Egenskap
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.
Sammendrag
- Også kalt
- Dysarthric speech
- Kroppssystem
- Abnormality of the nervous system
ReferansegenomGRCh38hg38
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Endringer i disse genene forårsaker sjeldne tilstander der Difficulty articulating speech forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| ABCA2ATP binding cassette subfamily A member 2 | Alltid | I 1 tilstand |
| ABCB7ATP binding cassette subfamily B member 7 | Alltid | I 2 tilstander |
| ACBD5acyl-CoA binding domain containing 5 | Alltid | I 1 tilstand |
| ACTBactin beta | Alltid | I 1 tilstand |
| ADCY5adenylate cyclase 5 | Alltid | I 3 tilstander |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Alltid | I 3 tilstander |
| ANO10anoctamin 10 | Alltid | I 2 tilstander |
| ATG5autophagy related 5 | Alltid | I 1 tilstand |
| ATMATM serine/threonine kinase | Alltid | I 3 tilstander |
| ATP13A2ATPase cation transporting 13A2 | Alltid | I 5 tilstander |
| ATP8A2ATPase phospholipid transporting 8A2 | Alltid | I 1 tilstand |
| ATXN10ataxin 10 | Alltid | I 2 tilstander |
| ATXN2ataxin 2 | Alltid | I 4 tilstander |
| ATXN7ataxin 7 | Alltid | I 2 tilstander |
| CAPRIN1cell cycle associated protein 1 | Alltid | I 1 tilstand |
| CBScystathionine beta-synthase | Alltid | I 1 tilstand |
| CERS1ceramide synthase 1 | Alltid | I 1 tilstand |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Alltid | I 3 tilstander |
| CLDN11claudin 11 | Alltid | I 1 tilstand |
| COA7cytochrome c oxidase assembly factor 7 | Alltid | I 1 tilstand |
| COASYCoenzyme A synthase | Alltid | I 2 tilstander |
| COX20cytochrome c oxidase assembly factor COX20 | Alltid | I 1 tilstand |
| CSF1Rcolony stimulating factor 1 receptor | Alltid | I 2 tilstander |
| CTSAcathepsin A | Alltid | I 1 tilstand |
| CWF19L1CWF19 like cell cycle control factor 1 | Alltid | I 2 tilstander |
| DMXL2Dmx like 2 | Alltid | I 2 tilstander |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Alltid | I 1 tilstand |
| DNM1Ldynamin 1L | Alltid | I 1 tilstand |
| DYNC1I2dynein cytoplasmic 1 intermediate chain 2 | Alltid | I 1 tilstand |
| EIF2AK1eukaryotic translation initiation factor 2 alpha kinase 1 | Alltid | I 1 tilstand |
| ELOVL4ELOVL fatty acid elongase 4 | Alltid | I 2 tilstander |
| EXOSC5exosome component 5 | Alltid | I 1 tilstand |
| FAT2FAT atypical cadherin 2 | Alltid | I 1 tilstand |
| FBXO7F-box protein 7 | Alltid | I 1 tilstand |
| FDXRferredoxin reductase | Alltid | I 1 tilstand |
| FEM1Bfem-1 homolog B | Alltid | I 1 tilstand |
| GFAPglial fibrillary acidic protein | Alltid | I 3 tilstander |
| GJC2gap junction protein gamma 2 | Alltid | I 3 tilstander |
| GON4Lgon-4 like | Alltid | I 1 tilstand |
| GPAA1glycosylphosphatidylinositol anchor attachment 1 | Alltid | I 2 tilstander |
Vis 561 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| GPRC5BG protein-coupled receptor class C group 5 member B | Alltid | I 1 tilstand |
| GRID2glutamate ionotropic receptor delta type subunit 2 | Alltid | I 1 tilstand |
| GRM1glutamate metabotropic receptor 1 | Alltid | I 2 tilstander |
| HEPHL1hephaestin like 1 | Alltid | I 1 tilstand |
| HYCC1hyccin PI4KA lipid kinase complex subunit 1 | Alltid | I 1 tilstand |
| JPH1junctophilin 1 | Alltid | I 1 tilstand |
| KCNA4potassium voltage-gated channel subfamily A member 4 | Alltid | I 1 tilstand |
| KCNK3potassium two pore domain channel subfamily K member 3 | Alltid | I 1 tilstand |
| KCTD7potassium channel tetramerization domain containing 7 | Alltid | I 2 tilstander |
| KDM6Alysine demethylase 6A | Alltid | I 1 tilstand |
| KIF1Ckinesin family member 1C | Alltid | I 2 tilstander |
| KMT2Dlysine methyltransferase 2D | Alltid | I 1 tilstand |
| LAMB1laminin subunit beta 1 | Alltid | I 1 tilstand |
| LRP12LDL receptor related protein 12 | Alltid | I 3 tilstander |
| LRRC7leucine rich repeat containing 7 | Alltid | I 1 tilstand |
| MAPTmicrotubule associated protein tau | Alltid | I 4 tilstander |
| MAU2MAU2 sister chromatid cohesion factor | Alltid | I 1 tilstand |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Alltid | I 2 tilstander |
| MED16mediator complex subunit 16 | Alltid | I 1 tilstand |
| MRE11MRE11 double strand break repair nuclease | Alltid | I 2 tilstander |
| MTPAPmitochondrial poly(A) polymerase | Alltid | I 2 tilstander |
| MYORGmyogenesis regulating glycosidase | Alltid | I 2 tilstander |
| NDC1NDC1 transmembrane nucleoporin | Alltid | I 1 tilstand |
| NDUFAF6NADH:ubiquinone oxidoreductase complex assembly factor 6 | Alltid | I 1 tilstand |
| NDUFS8NADH:ubiquinone oxidoreductase core subunit S8 | Alltid | I 1 tilstand |
| NKX2-1NK2 homeobox 1 | Alltid | I 3 tilstander |
| NOTCH2NLCnotch 2 N-terminal like C | Alltid | I 3 tilstander |
| NT5C25'-nucleotidase, cytosolic II | Alltid | I 1 tilstand |
| NUP54nucleoporin 54 | Alltid | I 2 tilstander |
| NUTM2B-AS1NUTM2B antisense RNA 1 | Alltid | I 1 tilstand |
