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Egenskap
Generalized decreased muscle tone
Klinisk navn: Generalized hypotonia
Generalized muscular hypotonia (abnormally low muscle tone).
Sammendrag
- Også kalt
- Generalised decreased muscle tone, Generalised hypotonia, Generalised muscular hypotonia, Generalized muscular hypotonia, Hypotonia, generalised, Hypotonia, generalized
- Kroppssystem
- Abnormality of the musculoskeletal system
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Denne siden som data
Legg til .json etter adressen til siden, eller be om application/json, for å lese den som JSON.
library(jsonlite)
url <- "https://dantelabs.com/traits/generalized-hypotonia.json"
page <- fromJSON(url)
page$trait$nameGeneralized decreased muscle toneHP:0001290
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Les genene knyttet til Generalized decreased muscle tone, og resten av genomet ditt, med én test.
Fra 449 $Gratis frakt · Resultater på 6–8 uker
Få mitt Genome Test695 gener knyttet til Generalized decreased muscle tone
Endringer i disse genene forårsaker sjeldne tilstander der Generalized decreased muscle tone 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 |
|---|---|---|
| ABCC8ATP binding cassette subfamily C member 8 | Alltid | I 1 tilstand |
| ACTA1actin alpha 1, skeletal muscle | Alltid | I 3 tilstander |
| ACY1aminoacylase 1 | Alltid | I 1 tilstand |
| ADAM22ADAM metallopeptidase domain 22 | Alltid | I 1 tilstand |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Alltid | I 2 tilstander |
| AP2M1adaptor related protein complex 2 subunit mu 1 | Alltid | I 1 tilstand |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Alltid | I 1 tilstand |
| ARL13BARF like GTPase 13B | Alltid | I 1 tilstand |
| BCORBCL6 corepressor | Alltid | I 1 tilstand |
| CACNA2D2calcium voltage-gated channel auxiliary subunit alpha2delta 2 | Alltid | I 1 tilstand |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Alltid | I 1 tilstand |
| CHKBcholine kinase beta | Alltid | I 1 tilstand |
| CNOT2CCR4-NOT transcription complex subunit 2 | Alltid | I 1 tilstand |
| COG7component of oligomeric golgi complex 7 | Alltid | I 1 tilstand |
| COL1A1collagen type I alpha 1 chain | Alltid | I 2 tilstander |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Alltid | I 2 tilstander |
| COX15cytochrome c oxidase assembly factor COX15 | Alltid | I 1 tilstand |
| COX18cytochrome c oxidase assembly factor COX18 | Alltid | I 1 tilstand |
| COX4I1cytochrome c oxidase subunit 4I1 | Alltid | I 1 tilstand |
| COX6A2cytochrome c oxidase subunit 6A2 | Alltid | I 1 tilstand |
| COX6B1cytochrome c oxidase subunit 6B1 | Alltid | I 2 tilstander |
| DAG1dystroglycan 1 | Alltid | I 1 tilstand |
| DALRD3DALR anticodon binding domain containing 3 | Alltid | I 2 tilstander |
| DNM2dynamin 2 | Alltid | I 3 tilstander |
| DSTdystonin | Alltid | I 2 tilstander |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Alltid | I 1 tilstand |
| EBF3EBF transcription factor 3 | Alltid | I 1 tilstand |
| ECHS1enoyl-CoA hydratase, short chain 1 | Alltid | I 1 tilstand |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Alltid | I 1 tilstand |
| EN1engrailed homeobox 1 | Alltid | I 1 tilstand |
| ERI1exoribonuclease 1 | Alltid | I 1 tilstand |
| EXOSC5exosome component 5 | Alltid | I 1 tilstand |
| EXOSC9exosome component 9 | Alltid | I 1 tilstand |
| FAM177A1family with sequence similarity 177 member A1 | Alltid | I 1 tilstand |
| FARSAphenylalanyl-tRNA synthetase subunit alpha | Alltid | I 1 tilstand |
| FASTKD2FASTK mitochondrial RNA regulator 2 | Alltid | I 2 tilstander |
| FDXRferredoxin reductase | Alltid | I 1 tilstand |
| FOXG1forkhead box G1 | Alltid | I 2 tilstander |
| FOXP1forkhead box P1 | Alltid | I 1 tilstand |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Alltid | I 2 tilstander |
Vis 655 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| GALTgalactose-1-phosphate uridylyltransferase | Alltid | I 1 tilstand |
| GARS1glycyl-tRNA synthetase 1 | Alltid | I 1 tilstand |
| GCH1GTP cyclohydrolase 1 | Alltid | I 1 tilstand |
| GLB1galactosidase beta 1 | Alltid | I 1 tilstand |
| GLULglutamate-ammonia ligase | Alltid | I 1 tilstand |
| GMPPAGDP-mannose pyrophosphorylase A | Alltid | I 1 tilstand |
| GPHNgephyrin | Alltid | I 1 tilstand |
| GTPBP2GTP binding protein 2 | Alltid | I 1 tilstand |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Alltid | I 1 tilstand |
| IFT81intraflagellar transport 81 | Alltid | I 1 tilstand |
| INPP5Einositol polyphosphate-5-phosphatase E | Alltid | I 1 tilstand |
| IQSEC1IQ motif and Sec7 domain ArfGEF 1 | Alltid | I 1 tilstand |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Alltid | I 3 tilstander |
| JKAMPJNK1/MAPK8 associated membrane protein | Alltid | I 1 tilstand |
| KCNMA1potassium calcium-activated channel subfamily M alpha 1 | Alltid | I 2 tilstander |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Alltid | I 2 tilstander |
| LMOD3leiomodin 3 | Alltid | I 1 tilstand |
| LONP1lon peptidase 1, mitochondrial | Alltid | I 1 tilstand |
| LRRC32leucine rich repeat containing 32 | Alltid | I 1 tilstand |
| LRRC7leucine rich repeat containing 7 | Alltid | I 1 tilstand |
| LYRM7LYR motif containing 7 | Alltid | I 1 tilstand |
| MARS2methionyl-tRNA synthetase 2, mitochondrial | Alltid | I 1 tilstand |
| MKS1MKS transition zone complex subunit 1 | Alltid | I 1 tilstand |
| MOCS3molybdenum cofactor synthesis 3 | Alltid | I 1 tilstand |
| MOGSmannosyl-oligosaccharide glucosidase | Alltid | I 1 tilstand |
| MPV17mitochondrial inner membrane protein MPV17 | Alltid | I 1 tilstand |
| MRPS14mitochondrial ribosomal protein S14 | Alltid | I 1 tilstand |
| MRPS22mitochondrial ribosomal protein S22 | Alltid | I 1 tilstand |
| MRPS28mitochondrial ribosomal protein S28 | Alltid | I 1 tilstand |
| MSL2MSL complex subunit 2 | Alltid | I 1 tilstand |
| MT-TNmitochondrially encoded tRNA-Asn (AAU/C) | Alltid | I 1 tilstand |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Alltid | I 1 tilstand |
| MTMR14myotubularin related protein 14 | Alltid | I 2 tilstander |
| MYH2myosin heavy chain 2 | Alltid | I 1 tilstand |
| MYL2myosin light chain 2 | Alltid | I 1 tilstand |
| MYOD1myogenic differentiation 1 | Alltid | I 1 tilstand |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Alltid | I 2 tilstander |
| NAV3neuron navigator 3 | Alltid | I 1 tilstand |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Alltid | I 1 tilstand |
| NDUFB8NADH:ubiquinone oxidoreductase subunit B8 | Alltid | I 1 tilstand |
| NECAP1NECAP endocytosis associated 1 | Alltid | I 2 tilstander |
