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Træk
Intellectual disability
The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.
Resumé
- Også kaldet
- Low intelligence, Mental deficiency, Poor school performance, Nonprogressive intellectual disability
- Kropssystem
- Abnormality of the nervous system
Intellectual disabilityHP:0001249
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Bestil min Genome Test1.647 gener knyttet til Intellectual disability
Ændringer i disse gener forårsager sjældne tilstande, hvor Intellectual disability 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 |
|---|---|---|
| ABHD16Aabhydrolase domain containing 16A, phospholipase | Altid | I 1 tilstand |
| ACSL4acyl-CoA synthetase long chain family member 4 | Altid | I 1 tilstand |
| ACTG1actin gamma 1 | Altid | I 2 tilstande |
| ACTL6Bactin like 6B | Altid | I 2 tilstande |
| ADARB1adenosine deaminase RNA specific B1 | Altid | I 1 tilstand |
| ADAT3adenosine deaminase tRNA specific 3 | Altid | I 2 tilstande |
| ADGRG1adhesion G protein-coupled receptor G1 | Altid | I 4 tilstande |
| ADH5alcohol dehydrogenase 5 (class III), chi polypeptide | Altid | I 1 tilstand |
| ADNPactivity dependent neuroprotector homeobox | Altid | I 1 tilstand |
| AFF2ALF transcription elongation factor 2 | Altid | I 2 tilstande |
| AFF3ALF transcription elongation factor 3 | Altid | I 1 tilstand |
| AGO1argonaute RISC component 1 | Altid | I 1 tilstand |
| AGO2argonaute RISC catalytic component 2 | Altid | I 1 tilstand |
| AHDC1AT-hook DNA binding motif containing 1 | Altid | I 2 tilstande |
| AHI1Abelson helper integration site 1 | Altid | I 3 tilstande |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Altid | I 4 tilstande |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Altid | I 3 tilstande |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Altid | I 2 tilstande |
| ALKBH8alkB homolog 8, tRNA methyltransferase | Altid | I 1 tilstand |
| ALX1ALX homeobox 1 | Altid | I 2 tilstande |
| AMPD2adenosine monophosphate deaminase 2 | Altid | I 1 tilstand |
| ANK3ankyrin 3 | Altid | I 1 tilstand |
| ANKRD11ankyrin repeat domain 11 | Altid | I 1 tilstand |
| AP1B1adaptor related protein complex 1 subunit beta 1 | Altid | I 2 tilstande |
| AP1G1adaptor related protein complex 1 subunit gamma 1 | Altid | I 2 tilstande |
| AP2M1adaptor related protein complex 2 subunit mu 1 | Altid | I 2 tilstande |
| APC2APC regulator of Wnt signaling pathway 2 | Altid | I 1 tilstand |
| AQP4aquaporin 4 | Altid | I 2 tilstande |
| ARHGEF2Rho/Rac guanine nucleotide exchange factor 2 | Altid | I 1 tilstand |
| ARID1AAT-rich interaction domain 1A | Altid | I 1 tilstand |
| ARL13BARF like GTPase 13B | Altid | I 2 tilstande |
| ARMC9armadillo repeat containing 9 | Altid | I 2 tilstande |
| ARXaristaless related homeobox | Altid | I 8 tilstande |
| ASH1LASH1 like histone lysine methyltransferase | Altid | I 1 tilstand |
| ASPMassembly factor for spindle microtubules | Altid | I 1 tilstand |
| ASXL3ASXL transcriptional regulator 3 | Altid | I 2 tilstande |
| ATN1atrophin 1 | Altid | I 2 tilstande |
| ATP2B1ATPase plasma membrane Ca2+ transporting 1 | Altid | I 1 tilstand |
| ATP6AP2ATPase H+ transporting accessory protein 2 | Altid | I 2 tilstande |
| ATP6V0A1ATPase H+ transporting V0 subunit a1 | Altid | I 2 tilstande |
Vis 1.607 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| ATP6V0CATPase H+ transporting V0 subunit c | Altid | I 1 tilstand |
| ATP6V1AATPase H+ transporting V1 subunit A | Altid | I 2 tilstande |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Altid | I 3 tilstande |
| ATP8A2ATPase phospholipid transporting 8A2 | Altid | I 2 tilstande |
| ATRXATRX chromatin remodeler | Altid | I 3 tilstande |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Altid | I 2 tilstande |
| B9D1B9 domain containing 1 | Altid | I 2 tilstande |
| BBIP1BBSome interacting protein 1 | Altid | I 2 tilstande |
| BBS2Bardet-Biedl syndrome 2 | Altid | I 2 tilstande |
| BBS7Bardet-Biedl syndrome 7 | Altid | I 2 tilstande |
| BCKDKbranched chain keto acid dehydrogenase kinase | Altid | I 1 tilstand |
| BCL11ABCL11 transcription factor A | Altid | I 1 tilstand |
| BCL11BBCL11 transcription factor B | Altid | I 2 tilstande |
| BCORBCL6 corepressor | Altid | I 3 tilstande |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Altid | I 1 tilstand |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Altid | I 7 tilstande |
| BRF1BRF1 general transcription factor IIIB subunit | Altid | I 1 tilstand |
| BRWD3bromodomain and WD repeat domain containing 3 | Altid | I 1 tilstand |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Altid | I 2 tilstande |
| CA2carbonic anhydrase 2 | Altid | I 2 tilstande |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Altid | I 6 tilstande |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Altid | I 1 tilstand |
| CAMK2Acalcium/calmodulin dependent protein kinase II alpha | Altid | I 1 tilstand |
| CASP2caspase 2 | Altid | I 1 tilstand |
| CBScystathionine beta-synthase | Altid | I 2 tilstande |
| CC2D2Acoiled-coil and C2 domain containing 2A | Altid | I 3 tilstande |
| CCT3chaperonin containing TCP1 subunit 3 | Altid | I 1 tilstand |
| CDH11cadherin 11 | Altid | I 2 tilstande |
| CDH15cadherin 15 | Altid | I 1 tilstand |
| CDK10cyclin dependent kinase 10 | Altid | I 1 tilstand |
| CDK13cyclin dependent kinase 13 | Altid | I 1 tilstand |
| CDK19cyclin dependent kinase 19 | Altid | I 2 tilstande |
| CDK8cyclin dependent kinase 8 | Altid | I 1 tilstand |
| CELF2CUGBP Elav-like family member 2 | Altid | I 2 tilstande |
| CEP104centrosomal protein 104 | Altid | I 2 tilstande |
| CEP152centrosomal protein 152 | Altid | I 2 tilstande |
| CEP290centrosomal protein 290 | Altid | I 5 tilstande |
| CEP295centrosomal protein 295 | Altid | I 2 tilstande |
| CEP57centrosomal protein 57 | Altid | I 2 tilstande |
| CEP63centrosomal protein 63 | Altid | I 2 tilstande |
| CERT1ceramide transporter 1 | Altid | I 1 tilstand |
| CHAMP1chromosome alignment maintaining phosphoprotein 1 | Altid | I 1 tilstand |
| CHD2chromodomain helicase DNA binding protein 2 | Altid | I 3 tilstande |
| CHD3chromodomain helicase DNA binding protein 3 | Altid | I 1 tilstand |
| CHD4chromodomain helicase DNA binding protein 4 | Altid | I 1 tilstand |
| CHD7chromodomain helicase DNA binding protein 7 | Altid | I 2 tilstande |
| CHD8chromodomain helicase DNA binding protein 8 | Altid | I 2 tilstande |
| CHKBcholine kinase beta | Altid | I 1 tilstand |
| CHP1calcineurin like EF-hand protein 1 | Altid | I 1 tilstand |
| CITcitron rho-interacting serine/threonine kinase | Altid | I 1 tilstand |
| CLCN3Cl-/H+ antiporter 3 | Altid | I 1 tilstand |
| CLTCclathrin heavy chain | Altid | I 2 tilstande |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Altid | I 2 tilstande |
| CNNM2cyclin and CBS domain divalent metal cation transport mediator 2 | Altid | I 1 tilstand |
| CNTNAP2contactin associated protein 2 | Altid | I 1 tilstand |
| COASYCoenzyme A synthase | Altid | I 1 tilstand |
| COG3component of oligomeric golgi complex 3 | Altid | I 1 tilstand |
| COG5component of oligomeric golgi complex 5 | Altid | I 1 tilstand |
| COG8component of oligomeric golgi complex 8 | Altid | I 2 tilstande |
| COL18A1collagen type XVIII alpha 1 chain | Altid | I 1 tilstand |
| COL9A3collagen type IX alpha 3 chain | Altid | I 1 tilstand |
| CPEcarboxypeptidase E | Altid | I 1 tilstand |
| CPLX1complexin 1 | Altid | I 2 tilstande |
| CPSF3cleavage and polyadenylation specific factor 3 | Altid | I 1 tilstand |
| CRADDCARD and death domain containing adaptor protein | Altid | I 1 tilstand |
| CREBBPCREB binding lysine acetyltransferase | Altid | I 5 tilstande |
| CRNKL1crooked neck pre-mRNA splicing factor 1 | Altid | I 1 tilstand |
| CSNK2Bcasein kinase 2 beta | Altid | I 1 tilstand |
| CTCFCCCTC-binding factor | Altid | I 2 tilstande |
| CTNNB1catenin beta 1 | Altid | I 4 tilstande |
| CTSAcathepsin A | Altid | I 2 tilstande |
| CUL4Bcullin 4B | Altid | I 1 tilstand |
| CUX2cut like homeobox 2 | Altid | I 2 tilstande |
| CWF19L1CWF19 like cell cycle control factor 1 | Altid | I 1 tilstand |
| DAG1dystroglycan 1 | Altid | I 2 tilstande |
| DDB1damage specific DNA binding protein 1 | Altid | I 1 tilstand |
| DDX3XDEAD-box helicase 3 X-linked | Altid | I 3 tilstande |
| DDX59DEAD-box helicase 59 | Altid | I 2 tilstande |
| DDX6DEAD-box helicase 6 | Altid | I 1 tilstand |
| DEAF1DEAF1 transcription factor | Altid | I 3 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 |
| DLG4discs large MAGUK scaffold protein 4 | Altid | I 1 tilstand |
| DNA2DNA replication helicase/nuclease 2 | Altid | I 2 tilstande |
| DNM1dynamin 1 | Altid | I 3 tilstande |
| DNMT3ADNA methyltransferase 3 alpha | Altid | I 1 tilstand |
| DPF2double PHD fingers 2 | Altid | I 1 tilstand |
| DPH1diphthamide biosynthesis 1 | Altid | I 1 tilstand |
| DPP6dipeptidyl peptidase like 6 | Altid | I 1 tilstand |
| DTYMKdeoxythymidylate kinase | Altid | I 1 tilstand |
| DYMdymeclin | Altid | I 2 tilstande |
| EEDembryonic ectoderm development | Altid | I 1 tilstand |
| EIF4A2eukaryotic translation initiation factor 4A2 | Altid | I 1 tilstand |
| ELP2elongator acetyltransferase complex subunit 2 | Altid | I 1 tilstand |
| EP300EP300 lysine acetyltransferase | Altid | I 4 tilstande |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Altid | I 4 tilstande |
| ERI1exoribonuclease 1 | Altid | I 1 tilstand |
| ERLIN2ER lipid raft associated 2 | Altid | I 2 tilstande |
| EXOSC5exosome component 5 | Altid | I 1 tilstand |
| FAM149B1family with sequence similarity 149 member B1 | Altid | I 2 tilstande |
| FAM177A1family with sequence similarity 177 member A1 | Altid | I 1 tilstand |
| FBXL3F-box and leucine rich repeat protein 3 | Altid | I 1 tilstand |
| FBXO11F-box protein 11 | Altid | I 1 tilstand |
| FBXO28F-box protein 28 | Altid | I 2 tilstande |
| FBXO31F-box protein 31 | Altid | I 1 tilstand |
| FBXO7F-box protein 7 | Altid | I 1 tilstand |
| FDXRferredoxin reductase | Altid | I 1 tilstand |
| FEM1Bfem-1 homolog B | Altid | I 1 tilstand |
| FERRY3FERRY endosomal RAB5 effector complex subunit 3 | Altid | I 1 tilstand |
| FGFR3fibroblast growth factor receptor 3 | Altid | I 6 tilstande |
| FILIP1filamin A interacting protein 1 | Altid | I 1 tilstand |
| FLNAfilamin A | Altid | I 4 tilstande |
| FMN2formin 2 | Altid | I 1 tilstand |
| FOXP1forkhead box P1 | Altid | I 1 tilstand |
| FRA10AC1FRA10A associated CGG repeat 1 | Altid | I 1 tilstand |
| FRMD5FERM domain containing 5 | Altid | I 1 tilstand |
| FRMPD4FERM and PDZ domain containing 4 | Altid | I 1 tilstand |
| FRYLFRY like transcription coactivator | Altid | I 1 tilstand |
| FTSJ1FtsJ RNA 2'-O-methyltransferase 1 | Altid | I 1 tilstand |
| FUCA1alpha-L-fucosidase 1 | Altid | I 1 tilstand |
| FUT8fucosyltransferase 8 | Altid | I 1 tilstand |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Altid | I 4 tilstande |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Altid | I 3 tilstande |
| GATMglycine amidinotransferase | Altid | I 1 tilstand |
| GDI1GDP dissociation inhibitor 1 | Altid | I 1 tilstand |
| GGT1gamma-glutamyltransferase 1 | Altid | I 2 tilstande |
| GLB1galactosidase beta 1 | Altid | I 2 tilstande |
| GMPPBGDP-mannose pyrophosphorylase B | Altid | I 4 tilstande |
| GNAI1G protein subunit alpha i1 | Altid | I 1 tilstand |
| GNB1G protein subunit beta 1 | Altid | I 2 tilstande |
| GNB5G protein subunit beta 5 | Altid | I 2 tilstande |
| GPT2glutamic--pyruvic transaminase 2 | Altid | I 2 tilstande |
| GRIA1glutamate ionotropic receptor AMPA type subunit 1 | Altid | I 1 tilstand |
| GRIA2glutamate ionotropic receptor AMPA type subunit 2 | Altid | I 1 tilstand |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Altid | I 1 tilstand |
| GRIA4glutamate ionotropic receptor AMPA type subunit 4 | Altid | I 1 tilstand |
| GRID2glutamate ionotropic receptor delta type subunit 2 | Altid | I 1 tilstand |
| GRIK2glutamate ionotropic receptor kainate type subunit 2 | Altid | I 2 tilstande |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Altid | I 2 tilstande |
| GRIN2Bglutamate ionotropic receptor NMDA type subunit 2B | Altid | I 2 tilstande |
| GRM1glutamate metabotropic receptor 1 | Altid | I 2 tilstande |
| GRM7glutamate metabotropic receptor 7 | Altid | I 2 tilstande |
| GTF2H5general transcription factor IIH subunit 5 | Altid | I 1 tilstand |
| GTF3C3general transcription factor IIIC subunit 3 | Altid | I 1 tilstand |
| H1-4H1.4 linker histone, cluster member | Altid | I 1 tilstand |
| H4C11H4 clustered histone 11 | Altid | I 1 tilstand |
| H4C3H4 clustered histone 3 | Altid | I 1 tilstand |
| H4C5H4 clustered histone 5 | Altid | I 1 tilstand |
| HAX1HCLS1 associated protein X-1 | Altid | I 1 tilstand |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Altid | I 3 tilstande |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Altid | I 1 tilstand |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Altid | I 1 tilstand |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Altid | I 1 tilstand |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Altid | I 2 tilstande |
| HIVEP2HIVEP zinc finger 2 | Altid | I 1 tilstand |
| HK1hexokinase 1 | Altid | I 1 tilstand |
| HMGB3high mobility group box 3 | Altid | I 1 tilstand |
| HNRNPH1heterogeneous nuclear ribonucleoprotein H1 | Altid | I 1 tilstand |
| HNRNPH2heterogeneous nuclear ribonucleoprotein H2 | Altid | I 1 tilstand |
| HNRNPUheterogeneous nuclear ribonucleoprotein U | Altid | I 1 tilstand |
| HPDL4-hydroxyphenylpyruvate dioxygenase like | Altid | I 1 tilstand |
| HPRT1hypoxanthine phosphoribosyltransferase 1 | Altid | I 2 tilstande |
| HS2ST1heparan sulfate 2-O-sulfotransferase 1 | Altid | I 1 tilstand |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Altid | I 2 tilstande |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Altid | I 1 tilstand |
| HYCC1hyccin PI4KA lipid kinase complex subunit 1 | Altid | I 1 tilstand |
| IARS1isoleucyl-tRNA synthetase 1 | Altid | I 2 tilstande |
| IFT74intraflagellar transport 74 | Altid | I 4 tilstande |
| IGBP1immunoglobulin binding protein 1 | Altid | I 2 tilstande |
| IGF1insulin like growth factor 1 | Altid | I 2 tilstande |
| IMPA1inositol monophosphatase 1 | Altid | I 1 tilstand |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Altid | I 1 tilstand |
| INPP5Einositol polyphosphate-5-phosphatase E | Altid | I 3 tilstande |
| IQSEC2IQ motif and Sec7 domain ArfGEF 2 | Altid | I 2 tilstande |
| IRF2BPLinterferon regulatory factor 2 binding protein like | Altid | I 1 tilstand |
| IRX5iroquois homeobox 5 | Altid | I 1 tilstand |
| JKAMPJNK1/MAPK8 associated membrane protein | Altid | I 1 tilstand |
| KAT6Alysine acetyltransferase 6A | Altid | I 1 tilstand |
| KCNA4potassium voltage-gated channel subfamily A member 4 | Altid | I 1 tilstand |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Altid | I 2 tilstande |
| KCNK4potassium two pore domain channel subfamily K member 4 | Altid | I 1 tilstand |
