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Trait
Motor delay
A type of Developmental delay characterized by a delay in acquiring motor skills.
Summary
- Also called
- Delay in development of motor milestones, Delay in motor development, Delayed development of motor milestones, Delayed early motor milestones, Delayed motor development, Delayed motor milestones, Locomotor delay, Motor developmental delay, Motor developmental milestones not achieved, Slow development of motor milestones
- Body system
- Abnormality of the nervous system
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page$trait$nameMotor delayHP:0001270
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Get my Genome Test768 genes linked to Motor delay
Changes in these genes cause rare conditions in which Motor delay 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 |
|---|---|---|
| ABCC8ATP binding cassette subfamily C member 8 | Always | In 2 conditions |
| ACADSBacyl-CoA dehydrogenase short/branched chain | Always | In 1 condition |
| ACBD5acyl-CoA binding domain containing 5 | Always | In 1 condition |
| ACTBactin beta | Always | In 1 condition |
| ADAadenosine deaminase | Always | In 1 condition |
| ADARB1adenosine deaminase RNA specific B1 | Always | In 1 condition |
| AGO2argonaute RISC catalytic component 2 | Always | In 1 condition |
| AGTPBP1ATP/GTP binding carboxypeptidase 1 | Always | In 2 conditions |
| AHDC1AT-hook DNA binding motif containing 1 | Always | In 2 conditions |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Always | In 3 conditions |
| AMFRautocrine motility factor receptor | Always | In 1 condition |
| AP3B1adaptor related protein complex 3 subunit beta 1 | Always | In 1 condition |
| ASPMassembly factor for spindle microtubules | Always | In 1 condition |
| ATP2A1ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 | Always | In 1 condition |
| ATP2B3ATPase plasma membrane Ca2+ transporting 3 | Always | In 2 conditions |
| ATP6V1AATPase H+ transporting V1 subunit A | Always | In 2 conditions |
| ATP9AATPase phospholipid transporting 9A | Always | In 1 condition |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Always | In 1 condition |
| BAIAP2BAR/IMD domain containing adaptor protein 2 | Always | In 1 condition |
| BCKDKbranched chain keto acid dehydrogenase kinase | Always | In 1 condition |
| BCORBCL6 corepressor | Always | In 2 conditions |
| CACNA1Scalcium voltage-gated channel subunit alpha1 S | Always | In 1 condition |
| CDK13cyclin dependent kinase 13 | Always | In 1 condition |
| CEP295centrosomal protein 295 | Always | In 1 condition |
| CFL2cofilin 2 | Always | In 1 condition |
| CHAMP1chromosome alignment maintaining phosphoprotein 1 | Always | In 1 condition |
| CHD7chromodomain helicase DNA binding protein 7 | Always | In 1 condition |
| CHRNDcholinergic receptor nicotinic delta subunit | Always | In 1 condition |
| CHST3carbohydrate sulfotransferase 3 | Always | In 2 conditions |
| CICcapicua transcriptional repressor | Always | In 1 condition |
| CLCN6Cl-/H+ antiporter 6 | Always | In 1 condition |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Always | In 1 condition |
| COG5component of oligomeric golgi complex 5 | Always | In 2 conditions |
| COL12A1collagen type XII alpha 1 chain | Always | In 3 conditions |
| COL6A1collagen type VI alpha 1 chain | Always | In 2 conditions |
| COL6A2collagen type VI alpha 2 chain | Always | In 1 condition |
| CPEcarboxypeptidase E | Always | In 1 condition |
| CPT1Acarnitine palmitoyltransferase 1A | Always | In 1 condition |
| CRATcarnitine O-acetyltransferase | Always | In 1 condition |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Always | In 1 condition |
Show 728 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| CTBP1C-terminal binding protein 1 | Always | In 1 condition |
| CUL3cullin 3 | Always | In 1 condition |
| CUL4Bcullin 4B | Always | In 1 condition |
| DAGLAdiacylglycerol lipase alpha | Always | In 1 condition |
| DEAF1DEAF1 transcription factor | Always | In 2 conditions |
| DHRS3dehydrogenase/reductase 3 | Always | In 1 condition |
| DHX30DExH-box helicase 30 | Always | In 1 condition |
| DLG3discs large MAGUK scaffold protein 3 | Always | In 1 condition |
| DMXL2Dmx like 2 | Always | In 1 condition |
| DNASE2deoxyribonuclease 2, lysosomal | Always | In 1 condition |
| DPM3dolichyl-phosphate mannosyltransferase subunit 3, regulatory | Always | In 1 condition |
| DSTdystonin | Always | In 2 conditions |
| DYNC1I2dynein cytoplasmic 1 intermediate chain 2 | Always | In 1 condition |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Always | In 1 condition |
| EGR2early growth response 2 | Always | In 2 conditions |
| ELOVL1ELOVL fatty acid elongase 1 | Always | In 1 condition |
| ERI1exoribonuclease 1 | Always | In 1 condition |
| FBN1fibrillin 1 | Always | In 2 conditions |
| FDXRferredoxin reductase | Always | In 1 condition |
| FGD4FYVE, RhoGEF and PH domain containing 4 | Always | In 1 condition |
| FITM2fat storage inducing transmembrane protein 2 | Always | In 1 condition |
| FKBP14FKBP prolyl isomerase 14 | Always | In 2 conditions |
| FKTNfukutin | Always | In 3 conditions |
| FOXP1forkhead box P1 | Always | In 2 conditions |
| FRMD5FERM domain containing 5 | Always | In 1 condition |
| FXR1FMR1 autosomal homolog 1 | Always | In 2 conditions |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Always | In 1 condition |
| GALNSgalactosamine (N-acetyl)-6-sulfatase | Always | In 1 condition |
| GANgigaxonin | Always | In 1 condition |
| GARS1glycyl-tRNA synthetase 1 | Always | In 1 condition |
| GEMIN5gem nuclear organelle associated protein 5 | Always | In 1 condition |
| GFPT1glutamine--fructose-6-phosphate transaminase 1 | Always | In 3 conditions |
| GGPS1geranylgeranyl diphosphate synthase 1 | Always | In 1 condition |
| GJC2gap junction protein gamma 2 | Always | In 1 condition |
| GLRBglycine receptor beta | Always | In 1 condition |
| GTPBP1GTP binding protein 1 | Always | In 1 condition |
| GTPBP2GTP binding protein 2 | Always | In 1 condition |
| GUSBglucuronidase beta | Always | In 1 condition |
| HACD13-hydroxyacyl-CoA dehydratase 1 | Always | In 2 conditions |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Always | In 1 condition |
| HIBCH3-hydroxyisobutyryl-CoA hydrolase | Always | In 2 conditions |
| HID1HID1 domain containing | Always | In 1 condition |
| HNRNPA2B1heterogeneous nuclear ribonucleoprotein A2/B1 | Always | In 1 condition |
| HPDL4-hydroxyphenylpyruvate dioxygenase like | Always | In 1 condition |
| HS2ST1heparan sulfate 2-O-sulfotransferase 1 | Always | In 1 condition |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Always | In 2 conditions |
| IFT52intraflagellar transport 52 | Always | In 1 condition |
| IFT74intraflagellar transport 74 | Always | In 1 condition |
| IGF1insulin like growth factor 1 | Always | In 2 conditions |
| IL1RNinterleukin 1 receptor antagonist | Always | In 1 condition |
| IL37interleukin 37 | Always | In 1 condition |
| INTS11integrator complex subunit 11 | Always | In 1 condition |
| IPO8importin 8 | Always | In 1 condition |
| IQSEC1IQ motif and Sec7 domain ArfGEF 1 | Always | In 1 condition |
| ITCHitchy E3 ubiquitin protein ligase | Always | In 1 condition |
| ITGA7integrin subunit alpha 7 | Always | In 2 conditions |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Always | In 3 conditions |
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Always | In 1 condition |
| JKAMPJNK1/MAPK8 associated membrane protein | Always | In 1 condition |
| KARS1lysyl-tRNA synthetase 1 | Always | In 1 condition |
| KATNB1katanin regulatory subunit B1 | Always | In 1 condition |
| KDM5Clysine demethylase 5C | Always | In 1 condition |
| KPNA3karyopherin subunit alpha 3 | Always | In 1 condition |
| LAMA2laminin subunit alpha 2 | Always | In 3 conditions |
| LAMB1laminin subunit beta 1 | Always | In 1 condition |
| LGI1leucine rich glioma inactivated 1 | Always | In 1 condition |
| LIASlipoic acid synthetase | Always | In 1 condition |
| LIG1DNA ligase 1 | Always | In 1 condition |
| LINGO1leucine rich repeat and Ig domain containing 1 | Always | In 1 condition |
| MADDMAP kinase activating death domain | Always | In 2 conditions |
| MAN1B1mannosidase alpha class 1B member 1 | Always | In 1 condition |
| MAN2C1mannosidase alpha class 2C member 1 | Always | In 1 condition |
| MARS1methionyl-tRNA synthetase 1 | Always | In 2 conditions |
| MAU2MAU2 sister chromatid cohesion factor | Always | In 1 condition |
| MBD5methyl-CpG binding domain protein 5 | Always | In 1 condition |
| MCEEmethylmalonyl-CoA epimerase | Always | In 1 condition |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Always | In 1 condition |
| MEF2Cmyocyte enhancer factor 2C | Always | In 1 condition |
| MFFmitochondrial fission factor | Always | In 2 conditions |
| MICU1mitochondrial calcium uptake 1 | Always | In 1 condition |
| MLIPmuscular LMNA interacting protein | Always | In 1 condition |
| MPZmyelin protein zero | Always | In 4 conditions |
| MRPS25mitochondrial ribosomal protein S25 | Always | In 1 condition |
| MSL2MSL complex subunit 2 | Always | In 1 condition |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Always | In 1 condition |
| MYH3myosin heavy chain 3 | Always | In 1 condition |
| MYMKmyomaker, myoblast fusion factor | Always | In 1 condition |
| MYOD1myogenic differentiation 1 | Always | In 1 condition |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Always | In 1 condition |
| NALCNsodium leak channel, non-selective | Always | In 2 conditions |
| NDRG1N-myc downstream regulated 1 | Always | In 2 conditions |
| NDUFA12NADH:ubiquinone oxidoreductase subunit A12 | Always | In 1 condition |
| NIPBLNIPBL cohesin loading factor | Always | In 1 condition |
| NKX2-1NK2 homeobox 1 | Always | In 3 conditions |
| NKX6-2NK6 homeobox 2 | Always | In 1 condition |
| NOVA2NOVA alternative splicing regulator 2 | Always | In 1 condition |
| NRAPnebulin related anchoring protein | Always | In 1 condition |
| NT5C25'-nucleotidase, cytosolic II | Always | In 2 conditions |
| NTNG2netrin G2 | Always | In 1 condition |
| NUDT2nudix hydrolase 2 | Always | In 1 condition |
| NUP54nucleoporin 54 | Always | In 1 condition |
| OFD1OFD1 centriole and centriolar satellite protein | Always | In 1 condition |
| PAK1p21 (RAC1) activated kinase 1 | Always | In 1 condition |
| PET117PET117 cytochrome c oxidase chaperone | Always | In 1 condition |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Always | In 1 condition |
| PGAP2post-GPI attachment to proteins 2 | Always | In 1 condition |
| PI4K2Aphosphatidylinositol 4-kinase type 2 alpha | Always | In 1 condition |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Always | In 1 condition |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Always | In 1 condition |
| PMP22peripheral myelin protein 22 | Always | In 2 conditions |
| POLR1ARNA polymerase I subunit A | Always | In 1 condition |
| POLR3GLRNA polymerase III subunit GL | Always | In 1 condition |
| POMKprotein O-mannose kinase | Always | In 1 condition |
| PPIL1peptidylprolyl isomerase like 1 | Always | In 1 condition |
| PRDM13PR/SET domain 13 | Always | In 2 conditions |
| PRR12proline rich 12 | Always | In 1 condition |
| PRXperiaxin | Always | In 2 conditions |
| PSMB1proteasome 20S subunit beta 1 | Always | In 1 condition |
| PSMG2proteasome assembly chaperone 2 | Always | In 1 condition |
| PTBP1polypyrimidine tract binding protein 1 | Always | In 1 condition |
| PTH1Rparathyroid hormone 1 receptor | Always | In 1 condition |
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Always | In 1 condition |
| PTRH2peptidyl-tRNA hydrolase 2 | Always | In 2 conditions |
| PYCR1pyrroline-5-carboxylate reductase 1 | Always | In 1 condition |
| RALGAPA1Ral GTPase activating protein catalytic subunit alpha 1 | Always | In 1 condition |
| RAP1GDS1Rap1 GTPase-GDP dissociation stimulator 1 | Always | In 1 condition |
| RBSNrabenosyn, RAB effector | Always | In 1 condition |
| RNU4-2RNA, U4 small nuclear 2 | Always | In 1 condition |
| RSPRY1ring finger and SPRY domain containing 1 | Always | In 2 conditions |
| RSRC1arginine and serine rich coiled-coil 1 | Always | In 1 condition |
| RTN2reticulon 2 | Always | In 1 condition |
| RUBCNrubicon autophagy regulator | Always | In 1 condition |
| RYR1ryanodine receptor 1 | Always | In 8 conditions |
| SCN11Asodium voltage-gated channel alpha subunit 11 | Always | In 1 condition |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Always | In 3 conditions |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Always | In 1 condition |
| SELENOIselenoprotein I | Always | In 1 condition |
| SERPINF1serpin family F member 1 | Always | In 1 condition |
| SLC12A6solute carrier family 12 member 6 | Always | In 2 conditions |
| SLC25A42solute carrier family 25 member 42 | Always | In 1 condition |
| SLC32A1solute carrier family 32 member 1 | Always | In 1 condition |
| SLC5A7solute carrier family 5 member 7 | Always | In 1 condition |
| SLC9A1solute carrier family 9 member A1 | Always | In 1 condition |
| SOX5SRY-box transcription factor 5 | Always | In 1 condition |
| SP7Sp7 transcription factor | Always | In 1 condition |
| SPARTspartin | Always | In 2 conditions |
| SPEGstriated muscle enriched protein kinase | Always | In 2 conditions |
| SPOPspeckle type BTB/POZ protein | Always | In 2 conditions |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Always | In 2 conditions |
| SPTBN2spectrin beta, non-erythrocytic 2 | Always | In 1 condition |
| SPTBN4spectrin beta, non-erythrocytic 4 | Always | In 1 condition |
| SRD5A3steroid 5 alpha-reductase 3 | Always | In 2 conditions |
| STAC3SH3 and cysteine rich domain 3 | Always | In 2 conditions |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Always | In 1 condition |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Always | In 1 condition |
| SUPT7LSPT7 like, STAGA complex subunit gamma | Always | In 1 condition |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Always | In 1 condition |
| TAFAZZINtafazzin, phospholipid-lysophospholipid transacylase | Always | In 1 condition |
| TANGO2transport and golgi organization 2 homolog | Always | In 1 condition |
| TBK1TANK binding kinase 1 | Always | In 1 condition |
| TCF20transcription factor 20 | Always | In 1 condition |
| THG1LtRNA-histidine guanylyltransferase 1 like | Always | In 1 condition |
