Egenskap
Motor delay
A type of Developmental delay characterized by a delay in acquiring motor skills.
Sammendrag
- Også kalt
- Delay in development of motor milestones, Delay in motor development, Delayed development of motor milestones, Delayed early motor milestones, Delayed motor development, Delayed motor milestones, Locomotor delay, Motor developmental delay, Motor developmental milestones not achieved, Slow development of motor milestones
- Kroppssystem
- Abnormality of the nervous system
ReferansegenomGRCh38hg38
Posisjoner på gen- og variantsidene følger dette valget i denne nettleseren.
Read the genes linked to Motor delay, and the rest of your genome, with one test.
Fra 449 $Gratis frakt · Resultater på 6–8 uker
Få mitt Genome Test768 gener knyttet til Motor delay
Endringer i disse genene forårsaker sjeldne tilstander der Motor delay 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 2 tilstander |
| ACADSBacyl-CoA dehydrogenase short/branched chain | Alltid | I 1 tilstand |
| ACBD5acyl-CoA binding domain containing 5 | Alltid | I 1 tilstand |
| ACTBactin beta | Alltid | I 1 tilstand |
| ADAadenosine deaminase | Alltid | I 1 tilstand |
| ADARB1adenosine deaminase RNA specific B1 | Alltid | I 1 tilstand |
| AGO2argonaute RISC catalytic component 2 | Alltid | I 1 tilstand |
| AGTPBP1ATP/GTP binding carboxypeptidase 1 | Alltid | I 2 tilstander |
| AHDC1AT-hook DNA binding motif containing 1 | Alltid | I 2 tilstander |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Alltid | I 3 tilstander |
| AMFRautocrine motility factor receptor | Alltid | I 1 tilstand |
| AP3B1adaptor related protein complex 3 subunit beta 1 | Alltid | I 1 tilstand |
| ASPMassembly factor for spindle microtubules | Alltid | I 1 tilstand |
| ATP2A1ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 | Alltid | I 1 tilstand |
| ATP2B3ATPase plasma membrane Ca2+ transporting 3 | Alltid | I 2 tilstander |
| ATP6V1AATPase H+ transporting V1 subunit A | Alltid | I 2 tilstander |
| ATP9AATPase phospholipid transporting 9A | Alltid | I 1 tilstand |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Alltid | I 1 tilstand |
| BAIAP2BAR/IMD domain containing adaptor protein 2 | Alltid | I 1 tilstand |
| BCKDKbranched chain keto acid dehydrogenase kinase | Alltid | I 1 tilstand |
| BCORBCL6 corepressor | Alltid | I 2 tilstander |
| CACNA1Scalcium voltage-gated channel subunit alpha1 S | Alltid | I 1 tilstand |
| CDK13cyclin dependent kinase 13 | Alltid | I 1 tilstand |
| CEP295centrosomal protein 295 | Alltid | I 1 tilstand |
| CFL2cofilin 2 | Alltid | I 1 tilstand |
| CHAMP1chromosome alignment maintaining phosphoprotein 1 | Alltid | I 1 tilstand |
| CHD7chromodomain helicase DNA binding protein 7 | Alltid | I 1 tilstand |
| CHRNDcholinergic receptor nicotinic delta subunit | Alltid | I 1 tilstand |
| CHST3carbohydrate sulfotransferase 3 | Alltid | I 2 tilstander |
| CICcapicua transcriptional repressor | Alltid | I 1 tilstand |
| CLCN6Cl-/H+ antiporter 6 | Alltid | I 1 tilstand |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Alltid | I 1 tilstand |
| COG5component of oligomeric golgi complex 5 | Alltid | I 2 tilstander |
| COL12A1collagen type XII alpha 1 chain | Alltid | I 3 tilstander |
| COL6A1collagen type VI alpha 1 chain | Alltid | I 2 tilstander |
| COL6A2collagen type VI alpha 2 chain | Alltid | I 1 tilstand |
| CPEcarboxypeptidase E | Alltid | I 1 tilstand |
| CPT1Acarnitine palmitoyltransferase 1A | Alltid | I 1 tilstand |
| CRATcarnitine O-acetyltransferase | Alltid | I 1 tilstand |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Alltid | I 1 tilstand |
Vis 728 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| CTBP1C-terminal binding protein 1 | Alltid | I 1 tilstand |
| CUL3cullin 3 | Alltid | I 1 tilstand |
| CUL4Bcullin 4B | Alltid | I 1 tilstand |
| DAGLAdiacylglycerol lipase alpha | Alltid | I 1 tilstand |
| DEAF1DEAF1 transcription factor | Alltid | I 2 tilstander |
| DHRS3dehydrogenase/reductase 3 | Alltid | I 1 tilstand |
| DHX30DExH-box helicase 30 | Alltid | I 1 tilstand |
| DLG3discs large MAGUK scaffold protein 3 | Alltid | I 1 tilstand |
| DMXL2Dmx like 2 | Alltid | I 1 tilstand |
| DNASE2deoxyribonuclease 2, lysosomal | Alltid | I 1 tilstand |
| DPM3dolichyl-phosphate mannosyltransferase subunit 3, regulatory | Alltid | I 1 tilstand |
| DSTdystonin | Alltid | I 2 tilstander |
| DYNC1I2dynein cytoplasmic 1 intermediate chain 2 | Alltid | I 1 tilstand |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Alltid | I 1 tilstand |
| EGR2early growth response 2 | Alltid | I 2 tilstander |
| ELOVL1ELOVL fatty acid elongase 1 | Alltid | I 1 tilstand |
| ERI1exoribonuclease 1 | Alltid | I 1 tilstand |
| FBN1fibrillin 1 | Alltid | I 2 tilstander |
| FDXRferredoxin reductase | Alltid | I 1 tilstand |
| FGD4FYVE, RhoGEF and PH domain containing 4 | Alltid | I 1 tilstand |
| FITM2fat storage inducing transmembrane protein 2 | Alltid | I 1 tilstand |
| FKBP14FKBP prolyl isomerase 14 | Alltid | I 2 tilstander |
| FKTNfukutin | Alltid | I 3 tilstander |
| FOXP1forkhead box P1 | Alltid | I 2 tilstander |
| FRMD5FERM domain containing 5 | Alltid | I 1 tilstand |
| FXR1FMR1 autosomal homolog 1 | Alltid | I 2 tilstander |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Alltid | I 1 tilstand |
| GALNSgalactosamine (N-acetyl)-6-sulfatase | Alltid | I 1 tilstand |
| GANgigaxonin | Alltid | I 1 tilstand |
| GARS1glycyl-tRNA synthetase 1 | Alltid | I 1 tilstand |
| GEMIN5gem nuclear organelle associated protein 5 | Alltid | I 1 tilstand |
| GFPT1glutamine--fructose-6-phosphate transaminase 1 | Alltid | I 3 tilstander |
| GGPS1geranylgeranyl diphosphate synthase 1 | Alltid | I 1 tilstand |
| GJC2gap junction protein gamma 2 | Alltid | I 1 tilstand |
| GLRBglycine receptor beta | Alltid | I 1 tilstand |
| GTPBP1GTP binding protein 1 | Alltid | I 1 tilstand |
| GTPBP2GTP binding protein 2 | Alltid | I 1 tilstand |
| GUSBglucuronidase beta | Alltid | I 1 tilstand |
| HACD13-hydroxyacyl-CoA dehydratase 1 | Alltid | I 2 tilstander |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Alltid | I 1 tilstand |
| HIBCH3-hydroxyisobutyryl-CoA hydrolase | Alltid | I 2 tilstander |
| HID1HID1 domain containing | Alltid | I 1 tilstand |
| HNRNPA2B1heterogeneous nuclear ribonucleoprotein A2/B1 | Alltid | I 1 tilstand |
| HPDL4-hydroxyphenylpyruvate dioxygenase like | Alltid | I 1 tilstand |
| HS2ST1heparan sulfate 2-O-sulfotransferase 1 | Alltid | I 1 tilstand |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Alltid | I 2 tilstander |
| IFT52intraflagellar transport 52 | Alltid | I 1 tilstand |
| IFT74intraflagellar transport 74 | Alltid | I 1 tilstand |
| IGF1insulin like growth factor 1 | Alltid | I 2 tilstander |
| IL1RNinterleukin 1 receptor antagonist | Alltid | I 1 tilstand |
| IL37interleukin 37 | Alltid | I 1 tilstand |
| INTS11integrator complex subunit 11 | Alltid | I 1 tilstand |
| IPO8importin 8 | Alltid | I 1 tilstand |
