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Cecha
Difficulty articulating speech
Nazwa kliniczna: Dysarthria
Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.
Podsumowanie
- Znana także jako
- Dysarthric speech
- Układ organizmu
- Abnormality of the nervous system
Difficulty articulating speechHP:0001260
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Read the genes linked to Difficulty articulating speech, and the rest of your genome, with one test.
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Zamawiam Genome Test601 genów powiązanych z Difficulty articulating speech
Zmiany w tych genach powodują rzadkie choroby, w których występuje Difficulty articulating speech. 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 |
|---|---|---|
| ABCA2ATP binding cassette subfamily A member 2 | Zawsze | W 1 chorobie |
| ABCB7ATP binding cassette subfamily B member 7 | Zawsze | W 2 chorobach |
| ACBD5acyl-CoA binding domain containing 5 | Zawsze | W 1 chorobie |
| ACTBactin beta | Zawsze | W 1 chorobie |
| ADCY5adenylate cyclase 5 | Zawsze | W 3 chorobach |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Zawsze | W 3 chorobach |
| ANO10anoctamin 10 | Zawsze | W 2 chorobach |
| ATG5autophagy related 5 | Zawsze | W 1 chorobie |
| ATMATM serine/threonine kinase | Zawsze | W 3 chorobach |
| ATP13A2ATPase cation transporting 13A2 | Zawsze | W 5 chorobach |
| ATP8A2ATPase phospholipid transporting 8A2 | Zawsze | W 1 chorobie |
| ATXN10ataxin 10 | Zawsze | W 2 chorobach |
| ATXN2ataxin 2 | Zawsze | W 4 chorobach |
| ATXN7ataxin 7 | Zawsze | W 2 chorobach |
| CAPRIN1cell cycle associated protein 1 | Zawsze | W 1 chorobie |
| CBScystathionine beta-synthase | Zawsze | W 1 chorobie |
| CERS1ceramide synthase 1 | Zawsze | W 1 chorobie |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Zawsze | W 3 chorobach |
| CLDN11claudin 11 | Zawsze | W 1 chorobie |
| COA7cytochrome c oxidase assembly factor 7 | Zawsze | W 1 chorobie |
| COASYCoenzyme A synthase | Zawsze | W 2 chorobach |
| COX20cytochrome c oxidase assembly factor COX20 | Zawsze | W 1 chorobie |
| CSF1Rcolony stimulating factor 1 receptor | Zawsze | W 2 chorobach |
| CTSAcathepsin A | Zawsze | W 1 chorobie |
| CWF19L1CWF19 like cell cycle control factor 1 | Zawsze | W 2 chorobach |
| DMXL2Dmx like 2 | Zawsze | W 2 chorobach |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Zawsze | W 1 chorobie |
| DNM1Ldynamin 1L | Zawsze | W 1 chorobie |
| DYNC1I2dynein cytoplasmic 1 intermediate chain 2 | Zawsze | W 1 chorobie |
| EIF2AK1eukaryotic translation initiation factor 2 alpha kinase 1 | Zawsze | W 1 chorobie |
| ELOVL4ELOVL fatty acid elongase 4 | Zawsze | W 2 chorobach |
| EXOSC5exosome component 5 | Zawsze | W 1 chorobie |
| FAT2FAT atypical cadherin 2 | Zawsze | W 1 chorobie |
| FBXO7F-box protein 7 | Zawsze | W 1 chorobie |
| FDXRferredoxin reductase | Zawsze | W 1 chorobie |
| FEM1Bfem-1 homolog B | Zawsze | W 1 chorobie |
| GFAPglial fibrillary acidic protein | Zawsze | W 3 chorobach |
| GJC2gap junction protein gamma 2 | Zawsze | W 3 chorobach |
| GON4Lgon-4 like | Zawsze | W 1 chorobie |
| GPAA1glycosylphosphatidylinositol anchor attachment 1 | Zawsze | W 2 chorobach |
Pokaż jeszcze 561 genów
| Gen | Jak często występuje | Choroby |
|---|---|---|
| GPRC5BG protein-coupled receptor class C group 5 member B | Zawsze | W 1 chorobie |
| GRID2glutamate ionotropic receptor delta type subunit 2 | Zawsze | W 1 chorobie |
| GRM1glutamate metabotropic receptor 1 | Zawsze | W 2 chorobach |
| HEPHL1hephaestin like 1 | Zawsze | W 1 chorobie |
| HYCC1hyccin PI4KA lipid kinase complex subunit 1 | Zawsze | W 1 chorobie |
| JPH1junctophilin 1 | Zawsze | W 1 chorobie |
| KCNA4potassium voltage-gated channel subfamily A member 4 | Zawsze | W 1 chorobie |
| KCNK3potassium two pore domain channel subfamily K member 3 | Zawsze | W 1 chorobie |
| KCTD7potassium channel tetramerization domain containing 7 | Zawsze | W 2 chorobach |
| KDM6Alysine demethylase 6A | Zawsze | W 1 chorobie |
| KIF1Ckinesin family member 1C | Zawsze | W 2 chorobach |
| KMT2Dlysine methyltransferase 2D | Zawsze | W 1 chorobie |
| LAMB1laminin subunit beta 1 | Zawsze | W 1 chorobie |
| LRP12LDL receptor related protein 12 | Zawsze | W 3 chorobach |
| LRRC7leucine rich repeat containing 7 | Zawsze | W 1 chorobie |
| MAPTmicrotubule associated protein tau | Zawsze | W 4 chorobach |
| MAU2MAU2 sister chromatid cohesion factor | Zawsze | W 1 chorobie |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Zawsze | W 2 chorobach |
| MED16mediator complex subunit 16 | Zawsze | W 1 chorobie |
| MRE11MRE11 double strand break repair nuclease | Zawsze | W 2 chorobach |
| MTPAPmitochondrial poly(A) polymerase | Zawsze | W 2 chorobach |
| MYORGmyogenesis regulating glycosidase | Zawsze | W 2 chorobach |
| NDC1NDC1 transmembrane nucleoporin | Zawsze | W 1 chorobie |
| NDUFAF6NADH:ubiquinone oxidoreductase complex assembly factor 6 | Zawsze | W 1 chorobie |
| NDUFS8NADH:ubiquinone oxidoreductase core subunit S8 | Zawsze | W 1 chorobie |
| NKX2-1NK2 homeobox 1 | Zawsze | W 3 chorobach |
| NOTCH2NLCnotch 2 N-terminal like C | Zawsze | W 3 chorobach |
| NT5C25'-nucleotidase, cytosolic II | Zawsze | W 1 chorobie |
| NUP54nucleoporin 54 | Zawsze | W 2 chorobach |
| NUTM2B-AS1NUTM2B antisense RNA 1 | Zawsze | W 1 chorobie |
| PDE8Bphosphodiesterase 8B | Zawsze | W 2 chorobach |
| PEX12peroxisomal biogenesis factor 12 | Zawsze | W 1 chorobie |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Zawsze | W 1 chorobie |
