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Egenskap
Poor swallowing
Klinisk navn: Dysphagia
Difficulty in swallowing.
Sammendrag
- Også kalt
- Swallowing difficulties, Swallowing difficulty, Difficulty swallowing
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Denne siden som data
Legg til .json etter adressen til siden, eller be om application/json, for å lese den som JSON.
library(jsonlite)
url <- "https://dantelabs.com/traits/dysphagia.json"
page <- fromJSON(url)
page$trait$namePoor swallowingHP:0002015
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Les genene knyttet til Poor swallowing, og resten av genomet ditt, med én test.
Fra 449 $Gratis frakt · Resultater på 6–8 uker
Få mitt Genome Test569 gener knyttet til Poor swallowing
Endringer i disse genene forårsaker sjeldne tilstander der Poor swallowing 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 |
|---|---|---|
| ACTBactin beta | Alltid | I 2 tilstander |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Alltid | I 2 tilstander |
| AHDC1AT-hook DNA binding motif containing 1 | Alltid | I 1 tilstand |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Alltid | I 5 tilstander |
| AMOTL1angiomotin like 1 | Alltid | I 1 tilstand |
| APTXaprataxin | Alltid | I 1 tilstand |
| ASCC1activating signal cointegrator 1 complex subunit 1 | Alltid | I 1 tilstand |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Alltid | I 1 tilstand |
| CCT3chaperonin containing TCP1 subunit 3 | Alltid | I 1 tilstand |
| CHRNDcholinergic receptor nicotinic delta subunit | Alltid | I 2 tilstander |
| CILK1ciliogenesis associated kinase 1 | Alltid | I 1 tilstand |
| COQ2coenzyme Q2, polyprenyltransferase | Alltid | I 1 tilstand |
| COX18cytochrome c oxidase assembly factor COX18 | Alltid | I 1 tilstand |
| CSF1Rcolony stimulating factor 1 receptor | Alltid | I 1 tilstand |
| CTSAcathepsin A | Alltid | I 1 tilstand |
| DONSONDNA replication fork stabilization factor DONSON | Alltid | I 1 tilstand |
| DSTdystonin | Alltid | I 1 tilstand |
| EBF3EBF transcription factor 3 | Alltid | I 1 tilstand |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Alltid | I 1 tilstand |
| EIF4A2eukaryotic translation initiation factor 4A2 | Alltid | I 1 tilstand |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Alltid | I 1 tilstand |
| EXOSC5exosome component 5 | Alltid | I 1 tilstand |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Alltid | I 1 tilstand |
| FDXRferredoxin reductase | Alltid | I 1 tilstand |
| GLB1galactosidase beta 1 | Alltid | I 1 tilstand |
| GTPBP1GTP binding protein 1 | Alltid | I 1 tilstand |
| GUK1guanylate kinase 1 | Alltid | I 1 tilstand |
| HIVEP2HIVEP zinc finger 2 | Alltid | I 1 tilstand |
| HNRNPA2B1heterogeneous nuclear ribonucleoprotein A2/B1 | Alltid | I 1 tilstand |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Alltid | I 1 tilstand |
| JPH1junctophilin 1 | Alltid | I 1 tilstand |
| KCNK3potassium two pore domain channel subfamily K member 3 | Alltid | I 1 tilstand |
| KDM6Blysine demethylase 6B | Alltid | I 1 tilstand |
| KIF5Akinesin family member 5A | Alltid | I 1 tilstand |
| KLHL7kelch like family member 7 | Alltid | I 1 tilstand |
| MAPTmicrotubule associated protein tau | Alltid | I 4 tilstander |
| MCCC1methylcrotonyl-CoA carboxylase subunit 1 | Alltid | I 1 tilstand |
| MED16mediator complex subunit 16 | Alltid | I 1 tilstand |
| MED17mediator complex subunit 17 | Alltid | I 1 tilstand |
| MEGF10multiple EGF like domains 10 | Alltid | I 2 tilstander |
Vis 529 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| MFFmitochondrial fission factor | Alltid | I 2 tilstander |
| MINPP1multiple inositol-polyphosphate phosphatase 1 | Alltid | I 1 tilstand |
| MRPS25mitochondrial ribosomal protein S25 | Alltid | I 1 tilstand |
| MRPS28mitochondrial ribosomal protein S28 | Alltid | I 1 tilstand |
| MSL2MSL complex subunit 2 | Alltid | I 1 tilstand |
| MYH2myosin heavy chain 2 | Alltid | I 1 tilstand |
| MYMKmyomaker, myoblast fusion factor | Alltid | I 1 tilstand |
| MYO1Hmyosin IH | Alltid | I 1 tilstand |
| NDC1NDC1 transmembrane nucleoporin | Alltid | I 1 tilstand |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Alltid | I 1 tilstand |
| NOTCH3notch receptor 3 | Alltid | I 2 tilstander |
| NUP54nucleoporin 54 | Alltid | I 2 tilstander |
| PI4KAphosphatidylinositol 4-kinase alpha | Alltid | I 2 tilstander |
| POLGDNA polymerase gamma, catalytic subunit | Alltid | I 8 tilstander |
| POLR1ARNA polymerase I subunit A | Alltid | I 1 tilstand |
| RAB32RAB32, member RAS oncogene family | Alltid | I 1 tilstand |
| RFC4replication factor C subunit 4 | Alltid | I 1 tilstand |
| RNASEH1ribonuclease H1 | Alltid | I 2 tilstander |
| RNU2-2RNA, U2 small nuclear 2 | Alltid | I 1 tilstand |
| SETXsenataxin | Alltid | I 2 tilstander |
| SLC19A3solute carrier family 19 member 3 | Alltid | I 1 tilstand |
| SNF8SNF8 subunit of ESCRT-II | Alltid | I 1 tilstand |
| SPARTspartin | Alltid | I 2 tilstander |
| SPTBN4spectrin beta, non-erythrocytic 4 | Alltid | I 1 tilstand |
| SYNJ1synaptojanin 1 | Alltid | I 1 tilstand |
| TK2thymidine kinase 2 | Alltid | I 2 tilstander |
| TMEM63Btransmembrane protein 63B | Alltid | I 1 tilstand |
| TOP3ADNA topoisomerase III alpha | Alltid | I 2 tilstander |
