Træk
Motor delay
A type of Developmental delay characterized by a delay in acquiring motor skills.
Resumé
- Også kaldet
- 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
- Kropssystem
- Abnormality of the nervous system
ReferencegenomGRCh38hg38
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Ændringer i disse gener forårsager sjældne tilstande, hvor Motor delay ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| ABCC8ATP binding cassette subfamily C member 8 | Altid | I 2 tilstande |
| ACADSBacyl-CoA dehydrogenase short/branched chain | Altid | I 1 tilstand |
| ACBD5acyl-CoA binding domain containing 5 | Altid | I 1 tilstand |
| ACTBactin beta | Altid | I 1 tilstand |
| ADAadenosine deaminase | Altid | I 1 tilstand |
| ADARB1adenosine deaminase RNA specific B1 | Altid | I 1 tilstand |
| AGO2argonaute RISC catalytic component 2 | Altid | I 1 tilstand |
| AGTPBP1ATP/GTP binding carboxypeptidase 1 | Altid | I 2 tilstande |
| AHDC1AT-hook DNA binding motif containing 1 | Altid | I 2 tilstande |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Altid | I 3 tilstande |
| AMFRautocrine motility factor receptor | Altid | I 1 tilstand |
| AP3B1adaptor related protein complex 3 subunit beta 1 | Altid | I 1 tilstand |
| ASPMassembly factor for spindle microtubules | Altid | I 1 tilstand |
| ATP2A1ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 | Altid | I 1 tilstand |
| ATP2B3ATPase plasma membrane Ca2+ transporting 3 | Altid | I 2 tilstande |
| ATP6V1AATPase H+ transporting V1 subunit A | Altid | I 2 tilstande |
| ATP9AATPase phospholipid transporting 9A | Altid | I 1 tilstand |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Altid | I 1 tilstand |
| BAIAP2BAR/IMD domain containing adaptor protein 2 | Altid | I 1 tilstand |
| BCKDKbranched chain keto acid dehydrogenase kinase | Altid | I 1 tilstand |
| BCORBCL6 corepressor | Altid | I 2 tilstande |
| CACNA1Scalcium voltage-gated channel subunit alpha1 S | Altid | I 1 tilstand |
| CDK13cyclin dependent kinase 13 | Altid | I 1 tilstand |
| CEP295centrosomal protein 295 | Altid | I 1 tilstand |
| CFL2cofilin 2 | Altid | I 1 tilstand |
| CHAMP1chromosome alignment maintaining phosphoprotein 1 | Altid | I 1 tilstand |
| CHD7chromodomain helicase DNA binding protein 7 | Altid | I 1 tilstand |
| CHRNDcholinergic receptor nicotinic delta subunit | Altid | I 1 tilstand |
| CHST3carbohydrate sulfotransferase 3 | Altid | I 2 tilstande |
| CICcapicua transcriptional repressor | Altid | I 1 tilstand |
| CLCN6Cl-/H+ antiporter 6 | Altid | I 1 tilstand |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Altid | I 1 tilstand |
| COG5component of oligomeric golgi complex 5 | Altid | I 2 tilstande |
| COL12A1collagen type XII alpha 1 chain | Altid | I 3 tilstande |
| COL6A1collagen type VI alpha 1 chain | Altid | I 2 tilstande |
| COL6A2collagen type VI alpha 2 chain | Altid | I 1 tilstand |
| CPEcarboxypeptidase E | Altid | I 1 tilstand |
| CPT1Acarnitine palmitoyltransferase 1A | Altid | I 1 tilstand |
| CRATcarnitine O-acetyltransferase | Altid | I 1 tilstand |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Altid | I 1 tilstand |
Vis 728 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| CTBP1C-terminal binding protein 1 | Altid | I 1 tilstand |
| CUL3cullin 3 | Altid | I 1 tilstand |
| CUL4Bcullin 4B | Altid | I 1 tilstand |
| DAGLAdiacylglycerol lipase alpha | Altid | I 1 tilstand |
| DEAF1DEAF1 transcription factor | Altid | I 2 tilstande |
| DHRS3dehydrogenase/reductase 3 | Altid | I 1 tilstand |
| DHX30DExH-box helicase 30 | Altid | I 1 tilstand |
| DLG3discs large MAGUK scaffold protein 3 | Altid | I 1 tilstand |
| DMXL2Dmx like 2 | Altid | I 1 tilstand |
| DNASE2deoxyribonuclease 2, lysosomal | Altid | I 1 tilstand |
| DPM3dolichyl-phosphate mannosyltransferase subunit 3, regulatory | Altid | I 1 tilstand |
| DSTdystonin | Altid | I 2 tilstande |
| DYNC1I2dynein cytoplasmic 1 intermediate chain 2 | Altid | I 1 tilstand |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Altid | I 1 tilstand |
| EGR2early growth response 2 | Altid | I 2 tilstande |
| ELOVL1ELOVL fatty acid elongase 1 | Altid | I 1 tilstand |
| ERI1exoribonuclease 1 | Altid | I 1 tilstand |
| FBN1fibrillin 1 | Altid | I 2 tilstande |
| FDXRferredoxin reductase | Altid | I 1 tilstand |
| FGD4FYVE, RhoGEF and PH domain containing 4 | Altid | I 1 tilstand |
| FITM2fat storage inducing transmembrane protein 2 | Altid | I 1 tilstand |
| FKBP14FKBP prolyl isomerase 14 | Altid | I 2 tilstande |
| FKTNfukutin | Altid | I 3 tilstande |
| FOXP1forkhead box P1 | Altid | I 2 tilstande |
| FRMD5FERM domain containing 5 | Altid | I 1 tilstand |
| FXR1FMR1 autosomal homolog 1 | Altid | I 2 tilstande |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Altid | I 1 tilstand |
| GALNSgalactosamine (N-acetyl)-6-sulfatase | Altid | I 1 tilstand |
| GANgigaxonin | Altid | I 1 tilstand |
| GARS1glycyl-tRNA synthetase 1 | Altid | I 1 tilstand |
| GEMIN5gem nuclear organelle associated protein 5 | Altid | I 1 tilstand |
| GFPT1glutamine--fructose-6-phosphate transaminase 1 | Altid | I 3 tilstande |
| GGPS1geranylgeranyl diphosphate synthase 1 | Altid | I 1 tilstand |
| GJC2gap junction protein gamma 2 | Altid | I 1 tilstand |
| GLRBglycine receptor beta | Altid | I 1 tilstand |
| GTPBP1GTP binding protein 1 | Altid | I 1 tilstand |
| GTPBP2GTP binding protein 2 | Altid | I 1 tilstand |
