Trait
Involuntary muscle stiffness, contraction, or spasm
Clinical name: Spasticity
A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
Summary
- Also called
- Muscle spasticity, Muscular spasticity
Reference genomeGRCh38hg38
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Get my Genome Test710 genes linked to Involuntary muscle stiffness, contraction, or spasm
Changes in these genes cause rare conditions in which Involuntary muscle stiffness, contraction, or spasm is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| AARS1alanyl-tRNA synthetase 1 | Always | In 4 conditions |
| ABCB1ATP binding cassette subfamily B member 1 | Always | In 1 condition |
| ADD3adducin 3 | Always | In 1 condition |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Always | In 5 conditions |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Always | In 2 conditions |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Always | In 2 conditions |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Always | In 3 conditions |
| AMPD2adenosine monophosphate deaminase 2 | Always | In 2 conditions |
| ANK3ankyrin 3 | Always | In 2 conditions |
| ANKLE2ankyrin repeat and LEM domain containing 2 | Always | In 1 condition |
| AP1G1adaptor related protein complex 1 subunit gamma 1 | Always | In 2 conditions |
| AP4B1adaptor related protein complex 4 subunit beta 1 | Always | In 2 conditions |
| ARL6IP1ARL6 interacting reticulophagy regulator 1 | Always | In 2 conditions |
| ARNT2aryl hydrocarbon receptor nuclear translocator 2 | Always | In 1 condition |
| ATAD3AATPase family AAA domain containing 3A | Always | In 3 conditions |
| ATP6AP2ATPase H+ transporting accessory protein 2 | Always | In 3 conditions |
| C19orf12chromosome 19 open reading frame 12 | Always | In 2 conditions |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Always | In 2 conditions |
| CAMK2Acalcium/calmodulin dependent protein kinase II alpha | Always | In 1 condition |
| CHP1calcineurin like EF-hand protein 1 | Always | In 1 condition |
| COL4A2collagen type IV alpha 2 chain | Always | In 1 condition |
| COPB2coat protein complex I subunit beta 2 | Always | In 2 conditions |
| COX8Acytochrome c oxidase subunit 8A | Always | In 1 condition |
| CST3cystatin C | Always | In 1 condition |
| DHCR2424-dehydrocholesterol reductase | Always | In 2 conditions |
| DSTdystonin | Always | In 1 condition |
| EIF2B2eukaryotic translation initiation factor 2B subunit beta | Always | In 1 condition |
| EIF2B4eukaryotic translation initiation factor 2B subunit delta | Always | In 1 condition |
| EIF4A2eukaryotic translation initiation factor 4A2 | Always | In 1 condition |
| ELOVL1ELOVL fatty acid elongase 1 | Always | In 1 condition |
| ENTPD1ectonucleoside triphosphate diphosphohydrolase 1 | Always | In 2 conditions |
| ERLIN1ER lipid raft associated 1 | Always | In 1 condition |
| ESAMendothelial cell adhesion molecule | Always | In 1 condition |
| EXOC8exocyst complex component 8 | Always | In 1 condition |
| FAR1fatty acyl-CoA reductase 1 | Always | In 1 condition |
| FEM1Bfem-1 homolog B | Always | In 1 condition |
| FZR1fizzy and cell division cycle 20 related 1 | Always | In 2 conditions |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Always | In 2 conditions |
| GPRC5BG protein-coupled receptor class C group 5 member B | Always | In 2 conditions |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Always | In 4 conditions |
Show 670 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| GTF3C3general transcription factor IIIC subunit 3 | Always | In 1 condition |
| HIVEP2HIVEP zinc finger 2 | Always | In 1 condition |
| IREB2iron responsive element binding protein 2 | Always | In 1 condition |
| ISCA1iron-sulfur cluster assembly 1 | Always | In 2 conditions |
| ISCA2iron-sulfur cluster assembly 2 | Always | In 1 condition |
| JAM3junctional adhesion molecule 3 | Always | In 1 condition |
| KDM2Blysine demethylase 2B | Always | In 1 condition |
| KIF1Akinesin family member 1A | Always | In 2 conditions |
| KLC4kinesin light chain 4 | Always | In 1 condition |
| LGI1leucine rich glioma inactivated 1 | Always | In 2 conditions |
| LSM7LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated | Always | In 1 condition |
| LYRM7LYR motif containing 7 | Always | In 1 condition |
| MAGmyelin associated glycoprotein | Always | In 2 conditions |
| MARS1methionyl-tRNA synthetase 1 | Always | In 1 condition |
| MARS2methionyl-tRNA synthetase 2, mitochondrial | Always | In 2 conditions |
| MAU2MAU2 sister chromatid cohesion factor | Always | In 1 condition |
| MCEEmethylmalonyl-CoA epimerase | Always | In 1 condition |
| MED17mediator complex subunit 17 | Always | In 1 condition |
| MED23mediator complex subunit 23 | Always | In 1 condition |
| MFFmitochondrial fission factor | Always | In 2 conditions |
| MTHFSmethenyltetrahydrofolate synthetase | Always | In 1 condition |
| NADK2NAD kinase 2, mitochondrial | Always | In 1 condition |
| NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5 | Always | In 1 condition |
| NIT1nitrilase 1 | Always | In 1 condition |
| NKX6-2NK6 homeobox 2 | Always | In 1 condition |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Always | In 1 condition |
| PCYT2phosphate cytidylyltransferase 2, ethanolamine | Always | In 1 condition |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Always | In 1 condition |
| PI4K2Aphosphatidylinositol 4-kinase type 2 alpha | Always | In 1 condition |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Always | In 2 conditions |
| PLCB1phospholipase C beta 1 | Always | In 1 condition |
| PNPLA8patatin like domain 8, phospholipase A2 | Always | In 1 condition |
| POLR1ARNA polymerase I subunit A | Always | In 1 condition |
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Always | In 1 condition |
| PTPN23protein tyrosine phosphatase non-receptor type 23 | Always | In 1 condition |
| PTRHD1peptidyl-tRNA hydrolase domain containing 1 | Always | In 1 condition |
| RAD50RAD50 double strand break repair protein | Always | In 1 condition |
| REEP2receptor accessory protein 2 | Always | In 2 conditions |
| RETREG1reticulophagy regulator 1 | Always | In 1 condition |
| SCYL2SCY1 like pseudokinase 2 | Always | In 1 condition |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Always | In 1 condition |
| SLC1A4solute carrier family 1 member 4 | Always | In 1 condition |
| SLC25A10solute carrier family 25 member 10 | Always | In 1 condition |
| SLC25A12solute carrier family 25 member 12 | Always | In 1 condition |
| SLC25A22solute carrier family 25 member 22 | Always | In 2 conditions |
| SNAPC4small nuclear RNA activating complex polypeptide 4 | Always | In 1 condition |
| SPOUT1SPOUT domain containing methyltransferase 1 | Always | In 1 condition |
| SPRsepiapterin reductase | Always | In 1 condition |
| TAF4TATA-box binding protein associated factor 4 | Always | In 1 condition |
| TBC1D23TBC1 domain family member 23 | Always | In 1 condition |
| TBCBtubulin folding cofactor B | Always | In 1 condition |
| TBCEtubulin folding cofactor E | Always | In 1 condition |
| TCTN2tectonic family member 2 | Always | In 1 condition |
| TPRKBTP53RK binding protein | Always | In 1 condition |
| TREX1three prime repair exonuclease 1 | Always | In 2 conditions |
| TRIT1tRNA isopentenyltransferase 1 | Always | In 1 condition |
| TRMT5tRNA methyltransferase 5 | Always | In 1 condition |
| TSEN2tRNA splicing endonuclease subunit 2 | Always | In 2 conditions |
| TUBB4Atubulin beta 4A class IVa | Always | In 1 condition |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Always | In 1 condition |
| VPS53VPS53 subunit of GARP complex | Always | In 1 condition |
| WWOXWW domain containing oxidoreductase | Always | In 2 conditions |
| YIF1BYip1 interacting factor homolog B, membrane trafficking protein | Always | In 1 condition |
| ZBTB11zinc finger and BTB domain containing 11 | Always | In 1 condition |
| ADARadenosine deaminase RNA specific | Very often (80–99%) | In 2 conditions |
| AP4E1adaptor related protein complex 4 subunit epsilon 1 | Very often (80–99%) | In 2 conditions |
| ARXaristaless related homeobox | Very often (80–99%) | In 5 conditions |
| ATAD1ATPase family AAA domain containing 1 | Very often (80–99%) | In 1 condition |
| ATP7AATPase copper transporting alpha | Very often (80–99%) | In 1 condition |
| BCAS3BCAS3 microtubule associated cell migration factor | Very often (80–99%) | In 1 condition |
| CCT5chaperonin containing TCP1 subunit 5 | Very often (80–99%) | In 1 condition |
| CTNNB1catenin beta 1 | Very often (80–99%) | In 2 conditions |
| DEGS1delta 4-desaturase, sphingolipid 1 | Very often (80–99%) | In 1 condition |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Very often (80–99%) | In 4 conditions |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Very often (80–99%) | In 3 conditions |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Very often (80–99%) | In 2 conditions |
| ERCC5ERCC excision repair 5, endonuclease | Very often (80–99%) | In 3 conditions |
| ERLIN2ER lipid raft associated 2 | Very often (80–99%) | In 2 conditions |
| EXOSC5exosome component 5 | Very often (80–99%) | In 1 condition |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Very often (80–99%) | In 2 conditions |
| GALCgalactosylceramidase | Very often (80–99%) | In 2 conditions |
| GBA1glucosylceramidase beta 1 | Very often (80–99%) | In 2 conditions |
| GBA2glucosylceramidase beta 2 | Very often (80–99%) | In 1 condition |
| GBE11,4-alpha-glucan branching enzyme 1 | Very often (80–99%) | In 1 condition |
| GLRA1glycine receptor alpha 1 | Very often (80–99%) | In 1 condition |
| GLRBglycine receptor beta | Very often (80–99%) | In 1 condition |
| GPHNgephyrin | Very often (80–99%) | In 1 condition |
| HPRT1hypoxanthine phosphoribosyltransferase 1 | Very often (80–99%) | In 2 conditions |
| IFIH1interferon induced with helicase C domain 1 | Very often (80–99%) | In 1 condition |
| L1CAML1 cell adhesion molecule | Very often (80–99%) | In 4 conditions |
| LSM11LSM11, U7 small nuclear RNA associated | Very often (80–99%) | In 1 condition |
| MED27mediator complex subunit 27 | Very often (80–99%) | In 1 condition |
| NAGAalpha-N-acetylgalactosaminidase | Very often (80–99%) | In 2 conditions |
| NSD1nuclear receptor binding SET domain protein 1 | Very often (80–99%) | In 1 condition |
| OCLNoccludin | Very often (80–99%) | In 2 conditions |
| PLP1proteolipid protein 1 | Very often (80–99%) | In 2 conditions |
| PSAPprosaposin | Very often (80–99%) | In 4 conditions |
| RAB18RAB18, member RAS oncogene family | Very often (80–99%) | In 1 condition |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Very often (80–99%) | In 1 condition |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Very often (80–99%) | In 1 condition |
| RNASEH2Aribonuclease H2 subunit A | Very often (80–99%) | In 2 conditions |
| RNASEH2Bribonuclease H2 subunit B | Very often (80–99%) | In 1 condition |
| RNASEH2Cribonuclease H2 subunit C | Very often (80–99%) | In 2 conditions |
| RNASET2ribonuclease T2 | Very often (80–99%) | In 1 condition |
| RNU4ATACRNA, U4atac small nuclear | Very often (80–99%) | In 1 condition |
| RNU7-1RNA, U7 small nuclear 1 | Very often (80–99%) | In 2 conditions |
| ROGDIrogdi atypical leucine zipper | Very often (80–99%) | In 2 conditions |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Very often (80–99%) | In 2 conditions |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Very often (80–99%) | In 2 conditions |
| SERAC1serine active site containing 1 | Very often (80–99%) | In 1 condition |
| SLC13A5solute carrier family 13 member 5 | Very often (80–99%) | In 3 conditions |
| SLC2A1solute carrier family 2 member 1 | Very often (80–99%) | In 3 conditions |
| SLC6A5solute carrier family 6 member 5 | Very often (80–99%) | In 1 condition |
| SOX10SRY-box transcription factor 10 | Very often (80–99%) | In 2 conditions |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Very often (80–99%) | In 1 condition |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Very often (80–99%) | In 1 condition |
| SVBPsmall vasohibin binding protein | Very often (80–99%) | In 1 condition |
| TBC1D20TBC1 domain family member 20 | Very often (80–99%) | In 1 condition |
| TBCDtubulin folding cofactor D | Very often (80–99%) | In 1 condition |
| TFGtrafficking from ER to golgi regulator | Very often (80–99%) | In 1 condition |
| TNRtenascin R | Very often (80–99%) | In 1 condition |
| UBA5ubiquitin like modifier activating enzyme 5 | Very often (80–99%) | In 2 conditions |
| UBTFupstream binding transcription factor | Very often (80–99%) | In 2 conditions |
| VPS4Avacuolar protein sorting 4 homolog A | Very often (80–99%) | In 1 condition |
| AARS2alanyl-tRNA synthetase 2, mitochondrial | Often (30–79%) | In 1 condition |
| ABCD1ATP binding cassette subfamily D member 1 | Often (30–79%) | In 1 condition |
| ACBD6acyl-CoA binding domain containing 6 | Often (30–79%) | In 1 condition |
| ACP5acid phosphatase 5, tartrate resistant | Often (30–79%) | In 2 conditions |
| ADAT3adenosine deaminase tRNA specific 3 | Often (30–79%) | In 2 conditions |
| ADGRG1adhesion G protein-coupled receptor G1 | Often (30–79%) | In 1 condition |
| AFG2AAAA ATPase AFG2A | Often (30–79%) | In 2 conditions |
| AFG2BAAA ATPase AFG2B | Often (30–79%) | In 1 condition |
| AGTPBP1ATP/GTP binding carboxypeptidase 1 | Often (30–79%) | In 2 conditions |
| AMACRalpha-methylacyl-CoA racemase | Often (30–79%) | In 1 condition |
| ANGangiogenin | Often (30–79%) | In 2 conditions |
| ANXA11annexin A11 | Often (30–79%) | In 1 condition |
| AP4M1adaptor related protein complex 4 subunit mu 1 | Often (30–79%) | In 1 condition |
| AP4S1adaptor related protein complex 4 subunit sigma 1 | Often (30–79%) | In 2 conditions |
| AQP4aquaporin 4 | Often (30–79%) | In 1 condition |
| ARF1ARF GTPase 1 | Often (30–79%) | In 1 condition |
| ARPC5actin related protein 2/3 complex subunit 5 | Often (30–79%) | In 1 condition |
| ATMATM serine/threonine kinase | Often (30–79%) | In 1 condition |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Often (30–79%) | In 1 condition |
| ATP6V1AATPase H+ transporting V1 subunit A | Often (30–79%) | In 2 conditions |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Often (30–79%) | In 1 condition |
| ATXN2ataxin 2 | Often (30–79%) | In 2 conditions |
| ATXN3ataxin 3 | Often (30–79%) | In 4 conditions |
| ATXN8ataxin 8 | Often (30–79%) | In 2 conditions |
| ATXN8OSATXN8 opposite strand lncRNA | Often (30–79%) | In 2 conditions |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Often (30–79%) | In 1 condition |
| BOLA3bolA family member 3 | Often (30–79%) | In 2 conditions |
| BORCS8BLOC-1 related complex subunit 8 | Often (30–79%) | In 1 condition |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Often (30–79%) | In 2 conditions |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Often (30–79%) | In 1 condition |
| C2orf69chromosome 2 open reading frame 69 | Often (30–79%) | In 1 condition |
| CACNA1Dcalcium voltage-gated channel subunit alpha1 D | Often (30–79%) | In 1 condition |
| CASKcalcium/calmodulin dependent serine protein kinase | Often (30–79%) | In 3 conditions |
| CASP2caspase 2 | Often (30–79%) | In 1 condition |
| CCNFcyclin F | Often (30–79%) | In 1 condition |
| CDKL5cyclin dependent kinase like 5 | Often (30–79%) | In 2 conditions |
| CDONcell adhesion associated, oncogene regulated | Often (30–79%) | In 4 conditions |
| CFAP410cilia and flagella associated protein 410 | Often (30–79%) | In 1 condition |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Often (30–79%) | In 1 condition |
| CHMP2Bcharged multivesicular body protein 2B | Often (30–79%) | In 1 condition |
| CKAP2Lcytoskeleton associated protein 2L | Often (30–79%) | In 1 condition |
| CLCN3Cl-/H+ antiporter 3 | Often (30–79%) | In 1 condition |
| CLIP2CAP-Gly domain containing linker protein 2 | Often (30–79%) | In 1 condition |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Often (30–79%) | In 2 conditions |
| CLPBClpB family mitochondrial disaggregase | Often (30–79%) | In 2 conditions |
| COG3component of oligomeric golgi complex 3 | Often (30–79%) | In 1 condition |
| COPB1coat protein complex I subunit beta 1 | Often (30–79%) | In 1 condition |
| COQ4coenzyme Q4 | Often (30–79%) | In 1 condition |
| CPSF3cleavage and polyadenylation specific factor 3 | Often (30–79%) | In 1 condition |
| CRIPTOcripto, EGF-CFC family member | Often (30–79%) | In 4 conditions |
| CSF1Rcolony stimulating factor 1 receptor | Often (30–79%) | In 2 conditions |
| CTSDcathepsin D | Often (30–79%) | In 1 condition |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Often (30–79%) | In 2 conditions |
| DAOD-amino acid oxidase | Often (30–79%) | In 1 condition |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Often (30–79%) | In 2 conditions |
| DCTN1dynactin subunit 1 | Often (30–79%) | In 2 conditions |
| DDX3XDEAD-box helicase 3 X-linked | Often (30–79%) | In 2 conditions |
| DISP1dispatched RND transporter family member 1 | Often (30–79%) | In 4 conditions |
| DLDdihydrolipoamide dehydrogenase | Often (30–79%) | In 1 condition |
| DLL1delta like canonical Notch ligand 1 | Often (30–79%) | In 4 conditions |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Often (30–79%) | In 1 condition |
| DRG1developmentally regulated GTP binding protein 1 | Often (30–79%) | In 1 condition |
| DTYMKdeoxythymidylate kinase | Often (30–79%) | In 1 condition |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Often (30–79%) | In 1 condition |
| EIF2AK2eukaryotic translation initiation factor 2 alpha kinase 2 | Often (30–79%) | In 2 conditions |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Often (30–79%) | In 1 condition |
| EIF4Heukaryotic translation initiation factor 4H | Often (30–79%) | In 1 condition |
| ELNelastin | Often (30–79%) | In 1 condition |
| EPM2AEPM2A glucan phosphatase, laforin | Often (30–79%) | In 1 condition |
| EPRS1glutamyl-prolyl-tRNA synthetase 1 | Often (30–79%) | In 1 condition |
| ERBB4erb-b2 receptor tyrosine kinase 4 | Often (30–79%) | In 1 condition |
| EXOSC9exosome component 9 | Often (30–79%) | In 2 conditions |
| FAM177A1family with sequence similarity 177 member A1 | Often (30–79%) | In 1 condition |
| FBXO7F-box protein 7 | Often (30–79%) | In 1 condition |
| FDXRferredoxin reductase | Often (30–79%) | In 2 conditions |
| FGF8fibroblast growth factor 8 | Often (30–79%) | In 4 conditions |
| FGFR1fibroblast growth factor receptor 1 | Often (30–79%) | In 3 conditions |
| FIG4FIG4 phosphoinositide 5-phosphatase | Often (30–79%) | In 2 conditions |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Often (30–79%) | In 1 condition |
| FLVCR1FLVCR choline and heme transporter 1 | Often (30–79%) | In 1 condition |
| FOXG1forkhead box G1 | Often (30–79%) | In 2 conditions |
| FOXH1forkhead box H1 | Often (30–79%) | In 4 conditions |
| FOXP1forkhead box P1 | Often (30–79%) | In 1 condition |
| FRMD5FERM domain containing 5 | Often (30–79%) | In 1 condition |
| FRMPD4FERM and PDZ domain containing 4 | Often (30–79%) | In 1 condition |
| FRRS1Lferric chelate reductase 1 like | Often (30–79%) | In 1 condition |
| FTH1ferritin heavy chain 1 | Often (30–79%) | In 1 condition |
| FUCA1alpha-L-fucosidase 1 | Often (30–79%) | In 1 condition |
| FUSFUS RNA binding protein | Often (30–79%) | In 1 condition |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Often (30–79%) | In 2 conditions |
| GAD1glutamate decarboxylase 1 | Often (30–79%) | In 1 condition |
| GANgigaxonin | Often (30–79%) | In 1 condition |
| GAS1growth arrest specific 1 | Often (30–79%) | In 4 conditions |
| GDAP2ganglioside induced differentiation associated protein 2 | Often (30–79%) | In 1 condition |
| GEMIN4gem nuclear organelle associated protein 4 | Often (30–79%) | In 1 condition |
| GFAPglial fibrillary acidic protein | Often (30–79%) | In 3 conditions |
| GJA1gap junction protein alpha 1 | Often (30–79%) | In 2 conditions |
| GLB1galactosidase beta 1 | Often (30–79%) | In 1 condition |
| GLE1GLE1 RNA export mediator | Often (30–79%) | In 1 condition |
| GLI2GLI family zinc finger 2 | Often (30–79%) | In 4 conditions |
| GLT8D1glycosyltransferase 8 domain containing 1 | Often (30–79%) | In 1 condition |
| GLYCTKglycerate kinase | Often (30–79%) | In 2 conditions |
| GPAA1glycosylphosphatidylinositol anchor attachment 1 | Often (30–79%) | In 2 conditions |
| GPT2glutamic--pyruvic transaminase 2 | Often (30–79%) | In 1 condition |
| GRIA4glutamate ionotropic receptor AMPA type subunit 4 | Often (30–79%) | In 1 condition |
| GTF2Igeneral transcription factor IIi | Often (30–79%) | In 1 condition |
| GTF2IRD1GTF2I repeat domain containing 1 | Often (30–79%) | In 1 condition |
| GTF2IRD2GTF2I repeat domain containing 2 | Often (30–79%) | In 1 condition |
| GTPBP2GTP binding protein 2 | Often (30–79%) | In 1 condition |
| GUF1GTP binding elongation factor GUF1 | Often (30–79%) | In 1 condition |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Often (30–79%) | In 1 condition |
| HEPACAMhepatic and glial cell adhesion molecule | Often (30–79%) | In 2 conditions |
| HEXBhexosaminidase subunit beta | Often (30–79%) | In 3 conditions |
| HID1HID1 domain containing | Often (30–79%) | In 1 condition |
| HIKESHIheat shock protein nuclear import factor hikeshi | Often (30–79%) | In 1 condition |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Often (30–79%) | In 1 condition |
| HTRA1HtrA serine peptidase 1 | Often (30–79%) | In 2 conditions |
| IARS1isoleucyl-tRNA synthetase 1 | Often (30–79%) | In 2 conditions |
| IBA57iron-sulfur cluster assembly factor IBA57 | Often (30–79%) | In 1 condition |
| KATNB1katanin regulatory subunit B1 | Often (30–79%) | In 1 condition |
| KDM5Clysine demethylase 5C | Often (30–79%) | In 2 conditions |
| KIF1Ckinesin family member 1C | Often (30–79%) | In 2 conditions |
| KRASKRas proto-oncogene, GTPase | Often (30–79%) | In 1 condition |
| LAGE3L antigen family member 3 | Often (30–79%) | In 1 condition |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Often (30–79%) | In 1 condition |
| LIMK1LIM domain kinase 1 | Often (30–79%) | In 1 condition |
| LINGO1leucine rich repeat and Ig domain containing 1 | Often (30–79%) | In 1 condition |
| LMBRD2LMBR1 domain containing 2 | Often (30–79%) | In 1 condition |
| LMNB1lamin B1 | Often (30–79%) | In 1 condition |
| LRP12LDL receptor related protein 12 | Often (30–79%) | In 1 condition |
| LRPPRCleucine rich pentatricopeptide repeat containing | Often (30–79%) | In 2 conditions |
| LRRC8Cleucine rich repeat containing 8 VRAC subunit C | Often (30–79%) | In 1 condition |
| MACF1microtubule actin crosslinking factor 1 | Often (30–79%) | In 2 conditions |
| MATR3matrin 3 | Often (30–79%) | In 1 condition |
| MECP2methyl-CpG binding protein 2 | Often (30–79%) | In 3 conditions |
| MED12mediator complex subunit 12 | Often (30–79%) | In 1 condition |
| METTL27methyltransferase like 27 | Often (30–79%) | In 1 condition |
| MICOS13mitochondrial contact site and cristae organizing system subunit 13 | Often (30–79%) | In 1 condition |
| MLC1modulator of VRAC current 1 | Often (30–79%) | In 2 conditions |
| MRPS34mitochondrial ribosomal protein S34 | Often (30–79%) | In 1 condition |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Often (30–79%) | In 2 conditions |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Often (30–79%) | In 1 condition |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Often (30–79%) | In 1 condition |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Often (30–79%) | In 1 condition |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Often (30–79%) | In 1 condition |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Often (30–79%) | In 1 condition |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Often (30–79%) | In 1 condition |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Often (30–79%) | In 2 conditions |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Often (30–79%) | In 2 conditions |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Often (30–79%) | In 1 condition |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Often (30–79%) | In 1 condition |
| MTR5-methyltetrahydrofolate-homocysteine methyltransferase | Often (30–79%) | In 1 condition |
| MTRFRmitochondrial translation release factor in rescue | Often (30–79%) | In 1 condition |
| NCF1neutrophil cytosolic factor 1 | Often (30–79%) | In 1 condition |
| NDUFA2NADH:ubiquinone oxidoreductase subunit A2 | Often (30–79%) | In 1 condition |
| NDUFC2NADH:ubiquinone oxidoreductase subunit C2 | Often (30–79%) | In 1 condition |
| NDUFV1NADH:ubiquinone oxidoreductase core subunit V1 | Often (30–79%) | In 1 condition |
| NEFHneurofilament heavy chain | Often (30–79%) | In 2 conditions |
| NEK1NIMA related kinase 1 | Often (30–79%) | In 2 conditions |
| NHLRC1NHL repeat containing E3 ubiquitin protein ligase 1 | Often (30–79%) | In 1 condition |
| NODALnodal growth differentiation factor | Often (30–79%) | In 4 conditions |
| NOTCH3notch receptor 3 | Often (30–79%) | In 2 conditions |
| NOVA2NOVA alternative splicing regulator 2 | Often (30–79%) | In 1 condition |
| NTNG1netrin G1 | Often (30–79%) | In 1 condition |
| NTNG2netrin G2 | Often (30–79%) | In 1 condition |
| NUP54nucleoporin 54 | Often (30–79%) | In 1 condition |
| NUP62nucleoporin 62 | Often (30–79%) | In 2 conditions |
| OPTNoptineurin | Often (30–79%) | In 1 condition |
| PANK2pantothenate kinase 2 | Often (30–79%) | In 3 conditions |
| PEX1peroxisomal biogenesis factor 1 | Often (30–79%) | In 1 condition |
| PEX10peroxisomal biogenesis factor 10 | Often (30–79%) | In 1 condition |
| PEX11Bperoxisomal biogenesis factor 11 beta | Often (30–79%) | In 1 condition |
| PEX12peroxisomal biogenesis factor 12 | Often (30–79%) | In 1 condition |
| PEX13peroxisomal biogenesis factor 13 | Often (30–79%) | In 1 condition |
| PEX14peroxisomal biogenesis factor 14 | Often (30–79%) | In 1 condition |
| PEX16peroxisomal biogenesis factor 16 | Often (30–79%) | In 2 conditions |
| PEX19peroxisomal biogenesis factor 19 | Often (30–79%) | In 1 condition |
| PEX2peroxisomal biogenesis factor 2 | Often (30–79%) | In 1 condition |
| PEX26peroxisomal biogenesis factor 26 | Often (30–79%) | In 1 condition |
| PEX3peroxisomal biogenesis factor 3 | Often (30–79%) | In 1 condition |
| PEX5peroxisomal biogenesis factor 5 | Often (30–79%) | In 1 condition |
| PEX6peroxisomal biogenesis factor 6 | Often (30–79%) | In 1 condition |
| PFN1profilin 1 | Often (30–79%) | In 2 conditions |
| PHGDHphosphoglycerate dehydrogenase | Often (30–79%) | In 1 condition |
| PI4KAphosphatidylinositol 4-kinase alpha | Often (30–79%) | In 1 condition |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Often (30–79%) | In 1 condition |
| PLA2G6phospholipase A2 group VI | Often (30–79%) | In 4 conditions |
| PLCH1phospholipase C eta 1 | Often (30–79%) | In 1 condition |
| PNPLA6patatin like domain 6, lysophospholipase | Often (30–79%) | In 1 condition |
| POLGDNA polymerase gamma, catalytic subunit | Often (30–79%) | In 1 condition |
| POLR1CRNA polymerase I and III subunit C | Often (30–79%) | In 1 condition |
| POLR3ARNA polymerase III subunit A | Often (30–79%) | In 3 conditions |
| POLR3BRNA polymerase III subunit B | Often (30–79%) | In 3 conditions |
| PQBP1polyglutamine binding protein 1 | Often (30–79%) | In 3 conditions |
| PRPHperipherin | Often (30–79%) | In 2 conditions |
| PTCH1patched 1 | Often (30–79%) | In 4 conditions |
| PYCR2pyrroline-5-carboxylate reductase 2 | Often (30–79%) | In 2 conditions |
| RAB11BRAB11B, member RAS oncogene family | Often (30–79%) | In 1 condition |
| RALGAPA1Ral GTPase activating protein catalytic subunit alpha 1 | Often (30–79%) | In 1 condition |
| RANBP2RAN binding protein 2 | Often (30–79%) | In 1 condition |
| RARS2arginyl-tRNA synthetase 2, mitochondrial | Often (30–79%) | In 1 condition |
| RBMXRNA binding motif protein X-linked | Often (30–79%) | In 2 conditions |
| RFC2replication factor C subunit 2 | Often (30–79%) | In 1 condition |
| RNF13ring finger protein 13 | Often (30–79%) | In 1 condition |
| RRP12ribosomal RNA processing 12 homolog | Often (30–79%) | In 1 condition |
| RUSC2RUN and SH3 domain containing 2 | Often (30–79%) | In 1 condition |
| SACSsacsin molecular chaperone | Often (30–79%) | In 2 conditions |
| SCYL1SCY1 like pseudokinase 1 | Often (30–79%) | In 2 conditions |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Often (30–79%) | In 2 conditions |
| SDHAF1succinate dehydrogenase complex assembly factor 1 | Often (30–79%) | In 1 condition |
| SDHDsuccinate dehydrogenase complex subunit D | Often (30–79%) | In 1 condition |
| SHHsonic hedgehog signaling molecule | Often (30–79%) | In 4 conditions |
| SIL1SIL1 nucleotide exchange factor | Often (30–79%) | In 2 conditions |
| SIX3SIX homeobox 3 | Often (30–79%) | In 4 conditions |
| SLC12A6solute carrier family 12 member 6 | Often (30–79%) | In 1 condition |
| SLC16A2solute carrier family 16 member 2 | Often (30–79%) | In 1 condition |
| SLC39A14solute carrier family 39 member 14 | Often (30–79%) | In 2 conditions |
| SLC5A6solute carrier family 5 member 6 | Often (30–79%) | In 1 condition |
| SMC1Astructural maintenance of chromosomes 1A | Often (30–79%) | In 2 conditions |
| SNCAsynuclein alpha | Often (30–79%) | In 2 conditions |
| SOD1superoxide dismutase 1 | Often (30–79%) | In 2 conditions |
| SPARTspartin | Often (30–79%) | In 1 condition |
| SPASTspastin | Often (30–79%) | In 1 condition |
| SPG21SPG21 abhydrolase domain containing, maspardin | Often (30–79%) | In 1 condition |
| SQSTM1sequestosome 1 | Often (30–79%) | In 1 condition |
| SRPX2sushi repeat containing protein X-linked 2 | Often (30–79%) | In 1 condition |
| STAG2STAG2 cohesin complex component | Often (30–79%) | In 2 conditions |
| STILSTIL centriolar assembly protein | Often (30–79%) | In 4 conditions |
| STN1STN1 subunit of CST complex | Often (30–79%) | In 1 condition |
| STX1Asyntaxin 1A | Often (30–79%) | In 1 condition |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Often (30–79%) | In 2 conditions |
| TAF1TATA-box binding protein associated factor 1 | Often (30–79%) | In 1 condition |
| TAF15TATA-box binding protein associated factor 15 | Often (30–79%) | In 1 condition |
| TAF2TATA-box binding protein associated factor 2 | Often (30–79%) | In 2 conditions |
| TARDBPTAR DNA binding protein | Often (30–79%) | In 2 conditions |
| TBK1TANK binding kinase 1 | Often (30–79%) | In 1 condition |
| TBL2transducin beta like 2 | Often (30–79%) | In 1 condition |
| TBPTATA-box binding protein | Often (30–79%) | In 1 condition |
| TELO2telomere maintenance 2 | Often (30–79%) | In 2 conditions |
| TGFB1transforming growth factor beta 1 | Often (30–79%) | In 1 condition |
| TGIF1TGFB induced factor homeobox 1 | Often (30–79%) | In 4 conditions |
| TMEM270transmembrane protein 270 | Often (30–79%) | In 1 condition |
| TOE1target of EGR1, exonuclease | Often (30–79%) | In 2 conditions |
| TPK1thiamin pyrophosphokinase 1 | Often (30–79%) | In 1 condition |
| TRAPPC12trafficking protein particle complex subunit 12 | Often (30–79%) | In 1 condition |
| TREM2triggering receptor expressed on myeloid cells 2 | Often (30–79%) | In 3 conditions |
| TUBA1Atubulin alpha 1a | Often (30–79%) | In 1 condition |
| TUBA4Atubulin alpha 4a | Often (30–79%) | In 1 condition |
| TUBB3tubulin beta 3 class III | Often (30–79%) | In 2 conditions |
| TYROBPtransmembrane immune signaling adaptor TYROBP | Often (30–79%) | In 2 conditions |
| UBQLN2ubiquilin 2 | Often (30–79%) | In 1 condition |
| UGDHUDP-glucose 6-dehydrogenase | Often (30–79%) | In 1 condition |
| UGP2UDP-glucose pyrophosphorylase 2 | Often (30–79%) | In 1 condition |
| UNC13Aunc-13 homolog A | Often (30–79%) | In 1 condition |
| VAPBVAMP associated protein B and C | Often (30–79%) | In 1 condition |
| VCPvalosin containing protein | Often (30–79%) | In 2 conditions |
| VPS11VPS11 core subunit of CORVET and HOPS complexes | Often (30–79%) | In 2 conditions |
| VPS13Cvacuolar protein sorting 13 homolog C | Often (30–79%) | In 2 conditions |
| VPS13Dvacuolar protein sorting 13 homolog D | Often (30–79%) | In 1 condition |
| VPS37DVPS37D subunit of ESCRT-I | Often (30–79%) | In 1 condition |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Often (30–79%) | In 1 condition |
| WDR73WD repeat domain 73 | Often (30–79%) | In 2 conditions |
| ZEB2zinc finger E-box binding homeobox 2 | Often (30–79%) | In 2 conditions |
| ZFYVE26zinc finger FYVE-type containing 26 | Often (30–79%) | In 1 condition |
| ZIC2Zic family zinc finger 2 | Often (30–79%) | In 4 conditions |
| ZNF592zinc finger protein 592 | Often (30–79%) | In 1 condition |
| ABHD12abhydrolase domain containing 12, lysophospholipase | Sometimes (5–29%) | In 1 condition |
| ACAT1acetyl-CoA acetyltransferase 1 | Sometimes (5–29%) | In 1 condition |
| ACTL6Bactin like 6B | Sometimes (5–29%) | In 1 condition |
| ADARB1adenosine deaminase RNA specific B1 | Sometimes (5–29%) | In 1 condition |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Sometimes (5–29%) | In 1 condition |
| ARL6ARF like GTPase 6 | Sometimes (5–29%) | In 1 condition |
| ARSAarylsulfatase A | Sometimes (5–29%) | In 3 conditions |
| ASAH1N-acylsphingosine amidohydrolase 1 | Sometimes (5–29%) | In 1 condition |
| ASPAaspartoacylase | Sometimes (5–29%) | In 1 condition |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Sometimes (5–29%) | In 1 condition |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Sometimes (5–29%) | In 1 condition |
| AUHAU RNA binding methylglutaconyl-CoA hydratase | Sometimes (5–29%) | In 1 condition |
| AUTS2activator of transcription and developmental regulator AUTS2 | Sometimes (5–29%) | In 1 condition |
| BBIP1BBSome interacting protein 1 | Sometimes (5–29%) | In 1 condition |
| BBS1Bardet-Biedl syndrome 1 | Sometimes (5–29%) | In 1 condition |
| BBS10Bardet-Biedl syndrome 10 | Sometimes (5–29%) | In 1 condition |
| BBS12Bardet-Biedl syndrome 12 | Sometimes (5–29%) | In 1 condition |
| BBS2Bardet-Biedl syndrome 2 | Sometimes (5–29%) | In 1 condition |
| BBS4Bardet-Biedl syndrome 4 | Sometimes (5–29%) | In 1 condition |
