Træk
Poor swallowing
Klinisk navn: Dysphagia
Difficulty in swallowing.
Resumé
- Også kaldet
- Swallowing difficulties, Swallowing difficulty, Difficulty swallowing
ReferencegenomGRCh38hg38
Positioner på gen- og variantsider følger dette valg i denne browser.
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Bestil min Genome Test569 gener knyttet til Poor swallowing
Ændringer i disse gener forårsager sjældne tilstande, hvor Poor swallowing ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| ACTBactin beta | Altid | I 2 tilstande |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Altid | I 2 tilstande |
| AHDC1AT-hook DNA binding motif containing 1 | Altid | I 1 tilstand |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Altid | I 5 tilstande |
| AMOTL1angiomotin like 1 | Altid | I 1 tilstand |
| APTXaprataxin | Altid | I 1 tilstand |
| ASCC1activating signal cointegrator 1 complex subunit 1 | Altid | I 1 tilstand |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Altid | I 1 tilstand |
| CCT3chaperonin containing TCP1 subunit 3 | Altid | I 1 tilstand |
| CHRNDcholinergic receptor nicotinic delta subunit | Altid | I 2 tilstande |
| CILK1ciliogenesis associated kinase 1 | Altid | I 1 tilstand |
| COQ2coenzyme Q2, polyprenyltransferase | Altid | I 1 tilstand |
| COX18cytochrome c oxidase assembly factor COX18 | Altid | I 1 tilstand |
| CSF1Rcolony stimulating factor 1 receptor | Altid | I 1 tilstand |
| CTSAcathepsin A | Altid | I 1 tilstand |
| DONSONDNA replication fork stabilization factor DONSON | Altid | I 1 tilstand |
| DSTdystonin | Altid | I 1 tilstand |
| EBF3EBF transcription factor 3 | Altid | I 1 tilstand |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Altid | I 1 tilstand |
| EIF4A2eukaryotic translation initiation factor 4A2 | Altid | I 1 tilstand |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Altid | I 1 tilstand |
| EXOSC5exosome component 5 | Altid | I 1 tilstand |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Altid | I 1 tilstand |
| FDXRferredoxin reductase | Altid | I 1 tilstand |
| GLB1galactosidase beta 1 | Altid | I 1 tilstand |
| GTPBP1GTP binding protein 1 | Altid | I 1 tilstand |
| GUK1guanylate kinase 1 | Altid | I 1 tilstand |
| HIVEP2HIVEP zinc finger 2 | Altid | I 1 tilstand |
| HNRNPA2B1heterogeneous nuclear ribonucleoprotein A2/B1 | Altid | I 1 tilstand |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Altid | I 1 tilstand |
| JPH1junctophilin 1 | Altid | I 1 tilstand |
| KCNK3potassium two pore domain channel subfamily K member 3 | Altid | I 1 tilstand |
| KDM6Blysine demethylase 6B | Altid | I 1 tilstand |
| KIF5Akinesin family member 5A | Altid | I 1 tilstand |
| KLHL7kelch like family member 7 | Altid | I 1 tilstand |
| MAPTmicrotubule associated protein tau | Altid | I 4 tilstande |
| MCCC1methylcrotonyl-CoA carboxylase subunit 1 | Altid | I 1 tilstand |
| MED16mediator complex subunit 16 | Altid | I 1 tilstand |
| MED17mediator complex subunit 17 | Altid | I 1 tilstand |
| MEGF10multiple EGF like domains 10 | Altid | I 2 tilstande |
Vis 529 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| MFFmitochondrial fission factor | Altid | I 2 tilstande |
| MINPP1multiple inositol-polyphosphate phosphatase 1 | Altid | I 1 tilstand |
| MRPS25mitochondrial ribosomal protein S25 | Altid | I 1 tilstand |
| MRPS28mitochondrial ribosomal protein S28 | Altid | I 1 tilstand |
| MSL2MSL complex subunit 2 | Altid | I 1 tilstand |
| MYH2myosin heavy chain 2 | Altid | I 1 tilstand |
| MYMKmyomaker, myoblast fusion factor | Altid | I 1 tilstand |
| MYO1Hmyosin IH | Altid | I 1 tilstand |
| NDC1NDC1 transmembrane nucleoporin | Altid | I 1 tilstand |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Altid | I 1 tilstand |
| NOTCH3notch receptor 3 | Altid | I 2 tilstande |
| NUP54nucleoporin 54 | Altid | I 2 tilstande |
| PI4KAphosphatidylinositol 4-kinase alpha | Altid | I 2 tilstande |
| POLGDNA polymerase gamma, catalytic subunit | Altid | I 8 tilstande |
| POLR1ARNA polymerase I subunit A | Altid | I 1 tilstand |