| IQSEC1IQ motif and Sec7 domain ArfGEF 1 | Alltid | I 1 tilstand |
| ITCHitchy E3 ubiquitin protein ligase | Alltid | I 1 tilstand |
| ITGA7integrin subunit alpha 7 | Alltid | I 2 tilstander |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Alltid | I 3 tilstander |
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Alltid | I 1 tilstand |
| JKAMPJNK1/MAPK8 associated membrane protein | Alltid | I 1 tilstand |
| KARS1lysyl-tRNA synthetase 1 | Alltid | I 1 tilstand |
| KATNB1katanin regulatory subunit B1 | Alltid | I 1 tilstand |
| KDM5Clysine demethylase 5C | Alltid | I 1 tilstand |
| KPNA3karyopherin subunit alpha 3 | Alltid | I 1 tilstand |
| LAMA2laminin subunit alpha 2 | Alltid | I 3 tilstander |
| LAMB1laminin subunit beta 1 | Alltid | I 1 tilstand |
| LGI1leucine rich glioma inactivated 1 | Alltid | I 1 tilstand |
| LIASlipoic acid synthetase | Alltid | I 1 tilstand |
| LIG1DNA ligase 1 | Alltid | I 1 tilstand |
| LINGO1leucine rich repeat and Ig domain containing 1 | Alltid | I 1 tilstand |
| MADDMAP kinase activating death domain | Alltid | I 2 tilstander |
| MAN1B1mannosidase alpha class 1B member 1 | Alltid | I 1 tilstand |
| MAN2C1mannosidase alpha class 2C member 1 | Alltid | I 1 tilstand |
| MARS1methionyl-tRNA synthetase 1 | Alltid | I 2 tilstander |
| MAU2MAU2 sister chromatid cohesion factor | Alltid | I 1 tilstand |
| MBD5methyl-CpG binding domain protein 5 | Alltid | I 1 tilstand |
| MCEEmethylmalonyl-CoA epimerase | Alltid | I 1 tilstand |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Alltid | I 1 tilstand |
| MEF2Cmyocyte enhancer factor 2C | Alltid | I 1 tilstand |
| MFFmitochondrial fission factor | Alltid | I 2 tilstander |
| MICU1mitochondrial calcium uptake 1 | Alltid | I 1 tilstand |
| MLIPmuscular LMNA interacting protein | Alltid | I 1 tilstand |
| MPZmyelin protein zero | Alltid | I 4 tilstander |
| MRPS25mitochondrial ribosomal protein S25 | Alltid | I 1 tilstand |
| MSL2MSL complex subunit 2 | Alltid | I 1 tilstand |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Alltid | I 1 tilstand |
| MYH3myosin heavy chain 3 | Alltid | I 1 tilstand |
| MYMKmyomaker, myoblast fusion factor | Alltid | I 1 tilstand |
| MYOD1myogenic differentiation 1 | Alltid | I 1 tilstand |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Alltid | I 1 tilstand |
| NALCNsodium leak channel, non-selective | Alltid | I 2 tilstander |
| NDRG1N-myc downstream regulated 1 | Alltid | I 2 tilstander |
| NDUFA12NADH:ubiquinone oxidoreductase subunit A12 | Alltid | I 1 tilstand |
| NIPBLNIPBL cohesin loading factor | Alltid | I 1 tilstand |
| NKX2-1NK2 homeobox 1 | Alltid | I 3 tilstander |
| NKX6-2NK6 homeobox 2 | Alltid | I 1 tilstand |
| NOVA2NOVA alternative splicing regulator 2 | Alltid | I 1 tilstand |
| NRAPnebulin related anchoring protein | Alltid | I 1 tilstand |
| NT5C25'-nucleotidase, cytosolic II | Alltid | I 2 tilstander |
| NTNG2netrin G2 | Alltid | I 1 tilstand |
| NUDT2nudix hydrolase 2 | Alltid | I 1 tilstand |
| NUP54nucleoporin 54 | Alltid | I 1 tilstand |
| OFD1OFD1 centriole and centriolar satellite protein | Alltid | I 1 tilstand |
| PAK1p21 (RAC1) activated kinase 1 | Alltid | I 1 tilstand |
| PET117PET117 cytochrome c oxidase chaperone | Alltid | I 1 tilstand |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Alltid | I 1 tilstand |
| PGAP2post-GPI attachment to proteins 2 | Alltid | I 1 tilstand |
| PI4K2Aphosphatidylinositol 4-kinase type 2 alpha | Alltid | I 1 tilstand |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Alltid | I 1 tilstand |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Alltid | I 1 tilstand |
| PMP22peripheral myelin protein 22 | Alltid | I 2 tilstander |
| POLR1ARNA polymerase I subunit A | Alltid | I 1 tilstand |
| POLR3GLRNA polymerase III subunit GL | Alltid | I 1 tilstand |
| POMKprotein O-mannose kinase | Alltid | I 1 tilstand |
| PPIL1peptidylprolyl isomerase like 1 | Alltid | I 1 tilstand |
| PRDM13PR/SET domain 13 | Alltid | I 2 tilstander |
| PRR12proline rich 12 | Alltid | I 1 tilstand |
| PRXperiaxin | Alltid | I 2 tilstander |
| PSMB1proteasome 20S subunit beta 1 | Alltid | I 1 tilstand |
| PSMG2proteasome assembly chaperone 2 | Alltid | I 1 tilstand |
| PTBP1polypyrimidine tract binding protein 1 | Alltid | I 1 tilstand |
| PTH1Rparathyroid hormone 1 receptor | Alltid | I 1 tilstand |
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Alltid | I 1 tilstand |
| PTRH2peptidyl-tRNA hydrolase 2 | Alltid | I 2 tilstander |
| PYCR1pyrroline-5-carboxylate reductase 1 | Alltid | I 1 tilstand |
| RALGAPA1Ral GTPase activating protein catalytic subunit alpha 1 | Alltid | I 1 tilstand |
| RAP1GDS1Rap1 GTPase-GDP dissociation stimulator 1 | Alltid | I 1 tilstand |
| RBSNrabenosyn, RAB effector | Alltid | I 1 tilstand |
| RNU4-2RNA, U4 small nuclear 2 | Alltid | I 1 tilstand |
| RSPRY1ring finger and SPRY domain containing 1 | Alltid | I 2 tilstander |
| RSRC1arginine and serine rich coiled-coil 1 | Alltid | I 1 tilstand |
| RTN2reticulon 2 | Alltid | I 1 tilstand |
| RUBCNrubicon autophagy regulator | Alltid | I 1 tilstand |
| RYR1ryanodine receptor 1 | Alltid | I 8 tilstander |
| SCN11Asodium voltage-gated channel alpha subunit 11 | Alltid | I 1 tilstand |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Alltid | I 3 tilstander |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Alltid | I 1 tilstand |
| SELENOIselenoprotein I | Alltid | I 1 tilstand |
| SERPINF1serpin family F member 1 | Alltid | I 1 tilstand |
| SLC12A6solute carrier family 12 member 6 | Alltid | I 2 tilstander |
| SLC25A42solute carrier family 25 member 42 | Alltid | I 1 tilstand |
| SLC32A1solute carrier family 32 member 1 | Alltid | I 1 tilstand |
| SLC5A7solute carrier family 5 member 7 | Alltid | I 1 tilstand |
| SLC9A1solute carrier family 9 member A1 | Alltid | I 1 tilstand |
| SOX5SRY-box transcription factor 5 | Alltid | I 1 tilstand |
| SP7Sp7 transcription factor | Alltid | I 1 tilstand |
| SPARTspartin | Alltid | I 2 tilstander |
| SPEGstriated muscle enriched protein kinase | Alltid | I 2 tilstander |
| SPOPspeckle type BTB/POZ protein | Alltid | I 2 tilstander |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Alltid | I 2 tilstander |
| SPTBN2spectrin beta, non-erythrocytic 2 | Alltid | I 1 tilstand |
| SPTBN4spectrin beta, non-erythrocytic 4 | Alltid | I 1 tilstand |
| SRD5A3steroid 5 alpha-reductase 3 | Alltid | I 2 tilstander |
| STAC3SH3 and cysteine rich domain 3 | Alltid | I 2 tilstander |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Alltid | I 1 tilstand |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Alltid | I 1 tilstand |
| SUPT7LSPT7 like, STAGA complex subunit gamma | Alltid | I 1 tilstand |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Alltid | I 1 tilstand |
| TAFAZZINtafazzin, phospholipid-lysophospholipid transacylase | Alltid | I 1 tilstand |
| TANGO2transport and golgi organization 2 homolog | Alltid | I 1 tilstand |
| TBK1TANK binding kinase 1 | Alltid | I 1 tilstand |