| NRASNRAS proto-oncogene, GTPase | Alltid | I 1 tilstand |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Alltid | I 2 tilstander |
| ODC1ornithine decarboxylase 1 | Alltid | I 1 tilstand |
| OTX2orthodenticle homeobox 2 | Alltid | I 1 tilstand |
| PDE6Dphosphodiesterase 6D | Alltid | I 2 tilstander |
| PDHBpyruvate dehydrogenase E1 subunit beta | Alltid | I 1 tilstand |
| PEX14peroxisomal biogenesis factor 14 | Alltid | I 1 tilstand |
| PEX6peroxisomal biogenesis factor 6 | Alltid | I 2 tilstander |
| PIGKphosphatidylinositol glycan anchor biosynthesis class K | Alltid | I 1 tilstand |
| PIGSphosphatidylinositol glycan anchor biosynthesis class S | Alltid | I 1 tilstand |
| PLEKHG2pleckstrin homology and RhoGEF domain containing G2 | Alltid | I 1 tilstand |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Alltid | I 1 tilstand |
| PRDM13PR/SET domain 13 | Alltid | I 1 tilstand |
| RARS2arginyl-tRNA synthetase 2, mitochondrial | Alltid | I 1 tilstand |
| RFC4replication factor C subunit 4 | Alltid | I 1 tilstand |
| RNU2-2RNA, U2 small nuclear 2 | Alltid | I 1 tilstand |
| RPGRIP1LRPGRIP1 like | Alltid | I 2 tilstander |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Alltid | I 1 tilstand |
| SCO1synthesis of cytochrome C oxidase 1 | Alltid | I 2 tilstander |
| SCO2synthesis of cytochrome C oxidase 2 | Alltid | I 1 tilstand |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Alltid | I 2 tilstander |
| SERPINH1serpin family H member 1 | Alltid | I 1 tilstand |
| SLC12A2solute carrier family 12 member 2 | Alltid | I 2 tilstander |
| SLC25A10solute carrier family 25 member 10 | Alltid | I 1 tilstand |
| SMC1Astructural maintenance of chromosomes 1A | Alltid | I 1 tilstand |
| SPTBN4spectrin beta, non-erythrocytic 4 | Alltid | I 1 tilstand |
| SSR4signal sequence receptor subunit 4 | Alltid | I 2 tilstander |
| STT3ASTT3 oligosaccharyltransferase complex catalytic subunit A | Alltid | I 1 tilstand |
| STT3BSTT3 oligosaccharyltransferase complex catalytic subunit B | Alltid | I 1 tilstand |
| SURF1SURF1 cytochrome c oxidase assembly factor | Alltid | I 1 tilstand |
| TACO1translational activator of cytochrome c oxidase I | Alltid | I 1 tilstand |
| TASP1taspase 1 | Alltid | I 1 tilstand |
| TBCKTBC1 domain containing kinase | Alltid | I 1 tilstand |
| TK2thymidine kinase 2 | Alltid | I 1 tilstand |
| TMEM63Btransmembrane protein 63B | Alltid | I 1 tilstand |
| TOR1Atorsin family 1 member A | Alltid | I 2 tilstander |
| TRA2Btransformer 2 beta homolog | Alltid | I 1 tilstand |
| VPS51VPS51 subunit of GARP complex | Alltid | I 1 tilstand |
| WSB2WD repeat and SOCS box containing 2 | Alltid | I 1 tilstand |
| YIF1BYip1 interacting factor homolog B, membrane trafficking protein | Alltid | I 1 tilstand |
| ADSLadenylosuccinate lyase | Svært ofte (80–99 %) | I 2 tilstander |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Svært ofte (80–99 %) | I 1 tilstand |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Svært ofte (80–99 %) | I 1 tilstand |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Svært ofte (80–99 %) | I 1 tilstand |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Svært ofte (80–99 %) | I 2 tilstander |
| CHD1chromodomain helicase DNA binding protein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| CHST3carbohydrate sulfotransferase 3 | Svært ofte (80–99 %) | I 1 tilstand |
| CPLX1complexin 1 | Svært ofte (80–99 %) | I 1 tilstand |
| CTBP1C-terminal binding protein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| DDOSTdolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit | Svært ofte (80–99 %) | I 1 tilstand |
| DLDdihydrolipoamide dehydrogenase | Svært ofte (80–99 %) | I 1 tilstand |
| FGFRL1fibroblast growth factor receptor like 1 | Svært ofte (80–99 %) | I 1 tilstand |
| GANgigaxonin | Svært ofte (80–99 %) | I 1 tilstand |
| GNB1G protein subunit beta 1 | Svært ofte (80–99 %) | I 1 tilstand |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Svært ofte (80–99 %) | I 1 tilstand |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Svært ofte (80–99 %) | I 2 tilstander |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Svært ofte (80–99 %) | I 1 tilstand |
| KIF7kinesin family member 7 | Svært ofte (80–99 %) | I 2 tilstander |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| MAGEL2MAGE family member L2 | Svært ofte (80–99 %) | I 1 tilstand |
| MAMLD1mastermind like domain containing 1 | Svært ofte (80–99 %) | I 1 tilstand |
| MBOAT7membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7 | Svært ofte (80–99 %) | I 1 tilstand |
| MKRN3makorin ring finger protein 3 | Svært ofte (80–99 %) | I 1 tilstand |
| MN1MN1 proto-oncogene, transcriptional regulator | Svært ofte (80–99 %) | I 1 tilstand |
| MSL3MSL complex subunit 3 | Svært ofte (80–99 %) | I 1 tilstand |
| MT-TEmitochondrially encoded tRNA-Glu (GAA/G) | Svært ofte (80–99 %) | I 1 tilstand |
| MTM1myotubularin 1 | Svært ofte (80–99 %) | I 1 tilstand |
| MTX2metaxin 2 | Svært ofte (80–99 %) | I 1 tilstand |
| MYO5Amyosin VA | Svært ofte (80–99 %) | I 1 tilstand |
| NPAP1nuclear pore associated protein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| NSD2nuclear receptor binding SET domain protein 2 | Svært ofte (80–99 %) | I 1 tilstand |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Svært ofte (80–99 %) | I 1 tilstand |
| POLR2ARNA polymerase II subunit A | Svært ofte (80–99 %) | I 1 tilstand |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Svært ofte (80–99 %) | I 2 tilstander |
| PWAR1Prader Willi/Angelman region RNA 1 | Svært ofte (80–99 %) | I 1 tilstand |
| PWRN1Prader-Willi region non-protein coding RNA 1 | Svært ofte (80–99 %) | I 1 tilstand |
| RMND1required for meiotic nuclear division 1 homolog | Svært ofte (80–99 %) | I 1 tilstand |
| RMP64ribonuclease MRP subunit p64 | Svært ofte (80–99 %) | I 1 tilstand |
| RYR1ryanodine receptor 1 | Svært ofte (80–99 %) | I 4 tilstander |
| SELENONselenoprotein N | Svært ofte (80–99 %) | I 3 tilstander |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Svært ofte (80–99 %) | I 1 tilstand |
| SLC18A2solute carrier family 18 member A2 | Svært ofte (80–99 %) | I 1 tilstand |
| SNORD115-1small nucleolar RNA, C/D box 115-1 | Svært ofte (80–99 %) | I 1 tilstand |
| SNORD116-1small nucleolar RNA, C/D box 116-1 | Svært ofte (80–99 %) | I 1 tilstand |
| TAF1TATA-box binding protein associated factor 1 | Svært ofte (80–99 %) | I 2 tilstander |
| TRMUtRNA mitochondrial 2-thiouridylase | Svært ofte (80–99 %) | I 2 tilstander |
| WASF1WASP family member 1 | Svært ofte (80–99 %) | I 1 tilstand |
| AARS1alanyl-tRNA synthetase 1 | Ofte (30–79 %) | I 2 tilstander |