| RAB32RAB32, member RAS oncogene family | Altid | I 1 tilstand |
| RFC4replication factor C subunit 4 | Altid | I 1 tilstand |
| RNASEH1ribonuclease H1 | Altid | I 2 tilstande |
| RNU2-2RNA, U2 small nuclear 2 | Altid | I 1 tilstand |
| SETXsenataxin | Altid | I 2 tilstande |
| SLC19A3solute carrier family 19 member 3 | Altid | I 1 tilstand |
| SNF8SNF8 subunit of ESCRT-II | Altid | I 1 tilstand |
| SPARTspartin | Altid | I 2 tilstande |
| SPTBN4spectrin beta, non-erythrocytic 4 | Altid | I 1 tilstand |
| SYNJ1synaptojanin 1 | Altid | I 1 tilstand |
| TK2thymidine kinase 2 | Altid | I 2 tilstande |
| TMEM63Btransmembrane protein 63B | Altid | I 1 tilstand |
| TOP3ADNA topoisomerase III alpha | Altid | I 2 tilstande |
| TOR1Atorsin family 1 member A | Altid | I 1 tilstand |
| TRAPPC12trafficking protein particle complex subunit 12 | Altid | I 2 tilstande |
| TRIP4thyroid hormone receptor interactor 4 | Altid | I 1 tilstand |
| TSEN54tRNA splicing endonuclease subunit 54 | Altid | I 2 tilstande |
| UNC13Aunc-13 homolog A | Altid | I 2 tilstande |
| VPS11VPS11 core subunit of CORVET and HOPS complexes | Altid | I 1 tilstand |
| VPS13Avacuolar protein sorting 13 homolog A | Altid | I 2 tilstande |
| VRK1VRK serine/threonine kinase 1 | Altid | I 1 tilstand |
| XRCC1X-ray repair cross complementing 1 | Altid | I 1 tilstand |
| ACTA1actin alpha 1, skeletal muscle | Meget ofte (80–99 %) | I 6 tilstande |
| AMPD2adenosine monophosphate deaminase 2 | Meget ofte (80–99 %) | I 1 tilstand |
| APPamyloid beta precursor protein | Meget ofte (80–99 %) | I 1 tilstand |
| ATXN7ataxin 7 | Meget ofte (80–99 %) | I 2 tilstande |
| COL4A5collagen type IV alpha 5 chain | Meget ofte (80–99 %) | I 1 tilstand |
| COL4A6collagen type IV alpha 6 chain | Meget ofte (80–99 %) | I 1 tilstand |
| COQ4coenzyme Q4 | Meget ofte (80–99 %) | I 1 tilstand |
| CRLF1cytokine receptor like factor 1 | Meget ofte (80–99 %) | I 1 tilstand |
| CRYABcrystallin alpha B | Meget ofte (80–99 %) | I 1 tilstand |
| FTH1ferritin heavy chain 1 | Meget ofte (80–99 %) | I 1 tilstand |
| GBA1glucosylceramidase beta 1 | Meget ofte (80–99 %) | I 5 tilstande |
| GTPBP2GTP binding protein 2 | Meget ofte (80–99 %) | I 1 tilstand |
| HLA-DQA1major histocompatibility complex, class II, DQ alpha 1 | Meget ofte (80–99 %) | I 1 tilstand |
| HLA-DQB1major histocompatibility complex, class II, DQ beta 1 | Meget ofte (80–99 %) | I 1 tilstand |
| KLHL40kelch like family member 40 | Meget ofte (80–99 %) | I 2 tilstande |
| LIG3DNA ligase 3 | Meget ofte (80–99 %) | I 2 tilstande |
| LMX1BLIM homeobox transcription factor 1 beta | Meget ofte (80–99 %) | I 1 tilstand |
| MID1midline 1 | Meget ofte (80–99 %) | I 2 tilstande |
| NOS1nitric oxide synthase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| PABPN1poly(A) binding protein nuclear 1 | Meget ofte (80–99 %) | I 2 tilstande |
| PRDX3peroxiredoxin 3 | Meget ofte (80–99 %) | I 1 tilstand |
| QDPRquinoid dihydropteridine reductase | Meget ofte (80–99 %) | I 2 tilstande |
| RILPL1Rab interacting lysosomal protein like 1 | Meget ofte (80–99 %) | I 1 tilstand |
| RRM1ribonucleotide reductase catalytic subunit M1 | Meget ofte (80–99 %) | I 2 tilstande |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Meget ofte (80–99 %) | I 5 tilstande |
| SLC44A1solute carrier family 44 member 1 | Meget ofte (80–99 %) | I 1 tilstand |
| SLC5A7solute carrier family 5 member 7 | Meget ofte (80–99 %) | I 1 tilstand |
| STXBP1syntaxin binding protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| TTBK2tau tubulin kinase 2 | Meget ofte (80–99 %) | I 1 tilstand |
| TYMPthymidine phosphorylase | Meget ofte (80–99 %) | I 2 tilstande |
| UBTFupstream binding transcription factor | Meget ofte (80–99 %) | I 2 tilstande |
| ABCD3ATP binding cassette subfamily D member 3 | Ofte (30–79 %) | I 1 tilstand |
| ACOX1acyl-CoA oxidase 1 | Ofte (30–79 %) | I 2 tilstande |
| 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 tilstande |
| ARXaristaless related homeobox | Ofte (30–79 %) | I 2 tilstande |
| ATN1atrophin 1 | Ofte (30–79 %) | I 1 tilstand |
