Egenskap
Involuntary muscle stiffness, contraction, or spasm
Klinisk navn: Spasticity
A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
Sammendrag
- Også kalt
- Muscle spasticity, Muscular spasticity
ReferansegenomGRCh38hg38
Posisjoner på gen- og variantsidene følger dette valget i denne nettleseren.
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Endringer i disse genene forårsaker sjeldne tilstander der Involuntary muscle stiffness, contraction, or spasm 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 |
|---|---|---|
| AARS1alanyl-tRNA synthetase 1 | Alltid | I 4 tilstander |
| ABCB1ATP binding cassette subfamily B member 1 | Alltid | I 1 tilstand |
| ADD3adducin 3 | Alltid | I 1 tilstand |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Alltid | I 5 tilstander |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Alltid | I 2 tilstander |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Alltid | I 2 tilstander |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Alltid | I 3 tilstander |
| AMPD2adenosine monophosphate deaminase 2 | Alltid | I 2 tilstander |
| ANK3ankyrin 3 | Alltid | I 2 tilstander |
| ANKLE2ankyrin repeat and LEM domain containing 2 | Alltid | I 1 tilstand |
| AP1G1adaptor related protein complex 1 subunit gamma 1 | Alltid | I 2 tilstander |
| AP4B1adaptor related protein complex 4 subunit beta 1 | Alltid | I 2 tilstander |
| ARL6IP1ARL6 interacting reticulophagy regulator 1 | Alltid | I 2 tilstander |
| ARNT2aryl hydrocarbon receptor nuclear translocator 2 | Alltid | I 1 tilstand |
| ATAD3AATPase family AAA domain containing 3A | Alltid | I 3 tilstander |
| ATP6AP2ATPase H+ transporting accessory protein 2 | Alltid | I 3 tilstander |
| C19orf12chromosome 19 open reading frame 12 | Alltid | I 2 tilstander |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Alltid | I 2 tilstander |
| CAMK2Acalcium/calmodulin dependent protein kinase II alpha | Alltid | I 1 tilstand |
| CHP1calcineurin like EF-hand protein 1 | Alltid | I 1 tilstand |
| COL4A2collagen type IV alpha 2 chain | Alltid | I 1 tilstand |
| COPB2coat protein complex I subunit beta 2 | Alltid | I 2 tilstander |
| COX8Acytochrome c oxidase subunit 8A | Alltid | I 1 tilstand |
| CST3cystatin C | Alltid | I 1 tilstand |
| DHCR2424-dehydrocholesterol reductase | Alltid | I 2 tilstander |
| DSTdystonin | Alltid | I 1 tilstand |
| EIF2B2eukaryotic translation initiation factor 2B subunit beta | Alltid | I 1 tilstand |
| EIF2B4eukaryotic translation initiation factor 2B subunit delta | Alltid | I 1 tilstand |
| EIF4A2eukaryotic translation initiation factor 4A2 | Alltid | I 1 tilstand |
| ELOVL1ELOVL fatty acid elongase 1 | Alltid | I 1 tilstand |
| ENTPD1ectonucleoside triphosphate diphosphohydrolase 1 | Alltid | I 2 tilstander |
| ERLIN1ER lipid raft associated 1 | Alltid | I 1 tilstand |
| ESAMendothelial cell adhesion molecule | Alltid | I 1 tilstand |
| EXOC8exocyst complex component 8 | Alltid | I 1 tilstand |
| FAR1fatty acyl-CoA reductase 1 | Alltid | I 1 tilstand |
| FEM1Bfem-1 homolog B | Alltid | I 1 tilstand |
| FZR1fizzy and cell division cycle 20 related 1 | Alltid | I 2 tilstander |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Alltid | I 2 tilstander |
| GPRC5BG protein-coupled receptor class C group 5 member B | Alltid | I 2 tilstander |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Alltid | I 4 tilstander |
Vis 670 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| GTF3C3general transcription factor IIIC subunit 3 | Alltid | I 1 tilstand |
| HIVEP2HIVEP zinc finger 2 | Alltid | I 1 tilstand |
| IREB2iron responsive element binding protein 2 | Alltid | I 1 tilstand |
| ISCA1iron-sulfur cluster assembly 1 | Alltid | I 2 tilstander |
| ISCA2iron-sulfur cluster assembly 2 | Alltid | I 1 tilstand |
| JAM3junctional adhesion molecule 3 | Alltid | I 1 tilstand |
| KDM2Blysine demethylase 2B | Alltid | I 1 tilstand |
| KIF1Akinesin family member 1A | Alltid | I 2 tilstander |
| KLC4kinesin light chain 4 | Alltid | I 1 tilstand |
| LGI1leucine rich glioma inactivated 1 | Alltid | I 2 tilstander |
| LSM7LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated | Alltid | I 1 tilstand |
| LYRM7LYR motif containing 7 | Alltid | I 1 tilstand |
| MAGmyelin associated glycoprotein | Alltid | I 2 tilstander |
| MARS1methionyl-tRNA synthetase 1 | Alltid | I 1 tilstand |
| MARS2methionyl-tRNA synthetase 2, mitochondrial | Alltid | I 2 tilstander |
| MAU2MAU2 sister chromatid cohesion factor | Alltid | I 1 tilstand |
| MCEEmethylmalonyl-CoA epimerase | Alltid | I 1 tilstand |
| MED17mediator complex subunit 17 | Alltid | I 1 tilstand |
| MED23mediator complex subunit 23 | Alltid | I 1 tilstand |
| MFFmitochondrial fission factor | Alltid | I 2 tilstander |
| MTHFSmethenyltetrahydrofolate synthetase | Alltid | I 1 tilstand |
| NADK2NAD kinase 2, mitochondrial | Alltid | I 1 tilstand |
| NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5 | Alltid | I 1 tilstand |
| NIT1nitrilase 1 | Alltid | I 1 tilstand |
| NKX6-2NK6 homeobox 2 | Alltid | I 1 tilstand |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Alltid | I 1 tilstand |
| PCYT2phosphate cytidylyltransferase 2, ethanolamine | Alltid | I 1 tilstand |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Alltid | I 1 tilstand |
| PI4K2Aphosphatidylinositol 4-kinase type 2 alpha | Alltid | I 1 tilstand |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Alltid | I 2 tilstander |
| PLCB1phospholipase C beta 1 | Alltid | I 1 tilstand |
| PNPLA8patatin like domain 8, phospholipase A2 | Alltid | I 1 tilstand |
| POLR1ARNA polymerase I subunit A | Alltid | I 1 tilstand |
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Alltid | I 1 tilstand |
| PTPN23protein tyrosine phosphatase non-receptor type 23 | Alltid | I 1 tilstand |
| PTRHD1peptidyl-tRNA hydrolase domain containing 1 | Alltid | I 1 tilstand |
| RAD50RAD50 double strand break repair protein | Alltid | I 1 tilstand |
| REEP2receptor accessory protein 2 | Alltid | I 2 tilstander |
| RETREG1reticulophagy regulator 1 | Alltid | I 1 tilstand |
| SCYL2SCY1 like pseudokinase 2 | Alltid | I 1 tilstand |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Alltid | I 1 tilstand |
| SLC1A4solute carrier family 1 member 4 | Alltid | I 1 tilstand |
| SLC25A10solute carrier family 25 member 10 | Alltid | I 1 tilstand |
| SLC25A12solute carrier family 25 member 12 | Alltid | I 1 tilstand |
| SLC25A22solute carrier family 25 member 22 | Alltid | I 2 tilstander |