| GUSBglucuronidase beta | Altid | I 1 tilstand |
| HACD13-hydroxyacyl-CoA dehydratase 1 | Altid | I 2 tilstande |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Altid | I 1 tilstand |
| HIBCH3-hydroxyisobutyryl-CoA hydrolase | Altid | I 2 tilstande |
| HID1HID1 domain containing | Altid | I 1 tilstand |
| HNRNPA2B1heterogeneous nuclear ribonucleoprotein A2/B1 | Altid | I 1 tilstand |
| HPDL4-hydroxyphenylpyruvate dioxygenase like | Altid | I 1 tilstand |
| HS2ST1heparan sulfate 2-O-sulfotransferase 1 | Altid | I 1 tilstand |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Altid | I 2 tilstande |
| IFT52intraflagellar transport 52 | Altid | I 1 tilstand |
| IFT74intraflagellar transport 74 | Altid | I 1 tilstand |
| IGF1insulin like growth factor 1 | Altid | I 2 tilstande |
| IL1RNinterleukin 1 receptor antagonist | Altid | I 1 tilstand |
| IL37interleukin 37 | Altid | I 1 tilstand |
| INTS11integrator complex subunit 11 | Altid | I 1 tilstand |
| IPO8importin 8 | Altid | I 1 tilstand |
| IQSEC1IQ motif and Sec7 domain ArfGEF 1 | Altid | I 1 tilstand |
| ITCHitchy E3 ubiquitin protein ligase | Altid | I 1 tilstand |
| ITGA7integrin subunit alpha 7 | Altid | I 2 tilstande |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Altid | I 3 tilstande |
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Altid | I 1 tilstand |
| JKAMPJNK1/MAPK8 associated membrane protein | Altid | I 1 tilstand |
| KARS1lysyl-tRNA synthetase 1 | Altid | I 1 tilstand |
| KATNB1katanin regulatory subunit B1 | Altid | I 1 tilstand |
| KDM5Clysine demethylase 5C | Altid | I 1 tilstand |
| KPNA3karyopherin subunit alpha 3 | Altid | I 1 tilstand |
| LAMA2laminin subunit alpha 2 | Altid | I 3 tilstande |
| LAMB1laminin subunit beta 1 | Altid | I 1 tilstand |
| LGI1leucine rich glioma inactivated 1 | Altid | I 1 tilstand |
| LIASlipoic acid synthetase | Altid | I 1 tilstand |
| LIG1DNA ligase 1 | Altid | I 1 tilstand |
| LINGO1leucine rich repeat and Ig domain containing 1 | Altid | I 1 tilstand |
| MADDMAP kinase activating death domain | Altid | I 2 tilstande |
| MAN1B1mannosidase alpha class 1B member 1 | Altid | I 1 tilstand |
| MAN2C1mannosidase alpha class 2C member 1 | Altid | I 1 tilstand |
| MARS1methionyl-tRNA synthetase 1 | Altid | I 2 tilstande |
| MAU2MAU2 sister chromatid cohesion factor | Altid | I 1 tilstand |
| MBD5methyl-CpG binding domain protein 5 | Altid | I 1 tilstand |
| MCEEmethylmalonyl-CoA epimerase | Altid | I 1 tilstand |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Altid | I 1 tilstand |
| MEF2Cmyocyte enhancer factor 2C | Altid | I 1 tilstand |
| MFFmitochondrial fission factor | Altid | I 2 tilstande |
| MICU1mitochondrial calcium uptake 1 | Altid | I 1 tilstand |
| MLIPmuscular LMNA interacting protein | Altid | I 1 tilstand |
| MPZmyelin protein zero | Altid | I 4 tilstande |
| MRPS25mitochondrial ribosomal protein S25 | Altid | I 1 tilstand |
| MSL2MSL complex subunit 2 | Altid | I 1 tilstand |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Altid | I 1 tilstand |
| MYH3myosin heavy chain 3 | Altid | I 1 tilstand |
| MYMKmyomaker, myoblast fusion factor | Altid | I 1 tilstand |
| MYOD1myogenic differentiation 1 | Altid | I 1 tilstand |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Altid | I 1 tilstand |
| NALCNsodium leak channel, non-selective | Altid | I 2 tilstande |
| NDRG1N-myc downstream regulated 1 | Altid | I 2 tilstande |
| NDUFA12NADH:ubiquinone oxidoreductase subunit A12 | Altid | I 1 tilstand |
| NIPBLNIPBL cohesin loading factor | Altid | I 1 tilstand |
| NKX2-1NK2 homeobox 1 | Altid | I 3 tilstande |
| NKX6-2NK6 homeobox 2 | Altid | I 1 tilstand |
| NOVA2NOVA alternative splicing regulator 2 | Altid | I 1 tilstand |
| NRAPnebulin related anchoring protein | Altid | I 1 tilstand |
| NT5C25'-nucleotidase, cytosolic II | Altid | I 2 tilstande |
| NTNG2netrin G2 | Altid | I 1 tilstand |
| NUDT2nudix hydrolase 2 | Altid | I 1 tilstand |
| NUP54nucleoporin 54 | Altid | I 1 tilstand |
| OFD1OFD1 centriole and centriolar satellite protein | Altid | I 1 tilstand |
| PAK1p21 (RAC1) activated kinase 1 | Altid | I 1 tilstand |
| PET117PET117 cytochrome c oxidase chaperone | Altid | I 1 tilstand |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Altid | I 1 tilstand |
| PGAP2post-GPI attachment to proteins 2 | Altid | I 1 tilstand |
| PI4K2Aphosphatidylinositol 4-kinase type 2 alpha | Altid | I 1 tilstand |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Altid | I 1 tilstand |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Altid | I 1 tilstand |
| PMP22peripheral myelin protein 22 | Altid | I 2 tilstande |
| POLR1ARNA polymerase I subunit A | Altid | I 1 tilstand |
| POLR3GLRNA polymerase III subunit GL | Altid | I 1 tilstand |
| POMKprotein O-mannose kinase | Altid | I 1 tilstand |
| PPIL1peptidylprolyl isomerase like 1 | Altid | I 1 tilstand |
| PRDM13PR/SET domain 13 | Altid | I 2 tilstande |
| PRR12proline rich 12 | Altid | I 1 tilstand |
| PRXperiaxin | Altid | I 2 tilstande |
| PSMB1proteasome 20S subunit beta 1 | Altid | I 1 tilstand |
| PSMG2proteasome assembly chaperone 2 | Altid | I 1 tilstand |
| PTBP1polypyrimidine tract binding protein 1 | Altid | I 1 tilstand |
| PTH1Rparathyroid hormone 1 receptor | Altid | I 1 tilstand |
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Altid | I 1 tilstand |
| PTRH2peptidyl-tRNA hydrolase 2 | Altid | I 2 tilstande |