| ATP13A2ATPase cation transporting 13A2 | Ofte (30–79 %) | I 3 tilstande |
| 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 tilstande |
| 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 tilstande |
| ATXN2ataxin 2 | Ofte (30–79 %) | I 3 tilstande |
| BORCS8BLOC-1 related complex subunit 8 | Ofte (30–79 %) | I 1 tilstand |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Ofte (30–79 %) | I 3 tilstande |
| 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 tilstande |
| 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 tilstande |
| CCN2cellular communication network factor 2 | Ofte (30–79 %) | I 2 tilstande |
| CCNFcyclin F | Ofte (30–79 %) | I 1 tilstand |
| CCR6C-C motif chemokine receptor 6 | Ofte (30–79 %) | I 2 tilstande |
| CDC73cell division cycle 73 | Ofte (30–79 %) | I 2 tilstande |
| CDKL5cyclin dependent kinase like 5 | Ofte (30–79 %) | I 1 tilstand |
| CDONcell adhesion associated, oncogene regulated | Ofte (30–79 %) | I 5 tilstande |
| 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 tilstande |
| CHD7chromodomain helicase DNA binding protein 7 | Ofte (30–79 %) | I 2 tilstande |
| 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 tilstande |
| COLQcollagen like tail subunit of asymmetric acetylcholinesterase | Ofte (30–79 %) | I 2 tilstande |
| CRIPTOcripto, EGF-CFC family member | Ofte (30–79 %) | I 5 tilstande |
| 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 tilstande |
| DDHD2DDHD domain containing 2 | Ofte (30–79 %) | I 2 tilstande |
| DGUOKdeoxyguanosine kinase | Ofte (30–79 %) | I 2 tilstande |
| DISP1dispatched RND transporter family member 1 | Ofte (30–79 %) | I 5 tilstande |
| DKK1dickkopf Wnt signaling pathway inhibitor 1 | Ofte (30–79 %) | I 1 tilstand |
| DLL1delta like canonical Notch ligand 1 | Ofte (30–79 %) | I 5 tilstande |
| DMXL2Dmx like 2 | Ofte (30–79 %) | I 1 tilstand |
| DNAJB6DnaJ heat shock protein family (Hsp40) member B6 | Ofte (30–79 %) | I 2 tilstande |
| 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 tilstande |
| 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 tilstande |
| FGF8fibroblast growth factor 8 | Ofte (30–79 %) | I 5 tilstande |
| FGFR1fibroblast growth factor receptor 1 | Ofte (30–79 %) | I 2 tilstande |
| FIG4FIG4 phosphoinositide 5-phosphatase | Ofte (30–79 %) | I 1 tilstand |
| FOXH1forkhead box H1 | Ofte (30–79 %) | I 5 tilstande |
| FTLferritin light chain | Ofte (30–79 %) | I 2 tilstande |
| FUSFUS RNA binding protein | Ofte (30–79 %) | I 3 tilstande |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Ofte (30–79 %) | I 1 tilstand |
| GAS1growth arrest specific 1 | Ofte (30–79 %) | I 5 tilstande |
| 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 tilstande |
| 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 tilstande |
| GLT8D1glycosyltransferase 8 domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| GNAO1G protein subunit alpha o1 | Ofte (30–79 %) | I 2 tilstande |
| 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 tilstande |
| 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 tilstande |
| 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 tilstande |
| 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 tilstande |
| ITGA7integrin subunit alpha 7 | Ofte (30–79 %) | I 1 tilstand |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Ofte (30–79 %) | I 2 tilstande |
| 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 tilstande |
| KIAA0319LKIAA0319 like | Ofte (30–79 %) | I 1 tilstand |
| KITKIT proto-oncogene, receptor tyrosine kinase | Ofte (30–79 %) | I 2 tilstande |
| KLHL41kelch like family member 41 | Ofte (30–79 %) | I 2 tilstande |
| 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 tilstande |
| 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 tilstande |
| 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 tilstande |
| 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 tilstande |
| 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 tilstande |
| 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 tilstande |