| SNAPC4small nuclear RNA activating complex polypeptide 4 | Alltid | I 1 tilstand |
| SPOUT1SPOUT domain containing methyltransferase 1 | Alltid | I 1 tilstand |
| SPRsepiapterin reductase | Alltid | I 1 tilstand |
| TAF4TATA-box binding protein associated factor 4 | Alltid | I 1 tilstand |
| TBC1D23TBC1 domain family member 23 | Alltid | I 1 tilstand |
| TBCBtubulin folding cofactor B | Alltid | I 1 tilstand |
| TBCEtubulin folding cofactor E | Alltid | I 1 tilstand |
| TCTN2tectonic family member 2 | Alltid | I 1 tilstand |
| TPRKBTP53RK binding protein | Alltid | I 1 tilstand |
| TREX1three prime repair exonuclease 1 | Alltid | I 2 tilstander |
| TRIT1tRNA isopentenyltransferase 1 | Alltid | I 1 tilstand |
| TRMT5tRNA methyltransferase 5 | Alltid | I 1 tilstand |
| TSEN2tRNA splicing endonuclease subunit 2 | Alltid | I 2 tilstander |
| TUBB4Atubulin beta 4A class IVa | Alltid | I 1 tilstand |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Alltid | I 1 tilstand |
| VPS53VPS53 subunit of GARP complex | Alltid | I 1 tilstand |
| WWOXWW domain containing oxidoreductase | Alltid | I 2 tilstander |
| YIF1BYip1 interacting factor homolog B, membrane trafficking protein | Alltid | I 1 tilstand |
| ZBTB11zinc finger and BTB domain containing 11 | Alltid | I 1 tilstand |
| ADARadenosine deaminase RNA specific | Svært ofte (80–99 %) | I 2 tilstander |
| AP4E1adaptor related protein complex 4 subunit epsilon 1 | Svært ofte (80–99 %) | I 2 tilstander |
| ARXaristaless related homeobox | Svært ofte (80–99 %) | I 5 tilstander |
| ATAD1ATPase family AAA domain containing 1 | Svært ofte (80–99 %) | I 1 tilstand |
| ATP7AATPase copper transporting alpha | Svært ofte (80–99 %) | I 1 tilstand |
| BCAS3BCAS3 microtubule associated cell migration factor | Svært ofte (80–99 %) | I 1 tilstand |
| CCT5chaperonin containing TCP1 subunit 5 | Svært ofte (80–99 %) | I 1 tilstand |
| CTNNB1catenin beta 1 | Svært ofte (80–99 %) | I 2 tilstander |
| DEGS1delta 4-desaturase, sphingolipid 1 | Svært ofte (80–99 %) | I 1 tilstand |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Svært ofte (80–99 %) | I 4 tilstander |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Svært ofte (80–99 %) | I 3 tilstander |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Svært ofte (80–99 %) | I 2 tilstander |
| ERCC5ERCC excision repair 5, endonuclease | Svært ofte (80–99 %) | I 3 tilstander |
| ERLIN2ER lipid raft associated 2 | Svært ofte (80–99 %) | I 2 tilstander |
| EXOSC5exosome component 5 | Svært ofte (80–99 %) | I 1 tilstand |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Svært ofte (80–99 %) | I 2 tilstander |
| GALCgalactosylceramidase | Svært ofte (80–99 %) | I 2 tilstander |
| GBA1glucosylceramidase beta 1 | Svært ofte (80–99 %) | I 2 tilstander |
| GBA2glucosylceramidase beta 2 | Svært ofte (80–99 %) | I 1 tilstand |
| GBE11,4-alpha-glucan branching enzyme 1 | Svært ofte (80–99 %) | I 1 tilstand |
| GLRA1glycine receptor alpha 1 | Svært ofte (80–99 %) | I 1 tilstand |
| GLRBglycine receptor beta | Svært ofte (80–99 %) | I 1 tilstand |
| GPHNgephyrin | Svært ofte (80–99 %) | I 1 tilstand |
| HPRT1hypoxanthine phosphoribosyltransferase 1 | Svært ofte (80–99 %) | I 2 tilstander |
| IFIH1interferon induced with helicase C domain 1 | Svært ofte (80–99 %) | I 1 tilstand |
| L1CAML1 cell adhesion molecule | Svært ofte (80–99 %) | I 4 tilstander |
| LSM11LSM11, U7 small nuclear RNA associated | Svært ofte (80–99 %) | I 1 tilstand |
| MED27mediator complex subunit 27 | Svært ofte (80–99 %) | I 1 tilstand |
| NAGAalpha-N-acetylgalactosaminidase | Svært ofte (80–99 %) | I 2 tilstander |
| NSD1nuclear receptor binding SET domain protein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| OCLNoccludin | Svært ofte (80–99 %) | I 2 tilstander |
| PLP1proteolipid protein 1 | Svært ofte (80–99 %) | I 2 tilstander |
| PSAPprosaposin | Svært ofte (80–99 %) | I 4 tilstander |
| RAB18RAB18, member RAS oncogene family | Svært ofte (80–99 %) | I 1 tilstand |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Svært ofte (80–99 %) | I 1 tilstand |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Svært ofte (80–99 %) | I 1 tilstand |
| RNASEH2Aribonuclease H2 subunit A | Svært ofte (80–99 %) | I 2 tilstander |
| RNASEH2Bribonuclease H2 subunit B | Svært ofte (80–99 %) | I 1 tilstand |
| RNASEH2Cribonuclease H2 subunit C | Svært ofte (80–99 %) | I 2 tilstander |
| RNASET2ribonuclease T2 | Svært ofte (80–99 %) | I 1 tilstand |
| RNU4ATACRNA, U4atac small nuclear | Svært ofte (80–99 %) | I 1 tilstand |
| RNU7-1RNA, U7 small nuclear 1 | Svært ofte (80–99 %) | I 2 tilstander |
| ROGDIrogdi atypical leucine zipper | Svært ofte (80–99 %) | I 2 tilstander |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Svært ofte (80–99 %) | I 2 tilstander |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Svært ofte (80–99 %) | I 2 tilstander |
| SERAC1serine active site containing 1 | Svært ofte (80–99 %) | I 1 tilstand |
| SLC13A5solute carrier family 13 member 5 | Svært ofte (80–99 %) | I 3 tilstander |
| SLC2A1solute carrier family 2 member 1 | Svært ofte (80–99 %) | I 3 tilstander |
| SLC6A5solute carrier family 6 member 5 | Svært ofte (80–99 %) | I 1 tilstand |
| SOX10SRY-box transcription factor 10 | Svært ofte (80–99 %) | I 2 tilstander |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Svært ofte (80–99 %) | I 1 tilstand |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Svært ofte (80–99 %) | I 1 tilstand |
| SVBPsmall vasohibin binding protein | Svært ofte (80–99 %) | I 1 tilstand |
| TBC1D20TBC1 domain family member 20 | Svært ofte (80–99 %) | I 1 tilstand |
| TBCDtubulin folding cofactor D | Svært ofte (80–99 %) | I 1 tilstand |
| TFGtrafficking from ER to golgi regulator | Svært ofte (80–99 %) | I 1 tilstand |
| TNRtenascin R | Svært ofte (80–99 %) | I 1 tilstand |
| UBA5ubiquitin like modifier activating enzyme 5 | Svært ofte (80–99 %) | I 2 tilstander |
| UBTFupstream binding transcription factor | Svært ofte (80–99 %) | I 2 tilstander |
| VPS4Avacuolar protein sorting 4 homolog A | Svært ofte (80–99 %) | I 1 tilstand |
| AARS2alanyl-tRNA synthetase 2, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| ABCD1ATP binding cassette subfamily D member 1 | Ofte (30–79 %) | I 1 tilstand |
| ACBD6acyl-CoA binding domain containing 6 | Ofte (30–79 %) | I 1 tilstand |
| ACP5acid phosphatase 5, tartrate resistant | Ofte (30–79 %) | I 2 tilstander |
| ADAT3adenosine deaminase tRNA specific 3 | Ofte (30–79 %) | I 2 tilstander |