| TOR1Atorsin family 1 member A | Alltid | I 1 tilstand |
| TRAPPC12trafficking protein particle complex subunit 12 | Alltid | I 2 tilstander |
| TRIP4thyroid hormone receptor interactor 4 | Alltid | I 1 tilstand |
| TSEN54tRNA splicing endonuclease subunit 54 | Alltid | I 2 tilstander |
| UNC13Aunc-13 homolog A | Alltid | I 2 tilstander |
| VPS11VPS11 core subunit of CORVET and HOPS complexes | Alltid | I 1 tilstand |
| VPS13Avacuolar protein sorting 13 homolog A | Alltid | I 2 tilstander |
| VRK1VRK serine/threonine kinase 1 | Alltid | I 1 tilstand |
| XRCC1X-ray repair cross complementing 1 | Alltid | I 1 tilstand |
| ACTA1actin alpha 1, skeletal muscle | Svært ofte (80–99 %) | I 6 tilstander |
| AMPD2adenosine monophosphate deaminase 2 | Svært ofte (80–99 %) | I 1 tilstand |
| APPamyloid beta precursor protein | Svært ofte (80–99 %) | I 1 tilstand |
| ATXN7ataxin 7 | Svært ofte (80–99 %) | I 2 tilstander |
| COL4A5collagen type IV alpha 5 chain | Svært ofte (80–99 %) | I 1 tilstand |
| COL4A6collagen type IV alpha 6 chain | Svært ofte (80–99 %) | I 1 tilstand |
| COQ4coenzyme Q4 | Svært ofte (80–99 %) | I 1 tilstand |
| CRLF1cytokine receptor like factor 1 | Svært ofte (80–99 %) | I 1 tilstand |
| CRYABcrystallin alpha B | Svært ofte (80–99 %) | I 1 tilstand |
| FTH1ferritin heavy chain 1 | Svært ofte (80–99 %) | I 1 tilstand |
| GBA1glucosylceramidase beta 1 | Svært ofte (80–99 %) | I 5 tilstander |
| GTPBP2GTP binding protein 2 | Svært ofte (80–99 %) | I 1 tilstand |
| HLA-DQA1major histocompatibility complex, class II, DQ alpha 1 | Svært ofte (80–99 %) | I 1 tilstand |
| HLA-DQB1major histocompatibility complex, class II, DQ beta 1 | Svært ofte (80–99 %) | I 1 tilstand |
| KLHL40kelch like family member 40 | Svært ofte (80–99 %) | I 2 tilstander |
| LIG3DNA ligase 3 | Svært ofte (80–99 %) | I 2 tilstander |
| LMX1BLIM homeobox transcription factor 1 beta | Svært ofte (80–99 %) | I 1 tilstand |
| MID1midline 1 | Svært ofte (80–99 %) | I 2 tilstander |
| NOS1nitric oxide synthase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| PABPN1poly(A) binding protein nuclear 1 | Svært ofte (80–99 %) | I 2 tilstander |
| PRDX3peroxiredoxin 3 | Svært ofte (80–99 %) | I 1 tilstand |
| QDPRquinoid dihydropteridine reductase | Svært ofte (80–99 %) | I 2 tilstander |
| RILPL1Rab interacting lysosomal protein like 1 | Svært ofte (80–99 %) | I 1 tilstand |
| RRM1ribonucleotide reductase catalytic subunit M1 | Svært ofte (80–99 %) | I 2 tilstander |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Svært ofte (80–99 %) | I 5 tilstander |
| SLC44A1solute carrier family 44 member 1 | Svært ofte (80–99 %) | I 1 tilstand |
| SLC5A7solute carrier family 5 member 7 | Svært ofte (80–99 %) | I 1 tilstand |
| STXBP1syntaxin binding protein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| TTBK2tau tubulin kinase 2 | Svært ofte (80–99 %) | I 1 tilstand |
| TYMPthymidine phosphorylase | Svært ofte (80–99 %) | I 2 tilstander |
| UBTFupstream binding transcription factor | Svært ofte (80–99 %) | I 2 tilstander |
| ABCD3ATP binding cassette subfamily D member 3 | Ofte (30–79 %) | I 1 tilstand |
| ACOX1acyl-CoA oxidase 1 | Ofte (30–79 %) | I 2 tilstander |
| ADARadenosine deaminase RNA specific | Ofte (30–79 %) | I 1 tilstand |
| ADD3adducin 3 | Ofte (30–79 %) | I 1 tilstand |
| ANGangiogenin | Ofte (30–79 %) | I 1 tilstand |
| ANXA11annexin A11 | Ofte (30–79 %) | I 2 tilstander |
| ARXaristaless related homeobox | Ofte (30–79 %) | I 2 tilstander |
| ATN1atrophin 1 | Ofte (30–79 %) | I 1 tilstand |
| ATP13A2ATPase cation transporting 13A2 | Ofte (30–79 %) | I 3 tilstander |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Ofte (30–79 %) | I 1 tilstand |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Ofte (30–79 %) | I 5 tilstander |
| ATP2B3ATPase plasma membrane Ca2+ transporting 3 | Ofte (30–79 %) | I 1 tilstand |
| ATP5F1AATP synthase F1 subunit alpha | Ofte (30–79 %) | I 1 tilstand |
| ATP7AATPase copper transporting alpha | Ofte (30–79 %) | I 1 tilstand |
| ATXN1ataxin 1 | Ofte (30–79 %) | I 2 tilstander |
| ATXN2ataxin 2 | Ofte (30–79 %) | I 3 tilstander |
| BORCS8BLOC-1 related complex subunit 8 | Ofte (30–79 %) | I 1 tilstand |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Ofte (30–79 %) | I 3 tilstander |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Ofte (30–79 %) | I 1 tilstand |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Ofte (30–79 %) | I 2 tilstander |
| CADcarbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase | Ofte (30–79 %) | I 1 tilstand |
| CAPRIN1cell cycle associated protein 1 | Ofte (30–79 %) | I 1 tilstand |
| CARMIL2capping protein regulator and myosin 1 linker 2 | Ofte (30–79 %) | I 1 tilstand |
| CASKcalcium/calmodulin dependent serine protein kinase | Ofte (30–79 %) | I 1 tilstand |
| CASZ1castor zinc finger 1 | Ofte (30–79 %) | I 1 tilstand |
| CAV1caveolin 1 | Ofte (30–79 %) | I 3 tilstander |
| CCN2cellular communication network factor 2 | Ofte (30–79 %) | I 2 tilstander |
| CCNFcyclin F | Ofte (30–79 %) | I 1 tilstand |
| CCR6C-C motif chemokine receptor 6 | Ofte (30–79 %) | I 2 tilstander |
| CDC73cell division cycle 73 | Ofte (30–79 %) | I 2 tilstander |