| 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 tilstande |
| NEFHneurofilament heavy chain | Ofte (30–79 %) | I 2 tilstande |
| NEK1NIMA related kinase 1 | Ofte (30–79 %) | I 2 tilstande |
| NEUROD2neuronal differentiation 2 | Ofte (30–79 %) | I 2 tilstande |
| NF1neurofibromin 1 | Ofte (30–79 %) | I 1 tilstand |
| NODALnodal growth differentiation factor | Ofte (30–79 %) | I 5 tilstande |
| NOP56NOP56 ribonucleoprotein | Ofte (30–79 %) | I 2 tilstande |
| 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 tilstande |
| NUTM2B-AS1NUTM2B antisense RNA 1 | Ofte (30–79 %) | I 1 tilstand |
| OPA1OPA1 mitochondrial dynamin like GTPase | Ofte (30–79 %) | I 3 tilstande |
| OPTNoptineurin | Ofte (30–79 %) | I 2 tilstande |
| PANK2pantothenate kinase 2 | Ofte (30–79 %) | I 3 tilstande |
| 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 tilstande |
| 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 tilstande |
| 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 tilstande |
| POLR3BRNA polymerase III subunit B | Ofte (30–79 %) | I 2 tilstande |
| 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 tilstande |
| PRNPprion protein (Kanno blood group) | Ofte (30–79 %) | I 2 tilstande |
| PRPHperipherin | Ofte (30–79 %) | I 2 tilstande |
| PTCH1patched 1 | Ofte (30–79 %) | I 5 tilstande |
| 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 tilstande |
| 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 tilstande |
| 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 tilstande |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Ofte (30–79 %) | I 3 tilstande |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Ofte (30–79 %) | I 2 tilstande |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Ofte (30–79 %) | I 3 tilstande |
| SDHCsuccinate dehydrogenase complex subunit C | Ofte (30–79 %) | I 3 tilstande |
| 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 tilstande |
| SIK1salt inducible kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| SIX3SIX homeobox 3 | Ofte (30–79 %) | I 5 tilstande |
| 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 tilstande |
| SMC1Astructural maintenance of chromosomes 1A | Ofte (30–79 %) | I 1 tilstand |
| SNCAsynuclein alpha | Ofte (30–79 %) | I 3 tilstande |
| SOD1superoxide dismutase 1 | Ofte (30–79 %) | I 2 tilstande |
| SPENspen family transcriptional repressor | Ofte (30–79 %) | I 2 tilstande |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Ofte (30–79 %) | I 3 tilstande |
| SPG21SPG21 abhydrolase domain containing, maspardin | Ofte (30–79 %) | I 2 tilstande |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Ofte (30–79 %) | I 3 tilstande |
| SPTSSAserine palmitoyltransferase small subunit A | Ofte (30–79 %) | I 1 tilstand |
| SQSTM1sequestosome 1 | Ofte (30–79 %) | I 3 tilstande |
| STAG2STAG2 cohesin complex component | Ofte (30–79 %) | I 2 tilstande |
| STAT3signal transducer and activator of transcription 3 | Ofte (30–79 %) | I 1 tilstand |
| STILSTIL centriolar assembly protein | Ofte (30–79 %) | I 5 tilstande |
| STUB1STIP1 homology and U-box containing protein 1 | Ofte (30–79 %) | I 2 tilstande |
| SYT14synaptotagmin 14 | Ofte (30–79 %) | I 2 tilstande |
| 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 tilstande |
| TBK1TANK binding kinase 1 | Ofte (30–79 %) | I 3 tilstande |
| TGIF1TGFB induced factor homeobox 1 | Ofte (30–79 %) | I 5 tilstande |
| 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 tilstande |
| TPM3tropomyosin 3 | Ofte (30–79 %) | I 4 tilstande |
| 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 tilstande |
| UBE4Bubiquitination factor E4B | Ofte (30–79 %) | I 1 tilstand |
| UBQLN2ubiquilin 2 | Ofte (30–79 %) | I 3 tilstande |
| UNC45Bunc-45 myosin chaperone B | Ofte (30–79 %) | I 1 tilstand |
| VAMP1vesicle associated membrane protein 1 | Ofte (30–79 %) | I 3 tilstande |
| VAPBVAMP associated protein B and C | Ofte (30–79 %) | I 2 tilstande |
| VARS1valyl-tRNA synthetase 1 | Ofte (30–79 %) | I 1 tilstand |
| VCPvalosin containing protein | Ofte (30–79 %) | I 3 tilstande |
| 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 tilstande |
| AASSaminoadipate-semialdehyde synthase | Nogle gange (5–29 %) | I 1 tilstand |
| ABCD1ATP binding cassette subfamily D member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ADGRG1adhesion G protein-coupled receptor G1 | Nogle gange (5–29 %) | I 1 tilstand |
| ADNPactivity dependent neuroprotector homeobox | Nogle gange (5–29 %) | I 1 tilstand |
| ALDH4A1aldehyde dehydrogenase 4 family member A1 | Nogle gange (5–29 %) | I 1 tilstand |
| ANKRD11ankyrin repeat domain 11 | Nogle gange (5–29 %) | I 1 tilstand |
| AOPEPaminopeptidase O (putative) | Nogle gange (5–29 %) | I 1 tilstand |
| ASAH1N-acylsphingosine amidohydrolase 1 | Nogle gange (5–29 %) | I 2 tilstande |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Nogle gange (5–29 %) | I 1 tilstand |
| ATG7autophagy related 7 | Nogle gange (5–29 %) | I 1 tilstand |
| ATXN3ataxin 3 | Nogle gange (5–29 %) | I 5 tilstande |
| ATXN8ataxin 8 | Nogle gange (5–29 %) | I 2 tilstande |
| ATXN8OSATXN8 opposite strand lncRNA | Nogle gange (5–29 %) | I 3 tilstande |
| BAP1BRCA1 associated deubiquitinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| BCL11ABCL11 transcription factor A | Nogle gange (5–29 %) | I 1 tilstand |
| CARS2cysteinyl-tRNA synthetase 2, mitochondrial | Nogle gange (5–29 %) | I 1 tilstand |
| CLN8CLN8 transmembrane ER and ERGIC protein | Nogle gange (5–29 %) | I 1 tilstand |
| CMPK2cytidine/uridine monophosphate kinase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| CSPP1centrosome and spindle pole associated protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CTNNB1catenin beta 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DAB1DAB adaptor protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DCXdoublecortin | Nogle gange (5–29 %) | I 1 tilstand |
| DDCdopa decarboxylase | Nogle gange (5–29 %) | I 1 tilstand |
| DESdesmin | Nogle gange (5–29 %) | I 1 tilstand |
| DMPKDM1 protein kinase | Nogle gange (5–29 %) | I 2 tilstande |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Nogle gange (5–29 %) | I 1 tilstand |
| EIF5Aeukaryotic translation initiation factor 5A | Nogle gange (5–29 %) | I 1 tilstand |
| EPG5ectopic P-granules 5 autophagy tethering factor | Nogle gange (5–29 %) | I 1 tilstand |
| ERLIN1ER lipid raft associated 1 | Nogle gange (5–29 %) | I 1 tilstand |
| FKRPfukutin related protein | Nogle gange (5–29 %) | I 1 tilstand |
| FMR1fragile X messenger ribonucleoprotein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| FOXP2forkhead box P2 | Nogle gange (5–29 %) | I 1 tilstand |
| FRG1FSHD region gene 1 | Nogle gange (5–29 %) | I 1 tilstand |
| FXNfrataxin | Nogle gange (5–29 %) | I 1 tilstand |
| GMPPAGDP-mannose pyrophosphorylase A | Nogle gange (5–29 %) | I 1 tilstand |
| GNAQG protein subunit alpha q | Nogle gange (5–29 %) | I 1 tilstand |
| GNB1G protein subunit beta 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GNB2G protein subunit beta 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Nogle gange (5–29 %) | I 1 tilstand |
| GRM1glutamate metabotropic receptor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GUCY1A1guanylate cyclase 1 soluble subunit alpha 1 | Nogle gange (5–29 %) | I 1 tilstand |
| HPDL4-hydroxyphenylpyruvate dioxygenase like | Nogle gange (5–29 %) | I 1 tilstand |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Nogle gange (5–29 %) | I 1 tilstand |
| HTRA2HtrA serine peptidase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Nogle gange (5–29 %) | I 1 tilstand |
| IDH1isocitrate dehydrogenase (NADP(+)) 1 | Nogle gange (5–29 %) | I 1 tilstand |
| IDH2isocitrate dehydrogenase (NADP(+)) 2 | Nogle gange (5–29 %) | I 1 tilstand |
| IPO8importin 8 | Nogle gange (5–29 %) | I 1 tilstand |
| IRF6interferon regulatory factor 6 | Nogle gange (5–29 %) | I 1 tilstand |
| JAG1jagged canonical Notch ligand 1 | Nogle gange (5–29 %) | I 1 tilstand |
| JAM2junctional adhesion molecule 2 | Nogle gange (5–29 %) | I 1 tilstand |
| KAT6Alysine acetyltransferase 6A | Nogle gange (5–29 %) | I 1 tilstand |