| ADGRG1adhesion G protein-coupled receptor G1 | Ofte (30–79 %) | I 1 tilstand |
| AFG2AAAA ATPase AFG2A | Ofte (30–79 %) | I 2 tilstander |
| AFG2BAAA ATPase AFG2B | Ofte (30–79 %) | I 1 tilstand |
| AGTPBP1ATP/GTP binding carboxypeptidase 1 | Ofte (30–79 %) | I 2 tilstander |
| AMACRalpha-methylacyl-CoA racemase | Ofte (30–79 %) | I 1 tilstand |
| ANGangiogenin | Ofte (30–79 %) | I 2 tilstander |
| ANXA11annexin A11 | Ofte (30–79 %) | I 1 tilstand |
| AP4M1adaptor related protein complex 4 subunit mu 1 | Ofte (30–79 %) | I 1 tilstand |
| AP4S1adaptor related protein complex 4 subunit sigma 1 | Ofte (30–79 %) | I 2 tilstander |
| AQP4aquaporin 4 | Ofte (30–79 %) | I 1 tilstand |
| ARF1ARF GTPase 1 | Ofte (30–79 %) | I 1 tilstand |
| ARPC5actin related protein 2/3 complex subunit 5 | Ofte (30–79 %) | I 1 tilstand |
| ATMATM serine/threonine kinase | Ofte (30–79 %) | I 1 tilstand |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Ofte (30–79 %) | I 1 tilstand |
| ATP6V1AATPase H+ transporting V1 subunit A | Ofte (30–79 %) | I 2 tilstander |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Ofte (30–79 %) | I 1 tilstand |
| ATXN2ataxin 2 | Ofte (30–79 %) | I 2 tilstander |
| ATXN3ataxin 3 | Ofte (30–79 %) | I 4 tilstander |
| ATXN8ataxin 8 | Ofte (30–79 %) | I 2 tilstander |
| ATXN8OSATXN8 opposite strand lncRNA | Ofte (30–79 %) | I 2 tilstander |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Ofte (30–79 %) | I 1 tilstand |
| BOLA3bolA family member 3 | Ofte (30–79 %) | I 2 tilstander |
| BORCS8BLOC-1 related complex subunit 8 | Ofte (30–79 %) | I 1 tilstand |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Ofte (30–79 %) | I 2 tilstander |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Ofte (30–79 %) | I 1 tilstand |
| C2orf69chromosome 2 open reading frame 69 | Ofte (30–79 %) | I 1 tilstand |
| CACNA1Dcalcium voltage-gated channel subunit alpha1 D | Ofte (30–79 %) | I 1 tilstand |
| CASKcalcium/calmodulin dependent serine protein kinase | Ofte (30–79 %) | I 3 tilstander |
| CASP2caspase 2 | Ofte (30–79 %) | I 1 tilstand |
| CCNFcyclin F | Ofte (30–79 %) | I 1 tilstand |
| CDKL5cyclin dependent kinase like 5 | Ofte (30–79 %) | I 2 tilstander |
| CDONcell adhesion associated, oncogene regulated | Ofte (30–79 %) | I 4 tilstander |
| CFAP410cilia and flagella associated protein 410 | Ofte (30–79 %) | I 1 tilstand |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Ofte (30–79 %) | I 1 tilstand |
| CHMP2Bcharged multivesicular body protein 2B | Ofte (30–79 %) | I 1 tilstand |
| CKAP2Lcytoskeleton associated protein 2L | Ofte (30–79 %) | I 1 tilstand |
| CLCN3Cl-/H+ antiporter 3 | Ofte (30–79 %) | I 1 tilstand |
| CLIP2CAP-Gly domain containing linker protein 2 | Ofte (30–79 %) | I 1 tilstand |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Ofte (30–79 %) | I 2 tilstander |
| CLPBClpB family mitochondrial disaggregase | Ofte (30–79 %) | I 2 tilstander |
| COG3component of oligomeric golgi complex 3 | Ofte (30–79 %) | I 1 tilstand |
| COPB1coat protein complex I subunit beta 1 | Ofte (30–79 %) | I 1 tilstand |
| COQ4coenzyme Q4 | Ofte (30–79 %) | I 1 tilstand |
| CPSF3cleavage and polyadenylation specific factor 3 | Ofte (30–79 %) | I 1 tilstand |
| CRIPTOcripto, EGF-CFC family member | Ofte (30–79 %) | I 4 tilstander |
| CSF1Rcolony stimulating factor 1 receptor | Ofte (30–79 %) | I 2 tilstander |
| CTSDcathepsin D | Ofte (30–79 %) | I 1 tilstand |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Ofte (30–79 %) | I 2 tilstander |
| DAOD-amino acid oxidase | Ofte (30–79 %) | I 1 tilstand |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Ofte (30–79 %) | I 2 tilstander |
| DCTN1dynactin subunit 1 | Ofte (30–79 %) | I 2 tilstander |
| DDX3XDEAD-box helicase 3 X-linked | Ofte (30–79 %) | I 2 tilstander |
| DISP1dispatched RND transporter family member 1 | Ofte (30–79 %) | I 4 tilstander |
| DLDdihydrolipoamide dehydrogenase | Ofte (30–79 %) | I 1 tilstand |
| DLL1delta like canonical Notch ligand 1 | Ofte (30–79 %) | I 4 tilstander |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Ofte (30–79 %) | I 1 tilstand |
| DRG1developmentally regulated GTP binding protein 1 | Ofte (30–79 %) | I 1 tilstand |
| DTYMKdeoxythymidylate kinase | Ofte (30–79 %) | I 1 tilstand |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Ofte (30–79 %) | I 1 tilstand |
| EIF2AK2eukaryotic translation initiation factor 2 alpha kinase 2 | Ofte (30–79 %) | I 2 tilstander |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Ofte (30–79 %) | I 1 tilstand |
| EIF4Heukaryotic translation initiation factor 4H | Ofte (30–79 %) | I 1 tilstand |
| ELNelastin | Ofte (30–79 %) | I 1 tilstand |
| 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 |
| EXOSC9exosome component 9 | Ofte (30–79 %) | I 2 tilstander |
| FAM177A1family with sequence similarity 177 member A1 | Ofte (30–79 %) | I 1 tilstand |
| FBXO7F-box protein 7 | Ofte (30–79 %) | I 1 tilstand |
| FDXRferredoxin reductase | Ofte (30–79 %) | I 2 tilstander |
| FGF8fibroblast growth factor 8 | Ofte (30–79 %) | I 4 tilstander |
| FGFR1fibroblast growth factor receptor 1 | Ofte (30–79 %) | I 3 tilstander |
| FIG4FIG4 phosphoinositide 5-phosphatase | Ofte (30–79 %) | I 2 tilstander |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Ofte (30–79 %) | I 1 tilstand |
| FLVCR1FLVCR choline and heme transporter 1 | Ofte (30–79 %) | I 1 tilstand |
| FOXG1forkhead box G1 | Ofte (30–79 %) | I 2 tilstander |
| FOXH1forkhead box H1 | Ofte (30–79 %) | I 4 tilstander |
| FOXP1forkhead box P1 | Ofte (30–79 %) | I 1 tilstand |
| FRMD5FERM domain containing 5 | Ofte (30–79 %) | I 1 tilstand |
| FRMPD4FERM and PDZ domain containing 4 | Ofte (30–79 %) | I 1 tilstand |
| FRRS1Lferric chelate reductase 1 like | Ofte (30–79 %) | I 1 tilstand |
| FTH1ferritin heavy chain 1 | Ofte (30–79 %) | I 1 tilstand |
| FUCA1alpha-L-fucosidase 1 | Ofte (30–79 %) | I 1 tilstand |
| FUSFUS RNA binding protein | Ofte (30–79 %) | I 1 tilstand |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Ofte (30–79 %) | I 2 tilstander |
| GAD1glutamate decarboxylase 1 | Ofte (30–79 %) | I 1 tilstand |
| GANgigaxonin | Ofte (30–79 %) | I 1 tilstand |
| GAS1growth arrest specific 1 | Ofte (30–79 %) | I 4 tilstander |
| GDAP2ganglioside induced differentiation associated protein 2 | Ofte (30–79 %) | I 1 tilstand |
| GEMIN4gem nuclear organelle associated protein 4 | Ofte (30–79 %) | I 1 tilstand |
| GFAPglial fibrillary acidic protein | Ofte (30–79 %) | I 3 tilstander |
| 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 1 tilstand |
