Cecha
Poor swallowing
Nazwa kliniczna: Dysphagia
Difficulty in swallowing.
Podsumowanie
- Znana także jako
- Swallowing difficulties, Swallowing difficulty, Difficulty swallowing
Genom referencyjnyGRCh38hg38
Pozycje na stronach genów i wariantów zależą od tego wyboru, w tej przeglądarce.
Read the genes linked to Poor swallowing, and the rest of your genome, with one test.
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Zamawiam Genome Test569 genów powiązanych z Poor swallowing
Zmiany w tych genach powodują rzadkie choroby, w których występuje Poor swallowing. Większość osób z tą cechą nie ma żadnej z tych chorób, a gen z tej listy nic nie mówi o czyimkolwiek własnym genomie.
| Gen | Jak często występuje | Choroby |
|---|---|---|
| ACTBactin beta | Zawsze | W 2 chorobach |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Zawsze | W 2 chorobach |
| AHDC1AT-hook DNA binding motif containing 1 | Zawsze | W 1 chorobie |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Zawsze | W 5 chorobach |
| AMOTL1angiomotin like 1 | Zawsze | W 1 chorobie |
| APTXaprataxin | Zawsze | W 1 chorobie |
| ASCC1activating signal cointegrator 1 complex subunit 1 | Zawsze | W 1 chorobie |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Zawsze | W 1 chorobie |
| CCT3chaperonin containing TCP1 subunit 3 | Zawsze | W 1 chorobie |
| CHRNDcholinergic receptor nicotinic delta subunit | Zawsze | W 2 chorobach |
| CILK1ciliogenesis associated kinase 1 | Zawsze | W 1 chorobie |
| COQ2coenzyme Q2, polyprenyltransferase | Zawsze | W 1 chorobie |
| COX18cytochrome c oxidase assembly factor COX18 | Zawsze | W 1 chorobie |
| CSF1Rcolony stimulating factor 1 receptor | Zawsze | W 1 chorobie |
| CTSAcathepsin A | Zawsze | W 1 chorobie |
| DONSONDNA replication fork stabilization factor DONSON | Zawsze | W 1 chorobie |
| DSTdystonin | Zawsze | W 1 chorobie |
| EBF3EBF transcription factor 3 | Zawsze | W 1 chorobie |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Zawsze | W 1 chorobie |
| EIF4A2eukaryotic translation initiation factor 4A2 | Zawsze | W 1 chorobie |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Zawsze | W 1 chorobie |
| EXOSC5exosome component 5 | Zawsze | W 1 chorobie |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Zawsze | W 1 chorobie |
| FDXRferredoxin reductase | Zawsze | W 1 chorobie |
| GLB1galactosidase beta 1 | Zawsze | W 1 chorobie |
| GTPBP1GTP binding protein 1 | Zawsze | W 1 chorobie |
| GUK1guanylate kinase 1 | Zawsze | W 1 chorobie |
| HIVEP2HIVEP zinc finger 2 | Zawsze | W 1 chorobie |
| HNRNPA2B1heterogeneous nuclear ribonucleoprotein A2/B1 | Zawsze | W 1 chorobie |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Zawsze | W 1 chorobie |
| JPH1junctophilin 1 | Zawsze | W 1 chorobie |
| KCNK3potassium two pore domain channel subfamily K member 3 | Zawsze | W 1 chorobie |
| KDM6Blysine demethylase 6B | Zawsze | W 1 chorobie |
| KIF5Akinesin family member 5A | Zawsze | W 1 chorobie |
| KLHL7kelch like family member 7 | Zawsze | W 1 chorobie |
| MAPTmicrotubule associated protein tau | Zawsze | W 4 chorobach |
| MCCC1methylcrotonyl-CoA carboxylase subunit 1 | Zawsze | W 1 chorobie |
| MED16mediator complex subunit 16 | Zawsze | W 1 chorobie |
| MED17mediator complex subunit 17 | Zawsze | W 1 chorobie |
| MEGF10multiple EGF like domains 10 | Zawsze | W 2 chorobach |
Pokaż jeszcze 529 genów
| Gen | Jak często występuje | Choroby |
|---|---|---|
| MFFmitochondrial fission factor | Zawsze | W 2 chorobach |
| MINPP1multiple inositol-polyphosphate phosphatase 1 | Zawsze | W 1 chorobie |
| MRPS25mitochondrial ribosomal protein S25 | Zawsze | W 1 chorobie |
| MRPS28mitochondrial ribosomal protein S28 | Zawsze | W 1 chorobie |
| MSL2MSL complex subunit 2 | Zawsze | W 1 chorobie |
| MYH2myosin heavy chain 2 | Zawsze | W 1 chorobie |
| MYMKmyomaker, myoblast fusion factor | Zawsze | W 1 chorobie |
| MYO1Hmyosin IH | Zawsze | W 1 chorobie |
| NDC1NDC1 transmembrane nucleoporin | Zawsze | W 1 chorobie |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Zawsze | W 1 chorobie |
| NOTCH3notch receptor 3 | Zawsze | W 2 chorobach |
| NUP54nucleoporin 54 | Zawsze | W 2 chorobach |
| PI4KAphosphatidylinositol 4-kinase alpha | Zawsze | W 2 chorobach |
| POLGDNA polymerase gamma, catalytic subunit | Zawsze | W 8 chorobach |
| POLR1ARNA polymerase I subunit A | Zawsze | W 1 chorobie |
| RAB32RAB32, member RAS oncogene family | Zawsze | W 1 chorobie |
| RFC4replication factor C subunit 4 | Zawsze | W 1 chorobie |
| RNASEH1ribonuclease H1 | Zawsze | W 2 chorobach |
| RNU2-2RNA, U2 small nuclear 2 | Zawsze | W 1 chorobie |
| SETXsenataxin | Zawsze | W 2 chorobach |
| SLC19A3solute carrier family 19 member 3 | Zawsze | W 1 chorobie |
| SNF8SNF8 subunit of ESCRT-II | Zawsze | W 1 chorobie |
| SPARTspartin | Zawsze | W 2 chorobach |
| SPTBN4spectrin beta, non-erythrocytic 4 | Zawsze | W 1 chorobie |
| SYNJ1synaptojanin 1 | Zawsze | W 1 chorobie |
| TK2thymidine kinase 2 | Zawsze | W 2 chorobach |
| TMEM63Btransmembrane protein 63B | Zawsze | W 1 chorobie |
| TOP3ADNA topoisomerase III alpha | Zawsze | W 2 chorobach |
| TOR1Atorsin family 1 member A | Zawsze | W 1 chorobie |
| TRAPPC12trafficking protein particle complex subunit 12 | Zawsze | W 2 chorobach |
| TRIP4thyroid hormone receptor interactor 4 | Zawsze | W 1 chorobie |
| TSEN54tRNA splicing endonuclease subunit 54 | Zawsze | W 2 chorobach |
