Who We HelpOur ScienceProductsOutcomes
Log InAskGet Startedfrom $449
Trait
Low muscle tone in trunk
Clinical name: Axial hypotonia
Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk.
Summary
- Also called
- Muscular hypotonia of the trunk, Truncal hypotonia
- Body system
- Abnormality of the musculoskeletal system
Who We HelpOur ScienceProductsOutcomes
Log InAskGet Startedfrom $449
This page as data
Add .json to the page's address, or ask for application/json, to read it as JSON.
library(jsonlite)
url <- "https://dantelabs.com/traits/axial-hypotonia.json"
page <- fromJSON(url)
page$trait$nameLow muscle tone in trunkHP:0008936
Who We HelpOur ScienceProductsOutcomes
Log InAskGet Startedfrom $449
Read the genes linked to Low muscle tone in trunk, and the rest of your genome, with one test.
From $449Free shipping · Results in 6–8 weeks
Get my Genome Test364 genes linked to Low muscle tone in trunk
Changes in these genes cause rare conditions in which Low muscle tone in trunk 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 |
|---|---|---|
| ACER3alkaline ceramidase 3 | Always | In 1 condition |
| ACTL6Bactin like 6B | Always | In 1 condition |
| ADCY5adenylate cyclase 5 | Always | In 4 conditions |
| AIMP1aminoacyl tRNA synthetase complex interacting multifunctional protein 1 | Always | In 1 condition |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Always | In 1 condition |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Always | In 1 condition |
| ARFGEF1ARF guanine nucleotide exchange factor 1 | Always | In 1 condition |
| ARV1ARV1 fatty acid homeostasis modulator | Always | In 1 condition |
| ASH1LASH1 like histone lysine methyltransferase | Always | In 1 condition |
| BORCS8BLOC-1 related complex subunit 8 | Always | In 1 condition |
| BRAT1BRCA1 associated ATM activator 1 | Always | In 2 conditions |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Always | In 1 condition |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Always | In 1 condition |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Always | In 1 condition |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Always | In 1 condition |
| CACNA2D2calcium voltage-gated channel auxiliary subunit alpha2delta 2 | Always | In 1 condition |
| CAMLGcalcium modulating ligand | Always | In 1 condition |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Always | In 1 condition |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Always | In 1 condition |
| COG4component of oligomeric golgi complex 4 | Always | In 2 conditions |
| DDCdopa decarboxylase | Always | In 1 condition |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Always | In 2 conditions |
| DHRSXdehydrogenase/reductase X-linked | Always | In 1 condition |
| DNM1Ldynamin 1L | Always | In 1 condition |
| EBPEBP cholestenol delta-isomerase | Always | In 1 condition |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Always | In 1 condition |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Always | In 1 condition |
| ELP2elongator acetyltransferase complex subunit 2 | Always | In 1 condition |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Always | In 2 conditions |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Always | In 1 condition |
| FDXRferredoxin reductase | Always | In 2 conditions |
| FEM1Bfem-1 homolog B | Always | In 1 condition |
| FZR1fizzy and cell division cycle 20 related 1 | Always | In 1 condition |
| GCSHglycine cleavage system protein H | Always | In 1 condition |
| GLSglutaminase | Always | In 1 condition |
| GLYCTKglycerate kinase | Always | In 1 condition |
| GOSR2golgi SNAP receptor complex member 2 | Always | In 1 condition |
| GPHNgephyrin | Always | In 1 condition |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Always | In 2 conditions |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Always | In 1 condition |
Show 324 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| GRM1glutamate metabotropic receptor 1 | Always | In 1 condition |
| GRM7glutamate metabotropic receptor 7 | Always | In 1 condition |
| GTF3C3general transcription factor IIIC subunit 3 | Always | In 1 condition |
| GTPBP1GTP binding protein 1 | Always | In 1 condition |
| GTPBP2GTP binding protein 2 | Always | In 1 condition |
| HMBShydroxymethylbilane synthase | Always | In 1 condition |
| HYCC1hyccin PI4KA lipid kinase complex subunit 1 | Always | In 1 condition |
| IREB2iron responsive element binding protein 2 | Always | In 1 condition |
| JKAMPJNK1/MAPK8 associated membrane protein | Always | In 1 condition |
| KDM6Blysine demethylase 6B | Always | In 1 condition |
| KIF1Akinesin family member 1A | Always | In 1 condition |
| LIPT2lipoyl(octanoyl) transferase 2 | Always | In 1 condition |
| LSM7LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated | Always | In 1 condition |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Always | In 1 condition |
| MECP2methyl-CpG binding protein 2 | Always | In 3 conditions |
| MED16mediator complex subunit 16 | Always | In 1 condition |
| MED23mediator complex subunit 23 | Always | In 1 condition |
| MEGF10multiple EGF like domains 10 | Always | In 1 condition |
| MINPP1multiple inositol-polyphosphate phosphatase 1 | Always | In 1 condition |
| MKS1MKS transition zone complex subunit 1 | Always | In 1 condition |
| MPV17mitochondrial inner membrane protein MPV17 | Always | In 1 condition |
| MRPL12mitochondrial ribosomal protein L12 | Always | In 1 condition |
| MSL2MSL complex subunit 2 | Always | In 1 condition |
| NALCNsodium leak channel, non-selective | Always | In 1 condition |
| NAPBNSF attachment protein beta | Always | In 1 condition |
| NDUFA13NADH:ubiquinone oxidoreductase subunit A13 | Always | In 1 condition |
| NDUFV2NADH:ubiquinone oxidoreductase core subunit V2 | Always | In 1 condition |
| NECAP1NECAP endocytosis associated 1 | Always | In 1 condition |
| NFU1NFU1 iron-sulfur cluster scaffold | Always | In 1 condition |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Always | In 1 condition |
| NONOnon-POU domain containing octamer binding | Always | In 1 condition |
| NOTCH3notch receptor 3 | Always | In 1 condition |
| NRROSnegative regulator of reactive oxygen species | Always | In 1 condition |
| NSRP1nuclear speckle splicing regulatory protein 1 | Always | In 1 condition |
| NT5C25'-nucleotidase, cytosolic II | Always | In 1 condition |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Always | In 1 condition |
| PCDH12protocadherin 12 | Always | In 1 condition |
| PCLOpiccolo presynaptic cytomatrix protein | Always | In 1 condition |
| PEX14peroxisomal biogenesis factor 14 | Always | In 1 condition |
| PEX3peroxisomal biogenesis factor 3 | Always | In 1 condition |
| PGBD5piggyBac transposable element derived 5 | Always | In 1 condition |
| PI4K2Aphosphatidylinositol 4-kinase type 2 alpha | Always | In 1 condition |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Always | In 2 conditions |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Always | In 1 condition |
| PLCB1phospholipase C beta 1 | Always | In 1 condition |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Always | In 2 conditions |
| PRDM13PR/SET domain 13 | Always | In 1 condition |
| PSMC1proteasome 26S subunit, ATPase 1 | Always | In 1 condition |
| PTPN23protein tyrosine phosphatase non-receptor type 23 | Always | In 1 condition |
| PUM1pumilio RNA binding family member 1 | Always | In 1 condition |
| RAB18RAB18, member RAS oncogene family | Always | In 1 condition |
| RAP1GDS1Rap1 GTPase-GDP dissociation stimulator 1 | Always | In 1 condition |
| RNU2-2RNA, U2 small nuclear 2 | Always | In 1 condition |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Always | In 1 condition |
| SCO1synthesis of cytochrome C oxidase 1 | Always | In 1 condition |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Always | In 1 condition |
| SLC13A5solute carrier family 13 member 5 | Always | In 1 condition |
| SLC18A2solute carrier family 18 member A2 | Always | In 2 conditions |
| SLC25A19solute carrier family 25 member 19 | Always | In 1 condition |
| SLC30A9solute carrier family 30 member 9 | Always | In 1 condition |
| SLC31A1solute carrier family 31 member 1 | Always | In 1 condition |
| SLC38A3solute carrier family 38 member 3 | Always | In 1 condition |
| SMC1Astructural maintenance of chromosomes 1A | Always | In 2 conditions |
| SOD1superoxide dismutase 1 | Always | In 1 condition |
| SPOUT1SPOUT domain containing methyltransferase 1 | Always | In 1 condition |
| SPTSSAserine palmitoyltransferase small subunit A | Always | In 1 condition |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Always | In 1 condition |
| SUOXsulfite oxidase | Always | In 1 condition |
| TARS2threonyl-tRNA synthetase 2, mitochondrial | Always | In 1 condition |
| TBCEtubulin folding cofactor E | Always | In 1 condition |
| TM2D3TM2 domain containing 3 | Always | In 1 condition |
| TMTC3transmembrane O-mannosyltransferase targeting cadherins 3 | Always | In 1 condition |
| TRA2Btransformer 2 beta homolog | Always | In 1 condition |
| TRAPPC12trafficking protein particle complex subunit 12 | Always | In 2 conditions |
| TSEN2tRNA splicing endonuclease subunit 2 | Always | In 2 conditions |
| UBA5ubiquitin like modifier activating enzyme 5 | Always | In 1 condition |
| UBE3Bubiquitin protein ligase E3B | Always | In 1 condition |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Always | In 1 condition |
| UGP2UDP-glucose pyrophosphorylase 2 | Always | In 1 condition |
| UQCRQubiquinol-cytochrome c reductase complex III subunit VII | Always | In 1 condition |
| VAMP2vesicle associated membrane protein 2 | Always | In 1 condition |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Always | In 3 conditions |
| ZNF526zinc finger protein 526 | Always | In 1 condition |
| ATAD3AATPase family AAA domain containing 3A | Very often (80–99%) | In 2 conditions |
| CEP85Lcentrosomal protein 85L | Very often (80–99%) | In 1 condition |
| CTNNB1catenin beta 1 | Very often (80–99%) | In 1 condition |
| DARS1aspartyl-tRNA synthetase 1 | Very often (80–99%) | In 1 condition |
| EMC1ER membrane protein complex subunit 1 | Very often (80–99%) | In 1 condition |
| GM2Aganglioside GM2 activator | Very often (80–99%) | In 2 conditions |
| HEXBhexosaminidase subunit beta | Very often (80–99%) | In 1 condition |
| IFIH1interferon induced with helicase C domain 1 | Very often (80–99%) | In 2 conditions |
| LMX1BLIM homeobox transcription factor 1 beta | Very often (80–99%) | In 1 condition |
| MACF1microtubule actin crosslinking factor 1 | Very often (80–99%) | In 1 condition |
| PAX7paired box 7 | Very often (80–99%) | In 1 condition |
| PRUNE1prune exopolyphosphatase 1 | Very often (80–99%) | In 1 condition |
| RUSC2RUN and SH3 domain containing 2 | Very often (80–99%) | In 1 condition |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Very often (80–99%) | In 1 condition |
| SLC16A2solute carrier family 16 member 2 | Very often (80–99%) | In 1 condition |
| SLC4A10solute carrier family 4 member 10 | Very often (80–99%) | In 1 condition |
| SMG9SMG9 nonsense mediated mRNA decay factor | Very often (80–99%) | In 1 condition |
| STXBP1syntaxin binding protein 1 | Very often (80–99%) | In 1 condition |
| TUBB3tubulin beta 3 class III | Very often (80–99%) | In 2 conditions |
| AARS1alanyl-tRNA synthetase 1 | Often (30–79%) | In 1 condition |
| ABCC8ATP binding cassette subfamily C member 8 | Often (30–79%) | In 1 condition |
| ADARadenosine deaminase RNA specific | Often (30–79%) | In 1 condition |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Often (30–79%) | In 1 condition |
| ASNSasparagine synthetase (glutamine-hydrolyzing) | Often (30–79%) | In 1 condition |
| ASXL1ASXL transcriptional regulator 1 | Often (30–79%) | In 1 condition |
| ATG7autophagy related 7 | Often (30–79%) | In 1 condition |
| B4GALT1beta-1,4-galactosyltransferase 1 | Often (30–79%) | In 1 condition |
| B9D1B9 domain containing 1 | Often (30–79%) | In 1 condition |
| BCS1LBCS1 ubiquinol-cytochrome c reductase complex chaperone | Often (30–79%) | In 1 condition |
| CAMTA1calmodulin binding transcription activator 1 | Often (30–79%) | In 1 condition |
| CASKcalcium/calmodulin dependent serine protein kinase | Often (30–79%) | In 2 conditions |
| CDH2cadherin 2 | Often (30–79%) | In 1 condition |
| CERT1ceramide transporter 1 | Often (30–79%) | In 1 condition |
| CHP1calcineurin like EF-hand protein 1 | Often (30–79%) | In 1 condition |
| CLCN6Cl-/H+ antiporter 6 | Often (30–79%) | In 1 condition |
| CLDN11claudin 11 | Often (30–79%) | In 1 condition |
| COG3component of oligomeric golgi complex 3 | Often (30–79%) | In 1 condition |
| COQ8Acoenzyme Q8A | Often (30–79%) | In 1 condition |
| DHPSdeoxyhypusine synthase | Often (30–79%) | In 1 condition |
| DHX9DExH-box helicase 9 | Often (30–79%) | In 1 condition |
| DOCK6dedicator of cytokinesis 6 | Often (30–79%) | In 1 condition |
| EARS2glutamyl-tRNA synthetase 2, mitochondrial | Often (30–79%) | In 1 condition |
| EBF3EBF transcription factor 3 | Often (30–79%) | In 1 condition |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Often (30–79%) | In 1 condition |
| EXOSC9exosome component 9 | Often (30–79%) | In 1 condition |
| EXTL3exostosin like glycosyltransferase 3 | Often (30–79%) | In 2 conditions |
| FAR1fatty acyl-CoA reductase 1 | 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 |
| GAD1glutamate decarboxylase 1 | Often (30–79%) | In 1 condition |
| GALCgalactosylceramidase | Often (30–79%) | In 3 conditions |
| GFERgrowth factor, augmenter of liver regeneration | Often (30–79%) | In 1 condition |
| GFM1G elongation factor mitochondrial 1 | Often (30–79%) | In 2 conditions |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Often (30–79%) | In 1 condition |
| GRIN2Bglutamate ionotropic receptor NMDA type subunit 2B | Often (30–79%) | In 1 condition |
| GUF1GTP binding elongation factor GUF1 | Often (30–79%) | In 1 condition |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Often (30–79%) | In 1 condition |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Often (30–79%) | In 1 condition |
| KARS1lysyl-tRNA synthetase 1 | Often (30–79%) | In 1 condition |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Often (30–79%) | In 1 condition |
| KCNMA1potassium calcium-activated channel subfamily M alpha 1 | Often (30–79%) | In 1 condition |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Often (30–79%) | In 1 condition |
| KIDINS220kinase D interacting substrate 220 | Often (30–79%) | In 1 condition |
| KLHL20kelch like family member 20 | Often (30–79%) | In 1 condition |
| LGI1leucine rich glioma inactivated 1 | Often (30–79%) | In 1 condition |
| LRRC32leucine rich repeat containing 32 | Often (30–79%) | In 1 condition |
| LRRC7leucine rich repeat containing 7 | Often (30–79%) | In 1 condition |
| LSM11LSM11, U7 small nuclear RNA associated | Often (30–79%) | In 1 condition |
| LYRM7LYR motif containing 7 | Often (30–79%) | In 1 condition |
| MED11mediator complex subunit 11 | Often (30–79%) | In 1 condition |
| MFFmitochondrial fission factor | Often (30–79%) | In 1 condition |
| MICOS13mitochondrial contact site and cristae organizing system subunit 13 | Often (30–79%) | In 1 condition |
| MMACHCmetabolism of cobalamin associated C | Often (30–79%) | In 1 condition |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Often (30–79%) | In 1 condition |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Often (30–79%) | In 1 condition |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Often (30–79%) | In 1 condition |
| NDUFC2NADH:ubiquinone oxidoreductase subunit C2 | Often (30–79%) | In 1 condition |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Often (30–79%) | In 1 condition |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Often (30–79%) | In 1 condition |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Often (30–79%) | In 1 condition |
| NEUROD2neuronal differentiation 2 | Often (30–79%) | In 1 condition |
| NFIXnuclear factor I X | Often (30–79%) | In 1 condition |
| OPA1OPA1 mitochondrial dynamin like GTPase | Often (30–79%) | In 1 condition |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Often (30–79%) | In 1 condition |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Often (30–79%) | In 2 conditions |
| PDE10Aphosphodiesterase 10A | Often (30–79%) | In 2 conditions |
| PDE2Aphosphodiesterase 2A | Often (30–79%) | In 1 condition |
| PDP1pyruvate dehydrogenase phosphatase catalytic subunit 1 | Often (30–79%) | In 1 condition |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Often (30–79%) | In 1 condition |
| PLA2G6phospholipase A2 group VI | Often (30–79%) | In 1 condition |
| PLP1proteolipid protein 1 | Often (30–79%) | In 1 condition |
| PMM2phosphomannomutase 2 | Often (30–79%) | In 1 condition |
| PNPOpyridoxamine 5'-phosphate oxidase | Often (30–79%) | In 2 conditions |
| POGZpogo transposable element derived with ZNF domain | Often (30–79%) | In 1 condition |
| PRDX1peroxiredoxin 1 | Often (30–79%) | In 1 condition |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Often (30–79%) | In 2 conditions |
| PRR12proline rich 12 | Often (30–79%) | In 1 condition |
| PSAPprosaposin | Often (30–79%) | In 1 condition |
| PSAT1phosphoserine aminotransferase 1 | Often (30–79%) | In 1 condition |
| PTBP1polypyrimidine tract binding protein 1 | Often (30–79%) | In 1 condition |
| RARS1arginyl-tRNA synthetase 1 | Often (30–79%) | In 2 conditions |
| RARS2arginyl-tRNA synthetase 2, mitochondrial | Often (30–79%) | In 1 condition |
| REPS1RALBP1 associated Eps domain containing 1 | Often (30–79%) | In 1 condition |
| RNASEH2Aribonuclease H2 subunit A | Often (30–79%) | In 1 condition |
| RNASEH2Bribonuclease H2 subunit B | Often (30–79%) | In 1 condition |
| RNASEH2Cribonuclease H2 subunit C | Often (30–79%) | In 1 condition |
| RNU12RNA, U12 small nuclear | Often (30–79%) | In 1 condition |
| RNU7-1RNA, U7 small nuclear 1 | Often (30–79%) | In 2 conditions |
| ROBO3roundabout guidance receptor 3 | Often (30–79%) | In 1 condition |
| RYR1ryanodine receptor 1 | Often (30–79%) | In 1 condition |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Often (30–79%) | In 2 conditions |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Often (30–79%) | In 1 condition |
| SLC1A2solute carrier family 1 member 2 | Often (30–79%) | In 1 condition |
| SLC25A12solute carrier family 25 member 12 | Often (30–79%) | In 1 condition |
| SLC35A2solute carrier family 35 member A2 | Often (30–79%) | In 1 condition |
| SLC35B2solute carrier family 35 member B2 | Often (30–79%) | In 1 condition |
| SLC39A14solute carrier family 39 member 14 | Often (30–79%) | In 2 conditions |
| SLC6A3solute carrier family 6 member 3 | Often (30–79%) | In 2 conditions |
| SLC6A8solute carrier family 6 member 8 | Often (30–79%) | In 1 condition |
| SPEGstriated muscle enriched protein kinase | Often (30–79%) | In 1 condition |
| SPRsepiapterin reductase | Often (30–79%) | In 2 conditions |
| TEFMtranscription elongation factor, mitochondrial | Often (30–79%) | In 1 condition |
| TNRtenascin R | Often (30–79%) | In 1 condition |
| TREX1three prime repair exonuclease 1 | Often (30–79%) | In 2 conditions |
| TUBGCP2tubulin gamma complex component 2 | Often (30–79%) | In 1 condition |
| UGDHUDP-glucose 6-dehydrogenase | Often (30–79%) | In 1 condition |
| WDR45BWD repeat domain 45B | Often (30–79%) | In 1 condition |
| WDR73WD repeat domain 73 | Often (30–79%) | In 1 condition |
| WWOXWW domain containing oxidoreductase | Often (30–79%) | In 1 condition |
| YIF1BYip1 interacting factor homolog B, membrane trafficking protein | Often (30–79%) | In 1 condition |
| ACSF3acyl-CoA synthetase family member 3 | Sometimes (5–29%) | In 1 condition |
| ADARB1adenosine deaminase RNA specific B1 | Sometimes (5–29%) | In 1 condition |
| AFG2AAAA ATPase AFG2A | Sometimes (5–29%) | In 1 condition |
| ALG11ALG11 alpha-1,2-mannosyltransferase | Sometimes (5–29%) | In 1 condition |
| AMFRautocrine motility factor receptor | Sometimes (5–29%) | In 1 condition |
| AMPD2adenosine monophosphate deaminase 2 | Sometimes (5–29%) | In 1 condition |
| CAMK2Acalcium/calmodulin dependent protein kinase II alpha | Sometimes (5–29%) | In 1 condition |
| CAMK2Bcalcium/calmodulin dependent protein kinase II beta | Sometimes (5–29%) | In 1 condition |
| CDONcell adhesion associated, oncogene regulated | Sometimes (5–29%) | In 4 conditions |
| CHMP1Acharged multivesicular body protein 1A | Sometimes (5–29%) | In 1 condition |
| CRELD1CRELD disulfide isomerase 1 | Sometimes (5–29%) | In 1 condition |
| CRIPTOcripto, EGF-CFC family member | Sometimes (5–29%) | In 4 conditions |
| DDX6DEAD-box helicase 6 | Sometimes (5–29%) | In 1 condition |
| DISP1dispatched RND transporter family member 1 | Sometimes (5–29%) | In 4 conditions |
| DLL1delta like canonical Notch ligand 1 | Sometimes (5–29%) | In 4 conditions |
| DNAJC12DnaJ heat shock protein family (Hsp40) member C12 | Sometimes (5–29%) | In 1 condition |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Sometimes (5–29%) | In 1 condition |
| EIF2AK2eukaryotic translation initiation factor 2 alpha kinase 2 | Sometimes (5–29%) | In 1 condition |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Sometimes (5–29%) | In 1 condition |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Sometimes (5–29%) | In 1 condition |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Sometimes (5–29%) | In 1 condition |
| FGF8fibroblast growth factor 8 | Sometimes (5–29%) | In 4 conditions |
| FGFR1fibroblast growth factor receptor 1 | Sometimes (5–29%) | In 2 conditions |
| FOXH1forkhead box H1 | Sometimes (5–29%) | In 4 conditions |
| FOXP2forkhead box P2 | Sometimes (5–29%) | In 1 condition |
| FTH1ferritin heavy chain 1 | Sometimes (5–29%) | In 1 condition |
| GAS1growth arrest specific 1 | Sometimes (5–29%) | In 4 conditions |
| GDI1GDP dissociation inhibitor 1 | Sometimes (5–29%) | In 1 condition |
| GLI2GLI family zinc finger 2 | Sometimes (5–29%) | In 4 conditions |
| GNB1G protein subunit beta 1 | Sometimes (5–29%) | In 1 condition |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Sometimes (5–29%) | In 2 conditions |
| 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 |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Sometimes (5–29%) | In 1 condition |
| H4C5H4 clustered histone 5 | Sometimes (5–29%) | In 1 condition |
| HIKESHIheat shock protein nuclear import factor hikeshi | Sometimes (5–29%) | In 1 condition |
| HK1hexokinase 1 | Sometimes (5–29%) | In 1 condition |
| INSRinsulin receptor | Sometimes (5–29%) | In 1 condition |
| KAT6Alysine acetyltransferase 6A | Sometimes (5–29%) | In 1 condition |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Sometimes (5–29%) | In 1 condition |
| KCNQ3potassium voltage-gated channel subfamily Q member 3 | Sometimes (5–29%) | In 1 condition |
| LGI3leucine rich repeat LGI family member 3 | Sometimes (5–29%) | In 1 condition |
| LMNB1lamin B1 | Sometimes (5–29%) | In 1 condition |
| MAN2B1mannosidase alpha class 2B member 1 | Sometimes (5–29%) | In 1 condition |
| NAXDNAD(P)HX dehydratase | Sometimes (5–29%) | In 1 condition |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Sometimes (5–29%) | In 1 condition |
| NEXMIFneurite extension and migration factor | Sometimes (5–29%) | In 1 condition |
| NODALnodal growth differentiation factor | Sometimes (5–29%) | In 4 conditions |
| NSMCE3NSE3 component of SMC5/6 complex | Sometimes (5–29%) | In 1 condition |
| PCBD1pterin-4 alpha-carbinolamine dehydratase 1 | Sometimes (5–29%) | In 1 condition |
| PDHXpyruvate dehydrogenase complex component X | Sometimes (5–29%) | In 1 condition |
| PLCH1phospholipase C eta 1 | Sometimes (5–29%) | In 1 condition |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Sometimes (5–29%) | In 1 condition |
| PTCH1patched 1 | Sometimes (5–29%) | In 4 conditions |
| RTTNrotatin | Sometimes (5–29%) | In 1 condition |
| SATB1SATB homeobox 1 | Sometimes (5–29%) | In 1 condition |
| SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | Sometimes (5–29%) | In 1 condition |
| SETSET nuclear proto-oncogene | Sometimes (5–29%) | In 1 condition |
| SHHsonic hedgehog signaling molecule | Sometimes (5–29%) | In 4 conditions |
| SIX3SIX homeobox 3 | Sometimes (5–29%) | In 4 conditions |
| SOX4SRY-box transcription factor 4 | Sometimes (5–29%) | In 1 condition |
| STAG2STAG2 cohesin complex component | Sometimes (5–29%) | In 2 conditions |
| STILSTIL centriolar assembly protein | Sometimes (5–29%) | In 4 conditions |
| TBC1D2BTBC1 domain family member 2B | Sometimes (5–29%) | In 1 condition |
| TGIF1TGFB induced factor homeobox 1 | Sometimes (5–29%) | In 4 conditions |
| TIAM1TIAM Rac1 associated GEF 1 | Sometimes (5–29%) | In 1 condition |
| TRMT10AtRNA methyltransferase 10A | Sometimes (5–29%) | In 1 condition |
| TSEN15tRNA splicing endonuclease subunit 15 | Sometimes (5–29%) | In 1 condition |
| TSEN34tRNA splicing endonuclease subunit 34 | Sometimes (5–29%) | In 1 condition |
| TSEN54tRNA splicing endonuclease subunit 54 | Sometimes (5–29%) | In 1 condition |
| VPS41VPS41 subunit of HOPS complex | Sometimes (5–29%) | In 1 condition |
| ZIC2Zic family zinc finger 2 | Sometimes (5–29%) | In 4 conditions |
| ZNF142zinc finger protein 142 | Sometimes (5–29%) | In 1 condition |
| ZSWIM6zinc finger SWIM-type containing 6 | Sometimes (5–29%) | In 1 condition |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Rarely (1–4%) | In 1 condition |
| GJA5gap junction protein alpha 5 | Rarely (1–4%) | In 1 condition |
| GJA8gap junction protein alpha 8 | Rarely (1–4%) | In 1 condition |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Not recorded | In 1 condition |
| ALG6ALG6 alpha-1,3-glucosyltransferase | Not recorded | In 1 condition |
| AP4S1adaptor related protein complex 4 subunit sigma 1 | Not recorded | In 1 condition |
| ARXaristaless related homeobox | Not recorded | In 1 condition |
| DCXdoublecortin | Not recorded | In 1 condition |
| DENND5ADENN domain containing 5A | Not recorded | In 1 condition |
| EXOSC3exosome component 3 | Not recorded | In 1 condition |
| GJC2gap junction protein gamma 2 | Not recorded | In 1 condition |
| HTThuntingtin | Not recorded | In 1 condition |
| IER3IP1immediate early response 3 interacting protein 1 | Not recorded | In 1 condition |
| LIPT1lipoyltransferase 1 | Not recorded | In 1 condition |
| MBOAT7membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7 | Not recorded | In 1 condition |
| MDH1malate dehydrogenase 1 | Not recorded | In 1 condition |
| MRPS22mitochondrial ribosomal protein S22 | Not recorded | In 1 condition |
| NSUN2NOP2/Sun RNA methyltransferase 2 | Not recorded | In 1 condition |
| OCLNoccludin | Not recorded | In 1 condition |
| PAM16presequence translocase associated motor 16 | Not recorded | In 1 condition |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Not recorded | In 1 condition |
| PCCApropionyl-CoA carboxylase subunit alpha | Not recorded | In 1 condition |
| PCCBpropionyl-CoA carboxylase subunit beta | Not recorded | In 1 condition |
| PCGF2polycomb group ring finger 2 | Not recorded | In 1 condition |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Not recorded | In 1 condition |
| PIK3R2phosphoinositide-3-kinase regulatory subunit 2 | Not recorded | In 1 condition |
| PTS6-pyruvoyltetrahydropterin synthase | Not recorded | In 1 condition |
| PYCR2pyrroline-5-carboxylate reductase 2 | Not recorded | In 1 condition |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Not recorded | In 1 condition |
| SLC19A3solute carrier family 19 member 3 | Not recorded | In 1 condition |
| SLC6A9solute carrier family 6 member 9 | Not recorded | In 1 condition |
| SOX10SRY-box transcription factor 10 | Not recorded | In 1 condition |
| THtyrosine hydroxylase | Not recorded | In 1 condition |
| TRNT1tRNA nucleotidyl transferase 1 | Not recorded | In 1 condition |
| TUBB4Atubulin beta 4A class IVa | Not recorded | In 1 condition |
| VPS11VPS11 core subunit of CORVET and HOPS complexes | Not recorded | In 1 condition |
| VPS13Dvacuolar protein sorting 13 homolog D | 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.
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.
Who We HelpOur ScienceProductsOutcomes
Log InAskGet Startedfrom $449
One test. A lifetime of answers.
From $449Free shipping · Results in 6–8 weeks