| GLI2GLI family zinc finger 2 | Ofte (30–79 %) | I 4 tilstander |
| GLT8D1glycosyltransferase 8 domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| GLYCTKglycerate kinase | Ofte (30–79 %) | I 2 tilstander |
| GPAA1glycosylphosphatidylinositol anchor attachment 1 | Ofte (30–79 %) | I 2 tilstander |
| GPT2glutamic--pyruvic transaminase 2 | Ofte (30–79 %) | I 1 tilstand |
| GRIA4glutamate ionotropic receptor AMPA type subunit 4 | Ofte (30–79 %) | I 1 tilstand |
| GTF2Igeneral transcription factor IIi | Ofte (30–79 %) | I 1 tilstand |
| GTF2IRD1GTF2I repeat domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| GTF2IRD2GTF2I repeat domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| GTPBP2GTP binding protein 2 | Ofte (30–79 %) | I 1 tilstand |
| GUF1GTP binding elongation factor GUF1 | Ofte (30–79 %) | I 1 tilstand |
| 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 2 tilstander |
| HEXBhexosaminidase subunit beta | Ofte (30–79 %) | I 3 tilstander |
| HID1HID1 domain containing | Ofte (30–79 %) | I 1 tilstand |
| HIKESHIheat shock protein nuclear import factor hikeshi | Ofte (30–79 %) | I 1 tilstand |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Ofte (30–79 %) | I 1 tilstand |
| HTRA1HtrA serine peptidase 1 | Ofte (30–79 %) | I 2 tilstander |
| IARS1isoleucyl-tRNA synthetase 1 | Ofte (30–79 %) | I 2 tilstander |
| IBA57iron-sulfur cluster assembly factor IBA57 | Ofte (30–79 %) | I 1 tilstand |
| KATNB1katanin regulatory subunit B1 | Ofte (30–79 %) | I 1 tilstand |
| KDM5Clysine demethylase 5C | Ofte (30–79 %) | I 2 tilstander |
| KIF1Ckinesin family member 1C | Ofte (30–79 %) | I 2 tilstander |
| KRASKRas proto-oncogene, GTPase | Ofte (30–79 %) | I 1 tilstand |
| LAGE3L antigen family member 3 | Ofte (30–79 %) | I 1 tilstand |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Ofte (30–79 %) | I 1 tilstand |
| LIMK1LIM domain kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| LINGO1leucine rich repeat and Ig domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| LMBRD2LMBR1 domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| LMNB1lamin B1 | Ofte (30–79 %) | I 1 tilstand |
| LRP12LDL receptor related protein 12 | Ofte (30–79 %) | I 1 tilstand |
| LRPPRCleucine rich pentatricopeptide repeat containing | Ofte (30–79 %) | I 2 tilstander |
| LRRC8Cleucine rich repeat containing 8 VRAC subunit C | Ofte (30–79 %) | I 1 tilstand |
| MACF1microtubule actin crosslinking factor 1 | Ofte (30–79 %) | I 2 tilstander |
| MATR3matrin 3 | Ofte (30–79 %) | I 1 tilstand |
| MECP2methyl-CpG binding protein 2 | Ofte (30–79 %) | I 3 tilstander |
| MED12mediator complex subunit 12 | Ofte (30–79 %) | I 1 tilstand |
| METTL27methyltransferase like 27 | Ofte (30–79 %) | I 1 tilstand |
| MICOS13mitochondrial contact site and cristae organizing system subunit 13 | Ofte (30–79 %) | I 1 tilstand |
| MLC1modulator of VRAC current 1 | Ofte (30–79 %) | I 2 tilstander |
| MRPS34mitochondrial ribosomal protein S34 | Ofte (30–79 %) | I 1 tilstand |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Ofte (30–79 %) | I 2 tilstander |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Ofte (30–79 %) | I 1 tilstand |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Ofte (30–79 %) | I 1 tilstand |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Ofte (30–79 %) | I 1 tilstand |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Ofte (30–79 %) | I 1 tilstand |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Ofte (30–79 %) | I 2 tilstander |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Ofte (30–79 %) | I 2 tilstander |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Ofte (30–79 %) | I 1 tilstand |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Ofte (30–79 %) | I 1 tilstand |
| MTR5-methyltetrahydrofolate-homocysteine methyltransferase | Ofte (30–79 %) | I 1 tilstand |
| MTRFRmitochondrial translation release factor in rescue | Ofte (30–79 %) | I 1 tilstand |
| NCF1neutrophil cytosolic factor 1 | Ofte (30–79 %) | I 1 tilstand |
| NDUFA2NADH:ubiquinone oxidoreductase subunit A2 | Ofte (30–79 %) | I 1 tilstand |
| NDUFC2NADH:ubiquinone oxidoreductase subunit C2 | Ofte (30–79 %) | I 1 tilstand |
| NDUFV1NADH:ubiquinone oxidoreductase core subunit V1 | 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 |
| NODALnodal growth differentiation factor | Ofte (30–79 %) | I 4 tilstander |
| NOTCH3notch receptor 3 | Ofte (30–79 %) | I 2 tilstander |
| NOVA2NOVA alternative splicing regulator 2 | Ofte (30–79 %) | I 1 tilstand |
| NTNG1netrin G1 | Ofte (30–79 %) | I 1 tilstand |
| NTNG2netrin G2 | Ofte (30–79 %) | I 1 tilstand |
| NUP54nucleoporin 54 | Ofte (30–79 %) | I 1 tilstand |
| NUP62nucleoporin 62 | Ofte (30–79 %) | I 2 tilstander |
| OPTNoptineurin | Ofte (30–79 %) | I 1 tilstand |
| PANK2pantothenate kinase 2 | Ofte (30–79 %) | I 3 tilstander |
| PEX1peroxisomal biogenesis factor 1 | Ofte (30–79 %) | I 1 tilstand |
| PEX10peroxisomal biogenesis factor 10 | Ofte (30–79 %) | I 1 tilstand |
| PEX11Bperoxisomal biogenesis factor 11 beta | Ofte (30–79 %) | I 1 tilstand |
| PEX12peroxisomal biogenesis factor 12 | Ofte (30–79 %) | I 1 tilstand |
| PEX13peroxisomal biogenesis factor 13 | Ofte (30–79 %) | I 1 tilstand |
| PEX14peroxisomal biogenesis factor 14 | Ofte (30–79 %) | I 1 tilstand |
| PEX16peroxisomal biogenesis factor 16 | Ofte (30–79 %) | I 2 tilstander |
| PEX19peroxisomal biogenesis factor 19 | Ofte (30–79 %) | I 1 tilstand |
| PEX2peroxisomal biogenesis factor 2 | Ofte (30–79 %) | I 1 tilstand |
| PEX26peroxisomal biogenesis factor 26 | Ofte (30–79 %) | I 1 tilstand |
| PEX3peroxisomal biogenesis factor 3 | Ofte (30–79 %) | I 1 tilstand |
| PEX5peroxisomal biogenesis factor 5 | Ofte (30–79 %) | I 1 tilstand |
| PEX6peroxisomal biogenesis factor 6 | Ofte (30–79 %) | I 1 tilstand |
| PFN1profilin 1 | Ofte (30–79 %) | I 2 tilstander |
| PHGDHphosphoglycerate dehydrogenase | Ofte (30–79 %) | I 1 tilstand |
| PI4KAphosphatidylinositol 4-kinase alpha | Ofte (30–79 %) | I 1 tilstand |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Ofte (30–79 %) | I 1 tilstand |
| PLA2G6phospholipase A2 group VI | Ofte (30–79 %) | I 4 tilstander |
| PLCH1phospholipase C eta 1 | Ofte (30–79 %) | I 1 tilstand |
| PNPLA6patatin like domain 6, lysophospholipase | Ofte (30–79 %) | I 1 tilstand |
| POLGDNA polymerase gamma, catalytic subunit | Ofte (30–79 %) | I 1 tilstand |
| POLR1CRNA polymerase I and III subunit C | Ofte (30–79 %) | I 1 tilstand |
| POLR3ARNA polymerase III subunit A | Ofte (30–79 %) | I 3 tilstander |
| POLR3BRNA polymerase III subunit B | Ofte (30–79 %) | I 3 tilstander |
| PQBP1polyglutamine binding protein 1 | Ofte (30–79 %) | I 3 tilstander |
| PRPHperipherin | Ofte (30–79 %) | I 2 tilstander |
| PTCH1patched 1 | Ofte (30–79 %) | I 4 tilstander |
| PYCR2pyrroline-5-carboxylate reductase 2 | Ofte (30–79 %) | I 2 tilstander |
| RAB11BRAB11B, member RAS oncogene family | Ofte (30–79 %) | I 1 tilstand |
| RALGAPA1Ral GTPase activating protein catalytic subunit alpha 1 | Ofte (30–79 %) | I 1 tilstand |
| RANBP2RAN binding protein 2 | Ofte (30–79 %) | I 1 tilstand |
| RARS2arginyl-tRNA synthetase 2, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| RBMXRNA binding motif protein X-linked | Ofte (30–79 %) | I 2 tilstander |
| RFC2replication factor C subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| RNF13ring finger protein 13 | Ofte (30–79 %) | I 1 tilstand |
| RRP12ribosomal RNA processing 12 homolog | Ofte (30–79 %) | I 1 tilstand |
| RUSC2RUN and SH3 domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| SACSsacsin molecular chaperone | Ofte (30–79 %) | I 2 tilstander |
| SCYL1SCY1 like pseudokinase 1 | Ofte (30–79 %) | I 2 tilstander |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Ofte (30–79 %) | I 2 tilstander |
| SDHAF1succinate dehydrogenase complex assembly factor 1 | Ofte (30–79 %) | I 1 tilstand |
| SDHDsuccinate dehydrogenase complex subunit D | Ofte (30–79 %) | I 1 tilstand |
| SHHsonic hedgehog signaling molecule | Ofte (30–79 %) | I 4 tilstander |
| SIL1SIL1 nucleotide exchange factor | Ofte (30–79 %) | I 2 tilstander |
| SIX3SIX homeobox 3 | Ofte (30–79 %) | I 4 tilstander |
| SLC12A6solute carrier family 12 member 6 | Ofte (30–79 %) | I 1 tilstand |
| SLC16A2solute carrier family 16 member 2 | Ofte (30–79 %) | I 1 tilstand |
| SLC39A14solute carrier family 39 member 14 | Ofte (30–79 %) | I 2 tilstander |
| SLC5A6solute carrier family 5 member 6 | Ofte (30–79 %) | I 1 tilstand |
| SMC1Astructural maintenance of chromosomes 1A | Ofte (30–79 %) | I 2 tilstander |
| SNCAsynuclein alpha | Ofte (30–79 %) | I 2 tilstander |
| SOD1superoxide dismutase 1 | Ofte (30–79 %) | I 2 tilstander |
| SPARTspartin | Ofte (30–79 %) | I 1 tilstand |
| SPASTspastin | Ofte (30–79 %) | I 1 tilstand |
| SPG21SPG21 abhydrolase domain containing, maspardin | Ofte (30–79 %) | I 1 tilstand |
| SQSTM1sequestosome 1 | Ofte (30–79 %) | I 1 tilstand |
| SRPX2sushi repeat containing protein X-linked 2 | Ofte (30–79 %) | I 1 tilstand |
| STAG2STAG2 cohesin complex component | Ofte (30–79 %) | I 2 tilstander |
| STILSTIL centriolar assembly protein | Ofte (30–79 %) | I 4 tilstander |
| STN1STN1 subunit of CST complex | Ofte (30–79 %) | I 1 tilstand |
| STX1Asyntaxin 1A | Ofte (30–79 %) | I 1 tilstand |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Ofte (30–79 %) | I 2 tilstander |
| TAF1TATA-box binding protein associated factor 1 | Ofte (30–79 %) | I 1 tilstand |
| TAF15TATA-box binding protein associated factor 15 | Ofte (30–79 %) | I 1 tilstand |
| TAF2TATA-box binding protein associated factor 2 | Ofte (30–79 %) | I 2 tilstander |
| TARDBPTAR DNA binding protein | Ofte (30–79 %) | I 2 tilstander |
| TBK1TANK binding kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| TBL2transducin beta like 2 | Ofte (30–79 %) | I 1 tilstand |
| TBPTATA-box binding protein | Ofte (30–79 %) | I 1 tilstand |
| TELO2telomere maintenance 2 | Ofte (30–79 %) | I 2 tilstander |
| TGFB1transforming growth factor beta 1 | Ofte (30–79 %) | I 1 tilstand |
| TGIF1TGFB induced factor homeobox 1 | Ofte (30–79 %) | I 4 tilstander |
| TMEM270transmembrane protein 270 | Ofte (30–79 %) | I 1 tilstand |
| TOE1target of EGR1, exonuclease | Ofte (30–79 %) | I 2 tilstander |
| TPK1thiamin pyrophosphokinase 1 | Ofte (30–79 %) | I 1 tilstand |
| TRAPPC12trafficking protein particle complex subunit 12 | Ofte (30–79 %) | I 1 tilstand |
| TREM2triggering receptor expressed on myeloid cells 2 | Ofte (30–79 %) | I 3 tilstander |
| TUBA1Atubulin alpha 1a | Ofte (30–79 %) | I 1 tilstand |
| TUBA4Atubulin alpha 4a | Ofte (30–79 %) | I 1 tilstand |
| TUBB3tubulin beta 3 class III | Ofte (30–79 %) | I 2 tilstander |
| TYROBPtransmembrane immune signaling adaptor TYROBP | Ofte (30–79 %) | I 2 tilstander |
| UBQLN2ubiquilin 2 | Ofte (30–79 %) | I 1 tilstand |
| UGDHUDP-glucose 6-dehydrogenase | Ofte (30–79 %) | I 1 tilstand |
| UGP2UDP-glucose pyrophosphorylase 2 | Ofte (30–79 %) | I 1 tilstand |
| UNC13Aunc-13 homolog A | Ofte (30–79 %) | I 1 tilstand |
| VAPBVAMP associated protein B and C | Ofte (30–79 %) | I 1 tilstand |
| VCPvalosin containing protein | Ofte (30–79 %) | I 2 tilstander |
| VPS11VPS11 core subunit of CORVET and HOPS complexes | Ofte (30–79 %) | I 2 tilstander |
| VPS13Cvacuolar protein sorting 13 homolog C | Ofte (30–79 %) | I 2 tilstander |
| VPS13Dvacuolar protein sorting 13 homolog D | Ofte (30–79 %) | I 1 tilstand |
| VPS37DVPS37D subunit of ESCRT-I | Ofte (30–79 %) | I 1 tilstand |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Ofte (30–79 %) | I 1 tilstand |
| WDR73WD repeat domain 73 | Ofte (30–79 %) | I 2 tilstander |
| ZEB2zinc finger E-box binding homeobox 2 | Ofte (30–79 %) | I 2 tilstander |
| ZFYVE26zinc finger FYVE-type containing 26 | Ofte (30–79 %) | I 1 tilstand |
| ZIC2Zic family zinc finger 2 | Ofte (30–79 %) | I 4 tilstander |
| ZNF592zinc finger protein 592 | Ofte (30–79 %) | I 1 tilstand |
| ABHD12abhydrolase domain containing 12, lysophospholipase | Noen ganger (5–29 %) | I 1 tilstand |
| ACAT1acetyl-CoA acetyltransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ACTL6Bactin like 6B | Noen ganger (5–29 %) | I 1 tilstand |
| ADARB1adenosine deaminase RNA specific B1 | Noen ganger (5–29 %) | I 1 tilstand |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ARL6ARF like GTPase 6 | Noen ganger (5–29 %) | I 1 tilstand |
| ARSAarylsulfatase A | Noen ganger (5–29 %) | I 3 tilstander |
| ASAH1N-acylsphingosine amidohydrolase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ASPAaspartoacylase | Noen ganger (5–29 %) | I 1 tilstand |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Noen ganger (5–29 %) | I 1 tilstand |
| AUHAU RNA binding methylglutaconyl-CoA hydratase | Noen ganger (5–29 %) | I 1 tilstand |
| AUTS2activator of transcription and developmental regulator AUTS2 | Noen ganger (5–29 %) | I 1 tilstand |
| BBIP1BBSome interacting protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| BBS1Bardet-Biedl syndrome 1 | Noen ganger (5–29 %) | I 1 tilstand |
| BBS10Bardet-Biedl syndrome 10 | Noen ganger (5–29 %) | I 1 tilstand |
| BBS12Bardet-Biedl syndrome 12 | Noen ganger (5–29 %) | I 1 tilstand |
| BBS2Bardet-Biedl syndrome 2 | Noen ganger (5–29 %) | I 1 tilstand |
| BBS4Bardet-Biedl syndrome 4 | Noen ganger (5–29 %) | I 1 tilstand |
| BBS5Bardet-Biedl syndrome 5 | Noen ganger (5–29 %) | I 1 tilstand |
| BBS7Bardet-Biedl syndrome 7 | Noen ganger (5–29 %) | I 1 tilstand |
| BBS9Bardet-Biedl syndrome 9 | Noen ganger (5–29 %) | I 1 tilstand |
| BCL11BBCL11 transcription factor B | Noen ganger (5–29 %) | I 1 tilstand |
| BEAN1brain expressed associated with NEDD4 1 | Noen ganger (5–29 %) | I 1 tilstand |
| BRPF1bromodomain and PHD finger containing 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Noen ganger (5–29 %) | I 1 tilstand |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Noen ganger (5–29 %) | I 1 tilstand |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Noen ganger (5–29 %) | I 1 tilstand |
| CARS1cysteinyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CDK19cyclin dependent kinase 19 | Noen ganger (5–29 %) | I 1 tilstand |
| CELF2CUGBP Elav-like family member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CEP19centrosomal protein 19 | Noen ganger (5–29 %) | I 1 tilstand |
| CEP290centrosomal protein 290 | Noen ganger (5–29 %) | I 1 tilstand |
| CEP85Lcentrosomal protein 85L | Noen ganger (5–29 %) | I 1 tilstand |
| CFAP418cilia and flagella associated protein 418 | Noen ganger (5–29 %) | I 1 tilstand |
| CHMP1Acharged multivesicular body protein 1A | Noen ganger (5–29 %) | I 1 tilstand |
| CITcitron rho-interacting serine/threonine kinase | Noen ganger (5–29 %) | I 1 tilstand |
| CLTCclathrin heavy chain | Noen ganger (5–29 %) | I 2 tilstander |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CNTNAP2contactin associated protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CRELD1CRELD disulfide isomerase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CYB5Acytochrome b5 type A | Noen ganger (5–29 %) | I 1 tilstand |
| CYB5R3cytochrome b5 reductase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Noen ganger (5–29 %) | I 2 tilstander |
| DALRD3DALR anticodon binding domain containing 3 | Noen ganger (5–29 %) | I 1 tilstand |
| DBR1debranching RNA lariats 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DDB2damage specific DNA binding protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Noen ganger (5–29 %) | I 1 tilstand |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Noen ganger (5–29 %) | I 2 tilstander |
| DHPSdeoxyhypusine synthase | Noen ganger (5–29 %) | I 1 tilstand |
| DMXL2Dmx like 2 | Noen ganger (5–29 %) | I 1 tilstand |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Noen ganger (5–29 %) | I 2 tilstander |
| DNM1dynamin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DNMT1DNA methyltransferase 1 | Noen ganger (5–29 %) | I 2 tilstander |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Noen ganger (5–29 %) | I 1 tilstand |
| EBF3EBF transcription factor 3 | Noen ganger (5–29 %) | I 1 tilstand |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ELOVL4ELOVL fatty acid elongase 4 | Noen ganger (5–29 %) | I 1 tilstand |
| EXOSC3exosome component 3 | Noen ganger (5–29 %) | I 2 tilstander |
| EXOSC8exosome component 8 | Noen ganger (5–29 %) | I 1 tilstand |
| FBXO28F-box protein 28 | Noen ganger (5–29 %) | I 1 tilstand |
| FGF12fibroblast growth factor 12 | Noen ganger (5–29 %) | I 1 tilstand |
| FXNfrataxin | Noen ganger (5–29 %) | I 1 tilstand |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Noen ganger (5–29 %) | I 2 tilstander |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Noen ganger (5–29 %) | I 2 tilstander |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Noen ganger (5–29 %) | I 1 tilstand |
| GCH1GTP cyclohydrolase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GFM1G elongation factor mitochondrial 1 | Noen ganger (5–29 %) | I 2 tilstander |
| GMPPAGDP-mannose pyrophosphorylase A | Noen ganger (5–29 %) | I 1 tilstand |
| GNAO1G protein subunit alpha o1 | Noen ganger (5–29 %) | I 2 tilstander |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Noen ganger (5–29 %) | I 1 tilstand |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Noen ganger (5–29 %) | I 1 tilstand |
| GRM1glutamate metabotropic receptor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GRM7glutamate metabotropic receptor 7 | 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 |
| H3-3AH3.3 histone A | Noen ganger (5–29 %) | I 1 tilstand |
| H4C5H4 clustered histone 5 | Noen ganger (5–29 %) | I 1 tilstand |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Noen ganger (5–29 %) | I 1 tilstand |
| HTRA2HtrA serine peptidase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Noen ganger (5–29 %) | I 1 tilstand |
| IFT172intraflagellar transport 172 | Noen ganger (5–29 %) | I 1 tilstand |
| IFT27intraflagellar transport 27 | Noen ganger (5–29 %) | I 1 tilstand |
| IFT56intraflagellar transport 56 | Noen ganger (5–29 %) | I 1 tilstand |
| IFT74intraflagellar transport 74 | Noen ganger (5–29 %) | I 1 tilstand |
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Noen ganger (5–29 %) | I 2 tilstander |
| IRF2BPLinterferon regulatory factor 2 binding protein like | Noen ganger (5–29 %) | I 1 tilstand |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNC3potassium voltage-gated channel subfamily C member 3 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Noen ganger (5–29 %) | I 1 tilstand |
| KIF11kinesin family member 11 | Noen ganger (5–29 %) | I 1 tilstand |
| KMT2Blysine methyltransferase 2B | Noen ganger (5–29 %) | I 1 tilstand |
| LRRK2leucine rich repeat kinase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| LZTFL1leucine zipper transcription factor like 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MCCC1methylcrotonyl-CoA carboxylase subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MCCC2methylcrotonyl-CoA carboxylase subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Noen ganger (5–29 %) | I 2 tilstander |
| MED25mediator complex subunit 25 | Noen ganger (5–29 %) | I 2 tilstander |
| MFN2mitofusin 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MKKSMKKS centrosomal shuttling protein | Noen ganger (5–29 %) | I 1 tilstand |
| MKS1MKS transition zone complex subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MORC2MORC family CW-type zinc finger 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MPLKIPM-phase specific PLK1 interacting protein | Noen ganger (5–29 %) | I 1 tilstand |