| PDE8Bphosphodiesterase 8B | Alltid | I 2 tilstander |
| PEX12peroxisomal biogenesis factor 12 | Alltid | I 1 tilstand |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Alltid | I 1 tilstand |
| PIK3R5phosphoinositide-3-kinase regulatory subunit 5 | Alltid | I 1 tilstand |
| PMPCApeptidase, mitochondrial processing subunit alpha | Alltid | I 2 tilstander |
| PNPLA6patatin like domain 6, lysophospholipase | Alltid | I 1 tilstand |
| PNPLA8patatin like domain 8, phospholipase A2 | Alltid | I 1 tilstand |
| POLGDNA polymerase gamma, catalytic subunit | Alltid | I 7 tilstander |
| POLR3BRNA polymerase III subunit B | Alltid | I 3 tilstander |
| PRDX3peroxiredoxin 3 | Alltid | I 1 tilstand |
| PTRHD1peptidyl-tRNA hydrolase domain containing 1 | Alltid | I 1 tilstand |
| RFC4replication factor C subunit 4 | Alltid | I 1 tilstand |
| RNF220ring finger protein 220 | Alltid | I 1 tilstand |
| RRP12ribosomal RNA processing 12 homolog | Alltid | I 1 tilstand |
| RUBCNrubicon autophagy regulator | Alltid | I 2 tilstander |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Alltid | I 2 tilstander |
| SCO2synthesis of cytochrome C oxidase 2 | Alltid | I 2 tilstander |
| SETXsenataxin | Alltid | I 1 tilstand |
| SLC13A3solute carrier family 13 member 3 | Alltid | I 1 tilstand |
| SLC18A2solute carrier family 18 member A2 | Alltid | I 2 tilstander |
| SLC25A42solute carrier family 25 member 42 | Alltid | I 1 tilstand |
| SLC2A1solute carrier family 2 member 1 | Alltid | I 5 tilstander |
| SNAP25synaptosome associated protein 25 | Alltid | I 1 tilstand |
| SPARTspartin | Alltid | I 2 tilstander |
| SPG21SPG21 abhydrolase domain containing, maspardin | Alltid | I 1 tilstand |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Alltid | I 2 tilstander |
| SPTBN2spectrin beta, non-erythrocytic 2 | Alltid | I 2 tilstander |
| SQSTM1sequestosome 1 | Alltid | I 4 tilstander |
| STUB1STIP1 homology and U-box containing protein 1 | Alltid | I 3 tilstander |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Alltid | I 2 tilstander |
| SYNJ1synaptojanin 1 | Alltid | I 1 tilstand |
| SYT14synaptotagmin 14 | Alltid | I 2 tilstander |
| TANGO2transport and golgi organization 2 homolog | Alltid | I 1 tilstand |
| TDP1tyrosyl-DNA phosphodiesterase 1 | Alltid | I 1 tilstand |
| THAP11THAP domain containing 11 | Alltid | I 1 tilstand |
| THG1LtRNA-histidine guanylyltransferase 1 like | Alltid | I 1 tilstand |
| TMEM63Btransmembrane protein 63B | Alltid | I 1 tilstand |
| TNRtenascin R | Alltid | I 1 tilstand |
| TOP3ADNA topoisomerase III alpha | Alltid | I 1 tilstand |
| TOR1Atorsin family 1 member A | Alltid | I 1 tilstand |
| TSPOAP1TSPO associated protein 1 | Alltid | I 1 tilstand |
| TTBK2tau tubulin kinase 2 | Alltid | I 2 tilstander |
| TTPAalpha tocopherol transfer protein | Alltid | I 2 tilstander |
| TUBB4Atubulin beta 4A class IVa | Alltid | I 1 tilstand |
| UBA5ubiquitin like modifier activating enzyme 5 | Alltid | I 1 tilstand |
| UNC13Aunc-13 homolog A | Alltid | I 2 tilstander |
| VLDLRvery low density lipoprotein receptor | Alltid | I 1 tilstand |
| VPS11VPS11 core subunit of CORVET and HOPS complexes | Alltid | I 1 tilstand |
| VPS13Avacuolar protein sorting 13 homolog A | Alltid | I 2 tilstander |
| VPS41VPS41 subunit of HOPS complex | Alltid | I 2 tilstander |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Alltid | I 1 tilstand |
| WWOXWW domain containing oxidoreductase | Alltid | I 2 tilstander |
| XRCC1X-ray repair cross complementing 1 | Alltid | I 1 tilstand |
| XRCC4X-ray repair cross complementing 4 | Alltid | I 1 tilstand |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Svært ofte (80–99 %) | I 3 tilstander |
| ARandrogen receptor | Svært ofte (80–99 %) | I 2 tilstander |
| ATP7BATPase copper transporting beta | Svært ofte (80–99 %) | I 2 tilstander |
| BEAN1brain expressed associated with NEDD4 1 | Svært ofte (80–99 %) | I 2 tilstander |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Svært ofte (80–99 %) | I 2 tilstander |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Svært ofte (80–99 %) | I 2 tilstander |
| CAPN1calpain 1 | Svært ofte (80–99 %) | I 2 tilstander |
| CBLCbl proto-oncogene | Svært ofte (80–99 %) | I 1 tilstand |
| DAB1DAB adaptor protein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| DAGLAdiacylglycerol lipase alpha | Svært ofte (80–99 %) | I 1 tilstand |
| DCAF17DDB1 and CUL4 associated factor 17 | Svært ofte (80–99 %) | I 2 tilstander |
| EEF2eukaryotic translation elongation factor 2 | Svært ofte (80–99 %) | I 2 tilstander |
| ELOVL5ELOVL fatty acid elongase 5 | Svært ofte (80–99 %) | I 2 tilstander |
| FGF14fibroblast growth factor 14 | Svært ofte (80–99 %) | I 3 tilstander |
| FMR1fragile X messenger ribonucleoprotein 1 | Svært ofte (80–99 %) | I 2 tilstander |
| FXNfrataxin | Svært ofte (80–99 %) | I 3 tilstander |