| PIK3R5phosphoinositide-3-kinase regulatory subunit 5 | Zawsze | W 1 chorobie |
| PMPCApeptidase, mitochondrial processing subunit alpha | Zawsze | W 2 chorobach |
| PNPLA6patatin like domain 6, lysophospholipase | Zawsze | W 1 chorobie |
| PNPLA8patatin like domain 8, phospholipase A2 | Zawsze | W 1 chorobie |
| POLGDNA polymerase gamma, catalytic subunit | Zawsze | W 7 chorobach |
| POLR3BRNA polymerase III subunit B | Zawsze | W 3 chorobach |
| PRDX3peroxiredoxin 3 | Zawsze | W 1 chorobie |
| PTRHD1peptidyl-tRNA hydrolase domain containing 1 | Zawsze | W 1 chorobie |
| RFC4replication factor C subunit 4 | Zawsze | W 1 chorobie |
| RNF220ring finger protein 220 | Zawsze | W 1 chorobie |
| RRP12ribosomal RNA processing 12 homolog | Zawsze | W 1 chorobie |
| RUBCNrubicon autophagy regulator | Zawsze | W 2 chorobach |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Zawsze | W 2 chorobach |
| SCO2synthesis of cytochrome C oxidase 2 | Zawsze | W 2 chorobach |
| SETXsenataxin | Zawsze | W 1 chorobie |
| SLC13A3solute carrier family 13 member 3 | Zawsze | W 1 chorobie |
| SLC18A2solute carrier family 18 member A2 | Zawsze | W 2 chorobach |
| SLC25A42solute carrier family 25 member 42 | Zawsze | W 1 chorobie |
| SLC2A1solute carrier family 2 member 1 | Zawsze | W 5 chorobach |
| SNAP25synaptosome associated protein 25 | Zawsze | W 1 chorobie |
| SPARTspartin | Zawsze | W 2 chorobach |
| SPG21SPG21 abhydrolase domain containing, maspardin | Zawsze | W 1 chorobie |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Zawsze | W 2 chorobach |
| SPTBN2spectrin beta, non-erythrocytic 2 | Zawsze | W 2 chorobach |
| SQSTM1sequestosome 1 | Zawsze | W 4 chorobach |
| STUB1STIP1 homology and U-box containing protein 1 | Zawsze | W 3 chorobach |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Zawsze | W 2 chorobach |
| SYNJ1synaptojanin 1 | Zawsze | W 1 chorobie |
| SYT14synaptotagmin 14 | Zawsze | W 2 chorobach |
| TANGO2transport and golgi organization 2 homolog | Zawsze | W 1 chorobie |
| TDP1tyrosyl-DNA phosphodiesterase 1 | Zawsze | W 1 chorobie |
| THAP11THAP domain containing 11 | Zawsze | W 1 chorobie |
| THG1LtRNA-histidine guanylyltransferase 1 like | Zawsze | W 1 chorobie |
| TMEM63Btransmembrane protein 63B | Zawsze | W 1 chorobie |
| TNRtenascin R | Zawsze | W 1 chorobie |
| TOP3ADNA topoisomerase III alpha | Zawsze | W 1 chorobie |
| TOR1Atorsin family 1 member A | Zawsze | W 1 chorobie |
| TSPOAP1TSPO associated protein 1 | Zawsze | W 1 chorobie |
| TTBK2tau tubulin kinase 2 | Zawsze | W 2 chorobach |
| TTPAalpha tocopherol transfer protein | Zawsze | W 2 chorobach |
| TUBB4Atubulin beta 4A class IVa | Zawsze | W 1 chorobie |
| UBA5ubiquitin like modifier activating enzyme 5 | Zawsze | W 1 chorobie |
| UNC13Aunc-13 homolog A | Zawsze | W 2 chorobach |
| VLDLRvery low density lipoprotein receptor | Zawsze | W 1 chorobie |
| VPS11VPS11 core subunit of CORVET and HOPS complexes | Zawsze | W 1 chorobie |
| VPS13Avacuolar protein sorting 13 homolog A | Zawsze | W 2 chorobach |
| VPS41VPS41 subunit of HOPS complex | Zawsze | W 2 chorobach |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Zawsze | W 1 chorobie |
| WWOXWW domain containing oxidoreductase | Zawsze | W 2 chorobach |
| XRCC1X-ray repair cross complementing 1 | Zawsze | W 1 chorobie |
| XRCC4X-ray repair cross complementing 4 | Zawsze | W 1 chorobie |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Bardzo często (80–99%) | W 3 chorobach |
| ARandrogen receptor | Bardzo często (80–99%) | W 2 chorobach |
| ATP7BATPase copper transporting beta | Bardzo często (80–99%) | W 2 chorobach |
| BEAN1brain expressed associated with NEDD4 1 | Bardzo często (80–99%) | W 2 chorobach |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Bardzo często (80–99%) | W 2 chorobach |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Bardzo często (80–99%) | W 2 chorobach |
| CAPN1calpain 1 | Bardzo często (80–99%) | W 2 chorobach |
| CBLCbl proto-oncogene | Bardzo często (80–99%) | W 1 chorobie |
| DAB1DAB adaptor protein 1 | Bardzo często (80–99%) | W 1 chorobie |
| DAGLAdiacylglycerol lipase alpha | Bardzo często (80–99%) | W 1 chorobie |
| DCAF17DDB1 and CUL4 associated factor 17 | Bardzo często (80–99%) | W 2 chorobach |
| EEF2eukaryotic translation elongation factor 2 | Bardzo często (80–99%) | W 2 chorobach |
| ELOVL5ELOVL fatty acid elongase 5 | Bardzo często (80–99%) | W 2 chorobach |
| FGF14fibroblast growth factor 14 | Bardzo często (80–99%) | W 3 chorobach |
| FMR1fragile X messenger ribonucleoprotein 1 | Bardzo często (80–99%) | W 2 chorobach |
| FXNfrataxin | Bardzo często (80–99%) | W 3 chorobach |
| GPT2glutamic--pyruvic transaminase 2 | Bardzo często (80–99%) | W 2 chorobach |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Bardzo często (80–99%) | W 1 chorobie |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Bardzo często (80–99%) | W 3 chorobach |
| KCNC3potassium voltage-gated channel subfamily C member 3 | Bardzo często (80–99%) | W 2 chorobach |
| KCND3potassium voltage-gated channel subfamily D member 3 | Bardzo często (80–99%) | W 2 chorobach |
| KLC2kinesin light chain 2 | Bardzo często (80–99%) | W 2 chorobach |
| KRASKRas proto-oncogene, GTPase | Bardzo często (80–99%) | W 3 chorobach |
| LZTR1leucine zipper like post translational regulator 1 | Bardzo często (80–99%) | W 1 chorobie |
| MRASmuscle RAS oncogene homolog | Bardzo często (80–99%) | W 1 chorobie |
| NIT1nitrilase 1 | Bardzo często (80–99%) | W 1 chorobie |