| PYCR1pyrroline-5-carboxylate reductase 1 | Altid | I 1 tilstand |
| RALGAPA1Ral GTPase activating protein catalytic subunit alpha 1 | Altid | I 1 tilstand |
| RAP1GDS1Rap1 GTPase-GDP dissociation stimulator 1 | Altid | I 1 tilstand |
| RBSNrabenosyn, RAB effector | Altid | I 1 tilstand |
| RNU4-2RNA, U4 small nuclear 2 | Altid | I 1 tilstand |
| RSPRY1ring finger and SPRY domain containing 1 | Altid | I 2 tilstande |
| RSRC1arginine and serine rich coiled-coil 1 | Altid | I 1 tilstand |
| RTN2reticulon 2 | Altid | I 1 tilstand |
| RUBCNrubicon autophagy regulator | Altid | I 1 tilstand |
| RYR1ryanodine receptor 1 | Altid | I 8 tilstande |
| SCN11Asodium voltage-gated channel alpha subunit 11 | Altid | I 1 tilstand |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Altid | I 3 tilstande |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Altid | I 1 tilstand |
| SELENOIselenoprotein I | Altid | I 1 tilstand |
| SERPINF1serpin family F member 1 | Altid | I 1 tilstand |
| SLC12A6solute carrier family 12 member 6 | Altid | I 2 tilstande |
| SLC25A42solute carrier family 25 member 42 | Altid | I 1 tilstand |
| SLC32A1solute carrier family 32 member 1 | Altid | I 1 tilstand |
| SLC5A7solute carrier family 5 member 7 | Altid | I 1 tilstand |
| SLC9A1solute carrier family 9 member A1 | Altid | I 1 tilstand |
| SOX5SRY-box transcription factor 5 | Altid | I 1 tilstand |
| SP7Sp7 transcription factor | Altid | I 1 tilstand |
| SPARTspartin | Altid | I 2 tilstande |
| SPEGstriated muscle enriched protein kinase | Altid | I 2 tilstande |
| SPOPspeckle type BTB/POZ protein | Altid | I 2 tilstande |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Altid | I 2 tilstande |
| SPTBN2spectrin beta, non-erythrocytic 2 | Altid | I 1 tilstand |
| SPTBN4spectrin beta, non-erythrocytic 4 | Altid | I 1 tilstand |
| SRD5A3steroid 5 alpha-reductase 3 | Altid | I 2 tilstande |
| STAC3SH3 and cysteine rich domain 3 | Altid | I 2 tilstande |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Altid | I 1 tilstand |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Altid | I 1 tilstand |
| SUPT7LSPT7 like, STAGA complex subunit gamma | Altid | I 1 tilstand |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Altid | I 1 tilstand |
| TAFAZZINtafazzin, phospholipid-lysophospholipid transacylase | Altid | I 1 tilstand |
| TANGO2transport and golgi organization 2 homolog | Altid | I 1 tilstand |
| TBK1TANK binding kinase 1 | Altid | I 1 tilstand |
| TCF20transcription factor 20 | Altid | I 1 tilstand |
| THG1LtRNA-histidine guanylyltransferase 1 like | Altid | I 1 tilstand |
| TLK2tousled like kinase 2 | Altid | I 1 tilstand |
| TMEM107transmembrane protein 107 | Altid | I 1 tilstand |
| TMEM147transmembrane protein 147 | Altid | I 1 tilstand |
| TMEM222transmembrane protein 222 | Altid | I 1 tilstand |
| TNRtenascin R | Altid | I 1 tilstand |
| TOR1Atorsin family 1 member A | Altid | I 1 tilstand |
| TPM2tropomyosin 2 | Altid | I 4 tilstande |
| TRIOtrio Rho guanine nucleotide exchange factor | Altid | I 1 tilstand |
| TRIP4thyroid hormone receptor interactor 4 | Altid | I 2 tilstande |
| TTNtitin | Altid | I 2 tilstande |
| TUBA4Atubulin alpha 4a | Altid | I 1 tilstand |
| TUBB2Btubulin beta 2B class IIb | Altid | I 1 tilstand |
| UBA2ubiquitin like modifier activating enzyme 2 | Altid | I 1 tilstand |
| UBAP2Lubiquitin associated protein 2 like | Altid | I 1 tilstand |
| UBE3Aubiquitin protein ligase E3A | Altid | I 1 tilstand |
| UBE3Bubiquitin protein ligase E3B | Altid | I 1 tilstand |
| UBE3Cubiquitin protein ligase E3C | Altid | I 1 tilstand |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Altid | I 1 tilstand |
| UNC13Aunc-13 homolog A | Altid | I 2 tilstande |
| UQCRFS1ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 | Altid | I 1 tilstand |
| VAMP1vesicle associated membrane protein 1 | Altid | I 1 tilstand |
| VARS1valyl-tRNA synthetase 1 | Altid | I 1 tilstand |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Altid | I 1 tilstand |
| VPS4Avacuolar protein sorting 4 homolog A | Altid | I 1 tilstand |
| VRK1VRK serine/threonine kinase 1 | Altid | I 3 tilstande |
| WBP4WW domain binding protein 4 | Altid | I 1 tilstand |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Altid | I 1 tilstand |
| YME1L1YME1 like 1 ATPase | Altid | I 1 tilstand |
| YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | Altid | I 1 tilstand |
| YY1YY1 transcription factor | Altid | I 1 tilstand |
| ZMYND11zinc finger MYND-type containing 11 | Altid | I 1 tilstand |
| ZSCAN10zinc finger and SCAN domain containing 10 | Altid | I 1 tilstand |
| ZSWIM6zinc finger SWIM-type containing 6 | Altid | I 1 tilstand |
| ADGRG1adhesion G protein-coupled receptor G1 | Meget ofte (80–99 %) | I 1 tilstand |
| AGO1argonaute RISC component 1 | Meget ofte (80–99 %) | I 1 tilstand |
| ARPC4actin related protein 2/3 complex subunit 4 | Meget ofte (80–99 %) | I 1 tilstand |
| ASPAaspartoacylase | Meget ofte (80–99 %) | I 2 tilstande |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Meget ofte (80–99 %) | I 2 tilstande |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Meget ofte (80–99 %) | I 1 tilstand |
| BCL11BBCL11 transcription factor B | Meget ofte (80–99 %) | I 1 tilstand |
| BPTFbromodomain PHD finger transcription factor | Meget ofte (80–99 %) | I 1 tilstand |
| CHD8chromodomain helicase DNA binding protein 8 | Meget ofte (80–99 %) | I 1 tilstand |