| UNC13Aunc-13 homolog A | Zawsze | W 2 chorobach |
| VPS11VPS11 core subunit of CORVET and HOPS complexes | Zawsze | W 1 chorobie |
| VPS13Avacuolar protein sorting 13 homolog A | Zawsze | W 2 chorobach |
| VRK1VRK serine/threonine kinase 1 | Zawsze | W 1 chorobie |
| XRCC1X-ray repair cross complementing 1 | Zawsze | W 1 chorobie |
| ACTA1actin alpha 1, skeletal muscle | Bardzo często (80–99%) | W 6 chorobach |
| AMPD2adenosine monophosphate deaminase 2 | Bardzo często (80–99%) | W 1 chorobie |
| APPamyloid beta precursor protein | Bardzo często (80–99%) | W 1 chorobie |
| ATXN7ataxin 7 | Bardzo często (80–99%) | W 2 chorobach |
| COL4A5collagen type IV alpha 5 chain | Bardzo często (80–99%) | W 1 chorobie |
| COL4A6collagen type IV alpha 6 chain | Bardzo często (80–99%) | W 1 chorobie |
| COQ4coenzyme Q4 | Bardzo często (80–99%) | W 1 chorobie |
| CRLF1cytokine receptor like factor 1 | Bardzo często (80–99%) | W 1 chorobie |
| CRYABcrystallin alpha B | Bardzo często (80–99%) | W 1 chorobie |
| FTH1ferritin heavy chain 1 | Bardzo często (80–99%) | W 1 chorobie |
| GBA1glucosylceramidase beta 1 | Bardzo często (80–99%) | W 5 chorobach |
| GTPBP2GTP binding protein 2 | Bardzo często (80–99%) | W 1 chorobie |
| HLA-DQA1major histocompatibility complex, class II, DQ alpha 1 | Bardzo często (80–99%) | W 1 chorobie |
| HLA-DQB1major histocompatibility complex, class II, DQ beta 1 | Bardzo często (80–99%) | W 1 chorobie |
| KLHL40kelch like family member 40 | Bardzo często (80–99%) | W 2 chorobach |
| LIG3DNA ligase 3 | Bardzo często (80–99%) | W 2 chorobach |
| LMX1BLIM homeobox transcription factor 1 beta | Bardzo często (80–99%) | W 1 chorobie |
| MID1midline 1 | Bardzo często (80–99%) | W 2 chorobach |
| NOS1nitric oxide synthase 1 | Bardzo często (80–99%) | W 1 chorobie |
| PABPN1poly(A) binding protein nuclear 1 | Bardzo często (80–99%) | W 2 chorobach |
| PRDX3peroxiredoxin 3 | Bardzo często (80–99%) | W 1 chorobie |
| QDPRquinoid dihydropteridine reductase | Bardzo często (80–99%) | W 2 chorobach |
| RILPL1Rab interacting lysosomal protein like 1 | Bardzo często (80–99%) | W 1 chorobie |
| RRM1ribonucleotide reductase catalytic subunit M1 | Bardzo często (80–99%) | W 2 chorobach |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Bardzo często (80–99%) | W 5 chorobach |
| SLC44A1solute carrier family 44 member 1 | Bardzo często (80–99%) | W 1 chorobie |
| SLC5A7solute carrier family 5 member 7 | Bardzo często (80–99%) | W 1 chorobie |
| STXBP1syntaxin binding protein 1 | Bardzo często (80–99%) | W 1 chorobie |
| TTBK2tau tubulin kinase 2 | Bardzo często (80–99%) | W 1 chorobie |
| TYMPthymidine phosphorylase | Bardzo często (80–99%) | W 2 chorobach |
| UBTFupstream binding transcription factor | Bardzo często (80–99%) | W 2 chorobach |
| ABCD3ATP binding cassette subfamily D member 3 | Często (30–79%) | W 1 chorobie |
| ACOX1acyl-CoA oxidase 1 | Często (30–79%) | W 2 chorobach |
| ADARadenosine deaminase RNA specific | Często (30–79%) | W 1 chorobie |
| ADD3adducin 3 | Często (30–79%) | W 1 chorobie |
| ANGangiogenin | Często (30–79%) | W 1 chorobie |
| ANXA11annexin A11 | Często (30–79%) | W 2 chorobach |
| ARXaristaless related homeobox | Często (30–79%) | W 2 chorobach |
| ATN1atrophin 1 | Często (30–79%) | W 1 chorobie |
| ATP13A2ATPase cation transporting 13A2 | Często (30–79%) | W 3 chorobach |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Często (30–79%) | W 1 chorobie |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Często (30–79%) | W 5 chorobach |
| ATP2B3ATPase plasma membrane Ca2+ transporting 3 | Często (30–79%) | W 1 chorobie |
| ATP5F1AATP synthase F1 subunit alpha | Często (30–79%) | W 1 chorobie |
| ATP7AATPase copper transporting alpha | Często (30–79%) | W 1 chorobie |
| ATXN1ataxin 1 | Często (30–79%) | W 2 chorobach |
| ATXN2ataxin 2 | Często (30–79%) | W 3 chorobach |
| BORCS8BLOC-1 related complex subunit 8 | Często (30–79%) | W 1 chorobie |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Często (30–79%) | W 3 chorobach |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Często (30–79%) | W 1 chorobie |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Często (30–79%) | W 2 chorobach |
| CADcarbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase | Często (30–79%) | W 1 chorobie |
| CAPRIN1cell cycle associated protein 1 | Często (30–79%) | W 1 chorobie |
| CARMIL2capping protein regulator and myosin 1 linker 2 | Często (30–79%) | W 1 chorobie |
| CASKcalcium/calmodulin dependent serine protein kinase | Często (30–79%) | W 1 chorobie |
| CASZ1castor zinc finger 1 | Często (30–79%) | W 1 chorobie |
| CAV1caveolin 1 | Często (30–79%) | W 3 chorobach |
| CCN2cellular communication network factor 2 | Często (30–79%) | W 2 chorobach |
| CCNFcyclin F | Często (30–79%) | W 1 chorobie |
| CCR6C-C motif chemokine receptor 6 | Często (30–79%) | W 2 chorobach |
| CDC73cell division cycle 73 | Często (30–79%) | W 2 chorobach |
| CDKL5cyclin dependent kinase like 5 | Często (30–79%) | W 1 chorobie |
| CDONcell adhesion associated, oncogene regulated | Często (30–79%) | W 5 chorobach |
| CEP85Lcentrosomal protein 85L | Często (30–79%) | W 1 chorobie |
| CFAP410cilia and flagella associated protein 410 | Często (30–79%) | W 1 chorobie |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Często (30–79%) | W 4 chorobach |