| NOP56NOP56 ribonucleoprotein | Bardzo często (80–99%) | W 2 chorobach |
| NRASNRAS proto-oncogene, GTPase | Bardzo często (80–99%) | W 2 chorobach |
| PANK2pantothenate kinase 2 | Bardzo często (80–99%) | W 3 chorobach |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Bardzo często (80–99%) | W 1 chorobie |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Bardzo często (80–99%) | W 1 chorobie |
| RAI1retinoic acid induced 1 | Bardzo często (80–99%) | W 1 chorobie |
| RASA2RAS p21 protein activator 2 | Bardzo często (80–99%) | W 1 chorobie |
| RFC1replication factor C subunit 1 | Bardzo często (80–99%) | W 2 chorobach |
| RILPL1Rab interacting lysosomal protein like 1 | Bardzo często (80–99%) | W 1 chorobie |
| RIT1Ras like without CAAX 1 | Bardzo często (80–99%) | W 1 chorobie |
| RNU12RNA, U12 small nuclear | Bardzo często (80–99%) | W 2 chorobach |
| RRASRAS related | Bardzo często (80–99%) | W 1 chorobie |
| RRAS2RAS related 2 | Bardzo często (80–99%) | W 1 chorobie |
| SIL1SIL1 nucleotide exchange factor | Bardzo często (80–99%) | W 2 chorobach |
| SLC19A3solute carrier family 19 member 3 | Bardzo często (80–99%) | W 2 chorobach |
| SLC44A1solute carrier family 44 member 1 | Bardzo często (80–99%) | W 1 chorobie |
| SNAPC4small nuclear RNA activating complex polypeptide 4 | Bardzo często (80–99%) | W 1 chorobie |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Bardzo często (80–99%) | W 1 chorobie |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Bardzo często (80–99%) | W 1 chorobie |
| SPRED2sprouty related EVH1 domain containing 2 | Bardzo często (80–99%) | W 1 chorobie |
| TGM6transglutaminase 6 | Bardzo często (80–99%) | W 2 chorobach |
| TUBA4Atubulin alpha 4a | Bardzo często (80–99%) | W 1 chorobie |
| UBTFupstream binding transcription factor | Bardzo często (80–99%) | W 1 chorobie |
| UROC1urocanate hydratase 1 | Bardzo często (80–99%) | W 1 chorobie |
| AARS2alanyl-tRNA synthetase 2, mitochondrial | Często (30–79%) | W 1 chorobie |
| ABCD3ATP binding cassette subfamily D member 3 | Często (30–79%) | W 1 chorobie |
| ADARadenosine deaminase RNA specific | Często (30–79%) | W 1 chorobie |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Często (30–79%) | W 3 chorobach |
| ANGangiogenin | Często (30–79%) | W 1 chorobie |
| ANXA11annexin A11 | Często (30–79%) | W 2 chorobach |
| AQP4aquaporin 4 | Często (30–79%) | W 1 chorobie |
| ARSAarylsulfatase A | Często (30–79%) | W 4 chorobach |
| ARXaristaless related homeobox | Często (30–79%) | W 2 chorobach |
| ATCAYATCAY kinesin light chain interacting caytaxin | Często (30–79%) | W 2 chorobach |
| ATN1atrophin 1 | Często (30–79%) | W 1 chorobie |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Często (30–79%) | W 3 chorobach |
| 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 |
| ATXN1ataxin 1 | Często (30–79%) | W 2 chorobach |
| ATXN3ataxin 3 | Często (30–79%) | W 5 chorobach |
| B4GALNT1beta-1,4-N-acetyl-galactosaminyltransferase 1 | Często (30–79%) | W 1 chorobie |
| C19orf12chromosome 19 open reading frame 12 | Często (30–79%) | W 2 chorobach |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Często (30–79%) | W 6 chorobach |
| CACNB4calcium voltage-gated channel auxiliary subunit beta 4 | Często (30–79%) | W 3 chorobach |
| CAMTA1calmodulin binding transcription activator 1 | Często (30–79%) | W 2 chorobach |
| CCDC88Ccoiled-coil and HOOK domain protein 88C | Często (30–79%) | W 2 chorobach |
| CCNFcyclin F | Często (30–79%) | W 2 chorobach |
| CFAP410cilia and flagella associated protein 410 | Często (30–79%) | W 1 chorobie |
| CHAMP1chromosome alignment maintaining phosphoprotein 1 | Często (30–79%) | W 1 chorobie |
| CHMP2Bcharged multivesicular body protein 2B | Często (30–79%) | W 1 chorobie |
| CISD2CDGSH iron sulfur domain 2 | Często (30–79%) | W 1 chorobie |
| CMPK2cytidine/uridine monophosphate kinase 2 | Często (30–79%) | W 1 chorobie |
| COA8cytochrome c oxidase assembly factor 8 | Często (30–79%) | W 1 chorobie |
| COQ2coenzyme Q2, polyprenyltransferase | Często (30–79%) | W 4 chorobach |
| CPceruloplasmin | Często (30–79%) | W 2 chorobach |
| CSTBcystatin B | Często (30–79%) | W 2 chorobach |
| CTSFcathepsin F | Często (30–79%) | W 1 chorobie |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Często (30–79%) | W 1 chorobie |
| DAOD-amino acid oxidase | Często (30–79%) | W 1 chorobie |
| DARS1aspartyl-tRNA synthetase 1 | Często (30–79%) | W 1 chorobie |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Często (30–79%) | W 2 chorobach |
| DCTN1dynactin subunit 1 | Często (30–79%) | W 3 chorobach |
| DDHD2DDHD domain containing 2 | Często (30–79%) | W 2 chorobach |
| DLATdihydrolipoamide S-acetyltransferase | Często (30–79%) | W 1 chorobie |
| DNAJB6DnaJ heat shock protein family (Hsp40) member B6 | Często (30–79%) | W 1 chorobie |
| EIF2AK2eukaryotic translation initiation factor 2 alpha kinase 2 | Często (30–79%) | W 1 chorobie |
| EIF2B2eukaryotic translation initiation factor 2B subunit beta | Często (30–79%) | W 1 chorobie |
| EIF2B4eukaryotic translation initiation factor 2B subunit delta | Często (30–79%) | W 1 chorobie |
| ELOVL1ELOVL fatty acid elongase 1 | Często (30–79%) | W 1 chorobie |
| EMC10ER membrane protein complex subunit 10 | Często (30–79%) | W 1 chorobie |
| ENTPD1ectonucleoside triphosphate diphosphohydrolase 1 | Często (30–79%) | W 2 chorobach |
| EPM2AEPM2A glucan phosphatase, laforin | 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 |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Często (30–79%) | W 2 chorobach |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Często (30–79%) | W 2 chorobach |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Często (30–79%) | W 1 chorobie |
| ERCC5ERCC excision repair 5, endonuclease | Często (30–79%) | W 1 chorobie |
| ERLIN1ER lipid raft associated 1 | Często (30–79%) | W 2 chorobach |
| FA2Hfatty acid 2-hydroxylase | Często (30–79%) | W 3 chorobach |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Często (30–79%) | W 1 chorobie |
| FBLN1fibulin 1 | Często (30–79%) | W 1 chorobie |
| FBXL3F-box and leucine rich repeat protein 3 | Często (30–79%) | W 1 chorobie |
| FIG4FIG4 phosphoinositide 5-phosphatase | Często (30–79%) | W 1 chorobie |
| FLRT1fibronectin leucine rich transmembrane protein 1 | Często (30–79%) | W 1 chorobie |
| FOXP2forkhead box P2 | Często (30–79%) | W 2 chorobach |
| FTLferritin light chain | Często (30–79%) | W 2 chorobach |
| FUSFUS RNA binding protein | Często (30–79%) | W 2 chorobach |
| GBA2glucosylceramidase beta 2 | Często (30–79%) | W 1 chorobie |
| GCDHglutaryl-CoA dehydrogenase | Często (30–79%) | W 1 chorobie |
| GCH1GTP cyclohydrolase 1 | Często (30–79%) | W 1 chorobie |
| GDAP2ganglioside induced differentiation associated protein 2 | Często (30–79%) | W 1 chorobie |
| GJA1gap junction protein alpha 1 | Często (30–79%) | W 2 chorobach |
| GLB1galactosidase beta 1 | Często (30–79%) | W 1 chorobie |
| GLE1GLE1 RNA export mediator | Często (30–79%) | W 2 chorobach |
| GLT8D1glycosyltransferase 8 domain containing 1 | Często (30–79%) | W 1 chorobie |
| GNSglucosamine (N-acetyl)-6-sulfatase | Często (30–79%) | W 1 chorobie |
| GOSR2golgi SNAP receptor complex member 2 | Często (30–79%) | W 2 chorobach |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 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 3 chorobach |
| HHAThedgehog acyltransferase | Często (30–79%) | W 1 chorobie |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Często (30–79%) | W 1 chorobie |
| HPCAhippocalcin | Często (30–79%) | W 2 chorobach |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Często (30–79%) | W 1 chorobie |
| IFRD1interferon related developmental regulator 1 | Często (30–79%) | W 1 chorobie |
| JAM2junctional adhesion molecule 2 | Często (30–79%) | W 2 chorobach |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Często (30–79%) | W 3 chorobach |
| KMT2Blysine methyltransferase 2B | Często (30–79%) | W 2 chorobach |
| LYRM7LYR motif containing 7 | Często (30–79%) | W 1 chorobie |
| MARS2methionyl-tRNA synthetase 2, mitochondrial | Często (30–79%) | W 1 chorobie |
| MATR3matrin 3 | Często (30–79%) | W 3 chorobach |
| MICOS13mitochondrial contact site and cristae organizing system subunit 13 | Często (30–79%) | W 1 chorobie |
| MMEmembrane metalloendopeptidase | Często (30–79%) | W 2 chorobach |
| MMUTmethylmalonyl-CoA mutase | Często (30–79%) | W 1 chorobie |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Często (30–79%) | W 2 chorobach |
| MTRFRmitochondrial translation release factor in rescue | Często (30–79%) | W 2 chorobach |
| MVKmevalonate kinase | Często (30–79%) | W 1 chorobie |
| MYOTmyotilin | Często (30–79%) | W 1 chorobie |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Często (30–79%) | W 1 chorobie |
| NAXENAD(P)HX epimerase | Często (30–79%) | W 2 chorobach |
| NDUFS7NADH:ubiquinone oxidoreductase core subunit S7 | Często (30–79%) | W 1 chorobie |
| NEFHneurofilament heavy chain | Często (30–79%) | W 2 chorobach |
| NEK1NIMA related kinase 1 | Często (30–79%) | W 2 chorobach |
| NHLRC1NHL repeat containing E3 ubiquitin protein ligase 1 | Często (30–79%) | W 1 chorobie |
| NKX6-2NK6 homeobox 2 | Często (30–79%) | W 2 chorobach |
| NOTCH3notch receptor 3 | Często (30–79%) | W 2 chorobach |
| NUP62nucleoporin 62 | Często (30–79%) | W 1 chorobie |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Często (30–79%) | W 1 chorobie |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Często (30–79%) | W 2 chorobach |
| OPTNoptineurin | Często (30–79%) | W 2 chorobach |
| PDE10Aphosphodiesterase 10A | Często (30–79%) | W 2 chorobach |
| PDYNprodynorphin | Często (30–79%) | W 2 chorobach |
| PEX10peroxisomal biogenesis factor 10 | Często (30–79%) | W 2 chorobach |
| PEX16peroxisomal biogenesis factor 16 | Często (30–79%) | W 1 chorobie |
| PFN1profilin 1 | Często (30–79%) | W 2 chorobach |
| PGM3phosphoglucomutase 3 | Często (30–79%) | W 2 chorobach |
| PLA2G6phospholipase A2 group VI | Często (30–79%) | W 4 chorobach |
| PLEKHG4pleckstrin homology and RhoGEF domain containing G4 | Często (30–79%) | W 1 chorobie |
| PLP1proteolipid protein 1 | Często (30–79%) | W 4 chorobach |
| PMM2phosphomannomutase 2 | Często (30–79%) | W 1 chorobie |
| POLR3GLRNA polymerase III subunit GL | Często (30–79%) | W 1 chorobie |
| POU4F1POU class 4 homeobox 1 | Często (30–79%) | W 2 chorobach |
| PPFIA3PPFI scaffold protein A3 | Często (30–79%) | W 1 chorobie |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Często (30–79%) | W 1 chorobie |
| PRDM8PR/SET domain 8 | Często (30–79%) | W 2 chorobach |
| PRICKLE1prickle planar cell polarity protein 1 | Często (30–79%) | W 2 chorobach |
| PRKRAprotein activator of interferon induced protein kinase EIF2AK2 | Często (30–79%) | W 2 chorobach |
| PRNPprion protein (Kanno blood group) | Często (30–79%) | W 6 chorobach |
| PRPHperipherin | Często (30–79%) | W 2 chorobach |
| PRRT2proline rich transmembrane protein 2 | Często (30–79%) | W 1 chorobie |
| PSAPprosaposin | Często (30–79%) | W 4 chorobach |
| RAB3ARAB3A, member RAS oncogene family | Często (30–79%) | W 1 chorobie |
| RANBP2RAN binding protein 2 | Często (30–79%) | W 1 chorobie |
| RARS1arginyl-tRNA synthetase 1 | Często (30–79%) | W 2 chorobach |
| REPS1RALBP1 associated Eps domain containing 1 | Często (30–79%) | W 1 chorobie |
| RNASEH1ribonuclease H1 | Często (30–79%) | W 2 chorobach |
| RNF170ring finger protein 170 | Często (30–79%) | W 2 chorobach |
| RNF216ring finger protein 216 | Często (30–79%) | W 1 chorobie |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Często (30–79%) | W 3 chorobach |
| RTTNrotatin | Często (30–79%) | W 2 chorobach |
| SACSsacsin molecular chaperone | Często (30–79%) | W 2 chorobach |
| SAMD9Lsterile alpha motif domain containing 9 like | Często (30–79%) | W 2 chorobach |
| SATB1SATB homeobox 1 | Często (30–79%) | W 2 chorobach |
| SCARB2scavenger receptor class B member 2 | Często (30–79%) | W 2 chorobach |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Często (30–79%) | W 1 chorobie |
| SELENOIselenoprotein I | Często (30–79%) | W 1 chorobie |
| SLC30A10solute carrier family 30 member 10 | Często (30–79%) | W 2 chorobach |
| SLC7A6OSsolute carrier family 7 member 6 opposite strand | Często (30–79%) | W 1 chorobie |
| SOD1superoxide dismutase 1 | Często (30–79%) | W 2 chorobach |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Często (30–79%) | W 3 chorobach |
| TACO1translational activator of cytochrome c oxidase I | Często (30–79%) | W 1 chorobie |
| TAF15TATA-box binding protein associated factor 15 | Często (30–79%) | W 1 chorobie |
| TARDBPTAR DNA binding protein | Często (30–79%) | W 3 chorobach |
| TBC1D24TBC1 domain family member 24 | Często (30–79%) | W 3 chorobach |
| TBCEtubulin folding cofactor E | Często (30–79%) | W 2 chorobach |
| TBK1TANK binding kinase 1 | Często (30–79%) | W 3 chorobach |
| TECPR2tectonin beta-propeller repeat containing 2 | Często (30–79%) | W 2 chorobach |
| THAP1THAP domain containing 1 | Często (30–79%) | W 2 chorobach |
| TK2thymidine kinase 2 | Często (30–79%) | W 1 chorobie |
| TMEM240transmembrane protein 240 | Często (30–79%) | W 2 chorobach |
| TPP1tripeptidyl peptidase 1 | Często (30–79%) | W 2 chorobach |
| TREM2triggering receptor expressed on myeloid cells 2 | Często (30–79%) | W 1 chorobie |
| TTC19tetratricopeptide repeat domain 19 | Często (30–79%) | W 1 chorobie |
| TWNKtwinkle mtDNA helicase | Często (30–79%) | W 4 chorobach |
| UBQLN2ubiquilin 2 | Często (30–79%) | W 2 chorobach |
| VAPBVAMP associated protein B and C | Często (30–79%) | W 2 chorobach |
| VCPvalosin containing protein | Często (30–79%) | W 4 chorobach |
| VPS13Dvacuolar protein sorting 13 homolog D | Często (30–79%) | W 2 chorobach |
| WDR73WD repeat domain 73 | Często (30–79%) | W 1 chorobie |
| WFS1wolframin ER transmembrane glycoprotein | Często (30–79%) | W 2 chorobach |
| XKX-linked Kx blood group antigen, Kell and VPS13A binding protein | Często (30–79%) | W 1 chorobie |
| ZFYVE26zinc finger FYVE-type containing 26 | Często (30–79%) | W 2 chorobach |
| ZNF592zinc finger protein 592 | Często (30–79%) | W 1 chorobie |
| AARS1alanyl-tRNA synthetase 1 | Czasami (5–29%) | W 1 chorobie |
| ABCD1ATP binding cassette subfamily D member 1 | Czasami (5–29%) | W 2 chorobach |
| ADD3adducin 3 | Czasami (5–29%) | W 1 chorobie |
| ADGRG1adhesion G protein-coupled receptor G1 | Czasami (5–29%) | W 1 chorobie |
| ADPRSADP-ribosylserine hydrolase | Czasami (5–29%) | W 1 chorobie |
| ALADaminolevulinate dehydratase | Czasami (5–29%) | W 1 chorobie |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Czasami (5–29%) | W 1 chorobie |
| ANOS1anosmin 1 | Czasami (5–29%) | W 1 chorobie |
| ATG7autophagy related 7 | Czasami (5–29%) | W 1 chorobie |
| ATP5F1AATP synthase F1 subunit alpha | Czasami (5–29%) | W 1 chorobie |
| ATP5F1DATP synthase F1 subunit delta | Czasami (5–29%) | W 1 chorobie |
| ATP5F1EATP synthase F1 subunit epsilon | Czasami (5–29%) | W 1 chorobie |
| ATP5MKATP synthase membrane subunit k | Czasami (5–29%) | W 1 chorobie |
| ATP5POATP synthase peripheral stalk subunit OSCP | Czasami (5–29%) | W 1 chorobie |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Czasami (5–29%) | W 1 chorobie |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Czasami (5–29%) | W 1 chorobie |
| BCL11ABCL11 transcription factor A | Czasami (5–29%) | W 1 chorobie |
| BIN1bridging integrator 1 | Czasami (5–29%) | W 2 chorobach |
| BMPR1Abone morphogenetic protein receptor type 1A | Czasami (5–29%) | W 1 chorobie |
| BRCA2BRCA2 DNA repair associated | Czasami (5–29%) | W 1 chorobie |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Czasami (5–29%) | W 1 chorobie |
| CARS1cysteinyl-tRNA synthetase 1 | Czasami (5–29%) | W 2 chorobach |
| CCDC141coiled-coil domain containing 141 | Czasami (5–29%) | W 1 chorobie |
| CHD7chromodomain helicase DNA binding protein 7 | Czasami (5–29%) | W 1 chorobie |
| CHEK2checkpoint kinase 2 | Czasami (5–29%) | W 1 chorobie |
| CLIP2CAP-Gly domain containing linker protein 2 | Czasami (5–29%) | W 1 chorobie |
| CLN5CLN5 lysosomal BMP synthase | Czasami (5–29%) | W 1 chorobie |
| CLPBClpB family mitochondrial disaggregase | Czasami (5–29%) | W 1 chorobie |
| COQ4coenzyme Q4 | Czasami (5–29%) | W 1 chorobie |
| CPLX1complexin 1 | Czasami (5–29%) | W 1 chorobie |
| DBR1debranching RNA lariats 1 | Czasami (5–29%) | W 1 chorobie |
| DCCDCC netrin 1 receptor | Czasami (5–29%) | W 1 chorobie |
| DDCdopa decarboxylase | Czasami (5–29%) | W 1 chorobie |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Czasami (5–29%) | W 1 chorobie |
| DUSP6dual specificity phosphatase 6 | Czasami (5–29%) | W 1 chorobie |
| EBF3EBF transcription factor 3 | Czasami (5–29%) | W 1 chorobie |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Czasami (5–29%) | W 1 chorobie |
| EIF2B3eukaryotic translation initiation factor 2B subunit gamma | Czasami (5–29%) | W 1 chorobie |
| EIF4Heukaryotic translation initiation factor 4H | Czasami (5–29%) | W 1 chorobie |
| ELNelastin | Czasami (5–29%) | W 1 chorobie |
| EMX2empty spiracles homeobox 2 | Czasami (5–29%) | W 1 chorobie |
| EPCAMepithelial cell adhesion molecule | Czasami (5–29%) | W 1 chorobie |
| FAR1fatty acyl-CoA reductase 1 | Czasami (5–29%) | W 1 chorobie |
| FEZF1FEZ family zinc finger 1 | Czasami (5–29%) | W 1 chorobie |
| FGF17fibroblast growth factor 17 | Czasami (5–29%) | W 1 chorobie |
| FGF8fibroblast growth factor 8 | Czasami (5–29%) | W 1 chorobie |
| FGFR1fibroblast growth factor receptor 1 | Czasami (5–29%) | W 1 chorobie |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Czasami (5–29%) | W 1 chorobie |
| FLRT3fibronectin leucine rich transmembrane protein 3 | Czasami (5–29%) | W 1 chorobie |
| FTH1ferritin heavy chain 1 | Czasami (5–29%) | W 1 chorobie |
| GALCgalactosylceramidase | Czasami (5–29%) | W 1 chorobie |
| GALTgalactose-1-phosphate uridylyltransferase | Czasami (5–29%) | W 1 chorobie |
| GBF1golgi brefeldin A resistant guanine nucleotide exchange factor 1 | Czasami (5–29%) | W 1 chorobie |
| GCLCglutamate-cysteine ligase catalytic subunit | Czasami (5–29%) | W 1 chorobie |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Czasami (5–29%) | W 2 chorobach |
| GJB1gap junction protein beta 1 | Czasami (5–29%) | W 2 chorobach |
| GRIA1glutamate ionotropic receptor AMPA type subunit 1 | Czasami (5–29%) | W 1 chorobie |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Czasami (5–29%) | W 1 chorobie |
| GSNgelsolin | Czasami (5–29%) | W 1 chorobie |
| GTF2E2general transcription factor IIE subunit 2 | Czasami (5–29%) | W 1 chorobie |
| GTF2H5general transcription factor IIH subunit 5 | Czasami (5–29%) | W 1 chorobie |
| GTF2Igeneral transcription factor IIi | Czasami (5–29%) | W 1 chorobie |
| GTF2IRD1GTF2I repeat domain containing 1 | Czasami (5–29%) | W 1 chorobie |
| GTF2IRD2GTF2I repeat domain containing 2 | Czasami (5–29%) | W 1 chorobie |
| HESX1HESX homeobox 1 | Czasami (5–29%) | W 1 chorobie |
| HLA-Bmajor histocompatibility complex, class I, B | Czasami (5–29%) | W 1 chorobie |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Czasami (5–29%) | W 1 chorobie |
| HS6ST1heparan sulfate 6-O-sulfotransferase 1 | Czasami (5–29%) | W 1 chorobie |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Czasami (5–29%) | W 2 chorobach |
| IL17RDinterleukin 17 receptor D | Czasami (5–29%) | W 1 chorobie |
| JAK2Janus kinase 2 | Czasami (5–29%) | W 1 chorobie |
| KCTD17potassium channel tetramerization domain containing 17 | Czasami (5–29%) | W 1 chorobie |
| LIMK1LIM domain kinase 1 | Czasami (5–29%) | W 1 chorobie |
| LMNB1lamin B1 | Czasami (5–29%) | W 1 chorobie |
| MAP2K1mitogen-activated protein kinase kinase 1 | Czasami (5–29%) | W 2 chorobach |
| MAP2K2mitogen-activated protein kinase kinase 2 | Czasami (5–29%) | W 1 chorobie |
| METTL27methyltransferase like 27 | Czasami (5–29%) | W 1 chorobie |
| MLH1mutL homolog 1 | Czasami (5–29%) | W 1 chorobie |
| MPLMPL proto-oncogene, thrombopoietin receptor | Czasami (5–29%) | W 1 chorobie |
| MPLKIPM-phase specific PLK1 interacting protein | Czasami (5–29%) | W 1 chorobie |
| MSH2mutS homolog 2 | Czasami (5–29%) | W 1 chorobie |
| MSH6mutS homolog 6 | Czasami (5–29%) | W 1 chorobie |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Czasami (5–29%) | W 1 chorobie |
| MT-TEmitochondrially encoded tRNA-Glu (GAA/G) | Czasami (5–29%) | W 1 chorobie |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Czasami (5–29%) | W 1 chorobie |
| MTTPmicrosomal triglyceride transfer protein | Czasami (5–29%) | W 1 chorobie |
| MUTYHmutY DNA glycosylase | Czasami (5–29%) | W 1 chorobie |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Czasami (5–29%) | W 1 chorobie |
| NCF1neutrophil cytosolic factor 1 | Czasami (5–29%) | W 1 chorobie |
| NDNFneuron derived neurotrophic factor | Czasami (5–29%) | W 1 chorobie |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Czasami (5–29%) | W 1 chorobie |
| NEBnebulin | Czasami (5–29%) | W 1 chorobie |
| NEFLneurofilament light chain | Czasami (5–29%) | W 1 chorobie |
| NF2NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | Czasami (5–29%) | W 1 chorobie |
| NPATnuclear protein, coactivator of histone transcription | Czasami (5–29%) | W 1 chorobie |
| NPPAnatriuretic peptide A | Czasami (5–29%) | W 1 chorobie |
| OPA1OPA1 mitochondrial dynamin like GTPase | Czasami (5–29%) | W 1 chorobie |
| P4HA2prolyl 4-hydroxylase subunit alpha 2 | Czasami (5–29%) | W 1 chorobie |
| PACS1phosphofurin acidic cluster sorting protein 1 | Czasami (5–29%) | W 1 chorobie |
| PDGFBplatelet derived growth factor subunit B | Czasami (5–29%) | W 2 chorobach |
| PDGFRBplatelet derived growth factor receptor beta | Czasami (5–29%) | W 1 chorobie |
| PI4KAphosphatidylinositol 4-kinase alpha | Czasami (5–29%) | W 1 chorobie |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Czasami (5–29%) | W 1 chorobie |
| PMS1PMS1 homolog 1, mismatch repair system component | Czasami (5–29%) | W 1 chorobie |
| PMS2PMS1 homolog 2, mismatch repair system component | Czasami (5–29%) | W 1 chorobie |
| PNKPpolynucleotide kinase 3'-phosphatase | Czasami (5–29%) | W 1 chorobie |
| POLD1DNA polymerase delta 1, catalytic subunit | Czasami (5–29%) | W 1 chorobie |
| POLEDNA polymerase epsilon, catalytic subunit | Czasami (5–29%) | W 1 chorobie |
| POLG2DNA polymerase gamma 2, accessory subunit | Czasami (5–29%) | W 1 chorobie |
| PRKCGprotein kinase C gamma | Czasami (5–29%) | W 2 chorobach |
| PROK2prokineticin 2 | Czasami (5–29%) | W 1 chorobie |
| PROKR2prokineticin receptor 2 | Czasami (5–29%) | W 1 chorobie |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Czasami (5–29%) | W 1 chorobie |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | 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 |
| REREarginine-glutamic acid dipeptide repeats | Czasami (5–29%) | W 1 chorobie |
| RFC2replication factor C subunit 2 | Czasami (5–29%) | W 1 chorobie |
| RHOBTB2Rho related BTB domain containing 2 | Czasami (5–29%) | W 1 chorobie |
| RNF113Aring finger protein 113A | Czasami (5–29%) | W 1 chorobie |
| RPS20ribosomal protein S20 | Czasami (5–29%) | W 1 chorobie |
| RYR1ryanodine receptor 1 | Czasami (5–29%) | W 1 chorobie |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Czasami (5–29%) | W 1 chorobie |
| SCN5Asodium voltage-gated channel alpha subunit 5 | Czasami (5–29%) | W 1 chorobie |
| SEMA3Asemaphorin 3A | Czasami (5–29%) | W 1 chorobie |
| SEMA4Asemaphorin 4A | Czasami (5–29%) | W 1 chorobie |
| SH3TC2SH3 domain and tetratricopeptide repeats 2 | Czasami (5–29%) | W 1 chorobie |
| SKOR2SKI family transcriptional corepressor 2 | Czasami (5–29%) | W 1 chorobie |
| SLC1A3solute carrier family 1 member 3 | Czasami (5–29%) | W 2 chorobach |
| SLC20A2solute carrier family 20 member 2 | Czasami (5–29%) | W 1 chorobie |
| SLC25A4solute carrier family 25 member 4 | Czasami (5–29%) | W 1 chorobie |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Czasami (5–29%) | W 1 chorobie |
| SNORD118small nucleolar RNA, C/D box 118 | Czasami (5–29%) | W 2 chorobach |
| SOX10SRY-box transcription factor 10 | Czasami (5–29%) | W 1 chorobie |
| SPASTspastin | Czasami (5–29%) | W 1 chorobie |
| SPEGstriated muscle enriched protein kinase | Czasami (5–29%) | W 1 chorobie |
| SPRY4sprouty RTK signaling antagonist 4 | Czasami (5–29%) | W 1 chorobie |
| SRCAPSnf2 related CREBBP activator protein | Czasami (5–29%) | W 1 chorobie |
| SRPX2sushi repeat containing protein X-linked 2 | Czasami (5–29%) | W 2 chorobach |
| STAC3SH3 and cysteine rich domain 3 | Czasami (5–29%) | W 1 chorobie |
| STX1Asyntaxin 1A | Czasami (5–29%) | W 1 chorobie |
| SYT2synaptotagmin 2 | Czasami (5–29%) | W 1 chorobie |
| TACR3tachykinin receptor 3 | Czasami (5–29%) | W 1 chorobie |
| TARS1threonyl-tRNA synthetase 1 | Czasami (5–29%) | W 1 chorobie |
| TBL2transducin beta like 2 | Czasami (5–29%) | W 1 chorobie |
| TGFBR2transforming growth factor beta receptor 2 | Czasami (5–29%) | W 1 chorobie |
| THPOthrombopoietin | Czasami (5–29%) | W 1 chorobie |
| TMEM106Btransmembrane protein 106B | Czasami (5–29%) | W 1 chorobie |
| TMEM163transmembrane protein 163 | Czasami (5–29%) | W 1 chorobie |
| TMEM270transmembrane protein 270 | Czasami (5–29%) | W 1 chorobie |
| TPK1thiamin pyrophosphokinase 1 | Czasami (5–29%) | W 1 chorobie |
| TTNtitin | Czasami (5–29%) | W 1 chorobie |
| TUBB3tubulin beta 3 class III | Czasami (5–29%) | W 1 chorobie |
| UCHL1ubiquitin C-terminal hydrolase L1 | Czasami (5–29%) | W 1 chorobie |
| VPS37DVPS37D subunit of ESCRT-I | Czasami (5–29%) | W 1 chorobie |
| WACWW domain containing adaptor with coiled-coil | Czasami (5–29%) | W 1 chorobie |
| WDR11WD repeat domain 11 | Czasami (5–29%) | W 1 chorobie |
| WDR62WD repeat domain 62 | Czasami (5–29%) | W 1 chorobie |
| XPO1exportin 1 | Czasami (5–29%) | W 1 chorobie |
| XPR1xenotropic and polytropic retrovirus receptor 1 | Czasami (5–29%) | W 2 chorobach |
| ATL1atlastin GTPase 1 | Rzadko (1–4%) | W 1 chorobie |
| CHD3chromodomain helicase DNA binding protein 3 | Rzadko (1–4%) | W 1 chorobie |
| CIITAclass II major histocompatibility complex transactivator | Rzadko (1–4%) | W 1 chorobie |
| CYP7B1cytochrome P450 family 7 subfamily B member 1 | Rzadko (1–4%) | W 2 chorobach |
| HMGCL3-hydroxy-3-methylglutaryl-CoA lyase | Rzadko (1–4%) | W 1 chorobie |
| RFX5regulatory factor X5 | Rzadko (1–4%) | W 1 chorobie |
| RFXANKregulatory factor X associated ankyrin containing protein | Rzadko (1–4%) | W 1 chorobie |
| RFXAPregulatory factor X associated protein | Rzadko (1–4%) | W 1 chorobie |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Rzadko (1–4%) | W 1 chorobie |
| UBAP1ubiquitin associated protein 1 | Rzadko (1–4%) | W 1 chorobie |
| AAASaladin WD repeat nucleoporin | Nie odnotowano | W 1 chorobie |
| ABHD12abhydrolase domain containing 12, lysophospholipase | Nie odnotowano | W 1 chorobie |
| ADA2adenosine deaminase 2 | Nie odnotowano | W 1 chorobie |
| ADH1Calcohol dehydrogenase 1C (class I), gamma polypeptide | Nie odnotowano | W 1 chorobie |
| AMACRalpha-methylacyl-CoA racemase | Nie odnotowano | W 1 chorobie |
| AP4B1adaptor related protein complex 4 subunit beta 1 | Nie odnotowano | W 1 chorobie |
| APOEapolipoprotein E | Nie odnotowano | W 1 chorobie |
| APTXaprataxin | Nie odnotowano | W 2 chorobach |
| ATXN8ataxin 8 | Nie odnotowano | W 1 chorobie |
| ATXN8OSATXN8 opposite strand lncRNA | Nie odnotowano | W 2 chorobach |
| AUHAU RNA binding methylglutaconyl-CoA hydratase | Nie odnotowano | W 1 chorobie |
| C9orf72C9orf72-SMCR8 complex subunit | Nie odnotowano | W 1 chorobie |
| CA8carbonic anhydrase 8 (inactive) | Nie odnotowano | W 1 chorobie |
| CACNA2D2calcium voltage-gated channel auxiliary subunit alpha2delta 2 | Nie odnotowano | W 1 chorobie |
| CHRNA1cholinergic receptor nicotinic alpha 1 subunit | Nie odnotowano | W 2 chorobach |
| CHRNEcholinergic receptor nicotinic epsilon subunit | Nie odnotowano | W 1 chorobie |
| CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin | Nie odnotowano | W 1 chorobie |
| COLQcollagen like tail subunit of asymmetric acetylcholinesterase | Nie odnotowano | W 1 chorobie |
| CTC1CST telomere replication complex component 1 | Nie odnotowano | W 1 chorobie |
| DCXdoublecortin | Nie odnotowano | W 1 chorobie |
| DEGS1delta 4-desaturase, sphingolipid 1 | Nie odnotowano | W 1 chorobie |
| DRD3dopamine receptor D3 | Nie odnotowano | W 1 chorobie |
| EIF2B1eukaryotic translation initiation factor 2B subunit alpha | Nie odnotowano | W 1 chorobie |
| ERBB3erb-b2 receptor tyrosine kinase 3 | Nie odnotowano | W 1 chorobie |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Nie odnotowano | W 1 chorobie |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Nie odnotowano | W 1 chorobie |
| GANgigaxonin | Nie odnotowano | W 1 chorobie |
| GBA1glucosylceramidase beta 1 | Nie odnotowano | W 1 chorobie |
| GFPT1glutamine--fructose-6-phosphate transaminase 1 | Nie odnotowano | W 1 chorobie |
| GLRX5glutaredoxin 5 | Nie odnotowano | W 1 chorobie |
| GSSglutathione synthetase | Nie odnotowano | W 1 chorobie |
| HOXB1homeobox B1 | Nie odnotowano | W 1 chorobie |
| HPRT1hypoxanthine phosphoribosyltransferase 1 | Nie odnotowano | W 1 chorobie |
| HTRA1HtrA serine peptidase 1 | Nie odnotowano | W 1 chorobie |
| IRF2BPLinterferon regulatory factor 2 binding protein like | Nie odnotowano | W 1 chorobie |
| JPH3junctophilin 3 | Nie odnotowano | W 1 chorobie |
| MAN2B1mannosidase alpha class 2B member 1 | Nie odnotowano | W 1 chorobie |
| MED13Lmediator complex subunit 13L | Nie odnotowano | W 1 chorobie |
| MKS1MKS transition zone complex subunit 1 | Nie odnotowano | W 1 chorobie |
| MT-TTmitochondrially encoded tRNA-Thr (ACN) | Nie odnotowano | W 1 chorobie |
| MUSKmuscle associated receptor tyrosine kinase | Nie odnotowano | W 1 chorobie |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Nie odnotowano | W 1 chorobie |
| NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5 | Nie odnotowano | W 1 chorobie |
| NFASCneurofascin | 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 |
| NSUN2NOP2/Sun RNA methyltransferase 2 | Nie odnotowano | W 1 chorobie |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Nie odnotowano | W 1 chorobie |
| PABPN1poly(A) binding protein nuclear 1 | Nie odnotowano | W 1 chorobie |
| PCGF2polycomb group ring finger 2 | Nie odnotowano | W 1 chorobie |
| PCNAproliferating cell nuclear antigen | Nie odnotowano | W 1 chorobie |
| PEX2peroxisomal biogenesis factor 2 | Nie odnotowano | W 1 chorobie |
| PLD3phospholipase D family member 3 | Nie odnotowano | W 1 chorobie |
| PNKDPNKD metallo-beta-lactamase domain containing | Nie odnotowano | W 1 chorobie |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Nie odnotowano | W 1 chorobie |
| POLR3ARNA polymerase III subunit A | Nie odnotowano | W 1 chorobie |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Nie odnotowano | W 1 chorobie |
| PPP2R2Bprotein phosphatase 2 regulatory subunit Bbeta | Nie odnotowano | W 1 chorobie |
| PSEN1presenilin 1 | Nie odnotowano | W 1 chorobie |
| RAB39BRAB39B, member RAS oncogene family | Nie odnotowano | W 1 chorobie |
| RPIAribose 5-phosphate isomerase A | Nie odnotowano | W 1 chorobie |
| SERPINI1serpin family I member 1 | Nie odnotowano | W 1 chorobie |
| SLC16A2solute carrier family 16 member 2 | Nie odnotowano | W 1 chorobie |
| SLC17A5solute carrier family 17 member 5 | Nie odnotowano | W 1 chorobie |
| SLC35A1solute carrier family 35 member A1 | Nie odnotowano | W 1 chorobie |
| SLC9A1solute carrier family 9 member A1 | Nie odnotowano | W 1 chorobie |
| SMSspermine synthase | Nie odnotowano | W 1 chorobie |
| SNCAsynuclein alpha | Nie odnotowano | W 1 chorobie |
| SNCAIPsynuclein alpha interacting protein | Nie odnotowano | W 1 chorobie |
| SPRsepiapterin reductase | Nie odnotowano | W 1 chorobie |
| SUFUSUFU negative regulator of hedgehog signaling | Nie odnotowano | W 1 chorobie |
| TBC1D23TBC1 domain family member 23 | Nie odnotowano | W 1 chorobie |
| TBPTATA-box binding protein | Nie odnotowano | W 2 chorobach |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Nie odnotowano | W 1 chorobie |
| TRAPPC11trafficking protein particle complex subunit 11 | Nie odnotowano | W 1 chorobie |
| TREX1three prime repair exonuclease 1 | Nie odnotowano | W 1 chorobie |
| TRIM37tripartite motif containing 37 | Nie odnotowano | W 1 chorobie |
| TTRtransthyretin | Nie odnotowano | W 1 chorobie |
| VAMP1vesicle associated membrane protein 1 | Nie odnotowano | W 2 chorobach |
| VWA3Bvon Willebrand factor A domain containing 3B | Nie odnotowano | W 1 chorobie |
| WDR81WD repeat domain 81 | Nie odnotowano | W 1 chorobie |
| WIPI2WD repeat domain, phosphoinositide interacting 2 | Nie odnotowano | W 1 chorobie |
| ZBTB11zinc finger and BTB domain containing 11 | Nie odnotowano | W 1 chorobie |
| ZC4H2zinc finger C4H2-type containing | Nie odnotowano | W 1 chorobie |
| ZFHX3zinc finger homeobox 3 | 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.
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