| CDKL5cyclin dependent kinase like 5 | Ofte (30–79 %) | I 1 tilstand |
| CDONcell adhesion associated, oncogene regulated | Ofte (30–79 %) | I 5 tilstander |
| CEP85Lcentrosomal protein 85L | Ofte (30–79 %) | I 1 tilstand |
| CFAP410cilia and flagella associated protein 410 | Ofte (30–79 %) | I 1 tilstand |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Ofte (30–79 %) | I 4 tilstander |
| CHD7chromodomain helicase DNA binding protein 7 | Ofte (30–79 %) | I 2 tilstander |
| CHMP2Bcharged multivesicular body protein 2B | Ofte (30–79 %) | I 1 tilstand |
| CNBPCCHC-type zinc finger nucleic acid binding protein | Ofte (30–79 %) | I 1 tilstand |
| COL13A1collagen type XIII alpha 1 chain | Ofte (30–79 %) | I 1 tilstand |
| COL7A1collagen type VII alpha 1 chain | Ofte (30–79 %) | I 3 tilstander |
| COLQcollagen like tail subunit of asymmetric acetylcholinesterase | Ofte (30–79 %) | I 2 tilstander |
| CRIPTOcripto, EGF-CFC family member | Ofte (30–79 %) | I 5 tilstander |
| CRNKL1crooked neck pre-mRNA splicing factor 1 | Ofte (30–79 %) | I 1 tilstand |
| DAOD-amino acid oxidase | Ofte (30–79 %) | I 1 tilstand |
| DCTN1dynactin subunit 1 | Ofte (30–79 %) | I 2 tilstander |
| DDHD2DDHD domain containing 2 | Ofte (30–79 %) | I 2 tilstander |
| DGUOKdeoxyguanosine kinase | Ofte (30–79 %) | I 2 tilstander |
| DISP1dispatched RND transporter family member 1 | Ofte (30–79 %) | I 5 tilstander |
| DKK1dickkopf Wnt signaling pathway inhibitor 1 | Ofte (30–79 %) | I 1 tilstand |
| DLL1delta like canonical Notch ligand 1 | Ofte (30–79 %) | I 5 tilstander |
| DMXL2Dmx like 2 | Ofte (30–79 %) | I 1 tilstand |
| DNAJB6DnaJ heat shock protein family (Hsp40) member B6 | Ofte (30–79 %) | I 2 tilstander |
| DNAJC13DnaJ heat shock protein family (Hsp40) member C13 | Ofte (30–79 %) | I 1 tilstand |
| DPYSL5dihydropyrimidinase like 5 | Ofte (30–79 %) | I 1 tilstand |
| DTYMKdeoxythymidylate kinase | Ofte (30–79 %) | I 1 tilstand |
| ECM1extracellular matrix protein 1 | Ofte (30–79 %) | I 1 tilstand |
| EIF4G1eukaryotic translation initiation factor 4 gamma 1 | Ofte (30–79 %) | I 1 tilstand |
| EPRS1glutamyl-prolyl-tRNA synthetase 1 | Ofte (30–79 %) | I 1 tilstand |
| ERBB4erb-b2 receptor tyrosine kinase 4 | Ofte (30–79 %) | I 1 tilstand |
| ERLIN2ER lipid raft associated 2 | Ofte (30–79 %) | I 3 tilstander |
| FBXL4F-box and leucine rich repeat protein 4 | Ofte (30–79 %) | I 1 tilstand |
| FBXO28F-box protein 28 | Ofte (30–79 %) | I 1 tilstand |
| FBXO7F-box protein 7 | Ofte (30–79 %) | I 1 tilstand |
| FERMT1FERM domain containing kindlin 1 | Ofte (30–79 %) | I 2 tilstander |
| FGF8fibroblast growth factor 8 | Ofte (30–79 %) | I 5 tilstander |
| FGFR1fibroblast growth factor receptor 1 | Ofte (30–79 %) | I 2 tilstander |
| FIG4FIG4 phosphoinositide 5-phosphatase | Ofte (30–79 %) | I 1 tilstand |
| FOXH1forkhead box H1 | Ofte (30–79 %) | I 5 tilstander |
| FTLferritin light chain | Ofte (30–79 %) | I 2 tilstander |
| FUSFUS RNA binding protein | Ofte (30–79 %) | I 3 tilstander |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Ofte (30–79 %) | I 1 tilstand |
| GAS1growth arrest specific 1 | Ofte (30–79 %) | I 5 tilstander |
| GBA2glucosylceramidase beta 2 | Ofte (30–79 %) | I 1 tilstand |
| GCDHglutaryl-CoA dehydrogenase | Ofte (30–79 %) | I 1 tilstand |
| GDAP2ganglioside induced differentiation associated protein 2 | Ofte (30–79 %) | I 1 tilstand |
| GFAPglial fibrillary acidic protein | Ofte (30–79 %) | I 2 tilstander |
| GIGYF2GRB10 interacting GYF protein 2 | Ofte (30–79 %) | I 1 tilstand |
| GLE1GLE1 RNA export mediator | Ofte (30–79 %) | I 1 tilstand |
| GLI2GLI family zinc finger 2 | Ofte (30–79 %) | I 5 tilstander |
| GLT8D1glycosyltransferase 8 domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| GNAO1G protein subunit alpha o1 | Ofte (30–79 %) | I 2 tilstander |
| GNSglucosamine (N-acetyl)-6-sulfatase | Ofte (30–79 %) | I 1 tilstand |
| GOSR2golgi SNAP receptor complex member 2 | Ofte (30–79 %) | I 1 tilstand |
| GPRC5BG protein-coupled receptor class C group 5 member B | Ofte (30–79 %) | I 1 tilstand |
| GRHL2grainyhead like transcription factor 2 | Ofte (30–79 %) | I 1 tilstand |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Ofte (30–79 %) | I 1 tilstand |
| GRM7glutamate metabotropic receptor 7 | Ofte (30–79 %) | I 2 tilstander |
| GSNgelsolin | Ofte (30–79 %) | I 1 tilstand |
| HACD13-hydroxyacyl-CoA dehydratase 1 | Ofte (30–79 %) | I 1 tilstand |
| HEPACAMhepatic and glial cell adhesion molecule | Ofte (30–79 %) | I 1 tilstand |
| HEXBhexosaminidase subunit beta | Ofte (30–79 %) | I 2 tilstander |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Ofte (30–79 %) | I 1 tilstand |
| HLA-Bmajor histocompatibility complex, class I, B | Ofte (30–79 %) | I 1 tilstand |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Ofte (30–79 %) | I 2 tilstander |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Ofte (30–79 %) | I 1 tilstand |
| HPCAhippocalcin | Ofte (30–79 %) | I 1 tilstand |
| HSPG2heparan sulfate proteoglycan 2 | Ofte (30–79 %) | I 1 tilstand |
| IKZF1IKAROS family zinc finger 1 | Ofte (30–79 %) | I 1 tilstand |
| IL6STinterleukin 6 cytokine family signal transducer | Ofte (30–79 %) | I 1 tilstand |
| IRF2BPLinterferon regulatory factor 2 binding protein like | Ofte (30–79 %) | I 1 tilstand |