| KCNN2potassium calcium-activated channel subfamily N member 2 | Altid | I 1 tilstand |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Altid | I 2 tilstande |
| KCNQ5potassium voltage-gated channel subfamily Q member 5 | Altid | I 1 tilstand |
| KCTD7potassium channel tetramerization domain containing 7 | Altid | I 2 tilstande |
| KDM4Blysine demethylase 4B | Altid | I 1 tilstand |
| KDM5Alysine demethylase 5A | Altid | I 1 tilstand |
| KDM6Alysine demethylase 6A | Altid | I 3 tilstande |
| KICS2KICSTOR subunit 2 | Altid | I 1 tilstand |
| KIDINS220kinase D interacting substrate 220 | Altid | I 2 tilstande |
| KIF1Akinesin family member 1A | Altid | I 2 tilstande |
| KIF4Akinesin family member 4A | Altid | I 1 tilstand |
| KIFBPkinesin family binding protein | Altid | I 2 tilstande |
| KLHL15kelch like family member 15 | Altid | I 1 tilstand |
| KMT2Alysine methyltransferase 2A | Altid | I 2 tilstande |
| KMT2Blysine methyltransferase 2B | Altid | I 2 tilstande |
| KMT2Clysine methyltransferase 2C | Altid | I 2 tilstande |
| KMT5Blysine methyltransferase 5B | Altid | I 1 tilstand |
| KNL1kinetochore scaffold 1 | Altid | I 1 tilstand |
| KRASKRas proto-oncogene, GTPase | Altid | I 7 tilstande |
| L1CAML1 cell adhesion molecule | Altid | I 5 tilstande |
| L2HGDHL-2-hydroxyglutarate dehydrogenase | Altid | I 2 tilstande |
| LAGE3L antigen family member 3 | Altid | I 1 tilstand |
| LAMB1laminin subunit beta 1 | Altid | I 1 tilstand |
| LAS1LLAS1 like ribosome biogenesis factor | Altid | I 2 tilstande |
| LGI3leucine rich repeat LGI family member 3 | Altid | I 1 tilstand |
| LINS1lines homolog 1 | Altid | I 1 tilstand |
| LRRC7leucine rich repeat containing 7 | Altid | I 1 tilstand |
| LSM7LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated | Altid | I 1 tilstand |
| LSSlanosterol synthase | Altid | I 2 tilstande |
| LYRM7LYR motif containing 7 | Altid | I 1 tilstand |
| LZTFL1leucine zipper transcription factor like 1 | Altid | I 2 tilstande |
| MAFMAF bZIP transcription factor | Altid | I 2 tilstande |
| MAGEL2MAGE family member L2 | Altid | I 3 tilstande |
| MAGT1magnesium transporter 1 | Altid | I 1 tilstand |
| MAN1B1mannosidase alpha class 1B member 1 | Altid | I 2 tilstande |
| MANBAmannosidase beta | Altid | I 2 tilstande |
| MAPRE2microtubule associated protein RP/EB family member 2 | Altid | I 2 tilstande |
| MARK2microtubule affinity regulating kinase 2 | Altid | I 1 tilstand |
| MARS1methionyl-tRNA synthetase 1 | Altid | I 1 tilstand |
| MAST1microtubule associated serine/threonine kinase 1 | Altid | I 1 tilstand |
| MAST3microtubule associated serine/threonine kinase 3 | Altid | I 1 tilstand |
| MBD5methyl-CpG binding domain protein 5 | Altid | I 1 tilstand |
| MBOAT7membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7 | Altid | I 1 tilstand |
| MCPH1microcephalin 1 | Altid | I 1 tilstand |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Altid | I 2 tilstande |
| MECP2methyl-CpG binding protein 2 | Altid | I 4 tilstande |
| MED12mediator complex subunit 12 | Altid | I 5 tilstande |
| MED12Lmediator complex subunit 12L | Altid | I 1 tilstand |
| MED16mediator complex subunit 16 | Altid | I 1 tilstand |
| MED23mediator complex subunit 23 | Altid | I 1 tilstand |
| MED27mediator complex subunit 27 | Altid | I 1 tilstand |
| MEIS2Meis homeobox 2 | Altid | I 2 tilstande |
| METTL23methyltransferase 23, arginine | Altid | I 1 tilstand |
| MID2midline 2 | Altid | I 1 tilstand |
| MKRN3makorin ring finger protein 3 | Altid | I 1 tilstand |
| MKS1MKS transition zone complex subunit 1 | Altid | I 5 tilstande |
| MOCS3molybdenum cofactor synthesis 3 | Altid | I 1 tilstand |
| MPLKIPM-phase specific PLK1 interacting protein | Altid | I 1 tilstand |
| MRPS2mitochondrial ribosomal protein S2 | Altid | I 1 tilstand |
| MSL3MSL complex subunit 3 | Altid | I 1 tilstand |
| MTORmechanistic target of rapamycin kinase | Altid | I 3 tilstande |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Altid | I 3 tilstande |
| MYT1Lmyelin transcription factor 1 like | Altid | I 2 tilstande |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Altid | I 2 tilstande |
| NAA15N-alpha-acetyltransferase 15, NatA auxiliary subunit | Altid | I 1 tilstand |
| NAA20N-alpha-acetyltransferase 20, NatB catalytic subunit | Altid | I 1 tilstand |
| NACC1nucleus accumbens associated 1 | Altid | I 1 tilstand |
| NAGLUN-acetyl-alpha-glucosaminidase | Altid | I 1 tilstand |
| NARS1asparaginyl-tRNA synthetase 1 | Altid | I 2 tilstande |
| NCDNneurochondrin | Altid | I 1 tilstand |
| NDST1N-deacetylase and N-sulfotransferase 1 | Altid | I 1 tilstand |
| NDUFA2NADH:ubiquinone oxidoreductase subunit A2 | Altid | I 1 tilstand |
| NEXMIFneurite extension and migration factor | Altid | I 3 tilstande |
| NFIBnuclear factor I B | Altid | I 1 tilstand |
| NFIXnuclear factor I X | Altid | I 3 tilstande |
| NGLY1N-glycanase 1 | Altid | I 2 tilstande |
| NONOnon-POU domain containing octamer binding | Altid | I 1 tilstand |
| NOS3nitric oxide synthase 3 | Altid | I 1 tilstand |
| NOVA2NOVA alternative splicing regulator 2 | Altid | I 1 tilstand |
| NPAP1nuclear pore associated protein 1 | Altid | I 1 tilstand |
| NPC1NPC intracellular cholesterol transporter 1 | Altid | I 1 tilstand |
| NR2F1nuclear receptor subfamily 2 group F member 1 | Altid | I 2 tilstande |
| NSD2nuclear receptor binding SET domain protein 2 | Altid | I 1 tilstand |
| NSUN2NOP2/Sun RNA methyltransferase 2 | Altid | I 1 tilstand |
| NSUN6NOP2/Sun RNA methyltransferase 6 | Altid | I 1 tilstand |
| NTRK1neurotrophic receptor tyrosine kinase 1 | Altid | I 2 tilstande |
| NUP107nucleoporin 107 | Altid | I 1 tilstand |
| NUP37nucleoporin 37 | Altid | I 1 tilstand |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Altid | I 2 tilstande |
| OGTO-linked N-acetylglucosamine (GlcNAc) transferase | Altid | I 1 tilstand |
| OPHN1oligophrenin 1 | Altid | I 2 tilstande |
| OTUD5OTU deubiquitinase 5 | Altid | I 1 tilstand |
| OXR1oxidation resistance 1 | Altid | I 1 tilstand |
| PACS2phosphofurin acidic cluster sorting protein 2 | Altid | I 2 tilstande |
| PAK3p21 (RAC1) activated kinase 3 | Altid | I 1 tilstand |
| PCYT2phosphate cytidylyltransferase 2, ethanolamine | Altid | I 1 tilstand |
| PDCD6IPprogrammed cell death 6 interacting protein | Altid | I 1 tilstand |
| PDE4Dphosphodiesterase 4D | Altid | I 3 tilstande |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Altid | I 1 tilstand |
| PDZD8PDZ domain containing 8 | Altid | I 1 tilstand |
| PEX11Bperoxisomal biogenesis factor 11 beta | Altid | I 1 tilstand |
| PEX12peroxisomal biogenesis factor 12 | Altid | I 1 tilstand |
| PGM2L1phosphoglucomutase 2 like 1 | Altid | I 1 tilstand |
| PHACTR1phosphatase and actin regulator 1 | Altid | I 1 tilstand |
| PHF21APHD finger protein 21A | Altid | I 2 tilstande |
| PHF8PHD finger protein 8 | Altid | I 1 tilstand |
| PHIPPHIP subunit of CUL4-Ring ligase complex | Altid | I 2 tilstande |
| PI4KAphosphatidylinositol 4-kinase alpha | Altid | I 2 tilstande |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Altid | I 2 tilstande |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Altid | I 1 tilstand |
| PIGCphosphatidylinositol glycan anchor biosynthesis class C | Altid | I 1 tilstand |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Altid | I 3 tilstande |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Altid | I 2 tilstande |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Altid | I 1 tilstand |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Altid | I 2 tilstande |
| PLK4polo like kinase 4 | Altid | I 3 tilstande |
| PLP1proteolipid protein 1 | Altid | I 3 tilstande |
| PNPLA6patatin like domain 6, lysophospholipase | Altid | I 4 tilstande |
| POLA1DNA polymerase alpha 1, catalytic subunit | Altid | I 2 tilstande |
| POLR1ARNA polymerase I subunit A | Altid | I 1 tilstand |
| POLR3BRNA polymerase III subunit B | Altid | I 2 tilstande |
| POMT1protein O-mannosyltransferase 1 | Altid | I 5 tilstande |
| POU3F3POU class 3 homeobox 3 | Altid | I 1 tilstand |
| PPFIA3PPFI scaffold protein A3 | Altid | I 1 tilstand |
| PPOXprotoporphyrinogen oxidase | Altid | I 1 tilstand |
| PPP2R1Aprotein phosphatase 2 scaffold subunit Aalpha | Altid | I 2 tilstande |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Altid | I 1 tilstand |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Altid | I 3 tilstande |
| PRDM13PR/SET domain 13 | Altid | I 1 tilstand |
| PRODHproline dehydrogenase 1 | Altid | I 1 tilstand |
| PRR12proline rich 12 | Altid | I 1 tilstand |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Altid | I 1 tilstand |
| PSPHphosphoserine phosphatase | Altid | I 1 tilstand |
| PTDSS1phosphatidylserine synthase 1 | Altid | I 2 tilstande |
| PTPAprotein phosphatase 2 phosphatase activator | Altid | I 1 tilstand |
| PTRHD1peptidyl-tRNA hydrolase domain containing 1 | Altid | I 1 tilstand |
| PUM1pumilio RNA binding family member 1 | Altid | I 1 tilstand |
| PUS7pseudouridine synthase 7 | Altid | I 1 tilstand |
| PWAR1Prader Willi/Angelman region RNA 1 | Altid | I 1 tilstand |
| PWRN1Prader-Willi region non-protein coding RNA 1 | Altid | I 1 tilstand |
| QRICH1glutamine rich 1 | Altid | I 1 tilstand |
| RAB11BRAB11B, member RAS oncogene family | Altid | I 1 tilstand |
| RAB39BRAB39B, member RAS oncogene family | Altid | I 2 tilstande |
| RAC1Rac family small GTPase 1 | Altid | I 2 tilstande |
| RAD50RAD50 double strand break repair protein | Altid | I 1 tilstand |
| RAD51RAD51 recombinase | Altid | I 2 tilstande |
| RAI1retinoic acid induced 1 | Altid | I 2 tilstande |
| RALARAS like proto-oncogene A | Altid | I 1 tilstand |
| RAP1GDS1Rap1 GTPase-GDP dissociation stimulator 1 | Altid | I 1 tilstand |
| RARBretinoic acid receptor beta | Altid | I 1 tilstand |
| RBBP8RB binding protein 8, endonuclease | Altid | I 2 tilstande |
| RBM28RNA binding motif protein 28 | Altid | I 2 tilstande |
| RFX7regulatory factor X7 | Altid | I 1 tilstand |
| RHOBTB2Rho related BTB domain containing 2 | Altid | I 3 tilstande |
| RIC1RIC1 partner of RAB6A GEF complex | Altid | I 1 tilstand |
| RLIMring finger protein, LIM domain interacting | Altid | I 1 tilstand |
| RNU2-2RNA, U2 small nuclear 2 | Altid | I 1 tilstand |
| RNU4-2RNA, U4 small nuclear 2 | Altid | I 1 tilstand |
| RPL10ribosomal protein L10 | Altid | I 1 tilstand |
| RPS6KA3ribosomal protein S6 kinase A3 | Altid | I 3 tilstande |
| RRP7Aribosomal RNA processing 7 homolog A | 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 |
| RUBCNrubicon autophagy regulator | Altid | I 2 tilstande |
| RUSC2RUN and SH3 domain containing 2 | Altid | I 1 tilstand |
| SCAF4SR-related CTD associated factor 4 | Altid | I 1 tilstand |
| SCAPERS-phase cyclin A associated protein in the ER | Altid | I 2 tilstande |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Altid | I 4 tilstande |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Altid | I 2 tilstande |
| SERAC1serine active site containing 1 | Altid | I 2 tilstande |
| SETD2SET domain containing 2, histone lysine methyltransferase | Altid | I 3 tilstande |
| SETD5SET domain containing 5 | Altid | I 1 tilstand |
| SLC13A1solute carrier family 13 member 1 | Altid | I 1 tilstand |
| SLC2A1solute carrier family 2 member 1 | Altid | I 9 tilstande |
| SLC32A1solute carrier family 32 member 1 | Altid | I 2 tilstande |
| SLC38A3solute carrier family 38 member 3 | Altid | I 2 tilstande |
| SLC39A8solute carrier family 39 member 8 | Altid | I 1 tilstand |
| SLC4A4solute carrier family 4 member 4 | Altid | I 1 tilstand |
| SLC6A1solute carrier family 6 member 1 | Altid | I 2 tilstande |
| SLC6A19solute carrier family 6 member 19 | Altid | I 2 tilstande |
| SLC6A8solute carrier family 6 member 8 | Altid | I 2 tilstande |
| SLITRK2SLIT and NTRK like family member 2 | Altid | I 1 tilstand |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Altid | I 3 tilstande |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Altid | I 1 tilstand |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Altid | I 1 tilstand |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Altid | I 1 tilstand |
| SMC3structural maintenance of chromosomes 3 | Altid | I 2 tilstande |
| SMG9SMG9 nonsense mediated mRNA decay factor | Altid | I 1 tilstand |
| SMSspermine synthase | Altid | I 1 tilstand |
| SNF8SNF8 subunit of ESCRT-II | Altid | I 1 tilstand |
| SNORD115-1small nucleolar RNA, C/D box 115-1 | Altid | I 1 tilstand |
| SNORD116-1small nucleolar RNA, C/D box 116-1 | Altid | I 1 tilstand |
| SNX14sorting nexin 14 | Altid | I 1 tilstand |
| SONSON DNA and RNA binding protein | Altid | I 2 tilstande |
| SOX10SRY-box transcription factor 10 | Altid | I 3 tilstande |
| SOX4SRY-box transcription factor 4 | Altid | I 1 tilstand |
| SOX5SRY-box transcription factor 5 | Altid | I 2 tilstande |
| SPENspen family transcriptional repressor | Altid | I 2 tilstande |
| SPOPspeckle type BTB/POZ protein | Altid | I 2 tilstande |
| SPOUT1SPOUT domain containing methyltransferase 1 | Altid | I 1 tilstand |
| SPTSSAserine palmitoyltransferase small subunit A | Altid | I 1 tilstand |
| SRD5A3steroid 5 alpha-reductase 3 | Altid | I 2 tilstande |
| SSR4signal sequence receptor subunit 4 | Altid | I 2 tilstande |
| STAG1STAG1 cohesin complex component | Altid | I 2 tilstande |
| STEEP1STING1 ER exit protein 1 | Altid | I 1 tilstand |
| STILSTIL centriolar assembly protein | Altid | I 6 tilstande |
| STT3ASTT3 oligosaccharyltransferase complex catalytic subunit A | Altid | I 3 tilstande |
| STT3BSTT3 oligosaccharyltransferase complex catalytic subunit B | Altid | I 2 tilstande |
| SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit | Altid | I 2 tilstande |
| SVBPsmall vasohibin binding protein | Altid | I 1 tilstand |
| SYPsynaptophysin | Altid | I 1 tilstand |
| TACO1translational activator of cytochrome c oxidase I | Altid | I 2 tilstande |
| TAF2TATA-box binding protein associated factor 2 | Altid | I 2 tilstande |
| TAF6TATA-box binding protein associated factor 6 | Altid | I 1 tilstand |
| TAF8TATA-box binding protein associated factor 8 | Altid | I 1 tilstand |
| TANGO2transport and golgi organization 2 homolog | Altid | I 2 tilstande |
| TBC1D24TBC1 domain family member 24 | Altid | I 3 tilstande |
| TBCDtubulin folding cofactor D | Altid | I 1 tilstand |
| TBCEtubulin folding cofactor E | Altid | I 4 tilstande |
| TBL1XR1TBL1X/Y related 1 | Altid | I 3 tilstande |
| TCEAL1transcription elongation factor A like 1 | Altid | I 1 tilstand |
| TECPR2tectonin beta-propeller repeat containing 2 | Altid | I 2 tilstande |
| TECRtrans-2,3-enoyl-CoA reductase | Altid | I 1 tilstand |
| TELO2telomere maintenance 2 | Altid | I 1 tilstand |
| TFE3transcription factor binding to IGHM enhancer 3 | Altid | I 1 tilstand |
| THOC6THO complex subunit 6 | Altid | I 1 tilstand |
| THUMPD1THUMP domain 1 NAT10 acetyltransferase adaptor | Altid | I 1 tilstand |
| TIAM1TIAM Rac1 associated GEF 1 | Altid | I 1 tilstand |
| TLK2tousled like kinase 2 | Altid | I 1 tilstand |
| TMEM147transmembrane protein 147 | Altid | I 1 tilstand |
| TMEM216transmembrane protein 216 | Altid | I 3 tilstande |