| CILK1ciliogenesis associated kinase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| COG4component of oligomeric golgi complex 4 | Meget ofte (80–99 %) | I 1 tilstand |
| COL1A1collagen type I alpha 1 chain | Meget ofte (80–99 %) | I 2 tilstande |
| COL1A2collagen type I alpha 2 chain | Meget ofte (80–99 %) | I 1 tilstand |
| CTNNB1catenin beta 1 | Meget ofte (80–99 %) | I 2 tilstande |
| CYP27B1cytochrome P450 family 27 subfamily B member 1 | Meget ofte (80–99 %) | I 2 tilstande |
| CYP2R1cytochrome P450 family 2 subfamily R member 1 | Meget ofte (80–99 %) | I 1 tilstand |
| DLK1delta like non-canonical Notch ligand 1 | Meget ofte (80–99 %) | I 3 tilstande |
| DMDdystrophin | Meget ofte (80–99 %) | I 1 tilstand |
| EBF3EBF transcription factor 3 | Meget ofte (80–99 %) | I 1 tilstand |
| EXOSC3exosome component 3 | Meget ofte (80–99 %) | I 1 tilstand |
| EXOSC8exosome component 8 | Meget ofte (80–99 %) | I 1 tilstand |
| EXOSC9exosome component 9 | Meget ofte (80–99 %) | I 1 tilstand |
| EXTL3exostosin like glycosyltransferase 3 | Meget ofte (80–99 %) | I 2 tilstande |
| FBXW11F-box and WD repeat domain containing 11 | Meget ofte (80–99 %) | I 1 tilstand |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Meget ofte (80–99 %) | I 1 tilstand |
| HDAC4histone deacetylase 4 | Meget ofte (80–99 %) | I 1 tilstand |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Meget ofte (80–99 %) | I 1 tilstand |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| INPP5Kinositol polyphosphate-5-phosphatase K | Meget ofte (80–99 %) | I 1 tilstand |
| KCNN2potassium calcium-activated channel subfamily N member 2 | Meget ofte (80–99 %) | I 1 tilstand |
| KDM2Blysine demethylase 2B | Meget ofte (80–99 %) | I 1 tilstand |
| KDM3Blysine demethylase 3B | Meget ofte (80–99 %) | I 1 tilstand |
| KDM6Blysine demethylase 6B | Meget ofte (80–99 %) | I 1 tilstand |
| LMBRD2LMBR1 domain containing 2 | Meget ofte (80–99 %) | I 1 tilstand |
| LMX1BLIM homeobox transcription factor 1 beta | Meget ofte (80–99 %) | I 1 tilstand |
| LONP1lon peptidase 1, mitochondrial | Meget ofte (80–99 %) | I 1 tilstand |
| LTBP4latent transforming growth factor beta binding protein 4 | Meget ofte (80–99 %) | I 1 tilstand |
| MAGEL2MAGE family member L2 | Meget ofte (80–99 %) | I 2 tilstande |
| MED13Lmediator complex subunit 13L | Meget ofte (80–99 %) | I 2 tilstande |
| MED27mediator complex subunit 27 | Meget ofte (80–99 %) | I 1 tilstand |
| MEG3maternally expressed 3 | Meget ofte (80–99 %) | I 3 tilstande |
| MKRN3makorin ring finger protein 3 | Meget ofte (80–99 %) | I 1 tilstand |
| MN1MN1 proto-oncogene, transcriptional regulator | Meget ofte (80–99 %) | I 1 tilstand |
| NAA15N-alpha-acetyltransferase 15, NatA auxiliary subunit | Meget ofte (80–99 %) | I 1 tilstand |
| NPAP1nuclear pore associated protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| PPFIBP1PPFIB scaffold protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| PWAR1Prader Willi/Angelman region RNA 1 | Meget ofte (80–99 %) | I 1 tilstand |
| PWRN1Prader-Willi region non-protein coding RNA 1 | Meget ofte (80–99 %) | I 1 tilstand |
| QRICH1glutamine rich 1 | Meget ofte (80–99 %) | I 1 tilstand |
| RFX7regulatory factor X7 | Meget ofte (80–99 %) | I 1 tilstand |
| RMP64ribonuclease MRP subunit p64 | Meget ofte (80–99 %) | I 1 tilstand |
| RNU2-2RNA, U2 small nuclear 2 | Meget ofte (80–99 %) | I 1 tilstand |
| RTL1retrotransposon Gag like 1 | Meget ofte (80–99 %) | I 3 tilstande |
| SATB1SATB homeobox 1 | Meget ofte (80–99 %) | I 2 tilstande |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Meget ofte (80–99 %) | I 1 tilstand |
| SETBP1SET binding protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| SETD1ASET domain containing 1A, histone lysine methyltransferase | Meget ofte (80–99 %) | I 1 tilstand |
| SH3PXD2BSH3 and PX domains 2B | Meget ofte (80–99 %) | I 1 tilstand |
| SIAH1siah E3 ubiquitin protein ligase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| SIM1SIM bHLH transcription factor 1 | Meget ofte (80–99 %) | I 1 tilstand |
| SLC25A46solute carrier family 25 member 46 | Meget ofte (80–99 %) | I 1 tilstand |
| SLC6A1solute carrier family 6 member 1 | Meget ofte (80–99 %) | I 1 tilstand |
| SLC6A11solute carrier family 6 member 11 | Meget ofte (80–99 %) | I 1 tilstand |
| SNORD115-1small nucleolar RNA, C/D box 115-1 | Meget ofte (80–99 %) | I 1 tilstand |
| SNORD116-1small nucleolar RNA, C/D box 116-1 | Meget ofte (80–99 %) | I 1 tilstand |
| SNUPNsnurportin 1 | Meget ofte (80–99 %) | I 1 tilstand |
| SPG21SPG21 abhydrolase domain containing, maspardin | Meget ofte (80–99 %) | I 1 tilstand |
| SPTBN1spectrin beta, non-erythrocytic 1 | Meget ofte (80–99 %) | I 1 tilstand |
| SRPK3SRSF protein kinase 3 | Meget ofte (80–99 %) | I 1 tilstand |
| STXBP1syntaxin binding protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Meget ofte (80–99 %) | I 2 tilstande |
| SYT1synaptotagmin 1 | Meget ofte (80–99 %) | I 1 tilstand |
| TBCBtubulin folding cofactor B | Meget ofte (80–99 %) | I 1 tilstand |
| TBCKTBC1 domain containing kinase | Meget ofte (80–99 %) | I 1 tilstand |
| TMEM94transmembrane protein 94 | Meget ofte (80–99 %) | I 1 tilstand |
| TRIP12thyroid hormone receptor interactor 12 | Meget ofte (80–99 %) | I 1 tilstand |
| VPS41VPS41 subunit of HOPS complex | Meget ofte (80–99 %) | I 1 tilstand |