| IRF5interferon regulatory factor 5 | Ofte (30–79 %) | I 2 tilstander |
| ITGA7integrin subunit alpha 7 | Ofte (30–79 %) | I 1 tilstand |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Ofte (30–79 %) | I 2 tilstander |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Ofte (30–79 %) | I 1 tilstand |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| KCND3potassium voltage-gated channel subfamily D member 3 | Ofte (30–79 %) | I 1 tilstand |
| KCNK9potassium two pore domain channel subfamily K member 9 | Ofte (30–79 %) | I 2 tilstander |
| KIAA0319LKIAA0319 like | Ofte (30–79 %) | I 1 tilstand |
| KITKIT proto-oncogene, receptor tyrosine kinase | Ofte (30–79 %) | I 2 tilstander |
| KLHL41kelch like family member 41 | Ofte (30–79 %) | I 2 tilstander |
| KMT2Alysine methyltransferase 2A | Ofte (30–79 %) | I 1 tilstand |
| KMT2Blysine methyltransferase 2B | Ofte (30–79 %) | I 1 tilstand |
| KYkyphoscoliosis peptidase | Ofte (30–79 %) | I 2 tilstander |
| LAMB2laminin subunit beta 2 | Ofte (30–79 %) | I 1 tilstand |
| LBRlamin B receptor | Ofte (30–79 %) | I 1 tilstand |
| LGI1leucine rich glioma inactivated 1 | Ofte (30–79 %) | I 1 tilstand |
| LMOD3leiomodin 3 | Ofte (30–79 %) | I 1 tilstand |
| LRP12LDL receptor related protein 12 | Ofte (30–79 %) | I 3 tilstander |
| LRRK2leucine rich repeat kinase 2 | Ofte (30–79 %) | I 1 tilstand |
| LUZP1leucine zipper protein 1 | Ofte (30–79 %) | I 1 tilstand |
| MACF1microtubule actin crosslinking factor 1 | Ofte (30–79 %) | I 2 tilstander |
| MAP2K2mitogen-activated protein kinase kinase 2 | Ofte (30–79 %) | I 1 tilstand |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Ofte (30–79 %) | I 1 tilstand |
| MATR3matrin 3 | Ofte (30–79 %) | I 3 tilstander |
| MBmyoglobin | Ofte (30–79 %) | I 1 tilstand |
| MGME1mitochondrial genome maintenance exonuclease 1 | Ofte (30–79 %) | I 1 tilstand |
| MMP23Bmatrix metallopeptidase 23B | Ofte (30–79 %) | I 1 tilstand |
| MRPS34mitochondrial ribosomal protein S34 | Ofte (30–79 %) | I 1 tilstand |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Ofte (30–79 %) | I 2 tilstander |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Ofte (30–79 %) | I 1 tilstand |
| MTHFSmethenyltetrahydrofolate synthetase | Ofte (30–79 %) | I 1 tilstand |
| MTRFRmitochondrial translation release factor in rescue | Ofte (30–79 %) | I 1 tilstand |
| MUSKmuscle associated receptor tyrosine kinase | Ofte (30–79 %) | I 2 tilstander |
| MYH11myosin heavy chain 11 | Ofte (30–79 %) | I 1 tilstand |
| MYL2myosin light chain 2 | Ofte (30–79 %) | I 1 tilstand |
| NAXENAD(P)HX epimerase | Ofte (30–79 %) | I 1 tilstand |
| NCAPG2non-SMC condensin II complex subunit G2 | Ofte (30–79 %) | I 1 tilstand |
| NEBnebulin | Ofte (30–79 %) | I 3 tilstander |
| NEFHneurofilament heavy chain | Ofte (30–79 %) | I 2 tilstander |
| NEK1NIMA related kinase 1 | Ofte (30–79 %) | I 2 tilstander |
| NEUROD2neuronal differentiation 2 | Ofte (30–79 %) | I 2 tilstander |
| NF1neurofibromin 1 | Ofte (30–79 %) | I 1 tilstand |
| NODALnodal growth differentiation factor | Ofte (30–79 %) | I 5 tilstander |
| NOP56NOP56 ribonucleoprotein | Ofte (30–79 %) | I 2 tilstander |
| NOTCH2NLCnotch 2 N-terminal like C | Ofte (30–79 %) | I 1 tilstand |
| NSRP1nuclear speckle splicing regulatory protein 1 | Ofte (30–79 %) | I 1 tilstand |
| NUP62nucleoporin 62 | Ofte (30–79 %) | I 2 tilstander |
| NUTM2B-AS1NUTM2B antisense RNA 1 | Ofte (30–79 %) | I 1 tilstand |
| OPA1OPA1 mitochondrial dynamin like GTPase | Ofte (30–79 %) | I 3 tilstander |
| OPTNoptineurin | Ofte (30–79 %) | I 2 tilstander |
| PANK2pantothenate kinase 2 | Ofte (30–79 %) | I 3 tilstander |
| PDE8Bphosphodiesterase 8B | Ofte (30–79 %) | I 1 tilstand |
| PDGFRAplatelet derived growth factor receptor alpha | Ofte (30–79 %) | I 1 tilstand |
| PDPNpodoplanin | Ofte (30–79 %) | I 1 tilstand |
| PEX1peroxisomal biogenesis factor 1 | Ofte (30–79 %) | I 1 tilstand |
| PFN1profilin 1 | Ofte (30–79 %) | I 2 tilstander |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Ofte (30–79 %) | I 1 tilstand |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Ofte (30–79 %) | I 1 tilstand |
| PLA2G6phospholipase A2 group VI | Ofte (30–79 %) | I 2 tilstander |
| PLCH1phospholipase C eta 1 | Ofte (30–79 %) | I 1 tilstand |
| PLP1proteolipid protein 1 | Ofte (30–79 %) | I 1 tilstand |
| PLXND1plexin D1 | Ofte (30–79 %) | I 1 tilstand |
| PNKPpolynucleotide kinase 3'-phosphatase | Ofte (30–79 %) | I 1 tilstand |
| POLR3ARNA polymerase III subunit A | Ofte (30–79 %) | I 3 tilstander |
| POLR3BRNA polymerase III subunit B | Ofte (30–79 %) | I 2 tilstander |
| PRDM13PR/SET domain 13 | Ofte (30–79 %) | I 1 tilstand |
| PRDM16PR/SET domain 16 | Ofte (30–79 %) | I 1 tilstand |
| PRKCZprotein kinase C zeta | Ofte (30–79 %) | I 1 tilstand |
| PRKRAprotein activator of interferon induced protein kinase EIF2AK2 | Ofte (30–79 %) | I 2 tilstander |
| PRNPprion protein (Kanno blood group) | Ofte (30–79 %) | I 2 tilstander |
| PRPHperipherin | Ofte (30–79 %) | I 2 tilstander |
| PTCH1patched 1 | Ofte (30–79 %) | I 5 tilstander |
| PTRHD1peptidyl-tRNA hydrolase domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| PYROXD1pyridine nucleotide-disulphide oxidoreductase domain 1 | Ofte (30–79 %) | I 1 tilstand |