| TMEM67transmembrane protein 67 | Altid | I 3 tilstande |
| TMLHEtrimethyllysine hydroxylase, epsilon | Altid | I 1 tilstand |
| TMTC3transmembrane O-mannosyltransferase targeting cadherins 3 | Altid | I 1 tilstand |
| TNIKTRAF2 and NCK interacting kinase | Altid | I 1 tilstand |
| TNPO2transportin 2 | Altid | I 1 tilstand |
| TNRC6Btrinucleotide repeat containing adaptor 6B | Altid | I 1 tilstand |
| TOE1target of EGR1, exonuclease | Altid | I 2 tilstande |
| TP53tumor protein p53 | Altid | I 1 tilstand |
| TPRKBTP53RK binding protein | Altid | I 1 tilstand |
| TRA2Btransformer 2 beta homolog | Altid | I 1 tilstand |
| TRAPPC14trafficking protein particle complex subunit 14 | Altid | I 1 tilstand |
| TRAPPC9trafficking protein particle complex subunit 9 | Altid | I 1 tilstand |
| TRIOtrio Rho guanine nucleotide exchange factor | Altid | I 2 tilstande |
| TRIP12thyroid hormone receptor interactor 12 | Altid | I 1 tilstand |
| TRMT10AtRNA methyltransferase 10A | Altid | I 2 tilstande |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Altid | I 1 tilstand |
| TSEN15tRNA splicing endonuclease subunit 15 | Altid | I 1 tilstand |
| TSHRthyroid stimulating hormone receptor | Altid | I 1 tilstand |
| TSPAN7tetraspanin 7 | Altid | I 1 tilstand |
| TTC5tetratricopeptide repeat domain 5 | Altid | I 1 tilstand |
| TTI1TELO2 interacting protein 1 | Altid | I 1 tilstand |
| TUBBtubulin beta class I | Altid | I 2 tilstande |
| TUBB2Btubulin beta 2B class IIb | Altid | I 4 tilstande |
| TUBB3tubulin beta 3 class III | Altid | I 3 tilstande |
| TUSC3tumor suppressor candidate 3 | Altid | I 1 tilstand |
| UBE2Aubiquitin conjugating enzyme E2 A | Altid | I 1 tilstand |
| UBR7ubiquitin protein ligase E3 component n-recognin 7 | Altid | I 1 tilstand |
| UFSP2UFM1 specific peptidase 2 | Altid | I 2 tilstande |
| UNC13Aunc-13 homolog A | Altid | I 1 tilstand |
| USP7ubiquitin specific peptidase 7 | Altid | I 2 tilstande |
| USP9Xubiquitin specific peptidase 9 X-linked | Altid | I 2 tilstande |
| VAMP2vesicle associated membrane protein 2 | Altid | I 1 tilstand |
| VARS1valyl-tRNA synthetase 1 | Altid | I 1 tilstand |
| VLDLRvery low density lipoprotein receptor | Altid | I 2 tilstande |
| VPS13Bvacuolar protein sorting 13 homolog B | Altid | I 2 tilstande |
| VPS35LVPS35 endosomal protein sorting factor like | Altid | I 2 tilstande |
| VPS53VPS53 subunit of GARP complex | Altid | I 1 tilstand |
| WARS1tryptophanyl-tRNA synthetase 1 | Altid | I 1 tilstand |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Altid | I 3 tilstande |
| WASHC4WASH complex subunit 4 | Altid | I 1 tilstand |
| WBP4WW domain binding protein 4 | Altid | I 1 tilstand |
| WDFY3WD repeat and FYVE domain containing 3 | Altid | I 1 tilstand |
| WDR26WD repeat domain 26 | Altid | I 2 tilstande |
| WDR37WD repeat domain 37 | Altid | I 1 tilstand |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Altid | I 1 tilstand |
| WDR62WD repeat domain 62 | Altid | I 1 tilstand |
| WDR73WD repeat domain 73 | Altid | I 2 tilstande |
| WDR83OSWD repeat domain 83 opposite strand | Altid | I 1 tilstand |
| WSB2WD repeat and SOCS box containing 2 | Altid | I 1 tilstand |
| WWOXWW domain containing oxidoreductase | Altid | I 1 tilstand |
| YAP1Yes1 associated transcriptional regulator | Altid | I 2 tilstande |
| YME1L1YME1 like 1 ATPase | Altid | I 1 tilstand |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Altid | I 2 tilstande |
| YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | Altid | I 1 tilstand |
| YY1YY1 transcription factor | Altid | I 1 tilstand |
| ZBTB24zinc finger and BTB domain containing 24 | Altid | I 2 tilstande |
| ZBTB7Azinc finger and BTB domain containing 7A | Altid | I 1 tilstand |
| ZC3H14zinc finger CCCH-type containing 14 | Altid | I 1 tilstand |
| ZDHHC9zDHHC palmitoyltransferase 9 | Altid | I 2 tilstande |
| ZFXzinc finger protein X-linked | Altid | I 1 tilstand |
| ZIC1Zic family zinc finger 1 | Altid | I 3 tilstande |
| ZMIZ1zinc finger MIZ-type containing 1 | Altid | I 1 tilstand |
| ZNF668zinc finger protein 668 | Altid | I 1 tilstand |
| ZNF711ZFX family zinc finger ZNF711 | Altid | I 1 tilstand |
| ZSWIM6zinc finger SWIM-type containing 6 | Altid | I 3 tilstande |
| ACDACD shelterin complex subunit and telomerase recruitment factor | Meget ofte (80–99 %) | I 1 tilstand |
| ACTBactin beta | Meget ofte (80–99 %) | I 3 tilstande |
| ADAMTS3ADAM metallopeptidase with thrombospondin type 1 motif 3 | Meget ofte (80–99 %) | I 1 tilstand |
| ADSLadenylosuccinate lyase | Meget ofte (80–99 %) | I 2 tilstande |
| AFF4ALF transcription elongation factor 4 | Meget ofte (80–99 %) | I 2 tilstande |
| AGAaspartylglucosaminidase | Meget ofte (80–99 %) | I 2 tilstande |
| AHSGalpha 2-HS glycoprotein | Meget ofte (80–99 %) | I 1 tilstand |
| ALDH4A1aldehyde dehydrogenase 4 family member A1 | Meget ofte (80–99 %) | I 2 tilstande |
| ALDH5A1aldehyde dehydrogenase 5 family member A1 | Meget ofte (80–99 %) | I 2 tilstande |
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Meget ofte (80–99 %) | I 1 tilstand |
| ALG11ALG11 alpha-1,2-mannosyltransferase | Meget ofte (80–99 %) | I 1 tilstand |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Meget ofte (80–99 %) | I 2 tilstande |
| ANK1ankyrin 1 | Meget ofte (80–99 %) | I 1 tilstand |
| AP1S1adaptor related protein complex 1 subunit sigma 1 | Meget ofte (80–99 %) | I 2 tilstande |
| APPamyloid beta precursor protein | Meget ofte (80–99 %) | I 2 tilstande |
| ARID2AT-rich interaction domain 2 | Meget ofte (80–99 %) | I 1 tilstand |
| ARL3ARF like GTPase 3 | Meget ofte (80–99 %) | I 1 tilstand |
| ATAD3AATPase family AAA domain containing 3A | Meget ofte (80–99 %) | I 2 tilstande |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Meget ofte (80–99 %) | I 4 tilstande |
| ATP7AATPase copper transporting alpha | Meget ofte (80–99 %) | I 3 tilstande |
| ATP7BATPase copper transporting beta | Meget ofte (80–99 %) | I 1 tilstand |
| ATRATR checkpoint kinase | Meget ofte (80–99 %) | I 2 tilstande |
| ATRIPATR interacting protein | Meget ofte (80–99 %) | I 1 tilstand |
| AUTS2activator of transcription and developmental regulator AUTS2 | Meget ofte (80–99 %) | I 2 tilstande |
| B3GLCTbeta 3-glucosyltransferase | Meget ofte (80–99 %) | I 2 tilstande |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| B9D2B9 domain containing 2 | Meget ofte (80–99 %) | I 1 tilstand |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Meget ofte (80–99 %) | I 1 tilstand |
| BCRBCR activator of RhoGEF and GTPase | Meget ofte (80–99 %) | I 1 tilstand |
| BRD4bromodomain containing 4 | Meget ofte (80–99 %) | I 2 tilstande |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Meget ofte (80–99 %) | I 1 tilstand |
| CA8carbonic anhydrase 8 (inactive) | Meget ofte (80–99 %) | I 1 tilstand |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Meget ofte (80–99 %) | I 1 tilstand |
| CACNA1Icalcium voltage-gated channel subunit alpha1 I | Meget ofte (80–99 %) | I 1 tilstand |
| CANT1calcium activated nucleotidase 1 | Meget ofte (80–99 %) | I 2 tilstande |
| CASKcalcium/calmodulin dependent serine protein kinase | Meget ofte (80–99 %) | I 2 tilstande |
| CASZ1castor zinc finger 1 | Meget ofte (80–99 %) | I 1 tilstand |
| CBY1chibby 1, beta catenin antagonist | Meget ofte (80–99 %) | I 1 tilstand |
| CCBE1collagen and calcium binding EGF domains 1 | Meget ofte (80–99 %) | I 2 tilstande |
| CCDC22CCC complex scaffolding subunit CCDC22 | Meget ofte (80–99 %) | I 2 tilstande |
| CD96CD96 molecule | Meget ofte (80–99 %) | I 1 tilstand |
| CDK4cyclin dependent kinase 4 | Meget ofte (80–99 %) | I 1 tilstand |
| CDKL5cyclin dependent kinase like 5 | Meget ofte (80–99 %) | I 3 tilstande |
| CENPEcentromere protein E | Meget ofte (80–99 %) | I 1 tilstand |
| CEP120centrosomal protein 120 | Meget ofte (80–99 %) | I 2 tilstande |
| CEP41centrosomal protein 41 | Meget ofte (80–99 %) | I 3 tilstande |
| CKAP2Lcytoskeleton associated protein 2L | Meget ofte (80–99 %) | I 2 tilstande |
| CLIP2CAP-Gly domain containing linker protein 2 | Meget ofte (80–99 %) | I 1 tilstand |
| CLN8CLN8 transmembrane ER and ERGIC protein | Meget ofte (80–99 %) | I 2 tilstande |
| COL4A1collagen type IV alpha 1 chain | Meget ofte (80–99 %) | I 2 tilstande |
| CPAPcentrosome assembly and centriole elongation protein | Meget ofte (80–99 %) | I 1 tilstand |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Meget ofte (80–99 %) | I 3 tilstande |
| CRKLCRK like proto-oncogene, adaptor protein | Meget ofte (80–99 %) | I 1 tilstand |
| CRPPACDP-L-ribitol pyrophosphorylase A | Meget ofte (80–99 %) | I 2 tilstande |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| CSNK2A1casein kinase 2 alpha 1 | Meget ofte (80–99 %) | I 1 tilstand |
| CSPP1centrosome and spindle pole associated protein 1 | Meget ofte (80–99 %) | I 2 tilstande |
| DDB2damage specific DNA binding protein 2 | Meget ofte (80–99 %) | I 1 tilstand |
| DDHD2DDHD domain containing 2 | Meget ofte (80–99 %) | I 2 tilstande |
| DGCR2DiGeorge syndrome critical region gene 2 | Meget ofte (80–99 %) | I 1 tilstand |
| DGCR6DiGeorge syndrome critical region gene 6 | Meget ofte (80–99 %) | I 1 tilstand |
| DGCR8DGCR8 microprocessor complex subunit | Meget ofte (80–99 %) | I 1 tilstand |
| DHCR2424-dehydrocholesterol reductase | Meget ofte (80–99 %) | I 1 tilstand |
| DHCR77-dehydrocholesterol reductase | Meget ofte (80–99 %) | I 2 tilstande |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Meget ofte (80–99 %) | I 1 tilstand |
| DKC1dyskerin pseudouridine synthase 1 | Meget ofte (80–99 %) | I 2 tilstande |
| DMXL2Dmx like 2 | Meget ofte (80–99 %) | I 1 tilstand |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Meget ofte (80–99 %) | I 1 tilstand |
| DPYDdihydropyrimidine dehydrogenase | Meget ofte (80–99 %) | I 2 tilstande |
| DPYSL5dihydropyrimidinase like 5 | Meget ofte (80–99 %) | I 1 tilstand |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Meget ofte (80–99 %) | I 2 tilstande |
| EBF3EBF transcription factor 3 | Meget ofte (80–99 %) | I 2 tilstande |
| EFTUD2elongation factor Tu GTP binding domain containing 2 | Meget ofte (80–99 %) | I 1 tilstand |
| EHMT1euchromatic histone lysine methyltransferase 1 | Meget ofte (80–99 %) | I 3 tilstande |
| EIF4Heukaryotic translation initiation factor 4H | Meget ofte (80–99 %) | I 1 tilstand |
| ELMO2engulfment and cell motility 2 | Meget ofte (80–99 %) | I 1 tilstand |
| ELNelastin | Meget ofte (80–99 %) | I 2 tilstande |
| EPG5ectopic P-granules 5 autophagy tethering factor | Meget ofte (80–99 %) | I 1 tilstand |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Meget ofte (80–99 %) | I 1 tilstand |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Meget ofte (80–99 %) | I 4 tilstande |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Meget ofte (80–99 %) | I 3 tilstande |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Meget ofte (80–99 %) | I 5 tilstande |
| ERCC5ERCC excision repair 5, endonuclease | Meget ofte (80–99 %) | I 2 tilstande |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Meget ofte (80–99 %) | I 3 tilstande |
| ESS2ess-2 spliceosome associated protein | Meget ofte (80–99 %) | I 1 tilstand |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Meget ofte (80–99 %) | I 2 tilstande |
| FANCBFA complementation group B | Meget ofte (80–99 %) | I 3 tilstande |
| FAT4FAT atypical cadherin 4 | Meget ofte (80–99 %) | I 2 tilstande |
| FBN1fibrillin 1 | Meget ofte (80–99 %) | I 1 tilstand |
| FBXW11F-box and WD repeat domain containing 11 | Meget ofte (80–99 %) | I 1 tilstand |
| FBXW7F-box and WD repeat domain containing 7 | Meget ofte (80–99 %) | I 1 tilstand |
| FGFR1fibroblast growth factor receptor 1 | Meget ofte (80–99 %) | I 8 tilstande |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Meget ofte (80–99 %) | I 1 tilstand |
| FKRPfukutin related protein | Meget ofte (80–99 %) | I 4 tilstande |
| FKTNfukutin | Meget ofte (80–99 %) | I 3 tilstande |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Meget ofte (80–99 %) | I 2 tilstande |
| FOXE1forkhead box E1 | Meget ofte (80–99 %) | I 1 tilstand |
| GABRB3gamma-aminobutyric acid type A receptor subunit beta3 | Meget ofte (80–99 %) | I 3 tilstande |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Meget ofte (80–99 %) | I 2 tilstande |
| GBE11,4-alpha-glucan branching enzyme 1 | Meget ofte (80–99 %) | I 1 tilstand |
| GMPPAGDP-mannose pyrophosphorylase A | Meget ofte (80–99 %) | I 2 tilstande |
| GNAO1G protein subunit alpha o1 | Meget ofte (80–99 %) | I 1 tilstand |
| GORABgolgin, RAB6 interacting | Meget ofte (80–99 %) | I 1 tilstand |
| GPC4glypican 4 | Meget ofte (80–99 %) | I 2 tilstande |
| GTF2Igeneral transcription factor IIi | Meget ofte (80–99 %) | I 1 tilstand |
| GTF2IRD1GTF2I repeat domain containing 1 | Meget ofte (80–99 %) | I 1 tilstand |
| GTF2IRD2GTF2I repeat domain containing 2 | Meget ofte (80–99 %) | I 1 tilstand |
| GUSBglucuronidase beta | Meget ofte (80–99 %) | I 2 tilstande |
| HBA1hemoglobin subunit alpha 1 | Meget ofte (80–99 %) | I 1 tilstand |
| HBA2hemoglobin subunit alpha 2 | Meget ofte (80–99 %) | I 1 tilstand |
| HDAC4histone deacetylase 4 | Meget ofte (80–99 %) | I 2 tilstande |
| HDAC8histone deacetylase 8 | Meget ofte (80–99 %) | I 3 tilstande |
| HHAThedgehog acyltransferase | Meget ofte (80–99 %) | I 1 tilstand |
| HRASHRas proto-oncogene, GTPase | Meget ofte (80–99 %) | I 4 tilstande |
| HSPG2heparan sulfate proteoglycan 2 | Meget ofte (80–99 %) | I 3 tilstande |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Meget ofte (80–99 %) | I 1 tilstand |
| IDUAalpha-L-iduronidase | Meget ofte (80–99 %) | I 2 tilstande |
| ITGB6integrin subunit beta 6 | Meget ofte (80–99 %) | I 1 tilstand |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Meget ofte (80–99 %) | I 3 tilstande |
| KAT6Blysine acetyltransferase 6B | Meget ofte (80–99 %) | I 3 tilstande |
| KATNB1katanin regulatory subunit B1 | Meget ofte (80–99 %) | I 1 tilstand |
| KATNIPkatanin interacting protein | Meget ofte (80–99 %) | I 1 tilstand |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Meget ofte (80–99 %) | I 1 tilstand |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Meget ofte (80–99 %) | I 1 tilstand |
| KCNJ10potassium inwardly rectifying channel subfamily J member 10 | Meget ofte (80–99 %) | I 4 tilstande |
| KCNJ6potassium inwardly rectifying channel subfamily J member 6 | Meget ofte (80–99 %) | I 1 tilstand |
| KDM5Clysine demethylase 5C | Meget ofte (80–99 %) | I 1 tilstand |
| KIAA0586KIAA0586 | Meget ofte (80–99 %) | I 1 tilstand |
| KIAA0753KIAA0753 | Meget ofte (80–99 %) | I 2 tilstande |
| KIF7kinesin family member 7 | Meget ofte (80–99 %) | I 3 tilstande |
| KMT2Dlysine methyltransferase 2D | Meget ofte (80–99 %) | I 2 tilstande |
| KPTNkaptin, actin binding protein | Meget ofte (80–99 %) | I 2 tilstande |
| LAMP2lysosome associated membrane protein 2 | Meget ofte (80–99 %) | I 2 tilstande |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Meget ofte (80–99 %) | I 3 tilstande |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| LGI1leucine rich glioma inactivated 1 | Meget ofte (80–99 %) | I 2 tilstande |