| CHD7chromodomain helicase DNA binding protein 7 | Często (30–79%) | W 2 chorobach |
| CHMP2Bcharged multivesicular body protein 2B | Często (30–79%) | W 1 chorobie |
| CNBPCCHC-type zinc finger nucleic acid binding protein | Często (30–79%) | W 1 chorobie |
| COL13A1collagen type XIII alpha 1 chain | Często (30–79%) | W 1 chorobie |
| COL7A1collagen type VII alpha 1 chain | Często (30–79%) | W 3 chorobach |
| COLQcollagen like tail subunit of asymmetric acetylcholinesterase | Często (30–79%) | W 2 chorobach |
| CRIPTOcripto, EGF-CFC family member | Często (30–79%) | W 5 chorobach |
| CRNKL1crooked neck pre-mRNA splicing factor 1 | Często (30–79%) | W 1 chorobie |
| DAOD-amino acid oxidase | Często (30–79%) | W 1 chorobie |
| DCTN1dynactin subunit 1 | Często (30–79%) | W 2 chorobach |
| DDHD2DDHD domain containing 2 | Często (30–79%) | W 2 chorobach |
| DGUOKdeoxyguanosine kinase | Często (30–79%) | W 2 chorobach |
| DISP1dispatched RND transporter family member 1 | Często (30–79%) | W 5 chorobach |
| DKK1dickkopf Wnt signaling pathway inhibitor 1 | Często (30–79%) | W 1 chorobie |
| DLL1delta like canonical Notch ligand 1 | Często (30–79%) | W 5 chorobach |
| DMXL2Dmx like 2 | Często (30–79%) | W 1 chorobie |
| DNAJB6DnaJ heat shock protein family (Hsp40) member B6 | Często (30–79%) | W 2 chorobach |
| DNAJC13DnaJ heat shock protein family (Hsp40) member C13 | Często (30–79%) | W 1 chorobie |
| DPYSL5dihydropyrimidinase like 5 | Często (30–79%) | W 1 chorobie |
| DTYMKdeoxythymidylate kinase | Często (30–79%) | W 1 chorobie |
| ECM1extracellular matrix protein 1 | Często (30–79%) | W 1 chorobie |
| EIF4G1eukaryotic translation initiation factor 4 gamma 1 | Często (30–79%) | W 1 chorobie |
| EPRS1glutamyl-prolyl-tRNA synthetase 1 | Często (30–79%) | W 1 chorobie |
| ERBB4erb-b2 receptor tyrosine kinase 4 | Często (30–79%) | W 1 chorobie |
| ERLIN2ER lipid raft associated 2 | Często (30–79%) | W 3 chorobach |
| FBXL4F-box and leucine rich repeat protein 4 | Często (30–79%) | W 1 chorobie |
| FBXO28F-box protein 28 | Często (30–79%) | W 1 chorobie |
| FBXO7F-box protein 7 | Często (30–79%) | W 1 chorobie |
| FERMT1FERM domain containing kindlin 1 | Często (30–79%) | W 2 chorobach |
| FGF8fibroblast growth factor 8 | Często (30–79%) | W 5 chorobach |
| FGFR1fibroblast growth factor receptor 1 | Często (30–79%) | W 2 chorobach |
| FIG4FIG4 phosphoinositide 5-phosphatase | Często (30–79%) | W 1 chorobie |
| FOXH1forkhead box H1 | Często (30–79%) | W 5 chorobach |
| FTLferritin light chain | Często (30–79%) | W 2 chorobach |
| FUSFUS RNA binding protein | Często (30–79%) | W 3 chorobach |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Często (30–79%) | W 1 chorobie |
| GAS1growth arrest specific 1 | Często (30–79%) | W 5 chorobach |
| GBA2glucosylceramidase beta 2 | Często (30–79%) | W 1 chorobie |
| GCDHglutaryl-CoA dehydrogenase | Często (30–79%) | W 1 chorobie |
| GDAP2ganglioside induced differentiation associated protein 2 | Często (30–79%) | W 1 chorobie |
| GFAPglial fibrillary acidic protein | Często (30–79%) | W 2 chorobach |
| GIGYF2GRB10 interacting GYF protein 2 | Często (30–79%) | W 1 chorobie |
| GLE1GLE1 RNA export mediator | Często (30–79%) | W 1 chorobie |
| GLI2GLI family zinc finger 2 | Często (30–79%) | W 5 chorobach |
| GLT8D1glycosyltransferase 8 domain containing 1 | Często (30–79%) | W 1 chorobie |
| GNAO1G protein subunit alpha o1 | Często (30–79%) | W 2 chorobach |
| GNSglucosamine (N-acetyl)-6-sulfatase | Często (30–79%) | W 1 chorobie |
| GOSR2golgi SNAP receptor complex member 2 | Często (30–79%) | W 1 chorobie |
| GPRC5BG protein-coupled receptor class C group 5 member B | Często (30–79%) | W 1 chorobie |
| GRHL2grainyhead like transcription factor 2 | Często (30–79%) | W 1 chorobie |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Często (30–79%) | W 1 chorobie |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Często (30–79%) | W 1 chorobie |
| GRM7glutamate metabotropic receptor 7 | Często (30–79%) | W 2 chorobach |
| GSNgelsolin | Często (30–79%) | W 1 chorobie |
| HACD13-hydroxyacyl-CoA dehydratase 1 | Często (30–79%) | W 1 chorobie |
| HEPACAMhepatic and glial cell adhesion molecule | Często (30–79%) | W 1 chorobie |
| HEXBhexosaminidase subunit beta | Często (30–79%) | W 2 chorobach |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Często (30–79%) | W 1 chorobie |
| HLA-Bmajor histocompatibility complex, class I, B | Często (30–79%) | W 1 chorobie |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Często (30–79%) | W 2 chorobach |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Często (30–79%) | W 1 chorobie |
| HPCAhippocalcin | Często (30–79%) | W 1 chorobie |
| HSPG2heparan sulfate proteoglycan 2 | Często (30–79%) | W 1 chorobie |
| IKZF1IKAROS family zinc finger 1 | Często (30–79%) | W 1 chorobie |
| IL6STinterleukin 6 cytokine family signal transducer | Często (30–79%) | W 1 chorobie |
| IRF2BPLinterferon regulatory factor 2 binding protein like | Często (30–79%) | W 1 chorobie |
| IRF5interferon regulatory factor 5 | Często (30–79%) | W 2 chorobach |
| ITGA7integrin subunit alpha 7 | Często (30–79%) | W 1 chorobie |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Często (30–79%) | W 2 chorobach |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Często (30–79%) | W 1 chorobie |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Często (30–79%) | W 1 chorobie |
| KCND3potassium voltage-gated channel subfamily D member 3 | Często (30–79%) | W 1 chorobie |
| KCNK9potassium two pore domain channel subfamily K member 9 | Często (30–79%) | W 2 chorobach |
| KIAA0319LKIAA0319 like | Często (30–79%) | W 1 chorobie |
| KITKIT proto-oncogene, receptor tyrosine kinase | Często (30–79%) | W 2 chorobach |
| KLHL41kelch like family member 41 | Często (30–79%) | W 2 chorobach |
| KMT2Alysine methyltransferase 2A | Często (30–79%) | W 1 chorobie |
| KMT2Blysine methyltransferase 2B | Często (30–79%) | W 1 chorobie |
| KYkyphoscoliosis peptidase | Często (30–79%) | W 2 chorobach |
| LAMB2laminin subunit beta 2 | Często (30–79%) | W 1 chorobie |
| LBRlamin B receptor | Często (30–79%) | W 1 chorobie |
| LGI1leucine rich glioma inactivated 1 | Często (30–79%) | W 1 chorobie |
| LMOD3leiomodin 3 | Często (30–79%) | W 1 chorobie |
| LRP12LDL receptor related protein 12 | Często (30–79%) | W 3 chorobach |
| LRRK2leucine rich repeat kinase 2 | Często (30–79%) | W 1 chorobie |
| LUZP1leucine zipper protein 1 | Często (30–79%) | W 1 chorobie |
| MACF1microtubule actin crosslinking factor 1 | Często (30–79%) | W 2 chorobach |
| MAP2K2mitogen-activated protein kinase kinase 2 | Często (30–79%) | W 1 chorobie |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Często (30–79%) | W 1 chorobie |
| MATR3matrin 3 | Często (30–79%) | W 3 chorobach |
| MBmyoglobin | Często (30–79%) | W 1 chorobie |
| MGME1mitochondrial genome maintenance exonuclease 1 | Często (30–79%) | W 1 chorobie |
| MMP23Bmatrix metallopeptidase 23B | Często (30–79%) | W 1 chorobie |
| MRPS34mitochondrial ribosomal protein S34 | Często (30–79%) | W 1 chorobie |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Często (30–79%) | W 2 chorobach |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Często (30–79%) | W 1 chorobie |
| MTHFSmethenyltetrahydrofolate synthetase | Często (30–79%) | W 1 chorobie |
| MTRFRmitochondrial translation release factor in rescue | Często (30–79%) | W 1 chorobie |
| MUSKmuscle associated receptor tyrosine kinase | Często (30–79%) | W 2 chorobach |
| MYH11myosin heavy chain 11 | Często (30–79%) | W 1 chorobie |
| MYL2myosin light chain 2 | Często (30–79%) | W 1 chorobie |
| NAXENAD(P)HX epimerase | Często (30–79%) | W 1 chorobie |
| NCAPG2non-SMC condensin II complex subunit G2 | Często (30–79%) | W 1 chorobie |
| NEBnebulin | Często (30–79%) | W 3 chorobach |
| NEFHneurofilament heavy chain | Często (30–79%) | W 2 chorobach |
| NEK1NIMA related kinase 1 | Często (30–79%) | W 2 chorobach |
| NEUROD2neuronal differentiation 2 | Często (30–79%) | W 2 chorobach |
| NF1neurofibromin 1 | Często (30–79%) | W 1 chorobie |
| NODALnodal growth differentiation factor | Często (30–79%) | W 5 chorobach |
| NOP56NOP56 ribonucleoprotein | Często (30–79%) | W 2 chorobach |
| NOTCH2NLCnotch 2 N-terminal like C | Często (30–79%) | W 1 chorobie |
| NSRP1nuclear speckle splicing regulatory protein 1 | Często (30–79%) | W 1 chorobie |
| NUP62nucleoporin 62 | Często (30–79%) | W 2 chorobach |
| NUTM2B-AS1NUTM2B antisense RNA 1 | Często (30–79%) | W 1 chorobie |
| OPA1OPA1 mitochondrial dynamin like GTPase | Często (30–79%) | W 3 chorobach |
| OPTNoptineurin | Często (30–79%) | W 2 chorobach |
| PANK2pantothenate kinase 2 | Często (30–79%) | W 3 chorobach |
| PDE8Bphosphodiesterase 8B | Często (30–79%) | W 1 chorobie |
| PDGFRAplatelet derived growth factor receptor alpha | Często (30–79%) | W 1 chorobie |
| PDPNpodoplanin | Często (30–79%) | W 1 chorobie |
| PEX1peroxisomal biogenesis factor 1 | Często (30–79%) | W 1 chorobie |
| PFN1profilin 1 | Często (30–79%) | W 2 chorobach |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Często (30–79%) | W 1 chorobie |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Często (30–79%) | W 1 chorobie |
| PLA2G6phospholipase A2 group VI | Często (30–79%) | W 2 chorobach |
| PLCH1phospholipase C eta 1 | Często (30–79%) | W 1 chorobie |
| PLP1proteolipid protein 1 | Często (30–79%) | W 1 chorobie |
| PLXND1plexin D1 | Często (30–79%) | W 1 chorobie |
| PNKPpolynucleotide kinase 3'-phosphatase | Często (30–79%) | W 1 chorobie |
| POLR3ARNA polymerase III subunit A | Często (30–79%) | W 3 chorobach |
| POLR3BRNA polymerase III subunit B | Często (30–79%) | W 2 chorobach |
| PRDM13PR/SET domain 13 | Często (30–79%) | W 1 chorobie |
| PRDM16PR/SET domain 16 | Często (30–79%) | W 1 chorobie |
| PRKCZprotein kinase C zeta | Często (30–79%) | W 1 chorobie |
| PRKRAprotein activator of interferon induced protein kinase EIF2AK2 | Często (30–79%) | W 2 chorobach |
| PRNPprion protein (Kanno blood group) | Często (30–79%) | W 2 chorobach |
| PRPHperipherin | Często (30–79%) | W 2 chorobach |
| PTCH1patched 1 | Często (30–79%) | W 5 chorobach |
| PTRHD1peptidyl-tRNA hydrolase domain containing 1 | Często (30–79%) | W 1 chorobie |
| PYROXD1pyridine nucleotide-disulphide oxidoreductase domain 1 | Często (30–79%) | W 1 chorobie |
| RAB3ARAB3A, member RAS oncogene family | Często (30–79%) | W 1 chorobie |
| REPS1RALBP1 associated Eps domain containing 1 | Często (30–79%) | W 1 chorobie |
| REREarginine-glutamic acid dipeptide repeats | Często (30–79%) | W 2 chorobach |
| REV3LREV3 like, DNA directed polymerase zeta catalytic subunit | Często (30–79%) | W 1 chorobie |
| RHBDF2rhomboid 5 homolog 2 | Często (30–79%) | W 1 chorobie |
| RHOBTB2Rho related BTB domain containing 2 | Często (30–79%) | W 2 chorobach |
| SATB1SATB homeobox 1 | Często (30–79%) | W 1 chorobie |
| SCARB2scavenger receptor class B member 2 | Często (30–79%) | W 1 chorobie |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Często (30–79%) | W 1 chorobie |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Często (30–79%) | W 2 chorobach |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Często (30–79%) | W 3 chorobach |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Często (30–79%) | W 2 chorobach |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Często (30–79%) | W 3 chorobach |
| SDHCsuccinate dehydrogenase complex subunit C | Często (30–79%) | W 3 chorobach |
| SDHDsuccinate dehydrogenase complex subunit D | Często (30–79%) | W 1 chorobie |
| SELENONselenoprotein N | Często (30–79%) | W 1 chorobie |
| SEMA3Esemaphorin 3E | Często (30–79%) | W 1 chorobie |
| SERPING1serpin family G member 1 | Często (30–79%) | W 1 chorobie |
| SHHsonic hedgehog signaling molecule | Często (30–79%) | W 5 chorobach |
| SIK1salt inducible kinase 1 | Często (30–79%) | W 1 chorobie |
| SIX3SIX homeobox 3 | Często (30–79%) | W 5 chorobach |
| SKISKI proto-oncogene | Często (30–79%) | W 1 chorobie |
| SLC1A3solute carrier family 1 member 3 | Często (30–79%) | W 1 chorobie |
| SLC1A4solute carrier family 1 member 4 | Często (30–79%) | W 1 chorobie |
| SLC25A22solute carrier family 25 member 22 | Często (30–79%) | W 1 chorobie |
| SLC2A1solute carrier family 2 member 1 | Często (30–79%) | W 1 chorobie |
| SLC32A1solute carrier family 32 member 1 | Często (30–79%) | W 1 chorobie |
| SLC9A6solute carrier family 9 member A6 | Często (30–79%) | W 3 chorobach |
| SMC1Astructural maintenance of chromosomes 1A | Często (30–79%) | W 1 chorobie |
| SNCAsynuclein alpha | Często (30–79%) | W 3 chorobach |
| SOD1superoxide dismutase 1 | Często (30–79%) | W 2 chorobach |
| SPENspen family transcriptional repressor | Często (30–79%) | W 2 chorobach |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Często (30–79%) | W 3 chorobach |
| SPG21SPG21 abhydrolase domain containing, maspardin | Często (30–79%) | W 2 chorobach |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Często (30–79%) | W 3 chorobach |
| SPTSSAserine palmitoyltransferase small subunit A | Często (30–79%) | W 1 chorobie |
| SQSTM1sequestosome 1 | Często (30–79%) | W 3 chorobach |
| STAG2STAG2 cohesin complex component | Często (30–79%) | W 2 chorobach |
| STAT3signal transducer and activator of transcription 3 | Często (30–79%) | W 1 chorobie |
| STILSTIL centriolar assembly protein | Często (30–79%) | W 5 chorobach |
| STUB1STIP1 homology and U-box containing protein 1 | Często (30–79%) | W 2 chorobach |
| SYT14synaptotagmin 14 | Często (30–79%) | W 2 chorobach |
| TAF15TATA-box binding protein associated factor 15 | Często (30–79%) | W 1 chorobie |
| TAMM41TAM41 mitochondrial translocator assembly and maintenance homolog | Często (30–79%) | W 1 chorobie |
| TARDBPTAR DNA binding protein | Często (30–79%) | W 4 chorobach |
| TBK1TANK binding kinase 1 | Często (30–79%) | W 3 chorobach |
| TGIF1TGFB induced factor homeobox 1 | Często (30–79%) | W 5 chorobach |
| TNNT1troponin T1, slow skeletal type | Często (30–79%) | W 1 chorobie |
| TNPO3transportin 3 | Często (30–79%) | W 1 chorobie |
| TPM2tropomyosin 2 | Często (30–79%) | W 2 chorobach |
| TPM3tropomyosin 3 | Często (30–79%) | W 4 chorobach |
| TREM2triggering receptor expressed on myeloid cells 2 | Często (30–79%) | W 1 chorobie |
| TRIM8tripartite motif containing 8 | Często (30–79%) | W 1 chorobie |
| TRIOtrio Rho guanine nucleotide exchange factor | Często (30–79%) | W 1 chorobie |
| TSEN2tRNA splicing endonuclease subunit 2 | Często (30–79%) | W 1 chorobie |
| TWNKtwinkle mtDNA helicase | Często (30–79%) | W 4 chorobach |
| UBE4Bubiquitination factor E4B | Często (30–79%) | W 1 chorobie |
| UBQLN2ubiquilin 2 | Często (30–79%) | W 3 chorobach |
| UNC45Bunc-45 myosin chaperone B | Często (30–79%) | W 1 chorobie |
| VAMP1vesicle associated membrane protein 1 | Często (30–79%) | W 3 chorobach |
| VAPBVAMP associated protein B and C | Często (30–79%) | W 2 chorobach |
| VARS1valyl-tRNA synthetase 1 | Często (30–79%) | W 1 chorobie |
| VCPvalosin containing protein | Często (30–79%) | W 3 chorobach |
| VPS13Cvacuolar protein sorting 13 homolog C | Często (30–79%) | W 1 chorobie |
| VPS35VPS35 retromer complex component | Często (30–79%) | W 1 chorobie |
| WASHC5WASH complex subunit 5 | Często (30–79%) | W 1 chorobie |
| YARS2tyrosyl-tRNA synthetase 2 | Często (30–79%) | W 1 chorobie |
| ZIC2Zic family zinc finger 2 | Często (30–79%) | W 5 chorobach |
| AASSaminoadipate-semialdehyde synthase | Czasami (5–29%) | W 1 chorobie |
| ABCD1ATP binding cassette subfamily D member 1 | Czasami (5–29%) | W 1 chorobie |
| ADGRG1adhesion G protein-coupled receptor G1 | Czasami (5–29%) | W 1 chorobie |
| ADNPactivity dependent neuroprotector homeobox | Czasami (5–29%) | W 1 chorobie |
| ALDH4A1aldehyde dehydrogenase 4 family member A1 | Czasami (5–29%) | W 1 chorobie |
| ANKRD11ankyrin repeat domain 11 | Czasami (5–29%) | W 1 chorobie |
| AOPEPaminopeptidase O (putative) | Czasami (5–29%) | W 1 chorobie |