| RAB3ARAB3A, member RAS oncogene family | Ofte (30–79 %) | I 1 tilstand |
| REPS1RALBP1 associated Eps domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| REREarginine-glutamic acid dipeptide repeats | Ofte (30–79 %) | I 2 tilstander |
| REV3LREV3 like, DNA directed polymerase zeta catalytic subunit | Ofte (30–79 %) | I 1 tilstand |
| RHBDF2rhomboid 5 homolog 2 | Ofte (30–79 %) | I 1 tilstand |
| RHOBTB2Rho related BTB domain containing 2 | Ofte (30–79 %) | I 2 tilstander |
| SATB1SATB homeobox 1 | Ofte (30–79 %) | I 1 tilstand |
| SCARB2scavenger receptor class B member 2 | Ofte (30–79 %) | I 1 tilstand |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Ofte (30–79 %) | I 2 tilstander |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Ofte (30–79 %) | I 3 tilstander |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Ofte (30–79 %) | I 2 tilstander |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Ofte (30–79 %) | I 3 tilstander |
| SDHCsuccinate dehydrogenase complex subunit C | Ofte (30–79 %) | I 3 tilstander |
| SDHDsuccinate dehydrogenase complex subunit D | Ofte (30–79 %) | I 1 tilstand |
| SELENONselenoprotein N | Ofte (30–79 %) | I 1 tilstand |
| SEMA3Esemaphorin 3E | Ofte (30–79 %) | I 1 tilstand |
| SERPING1serpin family G member 1 | Ofte (30–79 %) | I 1 tilstand |
| SHHsonic hedgehog signaling molecule | Ofte (30–79 %) | I 5 tilstander |
| SIK1salt inducible kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| SIX3SIX homeobox 3 | Ofte (30–79 %) | I 5 tilstander |
| SKISKI proto-oncogene | Ofte (30–79 %) | I 1 tilstand |
| SLC1A3solute carrier family 1 member 3 | Ofte (30–79 %) | I 1 tilstand |
| SLC1A4solute carrier family 1 member 4 | Ofte (30–79 %) | I 1 tilstand |
| SLC25A22solute carrier family 25 member 22 | Ofte (30–79 %) | I 1 tilstand |
| SLC2A1solute carrier family 2 member 1 | Ofte (30–79 %) | I 1 tilstand |
| SLC32A1solute carrier family 32 member 1 | Ofte (30–79 %) | I 1 tilstand |
| SLC9A6solute carrier family 9 member A6 | Ofte (30–79 %) | I 3 tilstander |
| SMC1Astructural maintenance of chromosomes 1A | Ofte (30–79 %) | I 1 tilstand |
| SNCAsynuclein alpha | Ofte (30–79 %) | I 3 tilstander |
| SOD1superoxide dismutase 1 | Ofte (30–79 %) | I 2 tilstander |
| SPENspen family transcriptional repressor | Ofte (30–79 %) | I 2 tilstander |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Ofte (30–79 %) | I 3 tilstander |
| SPG21SPG21 abhydrolase domain containing, maspardin | Ofte (30–79 %) | I 2 tilstander |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Ofte (30–79 %) | I 3 tilstander |
| SPTSSAserine palmitoyltransferase small subunit A | Ofte (30–79 %) | I 1 tilstand |
| SQSTM1sequestosome 1 | Ofte (30–79 %) | I 3 tilstander |
| STAG2STAG2 cohesin complex component | Ofte (30–79 %) | I 2 tilstander |
| STAT3signal transducer and activator of transcription 3 | Ofte (30–79 %) | I 1 tilstand |
| STILSTIL centriolar assembly protein | Ofte (30–79 %) | I 5 tilstander |
| STUB1STIP1 homology and U-box containing protein 1 | Ofte (30–79 %) | I 2 tilstander |
| SYT14synaptotagmin 14 | Ofte (30–79 %) | I 2 tilstander |
| TAF15TATA-box binding protein associated factor 15 | Ofte (30–79 %) | I 1 tilstand |
| TAMM41TAM41 mitochondrial translocator assembly and maintenance homolog | Ofte (30–79 %) | I 1 tilstand |
| TARDBPTAR DNA binding protein | Ofte (30–79 %) | I 4 tilstander |
| TBK1TANK binding kinase 1 | Ofte (30–79 %) | I 3 tilstander |
| TGIF1TGFB induced factor homeobox 1 | Ofte (30–79 %) | I 5 tilstander |
| TNNT1troponin T1, slow skeletal type | Ofte (30–79 %) | I 1 tilstand |
| TNPO3transportin 3 | Ofte (30–79 %) | I 1 tilstand |
| TPM2tropomyosin 2 | Ofte (30–79 %) | I 2 tilstander |
| TPM3tropomyosin 3 | Ofte (30–79 %) | I 4 tilstander |
| TREM2triggering receptor expressed on myeloid cells 2 | Ofte (30–79 %) | I 1 tilstand |
| TRIM8tripartite motif containing 8 | Ofte (30–79 %) | I 1 tilstand |
| TRIOtrio Rho guanine nucleotide exchange factor | Ofte (30–79 %) | I 1 tilstand |
| TSEN2tRNA splicing endonuclease subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| TWNKtwinkle mtDNA helicase | Ofte (30–79 %) | I 4 tilstander |
| UBE4Bubiquitination factor E4B | Ofte (30–79 %) | I 1 tilstand |
| UBQLN2ubiquilin 2 | Ofte (30–79 %) | I 3 tilstander |
| UNC45Bunc-45 myosin chaperone B | Ofte (30–79 %) | I 1 tilstand |
| VAMP1vesicle associated membrane protein 1 | Ofte (30–79 %) | I 3 tilstander |
| VAPBVAMP associated protein B and C | Ofte (30–79 %) | I 2 tilstander |
| VARS1valyl-tRNA synthetase 1 | Ofte (30–79 %) | I 1 tilstand |
| VCPvalosin containing protein | Ofte (30–79 %) | I 3 tilstander |
| VPS13Cvacuolar protein sorting 13 homolog C | Ofte (30–79 %) | I 1 tilstand |
| VPS35VPS35 retromer complex component | Ofte (30–79 %) | I 1 tilstand |
| WASHC5WASH complex subunit 5 | Ofte (30–79 %) | I 1 tilstand |
| YARS2tyrosyl-tRNA synthetase 2 | Ofte (30–79 %) | I 1 tilstand |
| ZIC2Zic family zinc finger 2 | Ofte (30–79 %) | I 5 tilstander |
| AASSaminoadipate-semialdehyde synthase | Noen ganger (5–29 %) | I 1 tilstand |
| ABCD1ATP binding cassette subfamily D member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ADGRG1adhesion G protein-coupled receptor G1 | Noen ganger (5–29 %) | I 1 tilstand |