| GPT2glutamic--pyruvic transaminase 2 | Svært ofte (80–99 %) | I 2 tilstander |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Svært ofte (80–99 %) | I 1 tilstand |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Svært ofte (80–99 %) | I 3 tilstander |
| KCNC3potassium voltage-gated channel subfamily C member 3 | Svært ofte (80–99 %) | I 2 tilstander |
| KCND3potassium voltage-gated channel subfamily D member 3 | Svært ofte (80–99 %) | I 2 tilstander |
| KLC2kinesin light chain 2 | Svært ofte (80–99 %) | I 2 tilstander |
| KRASKRas proto-oncogene, GTPase | Svært ofte (80–99 %) | I 3 tilstander |
| LZTR1leucine zipper like post translational regulator 1 | Svært ofte (80–99 %) | I 1 tilstand |
| MRASmuscle RAS oncogene homolog | Svært ofte (80–99 %) | I 1 tilstand |
| NIT1nitrilase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| NOP56NOP56 ribonucleoprotein | Svært ofte (80–99 %) | I 2 tilstander |
| NRASNRAS proto-oncogene, GTPase | Svært ofte (80–99 %) | I 2 tilstander |
| PANK2pantothenate kinase 2 | Svært ofte (80–99 %) | I 3 tilstander |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Svært ofte (80–99 %) | I 1 tilstand |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Svært ofte (80–99 %) | I 1 tilstand |
| RAI1retinoic acid induced 1 | Svært ofte (80–99 %) | I 1 tilstand |
| RASA2RAS p21 protein activator 2 | Svært ofte (80–99 %) | I 1 tilstand |
| RFC1replication factor C subunit 1 | Svært ofte (80–99 %) | I 2 tilstander |
| RILPL1Rab interacting lysosomal protein like 1 | Svært ofte (80–99 %) | I 1 tilstand |
| RIT1Ras like without CAAX 1 | Svært ofte (80–99 %) | I 1 tilstand |
| RNU12RNA, U12 small nuclear | Svært ofte (80–99 %) | I 2 tilstander |
| RRASRAS related | Svært ofte (80–99 %) | I 1 tilstand |
| RRAS2RAS related 2 | Svært ofte (80–99 %) | I 1 tilstand |
| SIL1SIL1 nucleotide exchange factor | Svært ofte (80–99 %) | I 2 tilstander |
| SLC19A3solute carrier family 19 member 3 | Svært ofte (80–99 %) | I 2 tilstander |
| SLC44A1solute carrier family 44 member 1 | Svært ofte (80–99 %) | I 1 tilstand |
| SNAPC4small nuclear RNA activating complex polypeptide 4 | Svært ofte (80–99 %) | I 1 tilstand |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Svært ofte (80–99 %) | I 1 tilstand |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Svært ofte (80–99 %) | I 1 tilstand |
| SPRED2sprouty related EVH1 domain containing 2 | Svært ofte (80–99 %) | I 1 tilstand |
| TGM6transglutaminase 6 | Svært ofte (80–99 %) | I 2 tilstander |
| TUBA4Atubulin alpha 4a | Svært ofte (80–99 %) | I 1 tilstand |
| UBTFupstream binding transcription factor | Svært ofte (80–99 %) | I 1 tilstand |
| UROC1urocanate hydratase 1 | Svært 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 tilstander |
| ANGangiogenin | Ofte (30–79 %) | I 1 tilstand |
| ANXA11annexin A11 | Ofte (30–79 %) | I 2 tilstander |
| AQP4aquaporin 4 | Ofte (30–79 %) | I 1 tilstand |
| ARSAarylsulfatase A | Ofte (30–79 %) | I 4 tilstander |
| ARXaristaless related homeobox | Ofte (30–79 %) | I 2 tilstander |
| ATCAYATCAY kinesin light chain interacting caytaxin | Ofte (30–79 %) | I 2 tilstander |
| ATN1atrophin 1 | Ofte (30–79 %) | I 1 tilstand |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Ofte (30–79 %) | I 3 tilstander |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Ofte (30–79 %) | I 5 tilstander |
| ATP2B3ATPase plasma membrane Ca2+ transporting 3 | Ofte (30–79 %) | I 1 tilstand |
| ATXN1ataxin 1 | Ofte (30–79 %) | I 2 tilstander |
| ATXN3ataxin 3 | Ofte (30–79 %) | I 5 tilstander |
| B4GALNT1beta-1,4-N-acetyl-galactosaminyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| C19orf12chromosome 19 open reading frame 12 | Ofte (30–79 %) | I 2 tilstander |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Ofte (30–79 %) | I 6 tilstander |
| CACNB4calcium voltage-gated channel auxiliary subunit beta 4 | Ofte (30–79 %) | I 3 tilstander |
| CAMTA1calmodulin binding transcription activator 1 | Ofte (30–79 %) | I 2 tilstander |
| CCDC88Ccoiled-coil and HOOK domain protein 88C | Ofte (30–79 %) | I 2 tilstander |
| CCNFcyclin F | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| CPceruloplasmin | Ofte (30–79 %) | I 2 tilstander |
| CSTBcystatin B | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| DCTN1dynactin subunit 1 | Ofte (30–79 %) | I 3 tilstander |
| DDHD2DDHD domain containing 2 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| FA2Hfatty acid 2-hydroxylase | Ofte (30–79 %) | I 3 tilstander |
| 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 tilstander |
| FTLferritin light chain | Ofte (30–79 %) | I 2 tilstander |
| FUSFUS RNA binding protein | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| GLB1galactosidase beta 1 | Ofte (30–79 %) | I 1 tilstand |
| GLE1GLE1 RNA export mediator | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| HHAThedgehog acyltransferase | Ofte (30–79 %) | I 1 tilstand |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Ofte (30–79 %) | I 1 tilstand |
