Trait
Generalized decreased muscle tone
Clinical name: Generalized hypotonia
Generalized muscular hypotonia (abnormally low muscle tone).
Summary
- Also called
- Generalised decreased muscle tone, Generalised hypotonia, Generalised muscular hypotonia, Generalized muscular hypotonia, Hypotonia, generalised, Hypotonia, generalized
- Body system
- Abnormality of the musculoskeletal system
Reference genomeGRCh38hg38
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Changes in these genes cause rare conditions in which Generalized decreased muscle tone 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 1 condition |
| ACTA1actin alpha 1, skeletal muscle | Always | In 3 conditions |
| ACY1aminoacylase 1 | Always | In 1 condition |
| ADAM22ADAM metallopeptidase domain 22 | Always | In 1 condition |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Always | In 2 conditions |
| AP2M1adaptor related protein complex 2 subunit mu 1 | Always | In 1 condition |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Always | In 1 condition |
| ARL13BARF like GTPase 13B | Always | In 1 condition |
| BCORBCL6 corepressor | Always | In 1 condition |
| CACNA2D2calcium voltage-gated channel auxiliary subunit alpha2delta 2 | Always | In 1 condition |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Always | In 1 condition |
| CHKBcholine kinase beta | Always | In 1 condition |
| CNOT2CCR4-NOT transcription complex subunit 2 | Always | In 1 condition |
| COG7component of oligomeric golgi complex 7 | Always | In 1 condition |
| COL1A1collagen type I alpha 1 chain | Always | In 2 conditions |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Always | In 2 conditions |
| COX15cytochrome c oxidase assembly factor COX15 | Always | In 1 condition |
| COX18cytochrome c oxidase assembly factor COX18 | Always | In 1 condition |
| COX4I1cytochrome c oxidase subunit 4I1 | Always | In 1 condition |
| COX6A2cytochrome c oxidase subunit 6A2 | Always | In 1 condition |
| COX6B1cytochrome c oxidase subunit 6B1 | Always | In 2 conditions |
| DAG1dystroglycan 1 | Always | In 1 condition |
| DALRD3DALR anticodon binding domain containing 3 | Always | In 2 conditions |
| DNM2dynamin 2 | Always | In 3 conditions |
| DSTdystonin | Always | In 2 conditions |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Always | In 1 condition |
| EBF3EBF transcription factor 3 | Always | In 1 condition |
| ECHS1enoyl-CoA hydratase, short chain 1 | Always | In 1 condition |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Always | In 1 condition |
| EN1engrailed homeobox 1 | Always | In 1 condition |
| ERI1exoribonuclease 1 | Always | In 1 condition |
| EXOSC5exosome component 5 | Always | In 1 condition |
| EXOSC9exosome component 9 | Always | In 1 condition |
| FAM177A1family with sequence similarity 177 member A1 | Always | In 1 condition |
| FARSAphenylalanyl-tRNA synthetase subunit alpha | Always | In 1 condition |
| FASTKD2FASTK mitochondrial RNA regulator 2 | Always | In 2 conditions |
| FDXRferredoxin reductase | Always | In 1 condition |
| FOXG1forkhead box G1 | Always | In 2 conditions |
| FOXP1forkhead box P1 | Always | In 1 condition |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Always | In 2 conditions |
Show 655 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| GALTgalactose-1-phosphate uridylyltransferase | Always | In 1 condition |
| GARS1glycyl-tRNA synthetase 1 | Always | In 1 condition |
| GCH1GTP cyclohydrolase 1 | Always | In 1 condition |
| GLB1galactosidase beta 1 | Always | In 1 condition |
| GLULglutamate-ammonia ligase | Always | In 1 condition |
| GMPPAGDP-mannose pyrophosphorylase A | Always | In 1 condition |
| GPHNgephyrin | Always | In 1 condition |
| GTPBP2GTP binding protein 2 | Always | In 1 condition |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Always | In 1 condition |
| IFT81intraflagellar transport 81 | Always | In 1 condition |
| INPP5Einositol polyphosphate-5-phosphatase E | Always | In 1 condition |
| IQSEC1IQ motif and Sec7 domain ArfGEF 1 | Always | In 1 condition |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Always | In 3 conditions |
| JKAMPJNK1/MAPK8 associated membrane protein | Always | In 1 condition |
| KCNMA1potassium calcium-activated channel subfamily M alpha 1 | Always | In 2 conditions |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Always | In 2 conditions |
| LMOD3leiomodin 3 | Always | In 1 condition |
| LONP1lon peptidase 1, mitochondrial | Always | In 1 condition |
| LRRC32leucine rich repeat containing 32 | Always | In 1 condition |
| LRRC7leucine rich repeat containing 7 | Always | In 1 condition |
| LYRM7LYR motif containing 7 | Always | In 1 condition |
| MARS2methionyl-tRNA synthetase 2, mitochondrial | Always | In 1 condition |
| MKS1MKS transition zone complex subunit 1 | Always | In 1 condition |
| MOCS3molybdenum cofactor synthesis 3 | Always | In 1 condition |
| MOGSmannosyl-oligosaccharide glucosidase | Always | In 1 condition |
| MPV17mitochondrial inner membrane protein MPV17 | Always | In 1 condition |
| MRPS14mitochondrial ribosomal protein S14 | Always | In 1 condition |
| MRPS22mitochondrial ribosomal protein S22 | Always | In 1 condition |
| MRPS28mitochondrial ribosomal protein S28 | Always | In 1 condition |
| MSL2MSL complex subunit 2 | Always | In 1 condition |
| MT-TNmitochondrially encoded tRNA-Asn (AAU/C) | Always | In 1 condition |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Always | In 1 condition |
| MTMR14myotubularin related protein 14 | Always | In 2 conditions |
| MYH2myosin heavy chain 2 | Always | In 1 condition |
| MYL2myosin light chain 2 | Always | In 1 condition |
| MYOD1myogenic differentiation 1 | Always | In 1 condition |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Always | In 2 conditions |
| NAV3neuron navigator 3 | Always | In 1 condition |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Always | In 1 condition |
| NDUFB8NADH:ubiquinone oxidoreductase subunit B8 | Always | In 1 condition |
| NECAP1NECAP endocytosis associated 1 | Always | In 2 conditions |
| NRASNRAS proto-oncogene, GTPase | Always | In 1 condition |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Always | In 2 conditions |
| ODC1ornithine decarboxylase 1 | Always | In 1 condition |
| OTX2orthodenticle homeobox 2 | Always | In 1 condition |
| PDE6Dphosphodiesterase 6D | Always | In 2 conditions |
| PDHBpyruvate dehydrogenase E1 subunit beta | Always | In 1 condition |
| PEX14peroxisomal biogenesis factor 14 | Always | In 1 condition |
| PEX6peroxisomal biogenesis factor 6 | Always | In 2 conditions |
| PIGKphosphatidylinositol glycan anchor biosynthesis class K | Always | In 1 condition |
| PIGSphosphatidylinositol glycan anchor biosynthesis class S | Always | In 1 condition |
| PLEKHG2pleckstrin homology and RhoGEF domain containing G2 | Always | In 1 condition |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Always | In 1 condition |
| PRDM13PR/SET domain 13 | Always | In 1 condition |
| RARS2arginyl-tRNA synthetase 2, mitochondrial | Always | In 1 condition |
| RFC4replication factor C subunit 4 | Always | In 1 condition |
| RNU2-2RNA, U2 small nuclear 2 | Always | In 1 condition |
| RPGRIP1LRPGRIP1 like | Always | In 2 conditions |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Always | In 1 condition |
| SCO1synthesis of cytochrome C oxidase 1 | Always | In 2 conditions |
| SCO2synthesis of cytochrome C oxidase 2 | Always | In 1 condition |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Always | In 2 conditions |
| SERPINH1serpin family H member 1 | Always | In 1 condition |
| SLC12A2solute carrier family 12 member 2 | Always | In 2 conditions |
| SLC25A10solute carrier family 25 member 10 | Always | In 1 condition |
| SMC1Astructural maintenance of chromosomes 1A | Always | In 1 condition |
| SPTBN4spectrin beta, non-erythrocytic 4 | Always | In 1 condition |
| SSR4signal sequence receptor subunit 4 | Always | In 2 conditions |
| STT3ASTT3 oligosaccharyltransferase complex catalytic subunit A | Always | In 1 condition |
| STT3BSTT3 oligosaccharyltransferase complex catalytic subunit B | Always | In 1 condition |
| SURF1SURF1 cytochrome c oxidase assembly factor | Always | In 1 condition |
| TACO1translational activator of cytochrome c oxidase I | Always | In 1 condition |
| TASP1taspase 1 | Always | In 1 condition |
| TBCKTBC1 domain containing kinase | Always | In 1 condition |
| TK2thymidine kinase 2 | Always | In 1 condition |
| TMEM63Btransmembrane protein 63B | Always | In 1 condition |
| TOR1Atorsin family 1 member A | Always | In 2 conditions |
| TRA2Btransformer 2 beta homolog | Always | In 1 condition |
| VPS51VPS51 subunit of GARP complex | Always | In 1 condition |
| WSB2WD repeat and SOCS box containing 2 | Always | In 1 condition |
| YIF1BYip1 interacting factor homolog B, membrane trafficking protein | Always | In 1 condition |
| ADSLadenylosuccinate lyase | Very often (80–99%) | In 2 conditions |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Very often (80–99%) | In 1 condition |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Very often (80–99%) | In 1 condition |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Very often (80–99%) | In 1 condition |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Very often (80–99%) | In 2 conditions |
| CHD1chromodomain helicase DNA binding protein 1 | Very often (80–99%) | In 1 condition |
| CHST3carbohydrate sulfotransferase 3 | Very often (80–99%) | In 1 condition |
| CPLX1complexin 1 | Very often (80–99%) | In 1 condition |
| CTBP1C-terminal binding protein 1 | Very often (80–99%) | In 1 condition |
| DDOSTdolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit | Very often (80–99%) | In 1 condition |
| DLDdihydrolipoamide dehydrogenase | Very often (80–99%) | In 1 condition |
| FGFRL1fibroblast growth factor receptor like 1 | Very often (80–99%) | In 1 condition |
| GANgigaxonin | Very often (80–99%) | In 1 condition |
| GNB1G protein subunit beta 1 | Very often (80–99%) | In 1 condition |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Very often (80–99%) | In 1 condition |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Very often (80–99%) | In 2 conditions |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Very often (80–99%) | In 1 condition |
| KIF7kinesin family member 7 | Very often (80–99%) | In 2 conditions |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Very often (80–99%) | In 1 condition |
| MAGEL2MAGE family member L2 | Very often (80–99%) | In 1 condition |
| MAMLD1mastermind like domain containing 1 | Very often (80–99%) | In 1 condition |
| MBOAT7membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7 | Very often (80–99%) | In 1 condition |
| MKRN3makorin ring finger protein 3 | Very often (80–99%) | In 1 condition |
| MN1MN1 proto-oncogene, transcriptional regulator | Very often (80–99%) | In 1 condition |
| MSL3MSL complex subunit 3 | Very often (80–99%) | In 1 condition |
| MT-TEmitochondrially encoded tRNA-Glu (GAA/G) | Very often (80–99%) | In 1 condition |
| MTM1myotubularin 1 | Very often (80–99%) | In 1 condition |
| MTX2metaxin 2 | Very often (80–99%) | In 1 condition |
| MYO5Amyosin VA | Very often (80–99%) | In 1 condition |
| NPAP1nuclear pore associated protein 1 | Very often (80–99%) | In 1 condition |
| NSD2nuclear receptor binding SET domain protein 2 | Very often (80–99%) | In 1 condition |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Very often (80–99%) | In 1 condition |
| POLR2ARNA polymerase II subunit A | Very often (80–99%) | In 1 condition |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Very often (80–99%) | In 2 conditions |
| 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 |
| RMND1required for meiotic nuclear division 1 homolog | Very often (80–99%) | In 1 condition |
| RMP64ribonuclease MRP subunit p64 | Very often (80–99%) | In 1 condition |
| RYR1ryanodine receptor 1 | Very often (80–99%) | In 4 conditions |
| SELENONselenoprotein N | Very often (80–99%) | In 3 conditions |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Very often (80–99%) | In 1 condition |
| SLC18A2solute carrier family 18 member A2 | 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 |
| TAF1TATA-box binding protein associated factor 1 | Very often (80–99%) | In 2 conditions |
| TRMUtRNA mitochondrial 2-thiouridylase | Very often (80–99%) | In 2 conditions |
| WASF1WASP family member 1 | Very often (80–99%) | In 1 condition |
| AARS1alanyl-tRNA synthetase 1 | Often (30–79%) | In 2 conditions |
| ACAD9acyl-CoA dehydrogenase family member 9 | Often (30–79%) | In 2 conditions |
| ACTL6Bactin like 6B | Often (30–79%) | In 1 condition |
| ALDH5A1aldehyde dehydrogenase 5 family member A1 | Often (30–79%) | In 1 condition |
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Often (30–79%) | In 1 condition |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Often (30–79%) | In 1 condition |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Often (30–79%) | In 2 conditions |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Often (30–79%) | In 2 conditions |
| ARSAarylsulfatase A | Often (30–79%) | In 4 conditions |
| ATCAYATCAY kinesin light chain interacting caytaxin | Often (30–79%) | In 1 condition |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Often (30–79%) | In 1 condition |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Often (30–79%) | In 2 conditions |
| ATP6V1AATPase H+ transporting V1 subunit A | Often (30–79%) | In 1 condition |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Often (30–79%) | In 1 condition |
| ATXN2ataxin 2 | Often (30–79%) | In 2 conditions |
| AUTS2activator of transcription and developmental regulator AUTS2 | Often (30–79%) | In 2 conditions |
| B4GALT7beta-1,4-galactosyltransferase 7 | Often (30–79%) | In 1 condition |
| BCL11ABCL11 transcription factor A | Often (30–79%) | In 1 condition |
| BIN1bridging integrator 1 | Often (30–79%) | In 2 conditions |
| BMP1bone morphogenetic protein 1 | Often (30–79%) | In 1 condition |
| BORCS8BLOC-1 related complex subunit 8 | Often (30–79%) | In 1 condition |
| BPTFbromodomain PHD finger transcription factor | Often (30–79%) | In 1 condition |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Often (30–79%) | In 2 conditions |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Often (30–79%) | In 1 condition |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Often (30–79%) | In 1 condition |
| CDK19cyclin dependent kinase 19 | Often (30–79%) | In 1 condition |
| CDKL5cyclin dependent kinase like 5 | Often (30–79%) | In 1 condition |
| CDONcell adhesion associated, oncogene regulated | Often (30–79%) | In 1 condition |
| CELF2CUGBP Elav-like family member 2 | Often (30–79%) | In 1 condition |
| CEP104centrosomal protein 104 | Often (30–79%) | In 1 condition |
| CHD8chromodomain helicase DNA binding protein 8 | Often (30–79%) | In 1 condition |
| CLCN6Cl-/H+ antiporter 6 | Often (30–79%) | In 1 condition |
| CLCN7Cl-/H+ antiporter 7 | Often (30–79%) | In 1 condition |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Often (30–79%) | In 1 condition |
| CLTCclathrin heavy chain | Often (30–79%) | In 1 condition |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Often (30–79%) | In 1 condition |
| COA8cytochrome c oxidase assembly factor 8 | Often (30–79%) | In 1 condition |
| COG6component of oligomeric golgi complex 6 | Often (30–79%) | In 1 condition |
| COL12A1collagen type XII alpha 1 chain | Often (30–79%) | In 2 conditions |
| COL13A1collagen type XIII alpha 1 chain | Often (30–79%) | In 1 condition |
| COL1A2collagen type I alpha 2 chain | Often (30–79%) | In 2 conditions |
| COL6A1collagen type VI alpha 1 chain | Often (30–79%) | In 1 condition |
| COL6A2collagen type VI alpha 2 chain | Often (30–79%) | In 1 condition |
| COL6A3collagen type VI alpha 3 chain | Often (30–79%) | In 1 condition |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Often (30–79%) | In 2 conditions |
| CRIPTOcripto, EGF-CFC family member | Often (30–79%) | In 1 condition |
| CRPPACDP-L-ribitol pyrophosphorylase A | Often (30–79%) | In 2 conditions |
| CSNK2Bcasein kinase 2 beta | Often (30–79%) | In 1 condition |
| CSPP1centrosome and spindle pole associated protein 1 | Often (30–79%) | In 1 condition |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Often (30–79%) | In 2 conditions |
| CYP11B2cytochrome P450 family 11 subfamily B member 2 | Often (30–79%) | In 1 condition |
| CYP27B1cytochrome P450 family 27 subfamily B member 1 | Often (30–79%) | In 2 conditions |
| CYP2R1cytochrome P450 family 2 subfamily R member 1 | Often (30–79%) | In 2 conditions |
| DDX3XDEAD-box helicase 3 X-linked | Often (30–79%) | In 1 condition |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Often (30–79%) | In 1 condition |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Often (30–79%) | In 2 conditions |
| DHX16DEAH-box helicase 16 | Often (30–79%) | In 1 condition |
| DISP1dispatched RND transporter family member 1 | Often (30–79%) | In 1 condition |
| DLL1delta like canonical Notch ligand 1 | Often (30–79%) | In 1 condition |
| DNA2DNA replication helicase/nuclease 2 | Often (30–79%) | In 1 condition |
| DNM1dynamin 1 | Often (30–79%) | In 3 conditions |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Often (30–79%) | In 2 conditions |
| DPM2dolichyl-phosphate mannosyltransferase subunit 2, regulatory | Often (30–79%) | In 2 conditions |
| EBPEBP cholestenol delta-isomerase | Often (30–79%) | In 1 condition |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Often (30–79%) | In 1 condition |
| ETHE1ETHE1 persulfide dioxygenase | Often (30–79%) | In 1 condition |
| FAM149B1family with sequence similarity 149 member B1 | Often (30–79%) | In 1 condition |
| FBXO22F-box protein 22 | Often (30–79%) | In 1 condition |
| FBXO28F-box protein 28 | Often (30–79%) | In 1 condition |
| FGF12fibroblast growth factor 12 | Often (30–79%) | In 1 condition |
| FGF8fibroblast growth factor 8 | Often (30–79%) | In 1 condition |
| FKRPfukutin related protein | Often (30–79%) | In 2 conditions |
| FKTNfukutin | Often (30–79%) | In 2 conditions |
| FLVCR1FLVCR choline and heme transporter 1 | Often (30–79%) | In 1 condition |
| FMN2formin 2 | Often (30–79%) | In 1 condition |
| FOXH1forkhead box H1 | Often (30–79%) | In 1 condition |
| FZR1fizzy and cell division cycle 20 related 1 | Often (30–79%) | In 1 condition |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Often (30–79%) | In 2 conditions |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Often (30–79%) | In 2 conditions |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Often (30–79%) | In 1 condition |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Often (30–79%) | In 1 condition |
| GAS1growth arrest specific 1 | Often (30–79%) | In 1 condition |
| GFPT1glutamine--fructose-6-phosphate transaminase 1 | Often (30–79%) | In 2 conditions |
| GLI2GLI family zinc finger 2 | Often (30–79%) | In 1 condition |
| GMPPBGDP-mannose pyrophosphorylase B | Often (30–79%) | In 1 condition |
| GPAA1glycosylphosphatidylinositol anchor attachment 1 | Often (30–79%) | In 1 condition |
| GPX4glutathione peroxidase 4 | Often (30–79%) | In 2 conditions |
| GRID2glutamate ionotropic receptor delta type subunit 2 | Often (30–79%) | In 1 condition |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Often (30–79%) | In 1 condition |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Often (30–79%) | In 1 condition |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Often (30–79%) | In 1 condition |
| ITCHitchy E3 ubiquitin protein ligase | Often (30–79%) | In 1 condition |
| KAT6Alysine acetyltransferase 6A | Often (30–79%) | In 1 condition |
| KATNIPkatanin interacting protein | Often (30–79%) | In 1 condition |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Often (30–79%) | In 1 condition |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Often (30–79%) | In 1 condition |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Often (30–79%) | In 1 condition |
| KCNC3potassium voltage-gated channel subfamily C member 3 | Often (30–79%) | In 1 condition |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Often (30–79%) | In 1 condition |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Often (30–79%) | In 1 condition |
| KCNK9potassium two pore domain channel subfamily K member 9 | Often (30–79%) | In 1 condition |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Often (30–79%) | In 1 condition |
| KDM3Blysine demethylase 3B | Often (30–79%) | In 1 condition |
| KDM6Alysine demethylase 6A | Often (30–79%) | In 1 condition |
| KIAA0586KIAA0586 | Often (30–79%) | In 2 conditions |
| KIAA0753KIAA0753 | Often (30–79%) | In 1 condition |
| KRASKRas proto-oncogene, GTPase | Often (30–79%) | In 1 condition |
| MAGmyelin associated glycoprotein | 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 |
| MAPK1mitogen-activated protein kinase 1 | Often (30–79%) | In 1 condition |
| MAST1microtubule associated serine/threonine kinase 1 | Often (30–79%) | In 1 condition |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Often (30–79%) | In 1 condition |
| MED12Lmediator complex subunit 12L | Often (30–79%) | In 1 condition |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Often (30–79%) | In 2 conditions |
| MICOS13mitochondrial contact site and cristae organizing system subunit 13 | Often (30–79%) | In 1 condition |
| MRE11MRE11 double strand break repair nuclease | Often (30–79%) | In 1 condition |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Often (30–79%) | In 2 conditions |
| MYF6myogenic factor 6 | Often (30–79%) | In 1 condition |
| MYH7myosin heavy chain 7 | Often (30–79%) | In 1 condition |
| MYO18Bmyosin XVIIIB | Often (30–79%) | In 1 condition |
| NAA20N-alpha-acetyltransferase 20, NatB catalytic subunit | Often (30–79%) | In 1 condition |
| NARS1asparaginyl-tRNA synthetase 1 | Often (30–79%) | In 2 conditions |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Often (30–79%) | In 1 condition |
| NDUFA11NADH:ubiquinone oxidoreductase subunit A11 | Often (30–79%) | In 1 condition |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Often (30–79%) | In 1 condition |
| NEMFnuclear export mediator factor | Often (30–79%) | In 1 condition |
| NKX6-2NK6 homeobox 2 | Often (30–79%) | In 1 condition |
| NODALnodal growth differentiation factor | Often (30–79%) | In 1 condition |
| NONOnon-POU domain containing octamer binding | Often (30–79%) | In 2 conditions |
| NOVA2NOVA alternative splicing regulator 2 | Often (30–79%) | In 1 condition |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Often (30–79%) | In 2 conditions |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Often (30–79%) | In 2 conditions |
| NUP214nucleoporin 214 | Often (30–79%) | In 1 condition |
| OFD1OFD1 centriole and centriolar satellite protein | Often (30–79%) | In 1 condition |
| OPHN1oligophrenin 1 | Often (30–79%) | In 2 conditions |
| OTUD6BOTU deubiquitinase 6B | Often (30–79%) | In 2 conditions |
| PACS2phosphofurin acidic cluster sorting protein 2 | Often (30–79%) | In 1 condition |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Often (30–79%) | In 1 condition |
| PAX7paired box 7 | Often (30–79%) | In 1 condition |
| PET100PET100 cytochrome c oxidase chaperone | Often (30–79%) | In 1 condition |
| PHF21APHD finger protein 21A | Often (30–79%) | In 1 condition |
| PLGplasminogen | Often (30–79%) | In 1 condition |
| PMP22peripheral myelin protein 22 | Often (30–79%) | In 1 condition |
| PNPLA2patatin like domain 2, triacylglycerol lipase | Often (30–79%) | In 2 conditions |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Often (30–79%) | In 1 condition |
| POGZpogo transposable element derived with ZNF domain | Often (30–79%) | In 1 condition |
| POLGDNA polymerase gamma, catalytic subunit | Often (30–79%) | In 4 conditions |
| POMT1protein O-mannosyltransferase 1 | Often (30–79%) | In 1 condition |
| POU3F3POU class 3 homeobox 3 | Often (30–79%) | In 1 condition |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Often (30–79%) | In 1 condition |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Often (30–79%) | In 1 condition |
| PRKCGprotein kinase C gamma | Often (30–79%) | In 1 condition |
| PRKD1protein kinase D1 | Often (30–79%) | In 1 condition |
| PSAPprosaposin | Often (30–79%) | In 3 conditions |
| PTCH1patched 1 | Often (30–79%) | In 1 condition |
| PUS1pseudouridine synthase 1 | Often (30–79%) | In 1 condition |
| RAI1retinoic acid induced 1 | Often (30–79%) | In 2 conditions |
| RBM10RNA binding motif protein 10 | Often (30–79%) | In 2 conditions |
| RELREL proto-oncogene, NF-kB subunit | Often (30–79%) | In 1 condition |
| RNU4ATACRNA, U4atac small nuclear | Often (30–79%) | In 2 conditions |
| ROBO3roundabout guidance receptor 3 | Often (30–79%) | In 1 condition |
| RORARAR related orphan receptor A | Often (30–79%) | In 1 condition |
| RSPRY1ring finger and SPRY domain containing 1 | Often (30–79%) | In 2 conditions |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Often (30–79%) | In 1 condition |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Often (30–79%) | In 2 conditions |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Often (30–79%) | In 2 conditions |
| SETD1ASET domain containing 1A, histone lysine methyltransferase | Often (30–79%) | In 1 condition |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Often (30–79%) | In 1 condition |
| SHHsonic hedgehog signaling molecule | Often (30–79%) | In 1 condition |
| SIX3SIX homeobox 3 | Often (30–79%) | In 2 conditions |
| SLC13A3solute carrier family 13 member 3 | Often (30–79%) | In 1 condition |
| SLC13A5solute carrier family 13 member 5 | Often (30–79%) | In 1 condition |
| SLC1A2solute carrier family 1 member 2 | Often (30–79%) | In 2 conditions |
| SLC25A15solute carrier family 25 member 15 | Often (30–79%) | In 1 condition |
| SLC38A3solute carrier family 38 member 3 | Often (30–79%) | In 1 condition |
| SPARTspartin | Often (30–79%) | In 1 condition |
| SPEGstriated muscle enriched protein kinase | Often (30–79%) | In 2 conditions |
| STAG2STAG2 cohesin complex component | Often (30–79%) | In 2 conditions |
| STILSTIL centriolar assembly protein | Often (30–79%) | In 1 condition |
| SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit | Often (30–79%) | In 1 condition |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Often (30–79%) | In 1 condition |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Often (30–79%) | In 1 condition |
| SYNJ1synaptojanin 1 | Often (30–79%) | In 1 condition |
| SZT2SZT2 subunit of KICSTOR complex | Often (30–79%) | In 1 condition |
| TANC2tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 | Often (30–79%) | In 1 condition |
| TBC1D20TBC1 domain family member 20 | Often (30–79%) | In 1 condition |
| TBCEtubulin folding cofactor E | Often (30–79%) | In 2 conditions |
| TCTN3tectonic family member 3 | Often (30–79%) | In 1 condition |
| TECPR2tectonin beta-propeller repeat containing 2 | Often (30–79%) | In 1 condition |
| TET3tet methylcytosine dioxygenase 3 | Often (30–79%) | In 1 condition |
| TGIF1TGFB induced factor homeobox 1 | Often (30–79%) | In 1 condition |
| TIMM50translocase of inner mitochondrial membrane 50 | Often (30–79%) | In 1 condition |
| TMEM216transmembrane protein 216 | Often (30–79%) | In 1 condition |
| TMEM231transmembrane protein 231 | Often (30–79%) | In 1 condition |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Often (30–79%) | In 1 condition |
| TRAK1trafficking kinesin protein 1 | Often (30–79%) | In 1 condition |
| TRIP4thyroid hormone receptor interactor 4 | Often (30–79%) | In 2 conditions |
| TTNtitin | Often (30–79%) | In 2 conditions |
| TUBB2Atubulin beta 2A class IIa | Often (30–79%) | In 1 condition |
| UBA5ubiquitin like modifier activating enzyme 5 | Often (30–79%) | In 1 condition |
| UFSP2UFM1 specific peptidase 2 | Often (30–79%) | In 1 condition |
| USP9Xubiquitin specific peptidase 9 X-linked | Often (30–79%) | In 1 condition |
| VARS1valyl-tRNA synthetase 1 | Often (30–79%) | In 1 condition |
| VMA22vacuolar ATPase assembly factor VMA22 | Often (30–79%) | In 1 condition |
| XPO1exportin 1 | Often (30–79%) | In 1 condition |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Often (30–79%) | In 1 condition |
| ZEB2zinc finger E-box binding homeobox 2 | Often (30–79%) | In 1 condition |
| ZIC2Zic family zinc finger 2 | Often (30–79%) | In 1 condition |
| ZNF462zinc finger protein 462 | Often (30–79%) | In 1 condition |
| ADARB1adenosine deaminase RNA specific B1 | Sometimes (5–29%) | In 1 condition |
| APCAPC regulator of Wnt signaling pathway | Sometimes (5–29%) | In 1 condition |
| ASXL3ASXL transcriptional regulator 3 | Sometimes (5–29%) | In 1 condition |
| ATXN1ataxin 1 | Sometimes (5–29%) | In 2 conditions |
| ATXN10ataxin 10 | Sometimes (5–29%) | In 1 condition |
| BMPR1Abone morphogenetic protein receptor type 1A | Sometimes (5–29%) | In 1 condition |
| CARS1cysteinyl-tRNA synthetase 1 | Sometimes (5–29%) | In 1 condition |
| CHMP1Acharged multivesicular body protein 1A | Sometimes (5–29%) | In 1 condition |
| COG1component of oligomeric golgi complex 1 | Sometimes (5–29%) | In 1 condition |
| CPT2carnitine palmitoyltransferase 2 | Sometimes (5–29%) | In 1 condition |
| DBR1debranching RNA lariats 1 | Sometimes (5–29%) | In 1 condition |
| EDN1endothelin 1 | Sometimes (5–29%) | In 1 condition |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Sometimes (5–29%) | In 1 condition |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Sometimes (5–29%) | In 1 condition |
| ERFETS2 repressor factor | Sometimes (5–29%) | In 1 condition |
| EXTL3exostosin like glycosyltransferase 3 | Sometimes (5–29%) | In 1 condition |
| FBXW11F-box and WD repeat domain containing 11 | Sometimes (5–29%) | In 1 condition |
| GLRX5glutaredoxin 5 | Sometimes (5–29%) | In 1 condition |
| GNAI3G protein subunit alpha i3 | Sometimes (5–29%) | In 1 condition |
| GNB2G protein subunit beta 2 | Sometimes (5–29%) | In 1 condition |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Sometimes (5–29%) | In 1 condition |
| GRIK2glutamate ionotropic receptor kainate type subunit 2 | Sometimes (5–29%) | In 1 condition |
| GTF2E2general transcription factor IIE subunit 2 | Sometimes (5–29%) | In 1 condition |
| GTF2H5general transcription factor IIH subunit 5 | Sometimes (5–29%) | In 1 condition |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Sometimes (5–29%) | In 1 condition |
| IDH1isocitrate dehydrogenase (NADP(+)) 1 | Sometimes (5–29%) | In 1 condition |
| KBTBD13kelch repeat and BTB domain containing 13 | Sometimes (5–29%) | In 1 condition |
| KIF1Akinesin family member 1A | Sometimes (5–29%) | In 2 conditions |
| KLHL41kelch like family member 41 | Sometimes (5–29%) | In 1 condition |
| LAMA1laminin subunit alpha 1 | Sometimes (5–29%) | In 1 condition |
| LRPPRCleucine rich pentatricopeptide repeat containing | Sometimes (5–29%) | In 1 condition |
| MPLKIPM-phase specific PLK1 interacting protein | Sometimes (5–29%) | In 1 condition |
| MYPNmyopalladin | Sometimes (5–29%) | In 2 conditions |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Sometimes (5–29%) | In 1 condition |
| NEBnebulin | Sometimes (5–29%) | In 1 condition |
| PCBD1pterin-4 alpha-carbinolamine dehydratase 1 | Sometimes (5–29%) | In 1 condition |
| PLCB4phospholipase C beta 4 | Sometimes (5–29%) | In 1 condition |
| PLCH1phospholipase C eta 1 | Sometimes (5–29%) | In 1 condition |
| POC1APOC1 centriolar protein A | Sometimes (5–29%) | In 1 condition |
| POLG2DNA polymerase gamma 2, accessory subunit | Sometimes (5–29%) | In 2 conditions |
| PRNPprion protein (Kanno blood group) | Sometimes (5–29%) | In 1 condition |
| PTCHD1patched domain containing 1 | Sometimes (5–29%) | In 1 condition |
| PTENphosphatase and tensin homolog | Sometimes (5–29%) | In 1 condition |
| PUF60poly(U) binding splicing factor 60 | Sometimes (5–29%) | In 1 condition |
| PUS3pseudouridine synthase 3 | Sometimes (5–29%) | In 1 condition |
| RNF113Aring finger protein 113A | Sometimes (5–29%) | In 1 condition |
| RNF13ring finger protein 13 | Sometimes (5–29%) | In 1 condition |
| RPL10ribosomal protein L10 | Sometimes (5–29%) | In 1 condition |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Sometimes (5–29%) | In 2 conditions |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Sometimes (5–29%) | In 1 condition |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Sometimes (5–29%) | In 1 condition |
| SDHAF1succinate dehydrogenase complex assembly factor 1 | Sometimes (5–29%) | In 1 condition |
| SDHDsuccinate dehydrogenase complex subunit D | Sometimes (5–29%) | In 1 condition |
| SLC25A26solute carrier family 25 member 26 | Sometimes (5–29%) | In 1 condition |
| SLC25A4solute carrier family 25 member 4 | Sometimes (5–29%) | In 2 conditions |
| SLC35C1solute carrier family 35 member C1 | Sometimes (5–29%) | In 1 condition |
| SLC9A7solute carrier family 9 member A7 | Sometimes (5–29%) | In 1 condition |
| SOX4SRY-box transcription factor 4 | Sometimes (5–29%) | In 1 condition |
| TARS1threonyl-tRNA synthetase 1 | Sometimes (5–29%) | In 1 condition |
| TDP2tyrosyl-DNA phosphodiesterase 2 | Sometimes (5–29%) | In 2 conditions |
| TMEM63Atransmembrane protein 63A | Sometimes (5–29%) | In 1 condition |
| TMEM94transmembrane protein 94 | Sometimes (5–29%) | In 1 condition |
| TNFRSF11ATNF receptor superfamily member 11a | Sometimes (5–29%) | In 1 condition |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Sometimes (5–29%) | In 1 condition |
| TPM2tropomyosin 2 | Sometimes (5–29%) | In 4 conditions |
| TPM3tropomyosin 3 | Sometimes (5–29%) | In 2 conditions |
| TWNKtwinkle mtDNA helicase | Sometimes (5–29%) | In 1 condition |
| UBA1ubiquitin like modifier activating enzyme 1 | Sometimes (5–29%) | In 1 condition |
| UGDHUDP-glucose 6-dehydrogenase | Sometimes (5–29%) | In 1 condition |
| AMMECR1AMMECR nuclear protein 1 | Rarely (1–4%) | In 1 condition |
| FLNAfilamin A | Rarely (1–4%) | In 1 condition |
| GFAPglial fibrillary acidic protein | Rarely (1–4%) | In 1 condition |
| KMT2Clysine methyltransferase 2C | Rarely (1–4%) | In 1 condition |
| MORC2MORC family CW-type zinc finger 2 | Rarely (1–4%) | In 1 condition |
| PUS7pseudouridine synthase 7 | Rarely (1–4%) | In 1 condition |
| THtyrosine hydroxylase | Rarely (1–4%) | In 1 condition |
| TSPOAP1TSPO associated protein 1 | Rarely (1–4%) | In 1 condition |
| ACADMacyl-CoA dehydrogenase medium chain | Not recorded | In 1 condition |
| ACAT2acetyl-CoA acetyltransferase 2 | Not recorded | In 1 condition |
| ACTBactin beta | Not recorded | In 1 condition |
| ACTN2actinin alpha 2 | Not recorded | In 1 condition |
| AGAaspartylglucosaminidase | Not recorded | In 1 condition |
| AGKacylglycerol kinase | Not recorded | In 1 condition |
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Not recorded | In 1 condition |
| AMER1APC membrane recruitment protein 1 | Not recorded | In 1 condition |
| ANK3ankyrin 3 | Not recorded | In 1 condition |
| ARFGEF2ARF guanine nucleotide exchange factor 2 | Not recorded | In 1 condition |
| ARHGAP31Rho GTPase activating protein 31 | Not recorded | In 1 condition |
| ARID2AT-rich interaction domain 2 | Not recorded | In 1 condition |
| ARL3ARF like GTPase 3 | Not recorded | In 1 condition |
| ARXaristaless related homeobox | Not recorded | In 1 condition |
| ASCC1activating signal cointegrator 1 complex subunit 1 | Not recorded | In 1 condition |
| ASPNATaspartate N-acetyltransferase | Not recorded | In 1 condition |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Not recorded | In 1 condition |
| BCKDHAbranched chain keto acid dehydrogenase E1 subunit alpha | Not recorded | In 1 condition |
| BCL11BBCL11 transcription factor B | Not recorded | In 1 condition |
| BCS1LBCS1 ubiquinol-cytochrome c reductase complex chaperone | Not recorded | In 1 condition |
| BLTP1bridge-like lipid transfer protein family member 1 | Not recorded | In 1 condition |
| BMPERBMP binding endothelial regulator | Not recorded | In 1 condition |
| BOLA3bolA family member 3 | Not recorded | In 1 condition |
| BSNDbarttin CLCNK type accessory subunit beta | Not recorded | In 1 condition |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Not recorded | In 1 condition |
| C2CD3C2 domain containing 3 centriole elongation regulator | Not recorded | In 1 condition |
| CAMK2Gcalcium/calmodulin dependent protein kinase II gamma | Not recorded | In 1 condition |
| CANT1calcium activated nucleotidase 1 | Not recorded | In 1 condition |
| CASRcalcium sensing receptor | Not recorded | In 1 condition |
| CD59CD59 molecule (CD59 blood group) | Not recorded | In 1 condition |
| CD96CD96 molecule | Not recorded | In 1 condition |
| CDC42cell division cycle 42 | Not recorded | In 1 condition |
| CDK10cyclin dependent kinase 10 | Not recorded | In 1 condition |
| CDK8cyclin dependent kinase 8 | Not recorded | In 1 condition |
| CEP290centrosomal protein 290 | Not recorded | In 1 condition |
| CEP41centrosomal protein 41 | Not recorded | In 1 condition |
| CHRNEcholinergic receptor nicotinic epsilon subunit | Not recorded | In 2 conditions |
| CHST14carbohydrate sulfotransferase 14 | Not recorded | In 1 condition |
| CLCN4Cl-/H+ antiporter 4 | Not recorded | In 1 condition |
| CLCNKAchloride voltage-gated channel Ka | Not recorded | In 1 condition |
| CLCNKBchloride voltage-gated channel Kb | Not recorded | In 1 condition |
| CNTNAP1contactin associated protein 1 | Not recorded | In 1 condition |
| CNTNAP2contactin associated protein 2 | Not recorded | In 1 condition |
| COL2A1collagen type II alpha 1 chain | Not recorded | In 1 condition |
| COLQcollagen like tail subunit of asymmetric acetylcholinesterase | Not recorded | In 1 condition |
| COQ7coenzyme Q7, hydroxylase | Not recorded | In 1 condition |
| COQ9coenzyme Q9 | Not recorded | In 1 condition |
| CPT1Acarnitine palmitoyltransferase 1A | Not recorded | In 1 condition |
| CTU2cytosolic thiouridylase subunit 2 | Not recorded | In 1 condition |
| CUL4Bcullin 4B | Not recorded | In 1 condition |
| DCHS1dachsous cadherin-related 1 | Not recorded | In 1 condition |
| DDX11DEAD/H-box helicase 11 | Not recorded | In 1 condition |
| DHCR77-dehydrocholesterol reductase | Not recorded | In 1 condition |
| DHFRdihydrofolate reductase | Not recorded | In 1 condition |
| DMPKDM1 protein kinase | Not recorded | In 1 condition |
| DNAJC12DnaJ heat shock protein family (Hsp40) member C12 | Not recorded | In 1 condition |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Not recorded | In 1 condition |
| DYNC1I2dynein cytoplasmic 1 intermediate chain 2 | Not recorded | In 1 condition |
| EEDembryonic ectoderm development | Not recorded | In 1 condition |
| EFNB1ephrin B1 | Not recorded | In 1 condition |
| EIF2B1eukaryotic translation initiation factor 2B subunit alpha | Not recorded | In 1 condition |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Not recorded | In 1 condition |
| ELNelastin | Not recorded | In 1 condition |
| ELP1elongator acetyltransferase complex subunit 1 | Not recorded | In 1 condition |
| EMC1ER membrane protein complex subunit 1 | Not recorded | In 1 condition |
| EP300EP300 lysine acetyltransferase | Not recorded | In 1 condition |
| EXOSC3exosome component 3 | Not recorded | In 1 condition |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Not recorded | In 1 condition |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Not recorded | In 1 condition |
| FDX2ferredoxin 2 | Not recorded | In 1 condition |
| FERRY3FERRY endosomal RAB5 effector complex subunit 3 | Not recorded | In 1 condition |
| FHfumarate hydratase | Not recorded | In 1 condition |
| FLAD1flavin adenine dinucleotide synthetase 1 | Not recorded | In 1 condition |
| FLCNfolliculin | Not recorded | In 1 condition |
| GABRB3gamma-aminobutyric acid type A receptor subunit beta3 | Not recorded | In 1 condition |
| GALEUDP-galactose-4-epimerase | Not recorded | In 1 condition |
| GALNT2polypeptide N-acetylgalactosaminyltransferase 2 | Not recorded | In 1 condition |
| GCDHglutaryl-CoA dehydrogenase | Not recorded | In 1 condition |
| GLDCglycine decarboxylase | Not recorded | In 1 condition |
| GLE1GLE1 RNA export mediator | Not recorded | In 1 condition |
| GM2Aganglioside GM2 activator | Not recorded | In 1 condition |
| GNAO1G protein subunit alpha o1 | Not recorded | In 1 condition |
| GNPATglyceronephosphate O-acyltransferase | Not recorded | In 1 condition |
| GRIN2Bglutamate ionotropic receptor NMDA type subunit 2B | Not recorded | In 1 condition |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Not recorded | In 1 condition |
| HADHhydroxyacyl-CoA dehydrogenase | Not recorded | In 1 condition |
| HDAC8histone deacetylase 8 | Not recorded | In 1 condition |
| HEXAhexosaminidase subunit alpha | Not recorded | In 1 condition |
| HLCSholocarboxylase synthetase | Not recorded | In 1 condition |
| HNRNPUheterogeneous nuclear ribonucleoprotein U | Not recorded | In 1 condition |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Not recorded | In 1 condition |
| HTRA2HtrA serine peptidase 2 | Not recorded | In 1 condition |
| IFIH1interferon induced with helicase C domain 1 | Not recorded | In 2 conditions |
| INPPL1inositol polyphosphate phosphatase like 1 | Not recorded | In 1 condition |
| IQSEC2IQ motif and Sec7 domain ArfGEF 2 | Not recorded | In 1 condition |
| ISCA2iron-sulfur cluster assembly 2 | Not recorded | In 1 condition |
| KAT6Blysine acetyltransferase 6B | Not recorded | In 1 condition |
| KCNJ10potassium inwardly rectifying channel subfamily J member 10 | Not recorded | In 1 condition |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Not recorded | In 1 condition |
| KDM1Alysine demethylase 1A | Not recorded | In 1 condition |
| KIF14kinesin family member 14 | Not recorded | In 1 condition |
| KIF22kinesin family member 22 | Not recorded | In 1 condition |
| KMT2Elysine methyltransferase 2E (inactive) | Not recorded | In 1 condition |
| LARS1leucyl-tRNA synthetase 1 | Not recorded | In 1 condition |
| LIASlipoic acid synthetase | Not recorded | In 1 condition |
| LIFRLIF receptor subunit alpha | Not recorded | In 1 condition |
| LMBRD1LMBR1 domain containing 1 | Not recorded | In 1 condition |
| MAN2B1mannosidase alpha class 2B member 1 | Not recorded | In 1 condition |
| MANBAmannosidase beta | Not recorded | In 1 condition |
| MAPRE2microtubule associated protein RP/EB family member 2 | Not recorded | In 1 condition |
| MCCC1methylcrotonyl-CoA carboxylase subunit 1 | Not recorded | In 1 condition |
| MCCC2methylcrotonyl-CoA carboxylase subunit 2 | Not recorded | In 1 condition |
| MCOLN1mucolipin TRP cation channel 1 | Not recorded | In 1 condition |
| MED12mediator complex subunit 12 | Not recorded | In 1 condition |
| MED13Lmediator complex subunit 13L | Not recorded | In 1 condition |
| MLXIPLMLX interacting protein like | Not recorded | In 1 condition |
| MLYCDmalonyl-CoA decarboxylase | 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 |
| MMADHCmetabolism of cobalamin associated D | Not recorded | In 1 condition |
| MPC1mitochondrial pyruvate carrier 1 | Not recorded | In 1 condition |
| MPImannose phosphate isomerase | Not recorded | In 1 condition |
| MTORmechanistic target of rapamycin kinase | Not recorded | In 1 condition |
| MUSKmuscle associated receptor tyrosine kinase | Not recorded | In 1 condition |
| MVKmevalonate kinase | Not recorded | In 1 condition |
| MYMKmyomaker, myoblast fusion factor | Not recorded | In 1 condition |
| NAGAalpha-N-acetylgalactosaminidase | Not recorded | In 1 condition |
| NANSN-acetylneuraminate synthase | Not recorded | In 1 condition |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Not recorded | In 1 condition |
| NDUFA12NADH:ubiquinone oxidoreductase subunit A12 | Not recorded | In 1 condition |
| NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5 | Not recorded | In 1 condition |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Not recorded | In 1 condition |
| NDUFS3NADH:ubiquinone oxidoreductase core subunit S3 | Not recorded | In 1 condition |
| NDUFS7NADH:ubiquinone oxidoreductase core subunit S7 | Not recorded | In 1 condition |
| NDUFV2NADH:ubiquinone oxidoreductase core subunit V2 | Not recorded | In 1 condition |
| NEU1neuraminidase 1 | Not recorded | In 1 condition |
| NKX2-1NK2 homeobox 1 | Not recorded | In 1 condition |
| NPC1NPC intracellular cholesterol transporter 1 | Not recorded | In 1 condition |
| NPHP1nephrocystin 1 | Not recorded | In 1 condition |
| NRXN1neurexin 1 | Not recorded | In 1 condition |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Not recorded | In 1 condition |
| PACS1phosphofurin acidic cluster sorting protein 1 | Not recorded | In 1 condition |
| PAK1p21 (RAC1) activated kinase 1 | Not recorded | In 1 condition |
| PBX1PBX homeobox 1 | Not recorded | In 1 condition |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Not recorded | In 1 condition |
| PDP1pyruvate dehydrogenase phosphatase catalytic subunit 1 | Not recorded | In 1 condition |
| PEX1peroxisomal biogenesis factor 1 | Not recorded | In 2 conditions |
| PEX12peroxisomal biogenesis factor 12 | Not recorded | In 2 conditions |
| PEX16peroxisomal biogenesis factor 16 | Not recorded | In 1 condition |
| PEX2peroxisomal biogenesis factor 2 | Not recorded | In 1 condition |
| PEX3peroxisomal biogenesis factor 3 | Not recorded | In 1 condition |
| PEX5peroxisomal biogenesis factor 5 | Not recorded | In 1 condition |
| PGM3phosphoglucomutase 3 | Not recorded | In 1 condition |
| PHF6PHD finger protein 6 | Not recorded | In 1 condition |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Not recorded | In 2 conditions |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Not recorded | In 1 condition |
| PIGHphosphatidylinositol glycan anchor biosynthesis class H | Not recorded | In 1 condition |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Not recorded | In 1 condition |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Not recorded | In 1 condition |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Not recorded | In 1 condition |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Not recorded | In 1 condition |
| PLA2G6phospholipase A2 group VI | Not recorded | In 1 condition |
| PMPCApeptidase, mitochondrial processing subunit alpha | Not recorded | In 1 condition |
| PNPpurine nucleoside phosphorylase | Not recorded | In 1 condition |
| POLR3ARNA polymerase III subunit A | Not recorded | In 1 condition |
| POMT2protein O-mannosyltransferase 2 | Not recorded | In 1 condition |
| PPT1palmitoyl-protein thioesterase 1 | Not recorded | In 1 condition |
| PRDX1peroxiredoxin 1 | Not recorded | In 1 condition |
| PRF1perforin 1 | Not recorded | In 1 condition |
| PRODHproline dehydrogenase 1 | Not recorded | In 1 condition |
| PTDSS1phosphatidylserine synthase 1 | Not recorded | In 1 condition |
| RETret proto-oncogene | Not recorded | In 1 condition |
| RETREG1reticulophagy regulator 1 | Not recorded | In 1 condition |
| RLIMring finger protein, LIM domain interacting | Not recorded | In 1 condition |
| RNASEH2Cribonuclease H2 subunit C | Not recorded | In 1 condition |
| RPS23ribosomal protein S23 | Not recorded | In 1 condition |
| SCN9Asodium voltage-gated channel alpha subunit 9 | Not recorded | In 1 condition |
| SERAC1serine active site containing 1 | Not recorded | In 1 condition |
| SETD2SET domain containing 2, histone lysine methyltransferase | Not recorded | In 1 condition |
| SGPL1sphingosine-1-phosphate lyase 1 | Not recorded | In 1 condition |
| SIX6SIX homeobox 6 | Not recorded | In 1 condition |
| SKISKI proto-oncogene | Not recorded | In 1 condition |
| SLC17A5solute carrier family 17 member 5 | Not recorded | In 2 conditions |
| SLC22A5solute carrier family 22 member 5 | Not recorded | In 1 condition |
| SLC25A20solute carrier family 25 member 20 | Not recorded | In 1 condition |
| SLC25A24solute carrier family 25 member 24 | Not recorded | In 1 condition |
| SLC25A42solute carrier family 25 member 42 | Not recorded | In 1 condition |
| SLC25A46solute carrier family 25 member 46 | Not recorded | In 1 condition |
| SLC2A10solute carrier family 2 member 10 | Not recorded | In 1 condition |
| SLC35A1solute carrier family 35 member A1 | Not recorded | In 1 condition |
| SLC35A3solute carrier family 35 member A3 | Not recorded | In 1 condition |
| SLC45A1solute carrier family 45 member 1 | Not recorded | In 1 condition |
| SLC46A1solute carrier family 46 member 1 | Not recorded | In 1 condition |
| SLC52A2solute carrier family 52 member 2 | Not recorded | In 1 condition |
| SLC9A6solute carrier family 9 member A6 | Not recorded | In 1 condition |
| SMN1survival of motor neuron 1, telomeric | Not recorded | In 1 condition |
| SMSspermine synthase | Not recorded | In 1 condition |
| SOX2SRY-box transcription factor 2 | Not recorded | In 1 condition |
| SOX5SRY-box transcription factor 5 | Not recorded | In 1 condition |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Not recorded | In 1 condition |
| STAMBPSTAM binding protein | Not recorded | In 1 condition |
| STRA6signaling receptor and transporter of retinol STRA6 | Not recorded | In 1 condition |
| STRADASTE20 related adaptor alpha | Not recorded | In 1 condition |
| SUOXsulfite oxidase | Not recorded | In 1 condition |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Not recorded | In 1 condition |
| TANGO2transport and golgi organization 2 homolog | Not recorded | In 1 condition |
| TBC1D23TBC1 domain family member 23 | Not recorded | In 1 condition |
| TBC1D24TBC1 domain family member 24 | Not recorded | In 1 condition |
| TBR1T-box brain transcription factor 1 | Not recorded | In 1 condition |
| TGFB1transforming growth factor beta 1 | Not recorded | In 1 condition |
| TLK2tousled like kinase 2 | Not recorded | In 1 condition |
| TMEM237transmembrane protein 237 | Not recorded | In 1 condition |
| TMEM67transmembrane protein 67 | Not recorded | In 1 condition |
| TMEM70transmembrane protein 70 | Not recorded | In 1 condition |
| TPI1triosephosphate isomerase 1 | Not recorded | In 1 condition |
| TRAPPC11trafficking protein particle complex subunit 11 | Not recorded | In 1 condition |
| TRIT1tRNA isopentenyltransferase 1 | Not recorded | In 1 condition |
| TRNT1tRNA nucleotidyl transferase 1 | Not recorded | In 1 condition |
| TRPS1transcriptional repressor GATA binding 1 | Not recorded | In 1 condition |
| TSFMTs translation elongation factor, mitochondrial | Not recorded | In 1 condition |
| TUBA1Atubulin alpha 1a | Not recorded | In 1 condition |
| TXN2thioredoxin 2 | Not recorded | In 1 condition |
| UBE3Aubiquitin protein ligase E3A | Not recorded | In 1 condition |
| UBE3Bubiquitin protein ligase E3B | Not recorded | In 1 condition |
| UBR1ubiquitin protein ligase E3 component n-recognin 1 | Not recorded | In 1 condition |
| UFM1ubiquitin fold modifier 1 | Not recorded | In 1 condition |
| UNC80unc-80 subunit of NALCN channel complex | Not recorded | In 1 condition |
| USP18ubiquitin specific peptidase 18 | Not recorded | In 1 condition |
| USP7ubiquitin specific peptidase 7 | Not recorded | In 1 condition |
| VDRvitamin D receptor | Not recorded | In 1 condition |
| VIPAS39VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog | Not recorded | In 1 condition |
| VLDLRvery low density lipoprotein receptor | Not recorded | In 1 condition |
| VPS33BVPS33B late endosome and lysosome associated | Not recorded | In 1 condition |
| WACWW domain containing adaptor with coiled-coil | Not recorded | In 1 condition |
| WASHC5WASH complex subunit 5 | Not recorded | In 1 condition |
| WNK1WNK lysine deficient protein kinase 1 | Not recorded | In 1 condition |
| WNK3WNK lysine deficient protein kinase 3 | Not recorded | In 1 condition |
| ZBTB18zinc finger and BTB domain containing 18 | Not recorded | In 1 condition |
| ZC4H2zinc finger C4H2-type containing | Not recorded | In 2 conditions |
| ZNHIT3zinc finger HIT-type containing 3 | 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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