| WACWW domain containing adaptor with coiled-coil | Meget ofte (80–99 %) | I 2 tilstande |
| WDR73WD repeat domain 73 | Meget ofte (80–99 %) | I 1 tilstand |
| WWOXWW domain containing oxidoreductase | Meget ofte (80–99 %) | I 1 tilstand |
| ZBTB24zinc finger and BTB domain containing 24 | Meget ofte (80–99 %) | I 1 tilstand |
| ZBTB7Azinc finger and BTB domain containing 7A | Meget ofte (80–99 %) | I 1 tilstand |
| ZNF592zinc finger protein 592 | Meget 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 tilstande |
| ADA2adenosine deaminase 2 | Ofte (30–79 %) | I 1 tilstand |
| ADAMTS2ADAM metallopeptidase with thrombospondin type 1 motif 2 | Ofte (30–79 %) | I 2 tilstande |
| ADCY5adenylate cyclase 5 | Ofte (30–79 %) | I 2 tilstande |
| AEBP1AE binding protein 1 | Ofte (30–79 %) | I 2 tilstande |
| AGKacylglycerol kinase | Ofte (30–79 %) | I 1 tilstand |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Ofte (30–79 %) | I 2 tilstande |
| 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 tilstande |
| 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 tilstande |
| 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 tilstande |
| BIN1bridging integrator 1 | Ofte (30–79 %) | I 2 tilstande |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Ofte (30–79 %) | I 1 tilstand |
| BSNDbarttin CLCNK type accessory subunit beta | Ofte (30–79 %) | I 2 tilstande |
| 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 tilstande |
| CLCNKBchloride voltage-gated channel Kb | Ofte (30–79 %) | I 2 tilstande |
| 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 tilstande |
| 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 tilstande |
| FILIP1filamin A interacting protein 1 | Ofte (30–79 %) | I 1 tilstand |
| FKRPfukutin related protein | Ofte (30–79 %) | I 5 tilstande |
| 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 tilstande |
| GHRgrowth hormone receptor | Ofte (30–79 %) | I 1 tilstand |
| GJB1gap junction protein beta 1 | Ofte (30–79 %) | I 2 tilstande |
| GMNNgeminin DNA replication inhibitor | Ofte (30–79 %) | I 1 tilstand |
| GMPPBGDP-mannose pyrophosphorylase B | Ofte (30–79 %) | I 4 tilstande |
| 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 tilstande |
| HMGA2high mobility group AT-hook 2 | Ofte (30–79 %) | I 1 tilstand |
| IGF1Rinsulin like growth factor 1 receptor | Ofte (30–79 %) | I 2 tilstande |
| IGF2insulin like growth factor 2 | Ofte (30–79 %) | I 4 tilstande |
| 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 tilstande |
| 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 tilstande |
| 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 tilstande |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Ofte (30–79 %) | I 2 tilstande |
| 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 tilstande |
| 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 tilstande |
| 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 tilstande |
| MYPNmyopalladin | Ofte (30–79 %) | I 2 tilstande |
| 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 tilstande |
| NEFLneurofilament light chain | Ofte (30–79 %) | I 5 tilstande |
| NFIBnuclear factor I B | Ofte (30–79 %) | I 1 tilstand |
| NFIXnuclear factor I X | Ofte (30–79 %) | I 3 tilstande |
| 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 tilstande |
| 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 tilstande |
| 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 tilstande |
| PCDH19protocadherin 19 | Ofte (30–79 %) | I 1 tilstand |
| PDE10Aphosphodiesterase 10A | Ofte (30–79 %) | I 2 tilstande |
| 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 tilstande |
| 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 tilstande |
| POMT2protein O-mannosyltransferase 2 | Ofte (30–79 %) | I 3 tilstande |
| PPP1R13Lprotein phosphatase 1 regulatory subunit 13 like | Ofte (30–79 %) | I 1 tilstand |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Ofte (30–79 %) | I 3 tilstande |
| 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 tilstande |
| 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 tilstande |
| 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 tilstande |
| 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 tilstande |
| TNNC2troponin C2, fast skeletal type | Ofte (30–79 %) | I 1 tilstand |
| TNNT1troponin T1, slow skeletal type | Ofte (30–79 %) | I 2 tilstande |
| TPM3tropomyosin 3 | Ofte (30–79 %) | I 5 tilstande |
| 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 tilstande |
| 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 tilstande |
| 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 | Nogle gange (5–29 %) | I 1 tilstand |
| ACAT1acetyl-CoA acetyltransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ACP5acid phosphatase 5, tartrate resistant | Nogle gange (5–29 %) | I 1 tilstand |
| ADAMTSL2ADAMTS like 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ADNPactivity dependent neuroprotector homeobox | Nogle gange (5–29 %) | I 1 tilstand |
| AGR2anterior gradient 2, protein disulphide isomerase family member | Nogle gange (5–29 %) | I 1 tilstand |
| AIPL1AIP like 1 HSP90 co-chaperone | Nogle gange (5–29 %) | I 1 tilstand |
| ALDOAaldolase, fructose-bisphosphate A | Nogle gange (5–29 %) | I 1 tilstand |
| ALMS1ALMS1 centrosome and basal body associated protein | Nogle gange (5–29 %) | I 1 tilstand |
| ASLargininosuccinate lyase | Nogle gange (5–29 %) | I 1 tilstand |