| TCF20transcription factor 20 | Alltid | I 1 tilstand |
| THG1LtRNA-histidine guanylyltransferase 1 like | Alltid | I 1 tilstand |
| TLK2tousled like kinase 2 | Alltid | I 1 tilstand |
| TMEM107transmembrane protein 107 | Alltid | I 1 tilstand |
| TMEM147transmembrane protein 147 | Alltid | I 1 tilstand |
| TMEM222transmembrane protein 222 | Alltid | I 1 tilstand |
| TNRtenascin R | Alltid | I 1 tilstand |
| TOR1Atorsin family 1 member A | Alltid | I 1 tilstand |
| TPM2tropomyosin 2 | Alltid | I 4 tilstander |
| TRIOtrio Rho guanine nucleotide exchange factor | Alltid | I 1 tilstand |
| TRIP4thyroid hormone receptor interactor 4 | Alltid | I 2 tilstander |
| TTNtitin | Alltid | I 2 tilstander |
| TUBA4Atubulin alpha 4a | Alltid | I 1 tilstand |
| TUBB2Btubulin beta 2B class IIb | Alltid | I 1 tilstand |
| UBA2ubiquitin like modifier activating enzyme 2 | Alltid | I 1 tilstand |
| UBAP2Lubiquitin associated protein 2 like | Alltid | I 1 tilstand |
| UBE3Aubiquitin protein ligase E3A | Alltid | I 1 tilstand |
| UBE3Bubiquitin protein ligase E3B | Alltid | I 1 tilstand |
| UBE3Cubiquitin protein ligase E3C | Alltid | I 1 tilstand |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Alltid | I 1 tilstand |
| UNC13Aunc-13 homolog A | Alltid | I 2 tilstander |
| UQCRFS1ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 | Alltid | I 1 tilstand |
| VAMP1vesicle associated membrane protein 1 | Alltid | I 1 tilstand |
| VARS1valyl-tRNA synthetase 1 | Alltid | I 1 tilstand |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Alltid | I 1 tilstand |
| VPS4Avacuolar protein sorting 4 homolog A | Alltid | I 1 tilstand |
| VRK1VRK serine/threonine kinase 1 | Alltid | I 3 tilstander |
| WBP4WW domain binding protein 4 | Alltid | I 1 tilstand |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Alltid | I 1 tilstand |
| YME1L1YME1 like 1 ATPase | Alltid | I 1 tilstand |
| YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | Alltid | I 1 tilstand |
| YY1YY1 transcription factor | Alltid | I 1 tilstand |
| ZMYND11zinc finger MYND-type containing 11 | Alltid | I 1 tilstand |
| ZSCAN10zinc finger and SCAN domain containing 10 | Alltid | I 1 tilstand |
| ZSWIM6zinc finger SWIM-type containing 6 | Alltid | I 1 tilstand |
| ADGRG1adhesion G protein-coupled receptor G1 | Svært ofte (80–99 %) | I 1 tilstand |
| AGO1argonaute RISC component 1 | Svært ofte (80–99 %) | I 1 tilstand |
| ARPC4actin related protein 2/3 complex subunit 4 | Svært ofte (80–99 %) | I 1 tilstand |
| ASPAaspartoacylase | Svært ofte (80–99 %) | I 2 tilstander |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Svært ofte (80–99 %) | I 2 tilstander |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Svært ofte (80–99 %) | I 1 tilstand |
| BCL11BBCL11 transcription factor B | Svært ofte (80–99 %) | I 1 tilstand |
| BPTFbromodomain PHD finger transcription factor | Svært ofte (80–99 %) | I 1 tilstand |
| CHD8chromodomain helicase DNA binding protein 8 | Svært ofte (80–99 %) | I 1 tilstand |
| CILK1ciliogenesis associated kinase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| COG4component of oligomeric golgi complex 4 | Svært ofte (80–99 %) | I 1 tilstand |
| COL1A1collagen type I alpha 1 chain | Svært ofte (80–99 %) | I 2 tilstander |
| COL1A2collagen type I alpha 2 chain | Svært ofte (80–99 %) | I 1 tilstand |
| CTNNB1catenin beta 1 | Svært ofte (80–99 %) | I 2 tilstander |
| CYP27B1cytochrome P450 family 27 subfamily B member 1 | Svært ofte (80–99 %) | I 2 tilstander |
| CYP2R1cytochrome P450 family 2 subfamily R member 1 | Svært ofte (80–99 %) | I 1 tilstand |
| DLK1delta like non-canonical Notch ligand 1 | Svært ofte (80–99 %) | I 3 tilstander |
| DMDdystrophin | Svært ofte (80–99 %) | I 1 tilstand |
| EBF3EBF transcription factor 3 | Svært ofte (80–99 %) | I 1 tilstand |
| EXOSC3exosome component 3 | Svært ofte (80–99 %) | I 1 tilstand |
| EXOSC8exosome component 8 | Svært ofte (80–99 %) | I 1 tilstand |
| EXOSC9exosome component 9 | Svært ofte (80–99 %) | I 1 tilstand |
| EXTL3exostosin like glycosyltransferase 3 | Svært ofte (80–99 %) | I 2 tilstander |
| FBXW11F-box and WD repeat domain containing 11 | Svært ofte (80–99 %) | I 1 tilstand |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Svært ofte (80–99 %) | I 1 tilstand |
| HDAC4histone deacetylase 4 | Svært ofte (80–99 %) | I 1 tilstand |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Svært ofte (80–99 %) | I 1 tilstand |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| INPP5Kinositol polyphosphate-5-phosphatase K | Svært ofte (80–99 %) | I 1 tilstand |
| KCNN2potassium calcium-activated channel subfamily N member 2 | Svært ofte (80–99 %) | I 1 tilstand |
| KDM2Blysine demethylase 2B | Svært ofte (80–99 %) | I 1 tilstand |
| KDM3Blysine demethylase 3B | Svært ofte (80–99 %) | I 1 tilstand |
| KDM6Blysine demethylase 6B | Svært ofte (80–99 %) | I 1 tilstand |
| LMBRD2LMBR1 domain containing 2 | Svært ofte (80–99 %) | I 1 tilstand |
| LMX1BLIM homeobox transcription factor 1 beta | Svært ofte (80–99 %) | I 1 tilstand |
| LONP1lon peptidase 1, mitochondrial | Svært ofte (80–99 %) | I 1 tilstand |
| LTBP4latent transforming growth factor beta binding protein 4 | Svært ofte (80–99 %) | I 1 tilstand |
| MAGEL2MAGE family member L2 | Svært ofte (80–99 %) | I 2 tilstander |
| MED13Lmediator complex subunit 13L | Svært ofte (80–99 %) | I 2 tilstander |
| MED27mediator complex subunit 27 | Svært ofte (80–99 %) | I 1 tilstand |
| MEG3maternally expressed 3 | Svært ofte (80–99 %) | I 3 tilstander |
| MKRN3makorin ring finger protein 3 | Svært ofte (80–99 %) | I 1 tilstand |
| MN1MN1 proto-oncogene, transcriptional regulator | Svært ofte (80–99 %) | I 1 tilstand |
| NAA15N-alpha-acetyltransferase 15, NatA auxiliary subunit | Svært ofte (80–99 %) | I 1 tilstand |
| NPAP1nuclear pore associated protein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| PPFIBP1PPFIB scaffold protein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| 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 |
| QRICH1glutamine rich 1 | Svært ofte (80–99 %) | I 1 tilstand |
| RFX7regulatory factor X7 | Svært ofte (80–99 %) | I 1 tilstand |
| RMP64ribonuclease MRP subunit p64 | Svært ofte (80–99 %) | I 1 tilstand |
| RNU2-2RNA, U2 small nuclear 2 | Svært ofte (80–99 %) | I 1 tilstand |
| RTL1retrotransposon Gag like 1 | Svært ofte (80–99 %) | I 3 tilstander |
| SATB1SATB homeobox 1 | Svært ofte (80–99 %) | I 2 tilstander |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Svært ofte (80–99 %) | I 1 tilstand |
| SETBP1SET binding protein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| SETD1ASET domain containing 1A, histone lysine methyltransferase | Svært ofte (80–99 %) | I 1 tilstand |
| SH3PXD2BSH3 and PX domains 2B | Svært ofte (80–99 %) | I 1 tilstand |
| SIAH1siah E3 ubiquitin protein ligase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| SIM1SIM bHLH transcription factor 1 | Svært ofte (80–99 %) | I 1 tilstand |
