Egenskap
Low muscle tone in trunk
Klinisk navn: Axial hypotonia
Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk.
Sammendrag
- Også kalt
- Muscular hypotonia of the trunk, Truncal hypotonia
- Kroppssystem
- Abnormality of the musculoskeletal system
ReferansegenomGRCh38hg38
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Endringer i disse genene forårsaker sjeldne tilstander der Low muscle tone in trunk forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| ACER3alkaline ceramidase 3 | Alltid | I 1 tilstand |
| ACTL6Bactin like 6B | Alltid | I 1 tilstand |
| ADCY5adenylate cyclase 5 | Alltid | I 4 tilstander |
| AIMP1aminoacyl tRNA synthetase complex interacting multifunctional protein 1 | Alltid | I 1 tilstand |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Alltid | I 1 tilstand |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Alltid | I 1 tilstand |
| ARFGEF1ARF guanine nucleotide exchange factor 1 | Alltid | I 1 tilstand |
| ARV1ARV1 fatty acid homeostasis modulator | Alltid | I 1 tilstand |
| ASH1LASH1 like histone lysine methyltransferase | Alltid | I 1 tilstand |
| BORCS8BLOC-1 related complex subunit 8 | Alltid | I 1 tilstand |
| BRAT1BRCA1 associated ATM activator 1 | Alltid | I 2 tilstander |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Alltid | I 1 tilstand |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Alltid | I 1 tilstand |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Alltid | I 1 tilstand |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Alltid | I 1 tilstand |
| CACNA2D2calcium voltage-gated channel auxiliary subunit alpha2delta 2 | Alltid | I 1 tilstand |
| CAMLGcalcium modulating ligand | Alltid | I 1 tilstand |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Alltid | I 1 tilstand |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Alltid | I 1 tilstand |
| COG4component of oligomeric golgi complex 4 | Alltid | I 2 tilstander |
| DDCdopa decarboxylase | Alltid | I 1 tilstand |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Alltid | I 2 tilstander |
| DHRSXdehydrogenase/reductase X-linked | Alltid | I 1 tilstand |
| DNM1Ldynamin 1L | Alltid | I 1 tilstand |
| EBPEBP cholestenol delta-isomerase | Alltid | I 1 tilstand |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Alltid | I 1 tilstand |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Alltid | I 1 tilstand |
| ELP2elongator acetyltransferase complex subunit 2 | Alltid | I 1 tilstand |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Alltid | I 2 tilstander |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Alltid | I 1 tilstand |
| FDXRferredoxin reductase | Alltid | I 2 tilstander |
| FEM1Bfem-1 homolog B | Alltid | I 1 tilstand |
| FZR1fizzy and cell division cycle 20 related 1 | Alltid | I 1 tilstand |
| GCSHglycine cleavage system protein H | Alltid | I 1 tilstand |
| GLSglutaminase | Alltid | I 1 tilstand |
| GLYCTKglycerate kinase | Alltid | I 1 tilstand |
| GOSR2golgi SNAP receptor complex member 2 | Alltid | I 1 tilstand |
| GPHNgephyrin | Alltid | I 1 tilstand |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Alltid | I 2 tilstander |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Alltid | I 1 tilstand |
Vis 324 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| GRM1glutamate metabotropic receptor 1 | Alltid | I 1 tilstand |
| GRM7glutamate metabotropic receptor 7 | Alltid | I 1 tilstand |
| GTF3C3general transcription factor IIIC subunit 3 | Alltid | I 1 tilstand |
| GTPBP1GTP binding protein 1 | Alltid | I 1 tilstand |
| GTPBP2GTP binding protein 2 | Alltid | I 1 tilstand |
| HMBShydroxymethylbilane synthase | Alltid | I 1 tilstand |
| HYCC1hyccin PI4KA lipid kinase complex subunit 1 | Alltid | I 1 tilstand |
| IREB2iron responsive element binding protein 2 | Alltid | I 1 tilstand |
| JKAMPJNK1/MAPK8 associated membrane protein | Alltid | I 1 tilstand |
| KDM6Blysine demethylase 6B | Alltid | I 1 tilstand |
| KIF1Akinesin family member 1A | Alltid | I 1 tilstand |
| LIPT2lipoyl(octanoyl) transferase 2 | Alltid | I 1 tilstand |
| LSM7LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated | Alltid | I 1 tilstand |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Alltid | I 1 tilstand |
| MECP2methyl-CpG binding protein 2 | Alltid | I 3 tilstander |
| MED16mediator complex subunit 16 | Alltid | I 1 tilstand |
| MED23mediator complex subunit 23 | Alltid | I 1 tilstand |
| MEGF10multiple EGF like domains 10 | Alltid | I 1 tilstand |
| MINPP1multiple inositol-polyphosphate phosphatase 1 | Alltid | I 1 tilstand |
| MKS1MKS transition zone complex subunit 1 | Alltid | I 1 tilstand |
| MPV17mitochondrial inner membrane protein MPV17 | Alltid | I 1 tilstand |
| MRPL12mitochondrial ribosomal protein L12 | Alltid | I 1 tilstand |
| MSL2MSL complex subunit 2 | Alltid | I 1 tilstand |
| NALCNsodium leak channel, non-selective | Alltid | I 1 tilstand |
| NAPBNSF attachment protein beta | Alltid | I 1 tilstand |
| NDUFA13NADH:ubiquinone oxidoreductase subunit A13 | Alltid | I 1 tilstand |
| NDUFV2NADH:ubiquinone oxidoreductase core subunit V2 | Alltid | I 1 tilstand |
| NECAP1NECAP endocytosis associated 1 | Alltid | I 1 tilstand |
| NFU1NFU1 iron-sulfur cluster scaffold | Alltid | I 1 tilstand |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Alltid | I 1 tilstand |
| NONOnon-POU domain containing octamer binding | Alltid | I 1 tilstand |
| NOTCH3notch receptor 3 | Alltid | I 1 tilstand |
| NRROSnegative regulator of reactive oxygen species | Alltid | I 1 tilstand |
| NSRP1nuclear speckle splicing regulatory protein 1 | Alltid | I 1 tilstand |
| NT5C25'-nucleotidase, cytosolic II | Alltid | I 1 tilstand |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Alltid | I 1 tilstand |
| PCDH12protocadherin 12 | Alltid | I 1 tilstand |
| PCLOpiccolo presynaptic cytomatrix protein | Alltid | I 1 tilstand |
| PEX14peroxisomal biogenesis factor 14 | Alltid | I 1 tilstand |
| PEX3peroxisomal biogenesis factor 3 | Alltid | I 1 tilstand |
| PGBD5piggyBac transposable element derived 5 | Alltid | I 1 tilstand |
| PI4K2Aphosphatidylinositol 4-kinase type 2 alpha | Alltid | I 1 tilstand |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Alltid | I 2 tilstander |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Alltid | I 1 tilstand |
| PLCB1phospholipase C beta 1 | Alltid | I 1 tilstand |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Alltid | I 2 tilstander |
| PRDM13PR/SET domain 13 | Alltid | I 1 tilstand |
| PSMC1proteasome 26S subunit, ATPase 1 | Alltid | I 1 tilstand |
| PTPN23protein tyrosine phosphatase non-receptor type 23 | Alltid | I 1 tilstand |
| PUM1pumilio RNA binding family member 1 | Alltid | I 1 tilstand |
| RAB18RAB18, member RAS oncogene family | Alltid | I 1 tilstand |
| RAP1GDS1Rap1 GTPase-GDP dissociation stimulator 1 | Alltid | I 1 tilstand |
| RNU2-2RNA, U2 small nuclear 2 | Alltid | I 1 tilstand |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Alltid | I 1 tilstand |
| SCO1synthesis of cytochrome C oxidase 1 | Alltid | I 1 tilstand |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Alltid | I 1 tilstand |
| SLC13A5solute carrier family 13 member 5 | Alltid | I 1 tilstand |
| SLC18A2solute carrier family 18 member A2 | Alltid | I 2 tilstander |
| SLC25A19solute carrier family 25 member 19 | Alltid | I 1 tilstand |
| SLC30A9solute carrier family 30 member 9 | Alltid | I 1 tilstand |
| SLC31A1solute carrier family 31 member 1 | Alltid | I 1 tilstand |
| SLC38A3solute carrier family 38 member 3 | Alltid | I 1 tilstand |
| SMC1Astructural maintenance of chromosomes 1A | Alltid | I 2 tilstander |
| SOD1superoxide dismutase 1 | Alltid | I 1 tilstand |
| SPOUT1SPOUT domain containing methyltransferase 1 | Alltid | I 1 tilstand |
| SPTSSAserine palmitoyltransferase small subunit A | Alltid | I 1 tilstand |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Alltid | I 1 tilstand |
| SUOXsulfite oxidase | Alltid | I 1 tilstand |
| TARS2threonyl-tRNA synthetase 2, mitochondrial | Alltid | I 1 tilstand |
| TBCEtubulin folding cofactor E | Alltid | I 1 tilstand |
| TM2D3TM2 domain containing 3 | Alltid | I 1 tilstand |
| TMTC3transmembrane O-mannosyltransferase targeting cadherins 3 | Alltid | I 1 tilstand |
| TRA2Btransformer 2 beta homolog | Alltid | I 1 tilstand |
| TRAPPC12trafficking protein particle complex subunit 12 | Alltid | I 2 tilstander |
| TSEN2tRNA splicing endonuclease subunit 2 | Alltid | I 2 tilstander |
| UBA5ubiquitin like modifier activating enzyme 5 | Alltid | I 1 tilstand |
| UBE3Bubiquitin protein ligase E3B | Alltid | I 1 tilstand |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Alltid | I 1 tilstand |
| UGP2UDP-glucose pyrophosphorylase 2 | Alltid | I 1 tilstand |
| UQCRQubiquinol-cytochrome c reductase complex III subunit VII | Alltid | I 1 tilstand |
| VAMP2vesicle associated membrane protein 2 | Alltid | I 1 tilstand |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Alltid | I 3 tilstander |
| ZNF526zinc finger protein 526 | Alltid | I 1 tilstand |
| ATAD3AATPase family AAA domain containing 3A | Svært ofte (80–99 %) | I 2 tilstander |
| CEP85Lcentrosomal protein 85L | Svært ofte (80–99 %) | I 1 tilstand |
| CTNNB1catenin beta 1 | Svært ofte (80–99 %) | I 1 tilstand |
| DARS1aspartyl-tRNA synthetase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| EMC1ER membrane protein complex subunit 1 | Svært ofte (80–99 %) | I 1 tilstand |
| GM2Aganglioside GM2 activator | Svært ofte (80–99 %) | I 2 tilstander |
| HEXBhexosaminidase subunit beta | Svært ofte (80–99 %) | I 1 tilstand |
| IFIH1interferon induced with helicase C domain 1 | Svært ofte (80–99 %) | I 2 tilstander |
| LMX1BLIM homeobox transcription factor 1 beta | Svært ofte (80–99 %) | I 1 tilstand |
| MACF1microtubule actin crosslinking factor 1 | Svært ofte (80–99 %) | I 1 tilstand |
| PAX7paired box 7 | Svært ofte (80–99 %) | I 1 tilstand |
| PRUNE1prune exopolyphosphatase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| RUSC2RUN and SH3 domain containing 2 | Svært ofte (80–99 %) | I 1 tilstand |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Svært ofte (80–99 %) | I 1 tilstand |
| SLC16A2solute carrier family 16 member 2 | Svært ofte (80–99 %) | I 1 tilstand |
| SLC4A10solute carrier family 4 member 10 | Svært ofte (80–99 %) | I 1 tilstand |
| SMG9SMG9 nonsense mediated mRNA decay factor | Svært ofte (80–99 %) | I 1 tilstand |
| STXBP1syntaxin binding protein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| TUBB3tubulin beta 3 class III | Svært ofte (80–99 %) | I 2 tilstander |
| AARS1alanyl-tRNA synthetase 1 | Ofte (30–79 %) | I 1 tilstand |
| ABCC8ATP binding cassette subfamily C member 8 | Ofte (30–79 %) | I 1 tilstand |
| ADARadenosine deaminase RNA specific | Ofte (30–79 %) | I 1 tilstand |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Ofte (30–79 %) | I 1 tilstand |
| ASNSasparagine synthetase (glutamine-hydrolyzing) | Ofte (30–79 %) | I 1 tilstand |
| ASXL1ASXL transcriptional regulator 1 | Ofte (30–79 %) | I 1 tilstand |
| ATG7autophagy related 7 | Ofte (30–79 %) | I 1 tilstand |
| B4GALT1beta-1,4-galactosyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| B9D1B9 domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| BCS1LBCS1 ubiquinol-cytochrome c reductase complex chaperone | Ofte (30–79 %) | I 1 tilstand |
| CAMTA1calmodulin binding transcription activator 1 | Ofte (30–79 %) | I 1 tilstand |
| CASKcalcium/calmodulin dependent serine protein kinase | Ofte (30–79 %) | I 2 tilstander |
| CDH2cadherin 2 | Ofte (30–79 %) | I 1 tilstand |
| CERT1ceramide transporter 1 | Ofte (30–79 %) | I 1 tilstand |
| CHP1calcineurin like EF-hand protein 1 | Ofte (30–79 %) | I 1 tilstand |
| CLCN6Cl-/H+ antiporter 6 | Ofte (30–79 %) | I 1 tilstand |
| CLDN11claudin 11 | Ofte (30–79 %) | I 1 tilstand |
| COG3component of oligomeric golgi complex 3 | Ofte (30–79 %) | I 1 tilstand |
| COQ8Acoenzyme Q8A | Ofte (30–79 %) | I 1 tilstand |
| DHPSdeoxyhypusine synthase | Ofte (30–79 %) | I 1 tilstand |
| DHX9DExH-box helicase 9 | Ofte (30–79 %) | I 1 tilstand |
| DOCK6dedicator of cytokinesis 6 | Ofte (30–79 %) | I 1 tilstand |
| EARS2glutamyl-tRNA synthetase 2, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| EBF3EBF transcription factor 3 | Ofte (30–79 %) | I 1 tilstand |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Ofte (30–79 %) | I 1 tilstand |
| EXOSC9exosome component 9 | Ofte (30–79 %) | I 1 tilstand |
| EXTL3exostosin like glycosyltransferase 3 | Ofte (30–79 %) | I 2 tilstander |
| FAR1fatty acyl-CoA reductase 1 | Ofte (30–79 %) | I 1 tilstand |
| FBXO28F-box protein 28 | Ofte (30–79 %) | I 1 tilstand |
| FGF12fibroblast growth factor 12 | Ofte (30–79 %) | I 1 tilstand |
| GAD1glutamate decarboxylase 1 | Ofte (30–79 %) | I 1 tilstand |
| GALCgalactosylceramidase | Ofte (30–79 %) | I 3 tilstander |
| GFERgrowth factor, augmenter of liver regeneration | Ofte (30–79 %) | I 1 tilstand |
| GFM1G elongation factor mitochondrial 1 | Ofte (30–79 %) | I 2 tilstander |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Ofte (30–79 %) | I 1 tilstand |
| GRIN2Bglutamate ionotropic receptor NMDA type subunit 2B | Ofte (30–79 %) | I 1 tilstand |
| GUF1GTP binding elongation factor GUF1 | Ofte (30–79 %) | I 1 tilstand |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Ofte (30–79 %) | I 1 tilstand |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Ofte (30–79 %) | I 1 tilstand |
| KARS1lysyl-tRNA synthetase 1 | Ofte (30–79 %) | I 1 tilstand |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Ofte (30–79 %) | I 1 tilstand |
| KCNMA1potassium calcium-activated channel subfamily M alpha 1 | Ofte (30–79 %) | I 1 tilstand |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Ofte (30–79 %) | I 1 tilstand |
| KIDINS220kinase D interacting substrate 220 | Ofte (30–79 %) | I 1 tilstand |
| KLHL20kelch like family member 20 | Ofte (30–79 %) | I 1 tilstand |
| LGI1leucine rich glioma inactivated 1 | Ofte (30–79 %) | I 1 tilstand |
| LRRC32leucine rich repeat containing 32 | Ofte (30–79 %) | I 1 tilstand |
| LRRC7leucine rich repeat containing 7 | Ofte (30–79 %) | I 1 tilstand |
| LSM11LSM11, U7 small nuclear RNA associated | Ofte (30–79 %) | I 1 tilstand |
| LYRM7LYR motif containing 7 | Ofte (30–79 %) | I 1 tilstand |
| MED11mediator complex subunit 11 | Ofte (30–79 %) | I 1 tilstand |
| MFFmitochondrial fission factor | Ofte (30–79 %) | I 1 tilstand |
| MICOS13mitochondrial contact site and cristae organizing system subunit 13 | Ofte (30–79 %) | I 1 tilstand |
| MMACHCmetabolism of cobalamin associated C | Ofte (30–79 %) | I 1 tilstand |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Ofte (30–79 %) | I 1 tilstand |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Ofte (30–79 %) | I 1 tilstand |
| NDUFC2NADH:ubiquinone oxidoreductase subunit C2 | Ofte (30–79 %) | I 1 tilstand |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Ofte (30–79 %) | I 1 tilstand |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Ofte (30–79 %) | I 1 tilstand |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Ofte (30–79 %) | I 1 tilstand |
| NEUROD2neuronal differentiation 2 | Ofte (30–79 %) | I 1 tilstand |
| NFIXnuclear factor I X | Ofte (30–79 %) | I 1 tilstand |
| OPA1OPA1 mitochondrial dynamin like GTPase | Ofte (30–79 %) | I 1 tilstand |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Ofte (30–79 %) | I 1 tilstand |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Ofte (30–79 %) | I 2 tilstander |
| PDE10Aphosphodiesterase 10A | Ofte (30–79 %) | I 2 tilstander |
| PDE2Aphosphodiesterase 2A | Ofte (30–79 %) | I 1 tilstand |
| PDP1pyruvate dehydrogenase phosphatase catalytic subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Ofte (30–79 %) | I 1 tilstand |
| PLA2G6phospholipase A2 group VI | Ofte (30–79 %) | I 1 tilstand |
| PLP1proteolipid protein 1 | Ofte (30–79 %) | I 1 tilstand |
| PMM2phosphomannomutase 2 | Ofte (30–79 %) | I 1 tilstand |
| PNPOpyridoxamine 5'-phosphate oxidase | Ofte (30–79 %) | I 2 tilstander |
| POGZpogo transposable element derived with ZNF domain | Ofte (30–79 %) | I 1 tilstand |
| PRDX1peroxiredoxin 1 | Ofte (30–79 %) | I 1 tilstand |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Ofte (30–79 %) | I 2 tilstander |
| PRR12proline rich 12 | Ofte (30–79 %) | I 1 tilstand |
| PSAPprosaposin | Ofte (30–79 %) | I 1 tilstand |
| PSAT1phosphoserine aminotransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| PTBP1polypyrimidine tract binding protein 1 | Ofte (30–79 %) | I 1 tilstand |
| RARS1arginyl-tRNA synthetase 1 | Ofte (30–79 %) | I 2 tilstander |
| RARS2arginyl-tRNA synthetase 2, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| REPS1RALBP1 associated Eps domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| RNASEH2Aribonuclease H2 subunit A | Ofte (30–79 %) | I 1 tilstand |
| RNASEH2Bribonuclease H2 subunit B | Ofte (30–79 %) | I 1 tilstand |
| RNASEH2Cribonuclease H2 subunit C | Ofte (30–79 %) | I 1 tilstand |
| RNU12RNA, U12 small nuclear | Ofte (30–79 %) | I 1 tilstand |
| RNU7-1RNA, U7 small nuclear 1 | Ofte (30–79 %) | I 2 tilstander |
| ROBO3roundabout guidance receptor 3 | Ofte (30–79 %) | I 1 tilstand |
| RYR1ryanodine receptor 1 | Ofte (30–79 %) | I 1 tilstand |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Ofte (30–79 %) | I 2 tilstander |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| SLC1A2solute carrier family 1 member 2 | Ofte (30–79 %) | I 1 tilstand |
| SLC25A12solute carrier family 25 member 12 | Ofte (30–79 %) | I 1 tilstand |
| SLC35A2solute carrier family 35 member A2 | Ofte (30–79 %) | I 1 tilstand |
| SLC35B2solute carrier family 35 member B2 | Ofte (30–79 %) | I 1 tilstand |
| SLC39A14solute carrier family 39 member 14 | Ofte (30–79 %) | I 2 tilstander |
| SLC6A3solute carrier family 6 member 3 | Ofte (30–79 %) | I 2 tilstander |
| SLC6A8solute carrier family 6 member 8 | Ofte (30–79 %) | I 1 tilstand |
| SPEGstriated muscle enriched protein kinase | Ofte (30–79 %) | I 1 tilstand |
| SPRsepiapterin reductase | Ofte (30–79 %) | I 2 tilstander |
| TEFMtranscription elongation factor, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| TNRtenascin R | Ofte (30–79 %) | I 1 tilstand |
| TREX1three prime repair exonuclease 1 | Ofte (30–79 %) | I 2 tilstander |
| TUBGCP2tubulin gamma complex component 2 | Ofte (30–79 %) | I 1 tilstand |
| UGDHUDP-glucose 6-dehydrogenase | Ofte (30–79 %) | I 1 tilstand |
| WDR45BWD repeat domain 45B | Ofte (30–79 %) | I 1 tilstand |
| WDR73WD repeat domain 73 | Ofte (30–79 %) | I 1 tilstand |
| WWOXWW domain containing oxidoreductase | Ofte (30–79 %) | I 1 tilstand |
| YIF1BYip1 interacting factor homolog B, membrane trafficking protein | Ofte (30–79 %) | I 1 tilstand |
| ACSF3acyl-CoA synthetase family member 3 | Noen ganger (5–29 %) | I 1 tilstand |
| ADARB1adenosine deaminase RNA specific B1 | Noen ganger (5–29 %) | I 1 tilstand |
| AFG2AAAA ATPase AFG2A | Noen ganger (5–29 %) | I 1 tilstand |
| ALG11ALG11 alpha-1,2-mannosyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| AMFRautocrine motility factor receptor | Noen ganger (5–29 %) | I 1 tilstand |
| AMPD2adenosine monophosphate deaminase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CAMK2Acalcium/calmodulin dependent protein kinase II alpha | Noen ganger (5–29 %) | I 1 tilstand |
| CAMK2Bcalcium/calmodulin dependent protein kinase II beta | Noen ganger (5–29 %) | I 1 tilstand |
| CDONcell adhesion associated, oncogene regulated | Noen ganger (5–29 %) | I 4 tilstander |
| CHMP1Acharged multivesicular body protein 1A | Noen ganger (5–29 %) | I 1 tilstand |
| CRELD1CRELD disulfide isomerase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CRIPTOcripto, EGF-CFC family member | Noen ganger (5–29 %) | I 4 tilstander |
| DDX6DEAD-box helicase 6 | Noen ganger (5–29 %) | I 1 tilstand |
| DISP1dispatched RND transporter family member 1 | Noen ganger (5–29 %) | I 4 tilstander |
| DLL1delta like canonical Notch ligand 1 | Noen ganger (5–29 %) | I 4 tilstander |
| DNAJC12DnaJ heat shock protein family (Hsp40) member C12 | Noen ganger (5–29 %) | I 1 tilstand |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| EIF2AK2eukaryotic translation initiation factor 2 alpha kinase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Noen ganger (5–29 %) | I 1 tilstand |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Noen ganger (5–29 %) | I 1 tilstand |
| FGF8fibroblast growth factor 8 | Noen ganger (5–29 %) | I 4 tilstander |
| FGFR1fibroblast growth factor receptor 1 | Noen ganger (5–29 %) | I 2 tilstander |
| FOXH1forkhead box H1 | Noen ganger (5–29 %) | I 4 tilstander |
| FOXP2forkhead box P2 | Noen ganger (5–29 %) | I 1 tilstand |
| FTH1ferritin heavy chain 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GAS1growth arrest specific 1 | Noen ganger (5–29 %) | I 4 tilstander |
| GDI1GDP dissociation inhibitor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GLI2GLI family zinc finger 2 | Noen ganger (5–29 %) | I 4 tilstander |
| GNB1G protein subunit beta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Noen ganger (5–29 %) | I 2 tilstander |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Noen ganger (5–29 %) | I 1 tilstand |
| GRIK2glutamate ionotropic receptor kainate type subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Noen ganger (5–29 %) | I 1 tilstand |
| H4C5H4 clustered histone 5 | Noen ganger (5–29 %) | I 1 tilstand |
| HIKESHIheat shock protein nuclear import factor hikeshi | Noen ganger (5–29 %) | I 1 tilstand |
| HK1hexokinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| INSRinsulin receptor | Noen ganger (5–29 %) | I 1 tilstand |
| KAT6Alysine acetyltransferase 6A | Noen ganger (5–29 %) | I 1 tilstand |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNQ3potassium voltage-gated channel subfamily Q member 3 | Noen ganger (5–29 %) | I 1 tilstand |
| LGI3leucine rich repeat LGI family member 3 | Noen ganger (5–29 %) | I 1 tilstand |
| LMNB1lamin B1 | Noen ganger (5–29 %) | I 1 tilstand |
| MAN2B1mannosidase alpha class 2B member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NAXDNAD(P)HX dehydratase | Noen ganger (5–29 %) | I 1 tilstand |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Noen ganger (5–29 %) | I 1 tilstand |
| NEXMIFneurite extension and migration factor | Noen ganger (5–29 %) | I 1 tilstand |
| NODALnodal growth differentiation factor | Noen ganger (5–29 %) | I 4 tilstander |
| NSMCE3NSE3 component of SMC5/6 complex | Noen ganger (5–29 %) | I 1 tilstand |
| PCBD1pterin-4 alpha-carbinolamine dehydratase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PDHXpyruvate dehydrogenase complex component X | Noen ganger (5–29 %) | I 1 tilstand |
| PLCH1phospholipase C eta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Noen ganger (5–29 %) | I 1 tilstand |
| PTCH1patched 1 | Noen ganger (5–29 %) | I 4 tilstander |
| RTTNrotatin | Noen ganger (5–29 %) | I 1 tilstand |
| SATB1SATB homeobox 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | Noen ganger (5–29 %) | I 1 tilstand |
| SETSET nuclear proto-oncogene | Noen ganger (5–29 %) | I 1 tilstand |
| SHHsonic hedgehog signaling molecule | Noen ganger (5–29 %) | I 4 tilstander |
| SIX3SIX homeobox 3 | Noen ganger (5–29 %) | I 4 tilstander |
| SOX4SRY-box transcription factor 4 | Noen ganger (5–29 %) | I 1 tilstand |
| STAG2STAG2 cohesin complex component | Noen ganger (5–29 %) | I 2 tilstander |
| STILSTIL centriolar assembly protein | Noen ganger (5–29 %) | I 4 tilstander |
| TBC1D2BTBC1 domain family member 2B | Noen ganger (5–29 %) | I 1 tilstand |
| TGIF1TGFB induced factor homeobox 1 | Noen ganger (5–29 %) | I 4 tilstander |
| TIAM1TIAM Rac1 associated GEF 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TRMT10AtRNA methyltransferase 10A | Noen ganger (5–29 %) | I 1 tilstand |
| TSEN15tRNA splicing endonuclease subunit 15 | Noen ganger (5–29 %) | I 1 tilstand |
| TSEN34tRNA splicing endonuclease subunit 34 | Noen ganger (5–29 %) | I 1 tilstand |
| TSEN54tRNA splicing endonuclease subunit 54 | Noen ganger (5–29 %) | I 1 tilstand |
| VPS41VPS41 subunit of HOPS complex | Noen ganger (5–29 %) | I 1 tilstand |
| ZIC2Zic family zinc finger 2 | Noen ganger (5–29 %) | I 4 tilstander |
| ZNF142zinc finger protein 142 | Noen ganger (5–29 %) | I 1 tilstand |
| ZSWIM6zinc finger SWIM-type containing 6 | Noen ganger (5–29 %) | I 1 tilstand |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Sjelden (1–4%) | I 1 tilstand |
| GJA5gap junction protein alpha 5 | Sjelden (1–4%) | I 1 tilstand |
| GJA8gap junction protein alpha 8 | Sjelden (1–4%) | I 1 tilstand |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Ikke registrert | I 1 tilstand |
| ALG6ALG6 alpha-1,3-glucosyltransferase | Ikke registrert | I 1 tilstand |
| AP4S1adaptor related protein complex 4 subunit sigma 1 | Ikke registrert | I 1 tilstand |
| ARXaristaless related homeobox | Ikke registrert | I 1 tilstand |
| DCXdoublecortin | Ikke registrert | I 1 tilstand |
| DENND5ADENN domain containing 5A | Ikke registrert | I 1 tilstand |
| EXOSC3exosome component 3 | Ikke registrert | I 1 tilstand |
| GJC2gap junction protein gamma 2 | Ikke registrert | I 1 tilstand |
| HTThuntingtin | Ikke registrert | I 1 tilstand |
| IER3IP1immediate early response 3 interacting protein 1 | Ikke registrert | I 1 tilstand |
| LIPT1lipoyltransferase 1 | Ikke registrert | I 1 tilstand |
| MBOAT7membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7 | Ikke registrert | I 1 tilstand |
| MDH1malate dehydrogenase 1 | Ikke registrert | I 1 tilstand |
| MRPS22mitochondrial ribosomal protein S22 | Ikke registrert | I 1 tilstand |
| NSUN2NOP2/Sun RNA methyltransferase 2 | Ikke registrert | I 1 tilstand |
| OCLNoccludin | Ikke registrert | I 1 tilstand |
| PAM16presequence translocase associated motor 16 | Ikke registrert | I 1 tilstand |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Ikke registrert | I 1 tilstand |
| PCCApropionyl-CoA carboxylase subunit alpha | Ikke registrert | I 1 tilstand |
| PCCBpropionyl-CoA carboxylase subunit beta | Ikke registrert | I 1 tilstand |
| PCGF2polycomb group ring finger 2 | Ikke registrert | I 1 tilstand |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Ikke registrert | I 1 tilstand |
| PIK3R2phosphoinositide-3-kinase regulatory subunit 2 | Ikke registrert | I 1 tilstand |
| PTS6-pyruvoyltetrahydropterin synthase | Ikke registrert | I 1 tilstand |
| PYCR2pyrroline-5-carboxylate reductase 2 | Ikke registrert | I 1 tilstand |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Ikke registrert | I 1 tilstand |
| SLC19A3solute carrier family 19 member 3 | Ikke registrert | I 1 tilstand |
| SLC6A9solute carrier family 6 member 9 | Ikke registrert | I 1 tilstand |
| SOX10SRY-box transcription factor 10 | Ikke registrert | I 1 tilstand |
| THtyrosine hydroxylase | Ikke registrert | I 1 tilstand |
| TRNT1tRNA nucleotidyl transferase 1 | Ikke registrert | I 1 tilstand |
| TUBB4Atubulin beta 4A class IVa | Ikke registrert | I 1 tilstand |
| VPS11VPS11 core subunit of CORVET and HOPS complexes | Ikke registrert | I 1 tilstand |
| VPS13Dvacuolar protein sorting 13 homolog D | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
Bredere egenskaper
Slik er informasjonen samlet
- Human Phenotype Ontology, versjon 2026-09-01: egenskapen, navnene på den, definisjonen og genene som er knyttet til den. Les mer på hpo.jax.org.
- Datautgave 2026.10.16-c6eea6bf.
Én test. En livstid med svar.
Fra 449 $Gratis frakt · Resultater på 6–8 uker