| MTO1mitochondrial tRNA translation optimization 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MYO5Amyosin VA | Noen ganger (5–29 %) | I 1 tilstand |
| NACC1nucleus accumbens associated 1 | Noen ganger (5–29 %) | I 2 tilstander |
| NAXENAD(P)HX epimerase | Noen ganger (5–29 %) | I 1 tilstand |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Noen ganger (5–29 %) | I 1 tilstand |
| NECAP1NECAP endocytosis associated 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NEU1neuraminidase 1 | Noen ganger (5–29 %) | I 2 tilstander |
| NEUROD2neuronal differentiation 2 | Noen ganger (5–29 %) | I 1 tilstand |
| NPHP1nephrocystin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NR2F1nuclear receptor subfamily 2 group F member 1 | Noen ganger (5–29 %) | I 2 tilstander |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Noen ganger (5–29 %) | I 1 tilstand |
| ODC1ornithine decarboxylase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| OPA1OPA1 mitochondrial dynamin like GTPase | Noen ganger (5–29 %) | I 2 tilstander |
| OTUD6BOTU deubiquitinase 6B | Noen ganger (5–29 %) | I 1 tilstand |
| PACS2phosphofurin acidic cluster sorting protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PARK7Parkinsonism associated deglycase | Noen ganger (5–29 %) | I 1 tilstand |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Noen ganger (5–29 %) | I 2 tilstander |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Noen ganger (5–29 %) | I 1 tilstand |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Noen ganger (5–29 %) | I 1 tilstand |
| PINK1PTEN induced kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PMPCApeptidase, mitochondrial processing subunit alpha | Noen ganger (5–29 %) | I 2 tilstander |
| PNKPpolynucleotide kinase 3'-phosphatase | Noen ganger (5–29 %) | I 1 tilstand |
| PNPpurine nucleoside phosphorylase | Noen ganger (5–29 %) | I 1 tilstand |
| PODXLpodocalyxin like | Noen ganger (5–29 %) | I 1 tilstand |
| POLA1DNA polymerase alpha 1, catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| POU3F3POU class 3 homeobox 3 | Noen ganger (5–29 %) | I 1 tilstand |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Noen ganger (5–29 %) | I 2 tilstander |
| PRKNparkin RBR E3 ubiquitin protein ligase | Noen ganger (5–29 %) | I 1 tilstand |
| RAB3ARAB3A, member RAS oncogene family | 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 |
| RNU4-2RNA, U4 small nuclear 2 | Noen ganger (5–29 %) | I 1 tilstand |
| RTTNrotatin | Noen ganger (5–29 %) | I 2 tilstander |
| SATB1SATB homeobox 1 | Noen ganger (5–29 %) | I 2 tilstander |
| SCAPERS-phase cyclin A associated protein in the ER | Noen ganger (5–29 %) | I 1 tilstand |
| SCLT1sodium channel and clathrin linker 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Noen ganger (5–29 %) | I 2 tilstander |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Noen ganger (5–29 %) | I 1 tilstand |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Noen ganger (5–29 %) | I 1 tilstand |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Noen ganger (5–29 %) | I 1 tilstand |
| SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | Noen ganger (5–29 %) | I 1 tilstand |
| SETD5SET domain containing 5 | Noen ganger (5–29 %) | I 1 tilstand |
| SIK1salt inducible kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC1A2solute carrier family 1 member 2 | Noen ganger (5–29 %) | I 2 tilstander |
| SLC25A46solute carrier family 25 member 46 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC32A1solute carrier family 32 member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC38A3solute carrier family 38 member 3 | Noen ganger (5–29 %) | I 1 tilstand |
| SLITRK2SLIT and NTRK like family member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SMPD1sphingomyelin phosphodiesterase 1 | Noen ganger (5–29 %) | I 2 tilstander |
| SNORD118small nucleolar RNA, C/D box 118 | Noen ganger (5–29 %) | I 2 tilstander |
| SNX14sorting nexin 14 | Noen ganger (5–29 %) | I 2 tilstander |
| SONSON DNA and RNA binding protein | Noen ganger (5–29 %) | I 2 tilstander |
| SPTBN2spectrin beta, non-erythrocytic 2 | Noen ganger (5–29 %) | I 2 tilstander |
| SRD5A3steroid 5 alpha-reductase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| STUB1STIP1 homology and U-box containing protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SYNJ1synaptojanin 1 | Noen ganger (5–29 %) | I 2 tilstander |
| SZT2SZT2 subunit of KICSTOR complex | Noen ganger (5–29 %) | I 1 tilstand |
| TARS1threonyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| THOC2THO complex subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TIMM50translocase of inner mitochondrial membrane 50 | Noen ganger (5–29 %) | I 2 tilstander |
| TP53RKTP53 regulating kinase | Noen ganger (5–29 %) | I 1 tilstand |
| TRAK1trafficking kinesin protein 1 | Noen ganger (5–29 %) | I 2 tilstander |
| TRIM32tripartite motif containing 32 | Noen ganger (5–29 %) | I 1 tilstand |
| TRIM8tripartite motif containing 8 | Noen ganger (5–29 %) | I 1 tilstand |
| TSEN15tRNA splicing endonuclease subunit 15 | Noen ganger (5–29 %) | I 1 tilstand |
| TSEN34tRNA splicing endonuclease subunit 34 | Noen ganger (5–29 %) | I 1 tilstand |
| TSEN54tRNA splicing endonuclease subunit 54 | Noen ganger (5–29 %) | I 2 tilstander |
| TTC8tetratricopeptide repeat domain 8 | Noen ganger (5–29 %) | I 1 tilstand |
| TUBGCP2tubulin gamma complex component 2 | Noen ganger (5–29 %) | I 1 tilstand |
| UCHL1ubiquitin C-terminal hydrolase L1 | Noen ganger (5–29 %) | I 1 tilstand |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Noen ganger (5–29 %) | I 1 tilstand |
| UFSP2UFM1 specific peptidase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| VRK1VRK serine/threonine kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| WASHC4WASH complex subunit 4 | Noen ganger (5–29 %) | I 1 tilstand |
| WDPCPWD repeat containing planar cell polarity effector | Noen ganger (5–29 %) | I 1 tilstand |
| WDR45BWD repeat domain 45B | Noen ganger (5–29 %) | I 1 tilstand |
| XPAXPA, DNA damage recognition and repair factor | Noen ganger (5–29 %) | I 2 tilstander |
| XPCXPC complex subunit, DNA damage recognition and repair factor | Noen ganger (5–29 %) | I 1 tilstand |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Noen ganger (5–29 %) | I 1 tilstand |
| DNM1Ldynamin 1L | Sjelden (1–4%) | I 1 tilstand |
| FDX2ferredoxin 2 | Sjelden (1–4%) | I 1 tilstand |
| GRIA2glutamate ionotropic receptor AMPA type subunit 2 | Sjelden (1–4%) | I 1 tilstand |