| KATNB1katanin regulatory subunit B1 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNC3potassium voltage-gated channel subfamily C member 3 | Nogle gange (5–29 %) | I 1 tilstand |
| LAMA2laminin subunit alpha 2 | Nogle gange (5–29 %) | I 1 tilstand |
| LMNB1lamin B1 | Nogle gange (5–29 %) | I 1 tilstand |
| LONP1lon peptidase 1, mitochondrial | Nogle gange (5–29 %) | I 1 tilstand |
| LRPPRCleucine rich pentatricopeptide repeat containing | Nogle gange (5–29 %) | I 2 tilstande |
| MADDMAP kinase activating death domain | Nogle gange (5–29 %) | I 1 tilstand |
| MAN2C1mannosidase alpha class 2C member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Nogle gange (5–29 %) | I 2 tilstande |
| MMP1matrix metallopeptidase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MSX1msh homeobox 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Nogle gange (5–29 %) | I 1 tilstand |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Nogle gange (5–29 %) | I 2 tilstande |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Nogle gange (5–29 %) | I 1 tilstand |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Nogle gange (5–29 %) | I 1 tilstand |
| MYORGmyogenesis regulating glycosidase | Nogle gange (5–29 %) | I 2 tilstande |
| MYOTmyotilin | Nogle gange (5–29 %) | I 1 tilstand |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Nogle gange (5–29 %) | I 2 tilstande |
| NDE1nudE neurodevelopment protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Nogle gange (5–29 %) | I 1 tilstand |
| NECTIN1nectin cell adhesion molecule 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NEFLneurofilament light chain | Nogle gange (5–29 %) | I 1 tilstand |
| NEU1neuraminidase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NF2NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | Nogle gange (5–29 %) | I 1 tilstand |
| NKX2-5NK2 homeobox 5 | Nogle gange (5–29 %) | I 1 tilstand |
| NTRK1neurotrophic receptor tyrosine kinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| OCA2OCA2 melanosomal transmembrane protein | Nogle gange (5–29 %) | I 1 tilstand |
| PAX8paired box 8 | Nogle gange (5–29 %) | I 1 tilstand |
| PDGFBplatelet derived growth factor subunit B | Nogle gange (5–29 %) | I 1 tilstand |
| PDGFRBplatelet derived growth factor receptor beta | Nogle gange (5–29 %) | I 1 tilstand |
| PEX16peroxisomal biogenesis factor 16 | Nogle gange (5–29 %) | I 1 tilstand |
| PHEXphosphate regulating endopeptidase X-linked | Nogle gange (5–29 %) | I 1 tilstand |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Nogle gange (5–29 %) | I 1 tilstand |
| PIK3R5phosphoinositide-3-kinase regulatory subunit 5 | Nogle gange (5–29 %) | I 1 tilstand |
| PLECplectin | Nogle gange (5–29 %) | I 1 tilstand |
| POLG2DNA polymerase gamma 2, accessory subunit | Nogle gange (5–29 %) | I 1 tilstand |
| PPFIA3PPFI scaffold protein A3 | Nogle gange (5–29 %) | I 1 tilstand |
| PTS6-pyruvoyltetrahydropterin synthase | Nogle gange (5–29 %) | I 2 tilstande |
| PUF60poly(U) binding splicing factor 60 | Nogle gange (5–29 %) | I 1 tilstand |
| PUS3pseudouridine synthase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| REEP1receptor accessory protein 1 | Nogle gange (5–29 %) | I 2 tilstande |
| RELREL proto-oncogene, NF-kB subunit | Nogle gange (5–29 %) | I 1 tilstand |
| RELNreelin | Nogle gange (5–29 %) | I 1 tilstand |
| RNF170ring finger protein 170 | Nogle gange (5–29 %) | I 1 tilstand |
| RRP12ribosomal RNA processing 12 homolog | Nogle gange (5–29 %) | I 1 tilstand |
| SACSsacsin molecular chaperone | Nogle gange (5–29 %) | I 1 tilstand |
| SATB2SATB homeobox 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Nogle gange (5–29 %) | I 1 tilstand |
| SIGMAR1sigma receptor chaperone 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC20A2solute carrier family 20 member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC25A4solute carrier family 25 member 4 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC52A2solute carrier family 52 member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SONSON DNA and RNA binding protein | Nogle gange (5–29 %) | I 1 tilstand |