| HPCAhippocalcin | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Ofte (30–79 %) | I 3 tilstander |
| KMT2Blysine methyltransferase 2B | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| MICOS13mitochondrial contact site and cristae organizing system subunit 13 | Ofte (30–79 %) | I 1 tilstand |
| MMEmembrane metalloendopeptidase | Ofte (30–79 %) | I 2 tilstander |
| MMUTmethylmalonyl-CoA mutase | Ofte (30–79 %) | I 1 tilstand |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Ofte (30–79 %) | I 2 tilstander |
| MTRFRmitochondrial translation release factor in rescue | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| NDUFS7NADH:ubiquinone oxidoreductase core subunit S7 | Ofte (30–79 %) | I 1 tilstand |
| NEFHneurofilament heavy chain | Ofte (30–79 %) | I 2 tilstander |
| NEK1NIMA related kinase 1 | Ofte (30–79 %) | I 2 tilstander |
| NHLRC1NHL repeat containing E3 ubiquitin protein ligase 1 | Ofte (30–79 %) | I 1 tilstand |
| NKX6-2NK6 homeobox 2 | Ofte (30–79 %) | I 2 tilstander |
| NOTCH3notch receptor 3 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| OPTNoptineurin | Ofte (30–79 %) | I 2 tilstander |
| PDE10Aphosphodiesterase 10A | Ofte (30–79 %) | I 2 tilstander |
| PDYNprodynorphin | Ofte (30–79 %) | I 2 tilstander |
| PEX10peroxisomal biogenesis factor 10 | Ofte (30–79 %) | I 2 tilstander |
| PEX16peroxisomal biogenesis factor 16 | Ofte (30–79 %) | I 1 tilstand |
| PFN1profilin 1 | Ofte (30–79 %) | I 2 tilstander |
| PGM3phosphoglucomutase 3 | Ofte (30–79 %) | I 2 tilstander |
| PLA2G6phospholipase A2 group VI | Ofte (30–79 %) | I 4 tilstander |
| PLEKHG4pleckstrin homology and RhoGEF domain containing G4 | Ofte (30–79 %) | I 1 tilstand |
| PLP1proteolipid protein 1 | Ofte (30–79 %) | I 4 tilstander |
| 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 tilstander |
| 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 tilstander |
| PRICKLE1prickle planar cell polarity protein 1 | Ofte (30–79 %) | I 2 tilstander |
| PRKRAprotein activator of interferon induced protein kinase EIF2AK2 | Ofte (30–79 %) | I 2 tilstander |
| PRNPprion protein (Kanno blood group) | Ofte (30–79 %) | I 6 tilstander |
| PRPHperipherin | Ofte (30–79 %) | I 2 tilstander |
| PRRT2proline rich transmembrane protein 2 | Ofte (30–79 %) | I 1 tilstand |
| PSAPprosaposin | Ofte (30–79 %) | I 4 tilstander |
| 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 tilstander |
| REPS1RALBP1 associated Eps domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| RNASEH1ribonuclease H1 | Ofte (30–79 %) | I 2 tilstander |
| RNF170ring finger protein 170 | Ofte (30–79 %) | I 2 tilstander |
| RNF216ring finger protein 216 | Ofte (30–79 %) | I 1 tilstand |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Ofte (30–79 %) | I 3 tilstander |
| RTTNrotatin | Ofte (30–79 %) | I 2 tilstander |
| SACSsacsin molecular chaperone | Ofte (30–79 %) | I 2 tilstander |
| SAMD9Lsterile alpha motif domain containing 9 like | Ofte (30–79 %) | I 2 tilstander |
| SATB1SATB homeobox 1 | Ofte (30–79 %) | I 2 tilstander |
| SCARB2scavenger receptor class B member 2 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| SLC7A6OSsolute carrier family 7 member 6 opposite strand | Ofte (30–79 %) | I 1 tilstand |
| SOD1superoxide dismutase 1 | Ofte (30–79 %) | I 2 tilstander |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Ofte (30–79 %) | I 3 tilstander |
| 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 tilstander |
| TBC1D24TBC1 domain family member 24 | Ofte (30–79 %) | I 3 tilstander |
| TBCEtubulin folding cofactor E | Ofte (30–79 %) | I 2 tilstander |
| TBK1TANK binding kinase 1 | Ofte (30–79 %) | I 3 tilstander |
| TECPR2tectonin beta-propeller repeat containing 2 | Ofte (30–79 %) | I 2 tilstander |
| THAP1THAP domain containing 1 | Ofte (30–79 %) | I 2 tilstander |
| TK2thymidine kinase 2 | Ofte (30–79 %) | I 1 tilstand |
| TMEM240transmembrane protein 240 | Ofte (30–79 %) | I 2 tilstander |
| TPP1tripeptidyl peptidase 1 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| UBQLN2ubiquilin 2 | Ofte (30–79 %) | I 2 tilstander |
| VAPBVAMP associated protein B and C | Ofte (30–79 %) | I 2 tilstander |
| VCPvalosin containing protein | Ofte (30–79 %) | I 4 tilstander |
| VPS13Dvacuolar protein sorting 13 homolog D | Ofte (30–79 %) | I 2 tilstander |
| WDR73WD repeat domain 73 | Ofte (30–79 %) | I 1 tilstand |
| WFS1wolframin ER transmembrane glycoprotein | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| ZNF592zinc finger protein 592 | Ofte (30–79 %) | I 1 tilstand |
| AARS1alanyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ABCD1ATP binding cassette subfamily D member 1 | Noen ganger (5–29 %) | I 2 tilstander |
| ADD3adducin 3 | Noen ganger (5–29 %) | I 1 tilstand |
| ADGRG1adhesion G protein-coupled receptor G1 | Noen ganger (5–29 %) | I 1 tilstand |
| ADPRSADP-ribosylserine hydrolase | Noen ganger (5–29 %) | I 1 tilstand |
