |
| SPEGstriated muscle enriched protein kinase | Noen ganger (5–29 %) | I 1 tilstand |
| SPENspen family transcriptional repressor | Noen ganger (5–29 %) | I 1 tilstand |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Noen ganger (5–29 %) | I 2 tilstander |
| SPRY4sprouty RTK signaling antagonist 4 | Noen ganger (5–29 %) | I 1 tilstand |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Noen ganger (5–29 %) | I 1 tilstand |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Noen ganger (5–29 %) | I 2 tilstander |
| TACR3tachykinin receptor 3 | Noen ganger (5–29 %) | I 1 tilstand |
| TNNT1troponin T1, slow skeletal type | Noen ganger (5–29 %) | I 1 tilstand |
| TPM2tropomyosin 2 | Noen ganger (5–29 %) | I 2 tilstander |
| TPM3tropomyosin 3 | Noen ganger (5–29 %) | I 3 tilstander |
| TRAPPC11trafficking protein particle complex subunit 11 | Noen ganger (5–29 %) | I 1 tilstand |
| TTNtitin | Noen ganger (5–29 %) | I 1 tilstand |
| TWNKtwinkle mtDNA helicase | Noen ganger (5–29 %) | I 2 tilstander |
| USP9Xubiquitin specific peptidase 9 X-linked | Noen ganger (5–29 %) | I 2 tilstander |
| VAMP1vesicle associated membrane protein 1 | Noen ganger (5–29 %) | I 2 tilstander |
| WDR11WD repeat domain 11 | Noen ganger (5–29 %) | I 1 tilstand |
| WDR26WD repeat domain 26 | Noen ganger (5–29 %) | I 2 tilstander |
| ZFYVE26zinc finger FYVE-type containing 26 | Noen ganger (5–29 %) | I 2 tilstander |
| CTCFCCCTC-binding factor | Sjelden (1–4%) | I 1 tilstand |
| DNM1Ldynamin 1L | Sjelden (1–4%) | I 1 tilstand |
| HEXBhexosaminidase subunit beta | Sjelden (1–4%) | I 1 tilstand |
| PPIBpeptidylprolyl isomerase B | Sjelden (1–4%) | I 1 tilstand |
| AARS1alanyl-tRNA synthetase 1 | Ikke registrert | I 1 tilstand |
| ABHD12abhydrolase domain containing 12, lysophospholipase | Ikke registrert | I 1 tilstand |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Ikke registrert | I 1 tilstand |
| ATL1atlastin GTPase 1 | Ikke registrert | I 2 tilstander |
| ATP1A1ATPase Na+/K+ transporting subunit alpha 1 | Ikke registrert | I 1 tilstand |
| ATP7AATPase copper transporting alpha | Ikke registrert | I 1 tilstand |
| B3GLCTbeta 3-glucosyltransferase | Ikke registrert | I 1 tilstand |
| C19orf12chromosome 19 open reading frame 12 | Ikke registrert | I 2 tilstander |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Ikke registrert | I 1 tilstand |
| CHMP1Acharged multivesicular body protein 1A | Ikke registrert | I 1 tilstand |
| COA7cytochrome c oxidase assembly factor 7 | Ikke registrert | I 1 tilstand |
| COQ8Acoenzyme Q8A | Ikke registrert | I 1 tilstand |
| COX6A1cytochrome c oxidase subunit 6A1 | Ikke registrert | I 1 tilstand |
| CTDP1CTD phosphatase 1 | Ikke registrert | I 1 tilstand |
| DCAF8DDB1 and CUL4 associated factor 8 | Ikke registrert | I 1 tilstand |
| DNM2dynamin 2 | Ikke registrert | I 1 tilstand |
| EGR2early growth response 2 | Ikke registrert | I 1 tilstand |
| ERLIN2ER lipid raft associated 2 | Ikke registrert | I 1 tilstand |
| FBLN5fibulin 5 | Ikke registrert | I 1 tilstand |
| FDX2ferredoxin 2 | Ikke registrert | I 1 tilstand |
| FGD4FYVE, RhoGEF and PH domain containing 4 | Ikke registrert | I 1 tilstand |
| GJB2gap junction protein beta 2 | Ikke registrert | I 2 tilstander |
| GNB4G protein subunit beta 4 | Ikke registrert | I 1 tilstand |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Ikke registrert | I 1 tilstand |
| IDSiduronate 2-sulfatase | Ikke registrert | I 1 tilstand |
| IDUAalpha-L-iduronidase | Ikke registrert | I 1 tilstand |
| IFIH1interferon induced with helicase C domain 1 | Ikke registrert | I 1 tilstand |
| INF2inverted formin 2 | Ikke registrert | I 1 tilstand |
| KARS1lysyl-tRNA synthetase 1 | Ikke registrert | I 1 tilstand |
| KIF1Bkinesin family member 1B | Ikke registrert | I 1 tilstand |
| L1CAML1 cell adhesion molecule | Ikke registrert | I 1 tilstand |
| LRSAM1leucine rich repeat and sterile alpha motif containing 1 | Ikke registrert | I 1 tilstand |
| MECP2methyl-CpG binding protein 2 | Ikke registrert | I 1 tilstand |
| MMP2matrix metallopeptidase 2 | Ikke registrert | I 1 tilstand |
| MPV17mitochondrial inner membrane protein MPV17 | Ikke registrert | I 1 tilstand |
| MYH7myosin heavy chain 7 | Ikke registrert | I 1 tilstand |
| NEFHneurofilament heavy chain | Ikke registrert | I 1 tilstand |
| PCGF2polycomb group ring finger 2 | Ikke registrert | I 1 tilstand |
| PCNAproliferating cell nuclear antigen | Ikke registrert | I 1 tilstand |
| PLIN4perilipin 4 | Ikke registrert | I 1 tilstand |
| PLP1proteolipid protein 1 | Ikke registrert | I 1 tilstand |
| PQBP1polyglutamine binding protein 1 | Ikke registrert | I 1 tilstand |
| PRXperiaxin | Ikke registrert | I 2 tilstander |
| RETret proto-oncogene | Ikke registrert | I 1 tilstand |
| SIGMAR1sigma receptor chaperone 1 | Ikke registrert | I 1 tilstand |
| SLC5A7solute carrier family 5 member 7 | Ikke registrert | I 1 tilstand |
| SLC6A8solute carrier family 6 member 8 | Ikke registrert | I 1 tilstand |
| SORDsorbitol dehydrogenase | Ikke registrert | I 1 tilstand |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Ikke registrert | I 1 tilstand |
| VPS13Avacuolar protein sorting 13 homolog A | Ikke registrert | I 1 tilstand |
| WARS1tryptophanyl-tRNA synthetase 1 | Ikke registrert | I 1 tilstand |
| WDR73WD repeat domain 73 | Ikke registrert | I 1 tilstand |
| ZBTB20zinc finger and BTB domain containing 20 | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
Bredere egenskaper
Slik er informasjonen samlet
- Human Phenotype Ontology, versjon 2026-09-01: egenskapen, navnene på den, definisjonen og genene som er knyttet til den. Les mer på hpo.jax.org.
- Datautgave 2026.10.16-c6eea6bf.
Én test. En livstid med svar.
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