Trait
Tremor
An unintentional, oscillating to-and-fro muscle movement about a joint axis.
Summary
- Also called
- Tremors
- Body system
- Abnormality of the nervous system
Reference genomeGRCh38hg38
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Changes in these genes cause rare conditions in which Tremor 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 |
|---|---|---|
| ADCY5adenylate cyclase 5 | Always | In 2 conditions |
| AMACRalpha-methylacyl-CoA racemase | Always | In 2 conditions |
| APTXaprataxin | Always | In 2 conditions |
| ASNSasparagine synthetase (glutamine-hydrolyzing) | Always | In 1 condition |
| ATP13A2ATPase cation transporting 13A2 | Always | In 2 conditions |
| ATP7BATPase copper transporting beta | Always | In 2 conditions |
| ATXN7ataxin 7 | Always | In 1 condition |
| CNTN2contactin 2 | Always | In 1 condition |
| COA7cytochrome c oxidase assembly factor 7 | Always | In 1 condition |
| COQ2coenzyme Q2, polyprenyltransferase | Always | In 2 conditions |
| CRATcarnitine O-acetyltransferase | Always | In 1 condition |
| CST3cystatin C | Always | In 1 condition |
| CYB5R3cytochrome b5 reductase 3 | Always | In 1 condition |
| DNM1Ldynamin 1L | Always | In 2 conditions |
| GCH1GTP cyclohydrolase 1 | Always | In 1 condition |
| GRM1glutamate metabotropic receptor 1 | Always | In 1 condition |
| GTF3C3general transcription factor IIIC subunit 3 | Always | In 1 condition |
| GUK1guanylate kinase 1 | Always | In 1 condition |
| HTThuntingtin | Always | In 1 condition |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Always | In 1 condition |
| LSM7LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated | Always | In 1 condition |
| MAU2MAU2 sister chromatid cohesion factor | Always | In 1 condition |
| MRPL12mitochondrial ribosomal protein L12 | Always | In 1 condition |
| MYL2myosin light chain 2 | Always | In 1 condition |
| NONOnon-POU domain containing octamer binding | Always | In 1 condition |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Always | In 1 condition |
| PLA2G6phospholipase A2 group VI | Always | In 2 conditions |
| PLP1proteolipid protein 1 | Always | In 1 condition |
| PMP22peripheral myelin protein 22 | Always | In 1 condition |
| POLR1CRNA polymerase I and III subunit C | Always | In 1 condition |
| POLR3BRNA polymerase III subunit B | Always | In 2 conditions |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Always | In 1 condition |
| RAB32RAB32, member RAS oncogene family | Always | In 1 condition |
| RFC4replication factor C subunit 4 | Always | In 1 condition |
| RNU2-2RNA, U2 small nuclear 2 | Always | In 1 condition |
| RPS6KC1ribosomal protein S6 kinase C1 | Always | In 1 condition |
| SCO2synthesis of cytochrome C oxidase 2 | Always | In 1 condition |
| SCYL1SCY1 like pseudokinase 1 | Always | In 1 condition |
| SLC18A2solute carrier family 18 member A2 | Always | In 2 conditions |
| SLC6A17solute carrier family 6 member 17 | Always | In 1 condition |
Show 455 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| TMEM63Btransmembrane protein 63B | Always | In 1 condition |
| TNNT1troponin T1, slow skeletal type | Always | In 2 conditions |
| TOR1Atorsin family 1 member A | Always | In 1 condition |
| UBAP2Lubiquitin associated protein 2 like | Always | In 1 condition |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Always | In 1 condition |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Always | In 1 condition |
| UNC13Aunc-13 homolog A | Always | In 1 condition |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Always | In 3 conditions |
| YEATS2YEATS domain containing 2 | Always | In 1 condition |
| ATMATM serine/threonine kinase | Very often (80–99%) | In 2 conditions |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Very often (80–99%) | In 1 condition |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Very often (80–99%) | In 1 condition |
| CLCN7Cl-/H+ antiporter 7 | Very often (80–99%) | In 1 condition |
| CLIP2CAP-Gly domain containing linker protein 2 | Very often (80–99%) | In 1 condition |
| CUL4Bcullin 4B | Very often (80–99%) | In 2 conditions |
| DCTN1dynactin subunit 1 | Very often (80–99%) | In 2 conditions |
| DDOSTdolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit | Very often (80–99%) | In 1 condition |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Very often (80–99%) | In 1 condition |
| EIF4Heukaryotic translation initiation factor 4H | Very often (80–99%) | In 1 condition |
| ELNelastin | Very often (80–99%) | In 1 condition |
| FGF14fibroblast growth factor 14 | Very often (80–99%) | In 1 condition |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Very often (80–99%) | In 1 condition |