| ATL1atlastin GTPase 1 | Nogle gange (5–29 %) | I 2 tilstande |
| BMPR1Abone morphogenetic protein receptor type 1A | Nogle gange (5–29 %) | I 1 tilstand |
| CABP4calcium binding protein 4 | Nogle gange (5–29 %) | I 1 tilstand |
| CEP290centrosomal protein 290 | Nogle gange (5–29 %) | I 1 tilstand |
| COL2A1collagen type II alpha 1 chain | Nogle gange (5–29 %) | I 2 tilstande |
| COL5A1collagen type V alpha 1 chain | Nogle gange (5–29 %) | I 1 tilstand |
| COL5A2collagen type V alpha 2 chain | Nogle gange (5–29 %) | I 1 tilstand |
| CRB1crumbs cell polarity complex component 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CRXcone-rod homeobox | Nogle gange (5–29 %) | I 1 tilstand |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Nogle gange (5–29 %) | I 2 tilstande |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Nogle gange (5–29 %) | I 1 tilstand |
| DOLKdolichol kinase | Nogle gange (5–29 %) | I 1 tilstand |
| EHMT1euchromatic histone lysine methyltransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ELNelastin | Nogle gange (5–29 %) | I 1 tilstand |
| EPRS1glutamyl-prolyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| FIG4FIG4 phosphoinositide 5-phosphatase | Nogle gange (5–29 %) | I 1 tilstand |
| FLGfilaggrin | Nogle gange (5–29 %) | I 1 tilstand |
| FZD4frizzled class receptor 4 | Nogle gange (5–29 %) | I 1 tilstand |
| GALK1galactokinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GBF1golgi brefeldin A resistant guanine nucleotide exchange factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GDF6growth differentiation factor 6 | Nogle gange (5–29 %) | I 1 tilstand |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Nogle gange (5–29 %) | I 1 tilstand |
| GRIK2glutamate ionotropic receptor kainate type subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GRM1glutamate metabotropic receptor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GUCY2Dguanylate cyclase 2D, retinal | Nogle gange (5–29 %) | I 1 tilstand |
| H19H19 imprinted maternally expressed transcript | Nogle gange (5–29 %) | I 2 tilstande |
| H4C5H4 clustered histone 5 | Nogle gange (5–29 %) | I 1 tilstand |
| HADHhydroxyacyl-CoA dehydrogenase | Nogle gange (5–29 %) | I 1 tilstand |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Nogle gange (5–29 %) | I 1 tilstand |
| HADHBhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | Nogle gange (5–29 %) | I 1 tilstand |
| HNMThistamine N-methyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Nogle gange (5–29 %) | I 1 tilstand |
| IDH1isocitrate dehydrogenase (NADP(+)) 1 | Nogle gange (5–29 %) | I 1 tilstand |
| IFT140intraflagellar transport 140 | Nogle gange (5–29 %) | I 1 tilstand |
| IMPDH1inosine monophosphate dehydrogenase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| IQCB1IQ motif containing B1 | Nogle gange (5–29 %) | I 1 tilstand |
| IVDisovaleryl-CoA dehydrogenase | Nogle gange (5–29 %) | I 1 tilstand |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNJ13potassium inwardly rectifying channel subfamily J member 13 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| KMT2Clysine methyltransferase 2C | Nogle gange (5–29 %) | I 1 tilstand |
| LAMP2lysosome associated membrane protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| LARS2leucyl-tRNA synthetase 2, mitochondrial | Nogle gange (5–29 %) | I 1 tilstand |
| LCA5lebercilin LCA5 | Nogle gange (5–29 %) | I 1 tilstand |
| LRATlecithin retinol acyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| LRP5LDL receptor related protein 5 | Nogle gange (5–29 %) | I 1 tilstand |
| MAOAmonoamine oxidase A | Nogle gange (5–29 %) | I 1 tilstand |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MORC2MORC family CW-type zinc finger 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Nogle gange (5–29 %) | I 1 tilstand |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Nogle gange (5–29 %) | I 1 tilstand |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Nogle gange (5–29 %) | I 1 tilstand |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Nogle gange (5–29 %) | I 1 tilstand |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Nogle gange (5–29 %) | I 1 tilstand |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Nogle gange (5–29 %) | I 2 tilstande |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Nogle gange (5–29 %) | I 1 tilstand |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| NDPnorrin cystine knot growth factor NDP | Nogle gange (5–29 %) | I 1 tilstand |
| NEU1neuraminidase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ORC6origin recognition complex subunit 6 | Nogle gange (5–29 %) | I 1 tilstand |
| OTX2orthodenticle homeobox 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PCBD1pterin-4 alpha-carbinolamine dehydratase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Nogle gange (5–29 %) | I 1 tilstand |
| PDK3pyruvate dehydrogenase kinase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| PGM1phosphoglucomutase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PHKA2phosphorylase kinase regulatory subunit alpha 2 | Nogle gange (5–29 %) | I 1 tilstand |
| POLR1DRNA polymerase I and III subunit D | Nogle gange (5–29 %) | I 1 tilstand |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Nogle gange (5–29 %) | I 2 tilstande |
| PRKRAprotein activator of interferon induced protein kinase EIF2AK2 | Nogle gange (5–29 %) | I 2 tilstande |