| BBS5Bardet-Biedl syndrome 5 | Sometimes (5–29%) | In 1 condition |
| BBS7Bardet-Biedl syndrome 7 | Sometimes (5–29%) | In 1 condition |
| BBS9Bardet-Biedl syndrome 9 | Sometimes (5–29%) | In 1 condition |
| BCL11BBCL11 transcription factor B | Sometimes (5–29%) | In 1 condition |
| BEAN1brain expressed associated with NEDD4 1 | Sometimes (5–29%) | In 1 condition |
| BRPF1bromodomain and PHD finger containing 1 | Sometimes (5–29%) | In 1 condition |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Sometimes (5–29%) | In 1 condition |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Sometimes (5–29%) | In 1 condition |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Sometimes (5–29%) | In 1 condition |
| CARS1cysteinyl-tRNA synthetase 1 | Sometimes (5–29%) | In 1 condition |
| CDK19cyclin dependent kinase 19 | Sometimes (5–29%) | In 1 condition |
| CELF2CUGBP Elav-like family member 2 | Sometimes (5–29%) | In 1 condition |
| CEP19centrosomal protein 19 | Sometimes (5–29%) | In 1 condition |
| CEP290centrosomal protein 290 | Sometimes (5–29%) | In 1 condition |
| CEP85Lcentrosomal protein 85L | Sometimes (5–29%) | In 1 condition |
| CFAP418cilia and flagella associated protein 418 | Sometimes (5–29%) | In 1 condition |
| CHMP1Acharged multivesicular body protein 1A | Sometimes (5–29%) | In 1 condition |
| CITcitron rho-interacting serine/threonine kinase | Sometimes (5–29%) | In 1 condition |
| CLTCclathrin heavy chain | Sometimes (5–29%) | In 2 conditions |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Sometimes (5–29%) | In 1 condition |
| CNTNAP2contactin associated protein 2 | Sometimes (5–29%) | In 1 condition |
| CRELD1CRELD disulfide isomerase 1 | Sometimes (5–29%) | In 1 condition |
| CYB5Acytochrome b5 type A | Sometimes (5–29%) | In 1 condition |
| CYB5R3cytochrome b5 reductase 3 | Sometimes (5–29%) | In 1 condition |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Sometimes (5–29%) | In 2 conditions |
| DALRD3DALR anticodon binding domain containing 3 | Sometimes (5–29%) | In 1 condition |
| DBR1debranching RNA lariats 1 | Sometimes (5–29%) | In 1 condition |
| DDB2damage specific DNA binding protein 2 | Sometimes (5–29%) | In 1 condition |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Sometimes (5–29%) | In 1 condition |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Sometimes (5–29%) | In 2 conditions |
| DHPSdeoxyhypusine synthase | Sometimes (5–29%) | In 1 condition |
| DMXL2Dmx like 2 | Sometimes (5–29%) | In 1 condition |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Sometimes (5–29%) | In 2 conditions |
| DNM1dynamin 1 | Sometimes (5–29%) | In 1 condition |
| DNMT1DNA methyltransferase 1 | Sometimes (5–29%) | In 2 conditions |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Sometimes (5–29%) | In 1 condition |
| EBF3EBF transcription factor 3 | Sometimes (5–29%) | In 1 condition |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Sometimes (5–29%) | In 1 condition |
| ELOVL4ELOVL fatty acid elongase 4 | Sometimes (5–29%) | In 1 condition |
| EXOSC3exosome component 3 | Sometimes (5–29%) | In 2 conditions |
| EXOSC8exosome component 8 | Sometimes (5–29%) | In 1 condition |
| FBXO28F-box protein 28 | Sometimes (5–29%) | In 1 condition |
| FGF12fibroblast growth factor 12 | Sometimes (5–29%) | In 1 condition |
| FXNfrataxin | Sometimes (5–29%) | In 1 condition |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Sometimes (5–29%) | In 2 conditions |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Sometimes (5–29%) | In 2 conditions |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Sometimes (5–29%) | In 1 condition |
| GCH1GTP cyclohydrolase 1 | Sometimes (5–29%) | In 1 condition |
| GFM1G elongation factor mitochondrial 1 | Sometimes (5–29%) | In 2 conditions |
| GMPPAGDP-mannose pyrophosphorylase A | Sometimes (5–29%) | In 1 condition |
| GNAO1G protein subunit alpha o1 | Sometimes (5–29%) | In 2 conditions |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Sometimes (5–29%) | In 1 condition |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Sometimes (5–29%) | In 1 condition |
| GRM1glutamate metabotropic receptor 1 | Sometimes (5–29%) | In 1 condition |
| GRM7glutamate metabotropic receptor 7 | Sometimes (5–29%) | In 1 condition |
| GTF2E2general transcription factor IIE subunit 2 | Sometimes (5–29%) | In 1 condition |
| GTF2H5general transcription factor IIH subunit 5 | Sometimes (5–29%) | In 1 condition |
| H3-3AH3.3 histone A | Sometimes (5–29%) | In 1 condition |
| H4C5H4 clustered histone 5 | Sometimes (5–29%) | In 1 condition |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Sometimes (5–29%) | In 1 condition |
| HTRA2HtrA serine peptidase 2 | Sometimes (5–29%) | In 1 condition |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Sometimes (5–29%) | In 1 condition |
| IFT172intraflagellar transport 172 | Sometimes (5–29%) | In 1 condition |
| IFT27intraflagellar transport 27 | Sometimes (5–29%) | In 1 condition |
| IFT56intraflagellar transport 56 | Sometimes (5–29%) | In 1 condition |
| IFT74intraflagellar transport 74 | Sometimes (5–29%) | In 1 condition |
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Sometimes (5–29%) | In 2 conditions |
| IRF2BPLinterferon regulatory factor 2 binding protein like | Sometimes (5–29%) | In 1 condition |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Sometimes (5–29%) | In 1 condition |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Sometimes (5–29%) | In 1 condition |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Sometimes (5–29%) | In 1 condition |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Sometimes (5–29%) | In 1 condition |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Sometimes (5–29%) | In 1 condition |
| KCNC3potassium voltage-gated channel subfamily C member 3 | Sometimes (5–29%) | In 1 condition |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Sometimes (5–29%) | In 1 condition |
| KIF11kinesin family member 11 | Sometimes (5–29%) | In 1 condition |
| KMT2Blysine methyltransferase 2B | Sometimes (5–29%) | In 1 condition |
| LRRK2leucine rich repeat kinase 2 | Sometimes (5–29%) | In 1 condition |
| LZTFL1leucine zipper transcription factor like 1 | Sometimes (5–29%) | In 1 condition |
| MCCC1methylcrotonyl-CoA carboxylase subunit 1 | Sometimes (5–29%) | In 1 condition |
| MCCC2methylcrotonyl-CoA carboxylase subunit 2 | Sometimes (5–29%) | In 1 condition |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Sometimes (5–29%) | In 1 condition |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Sometimes (5–29%) | In 2 conditions |
| MED25mediator complex subunit 25 | Sometimes (5–29%) | In 2 conditions |
| MFN2mitofusin 2 | Sometimes (5–29%) | In 1 condition |
| MKKSMKKS centrosomal shuttling protein | Sometimes (5–29%) | In 1 condition |
| MKS1MKS transition zone complex subunit 1 | Sometimes (5–29%) | In 1 condition |
| MORC2MORC family CW-type zinc finger 2 | Sometimes (5–29%) | In 1 condition |
| MPLKIPM-phase specific PLK1 interacting protein | Sometimes (5–29%) | In 1 condition |
| MTO1mitochondrial tRNA translation optimization 1 | Sometimes (5–29%) | In 1 condition |
| MYO5Amyosin VA | Sometimes (5–29%) | In 1 condition |
| NACC1nucleus accumbens associated 1 | Sometimes (5–29%) | In 2 conditions |
| NAXENAD(P)HX epimerase | Sometimes (5–29%) | In 1 condition |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Sometimes (5–29%) | In 1 condition |
| NECAP1NECAP endocytosis associated 1 | Sometimes (5–29%) | In 1 condition |
| NEU1neuraminidase 1 | Sometimes (5–29%) | In 2 conditions |
| NEUROD2neuronal differentiation 2 | Sometimes (5–29%) | In 1 condition |
| NPHP1nephrocystin 1 | Sometimes (5–29%) | In 1 condition |
| NR2F1nuclear receptor subfamily 2 group F member 1 | Sometimes (5–29%) | In 2 conditions |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Sometimes (5–29%) | In 1 condition |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Sometimes (5–29%) | In 1 condition |
| ODC1ornithine decarboxylase 1 | Sometimes (5–29%) | In 1 condition |
| OPA1OPA1 mitochondrial dynamin like GTPase | Sometimes (5–29%) | In 2 conditions |
| OTUD6BOTU deubiquitinase 6B | Sometimes (5–29%) | In 1 condition |
| PACS2phosphofurin acidic cluster sorting protein 2 | Sometimes (5–29%) | In 1 condition |
| PARK7Parkinsonism associated deglycase | Sometimes (5–29%) | In 1 condition |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Sometimes (5–29%) | In 2 conditions |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Sometimes (5–29%) | In 1 condition |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Sometimes (5–29%) | In 1 condition |
| PINK1PTEN induced kinase 1 | Sometimes (5–29%) | In 1 condition |
| PMPCApeptidase, mitochondrial processing subunit alpha | Sometimes (5–29%) | In 2 conditions |
| PNKPpolynucleotide kinase 3'-phosphatase | Sometimes (5–29%) | In 1 condition |
| PNPpurine nucleoside phosphorylase | Sometimes (5–29%) | In 1 condition |
| PODXLpodocalyxin like | Sometimes (5–29%) | In 1 condition |
| POLA1DNA polymerase alpha 1, catalytic subunit | Sometimes (5–29%) | In 1 condition |
| POU3F3POU class 3 homeobox 3 | Sometimes (5–29%) | In 1 condition |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Sometimes (5–29%) | In 2 conditions |
| PRKNparkin RBR E3 ubiquitin protein ligase | Sometimes (5–29%) | In 1 condition |
| RAB3ARAB3A, member RAS oncogene family | Sometimes (5–29%) | In 1 condition |
| RHOBTB2Rho related BTB domain containing 2 | Sometimes (5–29%) | In 1 condition |
| RNF113Aring finger protein 113A | Sometimes (5–29%) | In 1 condition |
| RNU4-2RNA, U4 small nuclear 2 | Sometimes (5–29%) | In 1 condition |
| RTTNrotatin | Sometimes (5–29%) | In 2 conditions |
| SATB1SATB homeobox 1 | Sometimes (5–29%) | In 2 conditions |
| SCAPERS-phase cyclin A associated protein in the ER | Sometimes (5–29%) | In 1 condition |
| SCLT1sodium channel and clathrin linker 1 | Sometimes (5–29%) | In 1 condition |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Sometimes (5–29%) | In 1 condition |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Sometimes (5–29%) | In 2 conditions |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Sometimes (5–29%) | In 1 condition |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Sometimes (5–29%) | In 1 condition |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Sometimes (5–29%) | In 1 condition |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Sometimes (5–29%) | In 1 condition |
| SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | Sometimes (5–29%) | In 1 condition |
| SETD5SET domain containing 5 | Sometimes (5–29%) | In 1 condition |
| SIK1salt inducible kinase 1 | Sometimes (5–29%) | In 1 condition |
| SLC1A2solute carrier family 1 member 2 | Sometimes (5–29%) | In 2 conditions |
| SLC25A46solute carrier family 25 member 46 | Sometimes (5–29%) | In 1 condition |
| SLC32A1solute carrier family 32 member 1 | Sometimes (5–29%) | In 1 condition |
| SLC38A3solute carrier family 38 member 3 | Sometimes (5–29%) | In 1 condition |
| SLITRK2SLIT and NTRK like family member 2 | Sometimes (5–29%) | In 1 condition |
| SMPD1sphingomyelin phosphodiesterase 1 | Sometimes (5–29%) | In 2 conditions |
| SNORD118small nucleolar RNA, C/D box 118 | Sometimes (5–29%) | In 2 conditions |
| SNX14sorting nexin 14 | Sometimes (5–29%) | In 2 conditions |
| SONSON DNA and RNA binding protein | Sometimes (5–29%) | In 2 conditions |
| SPTBN2spectrin beta, non-erythrocytic 2 | Sometimes (5–29%) | In 2 conditions |
| SRD5A3steroid 5 alpha-reductase 3 | Sometimes (5–29%) | In 1 condition |
| STUB1STIP1 homology and U-box containing protein 1 | Sometimes (5–29%) | In 1 condition |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Sometimes (5–29%) | In 1 condition |
| SYNJ1synaptojanin 1 | Sometimes (5–29%) | In 2 conditions |
| SZT2SZT2 subunit of KICSTOR complex | Sometimes (5–29%) | In 1 condition |
| TARS1threonyl-tRNA synthetase 1 | Sometimes (5–29%) | In 1 condition |
| THOC2THO complex subunit 2 | Sometimes (5–29%) | In 1 condition |
| TIMM50translocase of inner mitochondrial membrane 50 | Sometimes (5–29%) | In 2 conditions |
| TP53RKTP53 regulating kinase | Sometimes (5–29%) | In 1 condition |
| TRAK1trafficking kinesin protein 1 | Sometimes (5–29%) | In 2 conditions |
| TRIM32tripartite motif containing 32 | Sometimes (5–29%) | In 1 condition |
| TRIM8tripartite motif containing 8 | Sometimes (5–29%) | In 1 condition |
| TSEN15tRNA splicing endonuclease subunit 15 | Sometimes (5–29%) | In 1 condition |
| TSEN34tRNA splicing endonuclease subunit 34 | Sometimes (5–29%) | In 1 condition |
| TSEN54tRNA splicing endonuclease subunit 54 | Sometimes (5–29%) | In 2 conditions |
| TTC8tetratricopeptide repeat domain 8 | Sometimes (5–29%) | In 1 condition |
| TUBGCP2tubulin gamma complex component 2 | Sometimes (5–29%) | In 1 condition |
| UCHL1ubiquitin C-terminal hydrolase L1 | Sometimes (5–29%) | In 1 condition |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Sometimes (5–29%) | In 1 condition |
| UFSP2UFM1 specific peptidase 2 | Sometimes (5–29%) | In 1 condition |
| VRK1VRK serine/threonine kinase 1 | Sometimes (5–29%) | In 1 condition |
| WASHC4WASH complex subunit 4 | Sometimes (5–29%) | In 1 condition |
| WDPCPWD repeat containing planar cell polarity effector | Sometimes (5–29%) | In 1 condition |
| WDR45BWD repeat domain 45B | Sometimes (5–29%) | In 1 condition |
| XPAXPA, DNA damage recognition and repair factor | Sometimes (5–29%) | In 2 conditions |
| XPCXPC complex subunit, DNA damage recognition and repair factor | Sometimes (5–29%) | In 1 condition |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Sometimes (5–29%) | In 1 condition |
| DNM1Ldynamin 1L | Rarely (1–4%) | In 1 condition |
| FDX2ferredoxin 2 | Rarely (1–4%) | In 1 condition |
| GRIA2glutamate ionotropic receptor AMPA type subunit 2 | Rarely (1–4%) | In 1 condition |
| HMGCL3-hydroxy-3-methylglutaryl-CoA lyase | Rarely (1–4%) | In 2 conditions |
| NEFLneurofilament light chain | Rarely (1–4%) | In 1 condition |
| PPIBpeptidylprolyl isomerase B | Rarely (1–4%) | In 1 condition |
| SETBP1SET binding protein 1 | Rarely (1–4%) | In 1 condition |
| SPTBN1spectrin beta, non-erythrocytic 1 | Rarely (1–4%) | In 1 condition |
| STXBP1syntaxin binding protein 1 | Rarely (1–4%) | In 1 condition |
| ABCC8ATP binding cassette subfamily C member 8 | Not recorded | In 1 condition |
| ADAM22ADAM metallopeptidase domain 22 | Not recorded | In 1 condition |
| ADSLadenylosuccinate lyase | Not recorded | In 1 condition |
| AGAaspartylglucosaminidase | Not recorded | In 1 condition |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Not recorded | In 1 condition |
| ATP13A2ATPase cation transporting 13A2 | Not recorded | In 1 condition |
| ATRXATRX chromatin remodeler | Not recorded | In 1 condition |
| ATXN1ataxin 1 | Not recorded | In 1 condition |
| ATXN7ataxin 7 | Not recorded | In 1 condition |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Not recorded | In 1 condition |
| BCS1LBCS1 ubiquinol-cytochrome c reductase complex chaperone | Not recorded | In 1 condition |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Not recorded | In 1 condition |
| CNTNAP1contactin associated protein 1 | Not recorded | In 1 condition |
| COL4A1collagen type IV alpha 1 chain | Not recorded | In 1 condition |
| CTC1CST telomere replication complex component 1 | Not recorded | In 1 condition |
| DCXdoublecortin | Not recorded | In 1 condition |
| DENND5ADENN domain containing 5A | Not recorded | In 1 condition |
| DYNC1I2dynein cytoplasmic 1 intermediate chain 2 | Not recorded | In 1 condition |
| ECHS1enoyl-CoA hydratase, short chain 1 | Not recorded | In 1 condition |
| EIF2B1eukaryotic translation initiation factor 2B subunit alpha | Not recorded | In 1 condition |
| EML1EMAP like 1 | Not recorded | In 1 condition |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Not recorded | In 1 condition |
| FTLferritin light chain | Not recorded | In 1 condition |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Not recorded | In 1 condition |
| GLRX5glutaredoxin 5 | Not recorded | In 1 condition |
| GRIN2Bglutamate ionotropic receptor NMDA type subunit 2B | Not recorded | In 2 conditions |
| HLA-DQB1major histocompatibility complex, class II, DQ beta 1 | Not recorded | In 1 condition |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Not recorded | In 1 condition |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Not recorded | In 1 condition |
| HTThuntingtin | Not recorded | In 1 condition |
| ITM2Bintegral membrane protein 2B | Not recorded | In 2 conditions |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Not recorded | In 1 condition |
| MAN2B1mannosidase alpha class 2B member 1 | Not recorded | In 1 condition |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Not recorded | In 1 condition |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Not recorded | In 1 condition |
| MT-TImitochondrially encoded tRNA-Ile (AUU/C) | Not recorded | In 1 condition |
| MT-TPmitochondrially encoded tRNA-Pro (CCN) | Not recorded | In 1 condition |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Not recorded | In 1 condition |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Not recorded | In 1 condition |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Not recorded | In 1 condition |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Not recorded | In 1 condition |
| NDUFV2NADH:ubiquinone oxidoreductase core subunit V2 | Not recorded | In 1 condition |
| NPC1NPC intracellular cholesterol transporter 1 | Not recorded | In 1 condition |
| NPC2NPC intracellular cholesterol transporter 2 | Not recorded | In 1 condition |
| NSUN2NOP2/Sun RNA methyltransferase 2 | Not recorded | In 1 condition |
| NUP214nucleoporin 214 | Not recorded | In 1 condition |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Not recorded | In 1 condition |
| OPHN1oligophrenin 1 | Not recorded | In 1 condition |
| OSGEPO-sialoglycoprotein endopeptidase | Not recorded | In 1 condition |
| PCLOpiccolo presynaptic cytomatrix protein | Not recorded | In 1 condition |
| PEX7peroxisomal biogenesis factor 7 | Not recorded | In 1 condition |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Not recorded | In 1 condition |
| PMPCBpeptidase, mitochondrial processing subunit beta | Not recorded | In 1 condition |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Not recorded | In 1 condition |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Not recorded | In 1 condition |
| PPT1palmitoyl-protein thioesterase 1 | Not recorded | In 1 condition |
| PRDM8PR/SET domain 8 | Not recorded | In 1 condition |
| PRNPprion protein (Kanno blood group) | Not recorded | In 1 condition |
| RAB27ARAB27A, member RAS oncogene family | Not recorded | In 1 condition |
| RFT1RFT1 glycolipid translocator homolog | Not recorded | In 1 condition |
| RLIMring finger protein, LIM domain interacting | Not recorded | In 1 condition |
| RPIAribose 5-phosphate isomerase A | Not recorded | In 1 condition |
| SLC12A2solute carrier family 12 member 2 | Not recorded | In 1 condition |
| SLC17A5solute carrier family 17 member 5 | Not recorded | In 1 condition |
| SLC25A15solute carrier family 25 member 15 | Not recorded | In 1 condition |
| SLC6A8solute carrier family 6 member 8 | Not recorded | In 1 condition |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Not recorded | In 1 condition |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Not recorded | In 1 condition |
| SUMF1sulfatase modifying factor 1 | Not recorded | In 1 condition |
| TCF20transcription factor 20 | Not recorded | In 1 condition |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Not recorded | In 1 condition |
| TMEM67transmembrane protein 67 | Not recorded | In 1 condition |
| TPI1triosephosphate isomerase 1 | Not recorded | In 1 condition |
| TTRtransthyretin | Not recorded | In 1 condition |
| TUFMTu translation elongation factor, mitochondrial | Not recorded | In 1 condition |
| TXN2thioredoxin 2 | Not recorded | In 1 condition |
| UFM1ubiquitin fold modifier 1 | Not recorded | In 1 condition |
| UNC80unc-80 subunit of NALCN channel complex | Not recorded | In 1 condition |
| ZC4H2zinc finger C4H2-type containing | Not recorded | In 2 conditions |
| ZNF335zinc finger protein 335 | Not recorded | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
Narrower traits
Broader traits
Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
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