| SORDsorbitol dehydrogenase | Nogle gange (5–29 %) | I 1 tilstand |
| SOX9SRY-box transcription factor 9 | Nogle gange (5–29 %) | I 1 tilstand |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SPTLC2serine palmitoyltransferase long chain base subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SRD5A3steroid 5 alpha-reductase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| SRPX2sushi repeat containing protein X-linked 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SYT2synaptotagmin 2 | Nogle gange (5–29 %) | I 1 tilstand |
| TANGO2transport and golgi organization 2 homolog | Nogle gange (5–29 %) | I 1 tilstand |
| TBCDtubulin folding cofactor D | Nogle gange (5–29 %) | I 1 tilstand |
| TFGtrafficking from ER to golgi regulator | Nogle gange (5–29 %) | I 1 tilstand |
| THAP11THAP domain containing 11 | Nogle gange (5–29 %) | I 1 tilstand |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Nogle gange (5–29 %) | I 2 tilstande |
| TP63tumor protein p63 | Nogle gange (5–29 %) | I 1 tilstand |
| TPP1tripeptidyl peptidase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TRA2Btransformer 2 beta homolog | Nogle gange (5–29 %) | I 1 tilstand |
| TRAPPC6Btrafficking protein particle complex subunit 6B | Nogle gange (5–29 %) | I 1 tilstand |
| TRMT2BtRNA methyltransferase 2B | Nogle gange (5–29 %) | I 1 tilstand |
| TTC19tetratricopeptide repeat domain 19 | Nogle gange (5–29 %) | I 1 tilstand |
| TUBA4Atubulin alpha 4a | Nogle gange (5–29 %) | I 1 tilstand |
| TUBB4Atubulin beta 4A class IVa | Nogle gange (5–29 %) | I 2 tilstande |
| TUBB6tubulin beta 6 class V | Nogle gange (5–29 %) | I 1 tilstand |
| TYMSthymidylate synthetase | Nogle gange (5–29 %) | I 1 tilstand |
| UBE3Aubiquitin protein ligase E3A | Nogle gange (5–29 %) | I 3 tilstande |
| UCHL1ubiquitin C-terminal hydrolase L1 | Nogle gange (5–29 %) | I 1 tilstand |
| WACWW domain containing adaptor with coiled-coil | Nogle gange (5–29 %) | I 1 tilstand |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Nogle gange (5–29 %) | I 2 tilstande |
| WSB2WD repeat and SOCS box containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| XPO1exportin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| XPR1xenotropic and polytropic retrovirus receptor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ZFXzinc finger protein X-linked | Nogle gange (5–29 %) | I 1 tilstand |
| ZMYM2zinc finger MYM-type containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Sjældent (1–4%) | I 1 tilstand |
| CLCN1chloride voltage-gated channel 1 | Sjældent (1–4%) | I 2 tilstande |
| CYP7B1cytochrome P450 family 7 subfamily B member 1 | Sjældent (1–4%) | I 1 tilstand |
| DNM1Ldynamin 1L | Sjældent (1–4%) | I 1 tilstand |
| DYSFdysferlin | Sjældent (1–4%) | I 1 tilstand |
| EXT1exostosin glycosyltransferase 1 | Sjældent (1–4%) | I 1 tilstand |
| EXT2exostosin glycosyltransferase 2 | Sjældent (1–4%) | I 1 tilstand |
| FA2Hfatty acid 2-hydroxylase | Sjældent (1–4%) | I 1 tilstand |
| FGF10fibroblast growth factor 10 | Sjældent (1–4%) | I 1 tilstand |
| FGFR2fibroblast growth factor receptor 2 | Sjældent (1–4%) | I 1 tilstand |
| FGFR3fibroblast growth factor receptor 3 | Sjældent (1–4%) | I 1 tilstand |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Sjældent (1–4%) | I 1 tilstand |
| PPIBpeptidylprolyl isomerase B | Sjældent (1–4%) | I 1 tilstand |
| PYGMglycogen phosphorylase, muscle associated | Sjældent (1–4%) | I 1 tilstand |
| RNU4-2RNA, U4 small nuclear 2 | Sjældent (1–4%) | I 1 tilstand |
| SETBP1SET binding protein 1 | Sjældent (1–4%) | I 1 tilstand |
| ZEB2zinc finger E-box binding homeobox 2 | Sjældent (1–4%) | I 2 tilstande |
| ACTG2actin gamma 2, smooth muscle | Ikke registreret | I 1 tilstand |
| ADH1Calcohol dehydrogenase 1C (class I), gamma polypeptide | Ikke registreret | I 1 tilstand |
| APOEapolipoprotein E | Ikke registreret | I 1 tilstand |
| ARandrogen receptor | Ikke registreret | I 1 tilstand |