| PRPH2peripherin 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PTS6-pyruvoyltetrahydropterin synthase | Nogle gange (5–29 %) | I 1 tilstand |
| PYGLglycogen phosphorylase L | Nogle gange (5–29 %) | I 1 tilstand |
| RARS1arginyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RCC1regulator of chromosome condensation 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RD3RD3 regulator of GUCY2D | Nogle gange (5–29 %) | I 1 tilstand |
| RDH12retinol dehydrogenase 12 | Nogle gange (5–29 %) | I 1 tilstand |
| RECQL4RecQ like helicase 4 | Nogle gange (5–29 %) | I 1 tilstand |
| RNF125ring finger protein 125 | Nogle gange (5–29 %) | I 1 tilstand |
| RPE65retinoid isomerohydrolase RPE65 | Nogle gange (5–29 %) | I 1 tilstand |
| RPGRIP1RPGR interacting protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RPS6KA3ribosomal protein S6 kinase A3 | Nogle gange (5–29 %) | I 1 tilstand |
| RRAS2RAS related 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SARDHsarcosine dehydrogenase | Nogle gange (5–29 %) | I 1 tilstand |
| SBF2SET binding factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC12A2solute carrier family 12 member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SPATA7spermatogenesis associated 7 | Nogle gange (5–29 %) | I 1 tilstand |
| SPENspen family transcriptional repressor | Nogle gange (5–29 %) | I 1 tilstand |
| STSsteroid sulfatase | Nogle gange (5–29 %) | I 1 tilstand |
| SYT2synaptotagmin 2 | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM38Btransmembrane protein 38B | Nogle gange (5–29 %) | I 1 tilstand |
| TNFRSF11BTNF receptor superfamily member 11b | Nogle gange (5–29 %) | I 1 tilstand |
| TNPO3transportin 3 | Nogle gange (5–29 %) | I 1 tilstand |
| TRMT1tRNA methyltransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TSPAN12tetraspanin 12 | Nogle gange (5–29 %) | I 1 tilstand |
| TUBB4Btubulin beta 4B class IVb | Nogle gange (5–29 %) | I 1 tilstand |
| TULP1TUB like protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| UPB1beta-ureidopropionase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| USP45ubiquitin specific peptidase 45 | Nogle gange (5–29 %) | I 1 tilstand |
| VMA21vacuolar ATPase assembly factor VMA21 | Nogle gange (5–29 %) | I 1 tilstand |
| VPS13Dvacuolar protein sorting 13 homolog D | Nogle gange (5–29 %) | I 1 tilstand |
| WDR62WD repeat domain 62 | Nogle gange (5–29 %) | I 1 tilstand |
| ZIC1Zic family zinc finger 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ZIC4Zic family zinc finger 4 | Nogle gange (5–29 %) | I 1 tilstand |
| ZNF408zinc finger protein 408 | Nogle gange (5–29 %) | I 1 tilstand |
| ANTXR1ANTXR cell adhesion molecule 1 | Sjældent (1–4%) | I 1 tilstand |
| COL3A1collagen type III alpha 1 chain | Sjældent (1–4%) | I 1 tilstand |
| GBA1glucosylceramidase beta 1 | Sjældent (1–4%) | I 2 tilstande |
| MYRFmyelin regulatory factor | Sjældent (1–4%) | I 1 tilstand |
| NEK1NIMA related kinase 1 | Sjældent (1–4%) | I 1 tilstand |
| SGMS2sphingomyelin synthase 2 | Sjældent (1–4%) | I 1 tilstand |
| SPRED1sprouty related EVH1 domain containing 1 | Sjældent (1–4%) | I 1 tilstand |
| AHCYadenosylhomocysteinase | Ikke registreret | I 1 tilstand |
| AHI1Abelson helper integration site 1 | Ikke registreret | I 1 tilstand |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Ikke registreret | I 1 tilstand |
| ANAPC7anaphase promoting complex subunit 7 | Ikke registreret | I 1 tilstand |
| APTXaprataxin | Ikke registreret | I 1 tilstand |
| ARCN1archain 1 coat protein complex I subunit delta | Ikke registreret | I 1 tilstand |
| ARHGEF2Rho/Rac guanine nucleotide exchange factor 2 | Ikke registreret | I 1 tilstand |
| ARID2AT-rich interaction domain 2 | Ikke registreret | I 1 tilstand |
| ASAH1N-acylsphingosine amidohydrolase 1 | Ikke registreret | I 1 tilstand |
| AUHAU RNA binding methylglutaconyl-CoA hydratase | Ikke registreret | I 1 tilstand |
| CANT1calcium activated nucleotidase 1 | Ikke registreret | I 1 tilstand |
| CDK8cyclin dependent kinase 8 | Ikke registreret | I 1 tilstand |
| CHKBcholine kinase beta | Ikke registreret | I 1 tilstand |
| CHRNA1cholinergic receptor nicotinic alpha 1 subunit | Ikke registreret | I 1 tilstand |
| CHRNEcholinergic receptor nicotinic epsilon subunit | Ikke registreret | I 1 tilstand |
| CHST14carbohydrate sulfotransferase 14 | Ikke registreret | I 1 tilstand |
| CNOT2CCR4-NOT transcription complex subunit 2 | Ikke registreret | I 1 tilstand |
| COQ2coenzyme Q2, polyprenyltransferase | Ikke registreret | I 1 tilstand |
| COQ7coenzyme Q7, hydroxylase | Ikke registreret | I 1 tilstand |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Ikke registreret | I 1 tilstand |
| COX15cytochrome c oxidase assembly factor COX15 | Ikke registreret | I 1 tilstand |
| COX6B1cytochrome c oxidase subunit 6B1 | Ikke registreret | I 1 tilstand |
| CTDP1CTD phosphatase 1 | Ikke registreret | I 1 tilstand |
| CYP2U1cytochrome P450 family 2 subfamily U member 1 | Ikke registreret | I 1 tilstand |
| DCXdoublecortin | Ikke registreret | I 1 tilstand |
| DNM2dynamin 2 | Ikke registreret | I 1 tilstand |
| DPYDdihydropyrimidine dehydrogenase | Ikke registreret | I 1 tilstand |
| EPG5ectopic P-granules 5 autophagy tethering factor | Ikke registreret | I 1 tilstand |
| EXOSC2exosome component 2 | Ikke registreret | I 1 tilstand |
| EXT2exostosin glycosyltransferase 2 | Ikke registreret | I 1 tilstand |