| TLK2tousled like kinase 2 | Always | In 1 condition |
| TMEM107transmembrane protein 107 | Always | In 1 condition |
| TMEM147transmembrane protein 147 | Always | In 1 condition |
| TMEM222transmembrane protein 222 | Always | In 1 condition |
| TNRtenascin R | Always | In 1 condition |
| TOR1Atorsin family 1 member A | Always | In 1 condition |
| TPM2tropomyosin 2 | Always | In 4 conditions |
| TRIOtrio Rho guanine nucleotide exchange factor | Always | In 1 condition |
| TRIP4thyroid hormone receptor interactor 4 | Always | In 2 conditions |
| TTNtitin | Always | In 2 conditions |
| TUBA4Atubulin alpha 4a | Always | In 1 condition |
| TUBB2Btubulin beta 2B class IIb | Always | In 1 condition |
| UBA2ubiquitin like modifier activating enzyme 2 | Always | In 1 condition |
| UBAP2Lubiquitin associated protein 2 like | Always | In 1 condition |
| UBE3Aubiquitin protein ligase E3A | Always | In 1 condition |
| UBE3Bubiquitin protein ligase E3B | Always | In 1 condition |
| UBE3Cubiquitin protein ligase E3C | Always | In 1 condition |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Always | In 1 condition |
| UNC13Aunc-13 homolog A | Always | In 2 conditions |
| UQCRFS1ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 | Always | In 1 condition |
| VAMP1vesicle associated membrane protein 1 | Always | In 1 condition |
| VARS1valyl-tRNA synthetase 1 | Always | In 1 condition |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Always | In 1 condition |
| VPS4Avacuolar protein sorting 4 homolog A | Always | In 1 condition |
| VRK1VRK serine/threonine kinase 1 | Always | In 3 conditions |
| WBP4WW domain binding protein 4 | Always | In 1 condition |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Always | In 1 condition |
| YME1L1YME1 like 1 ATPase | Always | In 1 condition |
| YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | Always | In 1 condition |
| YY1YY1 transcription factor | Always | In 1 condition |
| ZMYND11zinc finger MYND-type containing 11 | Always | In 1 condition |
| ZSCAN10zinc finger and SCAN domain containing 10 | Always | In 1 condition |
| ZSWIM6zinc finger SWIM-type containing 6 | Always | In 1 condition |
| ADGRG1adhesion G protein-coupled receptor G1 | Very often (80–99%) | In 1 condition |
| AGO1argonaute RISC component 1 | Very often (80–99%) | In 1 condition |
| ARPC4actin related protein 2/3 complex subunit 4 | Very often (80–99%) | In 1 condition |
| ASPAaspartoacylase | Very often (80–99%) | In 2 conditions |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Very often (80–99%) | In 2 conditions |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Very often (80–99%) | In 1 condition |
| BCL11BBCL11 transcription factor B | Very often (80–99%) | In 1 condition |
| BPTFbromodomain PHD finger transcription factor | Very often (80–99%) | In 1 condition |
| CHD8chromodomain helicase DNA binding protein 8 | Very often (80–99%) | In 1 condition |
| CILK1ciliogenesis associated kinase 1 | Very often (80–99%) | In 1 condition |
| COG4component of oligomeric golgi complex 4 | Very often (80–99%) | In 1 condition |
| COL1A1collagen type I alpha 1 chain | Very often (80–99%) | In 2 conditions |
| COL1A2collagen type I alpha 2 chain | Very often (80–99%) | In 1 condition |
| CTNNB1catenin beta 1 | Very often (80–99%) | In 2 conditions |
| CYP27B1cytochrome P450 family 27 subfamily B member 1 | Very often (80–99%) | In 2 conditions |
| CYP2R1cytochrome P450 family 2 subfamily R member 1 | Very often (80–99%) | In 1 condition |
| DLK1delta like non-canonical Notch ligand 1 | Very often (80–99%) | In 3 conditions |
| DMDdystrophin | Very often (80–99%) | In 1 condition |
| EBF3EBF transcription factor 3 | Very often (80–99%) | In 1 condition |
| EXOSC3exosome component 3 | Very often (80–99%) | In 1 condition |
| EXOSC8exosome component 8 | Very often (80–99%) | In 1 condition |
| EXOSC9exosome component 9 | Very often (80–99%) | In 1 condition |
| EXTL3exostosin like glycosyltransferase 3 | Very often (80–99%) | In 2 conditions |
| FBXW11F-box and WD repeat domain containing 11 | Very often (80–99%) | In 1 condition |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Very often (80–99%) | In 1 condition |
| HDAC4histone deacetylase 4 | Very often (80–99%) | In 1 condition |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Very often (80–99%) | In 1 condition |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Very often (80–99%) | In 1 condition |
| INPP5Kinositol polyphosphate-5-phosphatase K | Very often (80–99%) | In 1 condition |
| KCNN2potassium calcium-activated channel subfamily N member 2 | Very often (80–99%) | In 1 condition |
| KDM2Blysine demethylase 2B | Very often (80–99%) | In 1 condition |
| KDM3Blysine demethylase 3B | Very often (80–99%) | In 1 condition |
| KDM6Blysine demethylase 6B | Very often (80–99%) | In 1 condition |
| LMBRD2LMBR1 domain containing 2 | Very often (80–99%) | In 1 condition |
| LMX1BLIM homeobox transcription factor 1 beta | Very often (80–99%) | In 1 condition |
| LONP1lon peptidase 1, mitochondrial | Very often (80–99%) | In 1 condition |
| LTBP4latent transforming growth factor beta binding protein 4 | Very often (80–99%) | In 1 condition |
| MAGEL2MAGE family member L2 | Very often (80–99%) | In 2 conditions |
| MED13Lmediator complex subunit 13L | Very often (80–99%) | In 2 conditions |
| MED27mediator complex subunit 27 | Very often (80–99%) | In 1 condition |
| MEG3maternally expressed 3 | Very often (80–99%) | In 3 conditions |
| MKRN3makorin ring finger protein 3 | Very often (80–99%) | In 1 condition |
| MN1MN1 proto-oncogene, transcriptional regulator | Very often (80–99%) | In 1 condition |
| NAA15N-alpha-acetyltransferase 15, NatA auxiliary subunit | Very often (80–99%) | In 1 condition |
| NPAP1nuclear pore associated protein 1 | Very often (80–99%) | In 1 condition |
| PPFIBP1PPFIB scaffold protein 1 | Very often (80–99%) | In 1 condition |
| PWAR1Prader Willi/Angelman region RNA 1 | Very often (80–99%) | In 1 condition |
| PWRN1Prader-Willi region non-protein coding RNA 1 | Very often (80–99%) | In 1 condition |
| QRICH1glutamine rich 1 | Very often (80–99%) | In 1 condition |
| RFX7regulatory factor X7 | Very often (80–99%) | In 1 condition |
| RMP64ribonuclease MRP subunit p64 | Very often (80–99%) | In 1 condition |
| RNU2-2RNA, U2 small nuclear 2 | Very often (80–99%) | In 1 condition |
| RTL1retrotransposon Gag like 1 | Very often (80–99%) | In 3 conditions |
| SATB1SATB homeobox 1 | Very often (80–99%) | In 2 conditions |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Very often (80–99%) | In 1 condition |
| SETBP1SET binding protein 1 | Very often (80–99%) | In 1 condition |
| SETD1ASET domain containing 1A, histone lysine methyltransferase | Very often (80–99%) | In 1 condition |
| SH3PXD2BSH3 and PX domains 2B | Very often (80–99%) | In 1 condition |
| SIAH1siah E3 ubiquitin protein ligase 1 | Very often (80–99%) | In 1 condition |
| SIM1SIM bHLH transcription factor 1 | Very often (80–99%) | In 1 condition |
| SLC25A46solute carrier family 25 member 46 | Very often (80–99%) | In 1 condition |
| SLC6A1solute carrier family 6 member 1 | Very often (80–99%) | In 1 condition |
| SLC6A11solute carrier family 6 member 11 | Very often (80–99%) | In 1 condition |
| SNORD115-1small nucleolar RNA, C/D box 115-1 | Very often (80–99%) | In 1 condition |
| SNORD116-1small nucleolar RNA, C/D box 116-1 | Very often (80–99%) | In 1 condition |
| SNUPNsnurportin 1 | Very often (80–99%) | In 1 condition |
| SPG21SPG21 abhydrolase domain containing, maspardin | Very often (80–99%) | In 1 condition |
| SPTBN1spectrin beta, non-erythrocytic 1 | Very often (80–99%) | In 1 condition |
| SRPK3SRSF protein kinase 3 | Very often (80–99%) | In 1 condition |
| STXBP1syntaxin binding protein 1 | Very often (80–99%) | In 1 condition |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Very often (80–99%) | In 2 conditions |
| SYT1synaptotagmin 1 | Very often (80–99%) | In 1 condition |
| TBCBtubulin folding cofactor B | Very often (80–99%) | In 1 condition |
| TBCKTBC1 domain containing kinase | Very often (80–99%) | In 1 condition |
| TMEM94transmembrane protein 94 | Very often (80–99%) | In 1 condition |
| TRIP12thyroid hormone receptor interactor 12 | Very often (80–99%) | In 1 condition |
| VPS41VPS41 subunit of HOPS complex | Very often (80–99%) | In 1 condition |
| WACWW domain containing adaptor with coiled-coil | Very often (80–99%) | In 2 conditions |
| WDR73WD repeat domain 73 | Very often (80–99%) | In 1 condition |
| WWOXWW domain containing oxidoreductase | Very often (80–99%) | In 1 condition |
| ZBTB24zinc finger and BTB domain containing 24 | Very often (80–99%) | In 1 condition |
| ZBTB7Azinc finger and BTB domain containing 7A | Very often (80–99%) | In 1 condition |
| ZNF592zinc finger protein 592 | Very often (80–99%) | In 1 condition |
| AARS2alanyl-tRNA synthetase 2, mitochondrial | Often (30–79%) | In 1 condition |
| ACTA1actin alpha 1, skeletal muscle | Often (30–79%) | In 6 conditions |
| ADA2adenosine deaminase 2 | Often (30–79%) | In 1 condition |
| ADAMTS2ADAM metallopeptidase with thrombospondin type 1 motif 2 | Often (30–79%) | In 2 conditions |
| ADCY5adenylate cyclase 5 | Often (30–79%) | In 2 conditions |
| AEBP1AE binding protein 1 | Often (30–79%) | In 2 conditions |
| AGKacylglycerol kinase | Often (30–79%) | In 1 condition |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Often (30–79%) | In 2 conditions |
| ALDH5A1aldehyde dehydrogenase 5 family member A1 | Often (30–79%) | In 1 condition |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Often (30–79%) | In 1 condition |
| ALPK3alpha kinase 3 | Often (30–79%) | In 1 condition |
| ANKRD17ankyrin repeat domain 17 | Often (30–79%) | In 1 condition |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Often (30–79%) | In 1 condition |
| ATP5F1AATP synthase F1 subunit alpha | Often (30–79%) | In 1 condition |
| ATP5F1DATP synthase F1 subunit delta | Often (30–79%) | In 1 condition |
| ATP5F1EATP synthase F1 subunit epsilon | Often (30–79%) | In 1 condition |
| ATP5MKATP synthase membrane subunit k | Often (30–79%) | In 1 condition |
| ATP5POATP synthase peripheral stalk subunit OSCP | Often (30–79%) | In 1 condition |
| ATP6AP2ATPase H+ transporting accessory protein 2 | Often (30–79%) | In 2 conditions |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Often (30–79%) | In 1 condition |
| ATRXATRX chromatin remodeler | Often (30–79%) | In 1 condition |
| ATXN7ataxin 7 | Often (30–79%) | In 1 condition |
| ATXN7L3ataxin 7 like 3 | Often (30–79%) | In 1 condition |
| AXIN1axin 1 | Often (30–79%) | In 1 condition |
| B3GALT6beta-1,3-galactosyltransferase 6 | Often (30–79%) | In 2 conditions |
| B4GALT7beta-1,4-galactosyltransferase 7 | Often (30–79%) | In 1 condition |
| BAP1BRCA1 associated deubiquitinase 1 | Often (30–79%) | In 1 condition |
| BICD2BICD cargo adaptor 2 | Often (30–79%) | In 3 conditions |
| BIN1bridging integrator 1 | Often (30–79%) | In 2 conditions |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Often (30–79%) | In 1 condition |
| BSNDbarttin CLCNK type accessory subunit beta | Often (30–79%) | In 2 conditions |
| CACHD1cache domain containing 1 | Often (30–79%) | In 1 condition |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Often (30–79%) | In 1 condition |
| CCDC78coiled-coil domain containing 78 | Often (30–79%) | In 1 condition |
| CDCA7cell division cycle associated 7 | Often (30–79%) | In 1 condition |
| CDH23cadherin related 23 | Often (30–79%) | In 1 condition |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Often (30–79%) | In 1 condition |
| CFAP20cilia and flagella associated protein 20 | Often (30–79%) | In 1 condition |
| CHD5chromodomain helicase DNA binding protein 5 | Often (30–79%) | In 1 condition |
| CLCNKAchloride voltage-gated channel Ka | Often (30–79%) | In 2 conditions |
| CLCNKBchloride voltage-gated channel Kb | Often (30–79%) | In 2 conditions |
| CNTNAP2contactin associated protein 2 | Often (30–79%) | In 1 condition |
| COA8cytochrome c oxidase assembly factor 8 | Often (30–79%) | In 1 condition |
| COG3component of oligomeric golgi complex 3 | Often (30–79%) | In 1 condition |
| COL13A1collagen type XIII alpha 1 chain | Often (30–79%) | In 1 condition |
| COL6A3collagen type VI alpha 3 chain | Often (30–79%) | In 1 condition |
| COQ4coenzyme Q4 | Often (30–79%) | In 1 condition |
| COXFA4cytochrome c oxidase associated subunit FA4 | Often (30–79%) | In 1 condition |
| CPSF3cleavage and polyadenylation specific factor 3 | Often (30–79%) | In 1 condition |
| CREBBPCREB binding lysine acetyltransferase | Often (30–79%) | In 1 condition |
| CRPPACDP-L-ribitol pyrophosphorylase A | Often (30–79%) | In 1 condition |
| CUX1cut like homeobox 1 | Often (30–79%) | In 1 condition |
| DAG1dystroglycan 1 | Often (30–79%) | In 1 condition |
| DARS1aspartyl-tRNA synthetase 1 | Often (30–79%) | In 1 condition |
| DDCdopa decarboxylase | Often (30–79%) | In 1 condition |
| DDR2discoidin domain receptor tyrosine kinase 2 | Often (30–79%) | In 1 condition |
| DLATdihydrolipoamide S-acetyltransferase | Often (30–79%) | In 1 condition |
| DONSONDNA replication fork stabilization factor DONSON | Often (30–79%) | In 1 condition |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Often (30–79%) | In 2 conditions |
| DPF2double PHD fingers 2 | Often (30–79%) | In 1 condition |
| DYMdymeclin | Often (30–79%) | In 1 condition |
| DYNC1H1dynein cytoplasmic 1 heavy chain 1 | Often (30–79%) | In 1 condition |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Often (30–79%) | In 1 condition |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Often (30–79%) | In 1 condition |
| ERFETS2 repressor factor | Often (30–79%) | In 1 condition |
| ESPNespin | Often (30–79%) | In 1 condition |
| FBLN1fibulin 1 | Often (30–79%) | In 1 condition |
| FBLN5fibulin 5 | Often (30–79%) | In 2 conditions |
| FILIP1filamin A interacting protein 1 | Often (30–79%) | In 1 condition |
| FKRPfukutin related protein | Often (30–79%) | In 5 conditions |
| FRA10AC1FRA10A associated CGG repeat 1 | Often (30–79%) | In 1 condition |
| GAAalpha glucosidase | Often (30–79%) | In 1 condition |
| GABBR1gamma-aminobutyric acid type B receptor subunit 1 | Often (30–79%) | In 1 condition |
| GALCgalactosylceramidase | Often (30–79%) | In 1 condition |
| GCKglucokinase | Often (30–79%) | In 1 condition |
| GDAP1ganglioside induced differentiation associated protein 1 | Often (30–79%) | In 4 conditions |
| GHRgrowth hormone receptor | Often (30–79%) | In 1 condition |
| GJB1gap junction protein beta 1 | Often (30–79%) | In 2 conditions |
| GMNNgeminin DNA replication inhibitor | Often (30–79%) | In 1 condition |
| GMPPBGDP-mannose pyrophosphorylase B | Often (30–79%) | In 4 conditions |
| GNB5G protein subunit beta 5 | Often (30–79%) | In 1 condition |
| GPC3glypican 3 | Often (30–79%) | In 1 condition |
| GPRC5BG protein-coupled receptor class C group 5 member B | Often (30–79%) | In 1 condition |
| GPSM2G protein signaling modulator 2 | Often (30–79%) | In 1 condition |
| GRB10growth factor receptor bound protein 10 | Often (30–79%) | In 1 condition |
| GRIA1glutamate ionotropic receptor AMPA type subunit 1 | Often (30–79%) | In 1 condition |
| HELLShelicase, lymphoid specific | Often (30–79%) | In 1 condition |
| HEPACAMhepatic and glial cell adhesion molecule | Often (30–79%) | In 4 conditions |
| HMGA2high mobility group AT-hook 2 | Often (30–79%) | In 1 condition |
| IGF1Rinsulin like growth factor 1 receptor | Often (30–79%) | In 2 conditions |
| IGF2insulin like growth factor 2 | Often (30–79%) | In 4 conditions |
| IL6STinterleukin 6 cytokine family signal transducer | Often (30–79%) | In 1 condition |
| INPPL1inositol polyphosphate phosphatase like 1 | Often (30–79%) | In 1 condition |
| INSinsulin | Often (30–79%) | In 1 condition |
| KBTBD13kelch repeat and BTB domain containing 13 | Often (30–79%) | In 1 condition |
| KCNC3potassium voltage-gated channel subfamily C member 3 | Often (30–79%) | In 2 conditions |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Often (30–79%) | In 1 condition |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Often (30–79%) | In 1 condition |
| KDM6Alysine demethylase 6A | Often (30–79%) | In 1 condition |
| KLHL40kelch like family member 40 | Often (30–79%) | In 1 condition |
| KLHL41kelch like family member 41 | Often (30–79%) | In 4 conditions |
| KMT2Blysine methyltransferase 2B | Often (30–79%) | In 1 condition |
| KMT2Dlysine methyltransferase 2D | Often (30–79%) | In 1 condition |
| KPTNkaptin, actin binding protein | Often (30–79%) | In 1 condition |
| KRASKRas proto-oncogene, GTPase | Often (30–79%) | In 1 condition |
| LAMB2laminin subunit beta 2 | Often (30–79%) | In 2 conditions |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Often (30–79%) | In 2 conditions |
| LMOD3leiomodin 3 | Often (30–79%) | In 1 condition |
| LTBP1latent transforming growth factor beta binding protein 1 | Often (30–79%) | In 1 condition |
| MAN2B1mannosidase alpha class 2B member 1 | Often (30–79%) | In 1 condition |
| MAP2K1mitogen-activated protein kinase kinase 1 | Often (30–79%) | In 1 condition |
| MAP2K2mitogen-activated protein kinase kinase 2 | Often (30–79%) | In 1 condition |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Often (30–79%) | In 2 conditions |
| MARK2microtubule affinity regulating kinase 2 | Often (30–79%) | In 1 condition |
| MCM3APminichromosome maintenance complex component 3 associated protein | Often (30–79%) | In 1 condition |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Often (30–79%) | In 1 condition |
| MED12Lmediator complex subunit 12L | Often (30–79%) | In 1 condition |
| MPV17mitochondrial inner membrane protein MPV17 | Often (30–79%) | In 1 condition |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Often (30–79%) | In 2 conditions |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Often (30–79%) | In 1 condition |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Often (30–79%) | In 1 condition |
| MTPAPmitochondrial poly(A) polymerase | Often (30–79%) | In 1 condition |
| MYL2myosin light chain 2 | Often (30–79%) | In 1 condition |
| MYO18Bmyosin XVIIIB | Often (30–79%) | In 1 condition |
| MYO7Amyosin VIIA | Often (30–79%) | In 2 conditions |
| MYPNmyopalladin | Often (30–79%) | In 2 conditions |
| MYT1Lmyelin transcription factor 1 like | Often (30–79%) | In 1 condition |
| NDUFA8NADH:ubiquinone oxidoreductase subunit A8 | Often (30–79%) | In 1 condition |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Often (30–79%) | In 1 condition |
| NEBnebulin | Often (30–79%) | In 4 conditions |
| NEFLneurofilament light chain | Often (30–79%) | In 5 conditions |
| NFIBnuclear factor I B | Often (30–79%) | In 1 condition |
| NFIXnuclear factor I X | Often (30–79%) | In 3 conditions |
| NIPA1NIPA magnesium transporter 1 | Often (30–79%) | In 1 condition |
| NIPA2NIPA magnesium transporter 2 | Often (30–79%) | In 1 condition |
| NKX2-5NK2 homeobox 5 | Often (30–79%) | In 1 condition |
| NKX3-2NK3 homeobox 2 | Often (30–79%) | In 1 condition |
| NOTCH3notch receptor 3 | Often (30–79%) | In 2 conditions |
| NRASNRAS proto-oncogene, GTPase | Often (30–79%) | In 1 condition |
| NRCAMneuronal cell adhesion molecule | Often (30–79%) | In 1 condition |
| NSD1nuclear receptor binding SET domain protein 1 | Often (30–79%) | In 2 conditions |
| NSUN6NOP2/Sun RNA methyltransferase 6 | Often (30–79%) | In 1 condition |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Often (30–79%) | In 1 condition |
| OGDHoxoglutarate dehydrogenase | Often (30–79%) | In 1 condition |
| PACSIN3protein kinase C and casein kinase substrate in neurons 3 | Often (30–79%) | In 1 condition |
| PCDH15protocadherin related 15 | Often (30–79%) | In 2 conditions |
| PCDH19protocadherin 19 | Often (30–79%) | In 1 condition |
| PDE10Aphosphodiesterase 10A | Often (30–79%) | In 2 conditions |
| PDX1pancreatic and duodenal homeobox 1 | Often (30–79%) | In 1 condition |
| PHKG2phosphorylase kinase catalytic subunit gamma 2 | Often (30–79%) | In 1 condition |
| PLAG1PLAG1 zinc finger | Often (30–79%) | In 1 condition |
| PLECplectin | Often (30–79%) | In 2 conditions |
| PLPBPpyridoxal phosphate binding protein | Often (30–79%) | In 1 condition |
| PLXND1plexin D1 | Often (30–79%) | In 1 condition |
| PNPLA2patatin like domain 2, triacylglycerol lipase | Often (30–79%) | In 1 condition |
| POGZpogo transposable element derived with ZNF domain | Often (30–79%) | In 1 condition |
| POLD3DNA polymerase delta 3, accessory subunit | Often (30–79%) | In 1 condition |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Often (30–79%) | In 1 condition |
| POMT1protein O-mannosyltransferase 1 | Often (30–79%) | In 3 conditions |
| POMT2protein O-mannosyltransferase 2 | Often (30–79%) | In 3 conditions |
| PPP1R13Lprotein phosphatase 1 regulatory subunit 13 like | Often (30–79%) | In 1 condition |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Often (30–79%) | In 3 conditions |
| PSMC3proteasome 26S subunit, ATPase 3 | Often (30–79%) | In 1 condition |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Often (30–79%) | In 1 condition |
| PTENphosphatase and tensin homolog | Often (30–79%) | In 2 conditions |
| PURApurine rich element binding protein A | Often (30–79%) | In 1 condition |
| PUS7pseudouridine synthase 7 | Often (30–79%) | In 1 condition |
| RAC1Rac family small GTPase 1 | Often (30–79%) | In 1 condition |
| RAI1retinoic acid induced 1 | Often (30–79%) | In 1 condition |
| RAP1BRAP1B, member of RAS oncogene family | Often (30–79%) | In 1 condition |
| REPS1RALBP1 associated Eps domain containing 1 | Often (30–79%) | In 1 condition |
| REV3LREV3 like, DNA directed polymerase zeta catalytic subunit | Often (30–79%) | In 1 condition |
| RNF170ring finger protein 170 | Often (30–79%) | In 1 condition |
| RNF220ring finger protein 220 | Often (30–79%) | In 1 condition |
| RPS23ribosomal protein S23 | Often (30–79%) | In 1 condition |
| RUSC2RUN and SH3 domain containing 2 | Often (30–79%) | In 1 condition |
| SCO2synthesis of cytochrome C oxidase 2 | Often (30–79%) | In 2 conditions |
| SCYL1SCY1 like pseudokinase 1 | Often (30–79%) | In 1 condition |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Often (30–79%) | In 1 condition |
| SDHAF1succinate dehydrogenase complex assembly factor 1 | Often (30–79%) | In 1 condition |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Often (30–79%) | In 1 condition |
| SDHDsuccinate dehydrogenase complex subunit D | Often (30–79%) | In 1 condition |
| SELENONselenoprotein N | Often (30–79%) | In 2 conditions |
| SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | Often (30–79%) | In 1 condition |
| SH2B1SH2B adaptor protein 1 | Often (30–79%) | In 1 condition |
| SIN3ASIN3 transcription regulator family member A | Often (30–79%) | In 1 condition |
| SLC1A4solute carrier family 1 member 4 | Often (30–79%) | In 1 condition |
| SLC25A15solute carrier family 25 member 15 | Often (30–79%) | In 1 condition |
| SLC37A4solute carrier family 37 member 4 | Often (30–79%) | In 1 condition |
| SLC39A13solute carrier family 39 member 13 | Often (30–79%) | In 1 condition |
| SMC5structural maintenance of chromosomes 5 | Often (30–79%) | In 1 condition |
| SMPD1sphingomyelin phosphodiesterase 1 | Often (30–79%) | In 1 condition |
| SPRsepiapterin reductase | Often (30–79%) | In 1 condition |
| SRSF1serine and arginine rich splicing factor 1 | Often (30–79%) | In 1 condition |
| STAT3signal transducer and activator of transcription 3 | Often (30–79%) | In 1 condition |
| STT3ASTT3 oligosaccharyltransferase complex catalytic subunit A | Often (30–79%) | In 1 condition |
| SVBPsmall vasohibin binding protein | Often (30–79%) | In 1 condition |
| TANC2tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 | Often (30–79%) | In 1 condition |
| TAOK1TAO kinase 1 | Often (30–79%) | In 1 condition |
| THtyrosine hydroxylase | Often (30–79%) | In 2 conditions |
| TNNC2troponin C2, fast skeletal type | Often (30–79%) | In 1 condition |
| TNNT1troponin T1, slow skeletal type | Often (30–79%) | In 2 conditions |
| TPM3tropomyosin 3 | Often (30–79%) | In 5 conditions |
| TRAF7TNF receptor associated factor 7 | Often (30–79%) | In 1 condition |
| TRPV6transient receptor potential cation channel subfamily V member 6 | Often (30–79%) | In 1 condition |
| TSEN15tRNA splicing endonuclease subunit 15 | Often (30–79%) | In 1 condition |
| TSEN2tRNA splicing endonuclease subunit 2 | Often (30–79%) | In 1 condition |
| TSEN34tRNA splicing endonuclease subunit 34 | Often (30–79%) | In 1 condition |
| TSEN54tRNA splicing endonuclease subunit 54 | Often (30–79%) | In 1 condition |
| TSHBthyroid stimulating hormone subunit beta | Often (30–79%) | In 1 condition |
| TSHRthyroid stimulating hormone receptor | Often (30–79%) | In 3 conditions |
| TSPOAP1TSPO associated protein 1 | Often (30–79%) | In 1 condition |
| TUBB4Atubulin beta 4A class IVa | Often (30–79%) | In 1 condition |
| TUBG1tubulin gamma 1 | Often (30–79%) | In 1 condition |
| USH1CUSH1 protein network component harmonin | Often (30–79%) | In 2 conditions |
| USH1GUSH1 protein network component sans | Often (30–79%) | In 1 condition |
| YARS2tyrosyl-tRNA synthetase 2 | Often (30–79%) | In 1 condition |
| ZMIZ1zinc finger MIZ-type containing 1 | Often (30–79%) | In 1 condition |
| ZMYM3zinc finger MYM-type containing 3 | Often (30–79%) | In 1 condition |
| ZNF462zinc finger protein 462 | Often (30–79%) | In 1 condition |
| ZNF711ZFX family zinc finger ZNF711 | Often (30–79%) | In 1 condition |
| ZRSR2zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 | Often (30–79%) | In 1 condition |
| ABCA12ATP binding cassette subfamily A member 12 | Sometimes (5–29%) | In 1 condition |
| ACAT1acetyl-CoA acetyltransferase 1 | Sometimes (5–29%) | In 1 condition |
| ACP5acid phosphatase 5, tartrate resistant | Sometimes (5–29%) | In 1 condition |
| ADAMTSL2ADAMTS like 2 | Sometimes (5–29%) | In 1 condition |
| ADNPactivity dependent neuroprotector homeobox | Sometimes (5–29%) | In 1 condition |
| AGR2anterior gradient 2, protein disulphide isomerase family member | Sometimes (5–29%) | In 1 condition |
| AIPL1AIP like 1 HSP90 co-chaperone | Sometimes (5–29%) | In 1 condition |
| ALDOAaldolase, fructose-bisphosphate A | Sometimes (5–29%) | In 1 condition |
| ALMS1ALMS1 centrosome and basal body associated protein | Sometimes (5–29%) | In 1 condition |
| ASLargininosuccinate lyase | Sometimes (5–29%) | In 1 condition |
| ATL1atlastin GTPase 1 | Sometimes (5–29%) | In 2 conditions |
| BMPR1Abone morphogenetic protein receptor type 1A | Sometimes (5–29%) | In 1 condition |
| CABP4calcium binding protein 4 | Sometimes (5–29%) | In 1 condition |
| CEP290centrosomal protein 290 | Sometimes (5–29%) | In 1 condition |
| COL2A1collagen type II alpha 1 chain | Sometimes (5–29%) | In 2 conditions |
| COL5A1collagen type V alpha 1 chain | Sometimes (5–29%) | In 1 condition |
| COL5A2collagen type V alpha 2 chain | Sometimes (5–29%) | In 1 condition |
| CRB1crumbs cell polarity complex component 1 | Sometimes (5–29%) | In 1 condition |
| CRXcone-rod homeobox | Sometimes (5–29%) | In 1 condition |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Sometimes (5–29%) | In 2 conditions |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Sometimes (5–29%) | In 1 condition |
| DOLKdolichol kinase | Sometimes (5–29%) | In 1 condition |
| EHMT1euchromatic histone lysine methyltransferase 1 | Sometimes (5–29%) | In 1 condition |
| ELNelastin | Sometimes (5–29%) | In 1 condition |
| EPRS1glutamyl-prolyl-tRNA synthetase 1 | Sometimes (5–29%) | In 1 condition |
| FIG4FIG4 phosphoinositide 5-phosphatase | Sometimes (5–29%) | In 1 condition |
| FLGfilaggrin | Sometimes (5–29%) | In 1 condition |
| FZD4frizzled class receptor 4 | Sometimes (5–29%) | In 1 condition |
| GALK1galactokinase 1 | Sometimes (5–29%) | In 1 condition |
| GBF1golgi brefeldin A resistant guanine nucleotide exchange factor 1 | Sometimes (5–29%) | In 1 condition |
| GDF6growth differentiation factor 6 | Sometimes (5–29%) | In 1 condition |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Sometimes (5–29%) | In 1 condition |
| GRIK2glutamate ionotropic receptor kainate type subunit 2 | Sometimes (5–29%) | In 1 condition |
| GRM1glutamate metabotropic receptor 1 | Sometimes (5–29%) | In 1 condition |
| GUCY2Dguanylate cyclase 2D, retinal | Sometimes (5–29%) | In 1 condition |
| H19H19 imprinted maternally expressed transcript | Sometimes (5–29%) | In 2 conditions |
| H4C5H4 clustered histone 5 | Sometimes (5–29%) | In 1 condition |
| HADHhydroxyacyl-CoA dehydrogenase | Sometimes (5–29%) | In 1 condition |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Sometimes (5–29%) | In 1 condition |
| HADHBhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | Sometimes (5–29%) | In 1 condition |
| HNMThistamine N-methyltransferase | Sometimes (5–29%) | In 1 condition |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Sometimes (5–29%) | In 1 condition |
| IDH1isocitrate dehydrogenase (NADP(+)) 1 | Sometimes (5–29%) | In 1 condition |
| IFT140intraflagellar transport 140 | Sometimes (5–29%) | In 1 condition |
| IMPDH1inosine monophosphate dehydrogenase 1 | Sometimes (5–29%) | In 1 condition |
| IQCB1IQ motif containing B1 | Sometimes (5–29%) | In 1 condition |
| IVDisovaleryl-CoA dehydrogenase | Sometimes (5–29%) | In 1 condition |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Sometimes (5–29%) | In 1 condition |
| KCNJ13potassium inwardly rectifying channel subfamily J member 13 | Sometimes (5–29%) | In 1 condition |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Sometimes (5–29%) | In 1 condition |
| KMT2Clysine methyltransferase 2C | Sometimes (5–29%) | In 1 condition |
| LAMP2lysosome associated membrane protein 2 | Sometimes (5–29%) | In 1 condition |
| LARS2leucyl-tRNA synthetase 2, mitochondrial | Sometimes (5–29%) | In 1 condition |
| LCA5lebercilin LCA5 | Sometimes (5–29%) | In 1 condition |
| LRATlecithin retinol acyltransferase | Sometimes (5–29%) | In 1 condition |
| LRP5LDL receptor related protein 5 | Sometimes (5–29%) | In 1 condition |
| MAOAmonoamine oxidase A | Sometimes (5–29%) | In 1 condition |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Sometimes (5–29%) | In 1 condition |
| MORC2MORC family CW-type zinc finger 2 | Sometimes (5–29%) | In 1 condition |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Sometimes (5–29%) | In 1 condition |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Sometimes (5–29%) | In 1 condition |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Sometimes (5–29%) | In 1 condition |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Sometimes (5–29%) | In 1 condition |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Sometimes (5–29%) | In 1 condition |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Sometimes (5–29%) | In 1 condition |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Sometimes (5–29%) | In 1 condition |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Sometimes (5–29%) | In 1 condition |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Sometimes (5–29%) | In 1 condition |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Sometimes (5–29%) | In 1 condition |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Sometimes (5–29%) | In 1 condition |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Sometimes (5–29%) | In 2 conditions |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Sometimes (5–29%) | In 1 condition |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Sometimes (5–29%) | In 1 condition |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Sometimes (5–29%) | In 1 condition |
| NDPnorrin cystine knot growth factor NDP | Sometimes (5–29%) | In 1 condition |
| NEU1neuraminidase 1 | Sometimes (5–29%) | In 1 condition |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Sometimes (5–29%) | In 1 condition |
| ORC6origin recognition complex subunit 6 | Sometimes (5–29%) | In 1 condition |
| OTX2orthodenticle homeobox 2 | Sometimes (5–29%) | In 1 condition |
| PCBD1pterin-4 alpha-carbinolamine dehydratase 1 | Sometimes (5–29%) | In 1 condition |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Sometimes (5–29%) | In 1 condition |
| PDK3pyruvate dehydrogenase kinase 3 | Sometimes (5–29%) | In 1 condition |
| PGM1phosphoglucomutase 1 | Sometimes (5–29%) | In 1 condition |
| PHKA2phosphorylase kinase regulatory subunit alpha 2 | Sometimes (5–29%) | In 1 condition |
| POLR1DRNA polymerase I and III subunit D | Sometimes (5–29%) | In 1 condition |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Sometimes (5–29%) | In 2 conditions |
| PRKRAprotein activator of interferon induced protein kinase EIF2AK2 | Sometimes (5–29%) | In 2 conditions |
| PRPH2peripherin 2 | Sometimes (5–29%) | In 1 condition |
| PTS6-pyruvoyltetrahydropterin synthase | Sometimes (5–29%) | In 1 condition |
| PYGLglycogen phosphorylase L | Sometimes (5–29%) | In 1 condition |
| RARS1arginyl-tRNA synthetase 1 | Sometimes (5–29%) | In 1 condition |
| RCC1regulator of chromosome condensation 1 | Sometimes (5–29%) | In 1 condition |
| RD3RD3 regulator of GUCY2D | Sometimes (5–29%) | In 1 condition |
| RDH12retinol dehydrogenase 12 | Sometimes (5–29%) | In 1 condition |
| RECQL4RecQ like helicase 4 | Sometimes (5–29%) | In 1 condition |
| RNF125ring finger protein 125 | Sometimes (5–29%) | In 1 condition |
| RPE65retinoid isomerohydrolase RPE65 | Sometimes (5–29%) | In 1 condition |
| RPGRIP1RPGR interacting protein 1 | Sometimes (5–29%) | In 1 condition |
| RPS6KA3ribosomal protein S6 kinase A3 | Sometimes (5–29%) | In 1 condition |
| RRAS2RAS related 2 | Sometimes (5–29%) | In 1 condition |
| SARDHsarcosine dehydrogenase | Sometimes (5–29%) | In 1 condition |
| SBF2SET binding factor 2 | Sometimes (5–29%) | In 1 condition |
| SLC12A2solute carrier family 12 member 2 | Sometimes (5–29%) | In 1 condition |
| SPATA7spermatogenesis associated 7 | Sometimes (5–29%) | In 1 condition |
| SPENspen family transcriptional repressor | Sometimes (5–29%) | In 1 condition |
| STSsteroid sulfatase | Sometimes (5–29%) | In 1 condition |
| SYT2synaptotagmin 2 | Sometimes (5–29%) | In 1 condition |
| TMEM38Btransmembrane protein 38B | Sometimes (5–29%) | In 1 condition |
| TNFRSF11BTNF receptor superfamily member 11b | Sometimes (5–29%) | In 1 condition |
| TNPO3transportin 3 | Sometimes (5–29%) | In 1 condition |
| TRMT1tRNA methyltransferase 1 | Sometimes (5–29%) | In 1 condition |
| TSPAN12tetraspanin 12 | Sometimes (5–29%) | In 1 condition |
| TUBB4Btubulin beta 4B class IVb | Sometimes (5–29%) | In 1 condition |
| TULP1TUB like protein 1 | Sometimes (5–29%) | In 1 condition |
| UPB1beta-ureidopropionase 1 | Sometimes (5–29%) | In 1 condition |
| USP45ubiquitin specific peptidase 45 | Sometimes (5–29%) | In 1 condition |
| VMA21vacuolar ATPase assembly factor VMA21 | Sometimes (5–29%) | In 1 condition |
| VPS13Dvacuolar protein sorting 13 homolog D | Sometimes (5–29%) | In 1 condition |
| WDR62WD repeat domain 62 | Sometimes (5–29%) | In 1 condition |
| ZIC1Zic family zinc finger 1 | Sometimes (5–29%) | In 1 condition |
| ZIC4Zic family zinc finger 4 | Sometimes (5–29%) | In 1 condition |
| ZNF408zinc finger protein 408 | Sometimes (5–29%) | In 1 condition |
| ANTXR1ANTXR cell adhesion molecule 1 | Rarely (1–4%) | In 1 condition |
| COL3A1collagen type III alpha 1 chain | Rarely (1–4%) | In 1 condition |
| GBA1glucosylceramidase beta 1 | Rarely (1–4%) | In 2 conditions |
| MYRFmyelin regulatory factor | Rarely (1–4%) | In 1 condition |
| NEK1NIMA related kinase 1 | Rarely (1–4%) | In 1 condition |
| SGMS2sphingomyelin synthase 2 | Rarely (1–4%) | In 1 condition |
| SPRED1sprouty related EVH1 domain containing 1 | Rarely (1–4%) | In 1 condition |
| AHCYadenosylhomocysteinase | Not recorded | In 1 condition |
| AHI1Abelson helper integration site 1 | Not recorded | In 1 condition |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Not recorded | In 1 condition |
| ANAPC7anaphase promoting complex subunit 7 | Not recorded | In 1 condition |
| APTXaprataxin | Not recorded | In 1 condition |
| ARCN1archain 1 coat protein complex I subunit delta | Not recorded | In 1 condition |
| ARHGEF2Rho/Rac guanine nucleotide exchange factor 2 | Not recorded | In 1 condition |
| ARID2AT-rich interaction domain 2 | Not recorded | In 1 condition |
| ASAH1N-acylsphingosine amidohydrolase 1 | Not recorded | In 1 condition |
| AUHAU RNA binding methylglutaconyl-CoA hydratase | Not recorded | In 1 condition |
| CANT1calcium activated nucleotidase 1 | Not recorded | In 1 condition |
| CDK8cyclin dependent kinase 8 | Not recorded | In 1 condition |
| CHKBcholine kinase beta | Not recorded | In 1 condition |
| CHRNA1cholinergic receptor nicotinic alpha 1 subunit | Not recorded | In 1 condition |
| CHRNEcholinergic receptor nicotinic epsilon subunit | Not recorded | In 1 condition |
| CHST14carbohydrate sulfotransferase 14 | Not recorded | In 1 condition |
| CNOT2CCR4-NOT transcription complex subunit 2 | Not recorded | In 1 condition |
| COQ2coenzyme Q2, polyprenyltransferase | Not recorded | In 1 condition |
| COQ7coenzyme Q7, hydroxylase | Not recorded | In 1 condition |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Not recorded | In 1 condition |
| COX15cytochrome c oxidase assembly factor COX15 | Not recorded | In 1 condition |
| COX6B1cytochrome c oxidase subunit 6B1 | Not recorded | In 1 condition |
| CTDP1CTD phosphatase 1 | Not recorded | In 1 condition |
| CYP2U1cytochrome P450 family 2 subfamily U member 1 | Not recorded | In 1 condition |
| DCXdoublecortin | Not recorded | In 1 condition |
| DNM2dynamin 2 | Not recorded | In 1 condition |
| DPYDdihydropyrimidine dehydrogenase | Not recorded | In 1 condition |
| EPG5ectopic P-granules 5 autophagy tethering factor | Not recorded | In 1 condition |
| EXOSC2exosome component 2 | Not recorded | In 1 condition |
| EXT2exostosin glycosyltransferase 2 | Not recorded | In 1 condition |
| FASTKD2FASTK mitochondrial RNA regulator 2 | Not recorded | In 1 condition |
| FBN2fibrillin 2 | Not recorded | In 1 condition |
| FDX2ferredoxin 2 | Not recorded | In 1 condition |
| FGFR3fibroblast growth factor receptor 3 | Not recorded | In 1 condition |
| FLNAfilamin A | Not recorded | In 1 condition |
| FOXG1forkhead box G1 | Not recorded | In 1 condition |
| GFM1G elongation factor mitochondrial 1 | Not recorded | In 1 condition |
| GLE1GLE1 RNA export mediator | Not recorded | In 1 condition |
| GTF2E2general transcription factor IIE subunit 2 | Not recorded | In 1 condition |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Not recorded | In 1 condition |
| HPRT1hypoxanthine phosphoribosyltransferase 1 | Not recorded | In 1 condition |
| HYCC1hyccin PI4KA lipid kinase complex subunit 1 | Not recorded | In 1 condition |
| KAT6Blysine acetyltransferase 6B | Not recorded | In 1 condition |
| KDELR2KDEL endoplasmic reticulum protein retention receptor 2 | Not recorded | In 1 condition |
| KDM1Alysine demethylase 1A | Not recorded | In 1 condition |
| KIF7kinesin family member 7 | Not recorded | In 1 condition |
| KLC2kinesin light chain 2 | Not recorded | In 1 condition |
| LAMA1laminin subunit alpha 1 | Not recorded | In 1 condition |
| LMNAlamin A/C | Not recorded | In 1 condition |
| MAPRE2microtubule associated protein RP/EB family member 2 | Not recorded | In 1 condition |
| MED12mediator complex subunit 12 | Not recorded | In 1 condition |
| MEGF10multiple EGF like domains 10 | Not recorded | In 1 condition |
| MLC1modulator of VRAC current 1 | Not recorded | In 1 condition |
| MMP13matrix metallopeptidase 13 | Not recorded | In 1 condition |
| MPDZmultiple PDZ domain crumbs cell polarity complex component | Not recorded | In 1 condition |
| MT-TNmitochondrially encoded tRNA-Asn (AAU/C) | Not recorded | In 1 condition |
| MTM1myotubularin 1 | Not recorded | In 1 condition |
| MTMR14myotubularin related protein 14 | Not recorded | In 1 condition |
| MTMR2myotubularin related protein 2 | Not recorded | In 1 condition |
| MUSKmuscle associated receptor tyrosine kinase | Not recorded | In 1 condition |
| MYL1myosin light chain 1 | Not recorded | In 1 condition |
| MYO9Amyosin IXA | Not recorded | In 1 condition |
| NANSN-acetylneuraminate synthase | Not recorded | In 1 condition |
| NONOnon-POU domain containing octamer binding | Not recorded | In 1 condition |
| OPA1OPA1 mitochondrial dynamin like GTPase | Not recorded | In 1 condition |
| PAX7paired box 7 | Not recorded | In 1 condition |
| PBX1PBX homeobox 1 | Not recorded | In 1 condition |
| PNKPpolynucleotide kinase 3'-phosphatase | Not recorded | In 1 condition |
| PNPpurine nucleoside phosphorylase | Not recorded | In 1 condition |
| PREPLprolyl endopeptidase like | Not recorded | In 1 condition |
| PTCH1patched 1 | Not recorded | In 1 condition |
| PTPRQprotein tyrosine phosphatase receptor type Q | Not recorded | In 1 condition |
| RBM8ARNA binding motif protein 8A | Not recorded | In 1 condition |
| RIPK4receptor interacting serine/threonine kinase 4 | Not recorded | In 1 condition |
| RORARAR related orphan receptor A | Not recorded | In 1 condition |
| SAMD9sterile alpha motif domain containing 9 | Not recorded | In 1 condition |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Not recorded | In 1 condition |
| SCO1synthesis of cytochrome C oxidase 1 | Not recorded | In 1 condition |
| SH3TC2SH3 domain and tetratricopeptide repeats 2 | Not recorded | In 1 condition |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Not recorded | In 1 condition |
| SLC1A3solute carrier family 1 member 3 | Not recorded | In 1 condition |
| SLC25A1solute carrier family 25 member 1 | Not recorded | In 1 condition |
| SLC6A8solute carrier family 6 member 8 | Not recorded | In 1 condition |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Not recorded | In 1 condition |
| SURF1SURF1 cytochrome c oxidase assembly factor | Not recorded | In 1 condition |
| TACO1translational activator of cytochrome c oxidase I | Not recorded | In 1 condition |
| TCF4transcription factor 4 | Not recorded | In 1 condition |
| TENT5Aterminal nucleotidyltransferase 5A | Not recorded | In 1 condition |
| TKFCtriokinase and FMN cyclase | Not recorded | In 1 condition |
| TMCO1transmembrane and coiled-coil domains 1 | Not recorded | In 1 condition |
| TNFRSF11ATNF receptor superfamily member 11a | Not recorded | In 1 condition |
| TRIP11thyroid hormone receptor interactor 11 | Not recorded | In 1 condition |
| TRMT10AtRNA methyltransferase 10A | Not recorded | In 1 condition |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Not recorded | In 1 condition |
| TUBA1Atubulin alpha 1a | Not recorded | In 1 condition |
| TUBBtubulin beta class I | Not recorded | In 1 condition |
| VDRvitamin D receptor | Not recorded | In 1 condition |
| VPS13Bvacuolar protein sorting 13 homolog B | Not recorded | In 1 condition |
| ZEB2zinc finger E-box binding homeobox 2 | 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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