| ADNPactivity dependent neuroprotector homeobox | Noen ganger (5–29 %) | I 1 tilstand |
| ALDH4A1aldehyde dehydrogenase 4 family member A1 | Noen ganger (5–29 %) | I 1 tilstand |
| ANKRD11ankyrin repeat domain 11 | Noen ganger (5–29 %) | I 1 tilstand |
| AOPEPaminopeptidase O (putative) | Noen ganger (5–29 %) | I 1 tilstand |
| ASAH1N-acylsphingosine amidohydrolase 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 |
| ATXN3ataxin 3 | Noen ganger (5–29 %) | I 5 tilstander |
| ATXN8ataxin 8 | Noen ganger (5–29 %) | I 2 tilstander |
| ATXN8OSATXN8 opposite strand lncRNA | Noen ganger (5–29 %) | I 3 tilstander |
| BAP1BRCA1 associated deubiquitinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| BCL11ABCL11 transcription factor A | Noen ganger (5–29 %) | I 1 tilstand |
| CARS2cysteinyl-tRNA synthetase 2, mitochondrial | Noen ganger (5–29 %) | I 1 tilstand |
| CLN8CLN8 transmembrane ER and ERGIC protein | Noen ganger (5–29 %) | I 1 tilstand |
| CMPK2cytidine/uridine monophosphate kinase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CSPP1centrosome and spindle pole associated protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CTNNB1catenin beta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DAB1DAB adaptor protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DCXdoublecortin | Noen ganger (5–29 %) | I 1 tilstand |
| DDCdopa decarboxylase | Noen ganger (5–29 %) | I 1 tilstand |
| DESdesmin | Noen ganger (5–29 %) | I 1 tilstand |
| DMPKDM1 protein kinase | Noen ganger (5–29 %) | I 2 tilstander |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Noen ganger (5–29 %) | I 1 tilstand |
| EIF5Aeukaryotic translation initiation factor 5A | Noen ganger (5–29 %) | I 1 tilstand |
| EPG5ectopic P-granules 5 autophagy tethering factor | Noen ganger (5–29 %) | I 1 tilstand |
| ERLIN1ER lipid raft associated 1 | Noen ganger (5–29 %) | I 1 tilstand |
| FKRPfukutin related protein | Noen ganger (5–29 %) | I 1 tilstand |
| FMR1fragile X messenger ribonucleoprotein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| FOXP2forkhead box P2 | Noen ganger (5–29 %) | I 1 tilstand |
| FRG1FSHD region gene 1 | Noen ganger (5–29 %) | I 1 tilstand |
| FXNfrataxin | Noen ganger (5–29 %) | I 1 tilstand |
| GMPPAGDP-mannose pyrophosphorylase A | Noen ganger (5–29 %) | I 1 tilstand |
| GNAQG protein subunit alpha q | Noen ganger (5–29 %) | I 1 tilstand |
| GNB1G protein subunit beta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GNB2G protein subunit beta 2 | Noen ganger (5–29 %) | I 1 tilstand |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Noen ganger (5–29 %) | I 1 tilstand |
| GRM1glutamate metabotropic receptor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GUCY1A1guanylate cyclase 1 soluble subunit alpha 1 | Noen ganger (5–29 %) | I 1 tilstand |
| HPDL4-hydroxyphenylpyruvate dioxygenase like | Noen ganger (5–29 %) | I 1 tilstand |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Noen ganger (5–29 %) | I 1 tilstand |
| HTRA2HtrA serine peptidase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Noen ganger (5–29 %) | I 1 tilstand |
| IDH1isocitrate dehydrogenase (NADP(+)) 1 | Noen ganger (5–29 %) | I 1 tilstand |
| IDH2isocitrate dehydrogenase (NADP(+)) 2 | Noen ganger (5–29 %) | I 1 tilstand |
| IPO8importin 8 | Noen ganger (5–29 %) | I 1 tilstand |
| IRF6interferon regulatory factor 6 | Noen ganger (5–29 %) | I 1 tilstand |
| JAG1jagged canonical Notch ligand 1 | Noen ganger (5–29 %) | I 1 tilstand |
| JAM2junctional adhesion molecule 2 | Noen ganger (5–29 %) | I 1 tilstand |
| KAT6Alysine acetyltransferase 6A | Noen ganger (5–29 %) | I 1 tilstand |
| KATNB1katanin regulatory subunit B1 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNC3potassium voltage-gated channel subfamily C member 3 | Noen ganger (5–29 %) | I 1 tilstand |
| LAMA2laminin subunit alpha 2 | Noen ganger (5–29 %) | I 1 tilstand |
| LMNB1lamin B1 | Noen ganger (5–29 %) | I 1 tilstand |
| LONP1lon peptidase 1, mitochondrial | Noen ganger (5–29 %) | I 1 tilstand |
| LRPPRCleucine rich pentatricopeptide repeat containing | Noen ganger (5–29 %) | I 2 tilstander |
| MADDMAP kinase activating death domain | Noen ganger (5–29 %) | I 1 tilstand |
| MAN2C1mannosidase alpha class 2C member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Noen ganger (5–29 %) | I 2 tilstander |
| MMP1matrix metallopeptidase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MSX1msh homeobox 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Noen ganger (5–29 %) | I 1 tilstand |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Noen ganger (5–29 %) | I 2 tilstander |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Noen ganger (5–29 %) | I 1 tilstand |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Noen ganger (5–29 %) | I 1 tilstand |
| MYORGmyogenesis regulating glycosidase | Noen ganger (5–29 %) | I 2 tilstander |
| MYOTmyotilin | Noen ganger (5–29 %) | I 1 tilstand |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Noen ganger (5–29 %) | I 2 tilstander |
| NDE1nudE neurodevelopment protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Noen ganger (5–29 %) | I 1 tilstand |
| NECTIN1nectin cell adhesion molecule 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NEFLneurofilament light chain | Noen ganger (5–29 %) | I 1 tilstand |
| NEU1neuraminidase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NF2NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | Noen ganger (5–29 %) | I 1 tilstand |
| NKX2-5NK2 homeobox 5 | Noen ganger (5–29 %) | I 1 tilstand |
| NTRK1neurotrophic receptor tyrosine kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| OCA2OCA2 melanosomal transmembrane protein | Noen ganger (5–29 %) | I 1 tilstand |
| PAX8paired box 8 | Noen ganger (5–29 %) | I 1 tilstand |
| PDGFBplatelet derived growth factor subunit B | Noen ganger (5–29 %) | I 1 tilstand |
| PDGFRBplatelet derived growth factor receptor beta | Noen ganger (5–29 %) | I 1 tilstand |
| PEX16peroxisomal biogenesis factor 16 | Noen ganger (5–29 %) | I 1 tilstand |
| PHEXphosphate regulating endopeptidase X-linked | Noen ganger (5–29 %) | I 1 tilstand |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Noen ganger (5–29 %) | I 1 tilstand |
| PIK3R5phosphoinositide-3-kinase regulatory subunit 5 | Noen ganger (5–29 %) | I 1 tilstand |
| PLECplectin | Noen ganger (5–29 %) | I 1 tilstand |
| POLG2DNA polymerase gamma 2, accessory subunit | Noen ganger (5–29 %) | I 1 tilstand |
| PPFIA3PPFI scaffold protein A3 | Noen ganger (5–29 %) | I 1 tilstand |
| PTS6-pyruvoyltetrahydropterin synthase | Noen ganger (5–29 %) | I 2 tilstander |
| PUF60poly(U) binding splicing factor 60 | Noen ganger (5–29 %) | I 1 tilstand |
| PUS3pseudouridine synthase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| REEP1receptor accessory protein 1 | Noen ganger (5–29 %) | I 2 tilstander |
| RELREL proto-oncogene, NF-kB subunit | Noen ganger (5–29 %) | I 1 tilstand |
| RELNreelin | Noen ganger (5–29 %) | I 1 tilstand |
| RNF170ring finger protein 170 | Noen ganger (5–29 %) | I 1 tilstand |
| RRP12ribosomal RNA processing 12 homolog | Noen ganger (5–29 %) | I 1 tilstand |
| SACSsacsin molecular chaperone | Noen ganger (5–29 %) | I 1 tilstand |
| SATB2SATB homeobox 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Noen ganger (5–29 %) | I 1 tilstand |
| SIGMAR1sigma receptor chaperone 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC20A2solute carrier family 20 member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC25A4solute carrier family 25 member 4 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC52A2solute carrier family 52 member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SONSON DNA and RNA binding protein | Noen ganger (5–29 %) | I 1 tilstand |
| SORDsorbitol dehydrogenase | Noen ganger (5–29 %) | I 1 tilstand |
| SOX9SRY-box transcription factor 9 | Noen ganger (5–29 %) | I 1 tilstand |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SPTLC2serine palmitoyltransferase long chain base subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SRD5A3steroid 5 alpha-reductase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| SRPX2sushi repeat containing protein X-linked 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SYT2synaptotagmin 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TANGO2transport and golgi organization 2 homolog | Noen ganger (5–29 %) | I 1 tilstand |
| TBCDtubulin folding cofactor D | Noen ganger (5–29 %) | I 1 tilstand |
| TFGtrafficking from ER to golgi regulator | Noen ganger (5–29 %) | I 1 tilstand |
| THAP11THAP domain containing 11 | Noen ganger (5–29 %) | I 1 tilstand |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Noen ganger (5–29 %) | I 2 tilstander |
| TP63tumor protein p63 | Noen ganger (5–29 %) | I 1 tilstand |
| TPP1tripeptidyl peptidase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TRA2Btransformer 2 beta homolog | Noen ganger (5–29 %) | I 1 tilstand |
| TRAPPC6Btrafficking protein particle complex subunit 6B | Noen ganger (5–29 %) | I 1 tilstand |
| TRMT2BtRNA methyltransferase 2B | Noen ganger (5–29 %) | I 1 tilstand |
| TTC19tetratricopeptide repeat domain 19 | Noen ganger (5–29 %) | I 1 tilstand |
| TUBA4Atubulin alpha 4a | Noen ganger (5–29 %) | I 1 tilstand |
| TUBB4Atubulin beta 4A class IVa | Noen ganger (5–29 %) | I 2 tilstander |
| TUBB6tubulin beta 6 class V | Noen ganger (5–29 %) | I 1 tilstand |
| TYMSthymidylate synthetase | Noen ganger (5–29 %) | I 1 tilstand |
| UBE3Aubiquitin protein ligase E3A | Noen ganger (5–29 %) | I 3 tilstander |
| UCHL1ubiquitin C-terminal hydrolase L1 | Noen ganger (5–29 %) | I 1 tilstand |
| WACWW domain containing adaptor with coiled-coil | Noen ganger (5–29 %) | I 1 tilstand |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Noen ganger (5–29 %) | I 2 tilstander |
| WSB2WD repeat and SOCS box containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| XPO1exportin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| XPR1xenotropic and polytropic retrovirus receptor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ZFXzinc finger protein X-linked | Noen ganger (5–29 %) | I 1 tilstand |
| ZMYM2zinc finger MYM-type containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Sjelden (1–4%) | I 1 tilstand |
| CLCN1chloride voltage-gated channel 1 | Sjelden (1–4%) | I 2 tilstander |
| CYP7B1cytochrome P450 family 7 subfamily B member 1 | Sjelden (1–4%) | I 1 tilstand |