| ATP7BATPase copper transporting beta | Ikke registreret | I 1 tilstand |
| ATXN10ataxin 10 | Ikke registreret | I 1 tilstand |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Ikke registreret | I 1 tilstand |
| CAVIN1caveolae associated protein 1 | Ikke registreret | I 1 tilstand |
| CHATcholine O-acetyltransferase | Ikke registreret | I 1 tilstand |
| CHMP1Acharged multivesicular body protein 1A | Ikke registreret | I 1 tilstand |
| CHRNA1cholinergic receptor nicotinic alpha 1 subunit | Ikke registreret | I 2 tilstande |
| CHRNEcholinergic receptor nicotinic epsilon subunit | Ikke registreret | I 2 tilstande |
| CTNScystinosin, lysosomal cystine transporter | Ikke registreret | I 1 tilstand |
| FLAD1flavin adenine dinucleotide synthetase 1 | Ikke registreret | I 1 tilstand |
| FLNCfilamin C | Ikke registreret | I 1 tilstand |
| GCH1GTP cyclohydrolase 1 | Ikke registreret | I 1 tilstand |
| GEMIN4gem nuclear organelle associated protein 4 | Ikke registreret | I 1 tilstand |
| GFPT1glutamine--fructose-6-phosphate transaminase 1 | Ikke registreret | I 1 tilstand |
| GJB1gap junction protein beta 1 | Ikke registreret | I 1 tilstand |
| HOXB1homeobox B1 | Ikke registreret | I 1 tilstand |
| HPRT1hypoxanthine phosphoribosyltransferase 1 | Ikke registreret | I 1 tilstand |
| HTThuntingtin | Ikke registreret | I 1 tilstand |
| KAT6Blysine acetyltransferase 6B | Ikke registreret | I 1 tilstand |
| LIFRLIF receptor subunit alpha | Ikke registreret | I 1 tilstand |
| MECP2methyl-CpG binding protein 2 | Ikke registreret | I 1 tilstand |
| MPZmyelin protein zero | Ikke registreret | I 1 tilstand |
| MT-TTmitochondrially encoded tRNA-Thr (ACN) | Ikke registreret | I 1 tilstand |
| MYH14myosin heavy chain 14 | Ikke registreret | I 1 tilstand |
| MYH8myosin heavy chain 8 | Ikke registreret | I 1 tilstand |
| MYO9Amyosin IXA | Ikke registreret | I 1 tilstand |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Ikke registreret | I 1 tilstand |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Ikke registreret | I 1 tilstand |
| NDUFS3NADH:ubiquinone oxidoreductase core subunit S3 | Ikke registreret | I 1 tilstand |
| NPC1NPC intracellular cholesterol transporter 1 | Ikke registreret | I 1 tilstand |
| NPC2NPC intracellular cholesterol transporter 2 | Ikke registreret | I 1 tilstand |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Ikke registreret | I 1 tilstand |
| PAX7paired box 7 | Ikke registreret | I 1 tilstand |
| PCNAproliferating cell nuclear antigen | Ikke registreret | I 1 tilstand |
| PDP1pyruvate dehydrogenase phosphatase catalytic subunit 1 | Ikke registreret | I 1 tilstand |
| PLAAphospholipase A2 activating protein | Ikke registreret | I 1 tilstand |
| PLIN4perilipin 4 | Ikke registreret | I 1 tilstand |
| PNKDPNKD metallo-beta-lactamase domain containing | Ikke registreret | I 1 tilstand |
| PRKCGprotein kinase C gamma | Ikke registreret | I 1 tilstand |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Ikke registreret | I 1 tilstand |
| PSAPprosaposin | Ikke registreret | I 1 tilstand |
| PSEN1presenilin 1 | Ikke registreret | I 1 tilstand |
| RLIMring finger protein, LIM domain interacting | Ikke registreret | I 1 tilstand |
| SLC12A2solute carrier family 12 member 2 | Ikke registreret | I 1 tilstand |
| SLC52A3solute carrier family 52 member 3 | Ikke registreret | I 2 tilstande |
| SLC6A9solute carrier family 6 member 9 | Ikke registreret | I 1 tilstand |
| SNCAIPsynuclein alpha interacting protein | Ikke registreret | I 1 tilstand |
| TBC1D23TBC1 domain family member 23 | Ikke registreret | I 1 tilstand |
| TBPTATA-box binding protein | Ikke registreret | I 2 tilstande |
| VAC14VAC14 component of PIKFYVE complex | Ikke registreret | I 1 tilstand |
| WFS1wolframin ER transmembrane glycoprotein | Ikke registreret | I 1 tilstand |
| ZC4H2zinc finger C4H2-type containing | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
Snævrere træk
Bredere træk
Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
Én test. Svar for hele livet.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger