Træk
Difficulty articulating speech
Klinisk navn: 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.
Resumé
- Også kaldet
- Dysarthric speech
- Kropssystem
- Abnormality of the nervous system
ReferencegenomGRCh38hg38
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Ændringer i disse gener forårsager sjældne tilstande, hvor Difficulty articulating speech 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 |
|---|---|---|
| ABCA2ATP binding cassette subfamily A member 2 | Altid | I 1 tilstand |
| ABCB7ATP binding cassette subfamily B member 7 | Altid | I 2 tilstande |
| ACBD5acyl-CoA binding domain containing 5 | Altid | I 1 tilstand |
| ACTBactin beta | Altid | I 1 tilstand |
| ADCY5adenylate cyclase 5 | Altid | I 3 tilstande |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Altid | I 3 tilstande |
| ANO10anoctamin 10 | Altid | I 2 tilstande |
| ATG5autophagy related 5 | Altid | I 1 tilstand |
| ATMATM serine/threonine kinase | Altid | I 3 tilstande |
| ATP13A2ATPase cation transporting 13A2 | Altid | I 5 tilstande |
| ATP8A2ATPase phospholipid transporting 8A2 | Altid | I 1 tilstand |
| ATXN10ataxin 10 | Altid | I 2 tilstande |
| ATXN2ataxin 2 | Altid | I 4 tilstande |
| ATXN7ataxin 7 | Altid | I 2 tilstande |
| CAPRIN1cell cycle associated protein 1 | Altid | I 1 tilstand |
| CBScystathionine beta-synthase | Altid | I 1 tilstand |
| CERS1ceramide synthase 1 | Altid | I 1 tilstand |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Altid | I 3 tilstande |
| CLDN11claudin 11 | Altid | I 1 tilstand |
| COA7cytochrome c oxidase assembly factor 7 | Altid | I 1 tilstand |
| COASYCoenzyme A synthase | Altid | I 2 tilstande |
| COX20cytochrome c oxidase assembly factor COX20 | Altid | I 1 tilstand |
| CSF1Rcolony stimulating factor 1 receptor | Altid | I 2 tilstande |
| CTSAcathepsin A | Altid | I 1 tilstand |
| CWF19L1CWF19 like cell cycle control factor 1 | Altid | I 2 tilstande |
| DMXL2Dmx like 2 | Altid | I 2 tilstande |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Altid | I 1 tilstand |
| DNM1Ldynamin 1L | Altid | I 1 tilstand |
| DYNC1I2dynein cytoplasmic 1 intermediate chain 2 | Altid | I 1 tilstand |
| EIF2AK1eukaryotic translation initiation factor 2 alpha kinase 1 | Altid | I 1 tilstand |
| ELOVL4ELOVL fatty acid elongase 4 | Altid | I 2 tilstande |
| EXOSC5exosome component 5 | Altid | I 1 tilstand |
| FAT2FAT atypical cadherin 2 | Altid | I 1 tilstand |
| FBXO7F-box protein 7 | Altid | I 1 tilstand |
| FDXRferredoxin reductase | Altid | I 1 tilstand |
| FEM1Bfem-1 homolog B | Altid | I 1 tilstand |
| GFAPglial fibrillary acidic protein | Altid | I 3 tilstande |
| GJC2gap junction protein gamma 2 | Altid | I 3 tilstande |
| GON4Lgon-4 like | Altid | I 1 tilstand |
| GPAA1glycosylphosphatidylinositol anchor attachment 1 | Altid | I 2 tilstande |
Vis 561 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| GPRC5BG protein-coupled receptor class C group 5 member B | Altid | I 1 tilstand |
| GRID2glutamate ionotropic receptor delta type subunit 2 | Altid | I 1 tilstand |
| GRM1glutamate metabotropic receptor 1 | Altid | I 2 tilstande |
| HEPHL1hephaestin like 1 | Altid | I 1 tilstand |
| HYCC1hyccin PI4KA lipid kinase complex subunit 1 | Altid | I 1 tilstand |
| JPH1junctophilin 1 | Altid | I 1 tilstand |
| KCNA4potassium voltage-gated channel subfamily A member 4 | Altid | I 1 tilstand |
| KCNK3potassium two pore domain channel subfamily K member 3 | Altid | I 1 tilstand |
| KCTD7potassium channel tetramerization domain containing 7 | Altid | I 2 tilstande |
| KDM6Alysine demethylase 6A | Altid | I 1 tilstand |
| KIF1Ckinesin family member 1C | Altid | I 2 tilstande |
| KMT2Dlysine methyltransferase 2D | Altid | I 1 tilstand |
| LAMB1laminin subunit beta 1 | Altid | I 1 tilstand |
| LRP12LDL receptor related protein 12 | Altid | I 3 tilstande |
| LRRC7leucine rich repeat containing 7 | Altid | I 1 tilstand |
| MAPTmicrotubule associated protein tau | Altid | I 4 tilstande |
| MAU2MAU2 sister chromatid cohesion factor | Altid | I 1 tilstand |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Altid | I 2 tilstande |
| MED16mediator complex subunit 16 | Altid | I 1 tilstand |
| MRE11MRE11 double strand break repair nuclease | Altid | I 2 tilstande |
| MTPAPmitochondrial poly(A) polymerase | Altid | I 2 tilstande |
| MYORGmyogenesis regulating glycosidase | Altid | I 2 tilstande |
| NDC1NDC1 transmembrane nucleoporin | Altid | I 1 tilstand |
| NDUFAF6NADH:ubiquinone oxidoreductase complex assembly factor 6 | Altid | I 1 tilstand |
| NDUFS8NADH:ubiquinone oxidoreductase core subunit S8 | Altid | I 1 tilstand |
| NKX2-1NK2 homeobox 1 | Altid | I 3 tilstande |
| NOTCH2NLCnotch 2 N-terminal like C | Altid | I 3 tilstande |
| NT5C25'-nucleotidase, cytosolic II | Altid | I 1 tilstand |
| NUP54nucleoporin 54 | Altid | I 2 tilstande |
| NUTM2B-AS1NUTM2B antisense RNA 1 | Altid | I 1 tilstand |
| PDE8Bphosphodiesterase 8B | Altid | I 2 tilstande |
| PEX12peroxisomal biogenesis factor 12 | Altid | I 1 tilstand |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Altid | I 1 tilstand |
| PIK3R5phosphoinositide-3-kinase regulatory subunit 5 | Altid | I 1 tilstand |
| PMPCApeptidase, mitochondrial processing subunit alpha | Altid | I 2 tilstande |
| PNPLA6patatin like domain 6, lysophospholipase | Altid | I 1 tilstand |
| PNPLA8patatin like domain 8, phospholipase A2 | Altid | I 1 tilstand |
| POLGDNA polymerase gamma, catalytic subunit | Altid | I 7 tilstande |