| SLC25A46solute carrier family 25 member 46 | Svært ofte (80–99 %) | I 1 tilstand |
| SLC6A1solute carrier family 6 member 1 | Svært ofte (80–99 %) | I 1 tilstand |
| SLC6A11solute carrier family 6 member 11 | 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 |
| SNUPNsnurportin 1 | Svært ofte (80–99 %) | I 1 tilstand |
| SPG21SPG21 abhydrolase domain containing, maspardin | Svært ofte (80–99 %) | I 1 tilstand |
| SPTBN1spectrin beta, non-erythrocytic 1 | Svært ofte (80–99 %) | I 1 tilstand |
| SRPK3SRSF protein kinase 3 | Svært ofte (80–99 %) | I 1 tilstand |
| STXBP1syntaxin binding protein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Svært ofte (80–99 %) | I 2 tilstander |
| SYT1synaptotagmin 1 | Svært ofte (80–99 %) | I 1 tilstand |
| TBCBtubulin folding cofactor B | Svært ofte (80–99 %) | I 1 tilstand |
| TBCKTBC1 domain containing kinase | Svært ofte (80–99 %) | I 1 tilstand |
| TMEM94transmembrane protein 94 | Svært ofte (80–99 %) | I 1 tilstand |
| TRIP12thyroid hormone receptor interactor 12 | Svært ofte (80–99 %) | I 1 tilstand |
| VPS41VPS41 subunit of HOPS complex | Svært ofte (80–99 %) | I 1 tilstand |
| WACWW domain containing adaptor with coiled-coil | Svært ofte (80–99 %) | I 2 tilstander |
| WDR73WD repeat domain 73 | Svært ofte (80–99 %) | I 1 tilstand |
| WWOXWW domain containing oxidoreductase | Svært ofte (80–99 %) | I 1 tilstand |
| ZBTB24zinc finger and BTB domain containing 24 | Svært ofte (80–99 %) | I 1 tilstand |
| ZBTB7Azinc finger and BTB domain containing 7A | Svært ofte (80–99 %) | I 1 tilstand |
| ZNF592zinc finger protein 592 | Svært ofte (80–99 %) | I 1 tilstand |
| AARS2alanyl-tRNA synthetase 2, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| ACTA1actin alpha 1, skeletal muscle | Ofte (30–79 %) | I 6 tilstander |
| ADA2adenosine deaminase 2 | Ofte (30–79 %) | I 1 tilstand |
| ADAMTS2ADAM metallopeptidase with thrombospondin type 1 motif 2 | Ofte (30–79 %) | I 2 tilstander |
| ADCY5adenylate cyclase 5 | Ofte (30–79 %) | I 2 tilstander |
| AEBP1AE binding protein 1 | Ofte (30–79 %) | I 2 tilstander |
| AGKacylglycerol kinase | Ofte (30–79 %) | I 1 tilstand |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Ofte (30–79 %) | I 2 tilstander |
| ALDH5A1aldehyde dehydrogenase 5 family member A1 | Ofte (30–79 %) | I 1 tilstand |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Ofte (30–79 %) | I 1 tilstand |
| ALPK3alpha kinase 3 | Ofte (30–79 %) | I 1 tilstand |
| ANKRD17ankyrin repeat domain 17 | Ofte (30–79 %) | I 1 tilstand |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Ofte (30–79 %) | I 1 tilstand |
| ATP5F1AATP synthase F1 subunit alpha | Ofte (30–79 %) | I 1 tilstand |
| ATP5F1DATP synthase F1 subunit delta | Ofte (30–79 %) | I 1 tilstand |
| ATP5F1EATP synthase F1 subunit epsilon | Ofte (30–79 %) | I 1 tilstand |
| ATP5MKATP synthase membrane subunit k | Ofte (30–79 %) | I 1 tilstand |
| ATP5POATP synthase peripheral stalk subunit OSCP | Ofte (30–79 %) | I 1 tilstand |
| ATP6AP2ATPase H+ transporting accessory protein 2 | Ofte (30–79 %) | I 2 tilstander |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Ofte (30–79 %) | I 1 tilstand |
| ATRXATRX chromatin remodeler | Ofte (30–79 %) | I 1 tilstand |
| ATXN7ataxin 7 | Ofte (30–79 %) | I 1 tilstand |
| ATXN7L3ataxin 7 like 3 | Ofte (30–79 %) | I 1 tilstand |
| AXIN1axin 1 | Ofte (30–79 %) | I 1 tilstand |
| B3GALT6beta-1,3-galactosyltransferase 6 | Ofte (30–79 %) | I 2 tilstander |
| B4GALT7beta-1,4-galactosyltransferase 7 | Ofte (30–79 %) | I 1 tilstand |
| BAP1BRCA1 associated deubiquitinase 1 | Ofte (30–79 %) | I 1 tilstand |
| BICD2BICD cargo adaptor 2 | Ofte (30–79 %) | I 3 tilstander |
| BIN1bridging integrator 1 | Ofte (30–79 %) | I 2 tilstander |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Ofte (30–79 %) | I 1 tilstand |
| BSNDbarttin CLCNK type accessory subunit beta | Ofte (30–79 %) | I 2 tilstander |
| CACHD1cache domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Ofte (30–79 %) | I 1 tilstand |
| CCDC78coiled-coil domain containing 78 | Ofte (30–79 %) | I 1 tilstand |
| CDCA7cell division cycle associated 7 | Ofte (30–79 %) | I 1 tilstand |
| CDH23cadherin related 23 | Ofte (30–79 %) | I 1 tilstand |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Ofte (30–79 %) | I 1 tilstand |
| CFAP20cilia and flagella associated protein 20 | Ofte (30–79 %) | I 1 tilstand |
| CHD5chromodomain helicase DNA binding protein 5 | Ofte (30–79 %) | I 1 tilstand |
| CLCNKAchloride voltage-gated channel Ka | Ofte (30–79 %) | I 2 tilstander |
| CLCNKBchloride voltage-gated channel Kb | Ofte (30–79 %) | I 2 tilstander |
| CNTNAP2contactin associated protein 2 | Ofte (30–79 %) | I 1 tilstand |
| COA8cytochrome c oxidase assembly factor 8 | Ofte (30–79 %) | I 1 tilstand |
| COG3component of oligomeric golgi complex 3 | Ofte (30–79 %) | I 1 tilstand |
| COL13A1collagen type XIII alpha 1 chain | Ofte (30–79 %) | I 1 tilstand |
| COL6A3collagen type VI alpha 3 chain | Ofte (30–79 %) | I 1 tilstand |
| COQ4coenzyme Q4 | Ofte (30–79 %) | I 1 tilstand |
| COXFA4cytochrome c oxidase associated subunit FA4 | Ofte (30–79 %) | I 1 tilstand |
| CPSF3cleavage and polyadenylation specific factor 3 | Ofte (30–79 %) | I 1 tilstand |
| CREBBPCREB binding lysine acetyltransferase | Ofte (30–79 %) | I 1 tilstand |
| CRPPACDP-L-ribitol pyrophosphorylase A | Ofte (30–79 %) | I 1 tilstand |
| CUX1cut like homeobox 1 | Ofte (30–79 %) | I 1 tilstand |
| DAG1dystroglycan 1 | Ofte (30–79 %) | I 1 tilstand |
| DARS1aspartyl-tRNA synthetase 1 | Ofte (30–79 %) | I 1 tilstand |
| DDCdopa decarboxylase | Ofte (30–79 %) | I 1 tilstand |
| DDR2discoidin domain receptor tyrosine kinase 2 | Ofte (30–79 %) | I 1 tilstand |
| DLATdihydrolipoamide S-acetyltransferase | Ofte (30–79 %) | I 1 tilstand |
| DONSONDNA replication fork stabilization factor DONSON | Ofte (30–79 %) | I 1 tilstand |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Ofte (30–79 %) | I 2 tilstander |
| DPF2double PHD fingers 2 | Ofte (30–79 %) | I 1 tilstand |
| DYMdymeclin | Ofte (30–79 %) | I 1 tilstand |
| DYNC1H1dynein cytoplasmic 1 heavy chain 1 | Ofte (30–79 %) | I 1 tilstand |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Ofte (30–79 %) | I 1 tilstand |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Ofte (30–79 %) | I 1 tilstand |
| ERFETS2 repressor factor | Ofte (30–79 %) | I 1 tilstand |
| ESPNespin | Ofte (30–79 %) | I 1 tilstand |
| FBLN1fibulin 1 | Ofte (30–79 %) | I 1 tilstand |
| FBLN5fibulin 5 | Ofte (30–79 %) | I 2 tilstander |
| FILIP1filamin A interacting protein 1 | Ofte (30–79 %) | I 1 tilstand |
| FKRPfukutin related protein | Ofte (30–79 %) | I 5 tilstander |
| FRA10AC1FRA10A associated CGG repeat 1 | Ofte (30–79 %) | I 1 tilstand |
| GAAalpha glucosidase | Ofte (30–79 %) | I 1 tilstand |
| GABBR1gamma-aminobutyric acid type B receptor subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| GALCgalactosylceramidase | Ofte (30–79 %) | I 1 tilstand |
| GCKglucokinase | Ofte (30–79 %) | I 1 tilstand |
| GDAP1ganglioside induced differentiation associated protein 1 | Ofte (30–79 %) | I 4 tilstander |
| GHRgrowth hormone receptor | Ofte (30–79 %) | I 1 tilstand |
| GJB1gap junction protein beta 1 | Ofte (30–79 %) | I 2 tilstander |
| GMNNgeminin DNA replication inhibitor | Ofte (30–79 %) | I 1 tilstand |
| GMPPBGDP-mannose pyrophosphorylase B | Ofte (30–79 %) | I 4 tilstander |
| GNB5G protein subunit beta 5 | Ofte (30–79 %) | I 1 tilstand |
| GPC3glypican 3 | Ofte (30–79 %) | I 1 tilstand |
| GPRC5BG protein-coupled receptor class C group 5 member B | Ofte (30–79 %) | I 1 tilstand |
| GPSM2G protein signaling modulator 2 | Ofte (30–79 %) | I 1 tilstand |
| GRB10growth factor receptor bound protein 10 | Ofte (30–79 %) | I 1 tilstand |
| GRIA1glutamate ionotropic receptor AMPA type subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| HELLShelicase, lymphoid specific | Ofte (30–79 %) | I 1 tilstand |
| HEPACAMhepatic and glial cell adhesion molecule | Ofte (30–79 %) | I 4 tilstander |
| HMGA2high mobility group AT-hook 2 | Ofte (30–79 %) | I 1 tilstand |
| IGF1Rinsulin like growth factor 1 receptor | Ofte (30–79 %) | I 2 tilstander |
| IGF2insulin like growth factor 2 | Ofte (30–79 %) | I 4 tilstander |
| IL6STinterleukin 6 cytokine family signal transducer | Ofte (30–79 %) | I 1 tilstand |
| INPPL1inositol polyphosphate phosphatase like 1 | Ofte (30–79 %) | I 1 tilstand |
| INSinsulin | Ofte (30–79 %) | I 1 tilstand |
| KBTBD13kelch repeat and BTB domain containing 13 | Ofte (30–79 %) | I 1 tilstand |
| KCNC3potassium voltage-gated channel subfamily C member 3 | Ofte (30–79 %) | I 2 tilstander |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Ofte (30–79 %) | I 1 tilstand |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Ofte (30–79 %) | I 1 tilstand |
| KDM6Alysine demethylase 6A | Ofte (30–79 %) | I 1 tilstand |
| KLHL40kelch like family member 40 | Ofte (30–79 %) | I 1 tilstand |
| KLHL41kelch like family member 41 | Ofte (30–79 %) | I 4 tilstander |
| KMT2Blysine methyltransferase 2B | Ofte (30–79 %) | I 1 tilstand |
| KMT2Dlysine methyltransferase 2D | Ofte (30–79 %) | I 1 tilstand |
| KPTNkaptin, actin binding protein | Ofte (30–79 %) | I 1 tilstand |
| KRASKRas proto-oncogene, GTPase | Ofte (30–79 %) | I 1 tilstand |
| LAMB2laminin subunit beta 2 | Ofte (30–79 %) | I 2 tilstander |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Ofte (30–79 %) | I 2 tilstander |
| LMOD3leiomodin 3 | Ofte (30–79 %) | I 1 tilstand |
| LTBP1latent transforming growth factor beta binding protein 1 | Ofte (30–79 %) | I 1 tilstand |
| MAN2B1mannosidase alpha class 2B member 1 | 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 |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Ofte (30–79 %) | I 2 tilstander |
| MARK2microtubule affinity regulating kinase 2 | Ofte (30–79 %) | I 1 tilstand |
| MCM3APminichromosome maintenance complex component 3 associated protein | Ofte (30–79 %) | I 1 tilstand |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Ofte (30–79 %) | I 1 tilstand |
| MED12Lmediator complex subunit 12L | Ofte (30–79 %) | I 1 tilstand |
| MPV17mitochondrial inner membrane protein MPV17 | Ofte (30–79 %) | I 1 tilstand |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Ofte (30–79 %) | I 2 tilstander |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Ofte (30–79 %) | I 1 tilstand |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Ofte (30–79 %) | I 1 tilstand |
| MTPAPmitochondrial poly(A) polymerase | Ofte (30–79 %) | I 1 tilstand |
| MYL2myosin light chain 2 | Ofte (30–79 %) | I 1 tilstand |
| MYO18Bmyosin XVIIIB | Ofte (30–79 %) | I 1 tilstand |
| MYO7Amyosin VIIA | Ofte (30–79 %) | I 2 tilstander |
| MYPNmyopalladin | Ofte (30–79 %) | I 2 tilstander |
| MYT1Lmyelin transcription factor 1 like | Ofte (30–79 %) | I 1 tilstand |
| NDUFA8NADH:ubiquinone oxidoreductase subunit A8 | Ofte (30–79 %) | I 1 tilstand |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Ofte (30–79 %) | I 1 tilstand |
| NEBnebulin | Ofte (30–79 %) | I 4 tilstander |
| NEFLneurofilament light chain | Ofte (30–79 %) | I 5 tilstander |
| NFIBnuclear factor I B | Ofte (30–79 %) | I 1 tilstand |
| NFIXnuclear factor I X | Ofte (30–79 %) | I 3 tilstander |
| NIPA1NIPA magnesium transporter 1 | Ofte (30–79 %) | I 1 tilstand |
| NIPA2NIPA magnesium transporter 2 | Ofte (30–79 %) | I 1 tilstand |
| NKX2-5NK2 homeobox 5 | Ofte (30–79 %) | I 1 tilstand |
| NKX3-2NK3 homeobox 2 | Ofte (30–79 %) | I 1 tilstand |
| NOTCH3notch receptor 3 | Ofte (30–79 %) | I 2 tilstander |
| NRASNRAS proto-oncogene, GTPase | Ofte (30–79 %) | I 1 tilstand |
| NRCAMneuronal cell adhesion molecule | Ofte (30–79 %) | I 1 tilstand |
| NSD1nuclear receptor binding SET domain protein 1 | Ofte (30–79 %) | I 2 tilstander |
| NSUN6NOP2/Sun RNA methyltransferase 6 | Ofte (30–79 %) | I 1 tilstand |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Ofte (30–79 %) | I 1 tilstand |
| OGDHoxoglutarate dehydrogenase | Ofte (30–79 %) | I 1 tilstand |
| PACSIN3protein kinase C and casein kinase substrate in neurons 3 | Ofte (30–79 %) | I 1 tilstand |
| PCDH15protocadherin related 15 | Ofte (30–79 %) | I 2 tilstander |
| PCDH19protocadherin 19 | Ofte (30–79 %) | I 1 tilstand |
| PDE10Aphosphodiesterase 10A | Ofte (30–79 %) | I 2 tilstander |
| PDX1pancreatic and duodenal homeobox 1 | Ofte (30–79 %) | I 1 tilstand |
| PHKG2phosphorylase kinase catalytic subunit gamma 2 | Ofte (30–79 %) | I 1 tilstand |
| PLAG1PLAG1 zinc finger | Ofte (30–79 %) | I 1 tilstand |
| PLECplectin | Ofte (30–79 %) | I 2 tilstander |
| PLPBPpyridoxal phosphate binding protein | Ofte (30–79 %) | I 1 tilstand |
| PLXND1plexin D1 | Ofte (30–79 %) | I 1 tilstand |
| PNPLA2patatin like domain 2, triacylglycerol lipase | Ofte (30–79 %) | I 1 tilstand |
| POGZpogo transposable element derived with ZNF domain | Ofte (30–79 %) | I 1 tilstand |
| POLD3DNA polymerase delta 3, accessory subunit | Ofte (30–79 %) | I 1 tilstand |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Ofte (30–79 %) | I 1 tilstand |
| POMT1protein O-mannosyltransferase 1 | Ofte (30–79 %) | I 3 tilstander |
| POMT2protein O-mannosyltransferase 2 | Ofte (30–79 %) | I 3 tilstander |
| PPP1R13Lprotein phosphatase 1 regulatory subunit 13 like | Ofte (30–79 %) | I 1 tilstand |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Ofte (30–79 %) | I 3 tilstander |
| PSMC3proteasome 26S subunit, ATPase 3 | Ofte (30–79 %) | I 1 tilstand |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Ofte (30–79 %) | I 1 tilstand |
| PTENphosphatase and tensin homolog | Ofte (30–79 %) | I 2 tilstander |
| PURApurine rich element binding protein A | Ofte (30–79 %) | I 1 tilstand |
| PUS7pseudouridine synthase 7 | Ofte (30–79 %) | I 1 tilstand |
| RAC1Rac family small GTPase 1 | Ofte (30–79 %) | I 1 tilstand |
| RAI1retinoic acid induced 1 | Ofte (30–79 %) | I 1 tilstand |
| RAP1BRAP1B, member of RAS oncogene family | Ofte (30–79 %) | I 1 tilstand |
| REPS1RALBP1 associated Eps domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| REV3LREV3 like, DNA directed polymerase zeta catalytic subunit | Ofte (30–79 %) | I 1 tilstand |
| RNF170ring finger protein 170 | Ofte (30–79 %) | I 1 tilstand |
| RNF220ring finger protein 220 | Ofte (30–79 %) | I 1 tilstand |
| RPS23ribosomal protein S23 | Ofte (30–79 %) | I 1 tilstand |
| RUSC2RUN and SH3 domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| SCO2synthesis of cytochrome C oxidase 2 | Ofte (30–79 %) | I 2 tilstander |
| SCYL1SCY1 like pseudokinase 1 | Ofte (30–79 %) | I 1 tilstand |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Ofte (30–79 %) | I 1 tilstand |
| SDHAF1succinate dehydrogenase complex assembly factor 1 | Ofte (30–79 %) | I 1 tilstand |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Ofte (30–79 %) | I 1 tilstand |
| SDHDsuccinate dehydrogenase complex subunit D | Ofte (30–79 %) | I 1 tilstand |
| SELENONselenoprotein N | Ofte (30–79 %) | I 2 tilstander |
| SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | Ofte (30–79 %) | I 1 tilstand |
| SH2B1SH2B adaptor protein 1 | Ofte (30–79 %) | I 1 tilstand |
| SIN3ASIN3 transcription regulator family member A | Ofte (30–79 %) | I 1 tilstand |
| SLC1A4solute carrier family 1 member 4 | Ofte (30–79 %) | I 1 tilstand |
| SLC25A15solute carrier family 25 member 15 | Ofte (30–79 %) | I 1 tilstand |
| SLC37A4solute carrier family 37 member 4 | Ofte (30–79 %) | I 1 tilstand |
| SLC39A13solute carrier family 39 member 13 | Ofte (30–79 %) | I 1 tilstand |
| SMC5structural maintenance of chromosomes 5 | Ofte (30–79 %) | I 1 tilstand |
| SMPD1sphingomyelin phosphodiesterase 1 | Ofte (30–79 %) | I 1 tilstand |
| SPRsepiapterin reductase | Ofte (30–79 %) | I 1 tilstand |
| SRSF1serine and arginine rich splicing factor 1 | Ofte (30–79 %) | I 1 tilstand |
| STAT3signal transducer and activator of transcription 3 | Ofte (30–79 %) | I 1 tilstand |
| STT3ASTT3 oligosaccharyltransferase complex catalytic subunit A | Ofte (30–79 %) | I 1 tilstand |
| SVBPsmall vasohibin binding protein | Ofte (30–79 %) | I 1 tilstand |
| TANC2tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 | Ofte (30–79 %) | I 1 tilstand |
| TAOK1TAO kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| THtyrosine hydroxylase | Ofte (30–79 %) | I 2 tilstander |
| TNNC2troponin C2, fast skeletal type | Ofte (30–79 %) | I 1 tilstand |
| TNNT1troponin T1, slow skeletal type | Ofte (30–79 %) | I 2 tilstander |
| TPM3tropomyosin 3 | Ofte (30–79 %) | I 5 tilstander |
| TRAF7TNF receptor associated factor 7 | Ofte (30–79 %) | I 1 tilstand |
| TRPV6transient receptor potential cation channel subfamily V member 6 | Ofte (30–79 %) | I 1 tilstand |
| TSEN15tRNA splicing endonuclease subunit 15 | Ofte (30–79 %) | I 1 tilstand |
| TSEN2tRNA splicing endonuclease subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| TSEN34tRNA splicing endonuclease subunit 34 | Ofte (30–79 %) | I 1 tilstand |
| TSEN54tRNA splicing endonuclease subunit 54 | Ofte (30–79 %) | I 1 tilstand |
| TSHBthyroid stimulating hormone subunit beta | Ofte (30–79 %) | I 1 tilstand |
| TSHRthyroid stimulating hormone receptor | Ofte (30–79 %) | I 3 tilstander |
| TSPOAP1TSPO associated protein 1 | Ofte (30–79 %) | I 1 tilstand |
| TUBB4Atubulin beta 4A class IVa | Ofte (30–79 %) | I 1 tilstand |
| TUBG1tubulin gamma 1 | Ofte (30–79 %) | I 1 tilstand |
| USH1CUSH1 protein network component harmonin | Ofte (30–79 %) | I 2 tilstander |
| USH1GUSH1 protein network component sans | Ofte (30–79 %) | I 1 tilstand |
| YARS2tyrosyl-tRNA synthetase 2 | Ofte (30–79 %) | I 1 tilstand |
| ZMIZ1zinc finger MIZ-type containing 1 | Ofte (30–79 %) | I 1 tilstand |
| ZMYM3zinc finger MYM-type containing 3 | Ofte (30–79 %) | I 1 tilstand |
| ZNF462zinc finger protein 462 | Ofte (30–79 %) | I 1 tilstand |
| ZNF711ZFX family zinc finger ZNF711 | Ofte (30–79 %) | I 1 tilstand |
| ZRSR2zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 | Ofte (30–79 %) | I 1 tilstand |
| ABCA12ATP binding cassette subfamily A member 12 | Noen ganger (5–29 %) | I 1 tilstand |
| ACAT1acetyl-CoA acetyltransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ACP5acid phosphatase 5, tartrate resistant | Noen ganger (5–29 %) | I 1 tilstand |
| ADAMTSL2ADAMTS like 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ADNPactivity dependent neuroprotector homeobox | Noen ganger (5–29 %) | I 1 tilstand |
| AGR2anterior gradient 2, protein disulphide isomerase family member | Noen ganger (5–29 %) | I 1 tilstand |
| AIPL1AIP like 1 HSP90 co-chaperone | Noen ganger (5–29 %) | I 1 tilstand |
| ALDOAaldolase, fructose-bisphosphate A | Noen ganger (5–29 %) | I 1 tilstand |
| ALMS1ALMS1 centrosome and basal body associated protein | Noen ganger (5–29 %) | I 1 tilstand |
| ASLargininosuccinate lyase | Noen ganger (5–29 %) | I 1 tilstand |
| ATL1atlastin GTPase 1 | Noen ganger (5–29 %) | I 2 tilstander |
| BMPR1Abone morphogenetic protein receptor type 1A | Noen ganger (5–29 %) | I 1 tilstand |
| CABP4calcium binding protein 4 | Noen ganger (5–29 %) | I 1 tilstand |
| CEP290centrosomal protein 290 | Noen ganger (5–29 %) | I 1 tilstand |
| COL2A1collagen type II alpha 1 chain | Noen ganger (5–29 %) | I 2 tilstander |
| COL5A1collagen type V alpha 1 chain | Noen ganger (5–29 %) | I 1 tilstand |
| COL5A2collagen type V alpha 2 chain | Noen ganger (5–29 %) | I 1 tilstand |
| CRB1crumbs cell polarity complex component 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CRXcone-rod homeobox | Noen ganger (5–29 %) | I 1 tilstand |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Noen ganger (5–29 %) | I 2 tilstander |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Noen ganger (5–29 %) | I 1 tilstand |
| DOLKdolichol kinase | Noen ganger (5–29 %) | I 1 tilstand |
| EHMT1euchromatic histone lysine methyltransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ELNelastin | Noen ganger (5–29 %) | I 1 tilstand |
| EPRS1glutamyl-prolyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| FIG4FIG4 phosphoinositide 5-phosphatase | Noen ganger (5–29 %) | I 1 tilstand |
| FLGfilaggrin | Noen ganger (5–29 %) | I 1 tilstand |
| FZD4frizzled class receptor 4 | Noen ganger (5–29 %) | I 1 tilstand |
| GALK1galactokinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GBF1golgi brefeldin A resistant guanine nucleotide exchange factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GDF6growth differentiation factor 6 | Noen ganger (5–29 %) | I 1 tilstand |
| 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 |
| GRM1glutamate metabotropic receptor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GUCY2Dguanylate cyclase 2D, retinal | Noen ganger (5–29 %) | I 1 tilstand |
| H19H19 imprinted maternally expressed transcript | Noen ganger (5–29 %) | I 2 tilstander |
| H4C5H4 clustered histone 5 | Noen ganger (5–29 %) | I 1 tilstand |
| HADHhydroxyacyl-CoA dehydrogenase | Noen ganger (5–29 %) | I 1 tilstand |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Noen ganger (5–29 %) | I 1 tilstand |
| HADHBhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | Noen ganger (5–29 %) | I 1 tilstand |
| HNMThistamine N-methyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Noen ganger (5–29 %) | I 1 tilstand |
| IDH1isocitrate dehydrogenase (NADP(+)) 1 | Noen ganger (5–29 %) | I 1 tilstand |
| IFT140intraflagellar transport 140 | Noen ganger (5–29 %) | I 1 tilstand |
| IMPDH1inosine monophosphate dehydrogenase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| IQCB1IQ motif containing B1 | Noen ganger (5–29 %) | I 1 tilstand |
| IVDisovaleryl-CoA dehydrogenase | Noen ganger (5–29 %) | I 1 tilstand |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNJ13potassium inwardly rectifying channel subfamily J member 13 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| KMT2Clysine methyltransferase 2C | Noen ganger (5–29 %) | I 1 tilstand |
| LAMP2lysosome associated membrane protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| LARS2leucyl-tRNA synthetase 2, mitochondrial | Noen ganger (5–29 %) | I 1 tilstand |
| LCA5lebercilin LCA5 | Noen ganger (5–29 %) | I 1 tilstand |
| LRATlecithin retinol acyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| LRP5LDL receptor related protein 5 | Noen ganger (5–29 %) | I 1 tilstand |
| MAOAmonoamine oxidase A | Noen ganger (5–29 %) | I 1 tilstand |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MORC2MORC family CW-type zinc finger 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Noen ganger (5–29 %) | I 1 tilstand |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Noen ganger (5–29 %) | I 1 tilstand |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Noen ganger (5–29 %) | I 1 tilstand |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Noen ganger (5–29 %) | I 1 tilstand |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Noen ganger (5–29 %) | I 1 tilstand |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Noen ganger (5–29 %) | I 1 tilstand |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Noen ganger (5–29 %) | I 2 tilstander |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Noen ganger (5–29 %) | I 1 tilstand |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| NDPnorrin cystine knot growth factor NDP | Noen ganger (5–29 %) | I 1 tilstand |
| NEU1neuraminidase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ORC6origin recognition complex subunit 6 | Noen ganger (5–29 %) | I 1 tilstand |
| OTX2orthodenticle homeobox 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PCBD1pterin-4 alpha-carbinolamine dehydratase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Noen ganger (5–29 %) | I 1 tilstand |
| PDK3pyruvate dehydrogenase kinase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| PGM1phosphoglucomutase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PHKA2phosphorylase kinase regulatory subunit alpha 2 | Noen ganger (5–29 %) | I 1 tilstand |
| POLR1DRNA polymerase I and III subunit D | Noen ganger (5–29 %) | I 1 tilstand |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Noen ganger (5–29 %) | I 2 tilstander |
| PRKRAprotein activator of interferon induced protein kinase EIF2AK2 | Noen ganger (5–29 %) | I 2 tilstander |
| PRPH2peripherin 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PTS6-pyruvoyltetrahydropterin synthase | Noen ganger (5–29 %) | I 1 tilstand |
| PYGLglycogen phosphorylase L | Noen ganger (5–29 %) | I 1 tilstand |
| RARS1arginyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| RCC1regulator of chromosome condensation 1 | Noen ganger (5–29 %) | I 1 tilstand |
| RD3RD3 regulator of GUCY2D | Noen ganger (5–29 %) | I 1 tilstand |
| RDH12retinol dehydrogenase 12 | Noen ganger (5–29 %) | I 1 tilstand |
| RECQL4RecQ like helicase 4 | Noen ganger (5–29 %) | I 1 tilstand |
| RNF125ring finger protein 125 | Noen ganger (5–29 %) | I 1 tilstand |
| RPE65retinoid isomerohydrolase RPE65 | Noen ganger (5–29 %) | I 1 tilstand |
| RPGRIP1RPGR interacting protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| RPS6KA3ribosomal protein S6 kinase A3 | Noen ganger (5–29 %) | I 1 tilstand |
| RRAS2RAS related 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SARDHsarcosine dehydrogenase | Noen ganger (5–29 %) | I 1 tilstand |
| SBF2SET binding factor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC12A2solute carrier family 12 member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SPATA7spermatogenesis associated 7 | Noen ganger (5–29 %) | I 1 tilstand |
| SPENspen family transcriptional repressor | Noen ganger (5–29 %) | I 1 tilstand |
| STSsteroid sulfatase | Noen ganger (5–29 %) | I 1 tilstand |
| SYT2synaptotagmin 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TMEM38Btransmembrane protein 38B | Noen ganger (5–29 %) | I 1 tilstand |
| TNFRSF11BTNF receptor superfamily member 11b | Noen ganger (5–29 %) | I 1 tilstand |
| TNPO3transportin 3 | Noen ganger (5–29 %) | I 1 tilstand |
| TRMT1tRNA methyltransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TSPAN12tetraspanin 12 | Noen ganger (5–29 %) | I 1 tilstand |
| TUBB4Btubulin beta 4B class IVb | Noen ganger (5–29 %) | I 1 tilstand |
| TULP1TUB like protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| UPB1beta-ureidopropionase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| USP45ubiquitin specific peptidase 45 | Noen ganger (5–29 %) | I 1 tilstand |
| VMA21vacuolar ATPase assembly factor VMA21 | Noen ganger (5–29 %) | I 1 tilstand |
| VPS13Dvacuolar protein sorting 13 homolog D | Noen ganger (5–29 %) | I 1 tilstand |
| WDR62WD repeat domain 62 | Noen ganger (5–29 %) | I 1 tilstand |
| ZIC1Zic family zinc finger 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ZIC4Zic family zinc finger 4 | Noen ganger (5–29 %) | I 1 tilstand |
| ZNF408zinc finger protein 408 | Noen ganger (5–29 %) | I 1 tilstand |
| ANTXR1ANTXR cell adhesion molecule 1 | Sjelden (1–4%) | I 1 tilstand |
| COL3A1collagen type III alpha 1 chain | Sjelden (1–4%) | I 1 tilstand |
| GBA1glucosylceramidase beta 1 | Sjelden (1–4%) | I 2 tilstander |
| MYRFmyelin regulatory factor | Sjelden (1–4%) | I 1 tilstand |
| NEK1NIMA related kinase 1 | Sjelden (1–4%) | I 1 tilstand |
| SGMS2sphingomyelin synthase 2 | Sjelden (1–4%) | I 1 tilstand |
| SPRED1sprouty related EVH1 domain containing 1 | Sjelden (1–4%) | I 1 tilstand |
| AHCYadenosylhomocysteinase | Ikke registrert | I 1 tilstand |
| AHI1Abelson helper integration site 1 | Ikke registrert | I 1 tilstand |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Ikke registrert | I 1 tilstand |
| ANAPC7anaphase promoting complex subunit 7 | Ikke registrert | I 1 tilstand |
| APTXaprataxin | Ikke registrert | I 1 tilstand |
| ARCN1archain 1 coat protein complex I subunit delta | Ikke registrert | I 1 tilstand |
| ARHGEF2Rho/Rac guanine nucleotide exchange factor 2 | Ikke registrert | I 1 tilstand |
| ARID2AT-rich interaction domain 2 | Ikke registrert | I 1 tilstand |
| ASAH1N-acylsphingosine amidohydrolase 1 | Ikke registrert | I 1 tilstand |
| AUHAU RNA binding methylglutaconyl-CoA hydratase | Ikke registrert | I 1 tilstand |
| CANT1calcium activated nucleotidase 1 | Ikke registrert | I 1 tilstand |
| CDK8cyclin dependent kinase 8 | Ikke registrert | I 1 tilstand |
| CHKBcholine kinase beta | Ikke registrert | I 1 tilstand |
| CHRNA1cholinergic receptor nicotinic alpha 1 subunit | Ikke registrert | I 1 tilstand |
| CHRNEcholinergic receptor nicotinic epsilon subunit | Ikke registrert | I 1 tilstand |
| CHST14carbohydrate sulfotransferase 14 | Ikke registrert | I 1 tilstand |
| CNOT2CCR4-NOT transcription complex subunit 2 | Ikke registrert | I 1 tilstand |
| COQ2coenzyme Q2, polyprenyltransferase | Ikke registrert | I 1 tilstand |
| COQ7coenzyme Q7, hydroxylase | Ikke registrert | I 1 tilstand |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Ikke registrert | I 1 tilstand |
| COX15cytochrome c oxidase assembly factor COX15 | Ikke registrert | I 1 tilstand |
| COX6B1cytochrome c oxidase subunit 6B1 | Ikke registrert | I 1 tilstand |
| CTDP1CTD phosphatase 1 | Ikke registrert | I 1 tilstand |
| CYP2U1cytochrome P450 family 2 subfamily U member 1 | Ikke registrert | I 1 tilstand |
| DCXdoublecortin | Ikke registrert | I 1 tilstand |
| DNM2dynamin 2 | Ikke registrert | I 1 tilstand |
| DPYDdihydropyrimidine dehydrogenase | Ikke registrert | I 1 tilstand |
| EPG5ectopic P-granules 5 autophagy tethering factor | Ikke registrert | I 1 tilstand |
| EXOSC2exosome component 2 | Ikke registrert | I 1 tilstand |
| EXT2exostosin glycosyltransferase 2 | Ikke registrert | I 1 tilstand |
| FASTKD2FASTK mitochondrial RNA regulator 2 | Ikke registrert | I 1 tilstand |
| FBN2fibrillin 2 | Ikke registrert | I 1 tilstand |
| FDX2ferredoxin 2 | Ikke registrert | I 1 tilstand |
| FGFR3fibroblast growth factor receptor 3 | Ikke registrert | I 1 tilstand |
| FLNAfilamin A | Ikke registrert | I 1 tilstand |
| FOXG1forkhead box G1 | Ikke registrert | I 1 tilstand |
| GFM1G elongation factor mitochondrial 1 | Ikke registrert | I 1 tilstand |
| GLE1GLE1 RNA export mediator | Ikke registrert | I 1 tilstand |
| GTF2E2general transcription factor IIE subunit 2 | Ikke registrert | I 1 tilstand |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Ikke registrert | I 1 tilstand |
| HPRT1hypoxanthine phosphoribosyltransferase 1 | Ikke registrert | I 1 tilstand |
| HYCC1hyccin PI4KA lipid kinase complex subunit 1 | Ikke registrert | I 1 tilstand |
| KAT6Blysine acetyltransferase 6B | Ikke registrert | I 1 tilstand |
| KDELR2KDEL endoplasmic reticulum protein retention receptor 2 | Ikke registrert | I 1 tilstand |
| KDM1Alysine demethylase 1A | Ikke registrert | I 1 tilstand |
| KIF7kinesin family member 7 | Ikke registrert | I 1 tilstand |
| KLC2kinesin light chain 2 | Ikke registrert | I 1 tilstand |
| LAMA1laminin subunit alpha 1 | Ikke registrert | I 1 tilstand |
| LMNAlamin A/C | Ikke registrert | I 1 tilstand |
| MAPRE2microtubule associated protein RP/EB family member 2 | Ikke registrert | I 1 tilstand |
| MED12mediator complex subunit 12 | Ikke registrert | I 1 tilstand |
| MEGF10multiple EGF like domains 10 | Ikke registrert | I 1 tilstand |
| MLC1modulator of VRAC current 1 | Ikke registrert | I 1 tilstand |
| MMP13matrix metallopeptidase 13 | Ikke registrert | I 1 tilstand |
| MPDZmultiple PDZ domain crumbs cell polarity complex component | Ikke registrert | I 1 tilstand |
| MT-TNmitochondrially encoded tRNA-Asn (AAU/C) | Ikke registrert | I 1 tilstand |
| MTM1myotubularin 1 | Ikke registrert | I 1 tilstand |
| MTMR14myotubularin related protein 14 | Ikke registrert | I 1 tilstand |
| MTMR2myotubularin related protein 2 | Ikke registrert | I 1 tilstand |
| MUSKmuscle associated receptor tyrosine kinase | Ikke registrert | I 1 tilstand |
| MYL1myosin light chain 1 | Ikke registrert | I 1 tilstand |
| MYO9Amyosin IXA | Ikke registrert | I 1 tilstand |
| NANSN-acetylneuraminate synthase | Ikke registrert | I 1 tilstand |
| NONOnon-POU domain containing octamer binding | Ikke registrert | I 1 tilstand |
| OPA1OPA1 mitochondrial dynamin like GTPase | Ikke registrert | I 1 tilstand |
| PAX7paired box 7 | Ikke registrert | I 1 tilstand |
| PBX1PBX homeobox 1 | Ikke registrert | I 1 tilstand |
| PNKPpolynucleotide kinase 3'-phosphatase | Ikke registrert | I 1 tilstand |
| PNPpurine nucleoside phosphorylase | Ikke registrert | I 1 tilstand |
| PREPLprolyl endopeptidase like | Ikke registrert | I 1 tilstand |
| PTCH1patched 1 | Ikke registrert | I 1 tilstand |
| PTPRQprotein tyrosine phosphatase receptor type Q | Ikke registrert | I 1 tilstand |
| RBM8ARNA binding motif protein 8A | Ikke registrert | I 1 tilstand |
| RIPK4receptor interacting serine/threonine kinase 4 | Ikke registrert | I 1 tilstand |
| RORARAR related orphan receptor A | Ikke registrert | I 1 tilstand |
| SAMD9sterile alpha motif domain containing 9 | Ikke registrert | I 1 tilstand |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Ikke registrert | I 1 tilstand |
| SCO1synthesis of cytochrome C oxidase 1 | Ikke registrert | I 1 tilstand |
| SH3TC2SH3 domain and tetratricopeptide repeats 2 | Ikke registrert | I 1 tilstand |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Ikke registrert | I 1 tilstand |
| SLC1A3solute carrier family 1 member 3 | Ikke registrert | I 1 tilstand |
| SLC25A1solute carrier family 25 member 1 | Ikke registrert | I 1 tilstand |
| SLC6A8solute carrier family 6 member 8 | Ikke registrert | I 1 tilstand |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Ikke registrert | I 1 tilstand |
| SURF1SURF1 cytochrome c oxidase assembly factor | Ikke registrert | I 1 tilstand |
| TACO1translational activator of cytochrome c oxidase I | Ikke registrert | I 1 tilstand |
| TCF4transcription factor 4 | Ikke registrert | I 1 tilstand |
| TENT5Aterminal nucleotidyltransferase 5A | Ikke registrert | I 1 tilstand |
| TKFCtriokinase and FMN cyclase | Ikke registrert | I 1 tilstand |
| TMCO1transmembrane and coiled-coil domains 1 | Ikke registrert | I 1 tilstand |
| TNFRSF11ATNF receptor superfamily member 11a | Ikke registrert | I 1 tilstand |
| TRIP11thyroid hormone receptor interactor 11 | Ikke registrert | I 1 tilstand |
| TRMT10AtRNA methyltransferase 10A | Ikke registrert | I 1 tilstand |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Ikke registrert | I 1 tilstand |
| TUBA1Atubulin alpha 1a | Ikke registrert | I 1 tilstand |
| TUBBtubulin beta class I | Ikke registrert | I 1 tilstand |
| VDRvitamin D receptor | Ikke registrert | I 1 tilstand |
| VPS13Bvacuolar protein sorting 13 homolog B | Ikke registrert | I 1 tilstand |
| ZEB2zinc finger E-box binding homeobox 2 | 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 2026.10.16-c6eea6bf.
Én test. En livstid med svar.
Fra 449 $Gratis frakt · Resultater på 6–8 uker