| LIMK1LIM domain kinase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| LRP2LDL receptor related protein 2 | Meget ofte (80–99 %) | I 1 tilstand |
| LUZP1leucine zipper protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| LYSTlysosomal trafficking regulator | Meget ofte (80–99 %) | I 3 tilstande |
| MAGmyelin associated glycoprotein | Meget ofte (80–99 %) | I 1 tilstand |
| MAN2B1mannosidase alpha class 2B member 1 | Meget ofte (80–99 %) | I 2 tilstande |
| MAP2K1mitogen-activated protein kinase kinase 1 | Meget ofte (80–99 %) | I 4 tilstande |
| MAP2K2mitogen-activated protein kinase kinase 2 | Meget ofte (80–99 %) | I 2 tilstande |
| MAPK1mitogen-activated protein kinase 1 | Meget ofte (80–99 %) | I 2 tilstande |
| MAPK10mitogen-activated protein kinase 10 | Meget ofte (80–99 %) | I 1 tilstand |
| MAU2MAU2 sister chromatid cohesion factor | Meget ofte (80–99 %) | I 1 tilstand |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Meget ofte (80–99 %) | I 2 tilstande |
| MCOLN1mucolipin TRP cation channel 1 | Meget ofte (80–99 %) | I 2 tilstande |
| MEGF8multiple EGF like domains 8 | Meget ofte (80–99 %) | I 1 tilstand |
| METTL27methyltransferase like 27 | Meget ofte (80–99 %) | I 1 tilstand |
| MIR17HGmiR-17-92a-1 cluster host gene | Meget ofte (80–99 %) | I 1 tilstand |
| MKKSMKKS centrosomal shuttling protein | Meget ofte (80–99 %) | I 3 tilstande |
| MLYCDmalonyl-CoA decarboxylase | Meget ofte (80–99 %) | I 1 tilstand |
| MMACHCmetabolism of cobalamin associated C | Meget ofte (80–99 %) | I 2 tilstande |
| MMADHCmetabolism of cobalamin associated D | Meget ofte (80–99 %) | I 2 tilstande |
| MMP23Bmatrix metallopeptidase 23B | Meget ofte (80–99 %) | I 1 tilstand |
| MN1MN1 proto-oncogene, transcriptional regulator | Meget ofte (80–99 %) | I 1 tilstand |
| MORC2MORC family CW-type zinc finger 2 | Meget ofte (80–99 %) | I 2 tilstande |
| MSL2MSL complex subunit 2 | Meget ofte (80–99 %) | I 1 tilstand |
| MVKmevalonate kinase | Meget ofte (80–99 %) | I 1 tilstand |
| MYO5Amyosin VA | Meget ofte (80–99 %) | I 3 tilstande |
| NAGAalpha-N-acetylgalactosaminidase | Meget ofte (80–99 %) | I 1 tilstand |
| NCF1neutrophil cytosolic factor 1 | Meget ofte (80–99 %) | I 1 tilstand |
| NDE1nudE neurodevelopment protein 1 | Meget ofte (80–99 %) | I 2 tilstande |
| NEUROD2neuronal differentiation 2 | Meget ofte (80–99 %) | I 1 tilstand |
| NINninein | Meget ofte (80–99 %) | I 1 tilstand |
| NIPBLNIPBL cohesin loading factor | Meget ofte (80–99 %) | I 2 tilstande |
| NPHP1nephrocystin 1 | Meget ofte (80–99 %) | I 3 tilstande |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Meget ofte (80–99 %) | I 2 tilstande |
| NRASNRAS proto-oncogene, GTPase | Meget ofte (80–99 %) | I 3 tilstande |
| NSD1nuclear receptor binding SET domain protein 1 | Meget ofte (80–99 %) | I 3 tilstande |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Meget ofte (80–99 %) | I 2 tilstande |
| NSMCE2NSE2 SUMO ligase component of SMC5/6 complex | Meget ofte (80–99 %) | I 1 tilstand |
| NT5C25'-nucleotidase, cytosolic II | Meget ofte (80–99 %) | I 2 tilstande |
| NTNG1netrin G1 | Meget ofte (80–99 %) | I 1 tilstand |
| NUP85nucleoporin 85 | Meget ofte (80–99 %) | I 1 tilstand |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Meget ofte (80–99 %) | I 2 tilstande |
| OFD1OFD1 centriole and centriolar satellite protein | Meget ofte (80–99 %) | I 4 tilstande |
| PACS1phosphofurin acidic cluster sorting protein 1 | Meget ofte (80–99 %) | I 2 tilstande |
| PARNpoly(A)-specific ribonuclease | Meget ofte (80–99 %) | I 1 tilstand |
| PAX6paired box 6 | Meget ofte (80–99 %) | I 3 tilstande |
| PCDHGC4protocadherin gamma subfamily C, 4 | Meget ofte (80–99 %) | I 1 tilstand |
| PCNTpericentrin | Meget ofte (80–99 %) | I 3 tilstande |
| PDE6Dphosphodiesterase 6D | Meget ofte (80–99 %) | I 2 tilstande |
| PDPNpodoplanin | Meget ofte (80–99 %) | I 1 tilstand |
| PEX1peroxisomal biogenesis factor 1 | Meget ofte (80–99 %) | I 2 tilstande |
| PEX6peroxisomal biogenesis factor 6 | Meget ofte (80–99 %) | I 2 tilstande |
| PHF6PHD finger protein 6 | Meget ofte (80–99 %) | I 1 tilstand |
| PIBF1progesterone immunomodulatory binding factor 1 | Meget ofte (80–99 %) | I 1 tilstand |
| PIDD1p53-induced death domain protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Meget ofte (80–99 %) | I 2 tilstande |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Meget ofte (80–99 %) | I 1 tilstand |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Meget ofte (80–99 %) | I 1 tilstand |
| PMPCApeptidase, mitochondrial processing subunit alpha | Meget ofte (80–99 %) | I 2 tilstande |
| PNKPpolynucleotide kinase 3'-phosphatase | Meget ofte (80–99 %) | I 1 tilstand |
| POGZpogo transposable element derived with ZNF domain | Meget ofte (80–99 %) | I 2 tilstande |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Meget ofte (80–99 %) | I 2 tilstande |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Meget ofte (80–99 %) | I 2 tilstande |
| POMKprotein O-mannose kinase | Meget ofte (80–99 %) | I 1 tilstand |
| POMT2protein O-mannosyltransferase 2 | Meget ofte (80–99 %) | I 2 tilstande |
| PPFIBP1PPFIB scaffold protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| PPM1Dprotein phosphatase, Mg2+/Mn2+ dependent 1D | Meget ofte (80–99 %) | I 1 tilstand |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Meget ofte (80–99 %) | I 2 tilstande |
| PQBP1polyglutamine binding protein 1 | Meget ofte (80–99 %) | I 3 tilstande |
| PRDM16PR/SET domain 16 | Meget ofte (80–99 %) | I 1 tilstand |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Meget ofte (80–99 %) | I 2 tilstande |
| PRKCZprotein kinase C zeta | Meget ofte (80–99 %) | I 1 tilstand |
| PRMT7protein arginine methyltransferase 7 | Meget ofte (80–99 %) | I 2 tilstande |
| PSMC3proteasome 26S subunit, ATPase 3 | Meget ofte (80–99 %) | I 1 tilstand |
| PTCH1patched 1 | Meget ofte (80–99 %) | I 9 tilstande |
| PTENphosphatase and tensin homolog | Meget ofte (80–99 %) | I 7 tilstande |
| PUF60poly(U) binding splicing factor 60 | Meget ofte (80–99 %) | I 1 tilstand |
| PYCR1pyrroline-5-carboxylate reductase 1 | Meget ofte (80–99 %) | I 2 tilstande |
| PYCR2pyrroline-5-carboxylate reductase 2 | Meget ofte (80–99 %) | I 1 tilstand |
| QDPRquinoid dihydropteridine reductase | Meget ofte (80–99 %) | I 2 tilstande |
| RAB23RAB23, member RAS oncogene family | Meget ofte (80–99 %) | I 2 tilstande |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Meget ofte (80–99 %) | I 2 tilstande |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Meget ofte (80–99 %) | I 2 tilstande |
| RAD21RAD21 cohesin complex component | Meget ofte (80–99 %) | I 2 tilstande |
| RB1RB transcriptional corepressor 1 | Meget ofte (80–99 %) | I 1 tilstand |
| RELNreelin | Meget ofte (80–99 %) | I 2 tilstande |
| REREarginine-glutamic acid dipeptide repeats | Meget ofte (80–99 %) | I 2 tilstande |
| RFC2replication factor C subunit 2 | Meget ofte (80–99 %) | I 1 tilstand |
| RNF125ring finger protein 125 | Meget ofte (80–99 %) | I 1 tilstand |
| RNU4ATACRNA, U4atac small nuclear | Meget ofte (80–99 %) | I 3 tilstande |
| ROBO1roundabout guidance receptor 1 | Meget ofte (80–99 %) | I 2 tilstande |
| RPGRIP1LRPGRIP1 like | Meget ofte (80–99 %) | I 2 tilstande |
| RTEL1regulator of telomere elongation helicase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| RXYLT1ribitol xylosyltransferase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| SATB1SATB homeobox 1 | Meget ofte (80–99 %) | I 2 tilstande |
| SATB2SATB homeobox 2 | Meget ofte (80–99 %) | I 2 tilstande |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Meget ofte (80–99 %) | I 4 tilstande |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Meget ofte (80–99 %) | I 1 tilstand |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Meget ofte (80–99 %) | I 2 tilstande |
| SETD1ASET domain containing 1A, histone lysine methyltransferase | Meget ofte (80–99 %) | I 1 tilstand |
| SGSM3small G protein signaling modulator 3 | Meget ofte (80–99 %) | I 1 tilstand |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Meget ofte (80–99 %) | I 2 tilstande |
| SIK1salt inducible kinase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| SIL1SIL1 nucleotide exchange factor | Meget ofte (80–99 %) | I 2 tilstande |
| SKISKI proto-oncogene | Meget ofte (80–99 %) | I 3 tilstande |
| SLC12A6solute carrier family 12 member 6 | Meget ofte (80–99 %) | I 2 tilstande |
| SLC16A2solute carrier family 16 member 2 | Meget ofte (80–99 %) | I 2 tilstande |
| SLC1A4solute carrier family 1 member 4 | Meget ofte (80–99 %) | I 2 tilstande |
| SLC25A22solute carrier family 25 member 22 | Meget ofte (80–99 %) | I 1 tilstand |
| SLC29A3solute carrier family 29 member 3 | Meget ofte (80–99 %) | I 1 tilstand |
| SLC35A2solute carrier family 35 member A2 | Meget ofte (80–99 %) | I 2 tilstande |
| SMAD4SMAD family member 4 | Meget ofte (80–99 %) | I 2 tilstande |
| SMC1Astructural maintenance of chromosomes 1A | Meget ofte (80–99 %) | I 4 tilstande |
| SNAP29synaptosome associated protein 29 | Meget ofte (80–99 %) | I 2 tilstande |
| SOSTsclerostin | Meget ofte (80–99 %) | I 1 tilstand |
| SOX3SRY-box transcription factor 3 | Meget ofte (80–99 %) | I 2 tilstande |
| SOX6SRY-box transcription factor 6 | Meget ofte (80–99 %) | I 1 tilstand |
| SP7Sp7 transcription factor | Meget ofte (80–99 %) | I 1 tilstand |
| SPTBN1spectrin beta, non-erythrocytic 1 | Meget ofte (80–99 %) | I 1 tilstand |
| STRA6signaling receptor and transporter of retinol STRA6 | Meget ofte (80–99 %) | I 1 tilstand |
| STX1Asyntaxin 1A | Meget ofte (80–99 %) | I 1 tilstand |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Meget ofte (80–99 %) | I 2 tilstande |
| SUFUSUFU negative regulator of hedgehog signaling | Meget ofte (80–99 %) | I 3 tilstande |
| SUMF1sulfatase modifying factor 1 | Meget ofte (80–99 %) | I 2 tilstande |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Meget ofte (80–99 %) | I 2 tilstande |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Meget ofte (80–99 %) | I 4 tilstande |
| SYT14synaptotagmin 14 | Meget ofte (80–99 %) | I 1 tilstand |
| TAF1TATA-box binding protein associated factor 1 | Meget ofte (80–99 %) | I 2 tilstande |
| TAF4TATA-box binding protein associated factor 4 | Meget ofte (80–99 %) | I 1 tilstand |
| TANC2tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 | Meget ofte (80–99 %) | I 1 tilstand |
| TATtyrosine aminotransferase | Meget ofte (80–99 %) | I 2 tilstande |
| TBC1D7TBC1 domain family member 7 | Meget ofte (80–99 %) | I 2 tilstande |
| TBL2transducin beta like 2 | Meget ofte (80–99 %) | I 1 tilstand |
| TBR1T-box brain transcription factor 1 | Meget ofte (80–99 %) | I 1 tilstand |
| TBX1T-box transcription factor 1 | Meget ofte (80–99 %) | I 4 tilstande |
| TCF4transcription factor 4 | Meget ofte (80–99 %) | I 2 tilstande |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Meget ofte (80–99 %) | I 1 tilstand |
| TCTN1tectonic family member 1 | Meget ofte (80–99 %) | I 1 tilstand |
| TCTN2tectonic family member 2 | Meget ofte (80–99 %) | I 1 tilstand |
| TCTN3tectonic family member 3 | Meget ofte (80–99 %) | I 4 tilstande |
| TDP2tyrosyl-DNA phosphodiesterase 2 | Meget ofte (80–99 %) | I 2 tilstande |
| TEFMtranscription elongation factor, mitochondrial | Meget ofte (80–99 %) | I 1 tilstand |
| TERCtelomerase RNA component | Meget ofte (80–99 %) | I 1 tilstand |
| TERTtelomerase reverse transcriptase | Meget ofte (80–99 %) | I 1 tilstand |
| TET3tet methylcytosine dioxygenase 3 | Meget ofte (80–99 %) | I 1 tilstand |
| THOC2THO complex subunit 2 | Meget ofte (80–99 %) | I 1 tilstand |
| TINF2TERF1 interacting nuclear factor 2 | Meget ofte (80–99 %) | I 1 tilstand |
| TMCO1transmembrane and coiled-coil domains 1 | Meget ofte (80–99 %) | I 2 tilstande |
| TMEM138transmembrane protein 138 | Meget ofte (80–99 %) | I 1 tilstand |
| TMEM218transmembrane protein 218 | Meget ofte (80–99 %) | I 1 tilstand |
| TMEM231transmembrane protein 231 | Meget ofte (80–99 %) | I 2 tilstande |
| TMEM237transmembrane protein 237 | Meget ofte (80–99 %) | I 3 tilstande |
| TMEM270transmembrane protein 270 | Meget ofte (80–99 %) | I 1 tilstand |
| TNFRSF11ATNF receptor superfamily member 11a | Meget ofte (80–99 %) | I 1 tilstand |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Meget ofte (80–99 %) | I 1 tilstand |
| TRAIPTRAF interacting protein | Meget ofte (80–99 %) | I 1 tilstand |
| TRIM8tripartite motif containing 8 | Meget ofte (80–99 %) | I 1 tilstand |
| TRRAPtransformation/transcription domain associated protein | Meget ofte (80–99 %) | I 1 tilstand |
| TSHZ3teashirt zinc finger homeobox 3 | Meget ofte (80–99 %) | I 1 tilstand |
| UBAP2Lubiquitin associated protein 2 like | Meget ofte (80–99 %) | I 1 tilstand |
| UBE3Aubiquitin protein ligase E3A | Meget ofte (80–99 %) | I 3 tilstande |
| UBE3Bubiquitin protein ligase E3B | Meget ofte (80–99 %) | I 1 tilstand |
| UBE4Bubiquitination factor E4B | Meget ofte (80–99 %) | I 1 tilstand |
| UPF3BUPF3B regulator of nonsense mediated mRNA decay | Meget ofte (80–99 %) | I 2 tilstande |
| VPS11VPS11 core subunit of CORVET and HOPS complexes | Meget ofte (80–99 %) | I 2 tilstande |
| VPS37DVPS37D subunit of ESCRT-I | 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 |
| WASHC5WASH complex subunit 5 | Meget ofte (80–99 %) | I 1 tilstand |
| WDR81WD repeat domain 81 | Meget ofte (80–99 %) | I 2 tilstande |
| WLSWnt ligand secretion mediator | Meget ofte (80–99 %) | I 1 tilstand |
| WNT7BWnt family member 7B | Meget ofte (80–99 %) | I 1 tilstand |
| XPAXPA, DNA damage recognition and repair factor | Meget ofte (80–99 %) | I 2 tilstande |
| XPCXPC complex subunit, DNA damage recognition and repair factor | Meget ofte (80–99 %) | I 1 tilstand |
| XYLT1xylosyltransferase 1 | Meget ofte (80–99 %) | I 2 tilstande |
| ZBTB18zinc finger and BTB domain containing 18 | Meget ofte (80–99 %) | I 2 tilstande |
| ZBTB20zinc finger and BTB domain containing 20 | Meget ofte (80–99 %) | I 2 tilstande |
| ZEB2zinc finger E-box binding homeobox 2 | Meget ofte (80–99 %) | I 2 tilstande |
| ZMYM3zinc finger MYM-type containing 3 | Meget ofte (80–99 %) | I 1 tilstand |
| ZNF142zinc finger protein 142 | Meget ofte (80–99 %) | I 1 tilstand |
| ZNF423zinc finger protein 423 | Meget ofte (80–99 %) | I 1 tilstand |
| ZNF592zinc finger protein 592 | Meget ofte (80–99 %) | I 1 tilstand |
| AARS1alanyl-tRNA synthetase 1 | Ofte (30–79 %) | I 1 tilstand |
| AASSaminoadipate-semialdehyde synthase | Ofte (30–79 %) | I 1 tilstand |
| ABCC8ATP binding cassette subfamily C member 8 | Ofte (30–79 %) | I 3 tilstande |
| ACTA2actin alpha 2, smooth muscle | Ofte (30–79 %) | I 1 tilstand |
| ADCY3adenylate cyclase 3 | Ofte (30–79 %) | I 1 tilstand |
| ADGRL1adhesion G protein-coupled receptor L1 | Ofte (30–79 %) | I 1 tilstand |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Ofte (30–79 %) | I 1 tilstand |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Ofte (30–79 %) | I 1 tilstand |