| ASAH1N-acylsphingosine amidohydrolase 1 | Czasami (5–29%) | W 2 chorobach |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Czasami (5–29%) | W 1 chorobie |
| ATG7autophagy related 7 | Czasami (5–29%) | W 1 chorobie |
| ATXN3ataxin 3 | Czasami (5–29%) | W 5 chorobach |
| ATXN8ataxin 8 | Czasami (5–29%) | W 2 chorobach |
| ATXN8OSATXN8 opposite strand lncRNA | Czasami (5–29%) | W 3 chorobach |
| BAP1BRCA1 associated deubiquitinase 1 | Czasami (5–29%) | W 1 chorobie |
| BCL11ABCL11 transcription factor A | Czasami (5–29%) | W 1 chorobie |
| CARS2cysteinyl-tRNA synthetase 2, mitochondrial | Czasami (5–29%) | W 1 chorobie |
| CLN8CLN8 transmembrane ER and ERGIC protein | Czasami (5–29%) | W 1 chorobie |
| CMPK2cytidine/uridine monophosphate kinase 2 | Czasami (5–29%) | W 1 chorobie |
| CSPP1centrosome and spindle pole associated protein 1 | Czasami (5–29%) | W 1 chorobie |
| CTNNB1catenin beta 1 | Czasami (5–29%) | W 1 chorobie |
| DAB1DAB adaptor protein 1 | Czasami (5–29%) | W 1 chorobie |
| DCXdoublecortin | Czasami (5–29%) | W 1 chorobie |
| DDCdopa decarboxylase | Czasami (5–29%) | W 1 chorobie |
| DESdesmin | Czasami (5–29%) | W 1 chorobie |
| DMPKDM1 protein kinase | Czasami (5–29%) | W 2 chorobach |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Czasami (5–29%) | W 1 chorobie |
| EIF5Aeukaryotic translation initiation factor 5A | Czasami (5–29%) | W 1 chorobie |
| EPG5ectopic P-granules 5 autophagy tethering factor | Czasami (5–29%) | W 1 chorobie |
| ERLIN1ER lipid raft associated 1 | Czasami (5–29%) | W 1 chorobie |
| FKRPfukutin related protein | Czasami (5–29%) | W 1 chorobie |
| FMR1fragile X messenger ribonucleoprotein 1 | Czasami (5–29%) | W 1 chorobie |
| FOXP2forkhead box P2 | Czasami (5–29%) | W 1 chorobie |
| FRG1FSHD region gene 1 | Czasami (5–29%) | W 1 chorobie |
| FXNfrataxin | Czasami (5–29%) | W 1 chorobie |
| GMPPAGDP-mannose pyrophosphorylase A | Czasami (5–29%) | W 1 chorobie |
| GNAQG protein subunit alpha q | Czasami (5–29%) | W 1 chorobie |
| GNB1G protein subunit beta 1 | Czasami (5–29%) | W 1 chorobie |
| GNB2G protein subunit beta 2 | Czasami (5–29%) | W 1 chorobie |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Czasami (5–29%) | W 1 chorobie |
| GRM1glutamate metabotropic receptor 1 | Czasami (5–29%) | W 1 chorobie |
| GUCY1A1guanylate cyclase 1 soluble subunit alpha 1 | Czasami (5–29%) | W 1 chorobie |
| HPDL4-hydroxyphenylpyruvate dioxygenase like | Czasami (5–29%) | W 1 chorobie |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Czasami (5–29%) | W 1 chorobie |
| HTRA2HtrA serine peptidase 2 | Czasami (5–29%) | W 1 chorobie |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Czasami (5–29%) | W 1 chorobie |
| IDH1isocitrate dehydrogenase (NADP(+)) 1 | Czasami (5–29%) | W 1 chorobie |
| IDH2isocitrate dehydrogenase (NADP(+)) 2 | Czasami (5–29%) | W 1 chorobie |
| IPO8importin 8 | Czasami (5–29%) | W 1 chorobie |
| IRF6interferon regulatory factor 6 | Czasami (5–29%) | W 1 chorobie |
| JAG1jagged canonical Notch ligand 1 | Czasami (5–29%) | W 1 chorobie |
| JAM2junctional adhesion molecule 2 | Czasami (5–29%) | W 1 chorobie |
| KAT6Alysine acetyltransferase 6A | Czasami (5–29%) | W 1 chorobie |
| KATNB1katanin regulatory subunit B1 | Czasami (5–29%) | W 1 chorobie |
| KCNC3potassium voltage-gated channel subfamily C member 3 | Czasami (5–29%) | W 1 chorobie |
| LAMA2laminin subunit alpha 2 | Czasami (5–29%) | W 1 chorobie |
| LMNB1lamin B1 | Czasami (5–29%) | W 1 chorobie |
| LONP1lon peptidase 1, mitochondrial | Czasami (5–29%) | W 1 chorobie |
| LRPPRCleucine rich pentatricopeptide repeat containing | Czasami (5–29%) | W 2 chorobach |
| MADDMAP kinase activating death domain | Czasami (5–29%) | W 1 chorobie |
| MAN2C1mannosidase alpha class 2C member 1 | Czasami (5–29%) | W 1 chorobie |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Czasami (5–29%) | W 2 chorobach |
| MMP1matrix metallopeptidase 1 | Czasami (5–29%) | W 1 chorobie |
| MSX1msh homeobox 1 | Czasami (5–29%) | W 1 chorobie |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Czasami (5–29%) | W 1 chorobie |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Czasami (5–29%) | W 1 chorobie |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Czasami (5–29%) | W 1 chorobie |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Czasami (5–29%) | W 1 chorobie |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Czasami (5–29%) | W 1 chorobie |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Czasami (5–29%) | W 1 chorobie |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Czasami (5–29%) | W 1 chorobie |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Czasami (5–29%) | W 1 chorobie |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Czasami (5–29%) | W 2 chorobach |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Czasami (5–29%) | W 1 chorobie |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Czasami (5–29%) | W 1 chorobie |
| MYORGmyogenesis regulating glycosidase | Czasami (5–29%) | W 2 chorobach |
| MYOTmyotilin | Czasami (5–29%) | W 1 chorobie |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Czasami (5–29%) | W 1 chorobie |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Czasami (5–29%) | W 2 chorobach |
| NDE1nudE neurodevelopment protein 1 | Czasami (5–29%) | W 1 chorobie |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Czasami (5–29%) | W 1 chorobie |