| DNM1Ldynamin 1L | Sjelden (1–4%) | I 1 tilstand |
| DYSFdysferlin | Sjelden (1–4%) | I 1 tilstand |
| EXT1exostosin glycosyltransferase 1 | Sjelden (1–4%) | I 1 tilstand |
| EXT2exostosin glycosyltransferase 2 | Sjelden (1–4%) | I 1 tilstand |
| FA2Hfatty acid 2-hydroxylase | Sjelden (1–4%) | I 1 tilstand |
| FGF10fibroblast growth factor 10 | Sjelden (1–4%) | I 1 tilstand |
| FGFR2fibroblast growth factor receptor 2 | Sjelden (1–4%) | I 1 tilstand |
| FGFR3fibroblast growth factor receptor 3 | Sjelden (1–4%) | I 1 tilstand |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Sjelden (1–4%) | I 1 tilstand |
| PPIBpeptidylprolyl isomerase B | Sjelden (1–4%) | I 1 tilstand |
| PYGMglycogen phosphorylase, muscle associated | Sjelden (1–4%) | I 1 tilstand |
| RNU4-2RNA, U4 small nuclear 2 | Sjelden (1–4%) | I 1 tilstand |
| SETBP1SET binding protein 1 | Sjelden (1–4%) | I 1 tilstand |
| ZEB2zinc finger E-box binding homeobox 2 | Sjelden (1–4%) | I 2 tilstander |
| ACTG2actin gamma 2, smooth muscle | Ikke registrert | I 1 tilstand |
| ADH1Calcohol dehydrogenase 1C (class I), gamma polypeptide | Ikke registrert | I 1 tilstand |
| APOEapolipoprotein E | Ikke registrert | I 1 tilstand |
| ARandrogen receptor | Ikke registrert | I 1 tilstand |
| ATP7BATPase copper transporting beta | Ikke registrert | I 1 tilstand |
| ATXN10ataxin 10 | Ikke registrert | I 1 tilstand |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Ikke registrert | I 1 tilstand |
| CAVIN1caveolae associated protein 1 | Ikke registrert | I 1 tilstand |
| CHATcholine O-acetyltransferase | Ikke registrert | I 1 tilstand |
| CHMP1Acharged multivesicular body protein 1A | Ikke registrert | I 1 tilstand |
| CHRNA1cholinergic receptor nicotinic alpha 1 subunit | Ikke registrert | I 2 tilstander |
| CHRNEcholinergic receptor nicotinic epsilon subunit | Ikke registrert | I 2 tilstander |
| CTNScystinosin, lysosomal cystine transporter | Ikke registrert | I 1 tilstand |
| FLAD1flavin adenine dinucleotide synthetase 1 | Ikke registrert | I 1 tilstand |
| FLNCfilamin C | Ikke registrert | I 1 tilstand |
| GCH1GTP cyclohydrolase 1 | Ikke registrert | I 1 tilstand |
| GEMIN4gem nuclear organelle associated protein 4 | Ikke registrert | I 1 tilstand |
| GFPT1glutamine--fructose-6-phosphate transaminase 1 | Ikke registrert | I 1 tilstand |
| GJB1gap junction protein beta 1 | Ikke registrert | I 1 tilstand |
| HOXB1homeobox B1 | Ikke registrert | I 1 tilstand |
| HPRT1hypoxanthine phosphoribosyltransferase 1 | Ikke registrert | I 1 tilstand |
| HTThuntingtin | Ikke registrert | I 1 tilstand |
| KAT6Blysine acetyltransferase 6B | Ikke registrert | I 1 tilstand |
| LIFRLIF receptor subunit alpha | Ikke registrert | I 1 tilstand |
| MECP2methyl-CpG binding protein 2 | Ikke registrert | I 1 tilstand |
| MPZmyelin protein zero | Ikke registrert | I 1 tilstand |
| MT-TTmitochondrially encoded tRNA-Thr (ACN) | Ikke registrert | I 1 tilstand |
| MYH14myosin heavy chain 14 | Ikke registrert | I 1 tilstand |
| MYH8myosin heavy chain 8 | Ikke registrert | I 1 tilstand |
| MYO9Amyosin IXA | Ikke registrert | I 1 tilstand |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Ikke registrert | I 1 tilstand |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Ikke registrert | I 1 tilstand |
| NDUFS3NADH:ubiquinone oxidoreductase core subunit S3 | Ikke registrert | I 1 tilstand |
| NPC1NPC intracellular cholesterol transporter 1 | Ikke registrert | I 1 tilstand |
| NPC2NPC intracellular cholesterol transporter 2 | Ikke registrert | I 1 tilstand |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Ikke registrert | I 1 tilstand |
| PAX7paired box 7 | Ikke registrert | I 1 tilstand |
| PCNAproliferating cell nuclear antigen | Ikke registrert | I 1 tilstand |
| PDP1pyruvate dehydrogenase phosphatase catalytic subunit 1 | Ikke registrert | I 1 tilstand |
| PLAAphospholipase A2 activating protein | Ikke registrert | I 1 tilstand |
| PLIN4perilipin 4 | Ikke registrert | I 1 tilstand |
| PNKDPNKD metallo-beta-lactamase domain containing | Ikke registrert | I 1 tilstand |
| PRKCGprotein kinase C gamma | Ikke registrert | I 1 tilstand |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Ikke registrert | I 1 tilstand |
| PSAPprosaposin | Ikke registrert | I 1 tilstand |
| PSEN1presenilin 1 | Ikke registrert | I 1 tilstand |
| RLIMring finger protein, LIM domain interacting | Ikke registrert | I 1 tilstand |
| SLC12A2solute carrier family 12 member 2 | Ikke registrert | I 1 tilstand |
| SLC52A3solute carrier family 52 member 3 | Ikke registrert | I 2 tilstander |
| SLC6A9solute carrier family 6 member 9 | Ikke registrert | I 1 tilstand |
| SNCAIPsynuclein alpha interacting protein | Ikke registrert | I 1 tilstand |
| TBC1D23TBC1 domain family member 23 | Ikke registrert | I 1 tilstand |
| TBPTATA-box binding protein | Ikke registrert | I 2 tilstander |
| VAC14VAC14 component of PIKFYVE complex | Ikke registrert | I 1 tilstand |
| WFS1wolframin ER transmembrane glycoprotein | Ikke registrert | I 1 tilstand |
| ZC4H2zinc finger C4H2-type containing | 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.
Smalere egenskaper
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 2026.10.17-8666dff2.
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