| ALADaminolevulinate dehydratase | Noen ganger (5–29 %) | I 1 tilstand |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Noen ganger (5–29 %) | I 1 tilstand |
| ANOS1anosmin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ATG7autophagy related 7 | Noen ganger (5–29 %) | I 1 tilstand |
| ATP5F1AATP synthase F1 subunit alpha | Noen ganger (5–29 %) | I 1 tilstand |
| ATP5F1DATP synthase F1 subunit delta | Noen ganger (5–29 %) | I 1 tilstand |
| ATP5F1EATP synthase F1 subunit epsilon | Noen ganger (5–29 %) | I 1 tilstand |
| ATP5MKATP synthase membrane subunit k | Noen ganger (5–29 %) | I 1 tilstand |
| ATP5POATP synthase peripheral stalk subunit OSCP | Noen ganger (5–29 %) | I 1 tilstand |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Noen ganger (5–29 %) | I 1 tilstand |
| BCL11ABCL11 transcription factor A | Noen ganger (5–29 %) | I 1 tilstand |
| BIN1bridging integrator 1 | Noen ganger (5–29 %) | I 2 tilstander |
| BMPR1Abone morphogenetic protein receptor type 1A | Noen ganger (5–29 %) | I 1 tilstand |
| BRCA2BRCA2 DNA repair associated | Noen ganger (5–29 %) | I 1 tilstand |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Noen ganger (5–29 %) | I 1 tilstand |
| CARS1cysteinyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 2 tilstander |
| CCDC141coiled-coil domain containing 141 | Noen ganger (5–29 %) | I 1 tilstand |
| CHD7chromodomain helicase DNA binding protein 7 | Noen ganger (5–29 %) | I 1 tilstand |
| CHEK2checkpoint kinase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CLIP2CAP-Gly domain containing linker protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CLN5CLN5 lysosomal BMP synthase | Noen ganger (5–29 %) | I 1 tilstand |
| CLPBClpB family mitochondrial disaggregase | Noen ganger (5–29 %) | I 1 tilstand |
| COQ4coenzyme Q4 | Noen ganger (5–29 %) | I 1 tilstand |
| CPLX1complexin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DBR1debranching RNA lariats 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DCCDCC netrin 1 receptor | Noen ganger (5–29 %) | I 1 tilstand |
| DDCdopa decarboxylase | Noen ganger (5–29 %) | I 1 tilstand |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Noen ganger (5–29 %) | I 1 tilstand |
| DUSP6dual specificity phosphatase 6 | Noen ganger (5–29 %) | I 1 tilstand |
| EBF3EBF transcription factor 3 | Noen ganger (5–29 %) | I 1 tilstand |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Noen ganger (5–29 %) | I 1 tilstand |
| EIF2B3eukaryotic translation initiation factor 2B subunit gamma | Noen ganger (5–29 %) | I 1 tilstand |
| EIF4Heukaryotic translation initiation factor 4H | Noen ganger (5–29 %) | I 1 tilstand |
| ELNelastin | Noen ganger (5–29 %) | I 1 tilstand |
| EMX2empty spiracles homeobox 2 | Noen ganger (5–29 %) | I 1 tilstand |
| EPCAMepithelial cell adhesion molecule | Noen ganger (5–29 %) | I 1 tilstand |
| FAR1fatty acyl-CoA reductase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| FEZF1FEZ family zinc finger 1 | Noen ganger (5–29 %) | I 1 tilstand |
| FGF17fibroblast growth factor 17 | Noen ganger (5–29 %) | I 1 tilstand |
| FGF8fibroblast growth factor 8 | Noen ganger (5–29 %) | I 1 tilstand |
| FGFR1fibroblast growth factor receptor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Noen ganger (5–29 %) | I 1 tilstand |
| FLRT3fibronectin leucine rich transmembrane protein 3 | Noen ganger (5–29 %) | I 1 tilstand |
| FTH1ferritin heavy chain 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GALCgalactosylceramidase | Noen ganger (5–29 %) | I 1 tilstand |
| GALTgalactose-1-phosphate uridylyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| GBF1golgi brefeldin A resistant guanine nucleotide exchange factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GCLCglutamate-cysteine ligase catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Noen ganger (5–29 %) | I 2 tilstander |
| GJB1gap junction protein beta 1 | Noen ganger (5–29 %) | I 2 tilstander |
| GRIA1glutamate ionotropic receptor AMPA type subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Noen ganger (5–29 %) | I 1 tilstand |
| GSNgelsolin | Noen ganger (5–29 %) | I 1 tilstand |
| GTF2E2general transcription factor IIE subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| GTF2H5general transcription factor IIH subunit 5 | Noen ganger (5–29 %) | I 1 tilstand |
| GTF2Igeneral transcription factor IIi | Noen ganger (5–29 %) | I 1 tilstand |
| GTF2IRD1GTF2I repeat domain containing 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GTF2IRD2GTF2I repeat domain containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| HESX1HESX homeobox 1 | Noen ganger (5–29 %) | I 1 tilstand |
| HLA-Bmajor histocompatibility complex, class I, B | Noen ganger (5–29 %) | I 1 tilstand |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| HS6ST1heparan sulfate 6-O-sulfotransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Noen ganger (5–29 %) | I 2 tilstander |
| IL17RDinterleukin 17 receptor D | Noen ganger (5–29 %) | I 1 tilstand |
| JAK2Janus kinase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| KCTD17potassium channel tetramerization domain containing 17 | Noen ganger (5–29 %) | I 1 tilstand |
| LIMK1LIM domain kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| LMNB1lamin B1 | Noen ganger (5–29 %) | I 1 tilstand |
| MAP2K1mitogen-activated protein kinase kinase 1 | Noen ganger (5–29 %) | I 2 tilstander |
| MAP2K2mitogen-activated protein kinase kinase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| METTL27methyltransferase like 27 | Noen ganger (5–29 %) | I 1 tilstand |
| MLH1mutL homolog 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MPLMPL proto-oncogene, thrombopoietin receptor | Noen ganger (5–29 %) | I 1 tilstand |
| MPLKIPM-phase specific PLK1 interacting protein | Noen ganger (5–29 %) | I 1 tilstand |
| MSH2mutS homolog 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MSH6mutS homolog 6 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-TEmitochondrially encoded tRNA-Glu (GAA/G) | Noen ganger (5–29 %) | I 1 tilstand |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MTTPmicrosomal triglyceride transfer protein | Noen ganger (5–29 %) | I 1 tilstand |
| MUTYHmutY DNA glycosylase | Noen ganger (5–29 %) | I 1 tilstand |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| NCF1neutrophil cytosolic factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NDNFneuron derived neurotrophic factor | Noen ganger (5–29 %) | I 1 tilstand |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Noen ganger (5–29 %) | I 1 tilstand |
| NEBnebulin | Noen ganger (5–29 %) | I 1 tilstand |
| NEFLneurofilament light chain | Noen ganger (5–29 %) | I 1 tilstand |
| NF2NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | Noen ganger (5–29 %) | I 1 tilstand |
| NPATnuclear protein, coactivator of histone transcription | Noen ganger (5–29 %) | I 1 tilstand |
| NPPAnatriuretic peptide A | Noen ganger (5–29 %) | I 1 tilstand |
| OPA1OPA1 mitochondrial dynamin like GTPase | Noen ganger (5–29 %) | I 1 tilstand |
| P4HA2prolyl 4-hydroxylase subunit alpha 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PACS1phosphofurin acidic cluster sorting protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PDGFBplatelet derived growth factor subunit B | Noen ganger (5–29 %) | I 2 tilstander |
| PDGFRBplatelet derived growth factor receptor beta | Noen ganger (5–29 %) | I 1 tilstand |
| PI4KAphosphatidylinositol 4-kinase alpha | Noen ganger (5–29 %) | I 1 tilstand |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Noen ganger (5–29 %) | I 1 tilstand |
| PMS1PMS1 homolog 1, mismatch repair system component | Noen ganger (5–29 %) | I 1 tilstand |
| PMS2PMS1 homolog 2, mismatch repair system component | Noen ganger (5–29 %) | I 1 tilstand |
| PNKPpolynucleotide kinase 3'-phosphatase | Noen ganger (5–29 %) | I 1 tilstand |
| POLD1DNA polymerase delta 1, catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| POLEDNA polymerase epsilon, catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| POLG2DNA polymerase gamma 2, accessory subunit | Noen ganger (5–29 %) | I 1 tilstand |
| PRKCGprotein kinase C gamma | Noen ganger (5–29 %) | I 2 tilstander |
| PROK2prokineticin 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PROKR2prokineticin receptor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Noen ganger (5–29 %) | I 1 tilstand |
| PUS3pseudouridine synthase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| REEP1receptor accessory protein 1 | Noen ganger (5–29 %) | I 2 tilstander |
| RELREL proto-oncogene, NF-kB subunit | Noen ganger (5–29 %) | I 1 tilstand |
| REREarginine-glutamic acid dipeptide repeats | Noen ganger (5–29 %) | I 1 tilstand |
| RFC2replication factor C subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| RHOBTB2Rho related BTB domain containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| RNF113Aring finger protein 113A | Noen ganger (5–29 %) | I 1 tilstand |
| RPS20ribosomal protein S20 | Noen ganger (5–29 %) | I 1 tilstand |
| RYR1ryanodine receptor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SCN5Asodium voltage-gated channel alpha subunit 5 | Noen ganger (5–29 %) | I 1 tilstand |
| SEMA3Asemaphorin 3A | Noen ganger (5–29 %) | I 1 tilstand |
| SEMA4Asemaphorin 4A | Noen ganger (5–29 %) | I 1 tilstand |
| SH3TC2SH3 domain and tetratricopeptide repeats 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SKOR2SKI family transcriptional corepressor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC1A3solute carrier family 1 member 3 | Noen ganger (5–29 %) | I 2 tilstander |
| SLC20A2solute carrier family 20 member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC25A4solute carrier family 25 member 4 | Noen ganger (5–29 %) | I 1 tilstand |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SNORD118small nucleolar RNA, C/D box 118 | Noen ganger (5–29 %) | I 2 tilstander |