| ANO1anoctamin 1 | Ofte (30–79 %) | I 1 tilstand |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Ofte (30–79 %) | I 1 tilstand |
| AP5Z1adaptor related protein complex 5 subunit zeta 1 | Ofte (30–79 %) | I 2 tilstande |
| ARL6ARF like GTPase 6 | Ofte (30–79 %) | I 3 tilstande |
| ARSIarylsulfatase family member I | Ofte (30–79 %) | I 1 tilstand |
| ASAH1N-acylsphingosine amidohydrolase 1 | Ofte (30–79 %) | I 3 tilstande |
| ASCL1achaete-scute family bHLH transcription factor 1 | Ofte (30–79 %) | I 1 tilstand |
| ASLargininosuccinate lyase | Ofte (30–79 %) | I 2 tilstande |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Ofte (30–79 %) | I 4 tilstande |
| ATP5F1AATP synthase F1 subunit alpha | Ofte (30–79 %) | I 1 tilstand |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Ofte (30–79 %) | I 2 tilstande |
| ATXN7L3ataxin 7 like 3 | Ofte (30–79 %) | I 1 tilstand |
| B4GALNT1beta-1,4-N-acetyl-galactosaminyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| BBS1Bardet-Biedl syndrome 1 | Ofte (30–79 %) | I 2 tilstande |
| BBS4Bardet-Biedl syndrome 4 | Ofte (30–79 %) | I 2 tilstande |
| BBS9Bardet-Biedl syndrome 9 | Ofte (30–79 %) | I 2 tilstande |
| BDNFbrain derived neurotrophic factor | Ofte (30–79 %) | I 1 tilstand |
| BMPR1Abone morphogenetic protein receptor type 1A | Ofte (30–79 %) | I 1 tilstand |
| BRCA1BRCA1 DNA repair associated | Ofte (30–79 %) | I 2 tilstande |
| BRCA2BRCA2 DNA repair associated | Ofte (30–79 %) | I 1 tilstand |
| BRIP1BRCA1 interacting DNA helicase 1 | Ofte (30–79 %) | I 1 tilstand |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Ofte (30–79 %) | I 1 tilstand |
| BUB3BUB3 mitotic checkpoint protein | Ofte (30–79 %) | I 1 tilstand |
| BUD13BUD13 spliceosome associated protein | Ofte (30–79 %) | I 1 tilstand |
| C2CD3C2 domain containing 3 centriole elongation regulator | Ofte (30–79 %) | I 1 tilstand |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Ofte (30–79 %) | I 1 tilstand |
| CACNA1Dcalcium voltage-gated channel subunit alpha1 D | Ofte (30–79 %) | I 1 tilstand |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Ofte (30–79 %) | I 1 tilstand |
| CAMTA1calmodulin binding transcription activator 1 | Ofte (30–79 %) | I 1 tilstand |
| CARS2cysteinyl-tRNA synthetase 2, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| CCDC28Bcoiled-coil domain containing 28B | Ofte (30–79 %) | I 1 tilstand |
| CDC42cell division cycle 42 | Ofte (30–79 %) | I 2 tilstande |
| CDC42BPBCDC42 binding protein kinase beta | Ofte (30–79 %) | I 1 tilstand |
| CDCA7cell division cycle associated 7 | Ofte (30–79 %) | I 2 tilstande |
| CDH2cadherin 2 | Ofte (30–79 %) | I 1 tilstand |
| CDONcell adhesion associated, oncogene regulated | Ofte (30–79 %) | I 7 tilstande |
| CEP83centrosomal protein 83 | Ofte (30–79 %) | I 1 tilstand |
| CEP85Lcentrosomal protein 85L | Ofte (30–79 %) | I 1 tilstand |
| CHD1chromodomain helicase DNA binding protein 1 | Ofte (30–79 %) | I 2 tilstande |
| CHD5chromodomain helicase DNA binding protein 5 | Ofte (30–79 %) | I 1 tilstand |
| CHRNA7cholinergic receptor nicotinic alpha 7 subunit | Ofte (30–79 %) | I 1 tilstand |
| CHSY1chondroitin sulfate synthase 1 | Ofte (30–79 %) | I 1 tilstand |
| CLDN1claudin 1 | Ofte (30–79 %) | I 1 tilstand |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| CLPBClpB family mitochondrial disaggregase | Ofte (30–79 %) | I 2 tilstande |
| COA8cytochrome c oxidase assembly factor 8 | Ofte (30–79 %) | I 2 tilstande |
| COG2component of oligomeric golgi complex 2 | Ofte (30–79 %) | I 1 tilstand |
| COG6component of oligomeric golgi complex 6 | Ofte (30–79 %) | I 3 tilstande |
| COL3A1collagen type III alpha 1 chain | Ofte (30–79 %) | I 1 tilstand |
| COLEC10collectin subfamily member 10 | Ofte (30–79 %) | I 2 tilstande |
| COLEC11collectin subfamily member 11 | Ofte (30–79 %) | I 2 tilstande |
| COPB2coat protein complex I subunit beta 2 | Ofte (30–79 %) | I 1 tilstand |
| COPZ1coat protein complex I subunit zeta 1 | Ofte (30–79 %) | I 1 tilstand |
| COX7Bcytochrome c oxidase subunit 7B | Ofte (30–79 %) | I 3 tilstande |
| CRIPTOcripto, EGF-CFC family member | Ofte (30–79 %) | I 6 tilstande |
| CTBP1C-terminal binding protein 1 | Ofte (30–79 %) | I 1 tilstand |
| CTHcystathionine gamma-lyase | Ofte (30–79 %) | I 1 tilstand |
| CUX1cut like homeobox 1 | Ofte (30–79 %) | I 1 tilstand |
| CWC27CWC27 spliceosome associated cyclophilin | Ofte (30–79 %) | I 2 tilstande |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Ofte (30–79 %) | I 1 tilstand |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Ofte (30–79 %) | I 2 tilstande |
| DAGLAdiacylglycerol lipase alpha | Ofte (30–79 %) | I 1 tilstand |
| DALRD3DALR anticodon binding domain containing 3 | Ofte (30–79 %) | I 1 tilstand |
| DCAF17DDB1 and CUL4 associated factor 17 | Ofte (30–79 %) | I 1 tilstand |
| DCCDCC netrin 1 receptor | Ofte (30–79 %) | I 1 tilstand |
| DDCdopa decarboxylase | Ofte (30–79 %) | I 1 tilstand |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Ofte (30–79 %) | I 3 tilstande |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Ofte (30–79 %) | I 2 tilstande |
| DIAPH1diaphanous related formin 1 | Ofte (30–79 %) | I 1 tilstand |
| DISP1dispatched RND transporter family member 1 | Ofte (30–79 %) | I 6 tilstande |
| DLK1delta like non-canonical Notch ligand 1 | Ofte (30–79 %) | I 3 tilstande |
| DLL1delta like canonical Notch ligand 1 | Ofte (30–79 %) | I 7 tilstande |
| DLX5distal-less homeobox 5 | Ofte (30–79 %) | I 1 tilstand |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Ofte (30–79 %) | I 2 tilstande |
| DNMT3BDNA methyltransferase 3 beta | Ofte (30–79 %) | I 2 tilstande |
| DOCK7dedicator of cytokinesis 7 | Ofte (30–79 %) | I 1 tilstand |
| DPYSdihydropyrimidinase | Ofte (30–79 %) | I 2 tilstande |
| DYNC1H1dynein cytoplasmic 1 heavy chain 1 | Ofte (30–79 %) | I 1 tilstand |
| EBPEBP cholestenol delta-isomerase | Ofte (30–79 %) | I 2 tilstande |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Ofte (30–79 %) | I 1 tilstand |
| EFNB1ephrin B1 | Ofte (30–79 %) | I 1 tilstand |
| EMILIN1elastin microfibril interfacer 1 | Ofte (30–79 %) | I 1 tilstand |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Ofte (30–79 %) | I 4 tilstande |
| ETHE1ETHE1 persulfide dioxygenase | Ofte (30–79 %) | I 2 tilstande |
| EXT1exostosin glycosyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| EXTL3exostosin like glycosyltransferase 3 | Ofte (30–79 %) | I 2 tilstande |
| FA2Hfatty acid 2-hydroxylase | Ofte (30–79 %) | I 2 tilstande |
| FAAP100FA core complex associated protein 100 | Ofte (30–79 %) | I 1 tilstand |
| FANCAFA complementation group A | Ofte (30–79 %) | I 2 tilstande |
| FANCCFA complementation group C | Ofte (30–79 %) | I 2 tilstande |
| FANCD2FA complementation group D2 | Ofte (30–79 %) | I 2 tilstande |
| FANCEFA complementation group E | Ofte (30–79 %) | I 2 tilstande |
| FANCFFA complementation group F | Ofte (30–79 %) | I 1 tilstand |
| FANCGFA complementation group G | Ofte (30–79 %) | I 1 tilstand |
| FANCIFA complementation group I | Ofte (30–79 %) | I 1 tilstand |
| FANCLFA complementation group L | Ofte (30–79 %) | I 1 tilstand |
| FANCMFA complementation group M | Ofte (30–79 %) | I 1 tilstand |
| FAR1fatty acyl-CoA reductase 1 | Ofte (30–79 %) | I 1 tilstand |
| FBXO22F-box protein 22 | Ofte (30–79 %) | I 1 tilstand |
| FGF12fibroblast growth factor 12 | Ofte (30–79 %) | I 1 tilstand |
| FGF8fibroblast growth factor 8 | Ofte (30–79 %) | I 6 tilstande |
| FGFR2fibroblast growth factor receptor 2 | Ofte (30–79 %) | I 8 tilstande |
| FIBPFGF1 intracellular binding protein | Ofte (30–79 %) | I 1 tilstand |
| FIG4FIG4 phosphoinositide 5-phosphatase | Ofte (30–79 %) | I 1 tilstand |
| FLVCR1FLVCR choline and heme transporter 1 | Ofte (30–79 %) | I 2 tilstande |
| FOXG1forkhead box G1 | Ofte (30–79 %) | I 1 tilstand |
| FOXH1forkhead box H1 | Ofte (30–79 %) | I 6 tilstande |
| FZR1fizzy and cell division cycle 20 related 1 | Ofte (30–79 %) | I 1 tilstand |
| GABBR1gamma-aminobutyric acid type B receptor subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Ofte (30–79 %) | I 1 tilstand |
| GABRA3gamma-aminobutyric acid type A receptor subunit alpha3 | Ofte (30–79 %) | I 1 tilstand |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Ofte (30–79 %) | I 1 tilstand |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Ofte (30–79 %) | I 2 tilstande |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Ofte (30–79 %) | I 2 tilstande |
| GALEUDP-galactose-4-epimerase | Ofte (30–79 %) | I 2 tilstande |
| GANgigaxonin | Ofte (30–79 %) | I 2 tilstande |
| GAS1growth arrest specific 1 | Ofte (30–79 %) | I 6 tilstande |
| GATA6GATA binding protein 6 | Ofte (30–79 %) | I 1 tilstand |
| GCKglucokinase | Ofte (30–79 %) | I 2 tilstande |
| GKglycerol kinase | Ofte (30–79 %) | I 1 tilstand |
| GLI2GLI family zinc finger 2 | Ofte (30–79 %) | I 6 tilstande |
| GLYCTKglycerate kinase | Ofte (30–79 %) | I 2 tilstande |
| GNAQG protein subunit alpha q | Ofte (30–79 %) | I 3 tilstande |
| GNASGNAS complex locus | Ofte (30–79 %) | I 6 tilstande |
| GNB2G protein subunit beta 2 | Ofte (30–79 %) | I 1 tilstand |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Ofte (30–79 %) | I 3 tilstande |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Ofte (30–79 %) | I 1 tilstand |
| GSSglutathione synthetase | Ofte (30–79 %) | I 2 tilstande |
| H4C9H4 clustered histone 9 | Ofte (30–79 %) | I 1 tilstand |
| HAAO3-hydroxyanthranilate 3,4-dioxygenase | Ofte (30–79 %) | I 1 tilstand |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Ofte (30–79 %) | I 2 tilstande |
| HELLShelicase, lymphoid specific | Ofte (30–79 %) | I 2 tilstande |
| HEPACAMhepatic and glial cell adhesion molecule | Ofte (30–79 %) | I 4 tilstande |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Ofte (30–79 %) | I 1 tilstand |
| HNF4Ahepatocyte nuclear factor 4 alpha | Ofte (30–79 %) | I 1 tilstand |
| HPD4-hydroxyphenylpyruvate dioxygenase | Ofte (30–79 %) | I 1 tilstand |
| IBA57iron-sulfur cluster assembly factor IBA57 | Ofte (30–79 %) | I 1 tilstand |
| IFNGinterferon gamma | Ofte (30–79 %) | I 2 tilstande |
| IFT140intraflagellar transport 140 | Ofte (30–79 %) | I 2 tilstande |
| IGF1Rinsulin like growth factor 1 receptor | Ofte (30–79 %) | I 2 tilstande |
| INSinsulin | Ofte (30–79 %) | I 1 tilstand |
| INSRinsulin receptor | Ofte (30–79 %) | I 2 tilstande |
| IPO8importin 8 | Ofte (30–79 %) | I 1 tilstand |
| ITGA7integrin subunit alpha 7 | Ofte (30–79 %) | I 1 tilstand |
| IVDisovaleryl-CoA dehydrogenase | Ofte (30–79 %) | I 1 tilstand |
| JARID2jumonji and AT-rich interaction domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Ofte (30–79 %) | I 2 tilstande |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Ofte (30–79 %) | I 1 tilstand |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Ofte (30–79 %) | I 2 tilstande |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Ofte (30–79 %) | I 2 tilstande |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Ofte (30–79 %) | I 2 tilstande |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Ofte (30–79 %) | I 2 tilstande |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Ofte (30–79 %) | I 1 tilstand |
| KDM2Blysine demethylase 2B | Ofte (30–79 %) | I 1 tilstand |
| KDM6Blysine demethylase 6B | Ofte (30–79 %) | I 1 tilstand |
| KIF11kinesin family member 11 | Ofte (30–79 %) | I 1 tilstand |
| KIF15kinesin family member 15 | Ofte (30–79 %) | I 1 tilstand |
| KLHL7kelch like family member 7 | Ofte (30–79 %) | I 1 tilstand |
| KNSTRNkinetochore localized astrin (SPAG5) binding protein | Ofte (30–79 %) | I 1 tilstand |
| KYNUkynureninase | Ofte (30–79 %) | I 1 tilstand |
| LAMA2laminin subunit alpha 2 | Ofte (30–79 %) | I 2 tilstande |
| LBRlamin B receptor | Ofte (30–79 %) | I 1 tilstand |
| LIG4DNA ligase 4 | Ofte (30–79 %) | I 1 tilstand |
| LMAN2Llectin, mannose binding 2 like | Ofte (30–79 %) | I 1 tilstand |
| LMBRD1LMBR1 domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| LMNB2lamin B2 | Ofte (30–79 %) | I 1 tilstand |
| LONP1lon peptidase 1, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| LRP5LDL receptor related protein 5 | Ofte (30–79 %) | I 1 tilstand |
| LZTR1leucine zipper like post translational regulator 1 | Ofte (30–79 %) | I 2 tilstande |
| MAD2L2mitotic arrest deficient 2 like 2 | Ofte (30–79 %) | I 1 tilstand |
| MAN2C1mannosidase alpha class 2C member 1 | Ofte (30–79 %) | I 1 tilstand |
| MAP1Bmicrotubule associated protein 1B | Ofte (30–79 %) | I 1 tilstand |
| MASP1MBL associated serine protease 1 | Ofte (30–79 %) | I 1 tilstand |
| MCM3APminichromosome maintenance complex component 3 associated protein | Ofte (30–79 %) | I 1 tilstand |
| MEG3maternally expressed 3 | Ofte (30–79 %) | I 3 tilstande |
| MGME1mitochondrial genome maintenance exonuclease 1 | Ofte (30–79 %) | I 2 tilstande |
| MICOS13mitochondrial contact site and cristae organizing system subunit 13 | Ofte (30–79 %) | I 1 tilstand |
| MID1midline 1 | Ofte (30–79 %) | I 1 tilstand |
| MLXIPLMLX interacting protein like | Ofte (30–79 %) | I 1 tilstand |
| MMUTmethylmalonyl-CoA mutase | Ofte (30–79 %) | I 2 tilstande |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Ofte (30–79 %) | I 1 tilstand |
| MTFMTmitochondrial methionyl-tRNA formyltransferase | Ofte (30–79 %) | I 1 tilstand |
| MTO1mitochondrial tRNA translation optimization 1 | Ofte (30–79 %) | I 1 tilstand |
| MTRR5-methyltetrahydrofolate-homocysteine methyltransferase reductase | Ofte (30–79 %) | I 2 tilstande |
| MYMKmyomaker, myoblast fusion factor | Ofte (30–79 %) | I 1 tilstand |
| MYMXmyomixer, myoblast fusion factor | Ofte (30–79 %) | I 1 tilstand |
| MYSM1Myb like, SWIRM and MPN domains 1 | Ofte (30–79 %) | I 1 tilstand |
| NALCNsodium leak channel, non-selective | Ofte (30–79 %) | I 1 tilstand |
| NDC1NDC1 transmembrane nucleoporin | Ofte (30–79 %) | I 1 tilstand |
| NDPnorrin cystine knot growth factor NDP | Ofte (30–79 %) | I 2 tilstande |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Ofte (30–79 %) | I 1 tilstand |
| NECAP1NECAP endocytosis associated 1 | Ofte (30–79 %) | I 1 tilstand |
| NECTIN1nectin cell adhesion molecule 1 | Ofte (30–79 %) | I 1 tilstand |
| NEMFnuclear export mediator factor | Ofte (30–79 %) | I 1 tilstand |
| NEU1neuraminidase 1 | Ofte (30–79 %) | I 2 tilstande |
| NF1neurofibromin 1 | Ofte (30–79 %) | I 4 tilstande |
| NFIAnuclear factor I A | Ofte (30–79 %) | I 2 tilstande |
| NHP2NHP2 ribonucleoprotein | Ofte (30–79 %) | I 2 tilstande |
| NHSNHS actin remodeling regulator | Ofte (30–79 %) | I 1 tilstand |
| NIPA1NIPA magnesium transporter 1 | Ofte (30–79 %) | I 1 tilstand |
| NIPA2NIPA magnesium transporter 2 | Ofte (30–79 %) | I 1 tilstand |
| NODALnodal growth differentiation factor | Ofte (30–79 %) | I 6 tilstande |
| NOTCH3notch receptor 3 | Ofte (30–79 %) | I 2 tilstande |
| NRCAMneuronal cell adhesion molecule | Ofte (30–79 %) | I 1 tilstand |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Ofte (30–79 %) | I 2 tilstande |
| NUP54nucleoporin 54 | Ofte (30–79 %) | I 1 tilstand |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Ofte (30–79 %) | I 1 tilstand |