| HMGCL3-hydroxy-3-methylglutaryl-CoA lyase | Sjelden (1–4%) | I 2 tilstander |
| NEFLneurofilament light chain | Sjelden (1–4%) | I 1 tilstand |
| PPIBpeptidylprolyl isomerase B | Sjelden (1–4%) | I 1 tilstand |
| SETBP1SET binding protein 1 | Sjelden (1–4%) | I 1 tilstand |
| SPTBN1spectrin beta, non-erythrocytic 1 | Sjelden (1–4%) | I 1 tilstand |
| STXBP1syntaxin binding protein 1 | Sjelden (1–4%) | I 1 tilstand |
| ABCC8ATP binding cassette subfamily C member 8 | Ikke registrert | I 1 tilstand |
| ADAM22ADAM metallopeptidase domain 22 | Ikke registrert | I 1 tilstand |
| ADSLadenylosuccinate lyase | Ikke registrert | I 1 tilstand |
| AGAaspartylglucosaminidase | Ikke registrert | I 1 tilstand |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Ikke registrert | I 1 tilstand |
| ATP13A2ATPase cation transporting 13A2 | Ikke registrert | I 1 tilstand |
| ATRXATRX chromatin remodeler | Ikke registrert | I 1 tilstand |
| ATXN1ataxin 1 | Ikke registrert | I 1 tilstand |
| ATXN7ataxin 7 | Ikke registrert | I 1 tilstand |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Ikke registrert | I 1 tilstand |
| BCS1LBCS1 ubiquinol-cytochrome c reductase complex chaperone | Ikke registrert | I 1 tilstand |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Ikke registrert | I 1 tilstand |
| CNTNAP1contactin associated protein 1 | Ikke registrert | I 1 tilstand |
| COL4A1collagen type IV alpha 1 chain | Ikke registrert | I 1 tilstand |
| CTC1CST telomere replication complex component 1 | Ikke registrert | I 1 tilstand |
| DCXdoublecortin | Ikke registrert | I 1 tilstand |
| DENND5ADENN domain containing 5A | Ikke registrert | I 1 tilstand |
| DYNC1I2dynein cytoplasmic 1 intermediate chain 2 | Ikke registrert | I 1 tilstand |
| ECHS1enoyl-CoA hydratase, short chain 1 | Ikke registrert | I 1 tilstand |
| EIF2B1eukaryotic translation initiation factor 2B subunit alpha | Ikke registrert | I 1 tilstand |
| EML1EMAP like 1 | Ikke registrert | I 1 tilstand |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Ikke registrert | I 1 tilstand |
| FTLferritin light chain | Ikke registrert | I 1 tilstand |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Ikke registrert | I 1 tilstand |
| GLRX5glutaredoxin 5 | Ikke registrert | I 1 tilstand |
| GRIN2Bglutamate ionotropic receptor NMDA type subunit 2B | Ikke registrert | I 2 tilstander |
| HLA-DQB1major histocompatibility complex, class II, DQ beta 1 | Ikke registrert | I 1 tilstand |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Ikke registrert | I 1 tilstand |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Ikke registrert | I 1 tilstand |
| HTThuntingtin | Ikke registrert | I 1 tilstand |
| ITM2Bintegral membrane protein 2B | Ikke registrert | I 2 tilstander |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Ikke registrert | I 1 tilstand |
| MAN2B1mannosidase alpha class 2B member 1 | Ikke registrert | I 1 tilstand |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Ikke registrert | I 1 tilstand |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Ikke registrert | I 1 tilstand |
| MT-TImitochondrially encoded tRNA-Ile (AUU/C) | Ikke registrert | I 1 tilstand |
| MT-TPmitochondrially encoded tRNA-Pro (CCN) | Ikke registrert | I 1 tilstand |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Ikke registrert | I 1 tilstand |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Ikke registrert | I 1 tilstand |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Ikke registrert | I 1 tilstand |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Ikke registrert | I 1 tilstand |
| NDUFV2NADH:ubiquinone oxidoreductase core subunit V2 | 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 |
| NSUN2NOP2/Sun RNA methyltransferase 2 | Ikke registrert | I 1 tilstand |
| NUP214nucleoporin 214 | Ikke registrert | I 1 tilstand |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Ikke registrert | I 1 tilstand |
| OPHN1oligophrenin 1 | Ikke registrert | I 1 tilstand |
| OSGEPO-sialoglycoprotein endopeptidase | Ikke registrert | I 1 tilstand |
| PCLOpiccolo presynaptic cytomatrix protein | Ikke registrert | I 1 tilstand |
| PEX7peroxisomal biogenesis factor 7 | Ikke registrert | I 1 tilstand |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Ikke registrert | I 1 tilstand |
| PMPCBpeptidase, mitochondrial processing subunit beta | Ikke registrert | I 1 tilstand |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Ikke registrert | I 1 tilstand |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Ikke registrert | I 1 tilstand |
| PPT1palmitoyl-protein thioesterase 1 | Ikke registrert | I 1 tilstand |
| PRDM8PR/SET domain 8 | Ikke registrert | I 1 tilstand |
| PRNPprion protein (Kanno blood group) | Ikke registrert | I 1 tilstand |
| RAB27ARAB27A, member RAS oncogene family | Ikke registrert | I 1 tilstand |
| RFT1RFT1 glycolipid translocator homolog | Ikke registrert | I 1 tilstand |
| RLIMring finger protein, LIM domain interacting | Ikke registrert | I 1 tilstand |
| RPIAribose 5-phosphate isomerase A | Ikke registrert | I 1 tilstand |
| SLC12A2solute carrier family 12 member 2 | Ikke registrert | I 1 tilstand |
| SLC17A5solute carrier family 17 member 5 | Ikke registrert | I 1 tilstand |
| SLC25A15solute carrier family 25 member 15 | Ikke registrert | I 1 tilstand |
| SLC6A8solute carrier family 6 member 8 | Ikke registrert | I 1 tilstand |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Ikke registrert | I 1 tilstand |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Ikke registrert | I 1 tilstand |
| SUMF1sulfatase modifying factor 1 | Ikke registrert | I 1 tilstand |
| TCF20transcription factor 20 | Ikke registrert | I 1 tilstand |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Ikke registrert | I 1 tilstand |
| TMEM67transmembrane protein 67 | Ikke registrert | I 1 tilstand |
| TPI1triosephosphate isomerase 1 | Ikke registrert | I 1 tilstand |
| TTRtransthyretin | Ikke registrert | I 1 tilstand |
| TUFMTu translation elongation factor, mitochondrial | Ikke registrert | I 1 tilstand |
| TXN2thioredoxin 2 | Ikke registrert | I 1 tilstand |
| UFM1ubiquitin fold modifier 1 | Ikke registrert | I 1 tilstand |
| UNC80unc-80 subunit of NALCN channel complex | Ikke registrert | I 1 tilstand |
| ZC4H2zinc finger C4H2-type containing | Ikke registrert | I 2 tilstander |
| ZNF335zinc finger protein 335 | 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.
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