| SOX10SRY-box transcription factor 10 | Noen ganger (5–29 %) | I 1 tilstand |
| SPASTspastin | Noen ganger (5–29 %) | I 1 tilstand |
| SPEGstriated muscle enriched protein kinase | Noen ganger (5–29 %) | I 1 tilstand |
| SPRY4sprouty RTK signaling antagonist 4 | Noen ganger (5–29 %) | I 1 tilstand |
| SRCAPSnf2 related CREBBP activator protein | Noen ganger (5–29 %) | I 1 tilstand |
| SRPX2sushi repeat containing protein X-linked 2 | Noen ganger (5–29 %) | I 2 tilstander |
| STAC3SH3 and cysteine rich domain 3 | Noen ganger (5–29 %) | I 1 tilstand |
| STX1Asyntaxin 1A | Noen ganger (5–29 %) | I 1 tilstand |
| SYT2synaptotagmin 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TACR3tachykinin receptor 3 | Noen ganger (5–29 %) | I 1 tilstand |
| TARS1threonyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TBL2transducin beta like 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TGFBR2transforming growth factor beta receptor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| THPOthrombopoietin | Noen ganger (5–29 %) | I 1 tilstand |
| TMEM106Btransmembrane protein 106B | Noen ganger (5–29 %) | I 1 tilstand |
| TMEM163transmembrane protein 163 | Noen ganger (5–29 %) | I 1 tilstand |
| TMEM270transmembrane protein 270 | Noen ganger (5–29 %) | I 1 tilstand |
| TPK1thiamin pyrophosphokinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TTNtitin | Noen ganger (5–29 %) | I 1 tilstand |
| TUBB3tubulin beta 3 class III | Noen ganger (5–29 %) | I 1 tilstand |
| UCHL1ubiquitin C-terminal hydrolase L1 | Noen ganger (5–29 %) | I 1 tilstand |
| VPS37DVPS37D subunit of ESCRT-I | Noen ganger (5–29 %) | I 1 tilstand |
| WACWW domain containing adaptor with coiled-coil | Noen ganger (5–29 %) | I 1 tilstand |
| WDR11WD repeat domain 11 | Noen ganger (5–29 %) | I 1 tilstand |
| WDR62WD repeat domain 62 | Noen ganger (5–29 %) | I 1 tilstand |
| XPO1exportin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| XPR1xenotropic and polytropic retrovirus receptor 1 | Noen ganger (5–29 %) | I 2 tilstander |
| ATL1atlastin GTPase 1 | Sjelden (1–4%) | I 1 tilstand |
| CHD3chromodomain helicase DNA binding protein 3 | Sjelden (1–4%) | I 1 tilstand |
| CIITAclass II major histocompatibility complex transactivator | Sjelden (1–4%) | I 1 tilstand |
| CYP7B1cytochrome P450 family 7 subfamily B member 1 | Sjelden (1–4%) | I 2 tilstander |
| HMGCL3-hydroxy-3-methylglutaryl-CoA lyase | Sjelden (1–4%) | I 1 tilstand |
| RFX5regulatory factor X5 | Sjelden (1–4%) | I 1 tilstand |
| RFXANKregulatory factor X associated ankyrin containing protein | Sjelden (1–4%) | I 1 tilstand |
| RFXAPregulatory factor X associated protein | Sjelden (1–4%) | I 1 tilstand |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Sjelden (1–4%) | I 1 tilstand |
| UBAP1ubiquitin associated protein 1 | Sjelden (1–4%) | I 1 tilstand |
| AAASaladin WD repeat nucleoporin | Ikke registrert | I 1 tilstand |
| ABHD12abhydrolase domain containing 12, lysophospholipase | Ikke registrert | I 1 tilstand |
| ADA2adenosine deaminase 2 | Ikke registrert | I 1 tilstand |
| ADH1Calcohol dehydrogenase 1C (class I), gamma polypeptide | Ikke registrert | I 1 tilstand |
| AMACRalpha-methylacyl-CoA racemase | Ikke registrert | I 1 tilstand |
| AP4B1adaptor related protein complex 4 subunit beta 1 | Ikke registrert | I 1 tilstand |
| APOEapolipoprotein E | Ikke registrert | I 1 tilstand |
| APTXaprataxin | Ikke registrert | I 2 tilstander |
| ATXN8ataxin 8 | Ikke registrert | I 1 tilstand |
| ATXN8OSATXN8 opposite strand lncRNA | Ikke registrert | I 2 tilstander |
| AUHAU RNA binding methylglutaconyl-CoA hydratase | Ikke registrert | I 1 tilstand |
| C9orf72C9orf72-SMCR8 complex subunit | Ikke registrert | I 1 tilstand |
| CA8carbonic anhydrase 8 (inactive) | Ikke registrert | I 1 tilstand |
| CACNA2D2calcium voltage-gated channel auxiliary subunit alpha2delta 2 | Ikke registrert | I 1 tilstand |
| CHRNA1cholinergic receptor nicotinic alpha 1 subunit | Ikke registrert | I 2 tilstander |
| CHRNEcholinergic receptor nicotinic epsilon subunit | Ikke registrert | I 1 tilstand |
| CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin | Ikke registrert | I 1 tilstand |
| COLQcollagen like tail subunit of asymmetric acetylcholinesterase | Ikke registrert | I 1 tilstand |
| CTC1CST telomere replication complex component 1 | Ikke registrert | I 1 tilstand |
| DCXdoublecortin | Ikke registrert | I 1 tilstand |
| DEGS1delta 4-desaturase, sphingolipid 1 | Ikke registrert | I 1 tilstand |
| DRD3dopamine receptor D3 | Ikke registrert | I 1 tilstand |
| EIF2B1eukaryotic translation initiation factor 2B subunit alpha | Ikke registrert | I 1 tilstand |
| ERBB3erb-b2 receptor tyrosine kinase 3 | Ikke registrert | I 1 tilstand |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Ikke registrert | I 1 tilstand |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Ikke registrert | I 1 tilstand |