| PAHphenylalanine hydroxylase | Ofte (30–79 %) | I 2 tilstande |
| PAK2p21 (RAC1) activated kinase 2 | Ofte (30–79 %) | I 1 tilstand |
| PALB2partner and localizer of BRCA2 | Ofte (30–79 %) | I 1 tilstand |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| PCCApropionyl-CoA carboxylase subunit alpha | Ofte (30–79 %) | I 1 tilstand |
| PCCBpropionyl-CoA carboxylase subunit beta | Ofte (30–79 %) | I 1 tilstand |
| PCDH19protocadherin 19 | Ofte (30–79 %) | I 2 tilstande |
| PDGFRBplatelet derived growth factor receptor beta | Ofte (30–79 %) | I 1 tilstand |
| PDX1pancreatic and duodenal homeobox 1 | Ofte (30–79 %) | I 1 tilstand |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Ofte (30–79 %) | I 1 tilstand |
| PGAP2post-GPI attachment to proteins 2 | Ofte (30–79 %) | I 1 tilstand |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Ofte (30–79 %) | I 2 tilstande |
| PGK1phosphoglycerate kinase 1 | Ofte (30–79 %) | I 2 tilstande |
| PGM3phosphoglucomutase 3 | Ofte (30–79 %) | I 1 tilstand |
| PHOX2Bpaired like homeobox 2B | Ofte (30–79 %) | I 1 tilstand |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Ofte (30–79 %) | I 2 tilstande |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Ofte (30–79 %) | I 1 tilstand |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Ofte (30–79 %) | I 6 tilstande |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Ofte (30–79 %) | I 1 tilstand |
| PITRM1pitrilysin metallopeptidase 1 | Ofte (30–79 %) | I 1 tilstand |
| PLAAphospholipase A2 activating protein | Ofte (30–79 %) | I 1 tilstand |
| PLAAT3phospholipase A and acyltransferase 3 | Ofte (30–79 %) | I 1 tilstand |
| PLCH1phospholipase C eta 1 | Ofte (30–79 %) | I 1 tilstand |
| PODXLpodocalyxin like | Ofte (30–79 %) | I 1 tilstand |
| POLR1CRNA polymerase I and III subunit C | Ofte (30–79 %) | I 1 tilstand |
| POLRMTRNA polymerase mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| PORCNporcupine O-acyltransferase | Ofte (30–79 %) | I 2 tilstande |
| PRORPprotein only RNase P catalytic subunit | Ofte (30–79 %) | I 1 tilstand |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Ofte (30–79 %) | I 4 tilstande |
| PRRT2proline rich transmembrane protein 2 | Ofte (30–79 %) | I 2 tilstande |
| PSMB8proteasome 20S subunit beta 8 | Ofte (30–79 %) | I 1 tilstand |
| PTBP1polypyrimidine tract binding protein 1 | Ofte (30–79 %) | I 1 tilstand |
| PUS1pseudouridine synthase 1 | Ofte (30–79 %) | I 2 tilstande |
| RAD51CRAD51 paralog C | Ofte (30–79 %) | I 1 tilstand |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Ofte (30–79 %) | I 2 tilstande |
| RANBP2RAN binding protein 2 | Ofte (30–79 %) | I 1 tilstand |
| RBM10RNA binding motif protein 10 | Ofte (30–79 %) | I 1 tilstand |
| RECQL4RecQ like helicase 4 | Ofte (30–79 %) | I 4 tilstande |
| RETret proto-oncogene | Ofte (30–79 %) | I 1 tilstand |
| RFWD3ring finger and WD repeat domain 3 | Ofte (30–79 %) | I 1 tilstand |
| RIPK4receptor interacting serine/threonine kinase 4 | Ofte (30–79 %) | I 1 tilstand |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Ofte (30–79 %) | I 1 tilstand |
| RNF213ring finger protein 213 | Ofte (30–79 %) | I 1 tilstand |
| RNF220ring finger protein 220 | Ofte (30–79 %) | I 1 tilstand |
| RNU12RNA, U12 small nuclear | Ofte (30–79 %) | I 1 tilstand |
| RTL1retrotransposon Gag like 1 | Ofte (30–79 %) | I 3 tilstande |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Ofte (30–79 %) | I 2 tilstande |
| SEMA3Esemaphorin 3E | Ofte (30–79 %) | I 1 tilstand |
| SEPHS1selenophosphate synthetase 1 | Ofte (30–79 %) | I 1 tilstand |
| SETBP1SET binding protein 1 | Ofte (30–79 %) | I 2 tilstande |
| SH2B1SH2B adaptor protein 1 | Ofte (30–79 %) | I 2 tilstande |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Ofte (30–79 %) | I 1 tilstand |
| SHHsonic hedgehog signaling molecule | Ofte (30–79 %) | I 7 tilstande |
| SIM1SIM bHLH transcription factor 1 | Ofte (30–79 %) | I 1 tilstand |
| SIN3ASIN3 transcription regulator family member A | Ofte (30–79 %) | I 2 tilstande |
| SIX3SIX homeobox 3 | Ofte (30–79 %) | I 7 tilstande |
| SLC13A5solute carrier family 13 member 5 | Ofte (30–79 %) | I 1 tilstand |
| SLC16A1solute carrier family 16 member 1 | Ofte (30–79 %) | I 1 tilstand |
| SLC1A2solute carrier family 1 member 2 | Ofte (30–79 %) | I 1 tilstand |
| SLC1A3solute carrier family 1 member 3 | Ofte (30–79 %) | I 1 tilstand |
| SLC25A15solute carrier family 25 member 15 | Ofte (30–79 %) | I 2 tilstande |
| SLC35A3solute carrier family 35 member A3 | Ofte (30–79 %) | I 1 tilstand |
| SLC39A14solute carrier family 39 member 14 | Ofte (30–79 %) | I 2 tilstande |
| SLC5A7solute carrier family 5 member 7 | Ofte (30–79 %) | I 1 tilstand |
| SLC7A7solute carrier family 7 member 7 | Ofte (30–79 %) | I 2 tilstande |
| SLX4SLX4 structure-specific endonuclease subunit | Ofte (30–79 %) | I 1 tilstand |
| SMOsmoothened, frizzled class receptor | Ofte (30–79 %) | I 1 tilstand |
| SNRPBsmall nuclear ribonucleoprotein polypeptides B and B1 | Ofte (30–79 %) | I 2 tilstande |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Ofte (30–79 %) | I 2 tilstande |
| SPRsepiapterin reductase | Ofte (30–79 %) | I 2 tilstande |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Ofte (30–79 %) | I 2 tilstande |
| SRCAPSnf2 related CREBBP activator protein | Ofte (30–79 %) | I 2 tilstande |
| SRPX2sushi repeat containing protein X-linked 2 | Ofte (30–79 %) | I 2 tilstande |
| STAG2STAG2 cohesin complex component | Ofte (30–79 %) | I 3 tilstande |
| STAT3signal transducer and activator of transcription 3 | Ofte (30–79 %) | I 1 tilstand |
| STSsteroid sulfatase | Ofte (30–79 %) | I 3 tilstande |
| STXBP1syntaxin binding protein 1 | Ofte (30–79 %) | I 1 tilstand |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Ofte (30–79 %) | I 1 tilstand |
| SYNJ1synaptojanin 1 | Ofte (30–79 %) | I 2 tilstande |
| SYT1synaptotagmin 1 | Ofte (30–79 %) | I 1 tilstand |
| SZT2SZT2 subunit of KICSTOR complex | Ofte (30–79 %) | I 1 tilstand |
| TAOK1TAO kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| TBCBtubulin folding cofactor B | Ofte (30–79 %) | I 1 tilstand |
| TCP1t-complex 1 | Ofte (30–79 %) | I 1 tilstand |
| TGIF1TGFB induced factor homeobox 1 | Ofte (30–79 %) | I 6 tilstande |
| TKTtransketolase | Ofte (30–79 %) | I 1 tilstand |
| TMEM240transmembrane protein 240 | Ofte (30–79 %) | I 2 tilstande |
| TONSLtonsoku like, DNA repair protein | Ofte (30–79 %) | I 1 tilstand |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Ofte (30–79 %) | I 1 tilstand |
| TRAF7TNF receptor associated factor 7 | Ofte (30–79 %) | I 1 tilstand |
| TRAK1trafficking kinesin protein 1 | Ofte (30–79 %) | I 1 tilstand |
| TRAPPC11trafficking protein particle complex subunit 11 | Ofte (30–79 %) | I 3 tilstande |
| TRIP13thyroid hormone receptor interactor 13 | Ofte (30–79 %) | I 1 tilstand |
| TRPS1transcriptional repressor GATA binding 1 | Ofte (30–79 %) | I 1 tilstand |
| TSC1TSC complex subunit 1 | Ofte (30–79 %) | I 3 tilstande |
| TSC2TSC complex subunit 2 | Ofte (30–79 %) | I 3 tilstande |
| TUBG1tubulin gamma 1 | Ofte (30–79 %) | I 1 tilstand |
| TUBGCP4tubulin gamma complex component 4 | Ofte (30–79 %) | I 1 tilstand |
| TUBGCP6tubulin gamma complex component 6 | Ofte (30–79 %) | I 2 tilstande |
| UBA5ubiquitin like modifier activating enzyme 5 | Ofte (30–79 %) | I 1 tilstand |
| UBE2Tubiquitin conjugating enzyme E2 T | Ofte (30–79 %) | I 1 tilstand |
| UBR1ubiquitin protein ligase E3 component n-recognin 1 | Ofte (30–79 %) | I 2 tilstande |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Ofte (30–79 %) | I 1 tilstand |
| UHRF1ubiquitin like with PHD and ring finger domains 1 | Ofte (30–79 %) | I 1 tilstand |
| UPB1beta-ureidopropionase 1 | Ofte (30–79 %) | I 2 tilstande |
| VIPAS39VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog | Ofte (30–79 %) | I 1 tilstand |
| VPS33BVPS33B late endosome and lysosome associated | Ofte (30–79 %) | I 1 tilstand |
| WDR45WD repeat domain 45 | Ofte (30–79 %) | I 2 tilstande |
| WT1WT1 transcription factor | Ofte (30–79 %) | I 2 tilstande |
| XPNPEP3X-prolyl aminopeptidase 3 | Ofte (30–79 %) | I 1 tilstand |
| XRCC2X-ray repair cross complementing 2 | Ofte (30–79 %) | I 1 tilstand |
| YARS2tyrosyl-tRNA synthetase 2 | Ofte (30–79 %) | I 1 tilstand |
| ZFYVE26zinc finger FYVE-type containing 26 | Ofte (30–79 %) | I 2 tilstande |
| ZIC2Zic family zinc finger 2 | Ofte (30–79 %) | I 7 tilstande |
| ZNF699zinc finger protein 699 | Ofte (30–79 %) | I 1 tilstand |
| AAASaladin WD repeat nucleoporin | Nogle gange (5–29 %) | I 2 tilstande |
| ACP5acid phosphatase 5, tartrate resistant | Nogle gange (5–29 %) | I 1 tilstand |
| ADRA2Badrenoceptor alpha 2B | Nogle gange (5–29 %) | I 1 tilstand |
| AGGF1angiogenic factor with G-patch and FHA domains 1 | Nogle gange (5–29 %) | I 1 tilstand |
| AIPL1AIP like 1 HSP90 co-chaperone | Nogle gange (5–29 %) | I 1 tilstand |
| AKT1AKT serine/threonine kinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ALDH7A1aldehyde dehydrogenase 7 family member A1 | Nogle gange (5–29 %) | I 2 tilstande |
| ALDOAaldolase, fructose-bisphosphate A | Nogle gange (5–29 %) | I 2 tilstande |
| ALMS1ALMS1 centrosome and basal body associated protein | Nogle gange (5–29 %) | I 1 tilstand |
| ALX4ALX homeobox 4 | Nogle gange (5–29 %) | I 3 tilstande |
| AMER1APC membrane recruitment protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ANAPC1anaphase promoting complex subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ANO10anoctamin 10 | Nogle gange (5–29 %) | I 1 tilstand |
| ARHGAP31Rho GTPase activating protein 31 | Nogle gange (5–29 %) | I 2 tilstande |
| ARNT2aryl hydrocarbon receptor nuclear translocator 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ARVCFARVCF delta catenin family member | Nogle gange (5–29 %) | I 1 tilstand |
| ATAD1ATPase family AAA domain containing 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ATP2A2ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 | Nogle gange (5–29 %) | I 1 tilstand |
| BBS10Bardet-Biedl syndrome 10 | Nogle gange (5–29 %) | I 1 tilstand |
| BBS12Bardet-Biedl syndrome 12 | Nogle gange (5–29 %) | I 1 tilstand |
| BBS5Bardet-Biedl syndrome 5 | Nogle gange (5–29 %) | I 1 tilstand |
| BCS1LBCS1 ubiquinol-cytochrome c reductase complex chaperone | Nogle gange (5–29 %) | I 3 tilstande |
| BICD2BICD cargo adaptor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| BTDbiotinidase | Nogle gange (5–29 %) | I 1 tilstand |
| CABP4calcium binding protein 4 | Nogle gange (5–29 %) | I 1 tilstand |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Nogle gange (5–29 %) | I 2 tilstande |
| CACNA1Hcalcium voltage-gated channel subunit alpha1 H | Nogle gange (5–29 %) | I 1 tilstand |
| CBLCbl proto-oncogene | Nogle gange (5–29 %) | I 1 tilstand |
| CCDC78coiled-coil domain containing 78 | Nogle gange (5–29 %) | I 1 tilstand |
| CDC45cell division cycle 45 | Nogle gange (5–29 %) | I 1 tilstand |
| CDC6cell division cycle 6 | Nogle gange (5–29 %) | I 1 tilstand |
| CDT1chromatin licensing and DNA replication factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CEP19centrosomal protein 19 | Nogle gange (5–29 %) | I 2 tilstande |
| CFAP418cilia and flagella associated protein 418 | Nogle gange (5–29 %) | I 1 tilstand |
| CHD6chromodomain helicase DNA binding protein 6 | Nogle gange (5–29 %) | I 1 tilstand |
| CHRNA4cholinergic receptor nicotinic alpha 4 subunit | Nogle gange (5–29 %) | I 1 tilstand |
| CHST14carbohydrate sulfotransferase 14 | Nogle gange (5–29 %) | I 1 tilstand |
| CISD2CDGSH iron sulfur domain 2 | Nogle gange (5–29 %) | I 1 tilstand |
| CLTRNcollectrin, amino acid transport regulator | Nogle gange (5–29 %) | I 1 tilstand |
| CNTN2contactin 2 | Nogle gange (5–29 %) | I 1 tilstand |
| COL13A1collagen type XIII alpha 1 chain | Nogle gange (5–29 %) | I 1 tilstand |
| COL25A1collagen type XXV alpha 1 chain | Nogle gange (5–29 %) | I 1 tilstand |
| COL2A1collagen type II alpha 1 chain | Nogle gange (5–29 %) | I 2 tilstande |
| COLQcollagen like tail subunit of asymmetric acetylcholinesterase | Nogle gange (5–29 %) | I 1 tilstand |
| COMTcatechol-O-methyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| COQ8Acoenzyme Q8A | Nogle gange (5–29 %) | I 1 tilstand |
| CPA6carboxypeptidase A6 | Nogle gange (5–29 %) | I 1 tilstand |
| CRB1crumbs cell polarity complex component 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CRLF1cytokine receptor like factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CRXcone-rod homeobox | Nogle gange (5–29 %) | I 1 tilstand |
| CSF1Rcolony stimulating factor 1 receptor | Nogle gange (5–29 %) | I 1 tilstand |
| CSTBcystatin B | Nogle gange (5–29 %) | I 1 tilstand |
| CTNND2catenin delta 2 | Nogle gange (5–29 %) | I 1 tilstand |
| CYP2U1cytochrome P450 family 2 subfamily U member 1 | Nogle gange (5–29 %) | I 2 tilstande |
| DACT1dishevelled binding antagonist of beta catenin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DHTKD1dehydrogenase E1 and transketolase domain containing 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DIP2BDIP2 acetate--CoA ligase B (putative) | Nogle gange (5–29 %) | I 1 tilstand |
| DLL3delta like canonical Notch ligand 3 | Nogle gange (5–29 %) | I 1 tilstand |
| DLL4delta like canonical Notch ligand 4 | Nogle gange (5–29 %) | I 1 tilstand |
| DNAJB4DnaJ heat shock protein family (Hsp40) member B4 | Nogle gange (5–29 %) | I 1 tilstand |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Nogle gange (5–29 %) | I 1 tilstand |
| DOCK6dedicator of cytokinesis 6 | Nogle gange (5–29 %) | I 1 tilstand |
| DOLKdolichol kinase | Nogle gange (5–29 %) | I 1 tilstand |
| DONSONDNA replication fork stabilization factor DONSON | Nogle gange (5–29 %) | I 1 tilstand |
| DSG4desmoglein 4 | Nogle gange (5–29 %) | I 1 tilstand |
| DSTdystonin | Nogle gange (5–29 %) | I 1 tilstand |
| DUOX2dual oxidase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| DUOXA2dual oxidase maturation factor 2 | Nogle gange (5–29 %) | I 2 tilstande |
| DVL1dishevelled segment polarity protein 1 | Nogle gange (5–29 %) | I 2 tilstande |
| DVL3dishevelled segment polarity protein 3 | Nogle gange (5–29 %) | I 1 tilstand |
| DYNC2LI1dynein cytoplasmic 2 light intermediate chain 1 | Nogle gange (5–29 %) | I 1 tilstand |
| EFL1elongation factor like GTPase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| EIF2AK2eukaryotic translation initiation factor 2 alpha kinase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| EIF2AK3eukaryotic translation initiation factor 2 alpha kinase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| EOGTEGF domain specific O-linked N-acetylglucosamine transferase | Nogle gange (5–29 %) | I 1 tilstand |
| EVCEvC ciliary complex subunit 1 | Nogle gange (5–29 %) | I 2 tilstande |
| EVC2EvC ciliary complex subunit 2 | Nogle gange (5–29 %) | I 2 tilstande |
| EXT2exostosin glycosyltransferase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| FBP1fructose-bisphosphatase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| FLNBfilamin B | Nogle gange (5–29 %) | I 2 tilstande |