| ACAD9acyl-CoA dehydrogenase family member 9 | Ofte (30–79 %) | I 2 tilstander |
| ACTL6Bactin like 6B | Ofte (30–79 %) | I 1 tilstand |
| ALDH5A1aldehyde dehydrogenase 5 family member A1 | Ofte (30–79 %) | I 1 tilstand |
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Ofte (30–79 %) | I 1 tilstand |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Ofte (30–79 %) | I 1 tilstand |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Ofte (30–79 %) | I 2 tilstander |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Ofte (30–79 %) | I 2 tilstander |
| ARSAarylsulfatase A | Ofte (30–79 %) | I 4 tilstander |
| ATCAYATCAY kinesin light chain interacting caytaxin | Ofte (30–79 %) | I 1 tilstand |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Ofte (30–79 %) | I 1 tilstand |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Ofte (30–79 %) | I 2 tilstander |
| ATP6V1AATPase H+ transporting V1 subunit A | Ofte (30–79 %) | I 1 tilstand |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Ofte (30–79 %) | I 1 tilstand |
| ATXN2ataxin 2 | Ofte (30–79 %) | I 2 tilstander |
| AUTS2activator of transcription and developmental regulator AUTS2 | Ofte (30–79 %) | I 2 tilstander |
| B4GALT7beta-1,4-galactosyltransferase 7 | Ofte (30–79 %) | I 1 tilstand |
| BCL11ABCL11 transcription factor A | Ofte (30–79 %) | I 1 tilstand |
| BIN1bridging integrator 1 | Ofte (30–79 %) | I 2 tilstander |
| BMP1bone morphogenetic protein 1 | Ofte (30–79 %) | I 1 tilstand |
| BORCS8BLOC-1 related complex subunit 8 | Ofte (30–79 %) | I 1 tilstand |
| BPTFbromodomain PHD finger transcription factor | Ofte (30–79 %) | I 1 tilstand |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Ofte (30–79 %) | I 2 tilstander |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Ofte (30–79 %) | I 1 tilstand |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Ofte (30–79 %) | I 1 tilstand |
| CDK19cyclin dependent kinase 19 | Ofte (30–79 %) | I 1 tilstand |
| CDKL5cyclin dependent kinase like 5 | Ofte (30–79 %) | I 1 tilstand |
| CDONcell adhesion associated, oncogene regulated | Ofte (30–79 %) | I 1 tilstand |
| CELF2CUGBP Elav-like family member 2 | Ofte (30–79 %) | I 1 tilstand |
| CEP104centrosomal protein 104 | Ofte (30–79 %) | I 1 tilstand |
| CHD8chromodomain helicase DNA binding protein 8 | Ofte (30–79 %) | I 1 tilstand |
| CLCN6Cl-/H+ antiporter 6 | Ofte (30–79 %) | I 1 tilstand |
| CLCN7Cl-/H+ antiporter 7 | Ofte (30–79 %) | I 1 tilstand |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| CLTCclathrin heavy chain | Ofte (30–79 %) | I 1 tilstand |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Ofte (30–79 %) | I 1 tilstand |
| COA8cytochrome c oxidase assembly factor 8 | Ofte (30–79 %) | I 1 tilstand |
| COG6component of oligomeric golgi complex 6 | Ofte (30–79 %) | I 1 tilstand |
| COL12A1collagen type XII alpha 1 chain | Ofte (30–79 %) | I 2 tilstander |
| COL13A1collagen type XIII alpha 1 chain | Ofte (30–79 %) | I 1 tilstand |
| COL1A2collagen type I alpha 2 chain | Ofte (30–79 %) | I 2 tilstander |
| COL6A1collagen type VI alpha 1 chain | Ofte (30–79 %) | I 1 tilstand |
| COL6A2collagen type VI alpha 2 chain | Ofte (30–79 %) | I 1 tilstand |
| COL6A3collagen type VI alpha 3 chain | Ofte (30–79 %) | I 1 tilstand |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Ofte (30–79 %) | I 2 tilstander |
| CRIPTOcripto, EGF-CFC family member | Ofte (30–79 %) | I 1 tilstand |
| CRPPACDP-L-ribitol pyrophosphorylase A | Ofte (30–79 %) | I 2 tilstander |
| CSNK2Bcasein kinase 2 beta | Ofte (30–79 %) | I 1 tilstand |
| CSPP1centrosome and spindle pole associated protein 1 | Ofte (30–79 %) | I 1 tilstand |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Ofte (30–79 %) | I 2 tilstander |
| CYP11B2cytochrome P450 family 11 subfamily B member 2 | Ofte (30–79 %) | I 1 tilstand |
| CYP27B1cytochrome P450 family 27 subfamily B member 1 | Ofte (30–79 %) | I 2 tilstander |
| CYP2R1cytochrome P450 family 2 subfamily R member 1 | Ofte (30–79 %) | I 2 tilstander |
| DDX3XDEAD-box helicase 3 X-linked | Ofte (30–79 %) | I 1 tilstand |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Ofte (30–79 %) | I 1 tilstand |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Ofte (30–79 %) | I 2 tilstander |
| DHX16DEAH-box helicase 16 | Ofte (30–79 %) | I 1 tilstand |
| DISP1dispatched RND transporter family member 1 | Ofte (30–79 %) | I 1 tilstand |
| DLL1delta like canonical Notch ligand 1 | Ofte (30–79 %) | I 1 tilstand |
| DNA2DNA replication helicase/nuclease 2 | Ofte (30–79 %) | I 1 tilstand |
| DNM1dynamin 1 | Ofte (30–79 %) | I 3 tilstander |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Ofte (30–79 %) | I 2 tilstander |
| DPM2dolichyl-phosphate mannosyltransferase subunit 2, regulatory | Ofte (30–79 %) | I 2 tilstander |
| EBPEBP cholestenol delta-isomerase | Ofte (30–79 %) | I 1 tilstand |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Ofte (30–79 %) | I 1 tilstand |
| ETHE1ETHE1 persulfide dioxygenase | Ofte (30–79 %) | I 1 tilstand |
| FAM149B1family with sequence similarity 149 member B1 | Ofte (30–79 %) | I 1 tilstand |
| FBXO22F-box protein 22 | 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 |
| FGF8fibroblast growth factor 8 | Ofte (30–79 %) | I 1 tilstand |
| FKRPfukutin related protein | Ofte (30–79 %) | I 2 tilstander |
| FKTNfukutin | Ofte (30–79 %) | I 2 tilstander |
| FLVCR1FLVCR choline and heme transporter 1 | Ofte (30–79 %) | I 1 tilstand |
| FMN2formin 2 | Ofte (30–79 %) | I 1 tilstand |
| FOXH1forkhead box H1 | Ofte (30–79 %) | I 1 tilstand |
| FZR1fizzy and cell division cycle 20 related 1 | Ofte (30–79 %) | I 1 tilstand |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Ofte (30–79 %) | I 2 tilstander |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Ofte (30–79 %) | I 2 tilstander |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Ofte (30–79 %) | I 1 tilstand |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Ofte (30–79 %) | I 1 tilstand |
| GAS1growth arrest specific 1 | Ofte (30–79 %) | I 1 tilstand |
| GFPT1glutamine--fructose-6-phosphate transaminase 1 | Ofte (30–79 %) | I 2 tilstander |
| GLI2GLI family zinc finger 2 | Ofte (30–79 %) | I 1 tilstand |
| GMPPBGDP-mannose pyrophosphorylase B | Ofte (30–79 %) | I 1 tilstand |
| GPAA1glycosylphosphatidylinositol anchor attachment 1 | Ofte (30–79 %) | I 1 tilstand |
| GPX4glutathione peroxidase 4 | Ofte (30–79 %) | I 2 tilstander |
| GRID2glutamate ionotropic receptor delta type subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Ofte (30–79 %) | I 1 tilstand |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Ofte (30–79 %) | I 1 tilstand |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Ofte (30–79 %) | I 1 tilstand |
| ITCHitchy E3 ubiquitin protein ligase | Ofte (30–79 %) | I 1 tilstand |
| KAT6Alysine acetyltransferase 6A | Ofte (30–79 %) | I 1 tilstand |
| KATNIPkatanin interacting protein | Ofte (30–79 %) | I 1 tilstand |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Ofte (30–79 %) | I 1 tilstand |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Ofte (30–79 %) | I 1 tilstand |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Ofte (30–79 %) | I 1 tilstand |
| KCNC3potassium voltage-gated channel subfamily C member 3 | Ofte (30–79 %) | I 1 tilstand |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Ofte (30–79 %) | I 1 tilstand |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Ofte (30–79 %) | I 1 tilstand |
| KCNK9potassium two pore domain channel subfamily K member 9 | Ofte (30–79 %) | I 1 tilstand |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Ofte (30–79 %) | I 1 tilstand |
| KDM3Blysine demethylase 3B | Ofte (30–79 %) | I 1 tilstand |
| KDM6Alysine demethylase 6A | Ofte (30–79 %) | I 1 tilstand |
| KIAA0586KIAA0586 | Ofte (30–79 %) | I 2 tilstander |
| KIAA0753KIAA0753 | Ofte (30–79 %) | I 1 tilstand |
| KRASKRas proto-oncogene, GTPase | Ofte (30–79 %) | I 1 tilstand |
| MAGmyelin associated glycoprotein | Ofte (30–79 %) | I 1 tilstand |
| MAP2K1mitogen-activated protein kinase kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| MAP2K2mitogen-activated protein kinase kinase 2 | Ofte (30–79 %) | I 1 tilstand |
| MAPK1mitogen-activated protein kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| MAST1microtubule associated serine/threonine kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Ofte (30–79 %) | I 1 tilstand |
| MED12Lmediator complex subunit 12L | Ofte (30–79 %) | I 1 tilstand |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Ofte (30–79 %) | I 2 tilstander |
| MICOS13mitochondrial contact site and cristae organizing system subunit 13 | Ofte (30–79 %) | I 1 tilstand |
| MRE11MRE11 double strand break repair nuclease | Ofte (30–79 %) | I 1 tilstand |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Ofte (30–79 %) | I 2 tilstander |
| MYF6myogenic factor 6 | Ofte (30–79 %) | I 1 tilstand |
| MYH7myosin heavy chain 7 | Ofte (30–79 %) | I 1 tilstand |
| MYO18Bmyosin XVIIIB | Ofte (30–79 %) | I 1 tilstand |
| NAA20N-alpha-acetyltransferase 20, NatB catalytic subunit | Ofte (30–79 %) | I 1 tilstand |
| NARS1asparaginyl-tRNA synthetase 1 | Ofte (30–79 %) | I 2 tilstander |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Ofte (30–79 %) | I 1 tilstand |
| NDUFA11NADH:ubiquinone oxidoreductase subunit A11 | Ofte (30–79 %) | I 1 tilstand |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Ofte (30–79 %) | I 1 tilstand |
| NEMFnuclear export mediator factor | Ofte (30–79 %) | I 1 tilstand |
| NKX6-2NK6 homeobox 2 | Ofte (30–79 %) | I 1 tilstand |
| NODALnodal growth differentiation factor | Ofte (30–79 %) | I 1 tilstand |
| NONOnon-POU domain containing octamer binding | Ofte (30–79 %) | I 2 tilstander |
| NOVA2NOVA alternative splicing regulator 2 | Ofte (30–79 %) | I 1 tilstand |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Ofte (30–79 %) | I 2 tilstander |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Ofte (30–79 %) | I 2 tilstander |
| NUP214nucleoporin 214 | Ofte (30–79 %) | I 1 tilstand |
| OFD1OFD1 centriole and centriolar satellite protein | Ofte (30–79 %) | I 1 tilstand |
| OPHN1oligophrenin 1 | Ofte (30–79 %) | I 2 tilstander |
| OTUD6BOTU deubiquitinase 6B | Ofte (30–79 %) | I 2 tilstander |
| PACS2phosphofurin acidic cluster sorting protein 2 | Ofte (30–79 %) | I 1 tilstand |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| PAX7paired box 7 | Ofte (30–79 %) | I 1 tilstand |
| PET100PET100 cytochrome c oxidase chaperone | Ofte (30–79 %) | I 1 tilstand |
| PHF21APHD finger protein 21A | Ofte (30–79 %) | I 1 tilstand |
| PLGplasminogen | Ofte (30–79 %) | I 1 tilstand |
| PMP22peripheral myelin protein 22 | Ofte (30–79 %) | I 1 tilstand |
| PNPLA2patatin like domain 2, triacylglycerol lipase | Ofte (30–79 %) | I 2 tilstander |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| POGZpogo transposable element derived with ZNF domain | Ofte (30–79 %) | I 1 tilstand |
| POLGDNA polymerase gamma, catalytic subunit | Ofte (30–79 %) | I 4 tilstander |
| POMT1protein O-mannosyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| POU3F3POU class 3 homeobox 3 | Ofte (30–79 %) | I 1 tilstand |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Ofte (30–79 %) | I 1 tilstand |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Ofte (30–79 %) | I 1 tilstand |
| PRKCGprotein kinase C gamma | Ofte (30–79 %) | I 1 tilstand |
| PRKD1protein kinase D1 | Ofte (30–79 %) | I 1 tilstand |
| PSAPprosaposin | Ofte (30–79 %) | I 3 tilstander |
| PTCH1patched 1 | Ofte (30–79 %) | I 1 tilstand |
| PUS1pseudouridine synthase 1 | Ofte (30–79 %) | I 1 tilstand |
| RAI1retinoic acid induced 1 | Ofte (30–79 %) | I 2 tilstander |
| RBM10RNA binding motif protein 10 | Ofte (30–79 %) | I 2 tilstander |
| RELREL proto-oncogene, NF-kB subunit | Ofte (30–79 %) | I 1 tilstand |
| RNU4ATACRNA, U4atac small nuclear | Ofte (30–79 %) | I 2 tilstander |
| ROBO3roundabout guidance receptor 3 | Ofte (30–79 %) | I 1 tilstand |
| RORARAR related orphan receptor A | Ofte (30–79 %) | I 1 tilstand |
| RSPRY1ring finger and SPRY domain containing 1 | Ofte (30–79 %) | I 2 tilstander |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Ofte (30–79 %) | I 2 tilstander |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Ofte (30–79 %) | I 2 tilstander |
| SETD1ASET domain containing 1A, histone lysine methyltransferase | Ofte (30–79 %) | I 1 tilstand |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Ofte (30–79 %) | I 1 tilstand |
| SHHsonic hedgehog signaling molecule | Ofte (30–79 %) | I 1 tilstand |
| SIX3SIX homeobox 3 | Ofte (30–79 %) | I 2 tilstander |
| SLC13A3solute carrier family 13 member 3 | Ofte (30–79 %) | I 1 tilstand |
| SLC13A5solute carrier family 13 member 5 | Ofte (30–79 %) | I 1 tilstand |
| SLC1A2solute carrier family 1 member 2 | Ofte (30–79 %) | I 2 tilstander |
| SLC25A15solute carrier family 25 member 15 | Ofte (30–79 %) | I 1 tilstand |
| SLC38A3solute carrier family 38 member 3 | Ofte (30–79 %) | I 1 tilstand |
| SPARTspartin | Ofte (30–79 %) | I 1 tilstand |
| SPEGstriated muscle enriched protein kinase | Ofte (30–79 %) | I 2 tilstander |
| STAG2STAG2 cohesin complex component | Ofte (30–79 %) | I 2 tilstander |
| STILSTIL centriolar assembly protein | Ofte (30–79 %) | I 1 tilstand |
| SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit | Ofte (30–79 %) | I 1 tilstand |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Ofte (30–79 %) | I 1 tilstand |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Ofte (30–79 %) | I 1 tilstand |
| SYNJ1synaptojanin 1 | Ofte (30–79 %) | I 1 tilstand |
| SZT2SZT2 subunit of KICSTOR complex | Ofte (30–79 %) | I 1 tilstand |
| TANC2tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 | Ofte (30–79 %) | I 1 tilstand |
| TBC1D20TBC1 domain family member 20 | Ofte (30–79 %) | I 1 tilstand |
| TBCEtubulin folding cofactor E | Ofte (30–79 %) | I 2 tilstander |
| TCTN3tectonic family member 3 | Ofte (30–79 %) | I 1 tilstand |
| TECPR2tectonin beta-propeller repeat containing 2 | Ofte (30–79 %) | I 1 tilstand |
| TET3tet methylcytosine dioxygenase 3 | Ofte (30–79 %) | I 1 tilstand |
| TGIF1TGFB induced factor homeobox 1 | Ofte (30–79 %) | I 1 tilstand |
| TIMM50translocase of inner mitochondrial membrane 50 | Ofte (30–79 %) | I 1 tilstand |
| TMEM216transmembrane protein 216 | Ofte (30–79 %) | I 1 tilstand |
| TMEM231transmembrane protein 231 | Ofte (30–79 %) | I 1 tilstand |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Ofte (30–79 %) | I 1 tilstand |
| TRAK1trafficking kinesin protein 1 | Ofte (30–79 %) | I 1 tilstand |
| TRIP4thyroid hormone receptor interactor 4 | Ofte (30–79 %) | I 2 tilstander |
| TTNtitin | Ofte (30–79 %) | I 2 tilstander |
| TUBB2Atubulin beta 2A class IIa | Ofte (30–79 %) | I 1 tilstand |
| UBA5ubiquitin like modifier activating enzyme 5 | Ofte (30–79 %) | I 1 tilstand |
| UFSP2UFM1 specific peptidase 2 | Ofte (30–79 %) | I 1 tilstand |
| USP9Xubiquitin specific peptidase 9 X-linked | Ofte (30–79 %) | I 1 tilstand |
| VARS1valyl-tRNA synthetase 1 | Ofte (30–79 %) | I 1 tilstand |
| VMA22vacuolar ATPase assembly factor VMA22 | Ofte (30–79 %) | I 1 tilstand |
| XPO1exportin 1 | Ofte (30–79 %) | I 1 tilstand |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Ofte (30–79 %) | I 1 tilstand |
| ZEB2zinc finger E-box binding homeobox 2 | Ofte (30–79 %) | I 1 tilstand |
| ZIC2Zic family zinc finger 2 | Ofte (30–79 %) | I 1 tilstand |
| ZNF462zinc finger protein 462 | Ofte (30–79 %) | I 1 tilstand |
| ADARB1adenosine deaminase RNA specific B1 | Noen ganger (5–29 %) | I 1 tilstand |
| APCAPC regulator of Wnt signaling pathway | Noen ganger (5–29 %) | I 1 tilstand |
| ASXL3ASXL transcriptional regulator 3 | Noen ganger (5–29 %) | I 1 tilstand |
| ATXN1ataxin 1 | Noen ganger (5–29 %) | I 2 tilstander |
| ATXN10ataxin 10 | Noen ganger (5–29 %) | I 1 tilstand |
| BMPR1Abone morphogenetic protein receptor type 1A | Noen ganger (5–29 %) | I 1 tilstand |
| CARS1cysteinyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CHMP1Acharged multivesicular body protein 1A | Noen ganger (5–29 %) | I 1 tilstand |
| COG1component of oligomeric golgi complex 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CPT2carnitine palmitoyltransferase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| DBR1debranching RNA lariats 1 | Noen ganger (5–29 %) | I 1 tilstand |
| EDN1endothelin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Noen ganger (5–29 %) | I 1 tilstand |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Noen ganger (5–29 %) | I 1 tilstand |
| ERFETS2 repressor factor | Noen ganger (5–29 %) | I 1 tilstand |
| EXTL3exostosin like glycosyltransferase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| FBXW11F-box and WD repeat domain containing 11 | Noen ganger (5–29 %) | I 1 tilstand |
| GLRX5glutaredoxin 5 | Noen ganger (5–29 %) | I 1 tilstand |
| GNAI3G protein subunit alpha i3 | Noen ganger (5–29 %) | I 1 tilstand |
| GNB2G protein subunit beta 2 | Noen ganger (5–29 %) | I 1 tilstand |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Noen ganger (5–29 %) | I 1 tilstand |
| GRIK2glutamate ionotropic receptor kainate type subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| GTF2E2general transcription factor IIE subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| GTF2H5general transcription factor IIH subunit 5 | Noen ganger (5–29 %) | I 1 tilstand |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Noen ganger (5–29 %) | I 1 tilstand |
| IDH1isocitrate dehydrogenase (NADP(+)) 1 | Noen ganger (5–29 %) | I 1 tilstand |
| KBTBD13kelch repeat and BTB domain containing 13 | Noen ganger (5–29 %) | I 1 tilstand |
| KIF1Akinesin family member 1A | Noen ganger (5–29 %) | I 2 tilstander |
| KLHL41kelch like family member 41 | Noen ganger (5–29 %) | I 1 tilstand |
| LAMA1laminin subunit alpha 1 | Noen ganger (5–29 %) | I 1 tilstand |
| LRPPRCleucine rich pentatricopeptide repeat containing | Noen ganger (5–29 %) | I 1 tilstand |
| MPLKIPM-phase specific PLK1 interacting protein | Noen ganger (5–29 %) | I 1 tilstand |
| MYPNmyopalladin | Noen ganger (5–29 %) | I 2 tilstander |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Noen ganger (5–29 %) | I 1 tilstand |
| NEBnebulin | Noen ganger (5–29 %) | I 1 tilstand |
| PCBD1pterin-4 alpha-carbinolamine dehydratase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PLCB4phospholipase C beta 4 | Noen ganger (5–29 %) | I 1 tilstand |
| PLCH1phospholipase C eta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| POC1APOC1 centriolar protein A | Noen ganger (5–29 %) | I 1 tilstand |
| POLG2DNA polymerase gamma 2, accessory subunit | Noen ganger (5–29 %) | I 2 tilstander |
| PRNPprion protein (Kanno blood group) | Noen ganger (5–29 %) | I 1 tilstand |
| PTCHD1patched domain containing 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PTENphosphatase and tensin homolog | Noen ganger (5–29 %) | I 1 tilstand |
| PUF60poly(U) binding splicing factor 60 | Noen ganger (5–29 %) | I 1 tilstand |
| PUS3pseudouridine synthase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| RNF113Aring finger protein 113A | Noen ganger (5–29 %) | I 1 tilstand |
| RNF13ring finger protein 13 | Noen ganger (5–29 %) | I 1 tilstand |
| RPL10ribosomal protein L10 | Noen ganger (5–29 %) | I 1 tilstand |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Noen ganger (5–29 %) | I 2 tilstander |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Noen ganger (5–29 %) | I 1 tilstand |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Noen ganger (5–29 %) | I 1 tilstand |
| SDHAF1succinate dehydrogenase complex assembly factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SDHDsuccinate dehydrogenase complex subunit D | Noen ganger (5–29 %) | I 1 tilstand |
| SLC25A26solute carrier family 25 member 26 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC25A4solute carrier family 25 member 4 | Noen ganger (5–29 %) | I 2 tilstander |
| SLC35C1solute carrier family 35 member C1 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC9A7solute carrier family 9 member A7 | Noen ganger (5–29 %) | I 1 tilstand |
| SOX4SRY-box transcription factor 4 | Noen ganger (5–29 %) | I 1 tilstand |
| TARS1threonyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TDP2tyrosyl-DNA phosphodiesterase 2 | Noen ganger (5–29 %) | I 2 tilstander |
| TMEM63Atransmembrane protein 63A | Noen ganger (5–29 %) | I 1 tilstand |
| TMEM94transmembrane protein 94 | Noen ganger (5–29 %) | I 1 tilstand |
| TNFRSF11ATNF receptor superfamily member 11a | Noen ganger (5–29 %) | I 1 tilstand |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TPM2tropomyosin 2 | Noen ganger (5–29 %) | I 4 tilstander |
| TPM3tropomyosin 3 | Noen ganger (5–29 %) | I 2 tilstander |
| TWNKtwinkle mtDNA helicase | Noen ganger (5–29 %) | I 1 tilstand |
| UBA1ubiquitin like modifier activating enzyme 1 | Noen ganger (5–29 %) | I 1 tilstand |
| UGDHUDP-glucose 6-dehydrogenase | Noen ganger (5–29 %) | I 1 tilstand |
| AMMECR1AMMECR nuclear protein 1 | Sjelden (1–4%) | I 1 tilstand |
| FLNAfilamin A | Sjelden (1–4%) | I 1 tilstand |
| GFAPglial fibrillary acidic protein | Sjelden (1–4%) | I 1 tilstand |
| KMT2Clysine methyltransferase 2C | Sjelden (1–4%) | I 1 tilstand |
| MORC2MORC family CW-type zinc finger 2 | Sjelden (1–4%) | I 1 tilstand |
| PUS7pseudouridine synthase 7 | Sjelden (1–4%) | I 1 tilstand |
| THtyrosine hydroxylase | Sjelden (1–4%) | I 1 tilstand |
| TSPOAP1TSPO associated protein 1 | Sjelden (1–4%) | I 1 tilstand |
| ACADMacyl-CoA dehydrogenase medium chain | Ikke registrert | I 1 tilstand |
| ACAT2acetyl-CoA acetyltransferase 2 | Ikke registrert | I 1 tilstand |
| ACTBactin beta | Ikke registrert | I 1 tilstand |
| ACTN2actinin alpha 2 | Ikke registrert | I 1 tilstand |
| AGAaspartylglucosaminidase | Ikke registrert | I 1 tilstand |
| AGKacylglycerol kinase | Ikke registrert | I 1 tilstand |
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Ikke registrert | I 1 tilstand |
| AMER1APC membrane recruitment protein 1 | Ikke registrert | I 1 tilstand |
| ANK3ankyrin 3 | Ikke registrert | I 1 tilstand |
| ARFGEF2ARF guanine nucleotide exchange factor 2 | Ikke registrert | I 1 tilstand |
| ARHGAP31Rho GTPase activating protein 31 | Ikke registrert | I 1 tilstand |
| ARID2AT-rich interaction domain 2 | Ikke registrert | I 1 tilstand |
| ARL3ARF like GTPase 3 | Ikke registrert | I 1 tilstand |
| ARXaristaless related homeobox | Ikke registrert | I 1 tilstand |
| ASCC1activating signal cointegrator 1 complex subunit 1 | Ikke registrert | I 1 tilstand |
| ASPNATaspartate N-acetyltransferase | Ikke registrert | I 1 tilstand |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Ikke registrert | I 1 tilstand |
| BCKDHAbranched chain keto acid dehydrogenase E1 subunit alpha | Ikke registrert | I 1 tilstand |
| BCL11BBCL11 transcription factor B | Ikke registrert | I 1 tilstand |
| BCS1LBCS1 ubiquinol-cytochrome c reductase complex chaperone | Ikke registrert | I 1 tilstand |
| BLTP1bridge-like lipid transfer protein family member 1 | Ikke registrert | I 1 tilstand |
| BMPERBMP binding endothelial regulator | Ikke registrert | I 1 tilstand |
| BOLA3bolA family member 3 | Ikke registrert | I 1 tilstand |
| BSNDbarttin CLCNK type accessory subunit beta | Ikke registrert | I 1 tilstand |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Ikke registrert | I 1 tilstand |
| C2CD3C2 domain containing 3 centriole elongation regulator | Ikke registrert | I 1 tilstand |
| CAMK2Gcalcium/calmodulin dependent protein kinase II gamma | Ikke registrert | I 1 tilstand |
| CANT1calcium activated nucleotidase 1 | Ikke registrert | I 1 tilstand |
| CASRcalcium sensing receptor | Ikke registrert | I 1 tilstand |
| CD59CD59 molecule (CD59 blood group) | Ikke registrert | I 1 tilstand |
| CD96CD96 molecule | Ikke registrert | I 1 tilstand |
| CDC42cell division cycle 42 | Ikke registrert | I 1 tilstand |
| CDK10cyclin dependent kinase 10 | Ikke registrert | I 1 tilstand |
| CDK8cyclin dependent kinase 8 | Ikke registrert | I 1 tilstand |
| CEP290centrosomal protein 290 | Ikke registrert | I 1 tilstand |
| CEP41centrosomal protein 41 | Ikke registrert | I 1 tilstand |
| CHRNEcholinergic receptor nicotinic epsilon subunit | Ikke registrert | I 2 tilstander |
| CHST14carbohydrate sulfotransferase 14 | Ikke registrert | I 1 tilstand |
| CLCN4Cl-/H+ antiporter 4 | Ikke registrert | I 1 tilstand |
| CLCNKAchloride voltage-gated channel Ka | Ikke registrert | I 1 tilstand |
| CLCNKBchloride voltage-gated channel Kb | Ikke registrert | I 1 tilstand |
| CNTNAP1contactin associated protein 1 | Ikke registrert | I 1 tilstand |
| CNTNAP2contactin associated protein 2 | Ikke registrert | I 1 tilstand |
| COL2A1collagen type II alpha 1 chain | Ikke registrert | I 1 tilstand |
| COLQcollagen like tail subunit of asymmetric acetylcholinesterase | Ikke registrert | I 1 tilstand |
| COQ7coenzyme Q7, hydroxylase | Ikke registrert | I 1 tilstand |
| COQ9coenzyme Q9 | Ikke registrert | I 1 tilstand |
| CPT1Acarnitine palmitoyltransferase 1A | Ikke registrert | I 1 tilstand |
| CTU2cytosolic thiouridylase subunit 2 | Ikke registrert | I 1 tilstand |
| CUL4Bcullin 4B | Ikke registrert | I 1 tilstand |
| DCHS1dachsous cadherin-related 1 | Ikke registrert | I 1 tilstand |
| DDX11DEAD/H-box helicase 11 | Ikke registrert | I 1 tilstand |
| DHCR77-dehydrocholesterol reductase | Ikke registrert | I 1 tilstand |
| DHFRdihydrofolate reductase | Ikke registrert | I 1 tilstand |
| DMPKDM1 protein kinase | Ikke registrert | I 1 tilstand |
| DNAJC12DnaJ heat shock protein family (Hsp40) member C12 | Ikke registrert | I 1 tilstand |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Ikke registrert | I 1 tilstand |
| DYNC1I2dynein cytoplasmic 1 intermediate chain 2 | Ikke registrert | I 1 tilstand |
| EEDembryonic ectoderm development | Ikke registrert | I 1 tilstand |
| EFNB1ephrin B1 | Ikke registrert | I 1 tilstand |
| EIF2B1eukaryotic translation initiation factor 2B subunit alpha | Ikke registrert | I 1 tilstand |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Ikke registrert | I 1 tilstand |
| ELNelastin | Ikke registrert | I 1 tilstand |
| ELP1elongator acetyltransferase complex subunit 1 | Ikke registrert | I 1 tilstand |
| EMC1ER membrane protein complex subunit 1 | Ikke registrert | I 1 tilstand |
| EP300EP300 lysine acetyltransferase | Ikke registrert | I 1 tilstand |
| EXOSC3exosome component 3 | Ikke registrert | I 1 tilstand |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Ikke registrert | I 1 tilstand |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Ikke registrert | I 1 tilstand |
| FDX2ferredoxin 2 | Ikke registrert | I 1 tilstand |
| FERRY3FERRY endosomal RAB5 effector complex subunit 3 | Ikke registrert | I 1 tilstand |
| FHfumarate hydratase | Ikke registrert | I 1 tilstand |
| FLAD1flavin adenine dinucleotide synthetase 1 | Ikke registrert | I 1 tilstand |
| FLCNfolliculin | Ikke registrert | I 1 tilstand |
| GABRB3gamma-aminobutyric acid type A receptor subunit beta3 | Ikke registrert | I 1 tilstand |
| GALEUDP-galactose-4-epimerase | Ikke registrert | I 1 tilstand |
| GALNT2polypeptide N-acetylgalactosaminyltransferase 2 | Ikke registrert | I 1 tilstand |
| GCDHglutaryl-CoA dehydrogenase | Ikke registrert | I 1 tilstand |
| GLDCglycine decarboxylase | Ikke registrert | I 1 tilstand |
| GLE1GLE1 RNA export mediator | Ikke registrert | I 1 tilstand |
| GM2Aganglioside GM2 activator | Ikke registrert | I 1 tilstand |
| GNAO1G protein subunit alpha o1 | Ikke registrert | I 1 tilstand |
| GNPATglyceronephosphate O-acyltransferase | Ikke registrert | I 1 tilstand |
| GRIN2Bglutamate ionotropic receptor NMDA type subunit 2B | Ikke registrert | I 1 tilstand |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Ikke registrert | I 1 tilstand |
| HADHhydroxyacyl-CoA dehydrogenase | Ikke registrert | I 1 tilstand |
| HDAC8histone deacetylase 8 | Ikke registrert | I 1 tilstand |
| HEXAhexosaminidase subunit alpha | Ikke registrert | I 1 tilstand |
| HLCSholocarboxylase synthetase | Ikke registrert | I 1 tilstand |
| HNRNPUheterogeneous nuclear ribonucleoprotein U | Ikke registrert | I 1 tilstand |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Ikke registrert | I 1 tilstand |
| HTRA2HtrA serine peptidase 2 | Ikke registrert | I 1 tilstand |
| IFIH1interferon induced with helicase C domain 1 | Ikke registrert | I 2 tilstander |
| INPPL1inositol polyphosphate phosphatase like 1 | Ikke registrert | I 1 tilstand |
| IQSEC2IQ motif and Sec7 domain ArfGEF 2 | Ikke registrert | I 1 tilstand |
| ISCA2iron-sulfur cluster assembly 2 | Ikke registrert | I 1 tilstand |
| KAT6Blysine acetyltransferase 6B | Ikke registrert | I 1 tilstand |
| KCNJ10potassium inwardly rectifying channel subfamily J member 10 | Ikke registrert | I 1 tilstand |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Ikke registrert | I 1 tilstand |
| KDM1Alysine demethylase 1A | Ikke registrert | I 1 tilstand |
| KIF14kinesin family member 14 | Ikke registrert | I 1 tilstand |
| KIF22kinesin family member 22 | Ikke registrert | I 1 tilstand |
| KMT2Elysine methyltransferase 2E (inactive) | Ikke registrert | I 1 tilstand |
| LARS1leucyl-tRNA synthetase 1 | Ikke registrert | I 1 tilstand |
| LIASlipoic acid synthetase | Ikke registrert | I 1 tilstand |
| LIFRLIF receptor subunit alpha | Ikke registrert | I 1 tilstand |
| LMBRD1LMBR1 domain containing 1 | Ikke registrert | I 1 tilstand |
| MAN2B1mannosidase alpha class 2B member 1 | Ikke registrert | I 1 tilstand |
| MANBAmannosidase beta | Ikke registrert | I 1 tilstand |
| MAPRE2microtubule associated protein RP/EB family member 2 | Ikke registrert | I 1 tilstand |
| MCCC1methylcrotonyl-CoA carboxylase subunit 1 | Ikke registrert | I 1 tilstand |
| MCCC2methylcrotonyl-CoA carboxylase subunit 2 | Ikke registrert | I 1 tilstand |
| MCOLN1mucolipin TRP cation channel 1 | Ikke registrert | I 1 tilstand |
| MED12mediator complex subunit 12 | Ikke registrert | I 1 tilstand |
| MED13Lmediator complex subunit 13L | Ikke registrert | I 1 tilstand |
| MLXIPLMLX interacting protein like | Ikke registrert | I 1 tilstand |
| MLYCDmalonyl-CoA decarboxylase | Ikke registrert | I 1 tilstand |
| MMAAmetabolism of cobalamin associated A | Ikke registrert | I 1 tilstand |
| MMACHCmetabolism of cobalamin associated C | Ikke registrert | I 1 tilstand |
| MMADHCmetabolism of cobalamin associated D | Ikke registrert | I 1 tilstand |
| MPC1mitochondrial pyruvate carrier 1 | Ikke registrert | I 1 tilstand |
| MPImannose phosphate isomerase | Ikke registrert | I 1 tilstand |
| MTORmechanistic target of rapamycin kinase | Ikke registrert | I 1 tilstand |
| MUSKmuscle associated receptor tyrosine kinase | Ikke registrert | I 1 tilstand |
| MVKmevalonate kinase | Ikke registrert | I 1 tilstand |
| MYMKmyomaker, myoblast fusion factor | Ikke registrert | I 1 tilstand |
| NAGAalpha-N-acetylgalactosaminidase | Ikke registrert | I 1 tilstand |
| NANSN-acetylneuraminate synthase | Ikke registrert | I 1 tilstand |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Ikke registrert | I 1 tilstand |
| NDUFA12NADH:ubiquinone oxidoreductase subunit A12 | Ikke registrert | I 1 tilstand |
| NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5 | Ikke registrert | I 1 tilstand |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Ikke registrert | I 1 tilstand |
| NDUFS3NADH:ubiquinone oxidoreductase core subunit S3 | Ikke registrert | I 1 tilstand |
| NDUFS7NADH:ubiquinone oxidoreductase core subunit S7 | Ikke registrert | I 1 tilstand |
| NDUFV2NADH:ubiquinone oxidoreductase core subunit V2 | Ikke registrert | I 1 tilstand |
| NEU1neuraminidase 1 | Ikke registrert | I 1 tilstand |
| NKX2-1NK2 homeobox 1 | Ikke registrert | I 1 tilstand |
| NPC1NPC intracellular cholesterol transporter 1 | Ikke registrert | I 1 tilstand |
| NPHP1nephrocystin 1 | Ikke registrert | I 1 tilstand |
| NRXN1neurexin 1 | Ikke registrert | I 1 tilstand |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Ikke registrert | I 1 tilstand |
| PACS1phosphofurin acidic cluster sorting protein 1 | Ikke registrert | I 1 tilstand |
| PAK1p21 (RAC1) activated kinase 1 | Ikke registrert | I 1 tilstand |
| PBX1PBX homeobox 1 | Ikke registrert | I 1 tilstand |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Ikke registrert | I 1 tilstand |
| PDP1pyruvate dehydrogenase phosphatase catalytic subunit 1 | Ikke registrert | I 1 tilstand |
| PEX1peroxisomal biogenesis factor 1 | Ikke registrert | I 2 tilstander |
| PEX12peroxisomal biogenesis factor 12 | Ikke registrert | I 2 tilstander |
| PEX16peroxisomal biogenesis factor 16 | Ikke registrert | I 1 tilstand |
| PEX2peroxisomal biogenesis factor 2 | Ikke registrert | I 1 tilstand |
| PEX3peroxisomal biogenesis factor 3 | Ikke registrert | I 1 tilstand |
| PEX5peroxisomal biogenesis factor 5 | Ikke registrert | I 1 tilstand |
| PGM3phosphoglucomutase 3 | Ikke registrert | I 1 tilstand |
| PHF6PHD finger protein 6 | Ikke registrert | I 1 tilstand |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Ikke registrert | I 2 tilstander |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Ikke registrert | I 1 tilstand |
| PIGHphosphatidylinositol glycan anchor biosynthesis class H | Ikke registrert | I 1 tilstand |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Ikke registrert | I 1 tilstand |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Ikke registrert | I 1 tilstand |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Ikke registrert | I 1 tilstand |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Ikke registrert | I 1 tilstand |
| PLA2G6phospholipase A2 group VI | Ikke registrert | I 1 tilstand |
| PMPCApeptidase, mitochondrial processing subunit alpha | Ikke registrert | I 1 tilstand |
| PNPpurine nucleoside phosphorylase | Ikke registrert | I 1 tilstand |
| POLR3ARNA polymerase III subunit A | Ikke registrert | I 1 tilstand |
| POMT2protein O-mannosyltransferase 2 | Ikke registrert | I 1 tilstand |
| PPT1palmitoyl-protein thioesterase 1 | Ikke registrert | I 1 tilstand |
| PRDX1peroxiredoxin 1 | Ikke registrert | I 1 tilstand |
| PRF1perforin 1 | Ikke registrert | I 1 tilstand |
| PRODHproline dehydrogenase 1 | Ikke registrert | I 1 tilstand |
| PTDSS1phosphatidylserine synthase 1 | Ikke registrert | I 1 tilstand |
| RETret proto-oncogene | Ikke registrert | I 1 tilstand |
| RETREG1reticulophagy regulator 1 | Ikke registrert | I 1 tilstand |
| RLIMring finger protein, LIM domain interacting | Ikke registrert | I 1 tilstand |
| RNASEH2Cribonuclease H2 subunit C | Ikke registrert | I 1 tilstand |
| RPS23ribosomal protein S23 | Ikke registrert | I 1 tilstand |
| SCN9Asodium voltage-gated channel alpha subunit 9 | Ikke registrert | I 1 tilstand |
| SERAC1serine active site containing 1 | Ikke registrert | I 1 tilstand |
| SETD2SET domain containing 2, histone lysine methyltransferase | Ikke registrert | I 1 tilstand |
| SGPL1sphingosine-1-phosphate lyase 1 | Ikke registrert | I 1 tilstand |
| SIX6SIX homeobox 6 | Ikke registrert | I 1 tilstand |
| SKISKI proto-oncogene | Ikke registrert | I 1 tilstand |
| SLC17A5solute carrier family 17 member 5 | Ikke registrert | I 2 tilstander |
| SLC22A5solute carrier family 22 member 5 | Ikke registrert | I 1 tilstand |
| SLC25A20solute carrier family 25 member 20 | Ikke registrert | I 1 tilstand |
| SLC25A24solute carrier family 25 member 24 | Ikke registrert | I 1 tilstand |
| SLC25A42solute carrier family 25 member 42 | Ikke registrert | I 1 tilstand |
| SLC25A46solute carrier family 25 member 46 | Ikke registrert | I 1 tilstand |
| SLC2A10solute carrier family 2 member 10 | Ikke registrert | I 1 tilstand |
| SLC35A1solute carrier family 35 member A1 | Ikke registrert | I 1 tilstand |
| SLC35A3solute carrier family 35 member A3 | Ikke registrert | I 1 tilstand |
| SLC45A1solute carrier family 45 member 1 | Ikke registrert | I 1 tilstand |
| SLC46A1solute carrier family 46 member 1 | Ikke registrert | I 1 tilstand |
| SLC52A2solute carrier family 52 member 2 | Ikke registrert | I 1 tilstand |
| SLC9A6solute carrier family 9 member A6 | Ikke registrert | I 1 tilstand |
| SMN1survival of motor neuron 1, telomeric | Ikke registrert | I 1 tilstand |
| SMSspermine synthase | Ikke registrert | I 1 tilstand |
| SOX2SRY-box transcription factor 2 | Ikke registrert | I 1 tilstand |
| SOX5SRY-box transcription factor 5 | Ikke registrert | I 1 tilstand |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Ikke registrert | I 1 tilstand |
| STAMBPSTAM binding protein | Ikke registrert | I 1 tilstand |
| STRA6signaling receptor and transporter of retinol STRA6 | Ikke registrert | I 1 tilstand |
| STRADASTE20 related adaptor alpha | Ikke registrert | I 1 tilstand |
| SUOXsulfite oxidase | Ikke registrert | I 1 tilstand |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Ikke registrert | I 1 tilstand |
| TANGO2transport and golgi organization 2 homolog | Ikke registrert | I 1 tilstand |
| TBC1D23TBC1 domain family member 23 | Ikke registrert | I 1 tilstand |
| TBC1D24TBC1 domain family member 24 | Ikke registrert | I 1 tilstand |
| TBR1T-box brain transcription factor 1 | Ikke registrert | I 1 tilstand |
| TGFB1transforming growth factor beta 1 | Ikke registrert | I 1 tilstand |
| TLK2tousled like kinase 2 | Ikke registrert | I 1 tilstand |
| TMEM237transmembrane protein 237 | Ikke registrert | I 1 tilstand |
| TMEM67transmembrane protein 67 | Ikke registrert | I 1 tilstand |
| TMEM70transmembrane protein 70 | Ikke registrert | I 1 tilstand |
| TPI1triosephosphate isomerase 1 | Ikke registrert | I 1 tilstand |
| TRAPPC11trafficking protein particle complex subunit 11 | Ikke registrert | I 1 tilstand |
| TRIT1tRNA isopentenyltransferase 1 | Ikke registrert | I 1 tilstand |
| TRNT1tRNA nucleotidyl transferase 1 | Ikke registrert | I 1 tilstand |
| TRPS1transcriptional repressor GATA binding 1 | Ikke registrert | I 1 tilstand |
| TSFMTs translation elongation factor, mitochondrial | Ikke registrert | I 1 tilstand |
| TUBA1Atubulin alpha 1a | Ikke registrert | I 1 tilstand |
| TXN2thioredoxin 2 | Ikke registrert | I 1 tilstand |
| UBE3Aubiquitin protein ligase E3A | Ikke registrert | I 1 tilstand |
| UBE3Bubiquitin protein ligase E3B | Ikke registrert | I 1 tilstand |
| UBR1ubiquitin protein ligase E3 component n-recognin 1 | Ikke registrert | I 1 tilstand |
| UFM1ubiquitin fold modifier 1 | Ikke registrert | I 1 tilstand |
| UNC80unc-80 subunit of NALCN channel complex | Ikke registrert | I 1 tilstand |
| USP18ubiquitin specific peptidase 18 | Ikke registrert | I 1 tilstand |
| USP7ubiquitin specific peptidase 7 | Ikke registrert | I 1 tilstand |
| VDRvitamin D receptor | Ikke registrert | I 1 tilstand |
| VIPAS39VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog | Ikke registrert | I 1 tilstand |
| VLDLRvery low density lipoprotein receptor | Ikke registrert | I 1 tilstand |
| VPS33BVPS33B late endosome and lysosome associated | Ikke registrert | I 1 tilstand |
| WACWW domain containing adaptor with coiled-coil | Ikke registrert | I 1 tilstand |
| WASHC5WASH complex subunit 5 | Ikke registrert | I 1 tilstand |
| WNK1WNK lysine deficient protein kinase 1 | Ikke registrert | I 1 tilstand |
| WNK3WNK lysine deficient protein kinase 3 | Ikke registrert | I 1 tilstand |
| ZBTB18zinc finger and BTB domain containing 18 | Ikke registrert | I 1 tilstand |
| ZC4H2zinc finger C4H2-type containing | Ikke registrert | I 2 tilstander |
| ZNHIT3zinc finger HIT-type containing 3 | 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.
Smalere egenskaper
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 2026.10.17-8666dff2.
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