| POLR3BRNA polymerase III subunit B | Altid | I 3 tilstande |
| PRDX3peroxiredoxin 3 | Altid | I 1 tilstand |
| PTRHD1peptidyl-tRNA hydrolase domain containing 1 | Altid | I 1 tilstand |
| RFC4replication factor C subunit 4 | Altid | I 1 tilstand |
| RNF220ring finger protein 220 | Altid | I 1 tilstand |
| RRP12ribosomal RNA processing 12 homolog | Altid | I 1 tilstand |
| RUBCNrubicon autophagy regulator | Altid | I 2 tilstande |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Altid | I 2 tilstande |
| SCO2synthesis of cytochrome C oxidase 2 | Altid | I 2 tilstande |
| SETXsenataxin | Altid | I 1 tilstand |
| SLC13A3solute carrier family 13 member 3 | Altid | I 1 tilstand |
| SLC18A2solute carrier family 18 member A2 | Altid | I 2 tilstande |
| SLC25A42solute carrier family 25 member 42 | Altid | I 1 tilstand |
| SLC2A1solute carrier family 2 member 1 | Altid | I 5 tilstande |
| SNAP25synaptosome associated protein 25 | Altid | I 1 tilstand |
| SPARTspartin | Altid | I 2 tilstande |
| SPG21SPG21 abhydrolase domain containing, maspardin | Altid | I 1 tilstand |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Altid | I 2 tilstande |
| SPTBN2spectrin beta, non-erythrocytic 2 | Altid | I 2 tilstande |
| SQSTM1sequestosome 1 | Altid | I 4 tilstande |
| STUB1STIP1 homology and U-box containing protein 1 | Altid | I 3 tilstande |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Altid | I 2 tilstande |
| SYNJ1synaptojanin 1 | Altid | I 1 tilstand |
| SYT14synaptotagmin 14 | Altid | I 2 tilstande |
| TANGO2transport and golgi organization 2 homolog | Altid | I 1 tilstand |
| TDP1tyrosyl-DNA phosphodiesterase 1 | Altid | I 1 tilstand |
| THAP11THAP domain containing 11 | Altid | I 1 tilstand |
| THG1LtRNA-histidine guanylyltransferase 1 like | Altid | I 1 tilstand |
| TMEM63Btransmembrane protein 63B | Altid | I 1 tilstand |
| TNRtenascin R | Altid | I 1 tilstand |
| TOP3ADNA topoisomerase III alpha | Altid | I 1 tilstand |
| TOR1Atorsin family 1 member A | Altid | I 1 tilstand |
| TSPOAP1TSPO associated protein 1 | Altid | I 1 tilstand |
| TTBK2tau tubulin kinase 2 | Altid | I 2 tilstande |
| TTPAalpha tocopherol transfer protein | Altid | I 2 tilstande |
| TUBB4Atubulin beta 4A class IVa | Altid | I 1 tilstand |
| UBA5ubiquitin like modifier activating enzyme 5 | Altid | I 1 tilstand |
| UNC13Aunc-13 homolog A | Altid | I 2 tilstande |
| VLDLRvery low density lipoprotein receptor | Altid | I 1 tilstand |
| VPS11VPS11 core subunit of CORVET and HOPS complexes | Altid | I 1 tilstand |
| VPS13Avacuolar protein sorting 13 homolog A | Altid | I 2 tilstande |
| VPS41VPS41 subunit of HOPS complex | Altid | I 2 tilstande |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Altid | I 1 tilstand |
| WWOXWW domain containing oxidoreductase | Altid | I 2 tilstande |
| XRCC1X-ray repair cross complementing 1 | Altid | I 1 tilstand |
| XRCC4X-ray repair cross complementing 4 | Altid | I 1 tilstand |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Meget ofte (80–99 %) | I 3 tilstande |
| ARandrogen receptor | Meget ofte (80–99 %) | I 2 tilstande |
| ATP7BATPase copper transporting beta | Meget ofte (80–99 %) | I 2 tilstande |
| BEAN1brain expressed associated with NEDD4 1 | Meget ofte (80–99 %) | I 2 tilstande |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Meget ofte (80–99 %) | I 2 tilstande |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Meget ofte (80–99 %) | I 2 tilstande |
| CAPN1calpain 1 | Meget ofte (80–99 %) | I 2 tilstande |
| CBLCbl proto-oncogene | Meget ofte (80–99 %) | I 1 tilstand |
| DAB1DAB adaptor protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| DAGLAdiacylglycerol lipase alpha | Meget ofte (80–99 %) | I 1 tilstand |
| DCAF17DDB1 and CUL4 associated factor 17 | Meget ofte (80–99 %) | I 2 tilstande |
| EEF2eukaryotic translation elongation factor 2 | Meget ofte (80–99 %) | I 2 tilstande |
| ELOVL5ELOVL fatty acid elongase 5 | Meget ofte (80–99 %) | I 2 tilstande |
| FGF14fibroblast growth factor 14 | Meget ofte (80–99 %) | I 3 tilstande |
| FMR1fragile X messenger ribonucleoprotein 1 | Meget ofte (80–99 %) | I 2 tilstande |
| FXNfrataxin | Meget ofte (80–99 %) | I 3 tilstande |
| GPT2glutamic--pyruvic transaminase 2 | Meget ofte (80–99 %) | I 2 tilstande |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Meget ofte (80–99 %) | I 1 tilstand |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Meget ofte (80–99 %) | I 3 tilstande |
| KCNC3potassium voltage-gated channel subfamily C member 3 | Meget ofte (80–99 %) | I 2 tilstande |
| KCND3potassium voltage-gated channel subfamily D member 3 | Meget ofte (80–99 %) | I 2 tilstande |
| KLC2kinesin light chain 2 | Meget ofte (80–99 %) | I 2 tilstande |
| KRASKRas proto-oncogene, GTPase | Meget ofte (80–99 %) | I 3 tilstande |
| LZTR1leucine zipper like post translational regulator 1 | Meget ofte (80–99 %) | I 1 tilstand |
| MRASmuscle RAS oncogene homolog | Meget ofte (80–99 %) | I 1 tilstand |
| NIT1nitrilase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| NOP56NOP56 ribonucleoprotein | Meget ofte (80–99 %) | I 2 tilstande |
| NRASNRAS proto-oncogene, GTPase | Meget ofte (80–99 %) | I 2 tilstande |
| PANK2pantothenate kinase 2 | Meget ofte (80–99 %) | I 3 tilstande |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Meget ofte (80–99 %) | I 1 tilstand |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Meget ofte (80–99 %) | I 1 tilstand |
| RAI1retinoic acid induced 1 | Meget ofte (80–99 %) | I 1 tilstand |
| RASA2RAS p21 protein activator 2 | Meget ofte (80–99 %) | I 1 tilstand |
| RFC1replication factor C subunit 1 | Meget ofte (80–99 %) | I 2 tilstande |
| RILPL1Rab interacting lysosomal protein like 1 | Meget ofte (80–99 %) | I 1 tilstand |
| RIT1Ras like without CAAX 1 | Meget ofte (80–99 %) | I 1 tilstand |
| RNU12RNA, U12 small nuclear | Meget ofte (80–99 %) | I 2 tilstande |
| RRASRAS related | Meget ofte (80–99 %) | I 1 tilstand |
| RRAS2RAS related 2 | Meget ofte (80–99 %) | I 1 tilstand |
| SIL1SIL1 nucleotide exchange factor | Meget ofte (80–99 %) | I 2 tilstande |
| SLC19A3solute carrier family 19 member 3 | Meget ofte (80–99 %) | I 2 tilstande |
| SLC44A1solute carrier family 44 member 1 | Meget ofte (80–99 %) | I 1 tilstand |
| SNAPC4small nuclear RNA activating complex polypeptide 4 | Meget ofte (80–99 %) | I 1 tilstand |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Meget ofte (80–99 %) | I 1 tilstand |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Meget ofte (80–99 %) | I 1 tilstand |
| SPRED2sprouty related EVH1 domain containing 2 | Meget ofte (80–99 %) | I 1 tilstand |
| TGM6transglutaminase 6 | Meget ofte (80–99 %) | I 2 tilstande |
| TUBA4Atubulin alpha 4a | Meget ofte (80–99 %) | I 1 tilstand |
| UBTFupstream binding transcription factor | Meget ofte (80–99 %) | I 1 tilstand |
| UROC1urocanate hydratase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| AARS2alanyl-tRNA synthetase 2, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| ABCD3ATP binding cassette subfamily D member 3 | Ofte (30–79 %) | I 1 tilstand |
| ADARadenosine deaminase RNA specific | Ofte (30–79 %) | I 1 tilstand |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Ofte (30–79 %) | I 3 tilstande |
| ANGangiogenin | Ofte (30–79 %) | I 1 tilstand |
| ANXA11annexin A11 | Ofte (30–79 %) | I 2 tilstande |
| AQP4aquaporin 4 | Ofte (30–79 %) | I 1 tilstand |
| ARSAarylsulfatase A | Ofte (30–79 %) | I 4 tilstande |
| ARXaristaless related homeobox | Ofte (30–79 %) | I 2 tilstande |
| ATCAYATCAY kinesin light chain interacting caytaxin | Ofte (30–79 %) | I 2 tilstande |
| ATN1atrophin 1 | Ofte (30–79 %) | I 1 tilstand |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Ofte (30–79 %) | I 3 tilstande |
| 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 |
| ATXN1ataxin 1 | Ofte (30–79 %) | I 2 tilstande |
| ATXN3ataxin 3 | Ofte (30–79 %) | I 5 tilstande |
| B4GALNT1beta-1,4-N-acetyl-galactosaminyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| C19orf12chromosome 19 open reading frame 12 | Ofte (30–79 %) | I 2 tilstande |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Ofte (30–79 %) | I 6 tilstande |
| CACNB4calcium voltage-gated channel auxiliary subunit beta 4 | Ofte (30–79 %) | I 3 tilstande |
| CAMTA1calmodulin binding transcription activator 1 | Ofte (30–79 %) | I 2 tilstande |
| CCDC88Ccoiled-coil and HOOK domain protein 88C | Ofte (30–79 %) | I 2 tilstande |
| CCNFcyclin F | Ofte (30–79 %) | I 2 tilstande |
| CFAP410cilia and flagella associated protein 410 | Ofte (30–79 %) | I 1 tilstand |
| CHAMP1chromosome alignment maintaining phosphoprotein 1 | Ofte (30–79 %) | I 1 tilstand |
| CHMP2Bcharged multivesicular body protein 2B | Ofte (30–79 %) | I 1 tilstand |
| CISD2CDGSH iron sulfur domain 2 | Ofte (30–79 %) | I 1 tilstand |
| CMPK2cytidine/uridine monophosphate kinase 2 | Ofte (30–79 %) | I 1 tilstand |
| COA8cytochrome c oxidase assembly factor 8 | Ofte (30–79 %) | I 1 tilstand |
| COQ2coenzyme Q2, polyprenyltransferase | Ofte (30–79 %) | I 4 tilstande |
| CPceruloplasmin | Ofte (30–79 %) | I 2 tilstande |
| CSTBcystatin B | Ofte (30–79 %) | I 2 tilstande |
| CTSFcathepsin F | Ofte (30–79 %) | I 1 tilstand |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Ofte (30–79 %) | I 1 tilstand |
| DAOD-amino acid oxidase | Ofte (30–79 %) | I 1 tilstand |
| DARS1aspartyl-tRNA synthetase 1 | Ofte (30–79 %) | I 1 tilstand |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Ofte (30–79 %) | I 2 tilstande |
| DCTN1dynactin subunit 1 | Ofte (30–79 %) | I 3 tilstande |
| DDHD2DDHD domain containing 2 | Ofte (30–79 %) | I 2 tilstande |
| DLATdihydrolipoamide S-acetyltransferase | Ofte (30–79 %) | I 1 tilstand |
| DNAJB6DnaJ heat shock protein family (Hsp40) member B6 | Ofte (30–79 %) | I 1 tilstand |
| EIF2AK2eukaryotic translation initiation factor 2 alpha kinase 2 | Ofte (30–79 %) | I 1 tilstand |
| EIF2B2eukaryotic translation initiation factor 2B subunit beta | Ofte (30–79 %) | I 1 tilstand |
| EIF2B4eukaryotic translation initiation factor 2B subunit delta | Ofte (30–79 %) | I 1 tilstand |
| ELOVL1ELOVL fatty acid elongase 1 | Ofte (30–79 %) | I 1 tilstand |
| EMC10ER membrane protein complex subunit 10 | Ofte (30–79 %) | I 1 tilstand |
| ENTPD1ectonucleoside triphosphate diphosphohydrolase 1 | Ofte (30–79 %) | I 2 tilstande |
| EPM2AEPM2A glucan phosphatase, laforin | 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 |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Ofte (30–79 %) | I 2 tilstande |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Ofte (30–79 %) | I 2 tilstande |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Ofte (30–79 %) | I 1 tilstand |
| ERCC5ERCC excision repair 5, endonuclease | Ofte (30–79 %) | I 1 tilstand |
| ERLIN1ER lipid raft associated 1 | Ofte (30–79 %) | I 2 tilstande |
| FA2Hfatty acid 2-hydroxylase | Ofte (30–79 %) | I 3 tilstande |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| FBLN1fibulin 1 | Ofte (30–79 %) | I 1 tilstand |
| FBXL3F-box and leucine rich repeat protein 3 | Ofte (30–79 %) | I 1 tilstand |
| FIG4FIG4 phosphoinositide 5-phosphatase | Ofte (30–79 %) | I 1 tilstand |
| FLRT1fibronectin leucine rich transmembrane protein 1 | Ofte (30–79 %) | I 1 tilstand |
| FOXP2forkhead box P2 | Ofte (30–79 %) | I 2 tilstande |
| FTLferritin light chain | Ofte (30–79 %) | I 2 tilstande |
| FUSFUS RNA binding protein | Ofte (30–79 %) | I 2 tilstande |
| GBA2glucosylceramidase beta 2 | Ofte (30–79 %) | I 1 tilstand |
| GCDHglutaryl-CoA dehydrogenase | Ofte (30–79 %) | I 1 tilstand |
| GCH1GTP cyclohydrolase 1 | Ofte (30–79 %) | I 1 tilstand |
| GDAP2ganglioside induced differentiation associated protein 2 | Ofte (30–79 %) | I 1 tilstand |
| GJA1gap junction protein alpha 1 | Ofte (30–79 %) | I 2 tilstande |
| GLB1galactosidase beta 1 | Ofte (30–79 %) | I 1 tilstand |
| GLE1GLE1 RNA export mediator | Ofte (30–79 %) | I 2 tilstande |
| GLT8D1glycosyltransferase 8 domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| GNSglucosamine (N-acetyl)-6-sulfatase | Ofte (30–79 %) | I 1 tilstand |
| GOSR2golgi SNAP receptor complex member 2 | Ofte (30–79 %) | I 2 tilstande |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 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 3 tilstande |
| HHAThedgehog acyltransferase | Ofte (30–79 %) | I 1 tilstand |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Ofte (30–79 %) | I 1 tilstand |
| HPCAhippocalcin | Ofte (30–79 %) | I 2 tilstande |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Ofte (30–79 %) | I 1 tilstand |
| IFRD1interferon related developmental regulator 1 | Ofte (30–79 %) | I 1 tilstand |
| JAM2junctional adhesion molecule 2 | Ofte (30–79 %) | I 2 tilstande |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Ofte (30–79 %) | I 3 tilstande |
| KMT2Blysine methyltransferase 2B | Ofte (30–79 %) | I 2 tilstande |
| LYRM7LYR motif containing 7 | Ofte (30–79 %) | I 1 tilstand |
| MARS2methionyl-tRNA synthetase 2, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| MATR3matrin 3 | Ofte (30–79 %) | I 3 tilstande |
| MICOS13mitochondrial contact site and cristae organizing system subunit 13 | Ofte (30–79 %) | I 1 tilstand |
| MMEmembrane metalloendopeptidase | Ofte (30–79 %) | I 2 tilstande |
| MMUTmethylmalonyl-CoA mutase | Ofte (30–79 %) | I 1 tilstand |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Ofte (30–79 %) | I 2 tilstande |
| MTRFRmitochondrial translation release factor in rescue | Ofte (30–79 %) | I 2 tilstande |
| MVKmevalonate kinase | Ofte (30–79 %) | I 1 tilstand |
| MYOTmyotilin | Ofte (30–79 %) | I 1 tilstand |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| NAXENAD(P)HX epimerase | Ofte (30–79 %) | I 2 tilstande |
| NDUFS7NADH:ubiquinone oxidoreductase core subunit S7 | Ofte (30–79 %) | I 1 tilstand |
| NEFHneurofilament heavy chain | Ofte (30–79 %) | I 2 tilstande |
| NEK1NIMA related kinase 1 | Ofte (30–79 %) | I 2 tilstande |
| NHLRC1NHL repeat containing E3 ubiquitin protein ligase 1 | Ofte (30–79 %) | I 1 tilstand |
| NKX6-2NK6 homeobox 2 | Ofte (30–79 %) | I 2 tilstande |
| NOTCH3notch receptor 3 | Ofte (30–79 %) | I 2 tilstande |
| NUP62nucleoporin 62 | Ofte (30–79 %) | I 1 tilstand |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Ofte (30–79 %) | I 1 tilstand |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Ofte (30–79 %) | I 2 tilstande |
| OPTNoptineurin | Ofte (30–79 %) | I 2 tilstande |
| PDE10Aphosphodiesterase 10A | Ofte (30–79 %) | I 2 tilstande |
| PDYNprodynorphin | Ofte (30–79 %) | I 2 tilstande |
| PEX10peroxisomal biogenesis factor 10 | Ofte (30–79 %) | I 2 tilstande |
| PEX16peroxisomal biogenesis factor 16 | Ofte (30–79 %) | I 1 tilstand |
| PFN1profilin 1 | Ofte (30–79 %) | I 2 tilstande |
| PGM3phosphoglucomutase 3 | Ofte (30–79 %) | I 2 tilstande |
| PLA2G6phospholipase A2 group VI | Ofte (30–79 %) | I 4 tilstande |
| PLEKHG4pleckstrin homology and RhoGEF domain containing G4 | Ofte (30–79 %) | I 1 tilstand |
| PLP1proteolipid protein 1 | Ofte (30–79 %) | I 4 tilstande |
| PMM2phosphomannomutase 2 | Ofte (30–79 %) | I 1 tilstand |
| POLR3GLRNA polymerase III subunit GL | Ofte (30–79 %) | I 1 tilstand |
| POU4F1POU class 4 homeobox 1 | Ofte (30–79 %) | I 2 tilstande |
| PPFIA3PPFI scaffold protein A3 | Ofte (30–79 %) | I 1 tilstand |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Ofte (30–79 %) | I 1 tilstand |
| PRDM8PR/SET domain 8 | Ofte (30–79 %) | I 2 tilstande |
| PRICKLE1prickle planar cell polarity protein 1 | Ofte (30–79 %) | I 2 tilstande |
| PRKRAprotein activator of interferon induced protein kinase EIF2AK2 | Ofte (30–79 %) | I 2 tilstande |
| PRNPprion protein (Kanno blood group) | Ofte (30–79 %) | I 6 tilstande |
| PRPHperipherin | Ofte (30–79 %) | I 2 tilstande |
| PRRT2proline rich transmembrane protein 2 | Ofte (30–79 %) | I 1 tilstand |
| PSAPprosaposin | Ofte (30–79 %) | I 4 tilstande |
| RAB3ARAB3A, member RAS oncogene family | Ofte (30–79 %) | I 1 tilstand |
| RANBP2RAN binding protein 2 | Ofte (30–79 %) | I 1 tilstand |
| RARS1arginyl-tRNA synthetase 1 | Ofte (30–79 %) | I 2 tilstande |
| REPS1RALBP1 associated Eps domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| RNASEH1ribonuclease H1 | Ofte (30–79 %) | I 2 tilstande |
| RNF170ring finger protein 170 | Ofte (30–79 %) | I 2 tilstande |
| RNF216ring finger protein 216 | Ofte (30–79 %) | I 1 tilstand |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Ofte (30–79 %) | I 3 tilstande |
| RTTNrotatin | Ofte (30–79 %) | I 2 tilstande |
| SACSsacsin molecular chaperone | Ofte (30–79 %) | I 2 tilstande |
| SAMD9Lsterile alpha motif domain containing 9 like | Ofte (30–79 %) | I 2 tilstande |
| SATB1SATB homeobox 1 | Ofte (30–79 %) | I 2 tilstande |
| SCARB2scavenger receptor class B member 2 | Ofte (30–79 %) | I 2 tilstande |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| SELENOIselenoprotein I | Ofte (30–79 %) | I 1 tilstand |
| SLC30A10solute carrier family 30 member 10 | Ofte (30–79 %) | I 2 tilstande |
| SLC7A6OSsolute carrier family 7 member 6 opposite strand | Ofte (30–79 %) | I 1 tilstand |
| SOD1superoxide dismutase 1 | Ofte (30–79 %) | I 2 tilstande |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Ofte (30–79 %) | I 3 tilstande |
| TACO1translational activator of cytochrome c oxidase I | Ofte (30–79 %) | I 1 tilstand |
| TAF15TATA-box binding protein associated factor 15 | Ofte (30–79 %) | I 1 tilstand |
| TARDBPTAR DNA binding protein | Ofte (30–79 %) | I 3 tilstande |
| TBC1D24TBC1 domain family member 24 | Ofte (30–79 %) | I 3 tilstande |
| TBCEtubulin folding cofactor E | Ofte (30–79 %) | I 2 tilstande |
| TBK1TANK binding kinase 1 | Ofte (30–79 %) | I 3 tilstande |
| TECPR2tectonin beta-propeller repeat containing 2 | Ofte (30–79 %) | I 2 tilstande |
| THAP1THAP domain containing 1 | Ofte (30–79 %) | I 2 tilstande |
| TK2thymidine kinase 2 | Ofte (30–79 %) | I 1 tilstand |
| TMEM240transmembrane protein 240 | Ofte (30–79 %) | I 2 tilstande |
| TPP1tripeptidyl peptidase 1 | Ofte (30–79 %) | I 2 tilstande |
| TREM2triggering receptor expressed on myeloid cells 2 | Ofte (30–79 %) | I 1 tilstand |
| TTC19tetratricopeptide repeat domain 19 | Ofte (30–79 %) | I 1 tilstand |
| TWNKtwinkle mtDNA helicase | Ofte (30–79 %) | I 4 tilstande |
| UBQLN2ubiquilin 2 | Ofte (30–79 %) | I 2 tilstande |
| VAPBVAMP associated protein B and C | Ofte (30–79 %) | I 2 tilstande |
| VCPvalosin containing protein | Ofte (30–79 %) | I 4 tilstande |
| VPS13Dvacuolar protein sorting 13 homolog D | Ofte (30–79 %) | I 2 tilstande |
| WDR73WD repeat domain 73 | Ofte (30–79 %) | I 1 tilstand |
| WFS1wolframin ER transmembrane glycoprotein | Ofte (30–79 %) | I 2 tilstande |
| XKX-linked Kx blood group antigen, Kell and VPS13A binding protein | Ofte (30–79 %) | I 1 tilstand |
| ZFYVE26zinc finger FYVE-type containing 26 | Ofte (30–79 %) | I 2 tilstande |
| ZNF592zinc finger protein 592 | Ofte (30–79 %) | I 1 tilstand |
| AARS1alanyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ABCD1ATP binding cassette subfamily D member 1 | Nogle gange (5–29 %) | I 2 tilstande |
| ADD3adducin 3 | Nogle gange (5–29 %) | I 1 tilstand |
| ADGRG1adhesion G protein-coupled receptor G1 | Nogle gange (5–29 %) | I 1 tilstand |
| ADPRSADP-ribosylserine hydrolase | Nogle gange (5–29 %) | I 1 tilstand |
| ALADaminolevulinate dehydratase | Nogle gange (5–29 %) | I 1 tilstand |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Nogle gange (5–29 %) | I 1 tilstand |
| ANOS1anosmin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ATG7autophagy related 7 | Nogle gange (5–29 %) | I 1 tilstand |
| ATP5F1AATP synthase F1 subunit alpha | Nogle gange (5–29 %) | I 1 tilstand |
| ATP5F1DATP synthase F1 subunit delta | Nogle gange (5–29 %) | I 1 tilstand |
| ATP5F1EATP synthase F1 subunit epsilon | Nogle gange (5–29 %) | I 1 tilstand |
| ATP5MKATP synthase membrane subunit k | Nogle gange (5–29 %) | I 1 tilstand |
| ATP5POATP synthase peripheral stalk subunit OSCP | Nogle gange (5–29 %) | I 1 tilstand |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Nogle gange (5–29 %) | I 1 tilstand |
| BCL11ABCL11 transcription factor A | Nogle gange (5–29 %) | I 1 tilstand |
| BIN1bridging integrator 1 | Nogle gange (5–29 %) | I 2 tilstande |
| BMPR1Abone morphogenetic protein receptor type 1A | Nogle gange (5–29 %) | I 1 tilstand |
| BRCA2BRCA2 DNA repair associated | Nogle gange (5–29 %) | I 1 tilstand |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Nogle gange (5–29 %) | I 1 tilstand |
| CARS1cysteinyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 2 tilstande |
| CCDC141coiled-coil domain containing 141 | Nogle gange (5–29 %) | I 1 tilstand |
| CHD7chromodomain helicase DNA binding protein 7 | Nogle gange (5–29 %) | I 1 tilstand |
| CHEK2checkpoint kinase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| CLIP2CAP-Gly domain containing linker protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| CLN5CLN5 lysosomal BMP synthase | Nogle gange (5–29 %) | I 1 tilstand |
| CLPBClpB family mitochondrial disaggregase | Nogle gange (5–29 %) | I 1 tilstand |
| COQ4coenzyme Q4 | Nogle gange (5–29 %) | I 1 tilstand |
| CPLX1complexin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DBR1debranching RNA lariats 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DCCDCC netrin 1 receptor | Nogle gange (5–29 %) | I 1 tilstand |
| DDCdopa decarboxylase | Nogle gange (5–29 %) | I 1 tilstand |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Nogle gange (5–29 %) | I 1 tilstand |
| DUSP6dual specificity phosphatase 6 | Nogle gange (5–29 %) | I 1 tilstand |
| EBF3EBF transcription factor 3 | Nogle gange (5–29 %) | I 1 tilstand |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Nogle gange (5–29 %) | I 1 tilstand |
| EIF2B3eukaryotic translation initiation factor 2B subunit gamma | Nogle gange (5–29 %) | I 1 tilstand |
| EIF4Heukaryotic translation initiation factor 4H | Nogle gange (5–29 %) | I 1 tilstand |
| ELNelastin | Nogle gange (5–29 %) | I 1 tilstand |
| EMX2empty spiracles homeobox 2 | Nogle gange (5–29 %) | I 1 tilstand |
| EPCAMepithelial cell adhesion molecule | Nogle gange (5–29 %) | I 1 tilstand |
| FAR1fatty acyl-CoA reductase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| FEZF1FEZ family zinc finger 1 | Nogle gange (5–29 %) | I 1 tilstand |
| FGF17fibroblast growth factor 17 | Nogle gange (5–29 %) | I 1 tilstand |
| FGF8fibroblast growth factor 8 | Nogle gange (5–29 %) | I 1 tilstand |
| FGFR1fibroblast growth factor receptor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Nogle gange (5–29 %) | I 1 tilstand |
| FLRT3fibronectin leucine rich transmembrane protein 3 | Nogle gange (5–29 %) | I 1 tilstand |
| FTH1ferritin heavy chain 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GALCgalactosylceramidase | Nogle gange (5–29 %) | I 1 tilstand |
| GALTgalactose-1-phosphate uridylyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| GBF1golgi brefeldin A resistant guanine nucleotide exchange factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GCLCglutamate-cysteine ligase catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Nogle gange (5–29 %) | I 2 tilstande |
| GJB1gap junction protein beta 1 | Nogle gange (5–29 %) | I 2 tilstande |
| GRIA1glutamate ionotropic receptor AMPA type subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Nogle gange (5–29 %) | I 1 tilstand |
| GSNgelsolin | Nogle gange (5–29 %) | I 1 tilstand |
| GTF2E2general transcription factor IIE subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GTF2H5general transcription factor IIH subunit 5 | Nogle gange (5–29 %) | I 1 tilstand |
| GTF2Igeneral transcription factor IIi | Nogle gange (5–29 %) | I 1 tilstand |
| GTF2IRD1GTF2I repeat domain containing 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GTF2IRD2GTF2I repeat domain containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| HESX1HESX homeobox 1 | Nogle gange (5–29 %) | I 1 tilstand |
| HLA-Bmajor histocompatibility complex, class I, B | Nogle gange (5–29 %) | I 1 tilstand |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Nogle gange (5–29 %) | I 1 tilstand |
| HS6ST1heparan sulfate 6-O-sulfotransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Nogle gange (5–29 %) | I 2 tilstande |
| IL17RDinterleukin 17 receptor D | Nogle gange (5–29 %) | I 1 tilstand |
| JAK2Janus kinase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| KCTD17potassium channel tetramerization domain containing 17 | Nogle gange (5–29 %) | I 1 tilstand |
| LIMK1LIM domain kinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| LMNB1lamin B1 | Nogle gange (5–29 %) | I 1 tilstand |
| MAP2K1mitogen-activated protein kinase kinase 1 | Nogle gange (5–29 %) | I 2 tilstande |
| MAP2K2mitogen-activated protein kinase kinase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| METTL27methyltransferase like 27 | Nogle gange (5–29 %) | I 1 tilstand |
| MLH1mutL homolog 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MPLMPL proto-oncogene, thrombopoietin receptor | Nogle gange (5–29 %) | I 1 tilstand |
| MPLKIPM-phase specific PLK1 interacting protein | Nogle gange (5–29 %) | I 1 tilstand |
| MSH2mutS homolog 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MSH6mutS homolog 6 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-TEmitochondrially encoded tRNA-Glu (GAA/G) | Nogle gange (5–29 %) | I 1 tilstand |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MTTPmicrosomal triglyceride transfer protein | Nogle gange (5–29 %) | I 1 tilstand |
| MUTYHmutY DNA glycosylase | Nogle gange (5–29 %) | I 1 tilstand |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| NCF1neutrophil cytosolic factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NDNFneuron derived neurotrophic factor | Nogle gange (5–29 %) | I 1 tilstand |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Nogle gange (5–29 %) | I 1 tilstand |
| NEBnebulin | Nogle gange (5–29 %) | I 1 tilstand |
| NEFLneurofilament light chain | Nogle gange (5–29 %) | I 1 tilstand |
| NF2NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | Nogle gange (5–29 %) | I 1 tilstand |
| NPATnuclear protein, coactivator of histone transcription | Nogle gange (5–29 %) | I 1 tilstand |
| NPPAnatriuretic peptide A | Nogle gange (5–29 %) | I 1 tilstand |
| OPA1OPA1 mitochondrial dynamin like GTPase | Nogle gange (5–29 %) | I 1 tilstand |
| P4HA2prolyl 4-hydroxylase subunit alpha 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PACS1phosphofurin acidic cluster sorting protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PDGFBplatelet derived growth factor subunit B | Nogle gange (5–29 %) | I 2 tilstande |
| PDGFRBplatelet derived growth factor receptor beta | Nogle gange (5–29 %) | I 1 tilstand |
| PI4KAphosphatidylinositol 4-kinase alpha | Nogle gange (5–29 %) | I 1 tilstand |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Nogle gange (5–29 %) | I 1 tilstand |
| PMS1PMS1 homolog 1, mismatch repair system component | Nogle gange (5–29 %) | I 1 tilstand |
| PMS2PMS1 homolog 2, mismatch repair system component | Nogle gange (5–29 %) | I 1 tilstand |
| PNKPpolynucleotide kinase 3'-phosphatase | Nogle gange (5–29 %) | I 1 tilstand |
| POLD1DNA polymerase delta 1, catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| POLEDNA polymerase epsilon, catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| POLG2DNA polymerase gamma 2, accessory subunit | Nogle gange (5–29 %) | I 1 tilstand |
| PRKCGprotein kinase C gamma | Nogle gange (5–29 %) | I 2 tilstande |
| PROK2prokineticin 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PROKR2prokineticin receptor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | 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 |
| REREarginine-glutamic acid dipeptide repeats | Nogle gange (5–29 %) | I 1 tilstand |
| RFC2replication factor C subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| RHOBTB2Rho related BTB domain containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| RNF113Aring finger protein 113A | Nogle gange (5–29 %) | I 1 tilstand |
| RPS20ribosomal protein S20 | Nogle gange (5–29 %) | I 1 tilstand |
| RYR1ryanodine receptor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SCN5Asodium voltage-gated channel alpha subunit 5 | Nogle gange (5–29 %) | I 1 tilstand |
| SEMA3Asemaphorin 3A | Nogle gange (5–29 %) | I 1 tilstand |
| SEMA4Asemaphorin 4A | Nogle gange (5–29 %) | I 1 tilstand |
| SH3TC2SH3 domain and tetratricopeptide repeats 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SKOR2SKI family transcriptional corepressor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC1A3solute carrier family 1 member 3 | Nogle gange (5–29 %) | I 2 tilstande |
| 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 |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SNORD118small nucleolar RNA, C/D box 118 | Nogle gange (5–29 %) | I 2 tilstande |
| SOX10SRY-box transcription factor 10 | Nogle gange (5–29 %) | I 1 tilstand |
| SPASTspastin | Nogle gange (5–29 %) | I 1 tilstand |
| SPEGstriated muscle enriched protein kinase | Nogle gange (5–29 %) | I 1 tilstand |
| SPRY4sprouty RTK signaling antagonist 4 | Nogle gange (5–29 %) | I 1 tilstand |
| SRCAPSnf2 related CREBBP activator protein | Nogle gange (5–29 %) | I 1 tilstand |
| SRPX2sushi repeat containing protein X-linked 2 | Nogle gange (5–29 %) | I 2 tilstande |
| STAC3SH3 and cysteine rich domain 3 | Nogle gange (5–29 %) | I 1 tilstand |
| STX1Asyntaxin 1A | Nogle gange (5–29 %) | I 1 tilstand |
| SYT2synaptotagmin 2 | Nogle gange (5–29 %) | I 1 tilstand |
| TACR3tachykinin receptor 3 | Nogle gange (5–29 %) | I 1 tilstand |
| TARS1threonyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TBL2transducin beta like 2 | Nogle gange (5–29 %) | I 1 tilstand |
| TGFBR2transforming growth factor beta receptor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| THPOthrombopoietin | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM106Btransmembrane protein 106B | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM163transmembrane protein 163 | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM270transmembrane protein 270 | Nogle gange (5–29 %) | I 1 tilstand |
| TPK1thiamin pyrophosphokinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TTNtitin | Nogle gange (5–29 %) | I 1 tilstand |
| TUBB3tubulin beta 3 class III | Nogle gange (5–29 %) | I 1 tilstand |
| UCHL1ubiquitin C-terminal hydrolase L1 | Nogle gange (5–29 %) | I 1 tilstand |
| VPS37DVPS37D subunit of ESCRT-I | Nogle gange (5–29 %) | I 1 tilstand |
| WACWW domain containing adaptor with coiled-coil | Nogle gange (5–29 %) | I 1 tilstand |
| WDR11WD repeat domain 11 | Nogle gange (5–29 %) | I 1 tilstand |
| WDR62WD repeat domain 62 | 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 2 tilstande |
| ATL1atlastin GTPase 1 | Sjældent (1–4%) | I 1 tilstand |
| CHD3chromodomain helicase DNA binding protein 3 | Sjældent (1–4%) | I 1 tilstand |
| CIITAclass II major histocompatibility complex transactivator | Sjældent (1–4%) | I 1 tilstand |
| CYP7B1cytochrome P450 family 7 subfamily B member 1 | Sjældent (1–4%) | I 2 tilstande |
| HMGCL3-hydroxy-3-methylglutaryl-CoA lyase | Sjældent (1–4%) | I 1 tilstand |
| RFX5regulatory factor X5 | Sjældent (1–4%) | I 1 tilstand |
| RFXANKregulatory factor X associated ankyrin containing protein | Sjældent (1–4%) | I 1 tilstand |
| RFXAPregulatory factor X associated protein | Sjældent (1–4%) | I 1 tilstand |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Sjældent (1–4%) | I 1 tilstand |
| UBAP1ubiquitin associated protein 1 | Sjældent (1–4%) | I 1 tilstand |
| AAASaladin WD repeat nucleoporin | Ikke registreret | I 1 tilstand |
| ABHD12abhydrolase domain containing 12, lysophospholipase | Ikke registreret | I 1 tilstand |
| ADA2adenosine deaminase 2 | Ikke registreret | I 1 tilstand |
| ADH1Calcohol dehydrogenase 1C (class I), gamma polypeptide | Ikke registreret | I 1 tilstand |
| AMACRalpha-methylacyl-CoA racemase | Ikke registreret | I 1 tilstand |
| AP4B1adaptor related protein complex 4 subunit beta 1 | Ikke registreret | I 1 tilstand |
| APOEapolipoprotein E | Ikke registreret | I 1 tilstand |
| APTXaprataxin | Ikke registreret | I 2 tilstande |
| ATXN8ataxin 8 | Ikke registreret | I 1 tilstand |
| ATXN8OSATXN8 opposite strand lncRNA | Ikke registreret | I 2 tilstande |
| AUHAU RNA binding methylglutaconyl-CoA hydratase | Ikke registreret | I 1 tilstand |
| C9orf72C9orf72-SMCR8 complex subunit | Ikke registreret | I 1 tilstand |
| CA8carbonic anhydrase 8 (inactive) | Ikke registreret | I 1 tilstand |
| CACNA2D2calcium voltage-gated channel auxiliary subunit alpha2delta 2 | Ikke registreret | I 1 tilstand |
| CHRNA1cholinergic receptor nicotinic alpha 1 subunit | Ikke registreret | I 2 tilstande |
| CHRNEcholinergic receptor nicotinic epsilon subunit | Ikke registreret | I 1 tilstand |
| CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin | Ikke registreret | I 1 tilstand |
| COLQcollagen like tail subunit of asymmetric acetylcholinesterase | Ikke registreret | I 1 tilstand |
| CTC1CST telomere replication complex component 1 | Ikke registreret | I 1 tilstand |
| DCXdoublecortin | Ikke registreret | I 1 tilstand |
| DEGS1delta 4-desaturase, sphingolipid 1 | Ikke registreret | I 1 tilstand |
| DRD3dopamine receptor D3 | Ikke registreret | I 1 tilstand |
| EIF2B1eukaryotic translation initiation factor 2B subunit alpha | Ikke registreret | I 1 tilstand |
| ERBB3erb-b2 receptor tyrosine kinase 3 | Ikke registreret | I 1 tilstand |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Ikke registreret | I 1 tilstand |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Ikke registreret | I 1 tilstand |
| GANgigaxonin | Ikke registreret | I 1 tilstand |
| GBA1glucosylceramidase beta 1 | Ikke registreret | I 1 tilstand |
| GFPT1glutamine--fructose-6-phosphate transaminase 1 | Ikke registreret | I 1 tilstand |
| GLRX5glutaredoxin 5 | Ikke registreret | I 1 tilstand |
| GSSglutathione synthetase | Ikke registreret | I 1 tilstand |
| HOXB1homeobox B1 | Ikke registreret | I 1 tilstand |
| HPRT1hypoxanthine phosphoribosyltransferase 1 | Ikke registreret | I 1 tilstand |
| HTRA1HtrA serine peptidase 1 | Ikke registreret | I 1 tilstand |
| IRF2BPLinterferon regulatory factor 2 binding protein like | Ikke registreret | I 1 tilstand |
| JPH3junctophilin 3 | Ikke registreret | I 1 tilstand |
| MAN2B1mannosidase alpha class 2B member 1 | Ikke registreret | I 1 tilstand |
| MED13Lmediator complex subunit 13L | Ikke registreret | I 1 tilstand |
| MKS1MKS transition zone complex subunit 1 | Ikke registreret | I 1 tilstand |
| MT-TTmitochondrially encoded tRNA-Thr (ACN) | Ikke registreret | I 1 tilstand |
| MUSKmuscle associated receptor tyrosine kinase | Ikke registreret | I 1 tilstand |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Ikke registreret | I 1 tilstand |
| NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5 | Ikke registreret | I 1 tilstand |
| NFASCneurofascin | 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 |
| NSUN2NOP2/Sun RNA methyltransferase 2 | Ikke registreret | I 1 tilstand |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Ikke registreret | I 1 tilstand |
| PABPN1poly(A) binding protein nuclear 1 | Ikke registreret | I 1 tilstand |
| PCGF2polycomb group ring finger 2 | Ikke registreret | I 1 tilstand |
| PCNAproliferating cell nuclear antigen | Ikke registreret | I 1 tilstand |
| PEX2peroxisomal biogenesis factor 2 | Ikke registreret | I 1 tilstand |
| PLD3phospholipase D family member 3 | Ikke registreret | I 1 tilstand |
| PNKDPNKD metallo-beta-lactamase domain containing | Ikke registreret | I 1 tilstand |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Ikke registreret | I 1 tilstand |
| POLR3ARNA polymerase III subunit A | Ikke registreret | I 1 tilstand |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Ikke registreret | I 1 tilstand |
| PPP2R2Bprotein phosphatase 2 regulatory subunit Bbeta | Ikke registreret | I 1 tilstand |
| PSEN1presenilin 1 | Ikke registreret | I 1 tilstand |
| RAB39BRAB39B, member RAS oncogene family | Ikke registreret | I 1 tilstand |
| RPIAribose 5-phosphate isomerase A | Ikke registreret | I 1 tilstand |
| SERPINI1serpin family I member 1 | Ikke registreret | I 1 tilstand |
| SLC16A2solute carrier family 16 member 2 | Ikke registreret | I 1 tilstand |
| SLC17A5solute carrier family 17 member 5 | Ikke registreret | I 1 tilstand |
| SLC35A1solute carrier family 35 member A1 | Ikke registreret | I 1 tilstand |
| SLC9A1solute carrier family 9 member A1 | Ikke registreret | I 1 tilstand |
| SMSspermine synthase | Ikke registreret | I 1 tilstand |
| SNCAsynuclein alpha | Ikke registreret | I 1 tilstand |
| SNCAIPsynuclein alpha interacting protein | Ikke registreret | I 1 tilstand |
| SPRsepiapterin reductase | Ikke registreret | I 1 tilstand |
| SUFUSUFU negative regulator of hedgehog signaling | Ikke registreret | I 1 tilstand |
| TBC1D23TBC1 domain family member 23 | Ikke registreret | I 1 tilstand |
| TBPTATA-box binding protein | Ikke registreret | I 2 tilstande |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Ikke registreret | I 1 tilstand |
| TRAPPC11trafficking protein particle complex subunit 11 | Ikke registreret | I 1 tilstand |
| TREX1three prime repair exonuclease 1 | Ikke registreret | I 1 tilstand |
| TRIM37tripartite motif containing 37 | Ikke registreret | I 1 tilstand |
| TTRtransthyretin | Ikke registreret | I 1 tilstand |
| VAMP1vesicle associated membrane protein 1 | Ikke registreret | I 2 tilstande |
| VWA3Bvon Willebrand factor A domain containing 3B | Ikke registreret | I 1 tilstand |
| WDR81WD repeat domain 81 | Ikke registreret | I 1 tilstand |
| WIPI2WD repeat domain, phosphoinositide interacting 2 | Ikke registreret | I 1 tilstand |
| ZBTB11zinc finger and BTB domain containing 11 | Ikke registreret | I 1 tilstand |
| ZC4H2zinc finger C4H2-type containing | Ikke registreret | I 1 tilstand |
| ZFHX3zinc finger homeobox 3 | 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.
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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