| FOXI1forkhead box I1 | Nogle gange (5–29 %) | I 2 tilstande |
| FOXP2forkhead box P2 | Nogle gange (5–29 %) | I 1 tilstand |
| FRAS1Fraser extracellular matrix complex subunit 1 | Nogle gange (5–29 %) | I 2 tilstande |
| FREM2FRAS1 related extracellular matrix 2 | Nogle gange (5–29 %) | I 1 tilstand |
| FZD2frizzled class receptor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GAAalpha glucosidase | Nogle gange (5–29 %) | I 1 tilstand |
| GALK1galactokinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GBA1glucosylceramidase beta 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GBA2glucosylceramidase beta 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GCLCglutamate-cysteine ligase catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| GDF6growth differentiation factor 6 | Nogle gange (5–29 %) | I 1 tilstand |
| GHRgrowth hormone receptor | Nogle gange (5–29 %) | I 1 tilstand |
| GJA1gap junction protein alpha 1 | Nogle gange (5–29 %) | I 3 tilstande |
| GJB3gap junction protein beta 3 | Nogle gange (5–29 %) | I 1 tilstand |
| GJB4gap junction protein beta 4 | Nogle gange (5–29 %) | I 1 tilstand |
| GLI1GLI family zinc finger 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GLI3GLI family zinc finger 3 | Nogle gange (5–29 %) | I 2 tilstande |
| GLRA1glycine receptor alpha 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GLRBglycine receptor beta | Nogle gange (5–29 %) | I 2 tilstande |
| GMNNgeminin DNA replication inhibitor | Nogle gange (5–29 %) | I 2 tilstande |
| GP1BBglycoprotein Ib platelet subunit beta | Nogle gange (5–29 %) | I 1 tilstand |
| GPC3glypican 3 | Nogle gange (5–29 %) | I 1 tilstand |
| GPC6glypican 6 | Nogle gange (5–29 %) | I 1 tilstand |
| GPHNgephyrin | Nogle gange (5–29 %) | I 1 tilstand |
| GPIglucose-6-phosphate isomerase | Nogle gange (5–29 %) | I 2 tilstande |
| GPR161G protein-coupled receptor 161 | Nogle gange (5–29 %) | I 1 tilstand |
| GPRC5BG protein-coupled receptor class C group 5 member B | Nogle gange (5–29 %) | I 1 tilstand |
| GRIP1glutamate receptor interacting protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GUCY2Dguanylate cyclase 2D, retinal | Nogle gange (5–29 %) | I 2 tilstande |
| H19H19 imprinted maternally expressed transcript | Nogle gange (5–29 %) | I 1 tilstand |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Nogle gange (5–29 %) | I 1 tilstand |
| HCCSholocytochrome c synthase | Nogle gange (5–29 %) | I 2 tilstande |
| HDAC6histone deacetylase 6 | Nogle gange (5–29 %) | I 1 tilstand |
| HES7hes family bHLH transcription factor 7 | Nogle gange (5–29 %) | I 1 tilstand |
| HESX1HESX homeobox 1 | Nogle gange (5–29 %) | I 2 tilstande |
| HIRAhistone cell cycle regulator | Nogle gange (5–29 %) | I 1 tilstand |
| HNF1BHNF1 homeobox B | Nogle gange (5–29 %) | I 2 tilstande |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Nogle gange (5–29 %) | I 1 tilstand |
| HNRNPA2B1heterogeneous nuclear ribonucleoprotein A2/B1 | Nogle gange (5–29 %) | I 1 tilstand |
| IFT172intraflagellar transport 172 | Nogle gange (5–29 %) | I 2 tilstande |
| IFT27intraflagellar transport 27 | Nogle gange (5–29 %) | I 2 tilstande |
| IGF2insulin like growth factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Nogle gange (5–29 %) | I 2 tilstande |
| IMPDH1inosine monophosphate dehydrogenase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| IQCB1IQ motif containing B1 | Nogle gange (5–29 %) | I 1 tilstand |
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Nogle gange (5–29 %) | I 1 tilstand |
| IYDiodotyrosine deiodinase | Nogle gange (5–29 %) | I 2 tilstande |
| JMJD1Cjumonji domain containing 1C | Nogle gange (5–29 %) | I 1 tilstand |
| JRKJrk helix-turn-helix protein | Nogle gange (5–29 %) | I 2 tilstande |
| KCNJ13potassium inwardly rectifying channel subfamily J member 13 | Nogle gange (5–29 %) | I 1 tilstand |
| KDSR3-ketodihydrosphingosine reductase | Nogle gange (5–29 %) | I 1 tilstand |
| KIF21Akinesin family member 21A | Nogle gange (5–29 %) | I 1 tilstand |
| KITKIT proto-oncogene, receptor tyrosine kinase | Nogle gange (5–29 %) | I 1 tilstand |
| KRT81keratin 81 | Nogle gange (5–29 %) | I 1 tilstand |
| KRT83keratin 83 | Nogle gange (5–29 %) | I 1 tilstand |
| KRT86keratin 86 | Nogle gange (5–29 %) | I 1 tilstand |
| KYkyphoscoliosis peptidase | Nogle gange (5–29 %) | I 1 tilstand |
| LAMB2laminin subunit beta 2 | Nogle gange (5–29 %) | I 1 tilstand |
| LCA5lebercilin LCA5 | Nogle gange (5–29 %) | I 1 tilstand |
| LFNGLFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| LHX1LIM homeobox 1 | Nogle gange (5–29 %) | I 1 tilstand |
| LHX4LIM homeobox 4 | Nogle gange (5–29 %) | I 1 tilstand |
| LIG3DNA ligase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| LMBR1limb development membrane protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| LMNAlamin A/C | Nogle gange (5–29 %) | I 3 tilstande |
| LRATlecithin retinol acyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| LRRK1leucine rich repeat kinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Nogle gange (5–29 %) | I 1 tilstand |
| MARCHF6membrane associated ring-CH-type finger 6 | Nogle gange (5–29 %) | I 1 tilstand |
| MAT1Amethionine adenosyltransferase 1A | Nogle gange (5–29 %) | I 1 tilstand |
| MCCC2methylcrotonyl-CoA carboxylase subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MESP2mesoderm posterior bHLH transcription factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MLC1modulator of VRAC current 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MMP14matrix metallopeptidase 14 | Nogle gange (5–29 %) | I 1 tilstand |
| MMP2matrix metallopeptidase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MRASmuscle RAS oncogene homolog | Nogle gange (5–29 %) | I 1 tilstand |
| MTHFRmethylenetetrahydrofolate reductase | Nogle gange (5–29 %) | I 1 tilstand |
| MTRFRmitochondrial translation release factor in rescue | Nogle gange (5–29 %) | I 1 tilstand |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Nogle gange (5–29 %) | I 2 tilstande |
| NLRP3NLR family pyrin domain containing 3 | Nogle gange (5–29 %) | I 1 tilstand |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NOTCH1notch receptor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NPRL2NPR2 like, GATOR1 complex subunit | Nogle gange (5–29 %) | I 1 tilstand |
| NPRL3NPR3 like, GATOR1 complex subunit | Nogle gange (5–29 %) | I 1 tilstand |
| NXNnucleoredoxin | Nogle gange (5–29 %) | I 1 tilstand |
| ORC1origin recognition complex subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ORC4origin recognition complex subunit 4 | 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 2 tilstande |
| PAX3paired box 3 | Nogle gange (5–29 %) | I 2 tilstande |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Nogle gange (5–29 %) | I 2 tilstande |
| PEPDpeptidase D | Nogle gange (5–29 %) | I 1 tilstand |
| PEX16peroxisomal biogenesis factor 16 | Nogle gange (5–29 %) | I 1 tilstand |
| PHKA2phosphorylase kinase regulatory subunit alpha 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PHKG2phosphorylase kinase catalytic subunit gamma 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PHOX2Apaired like homeobox 2A | Nogle gange (5–29 %) | I 1 tilstand |
| PLPBPpyridoxal phosphate binding protein | Nogle gange (5–29 %) | I 2 tilstande |
| PMM2phosphomannomutase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PNPpurine nucleoside phosphorylase | Nogle gange (5–29 %) | I 2 tilstande |
| PNPLA2patatin like domain 2, triacylglycerol lipase | Nogle gange (5–29 %) | I 1 tilstand |
| POLGDNA polymerase gamma, catalytic subunit | Nogle gange (5–29 %) | I 2 tilstande |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Nogle gange (5–29 %) | I 1 tilstand |
| PPP1R13Lprotein phosphatase 1 regulatory subunit 13 like | Nogle gange (5–29 %) | I 1 tilstand |
| PRDM12PR/SET domain 12 | Nogle gange (5–29 %) | I 1 tilstand |
| PRICKLE1prickle planar cell polarity protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PRKACAprotein kinase cAMP-activated catalytic subunit alpha | Nogle gange (5–29 %) | I 1 tilstand |
| PRKACBprotein kinase cAMP-activated catalytic subunit beta | Nogle gange (5–29 %) | I 1 tilstand |
| PROKR2prokineticin receptor 2 | Nogle gange (5–29 %) | I 2 tilstande |
| PRPH2peripherin 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PSEN1presenilin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PSEN2presenilin 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PTCH2patched 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Nogle gange (5–29 %) | I 2 tilstande |
| PTS6-pyruvoyltetrahydropterin synthase | Nogle gange (5–29 %) | I 2 tilstande |
| RAPGEF2Rap guanine nucleotide exchange factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| RASA2RAS p21 protein activator 2 | Nogle gange (5–29 %) | I 1 tilstand |
| RBPJrecombination signal binding protein for immunoglobulin kappa J region | 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 |
| RIPPLY2ripply transcriptional repressor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| RIT1Ras like without CAAX 1 | Nogle gange (5–29 %) | I 2 tilstande |
| ROR2ROR family WNT receptor 2 | Nogle gange (5–29 %) | I 2 tilstande |
| RPE65retinoid isomerohydrolase RPE65 | Nogle gange (5–29 %) | I 2 tilstande |
| RPGRIP1RPGR interacting protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RRASRAS related | Nogle gange (5–29 %) | I 1 tilstand |
| RRAS2RAS related 2 | Nogle gange (5–29 %) | I 1 tilstand |
| RREB1ras responsive element binding protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Nogle gange (5–29 %) | I 2 tilstande |
| SALL1spalt like transcription factor 1 | Nogle gange (5–29 %) | I 2 tilstande |
| SAMD12sterile alpha motif domain containing 12 | Nogle gange (5–29 %) | I 2 tilstande |
| SBDSSBDS ribosome maturation factor | Nogle gange (5–29 %) | I 1 tilstand |
| SCARB2scavenger receptor class B member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SCLT1sodium channel and clathrin linker 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Nogle gange (5–29 %) | I 1 tilstand |
| SCUBE3signal peptide, CUB domain and EGF like domain containing 3 | Nogle gange (5–29 %) | I 1 tilstand |
| SEC24CSEC24 homolog C, COPII component | Nogle gange (5–29 %) | I 1 tilstand |
| SECISBP2SECIS binding protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SF3B4splicing factor 3b subunit 4 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC1A1solute carrier family 1 member 1 | Nogle gange (5–29 %) | I 2 tilstande |
| SLC26A4solute carrier family 26 member 4 | Nogle gange (5–29 %) | I 2 tilstande |
| SLC2A10solute carrier family 2 member 10 | Nogle gange (5–29 %) | I 2 tilstande |
| SLC5A5solute carrier family 5 member 5 | Nogle gange (5–29 %) | I 2 tilstande |
| SLC6A5solute carrier family 6 member 5 | Nogle gange (5–29 %) | I 1 tilstand |
| SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SMPD1sphingomyelin phosphodiesterase 1 | Nogle gange (5–29 %) | I 3 tilstande |
| SNAI2snail family transcriptional repressor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SORL1sortilin related receptor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Nogle gange (5–29 %) | I 2 tilstande |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SOX2SRY-box transcription factor 2 | Nogle gange (5–29 %) | I 2 tilstande |
| SPATA7spermatogenesis associated 7 | Nogle gange (5–29 %) | I 1 tilstand |
| SPINK5serine peptidase inhibitor Kazal type 5 | Nogle gange (5–29 %) | I 1 tilstand |
| SPRED2sprouty related EVH1 domain containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| STAC3SH3 and cysteine rich domain 3 | Nogle gange (5–29 %) | I 1 tilstand |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Nogle gange (5–29 %) | I 3 tilstande |
| TBX6T-box transcription factor 6 | Nogle gange (5–29 %) | I 1 tilstand |
| TCF12transcription factor 12 | Nogle gange (5–29 %) | I 2 tilstande |
| TGthyroglobulin | Nogle gange (5–29 %) | I 2 tilstande |
| TGFBR2transforming growth factor beta receptor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM106Btransmembrane protein 106B | Nogle gange (5–29 %) | I 1 tilstand |
| TNRC6Atrinucleotide repeat containing adaptor 6A | Nogle gange (5–29 %) | I 1 tilstand |
| TOMM40translocase of outer mitochondrial membrane 40 | Nogle gange (5–29 %) | I 1 tilstand |
| TP53RKTP53 regulating kinase | Nogle gange (5–29 %) | I 1 tilstand |
| TP63tumor protein p63 | Nogle gange (5–29 %) | I 2 tilstande |
| TPOthyroid peroxidase | Nogle gange (5–29 %) | I 1 tilstand |
| TREM2triggering receptor expressed on myeloid cells 2 | Nogle gange (5–29 %) | I 1 tilstand |
| TRIM32tripartite motif containing 32 | Nogle gange (5–29 %) | I 1 tilstand |
| TTC8tetratricopeptide repeat domain 8 | Nogle gange (5–29 %) | I 2 tilstande |
| TUBA1Atubulin alpha 1a | 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 |
| TWIST1twist family bHLH transcription factor 1 | Nogle gange (5–29 %) | I 2 tilstande |
| TWIST2twist family bHLH transcription factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| TYMPthymidine phosphorylase | Nogle gange (5–29 %) | I 2 tilstande |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Nogle gange (5–29 %) | I 1 tilstand |
| UGT1A1UDP glucuronosyltransferase family 1 member A1 | Nogle gange (5–29 %) | I 1 tilstand |
| USP45ubiquitin specific peptidase 45 | Nogle gange (5–29 %) | I 1 tilstand |
| USP8ubiquitin specific peptidase 8 | Nogle gange (5–29 %) | I 1 tilstand |
| VCPvalosin containing protein | Nogle gange (5–29 %) | I 1 tilstand |
| WDPCPWD repeat containing planar cell polarity effector | Nogle gange (5–29 %) | I 1 tilstand |
| WDR11WD repeat domain 11 | Nogle gange (5–29 %) | I 1 tilstand |
| WFS1wolframin ER transmembrane glycoprotein | Nogle gange (5–29 %) | I 2 tilstande |
| WNT5AWnt family member 5A | Nogle gange (5–29 %) | I 2 tilstande |
| XYLT2xylosyltransferase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| YEATS2YEATS domain containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ZIC4Zic family zinc finger 4 | Nogle gange (5–29 %) | I 1 tilstand |
| ZMYM2zinc finger MYM-type containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ACVR1activin A receptor type 1 | Sjældent (1–4%) | I 1 tilstand |
| ANTXR1ANTXR cell adhesion molecule 1 | Sjældent (1–4%) | I 1 tilstand |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Sjældent (1–4%) | I 1 tilstand |
| FLGfilaggrin | Sjældent (1–4%) | I 1 tilstand |
| MC2Rmelanocortin 2 receptor | Sjældent (1–4%) | I 1 tilstand |
| MRAPmelanocortin 2 receptor accessory protein | Sjældent (1–4%) | I 1 tilstand |
| MSX2msh homeobox 2 | Sjældent (1–4%) | I 1 tilstand |
| MYRFmyelin regulatory factor | Sjældent (1–4%) | I 1 tilstand |
| NKX6-2NK6 homeobox 2 | Sjældent (1–4%) | I 1 tilstand |
| NNTnicotinamide nucleotide transhydrogenase | Sjældent (1–4%) | I 1 tilstand |
| PRKRAprotein activator of interferon induced protein kinase EIF2AK2 | Sjældent (1–4%) | I 1 tilstand |
| RBM8ARNA binding motif protein 8A | Sjældent (1–4%) | I 1 tilstand |
| RPS19ribosomal protein S19 | Sjældent (1–4%) | I 1 tilstand |
| SPASTspastin | Sjældent (1–4%) | I 2 tilstande |
| STARsteroidogenic acute regulatory protein | Sjældent (1–4%) | I 1 tilstand |
| STARD7StAR related lipid transfer domain containing 7 | Sjældent (1–4%) | I 1 tilstand |
| TCOF1treacle ribosome biogenesis factor 1 | Sjældent (1–4%) | I 1 tilstand |
| TLR3toll like receptor 3 | Sjældent (1–4%) | I 1 tilstand |
| TXNRD2thioredoxin reductase 2 | Sjældent (1–4%) | I 1 tilstand |
| ABCA2ATP binding cassette subfamily A member 2 | Ikke registreret | I 1 tilstand |
| ABHD5abhydrolase domain containing 5, lysophosphatidic acid acyltransferase | Ikke registreret | I 1 tilstand |
| ACAT1acetyl-CoA acetyltransferase 1 | Ikke registreret | I 1 tilstand |
| ACOX1acyl-CoA oxidase 1 | Ikke registreret | I 1 tilstand |
| ADCY5adenylate cyclase 5 | Ikke registreret | I 1 tilstand |
| AFG2BAAA ATPase AFG2B | Ikke registreret | I 1 tilstand |
| AHCYadenosylhomocysteinase | Ikke registreret | I 1 tilstand |
| AKT3AKT serine/threonine kinase 3 | Ikke registreret | I 1 tilstand |
| ALDOBaldolase, fructose-bisphosphate B | Ikke registreret | I 1 tilstand |
| ALX3ALX homeobox 3 | Ikke registreret | I 1 tilstand |
| AMMECR1AMMECR nuclear protein 1 | Ikke registreret | I 1 tilstand |
| AP4M1adaptor related protein complex 4 subunit mu 1 | Ikke registreret | I 1 tilstand |
| APTXaprataxin | Ikke registreret | I 1 tilstand |
| AQP2aquaporin 2 | Ikke registreret | I 1 tilstand |
| ARCN1archain 1 coat protein complex I subunit delta | Ikke registreret | I 1 tilstand |
| ARFGEF2ARF guanine nucleotide exchange factor 2 | Ikke registreret | I 1 tilstand |
| ARG1arginase 1 | Ikke registreret | I 1 tilstand |
| ARHGDIARho GDP dissociation inhibitor alpha | Ikke registreret | I 1 tilstand |
| ARID1BAT-rich interaction domain 1B | Ikke registreret | I 1 tilstand |
| ARSAarylsulfatase A | Ikke registreret | I 1 tilstand |
| ASS1argininosuccinate synthase 1 | Ikke registreret | I 1 tilstand |
| ASXL2ASXL transcriptional regulator 2 | Ikke registreret | I 1 tilstand |
| ATP2B3ATPase plasma membrane Ca2+ transporting 3 | Ikke registreret | I 1 tilstand |
| ATP5F1EATP synthase F1 subunit epsilon | Ikke registreret | I 1 tilstand |
| AVPR2arginine vasopressin receptor 2 | Ikke registreret | I 1 tilstand |
| BAP1BRCA1 associated deubiquitinase 1 | Ikke registreret | I 1 tilstand |
| BCKDHAbranched chain keto acid dehydrogenase E1 subunit alpha | Ikke registreret | I 1 tilstand |
| BLTP1bridge-like lipid transfer protein family member 1 | Ikke registreret | I 1 tilstand |
| BPTFbromodomain PHD finger transcription factor | Ikke registreret | I 1 tilstand |
| BRAT1BRCA1 associated ATM activator 1 | Ikke registreret | I 1 tilstand |
| BSNDbarttin CLCNK type accessory subunit beta | Ikke registreret | I 1 tilstand |
| CACNB4calcium voltage-gated channel auxiliary subunit beta 4 | Ikke registreret | I 1 tilstand |
| CAMK2Bcalcium/calmodulin dependent protein kinase II beta | Ikke registreret | I 1 tilstand |
| CCDC88Ccoiled-coil and HOOK domain protein 88C | Ikke registreret | I 1 tilstand |
| CERS1ceramide synthase 1 | Ikke registreret | I 1 tilstand |
| CHMP1Acharged multivesicular body protein 1A | Ikke registreret | I 1 tilstand |
| CICcapicua transcriptional repressor | Ikke registreret | I 1 tilstand |
| CILK1ciliogenesis associated kinase 1 | Ikke registreret | I 1 tilstand |
| CLCN2chloride voltage-gated channel 2 | Ikke registreret | I 1 tilstand |
| CLCNKAchloride voltage-gated channel Ka | Ikke registreret | I 1 tilstand |
| CLCNKBchloride voltage-gated channel Kb | Ikke registreret | I 1 tilstand |
| CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin | Ikke registreret | I 1 tilstand |
| CLN5CLN5 lysosomal BMP synthase | Ikke registreret | I 1 tilstand |
| CNOT3CCR4-NOT transcription complex subunit 3 | Ikke registreret | I 1 tilstand |
| COQ2coenzyme Q2, polyprenyltransferase | 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 |
| CPS1carbamoyl-phosphate synthase 1 | Ikke registreret | I 1 tilstand |
| CTDP1CTD phosphatase 1 | Ikke registreret | I 1 tilstand |
| CTSDcathepsin D | Ikke registreret | I 1 tilstand |
| CYB5R3cytochrome b5 reductase 3 | Ikke registreret | I 1 tilstand |
| D2HGDHD-2-hydroxyglutarate dehydrogenase | Ikke registreret | I 1 tilstand |
| DCHS1dachsous cadherin-related 1 | Ikke registreret | I 1 tilstand |
| DCXdoublecortin | Ikke registreret | I 1 tilstand |
| DDX11DEAD/H-box helicase 11 | Ikke registreret | I 1 tilstand |
| DHX16DEAH-box helicase 16 | Ikke registreret | I 1 tilstand |
| DMPKDM1 protein kinase | Ikke registreret | I 1 tilstand |
| DOHHdeoxyhypusine hydroxylase | Ikke registreret | I 1 tilstand |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Ikke registreret | I 1 tilstand |
| EDEM3ER degradation enhancing alpha-mannosidase like protein 3 | Ikke registreret | I 1 tilstand |
| EFHC1EF-hand domain containing 1 | Ikke registreret | I 1 tilstand |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Ikke registreret | I 1 tilstand |
| EMC1ER membrane protein complex subunit 1 | Ikke registreret | I 1 tilstand |
| EMDemerin | Ikke registreret | I 1 tilstand |
| ENTPD1ectonucleoside triphosphate diphosphohydrolase 1 | Ikke registreret | I 1 tilstand |
| FAM50Afamily with sequence similarity 50 member A | Ikke registreret | I 1 tilstand |
| FASTKD2FASTK mitochondrial RNA regulator 2 | Ikke registreret | I 1 tilstand |
| FHL1four and a half LIM domains 1 | Ikke registreret | I 1 tilstand |
| FOLR1folate receptor alpha | Ikke registreret | I 1 tilstand |
| FRG1FSHD region gene 1 | Ikke registreret | I 1 tilstand |
| FRMD4AFERM domain containing 4A | Ikke registreret | I 1 tilstand |
| FTCDformimidoyltransferase cyclodeaminase | Ikke registreret | I 1 tilstand |
| GALTgalactose-1-phosphate uridylyltransferase | Ikke registreret | I 1 tilstand |
| GAMTguanidinoacetate N-methyltransferase | Ikke registreret | I 1 tilstand |
| GCH1GTP cyclohydrolase 1 | Ikke registreret | I 2 tilstande |
| GJA5gap junction protein alpha 5 | Ikke registreret | I 1 tilstand |
| GJA8gap junction protein alpha 8 | Ikke registreret | I 1 tilstand |
| GLDCglycine decarboxylase | Ikke registreret | I 1 tilstand |
| GLUD1glutamate dehydrogenase 1 | Ikke registreret | I 1 tilstand |
| GNPATglyceronephosphate O-acyltransferase | Ikke registreret | I 1 tilstand |
| GNSglucosamine (N-acetyl)-6-sulfatase | Ikke registreret | I 1 tilstand |
| GPAA1glycosylphosphatidylinositol anchor attachment 1 | Ikke registreret | I 1 tilstand |
| GPR88G protein-coupled receptor 88 | Ikke registreret | I 1 tilstand |
| HADHhydroxyacyl-CoA dehydrogenase | Ikke registreret | I 1 tilstand |
| HCFC1host cell factor C1 | Ikke registreret | I 1 tilstand |
| HNMThistamine N-methyltransferase | Ikke registreret | I 1 tilstand |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Ikke registreret | I 1 tilstand |
| IFIH1interferon induced with helicase C domain 1 | Ikke registreret | I 1 tilstand |
| IMPDH2inosine monophosphate dehydrogenase 2 | Ikke registreret | I 1 tilstand |
| INPP5Kinositol polyphosphate-5-phosphatase K | Ikke registreret | I 1 tilstand |
| KANK1KN motif and ankyrin repeat domains 1 | Ikke registreret | I 1 tilstand |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Ikke registreret | I 1 tilstand |
| KCNC3potassium voltage-gated channel subfamily C member 3 | Ikke registreret | I 1 tilstand |
| KCNJ1potassium inwardly rectifying channel subfamily J member 1 | Ikke registreret | I 1 tilstand |
| KCNK9potassium two pore domain channel subfamily K member 9 | Ikke registreret | I 1 tilstand |
| KCNQ3potassium voltage-gated channel subfamily Q member 3 | Ikke registreret | I 1 tilstand |
| KDM3Blysine demethylase 3B | Ikke registreret | I 1 tilstand |
| KIF14kinesin family member 14 | Ikke registreret | I 1 tilstand |
| LDHDlactate dehydrogenase D | Ikke registreret | I 1 tilstand |
| LHX3LIM homeobox 3 | Ikke registreret | I 1 tilstand |
| MADDMAP kinase activating death domain | Ikke registreret | I 1 tilstand |
| MAOAmonoamine oxidase A | Ikke registreret | I 1 tilstand |
| MCCC1methylcrotonyl-CoA carboxylase subunit 1 | Ikke registreret | I 1 tilstand |
| MICAL1microtubule associated monooxygenase, calponin and LIM domain containing 1 | Ikke registreret | I 1 tilstand |
| MOCS1molybdenum cofactor synthesis 1 | Ikke registreret | I 1 tilstand |
| MPDZmultiple PDZ domain crumbs cell polarity complex component | Ikke registreret | I 1 tilstand |
| MPImannose phosphate isomerase | Ikke registreret | I 1 tilstand |
| MT-TNmitochondrially encoded tRNA-Asn (AAU/C) | Ikke registreret | I 1 tilstand |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Ikke registreret | I 1 tilstand |
| MTR5-methyltetrahydrofolate-homocysteine methyltransferase | Ikke registreret | I 1 tilstand |
| NANSN-acetylneuraminate synthase | Ikke registreret | I 1 tilstand |
| NBNnibrin | Ikke registreret | I 1 tilstand |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Ikke registreret | I 1 tilstand |
| NKX2-5NK2 homeobox 5 | Ikke registreret | I 1 tilstand |
| NLGN3neuroligin 3 | Ikke registreret | I 2 tilstande |
| NLGN4Xneuroligin 4 X-linked | Ikke registreret | I 1 tilstand |
| NOP10NOP10 ribonucleoprotein | Ikke registreret | I 1 tilstand |
| NPC2NPC intracellular cholesterol transporter 2 | Ikke registreret | I 1 tilstand |
| NTNG2netrin G2 | Ikke registreret | I 1 tilstand |
| NUP62nucleoporin 62 | Ikke registreret | I 1 tilstand |
| OPA1OPA1 mitochondrial dynamin like GTPase | Ikke registreret | I 1 tilstand |
| OSGEPO-sialoglycoprotein endopeptidase | Ikke registreret | I 1 tilstand |
| OTCornithine transcarbamylase | Ikke registreret | I 1 tilstand |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Ikke registreret | I 1 tilstand |
| PAX2paired box 2 | Ikke registreret | I 1 tilstand |
| PCpyruvate carboxylase | Ikke registreret | I 1 tilstand |
| PCGF2polycomb group ring finger 2 | Ikke registreret | I 1 tilstand |
| PDE10Aphosphodiesterase 10A | Ikke registreret | I 1 tilstand |
| PDHXpyruvate dehydrogenase complex component X | Ikke registreret | I 1 tilstand |
| PDP1pyruvate dehydrogenase phosphatase catalytic subunit 1 | Ikke registreret | I 1 tilstand |
| PEX2peroxisomal biogenesis factor 2 | Ikke registreret | I 1 tilstand |
| PEX5peroxisomal biogenesis factor 5 | Ikke registreret | I 2 tilstande |
| PEX7peroxisomal biogenesis factor 7 | Ikke registreret | I 2 tilstande |
| PHGDHphosphoglycerate dehydrogenase | Ikke registreret | I 1 tilstand |
| PISDphosphatidylserine decarboxylase | Ikke registreret | I 1 tilstand |
| PITX3paired like homeodomain 3 | Ikke registreret | I 1 tilstand |
| PLA2G6phospholipase A2 group VI | Ikke registreret | I 1 tilstand |
| PMPCBpeptidase, mitochondrial processing subunit beta | Ikke registreret | I 1 tilstand |
| POLR3ARNA polymerase III subunit A | Ikke registreret | I 1 tilstand |
| PORcytochrome p450 oxidoreductase | Ikke registreret | I 1 tilstand |
| POU1F1POU class 1 homeobox 1 | Ikke registreret | I 1 tilstand |
| PPT1palmitoyl-protein thioesterase 1 | Ikke registreret | I 1 tilstand |
| PRDX1peroxiredoxin 1 | Ikke registreret | I 1 tilstand |
| PRODH2proline dehydrogenase 2 | Ikke registreret | I 1 tilstand |
| PTCHD1patched domain containing 1 | Ikke registreret | I 1 tilstand |
| PTRH2peptidyl-tRNA hydrolase 2 | Ikke registreret | I 1 tilstand |
| PURApurine rich element binding protein A | Ikke registreret | I 1 tilstand |
| RBMXRNA binding motif protein X-linked | Ikke registreret | I 1 tilstand |
| ROGDIrogdi atypical leucine zipper | Ikke registreret | I 1 tilstand |
| RORARAR related orphan receptor A | Ikke registreret | I 1 tilstand |
| SACSsacsin molecular chaperone | Ikke registreret | I 1 tilstand |
| SAR1Bsecretion associated Ras related GTPase 1B | Ikke registreret | I 1 tilstand |
| SCO1synthesis of cytochrome C oxidase 1 | Ikke registreret | I 1 tilstand |
| SCO2synthesis of cytochrome C oxidase 2 | Ikke registreret | I 1 tilstand |
| SETSET nuclear proto-oncogene | Ikke registreret | I 1 tilstand |
| SF3B2splicing factor 3b subunit 2 | Ikke registreret | I 1 tilstand |
| SGSHN-sulfoglucosamine sulfohydrolase | Ikke registreret | I 1 tilstand |
| SLC12A1solute carrier family 12 member 1 | Ikke registreret | I 1 tilstand |
| SLC12A5solute carrier family 12 member 5 | Ikke registreret | I 1 tilstand |
| SLC17A5solute carrier family 17 member 5 | Ikke registreret | I 1 tilstand |
| SLC35A1solute carrier family 35 member A1 | Ikke registreret | I 1 tilstand |
| SLC35C1solute carrier family 35 member C1 | Ikke registreret | I 1 tilstand |
| SLC36A2solute carrier family 36 member 2 | Ikke registreret | I 1 tilstand |
| SLC46A1solute carrier family 46 member 1 | Ikke registreret | I 1 tilstand |
| SLC9A6solute carrier family 9 member A6 | Ikke registreret | I 1 tilstand |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Ikke registreret | I 1 tilstand |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Ikke registreret | I 1 tilstand |
| SMOC1SPARC related modular calcium binding 1 | Ikke registreret | I 1 tilstand |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Ikke registreret | I 1 tilstand |
| ST3GAL3ST3 beta-galactoside alpha-2,3-sialyltransferase 3 | Ikke registreret | I 1 tilstand |
| STRADASTE20 related adaptor alpha | Ikke registreret | I 1 tilstand |
| SURF1SURF1 cytochrome c oxidase assembly factor | Ikke registreret | I 1 tilstand |
| SYNE2spectrin repeat containing nuclear envelope protein 2 | Ikke registreret | I 1 tilstand |
| TCN2transcobalamin 2 | Ikke registreret | I 1 tilstand |
| TDP1tyrosyl-DNA phosphodiesterase 1 | Ikke registreret | I 1 tilstand |
| TENM3teneurin transmembrane protein 3 | Ikke registreret | I 1 tilstand |
| TGFBR1transforming growth factor beta receptor 1 | Ikke registreret | I 1 tilstand |
| TK2thymidine kinase 2 | Ikke registreret | I 1 tilstand |
| TMEM107transmembrane protein 107 | Ikke registreret | I 1 tilstand |
| TMEM43transmembrane protein 43 | Ikke registreret | I 1 tilstand |
| TNNT1troponin T1, slow skeletal type | Ikke registreret | I 1 tilstand |
| TRIT1tRNA isopentenyltransferase 1 | Ikke registreret | I 1 tilstand |
| TSHBthyroid stimulating hormone subunit beta | Ikke registreret | I 1 tilstand |
| TUBB4Atubulin beta 4A class IVa | Ikke registreret | I 1 tilstand |
| TWNKtwinkle mtDNA helicase | Ikke registreret | I 1 tilstand |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Ikke registreret | I 1 tilstand |
| UFM1ubiquitin fold modifier 1 | Ikke registreret | I 1 tilstand |
| USP27Xubiquitin specific peptidase 27 X-linked | Ikke registreret | I 1 tilstand |
| VRK1VRK serine/threonine kinase 1 | Ikke registreret | I 1 tilstand |
| VWA3Bvon Willebrand factor A domain containing 3B | Ikke registreret | I 1 tilstand |
| WNK3WNK lysine deficient protein kinase 3 | Ikke registreret | I 1 tilstand |
| YY1AP1YY1 associated protein 1 | Ikke registreret | I 1 tilstand |
| ZNF148zinc finger protein 148 | Ikke registreret | I 1 tilstand |
| ZNF292zinc finger protein 292 | 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.
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