| GTF2Igeneral transcription factor IIi | Very often (80–99%) | In 1 condition |
| GTF2IRD1GTF2I repeat domain containing 1 | Very often (80–99%) | In 1 condition |
| GTF2IRD2GTF2I repeat domain containing 2 | Very often (80–99%) | In 1 condition |
| HNF4Ahepatocyte nuclear factor 4 alpha | Very often (80–99%) | In 1 condition |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Very often (80–99%) | In 2 conditions |
| KCNJ18potassium inwardly rectifying channel subfamily J member 18 | Very often (80–99%) | In 2 conditions |
| KIF1Ckinesin family member 1C | Very often (80–99%) | In 2 conditions |
| LIMK1LIM domain kinase 1 | Very often (80–99%) | In 1 condition |
| MARCHF6membrane associated ring-CH-type finger 6 | Very often (80–99%) | In 1 condition |
| MEN1menin 1 | Very often (80–99%) | In 1 condition |
| METTL27methyltransferase like 27 | Very often (80–99%) | In 1 condition |
| NCF1neutrophil cytosolic factor 1 | Very often (80–99%) | In 1 condition |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Very often (80–99%) | In 2 conditions |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Very often (80–99%) | In 1 condition |
| PRKNparkin RBR E3 ubiquitin protein ligase | Very often (80–99%) | In 2 conditions |
| RFC2replication factor C subunit 2 | Very often (80–99%) | In 1 condition |
| SNX10sorting nexin 10 | Very often (80–99%) | In 1 condition |
| STX1Asyntaxin 1A | Very often (80–99%) | In 1 condition |
| TBL2transducin beta like 2 | Very often (80–99%) | In 1 condition |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Very often (80–99%) | In 1 condition |
| TMEM270transmembrane protein 270 | Very often (80–99%) | In 1 condition |
| TNFSF11TNF superfamily member 11 | Very often (80–99%) | In 1 condition |
| VPS37DVPS37D subunit of ESCRT-I | Very often (80–99%) | In 1 condition |
| YY1YY1 transcription factor | Very often (80–99%) | In 3 conditions |
| ACBD6acyl-CoA binding domain containing 6 | Often (30–79%) | In 1 condition |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Often (30–79%) | In 2 conditions |
| ASAH1N-acylsphingosine amidohydrolase 1 | Often (30–79%) | In 2 conditions |
| ATG7autophagy related 7 | Often (30–79%) | In 1 condition |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Often (30–79%) | In 3 conditions |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Often (30–79%) | In 2 conditions |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Often (30–79%) | In 4 conditions |
| CACNA1Scalcium voltage-gated channel subunit alpha1 S | Often (30–79%) | In 1 condition |
| CAPRIN1cell cycle associated protein 1 | Often (30–79%) | In 1 condition |
| CCDC88Ccoiled-coil and HOOK domain protein 88C | Often (30–79%) | In 1 condition |
| CDH23cadherin related 23 | Often (30–79%) | In 1 condition |
| CLTRNcollectrin, amino acid transport regulator | Often (30–79%) | In 1 condition |
| CMPK2cytidine/uridine monophosphate kinase 2 | Often (30–79%) | In 1 condition |
| COQ5coenzyme Q5, methyltransferase | Often (30–79%) | In 1 condition |
| CTSFcathepsin F | Often (30–79%) | In 1 condition |
| DAB1DAB adaptor protein 1 | Often (30–79%) | In 2 conditions |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Often (30–79%) | In 2 conditions |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Often (30–79%) | In 2 conditions |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Often (30–79%) | In 1 condition |
| EIF2AK2eukaryotic translation initiation factor 2 alpha kinase 2 | Often (30–79%) | In 1 condition |
| ELOVL1ELOVL fatty acid elongase 1 | Often (30–79%) | In 1 condition |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Often (30–79%) | In 2 conditions |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Often (30–79%) | In 2 conditions |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Often (30–79%) | In 2 conditions |
| FRMPD4FERM and PDZ domain containing 4 | Often (30–79%) | In 1 condition |
| GABRA3gamma-aminobutyric acid type A receptor subunit alpha3 | Often (30–79%) | In 1 condition |
| GOSR2golgi SNAP receptor complex member 2 | Often (30–79%) | In 1 condition |
| GPAA1glycosylphosphatidylinositol anchor attachment 1 | Often (30–79%) | In 2 conditions |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Often (30–79%) | In 2 conditions |
| HEXBhexosaminidase subunit beta | Often (30–79%) | In 1 condition |
| HMGA2high mobility group AT-hook 2 | Often (30–79%) | In 1 condition |
| HPCAhippocalcin | Often (30–79%) | In 2 conditions |
| HTRA2HtrA serine peptidase 2 | Often (30–79%) | In 3 conditions |
| JAM2junctional adhesion molecule 2 | Often (30–79%) | In 2 conditions |
| LEMD3LEM domain containing 3 | Often (30–79%) | In 1 condition |
| LMNB1lamin B1 | Often (30–79%) | In 1 condition |
| LNPKlunapark, ER junction formation factor | Often (30–79%) | In 1 condition |
| LRRK2leucine rich repeat kinase 2 | Often (30–79%) | In 1 condition |
| MAPTmicrotubule associated protein tau | Often (30–79%) | In 6 conditions |
| MECP2methyl-CpG binding protein 2 | Often (30–79%) | In 3 conditions |
| MICU1mitochondrial calcium uptake 1 | Often (30–79%) | In 1 condition |
| MORC2MORC family CW-type zinc finger 2 | Often (30–79%) | In 1 condition |
| MRPS34mitochondrial ribosomal protein S34 | Often (30–79%) | In 1 condition |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Often (30–79%) | In 2 conditions |
| MYO5Amyosin VA | Often (30–79%) | In 1 condition |
| MYORGmyogenesis regulating glycosidase | Often (30–79%) | In 2 conditions |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Often (30–79%) | In 2 conditions |
| NAXENAD(P)HX epimerase | Often (30–79%) | In 2 conditions |
| NEU1neuraminidase 1 | Often (30–79%) | In 1 condition |
| NIT1nitrilase 1 | Often (30–79%) | In 1 condition |
| PARK7Parkinsonism associated deglycase | Often (30–79%) | In 1 condition |
| PDGFBplatelet derived growth factor subunit B | Often (30–79%) | In 2 conditions |
| PDGFRBplatelet derived growth factor receptor beta | Often (30–79%) | In 2 conditions |
| PDYNprodynorphin | Often (30–79%) | In 1 condition |
| PGK1phosphoglycerate kinase 1 | Often (30–79%) | In 1 condition |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Often (30–79%) | In 2 conditions |
| PINK1PTEN induced kinase 1 | Often (30–79%) | In 1 condition |
| PMM2phosphomannomutase 2 | Often (30–79%) | In 1 condition |
| PODXLpodocalyxin like | Often (30–79%) | In 1 condition |
| POLGDNA polymerase gamma, catalytic subunit | Often (30–79%) | In 2 conditions |
| POLR3ARNA polymerase III subunit A | Often (30–79%) | In 2 conditions |
| PRNPprion protein (Kanno blood group) | Often (30–79%) | In 2 conditions |
| PUS7pseudouridine synthase 7 | Often (30–79%) | In 1 condition |
| RAB3ARAB3A, member RAS oncogene family | Often (30–79%) | In 1 condition |
| REPS1RALBP1 associated Eps domain containing 1 | Often (30–79%) | In 1 condition |
| RORARAR related orphan receptor A | Often (30–79%) | In 1 condition |
| RRP12ribosomal RNA processing 12 homolog | Often (30–79%) | In 1 condition |
| SETXsenataxin | Often (30–79%) | In 1 condition |
| SFXN4sideroflexin 4 | Often (30–79%) | In 1 condition |
| SLC20A2solute carrier family 20 member 2 | Often (30–79%) | In 2 conditions |
| SLC25A13solute carrier family 25 member 13 | Often (30–79%) | In 1 condition |
| SLC39A14solute carrier family 39 member 14 | Often (30–79%) | In 2 conditions |
| SLC6A19solute carrier family 6 member 19 | Often (30–79%) | In 1 condition |
| SLC6A3solute carrier family 6 member 3 | Often (30–79%) | In 1 condition |
| SNCAsynuclein alpha | Often (30–79%) | In 1 condition |
| SPRsepiapterin reductase | Often (30–79%) | In 2 conditions |
| SYNJ1synaptojanin 1 | Often (30–79%) | In 3 conditions |
| TFGtrafficking from ER to golgi regulator | Often (30–79%) | In 1 condition |
| THOC2THO complex subunit 2 | Often (30–79%) | In 2 conditions |
| TMEM240transmembrane protein 240 | Often (30–79%) | In 1 condition |
| TRMT5tRNA methyltransferase 5 | Often (30–79%) | In 1 condition |
| TUBB4Atubulin beta 4A class IVa | Often (30–79%) | In 1 condition |
| UBE3Cubiquitin protein ligase E3C | Often (30–79%) | In 1 condition |
| UCHL1ubiquitin C-terminal hydrolase L1 | Often (30–79%) | In 1 condition |
| VPS13Cvacuolar protein sorting 13 homolog C | Often (30–79%) | In 1 condition |
| WDR45WD repeat domain 45 | Often (30–79%) | In 2 conditions |
| WFS1wolframin ER transmembrane glycoprotein | Often (30–79%) | In 1 condition |
| XPR1xenotropic and polytropic retrovirus receptor 1 | Often (30–79%) | In 2 conditions |
| ZNF142zinc finger protein 142 | Often (30–79%) | In 1 condition |
| AARS1alanyl-tRNA synthetase 1 | Sometimes (5–29%) | In 1 condition |
| AASSaminoadipate-semialdehyde synthase | Sometimes (5–29%) | In 2 conditions |
| ACTA1actin alpha 1, skeletal muscle | Sometimes (5–29%) | In 1 condition |
| ACTL6Bactin like 6B | Sometimes (5–29%) | In 1 condition |
| ADA2adenosine deaminase 2 | Sometimes (5–29%) | In 2 conditions |
| ADARadenosine deaminase RNA specific | Sometimes (5–29%) | In 2 conditions |
| AHI1Abelson helper integration site 1 | Sometimes (5–29%) | In 2 conditions |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Sometimes (5–29%) | In 2 conditions |
| ANOS1anosmin 1 | Sometimes (5–29%) | In 1 condition |
| AP2M1adaptor related protein complex 2 subunit mu 1 | Sometimes (5–29%) | In 2 conditions |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Sometimes (5–29%) | In 1 condition |
| APC2APC regulator of Wnt signaling pathway 2 | Sometimes (5–29%) | In 1 condition |
| ARL13BARF like GTPase 13B | Sometimes (5–29%) | In 1 condition |
| ARL3ARF like GTPase 3 | Sometimes (5–29%) | In 1 condition |
| ARMC9armadillo repeat containing 9 | Sometimes (5–29%) | In 1 condition |
| ARXaristaless related homeobox | Sometimes (5–29%) | In 1 condition |
| ASLargininosuccinate lyase | Sometimes (5–29%) | In 1 condition |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Sometimes (5–29%) | In 3 conditions |
| ATP6V1AATPase H+ transporting V1 subunit A | Sometimes (5–29%) | In 1 condition |
| B9D1B9 domain containing 1 | Sometimes (5–29%) | In 1 condition |
| B9D2B9 domain containing 2 | Sometimes (5–29%) | In 1 condition |
| BEAN1brain expressed associated with NEDD4 1 | 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 |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Sometimes (5–29%) | In 1 condition |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Sometimes (5–29%) | In 1 condition |
| CASKcalcium/calmodulin dependent serine protein kinase | Sometimes (5–29%) | In 1 condition |
| CBY1chibby 1, beta catenin antagonist | Sometimes (5–29%) | In 1 condition |
| CC2D2Acoiled-coil and C2 domain containing 2A | Sometimes (5–29%) | In 1 condition |
| CCDC141coiled-coil domain containing 141 | Sometimes (5–29%) | In 1 condition |
| CD28CD28 molecule | Sometimes (5–29%) | In 1 condition |
| CDK19cyclin dependent kinase 19 | Sometimes (5–29%) | In 1 condition |
| CDKL5cyclin dependent kinase like 5 | Sometimes (5–29%) | In 2 conditions |
| CELF2CUGBP Elav-like family member 2 | Sometimes (5–29%) | In 2 conditions |
| CEP104centrosomal protein 104 | Sometimes (5–29%) | In 1 condition |
| CEP120centrosomal protein 120 | Sometimes (5–29%) | In 2 conditions |
| CEP126centrosomal protein 126 | Sometimes (5–29%) | In 1 condition |
| CEP41centrosomal protein 41 | Sometimes (5–29%) | In 2 conditions |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Sometimes (5–29%) | In 2 conditions |
| CHD2chromodomain helicase DNA binding protein 2 | Sometimes (5–29%) | In 1 condition |
| CHD7chromodomain helicase DNA binding protein 7 | Sometimes (5–29%) | In 1 condition |
| CLPBClpB family mitochondrial disaggregase | Sometimes (5–29%) | In 1 condition |
| CLTCclathrin heavy chain | Sometimes (5–29%) | In 1 condition |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Sometimes (5–29%) | In 1 condition |
| COQ8Acoenzyme Q8A | Sometimes (5–29%) | In 2 conditions |
| CPceruloplasmin | Sometimes (5–29%) | In 1 condition |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Sometimes (5–29%) | In 3 conditions |
| CSPP1centrosome and spindle pole associated protein 1 | Sometimes (5–29%) | In 1 condition |
| CTHcystathionine gamma-lyase | Sometimes (5–29%) | In 1 condition |
| CTLA4cytotoxic T-lymphocyte associated protein 4 | Sometimes (5–29%) | In 1 condition |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Sometimes (5–29%) | In 1 condition |
| DALRD3DALR anticodon binding domain containing 3 | Sometimes (5–29%) | In 1 condition |
| DCCDCC netrin 1 receptor | Sometimes (5–29%) | In 1 condition |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Sometimes (5–29%) | In 1 condition |
| DLSTdihydrolipoamide S-succinyltransferase | Sometimes (5–29%) | In 1 condition |
| DMXL2Dmx like 2 | Sometimes (5–29%) | In 1 condition |
| DNM1dynamin 1 | Sometimes (5–29%) | In 1 condition |
| DNMT3ADNA methyltransferase 3 alpha | Sometimes (5–29%) | In 1 condition |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Sometimes (5–29%) | In 2 conditions |
| DUSP6dual specificity phosphatase 6 | Sometimes (5–29%) | In 1 condition |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Sometimes (5–29%) | In 1 condition |
| ELOVL5ELOVL fatty acid elongase 5 | Sometimes (5–29%) | In 2 conditions |
| EMX2empty spiracles homeobox 2 | Sometimes (5–29%) | In 1 condition |
| EPAS1endothelial PAS domain protein 1 | Sometimes (5–29%) | In 1 condition |
| ERCC5ERCC excision repair 5, endonuclease | Sometimes (5–29%) | In 1 condition |
| FAM149B1family with sequence similarity 149 member B1 | Sometimes (5–29%) | In 1 condition |
| FBXO28F-box protein 28 | Sometimes (5–29%) | In 1 condition |
| FEZF1FEZ family zinc finger 1 | Sometimes (5–29%) | In 1 condition |
| FGF12fibroblast growth factor 12 | Sometimes (5–29%) | In 1 condition |
| FGF17fibroblast growth factor 17 | Sometimes (5–29%) | In 1 condition |
| FGF8fibroblast growth factor 8 | Sometimes (5–29%) | In 1 condition |
| FGFR1fibroblast growth factor receptor 1 | Sometimes (5–29%) | In 1 condition |
| FHfumarate hydratase | Sometimes (5–29%) | In 1 condition |
| FLRT3fibronectin leucine rich transmembrane protein 3 | Sometimes (5–29%) | In 1 condition |
| FOXG1forkhead box G1 | Sometimes (5–29%) | In 1 condition |
| FTLferritin light chain | Sometimes (5–29%) | In 1 condition |
| FZR1fizzy and cell division cycle 20 related 1 | Sometimes (5–29%) | In 1 condition |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Sometimes (5–29%) | In 2 conditions |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Sometimes (5–29%) | In 1 condition |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Sometimes (5–29%) | In 1 condition |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Sometimes (5–29%) | In 1 condition |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Sometimes (5–29%) | In 2 conditions |
| GALCgalactosylceramidase | Sometimes (5–29%) | In 1 condition |
| GAMTguanidinoacetate N-methyltransferase | Sometimes (5–29%) | In 1 condition |
| GCDHglutaryl-CoA dehydrogenase | Sometimes (5–29%) | In 1 condition |
| GGT1gamma-glutamyltransferase 1 | Sometimes (5–29%) | In 2 conditions |
| GJB1gap junction protein beta 1 | Sometimes (5–29%) | In 2 conditions |
| GNAO1G protein subunit alpha o1 | Sometimes (5–29%) | In 1 condition |
| GPT2glutamic--pyruvic transaminase 2 | Sometimes (5–29%) | In 1 condition |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Sometimes (5–29%) | In 1 condition |
| GRM7glutamate metabotropic receptor 7 | Sometimes (5–29%) | In 1 condition |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Sometimes (5–29%) | In 2 conditions |
| HESX1HESX homeobox 1 | Sometimes (5–29%) | In 1 condition |
| HIVEP2HIVEP zinc finger 2 | Sometimes (5–29%) | In 1 condition |
| HPD4-hydroxyphenylpyruvate dioxygenase | Sometimes (5–29%) | In 1 condition |
| HS6ST1heparan sulfate 6-O-sulfotransferase 1 | Sometimes (5–29%) | In 1 condition |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Sometimes (5–29%) | In 1 condition |
| IFIH1interferon induced with helicase C domain 1 | Sometimes (5–29%) | In 1 condition |
| IFT74intraflagellar transport 74 | Sometimes (5–29%) | In 1 condition |
| IL17RDinterleukin 17 receptor D | Sometimes (5–29%) | In 1 condition |
| INPP5Einositol polyphosphate-5-phosphatase E | Sometimes (5–29%) | In 3 conditions |
| IVDisovaleryl-CoA dehydrogenase | Sometimes (5–29%) | In 1 condition |
| JAG1jagged canonical Notch ligand 1 | Sometimes (5–29%) | In 1 condition |
| KATNIPkatanin interacting protein | Sometimes (5–29%) | In 1 condition |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Sometimes (5–29%) | In 2 conditions |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Sometimes (5–29%) | In 2 conditions |
| 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 |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Sometimes (5–29%) | In 1 condition |
| KIAA0586KIAA0586 | Sometimes (5–29%) | In 1 condition |
| KIAA0753KIAA0753 | Sometimes (5–29%) | In 2 conditions |
| KIF1Bkinesin family member 1B | Sometimes (5–29%) | In 1 condition |
| KIF7kinesin family member 7 | Sometimes (5–29%) | In 1 condition |
| KLHL40kelch like family member 40 | Sometimes (5–29%) | In 1 condition |
| KLHL41kelch like family member 41 | Sometimes (5–29%) | In 1 condition |
| KMT2Blysine methyltransferase 2B | Sometimes (5–29%) | In 1 condition |
| LGI1leucine rich glioma inactivated 1 | Sometimes (5–29%) | In 1 condition |
| LMOD3leiomodin 3 | Sometimes (5–29%) | In 1 condition |
| LRP12LDL receptor related protein 12 | Sometimes (5–29%) | In 1 condition |
| LSM11LSM11, U7 small nuclear RNA associated | Sometimes (5–29%) | In 1 condition |
| LYSTlysosomal trafficking regulator | Sometimes (5–29%) | In 2 conditions |
| MAXMYC associated transcriptional regulator X | Sometimes (5–29%) | In 1 condition |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Sometimes (5–29%) | In 1 condition |
| MDH2malate dehydrogenase 2 | Sometimes (5–29%) | In 1 condition |
| MED11mediator complex subunit 11 | Sometimes (5–29%) | In 1 condition |
| MFN2mitofusin 2 | Sometimes (5–29%) | In 1 condition |
| MKS1MKS transition zone complex subunit 1 | Sometimes (5–29%) | In 2 conditions |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Sometimes (5–29%) | In 1 condition |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Sometimes (5–29%) | In 1 condition |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Sometimes (5–29%) | In 1 condition |
| MTFMTmitochondrial methionyl-tRNA formyltransferase | Sometimes (5–29%) | In 1 condition |
| MYH14myosin heavy chain 14 | Sometimes (5–29%) | In 2 conditions |
| NARS1asparaginyl-tRNA synthetase 1 | Sometimes (5–29%) | In 1 condition |
| NDNFneuron derived neurotrophic factor | Sometimes (5–29%) | In 1 condition |
| NEBnebulin | Sometimes (5–29%) | In 1 condition |
| NECAP1NECAP endocytosis associated 1 | Sometimes (5–29%) | In 1 condition |
| NEFLneurofilament light chain | Sometimes (5–29%) | In 1 condition |
| NEMFnuclear export mediator factor | Sometimes (5–29%) | In 1 condition |
| NEUROD2neuronal differentiation 2 | Sometimes (5–29%) | In 1 condition |
| NEXMIFneurite extension and migration factor | Sometimes (5–29%) | In 1 condition |
| NF1neurofibromin 1 | Sometimes (5–29%) | In 1 condition |
| NFE2L2NFE2 like bZIP transcription factor 2 | Sometimes (5–29%) | In 1 condition |
| NIPA1NIPA magnesium transporter 1 | Sometimes (5–29%) | In 1 condition |
| NOTCH2NLCnotch 2 N-terminal like C | Sometimes (5–29%) | In 2 conditions |
| NPHP1nephrocystin 1 | Sometimes (5–29%) | In 1 condition |
| NSD1nuclear receptor binding SET domain protein 1 | Sometimes (5–29%) | In 1 condition |
| NTNG1netrin G1 | Sometimes (5–29%) | In 1 condition |
| NTNG2netrin G2 | Sometimes (5–29%) | In 1 condition |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Sometimes (5–29%) | In 1 condition |
| NUTM2B-AS1NUTM2B antisense RNA 1 | Sometimes (5–29%) | In 1 condition |
| OCA2OCA2 melanosomal transmembrane protein | Sometimes (5–29%) | In 1 condition |
| OFD1OFD1 centriole and centriolar satellite protein | Sometimes (5–29%) | In 3 conditions |
| OPA1OPA1 mitochondrial dynamin like GTPase | Sometimes (5–29%) | In 1 condition |
| PACS2phosphofurin acidic cluster sorting protein 2 | Sometimes (5–29%) | In 1 condition |
| PANK2pantothenate kinase 2 | Sometimes (5–29%) | In 2 conditions |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Sometimes (5–29%) | In 1 condition |
| PCBD1pterin-4 alpha-carbinolamine dehydratase 1 | Sometimes (5–29%) | In 2 conditions |
| PDE10Aphosphodiesterase 10A | Sometimes (5–29%) | In 2 conditions |
| PDE6Dphosphodiesterase 6D | Sometimes (5–29%) | In 2 conditions |
| PIBF1progesterone immunomodulatory binding factor 1 | Sometimes (5–29%) | In 1 condition |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Sometimes (5–29%) | In 1 condition |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Sometimes (5–29%) | In 1 condition |
| PITRM1pitrilysin metallopeptidase 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 |
| POLG2DNA polymerase gamma 2, accessory subunit | Sometimes (5–29%) | In 1 condition |
| PPFIA3PPFI scaffold protein A3 | Sometimes (5–29%) | In 1 condition |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Sometimes (5–29%) | In 1 condition |
| PRKAR1Bprotein kinase cAMP-dependent type I regulatory subunit beta | Sometimes (5–29%) | In 1 condition |
| PRKCGprotein kinase C gamma | Sometimes (5–29%) | In 1 condition |
| PROK2prokineticin 2 | Sometimes (5–29%) | In 1 condition |
| PROKR2prokineticin receptor 2 | Sometimes (5–29%) | In 1 condition |
| PRORPprotein only RNase P catalytic subunit | Sometimes (5–29%) | In 1 condition |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Sometimes (5–29%) | In 1 condition |
| PSAPprosaposin | Sometimes (5–29%) | In 1 condition |
| RETret proto-oncogene | Sometimes (5–29%) | In 2 conditions |
| RHOBTB2Rho related BTB domain containing 2 | Sometimes (5–29%) | In 2 conditions |
| RILPL1Rab interacting lysosomal protein like 1 | Sometimes (5–29%) | In 1 condition |
| RNASEH2Aribonuclease H2 subunit A | Sometimes (5–29%) | In 1 condition |
| RNASEH2Bribonuclease H2 subunit B | Sometimes (5–29%) | In 1 condition |
| RNASEH2Cribonuclease H2 subunit C | Sometimes (5–29%) | In 1 condition |
| RNU7-1RNA, U7 small nuclear 1 | Sometimes (5–29%) | In 1 condition |
| RPGRIP1LRPGRIP1 like | Sometimes (5–29%) | In 2 conditions |
| RPL10ribosomal protein L10 | Sometimes (5–29%) | In 1 condition |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Sometimes (5–29%) | In 2 conditions |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Sometimes (5–29%) | In 1 condition |
| SATB1SATB homeobox 1 | Sometimes (5–29%) | In 1 condition |
| SBF2SET binding factor 2 | Sometimes (5–29%) | In 1 condition |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Sometimes (5–29%) | In 3 conditions |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Sometimes (5–29%) | In 2 conditions |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Sometimes (5–29%) | In 3 conditions |
| 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 |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Sometimes (5–29%) | In 1 condition |
| SDHAF2succinate dehydrogenase complex assembly factor 2 | Sometimes (5–29%) | In 1 condition |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Sometimes (5–29%) | In 2 conditions |
| SDHCsuccinate dehydrogenase complex subunit C | Sometimes (5–29%) | In 1 condition |
| SDHDsuccinate dehydrogenase complex subunit D | Sometimes (5–29%) | In 2 conditions |
| SEMA3Asemaphorin 3A | Sometimes (5–29%) | In 1 condition |
| SIK1salt inducible kinase 1 | Sometimes (5–29%) | In 1 condition |
| SLC13A5solute carrier family 13 member 5 | Sometimes (5–29%) | In 1 condition |
| SLC1A2solute carrier family 1 member 2 | Sometimes (5–29%) | In 1 condition |
| SLC1A3solute carrier family 1 member 3 | Sometimes (5–29%) | In 1 condition |
| SLC25A11solute carrier family 25 member 11 | Sometimes (5–29%) | In 1 condition |
| SLC25A22solute carrier family 25 member 22 | Sometimes (5–29%) | In 1 condition |
| SLC25A4solute carrier family 25 member 4 | Sometimes (5–29%) | In 1 condition |
| SLC2A1solute carrier family 2 member 1 | Sometimes (5–29%) | In 3 conditions |
| SLC32A1solute carrier family 32 member 1 | Sometimes (5–29%) | In 2 conditions |
| SLC38A3solute carrier family 38 member 3 | Sometimes (5–29%) | In 1 condition |
| SLC5A7solute carrier family 5 member 7 | Sometimes (5–29%) | In 1 condition |
| SLC6A1solute carrier family 6 member 1 | Sometimes (5–29%) | In 2 conditions |
| SMC1Astructural maintenance of chromosomes 1A | Sometimes (5–29%) | In 1 condition |
| SNORD118small nucleolar RNA, C/D box 118 | Sometimes (5–29%) | In 2 conditions |
| SOX10SRY-box transcription factor 10 | Sometimes (5–29%) | In 2 conditions |
| SPENspen family transcriptional repressor | Sometimes (5–29%) | In 1 condition |
| SPRY4sprouty RTK signaling antagonist 4 | Sometimes (5–29%) | In 1 condition |
| SQSTM1sequestosome 1 | Sometimes (5–29%) | In 1 condition |
| STUB1STIP1 homology and U-box containing protein 1 | Sometimes (5–29%) | In 2 conditions |
| STXBP1syntaxin binding protein 1 | Sometimes (5–29%) | In 2 conditions |
| SUFUSUFU negative regulator of hedgehog signaling | Sometimes (5–29%) | In 1 condition |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Sometimes (5–29%) | In 3 conditions |
| SZT2SZT2 subunit of KICSTOR complex | Sometimes (5–29%) | In 1 condition |
| TACR3tachykinin receptor 3 | Sometimes (5–29%) | In 1 condition |
| TAF1TATA-box binding protein associated factor 1 | Sometimes (5–29%) | In 3 conditions |
| TATtyrosine aminotransferase | Sometimes (5–29%) | In 1 condition |
| TCTN1tectonic family member 1 | Sometimes (5–29%) | In 1 condition |
| TCTN2tectonic family member 2 | Sometimes (5–29%) | In 1 condition |
| TCTN3tectonic family member 3 | Sometimes (5–29%) | In 2 conditions |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Sometimes (5–29%) | In 2 conditions |
| TMEM127transmembrane protein 127 | Sometimes (5–29%) | In 1 condition |
| TMEM216transmembrane protein 216 | Sometimes (5–29%) | In 1 condition |
| TMEM218transmembrane protein 218 | Sometimes (5–29%) | In 1 condition |
| TMEM222transmembrane protein 222 | Sometimes (5–29%) | In 1 condition |
| TMEM231transmembrane protein 231 | Sometimes (5–29%) | In 1 condition |
| TMEM237transmembrane protein 237 | Sometimes (5–29%) | In 2 conditions |
| TMEM67transmembrane protein 67 | Sometimes (5–29%) | In 2 conditions |
| TNFRSF1BTNF receptor superfamily member 1B | Sometimes (5–29%) | In 1 condition |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Sometimes (5–29%) | In 1 condition |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Sometimes (5–29%) | In 1 condition |
| TRAK1trafficking kinesin protein 1 | Sometimes (5–29%) | In 1 condition |
| TREX1three prime repair exonuclease 1 | Sometimes (5–29%) | In 1 condition |
| TRIM8tripartite motif containing 8 | Sometimes (5–29%) | In 1 condition |
| TRIOtrio Rho guanine nucleotide exchange factor | Sometimes (5–29%) | In 2 conditions |
| TTPAalpha tocopherol transfer protein | Sometimes (5–29%) | In 1 condition |
| TWNKtwinkle mtDNA helicase | Sometimes (5–29%) | In 1 condition |
| UBA5ubiquitin like modifier activating enzyme 5 | Sometimes (5–29%) | In 1 condition |
| UBE3Aubiquitin protein ligase E3A | Sometimes (5–29%) | In 1 condition |
| UFSP2UFM1 specific peptidase 2 | Sometimes (5–29%) | In 1 condition |
| UGT1A1UDP glucuronosyltransferase family 1 member A1 | Sometimes (5–29%) | In 1 condition |
| VAMP1vesicle associated membrane protein 1 | Sometimes (5–29%) | In 1 condition |
| VAPBVAMP associated protein B and C | Sometimes (5–29%) | In 2 conditions |
| VCPvalosin containing protein | Sometimes (5–29%) | In 1 condition |
| VHLvon Hippel-Lindau tumor suppressor | Sometimes (5–29%) | In 2 conditions |
| WDR11WD repeat domain 11 | Sometimes (5–29%) | In 1 condition |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Sometimes (5–29%) | In 1 condition |
| ABCB11ATP binding cassette subfamily B member 11 | Rarely (1–4%) | In 1 condition |
| ABCB4ATP binding cassette subfamily B member 4 | Rarely (1–4%) | In 1 condition |
| ADGRV1adhesion G protein-coupled receptor V1 | Rarely (1–4%) | In 1 condition |
| ATP8B1ATPase phospholipid transporting 8B1 | Rarely (1–4%) | In 1 condition |
| CPA6carboxypeptidase A6 | Rarely (1–4%) | In 1 condition |
| DDCdopa decarboxylase | Rarely (1–4%) | In 1 condition |
| FGF13fibroblast growth factor 13 | Rarely (1–4%) | In 1 condition |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Rarely (1–4%) | In 1 condition |
| GJA5gap junction protein alpha 5 | Rarely (1–4%) | In 1 condition |
| GJA8gap junction protein alpha 8 | Rarely (1–4%) | In 1 condition |
| HMBShydroxymethylbilane synthase | Rarely (1–4%) | In 1 condition |
| NR1H4nuclear receptor subfamily 1 group H member 4 | Rarely (1–4%) | In 1 condition |
| PRRT2proline rich transmembrane protein 2 | Rarely (1–4%) | In 1 condition |
| SCN9Asodium voltage-gated channel alpha subunit 9 | Rarely (1–4%) | In 1 condition |
| STX1Bsyntaxin 1B | Rarely (1–4%) | In 1 condition |
| ADAMTS13ADAM metallopeptidase with thrombospondin type 1 motif 13 | Not recorded | In 1 condition |
| ADH1Calcohol dehydrogenase 1C (class I), gamma polypeptide | Not recorded | In 1 condition |
| ARandrogen receptor | Not recorded | In 1 condition |
| ATXN2ataxin 2 | Not recorded | In 1 condition |
| ATXN3ataxin 3 | Not recorded | In 1 condition |
| ATXN8ataxin 8 | Not recorded | In 1 condition |
| ATXN8OSATXN8 opposite strand lncRNA | Not recorded | In 2 conditions |
| BRAT1BRCA1 associated ATM activator 1 | Not recorded | In 1 condition |
| C19orf12chromosome 19 open reading frame 12 | Not recorded | In 1 condition |
| CA8carbonic anhydrase 8 (inactive) | Not recorded | In 1 condition |
| CTC1CST telomere replication complex component 1 | Not recorded | In 1 condition |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Not recorded | In 1 condition |
| GBA1glucosylceramidase beta 1 | Not recorded | In 1 condition |
| ITM2Bintegral membrane protein 2B | Not recorded | In 1 condition |
| KCNC1potassium voltage-gated channel subfamily C member 1 | Not recorded | In 1 condition |
| LRPPRCleucine rich pentatricopeptide repeat containing | Not recorded | In 1 condition |
| MMAAmetabolism of cobalamin associated A | Not recorded | In 1 condition |
| MMACHCmetabolism of cobalamin associated C | Not recorded | In 1 condition |
| MMEmembrane metalloendopeptidase | Not recorded | In 1 condition |
| MT-TTmitochondrially encoded tRNA-Thr (ACN) | Not recorded | In 1 condition |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Not recorded | In 1 condition |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Not recorded | In 1 condition |
| OXR1oxidation resistance 1 | Not recorded | In 1 condition |
| PEX2peroxisomal biogenesis factor 2 | Not recorded | In 1 condition |
| PNPpurine nucleoside phosphorylase | Not recorded | In 1 condition |
| PRDX1peroxiredoxin 1 | Not recorded | In 1 condition |
| PRICKLE1prickle planar cell polarity protein 1 | Not recorded | In 1 condition |
| PTS6-pyruvoyltetrahydropterin synthase | Not recorded | In 1 condition |
| QDPRquinoid dihydropteridine reductase | Not recorded | In 1 condition |
| RLIMring finger protein, LIM domain interacting | Not recorded | In 1 condition |
| SAMD12sterile alpha motif domain containing 12 | Not recorded | In 1 condition |
| SGCEsarcoglycan epsilon | Not recorded | In 1 condition |
| SLC12A6solute carrier family 12 member 6 | Not recorded | In 1 condition |
| SLC25A46solute carrier family 25 member 46 | Not recorded | In 1 condition |
| SLC30A10solute carrier family 30 member 10 | Not recorded | In 1 condition |
| SLC39A4solute carrier family 39 member 4 | Not recorded | In 1 condition |
| SNCAIPsynuclein alpha interacting protein | Not recorded | In 1 condition |
| STARD7StAR related lipid transfer domain containing 7 | Not recorded | In 1 condition |
| TBPTATA-box binding protein | Not recorded | In 1 condition |
| THtyrosine hydroxylase | Not recorded | In 1 condition |
| TMEM70transmembrane protein 70 | Not recorded | In 1 condition |
| TNPO2transportin 2 | Not recorded | In 1 condition |
| TPI1triosephosphate isomerase 1 | Not recorded | In 1 condition |
| TRAPPC11trafficking protein particle complex subunit 11 | Not recorded | In 1 condition |
| TSFMTs translation elongation factor, mitochondrial | Not recorded | In 1 condition |
| TTC19tetratricopeptide repeat domain 19 | Not recorded | In 1 condition |
| TTRtransthyretin | Not recorded | In 1 condition |
| VPS13Dvacuolar protein sorting 13 homolog D | Not recorded | In 1 condition |
| VPS35VPS35 retromer complex component | Not recorded | In 1 condition |
| WDR81WD repeat domain 81 | 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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