| GANgigaxonin | Ikke registrert | I 1 tilstand |
| GBA1glucosylceramidase beta 1 | Ikke registrert | I 1 tilstand |
| GFPT1glutamine--fructose-6-phosphate transaminase 1 | Ikke registrert | I 1 tilstand |
| GLRX5glutaredoxin 5 | Ikke registrert | I 1 tilstand |
| GSSglutathione synthetase | Ikke registrert | I 1 tilstand |
| HOXB1homeobox B1 | Ikke registrert | I 1 tilstand |
| HPRT1hypoxanthine phosphoribosyltransferase 1 | Ikke registrert | I 1 tilstand |
| HTRA1HtrA serine peptidase 1 | Ikke registrert | I 1 tilstand |
| IRF2BPLinterferon regulatory factor 2 binding protein like | Ikke registrert | I 1 tilstand |
| JPH3junctophilin 3 | Ikke registrert | I 1 tilstand |
| MAN2B1mannosidase alpha class 2B member 1 | Ikke registrert | I 1 tilstand |
| MED13Lmediator complex subunit 13L | Ikke registrert | I 1 tilstand |
| MKS1MKS transition zone complex subunit 1 | Ikke registrert | I 1 tilstand |
| MT-TTmitochondrially encoded tRNA-Thr (ACN) | Ikke registrert | I 1 tilstand |
| MUSKmuscle associated receptor tyrosine kinase | Ikke registrert | I 1 tilstand |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Ikke registrert | I 1 tilstand |
| NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5 | Ikke registrert | I 1 tilstand |
| NFASCneurofascin | Ikke registrert | I 1 tilstand |
| NPC1NPC intracellular cholesterol transporter 1 | Ikke registrert | I 1 tilstand |
| NPC2NPC intracellular cholesterol transporter 2 | Ikke registrert | I 1 tilstand |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Ikke registrert | I 1 tilstand |
| NSUN2NOP2/Sun RNA methyltransferase 2 | Ikke registrert | I 1 tilstand |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Ikke registrert | I 1 tilstand |
| PABPN1poly(A) binding protein nuclear 1 | Ikke registrert | I 1 tilstand |
| PCGF2polycomb group ring finger 2 | Ikke registrert | I 1 tilstand |
| PCNAproliferating cell nuclear antigen | Ikke registrert | I 1 tilstand |
| PEX2peroxisomal biogenesis factor 2 | Ikke registrert | I 1 tilstand |
| PLD3phospholipase D family member 3 | Ikke registrert | I 1 tilstand |
| PNKDPNKD metallo-beta-lactamase domain containing | Ikke registrert | I 1 tilstand |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Ikke registrert | I 1 tilstand |
| POLR3ARNA polymerase III subunit A | Ikke registrert | I 1 tilstand |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Ikke registrert | I 1 tilstand |
| PPP2R2Bprotein phosphatase 2 regulatory subunit Bbeta | Ikke registrert | I 1 tilstand |
| PSEN1presenilin 1 | Ikke registrert | I 1 tilstand |
| RAB39BRAB39B, member RAS oncogene family | Ikke registrert | I 1 tilstand |
| RPIAribose 5-phosphate isomerase A | Ikke registrert | I 1 tilstand |
| SERPINI1serpin family I member 1 | Ikke registrert | I 1 tilstand |
| SLC16A2solute carrier family 16 member 2 | Ikke registrert | I 1 tilstand |
| SLC17A5solute carrier family 17 member 5 | Ikke registrert | I 1 tilstand |
| SLC35A1solute carrier family 35 member A1 | Ikke registrert | I 1 tilstand |
| SLC9A1solute carrier family 9 member A1 | Ikke registrert | I 1 tilstand |
| SMSspermine synthase | Ikke registrert | I 1 tilstand |
| SNCAsynuclein alpha | Ikke registrert | I 1 tilstand |
| SNCAIPsynuclein alpha interacting protein | Ikke registrert | I 1 tilstand |
| SPRsepiapterin reductase | Ikke registrert | I 1 tilstand |
| SUFUSUFU negative regulator of hedgehog signaling | Ikke registrert | I 1 tilstand |
| TBC1D23TBC1 domain family member 23 | Ikke registrert | I 1 tilstand |
| TBPTATA-box binding protein | Ikke registrert | I 2 tilstander |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Ikke registrert | I 1 tilstand |
| TRAPPC11trafficking protein particle complex subunit 11 | Ikke registrert | I 1 tilstand |
| TREX1three prime repair exonuclease 1 | Ikke registrert | I 1 tilstand |
| TRIM37tripartite motif containing 37 | Ikke registrert | I 1 tilstand |
| TTRtransthyretin | Ikke registrert | I 1 tilstand |
| VAMP1vesicle associated membrane protein 1 | Ikke registrert | I 2 tilstander |
| VWA3Bvon Willebrand factor A domain containing 3B | Ikke registrert | I 1 tilstand |
| WDR81WD repeat domain 81 | Ikke registrert | I 1 tilstand |
| WIPI2WD repeat domain, phosphoinositide interacting 2 | Ikke registrert | I 1 tilstand |
| ZBTB11zinc finger and BTB domain containing 11 | Ikke registrert | I 1 tilstand |
| ZC4H2zinc finger C4H2-type containing | Ikke registrert | I 1 tilstand |
| ZFHX3zinc finger homeobox 3 | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
Smalere egenskaper
Bredere egenskaper
Slik er informasjonen samlet
- Human Phenotype Ontology, versjon 2026-09-01: egenskapen, navnene på den, definisjonen og genene som er knyttet til den. Les mer på hpo.jax.org.
- Datautgave 2026.10.16-c6eea6bf.
Én test. En livstid med svar.
Fra 449 $Gratis frakt · Resultater på 6–8 uker