| NECTIN1nectin cell adhesion molecule 1 | Czasami (5–29%) | W 1 chorobie |
| NEFLneurofilament light chain | Czasami (5–29%) | W 1 chorobie |
| NEU1neuraminidase 1 | Czasami (5–29%) | W 1 chorobie |
| NF2NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | Czasami (5–29%) | W 1 chorobie |
| NKX2-5NK2 homeobox 5 | Czasami (5–29%) | W 1 chorobie |
| NTRK1neurotrophic receptor tyrosine kinase 1 | Czasami (5–29%) | W 1 chorobie |
| OCA2OCA2 melanosomal transmembrane protein | Czasami (5–29%) | W 1 chorobie |
| PAX8paired box 8 | Czasami (5–29%) | W 1 chorobie |
| PDGFBplatelet derived growth factor subunit B | Czasami (5–29%) | W 1 chorobie |
| PDGFRBplatelet derived growth factor receptor beta | Czasami (5–29%) | W 1 chorobie |
| PEX16peroxisomal biogenesis factor 16 | Czasami (5–29%) | W 1 chorobie |
| PHEXphosphate regulating endopeptidase X-linked | Czasami (5–29%) | W 1 chorobie |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Czasami (5–29%) | W 1 chorobie |
| PIK3R5phosphoinositide-3-kinase regulatory subunit 5 | Czasami (5–29%) | W 1 chorobie |
| PLECplectin | Czasami (5–29%) | W 1 chorobie |
| POLG2DNA polymerase gamma 2, accessory subunit | Czasami (5–29%) | W 1 chorobie |
| PPFIA3PPFI scaffold protein A3 | Czasami (5–29%) | W 1 chorobie |
| PTS6-pyruvoyltetrahydropterin synthase | Czasami (5–29%) | W 2 chorobach |
| PUF60poly(U) binding splicing factor 60 | Czasami (5–29%) | W 1 chorobie |
| PUS3pseudouridine synthase 3 | Czasami (5–29%) | W 1 chorobie |
| REEP1receptor accessory protein 1 | Czasami (5–29%) | W 2 chorobach |
| RELREL proto-oncogene, NF-kB subunit | Czasami (5–29%) | W 1 chorobie |
| RELNreelin | Czasami (5–29%) | W 1 chorobie |
| RNF170ring finger protein 170 | Czasami (5–29%) | W 1 chorobie |
| RRP12ribosomal RNA processing 12 homolog | Czasami (5–29%) | W 1 chorobie |
| SACSsacsin molecular chaperone | Czasami (5–29%) | W 1 chorobie |
| SATB2SATB homeobox 2 | Czasami (5–29%) | W 1 chorobie |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Czasami (5–29%) | W 1 chorobie |
| SIGMAR1sigma receptor chaperone 1 | Czasami (5–29%) | W 1 chorobie |
| SLC20A2solute carrier family 20 member 2 | Czasami (5–29%) | W 1 chorobie |
| SLC25A4solute carrier family 25 member 4 | Czasami (5–29%) | W 1 chorobie |
| SLC52A2solute carrier family 52 member 2 | Czasami (5–29%) | W 1 chorobie |
| SONSON DNA and RNA binding protein | Czasami (5–29%) | W 1 chorobie |
| SORDsorbitol dehydrogenase | Czasami (5–29%) | W 1 chorobie |
| SOX9SRY-box transcription factor 9 | Czasami (5–29%) | W 1 chorobie |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Czasami (5–29%) | W 1 chorobie |
| SPTLC2serine palmitoyltransferase long chain base subunit 2 | Czasami (5–29%) | W 1 chorobie |
| SRD5A3steroid 5 alpha-reductase 3 | Czasami (5–29%) | W 1 chorobie |
| SRPX2sushi repeat containing protein X-linked 2 | Czasami (5–29%) | W 1 chorobie |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Czasami (5–29%) | W 1 chorobie |
| SYT2synaptotagmin 2 | Czasami (5–29%) | W 1 chorobie |
| TANGO2transport and golgi organization 2 homolog | Czasami (5–29%) | W 1 chorobie |
| TBCDtubulin folding cofactor D | Czasami (5–29%) | W 1 chorobie |
| TFGtrafficking from ER to golgi regulator | Czasami (5–29%) | W 1 chorobie |
| THAP11THAP domain containing 11 | Czasami (5–29%) | W 1 chorobie |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Czasami (5–29%) | W 2 chorobach |
| TP63tumor protein p63 | Czasami (5–29%) | W 1 chorobie |
| TPP1tripeptidyl peptidase 1 | Czasami (5–29%) | W 1 chorobie |
| TRA2Btransformer 2 beta homolog | Czasami (5–29%) | W 1 chorobie |
| TRAPPC6Btrafficking protein particle complex subunit 6B | Czasami (5–29%) | W 1 chorobie |
| TRMT2BtRNA methyltransferase 2B | Czasami (5–29%) | W 1 chorobie |
| TTC19tetratricopeptide repeat domain 19 | Czasami (5–29%) | W 1 chorobie |
| TUBA4Atubulin alpha 4a | Czasami (5–29%) | W 1 chorobie |
| TUBB4Atubulin beta 4A class IVa | Czasami (5–29%) | W 2 chorobach |
| TUBB6tubulin beta 6 class V | Czasami (5–29%) | W 1 chorobie |
| TYMSthymidylate synthetase | Czasami (5–29%) | W 1 chorobie |
| UBE3Aubiquitin protein ligase E3A | Czasami (5–29%) | W 3 chorobach |
| UCHL1ubiquitin C-terminal hydrolase L1 | Czasami (5–29%) | W 1 chorobie |
| WACWW domain containing adaptor with coiled-coil | Czasami (5–29%) | W 1 chorobie |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Czasami (5–29%) | W 2 chorobach |
| WSB2WD repeat and SOCS box containing 2 | Czasami (5–29%) | W 1 chorobie |
| XPO1exportin 1 | Czasami (5–29%) | W 1 chorobie |
| XPR1xenotropic and polytropic retrovirus receptor 1 | Czasami (5–29%) | W 1 chorobie |
| ZFXzinc finger protein X-linked | Czasami (5–29%) | W 1 chorobie |
| ZMYM2zinc finger MYM-type containing 2 | Czasami (5–29%) | W 1 chorobie |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Rzadko (1–4%) | W 1 chorobie |
| CLCN1chloride voltage-gated channel 1 | Rzadko (1–4%) | W 2 chorobach |
| CYP7B1cytochrome P450 family 7 subfamily B member 1 | Rzadko (1–4%) | W 1 chorobie |
| DNM1Ldynamin 1L | Rzadko (1–4%) | W 1 chorobie |
| DYSFdysferlin | Rzadko (1–4%) | W 1 chorobie |
| EXT1exostosin glycosyltransferase 1 | Rzadko (1–4%) | W 1 chorobie |
| EXT2exostosin glycosyltransferase 2 | Rzadko (1–4%) | W 1 chorobie |
| FA2Hfatty acid 2-hydroxylase | Rzadko (1–4%) | W 1 chorobie |
| FGF10fibroblast growth factor 10 | Rzadko (1–4%) | W 1 chorobie |
| FGFR2fibroblast growth factor receptor 2 | Rzadko (1–4%) | W 1 chorobie |
| FGFR3fibroblast growth factor receptor 3 | Rzadko (1–4%) | W 1 chorobie |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Rzadko (1–4%) | W 1 chorobie |
| PPIBpeptidylprolyl isomerase B | Rzadko (1–4%) | W 1 chorobie |
| PYGMglycogen phosphorylase, muscle associated | Rzadko (1–4%) | W 1 chorobie |
| RNU4-2RNA, U4 small nuclear 2 | Rzadko (1–4%) | W 1 chorobie |
| SETBP1SET binding protein 1 | Rzadko (1–4%) | W 1 chorobie |
| ZEB2zinc finger E-box binding homeobox 2 | Rzadko (1–4%) | W 2 chorobach |
| ACTG2actin gamma 2, smooth muscle | Nie odnotowano | W 1 chorobie |
| ADH1Calcohol dehydrogenase 1C (class I), gamma polypeptide | Nie odnotowano | W 1 chorobie |
| APOEapolipoprotein E | Nie odnotowano | W 1 chorobie |
| ARandrogen receptor | Nie odnotowano | W 1 chorobie |
| ATP7BATPase copper transporting beta | Nie odnotowano | W 1 chorobie |
| ATXN10ataxin 10 | Nie odnotowano | W 1 chorobie |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Nie odnotowano | W 1 chorobie |
| CAVIN1caveolae associated protein 1 | Nie odnotowano | W 1 chorobie |
| CHATcholine O-acetyltransferase | Nie odnotowano | W 1 chorobie |
| CHMP1Acharged multivesicular body protein 1A | Nie odnotowano | W 1 chorobie |
| CHRNA1cholinergic receptor nicotinic alpha 1 subunit | Nie odnotowano | W 2 chorobach |
| CHRNEcholinergic receptor nicotinic epsilon subunit | Nie odnotowano | W 2 chorobach |
| CTNScystinosin, lysosomal cystine transporter | Nie odnotowano | W 1 chorobie |
| FLAD1flavin adenine dinucleotide synthetase 1 | Nie odnotowano | W 1 chorobie |
| FLNCfilamin C | Nie odnotowano | W 1 chorobie |
| GCH1GTP cyclohydrolase 1 | Nie odnotowano | W 1 chorobie |
| GEMIN4gem nuclear organelle associated protein 4 | Nie odnotowano | W 1 chorobie |
| GFPT1glutamine--fructose-6-phosphate transaminase 1 | Nie odnotowano | W 1 chorobie |
| GJB1gap junction protein beta 1 | Nie odnotowano | W 1 chorobie |
| HOXB1homeobox B1 | Nie odnotowano | W 1 chorobie |
| HPRT1hypoxanthine phosphoribosyltransferase 1 | Nie odnotowano | W 1 chorobie |
| HTThuntingtin | Nie odnotowano | W 1 chorobie |
| KAT6Blysine acetyltransferase 6B | Nie odnotowano | W 1 chorobie |
| LIFRLIF receptor subunit alpha | Nie odnotowano | W 1 chorobie |
| MECP2methyl-CpG binding protein 2 | Nie odnotowano | W 1 chorobie |
| MPZmyelin protein zero | Nie odnotowano | W 1 chorobie |
| MT-TTmitochondrially encoded tRNA-Thr (ACN) | Nie odnotowano | W 1 chorobie |
| MYH14myosin heavy chain 14 | Nie odnotowano | W 1 chorobie |
| MYH8myosin heavy chain 8 | Nie odnotowano | W 1 chorobie |
| MYO9Amyosin IXA | Nie odnotowano | W 1 chorobie |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Nie odnotowano | W 1 chorobie |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Nie odnotowano | W 1 chorobie |
| NDUFS3NADH:ubiquinone oxidoreductase core subunit S3 | Nie odnotowano | W 1 chorobie |
| NPC1NPC intracellular cholesterol transporter 1 | Nie odnotowano | W 1 chorobie |
| NPC2NPC intracellular cholesterol transporter 2 | Nie odnotowano | W 1 chorobie |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Nie odnotowano | W 1 chorobie |
| PAX7paired box 7 | Nie odnotowano | W 1 chorobie |
| PCNAproliferating cell nuclear antigen | Nie odnotowano | W 1 chorobie |
| PDP1pyruvate dehydrogenase phosphatase catalytic subunit 1 | Nie odnotowano | W 1 chorobie |
| PLAAphospholipase A2 activating protein | Nie odnotowano | W 1 chorobie |
| PLIN4perilipin 4 | Nie odnotowano | W 1 chorobie |
| PNKDPNKD metallo-beta-lactamase domain containing | Nie odnotowano | W 1 chorobie |
| PRKCGprotein kinase C gamma | Nie odnotowano | W 1 chorobie |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Nie odnotowano | W 1 chorobie |
| PSAPprosaposin | Nie odnotowano | W 1 chorobie |
| PSEN1presenilin 1 | Nie odnotowano | W 1 chorobie |
| RLIMring finger protein, LIM domain interacting | Nie odnotowano | W 1 chorobie |
| SLC12A2solute carrier family 12 member 2 | Nie odnotowano | W 1 chorobie |
| SLC52A3solute carrier family 52 member 3 | Nie odnotowano | W 2 chorobach |
| SLC6A9solute carrier family 6 member 9 | Nie odnotowano | W 1 chorobie |
| SNCAIPsynuclein alpha interacting protein | Nie odnotowano | W 1 chorobie |
| TBC1D23TBC1 domain family member 23 | Nie odnotowano | W 1 chorobie |
| TBPTATA-box binding protein | Nie odnotowano | W 2 chorobach |
| VAC14VAC14 component of PIKFYVE complex | Nie odnotowano | W 1 chorobie |
| WFS1wolframin ER transmembrane glycoprotein | Nie odnotowano | W 1 chorobie |
| ZC4H2zinc finger C4H2-type containing | Nie odnotowano | W 1 chorobie |
Jak często występuje wśród osób z jedną z chorób związanych z tym genem, najczęściej spośród wszystkich, według danych Human Phenotype Ontology. Te strony opisują cechy i badania, na których się opierają; nie są diagnozą, a w sprawie objawów należy zwrócić się do lekarza lub doradcy genetycznego.
Cechy podrzędne
Cechy nadrzędne
Skąd pochodzą te dane
- Human Phenotype Ontology, wydanie 2026-09-01: cecha, jej nazwy, definicja oraz geny z nią powiązane. Więcej informacji znajdą Państwo na stronie hpo.jax.org.
- Wydanie danych 2026.10.16-c6eea6bf.
Jeden test. Odpowiedzi na całe życie.
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