| FASTKD2FASTK mitochondrial RNA regulator 2 | Ikke registreret | I 1 tilstand |
| FBN2fibrillin 2 | Ikke registreret | I 1 tilstand |
| FDX2ferredoxin 2 | Ikke registreret | I 1 tilstand |
| FGFR3fibroblast growth factor receptor 3 | Ikke registreret | I 1 tilstand |
| FLNAfilamin A | Ikke registreret | I 1 tilstand |
| FOXG1forkhead box G1 | Ikke registreret | I 1 tilstand |
| GFM1G elongation factor mitochondrial 1 | Ikke registreret | I 1 tilstand |
| GLE1GLE1 RNA export mediator | Ikke registreret | I 1 tilstand |
| GTF2E2general transcription factor IIE subunit 2 | Ikke registreret | I 1 tilstand |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Ikke registreret | I 1 tilstand |
| HPRT1hypoxanthine phosphoribosyltransferase 1 | Ikke registreret | I 1 tilstand |
| HYCC1hyccin PI4KA lipid kinase complex subunit 1 | Ikke registreret | I 1 tilstand |
| KAT6Blysine acetyltransferase 6B | Ikke registreret | I 1 tilstand |
| KDELR2KDEL endoplasmic reticulum protein retention receptor 2 | Ikke registreret | I 1 tilstand |
| KDM1Alysine demethylase 1A | Ikke registreret | I 1 tilstand |
| KIF7kinesin family member 7 | Ikke registreret | I 1 tilstand |
| KLC2kinesin light chain 2 | Ikke registreret | I 1 tilstand |
| LAMA1laminin subunit alpha 1 | Ikke registreret | I 1 tilstand |
| LMNAlamin A/C | Ikke registreret | I 1 tilstand |
| MAPRE2microtubule associated protein RP/EB family member 2 | Ikke registreret | I 1 tilstand |
| MED12mediator complex subunit 12 | Ikke registreret | I 1 tilstand |
| MEGF10multiple EGF like domains 10 | Ikke registreret | I 1 tilstand |
| MLC1modulator of VRAC current 1 | Ikke registreret | I 1 tilstand |
| MMP13matrix metallopeptidase 13 | Ikke registreret | I 1 tilstand |
| MPDZmultiple PDZ domain crumbs cell polarity complex component | Ikke registreret | I 1 tilstand |
| MT-TNmitochondrially encoded tRNA-Asn (AAU/C) | Ikke registreret | I 1 tilstand |
| MTM1myotubularin 1 | Ikke registreret | I 1 tilstand |
| MTMR14myotubularin related protein 14 | Ikke registreret | I 1 tilstand |
| MTMR2myotubularin related protein 2 | Ikke registreret | I 1 tilstand |
| MUSKmuscle associated receptor tyrosine kinase | Ikke registreret | I 1 tilstand |
| MYL1myosin light chain 1 | Ikke registreret | I 1 tilstand |
| MYO9Amyosin IXA | Ikke registreret | I 1 tilstand |
| NANSN-acetylneuraminate synthase | Ikke registreret | I 1 tilstand |
| NONOnon-POU domain containing octamer binding | Ikke registreret | I 1 tilstand |
| OPA1OPA1 mitochondrial dynamin like GTPase | Ikke registreret | I 1 tilstand |
| PAX7paired box 7 | Ikke registreret | I 1 tilstand |
| PBX1PBX homeobox 1 | Ikke registreret | I 1 tilstand |
| PNKPpolynucleotide kinase 3'-phosphatase | Ikke registreret | I 1 tilstand |
| PNPpurine nucleoside phosphorylase | Ikke registreret | I 1 tilstand |
| PREPLprolyl endopeptidase like | Ikke registreret | I 1 tilstand |
| PTCH1patched 1 | Ikke registreret | I 1 tilstand |
| PTPRQprotein tyrosine phosphatase receptor type Q | Ikke registreret | I 1 tilstand |
| RBM8ARNA binding motif protein 8A | Ikke registreret | I 1 tilstand |
| RIPK4receptor interacting serine/threonine kinase 4 | Ikke registreret | I 1 tilstand |
| RORARAR related orphan receptor A | Ikke registreret | I 1 tilstand |
| SAMD9sterile alpha motif domain containing 9 | Ikke registreret | I 1 tilstand |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Ikke registreret | I 1 tilstand |
| SCO1synthesis of cytochrome C oxidase 1 | Ikke registreret | I 1 tilstand |
| SH3TC2SH3 domain and tetratricopeptide repeats 2 | Ikke registreret | I 1 tilstand |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Ikke registreret | I 1 tilstand |
| SLC1A3solute carrier family 1 member 3 | Ikke registreret | I 1 tilstand |
| SLC25A1solute carrier family 25 member 1 | Ikke registreret | I 1 tilstand |
| SLC6A8solute carrier family 6 member 8 | Ikke registreret | I 1 tilstand |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Ikke registreret | I 1 tilstand |
| SURF1SURF1 cytochrome c oxidase assembly factor | Ikke registreret | I 1 tilstand |
| TACO1translational activator of cytochrome c oxidase I | Ikke registreret | I 1 tilstand |
| TCF4transcription factor 4 | Ikke registreret | I 1 tilstand |
| TENT5Aterminal nucleotidyltransferase 5A | Ikke registreret | I 1 tilstand |
| TKFCtriokinase and FMN cyclase | Ikke registreret | I 1 tilstand |
| TMCO1transmembrane and coiled-coil domains 1 | Ikke registreret | I 1 tilstand |
| TNFRSF11ATNF receptor superfamily member 11a | Ikke registreret | I 1 tilstand |
| TRIP11thyroid hormone receptor interactor 11 | Ikke registreret | I 1 tilstand |
| TRMT10AtRNA methyltransferase 10A | Ikke registreret | I 1 tilstand |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Ikke registreret | I 1 tilstand |
| TUBA1Atubulin alpha 1a | Ikke registreret | I 1 tilstand |
| TUBBtubulin beta class I | Ikke registreret | I 1 tilstand |
| VDRvitamin D receptor | Ikke registreret | I 1 tilstand |
| VPS13Bvacuolar protein sorting 13 homolog B | Ikke registreret | I 1 tilstand |
| ZEB2zinc finger E-box binding homeobox 2 | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
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Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
Én test. Svar for hele livet.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger