Træk
Low-set ears
Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
Resumé
- Også kaldet
- Low set ears, Lowset ears, Low-set pinnae, Melotia
- Kropssystem
- Abnormality of the ear
ReferencegenomGRCh38hg38
Positioner på gen- og variantsider følger dette valg i denne browser.
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Ændringer i disse gener forårsager sjældne tilstande, hvor Low-set ears 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 |
|---|---|---|
| ACANaggrecan | Altid | I 1 tilstand |
| ACER3alkaline ceramidase 3 | Altid | I 1 tilstand |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Altid | I 3 tilstande |
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Altid | I 1 tilstand |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Altid | I 3 tilstande |
| ALX1ALX homeobox 1 | Altid | I 1 tilstand |
| ANKHANKH inorganic pyrophosphate transport regulator | Altid | I 1 tilstand |
| AP3B1adaptor related protein complex 3 subunit beta 1 | Altid | I 1 tilstand |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Altid | I 1 tilstand |
| ASH1LASH1 like histone lysine methyltransferase | Altid | I 1 tilstand |
| ATIC5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase | Altid | I 2 tilstande |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Altid | I 4 tilstande |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Altid | I 2 tilstande |
| ATRXATRX chromatin remodeler | Altid | I 2 tilstande |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Altid | I 4 tilstande |
| BRF1BRF1 general transcription factor IIIB subunit | Altid | I 2 tilstande |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Altid | I 1 tilstand |
| CCNKcyclin K | Altid | I 1 tilstand |
| CDC6cell division cycle 6 | Altid | I 2 tilstande |
| CDK10cyclin dependent kinase 10 | Altid | I 1 tilstand |
| CDT1chromatin licensing and DNA replication factor 1 | Altid | I 2 tilstande |
| CEP55centrosomal protein 55 | Altid | I 1 tilstand |
| CEP57centrosomal protein 57 | Altid | I 1 tilstand |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Altid | I 1 tilstand |
| CHST14carbohydrate sulfotransferase 14 | Altid | I 1 tilstand |
| CHUKcomponent of inhibitor of nuclear factor kappa B kinase complex | Altid | I 1 tilstand |
| CIROZciliated left-right organizer protein containing ZP-N domains | Altid | I 1 tilstand |
| CNOT2CCR4-NOT transcription complex subunit 2 | Altid | I 1 tilstand |
| COG1component of oligomeric golgi complex 1 | Altid | I 1 tilstand |
| COG7component of oligomeric golgi complex 7 | Altid | I 1 tilstand |
| COL13A1collagen type XIII alpha 1 chain | Altid | I 1 tilstand |
| CPAPcentrosome assembly and centriole elongation protein | Altid | I 1 tilstand |
| CREBBPCREB binding lysine acetyltransferase | Altid | I 4 tilstande |
| CRNKL1crooked neck pre-mRNA splicing factor 1 | Altid | I 1 tilstand |
| DCPSdecapping enzyme, scavenger | Altid | I 1 tilstand |
| DDX59DEAD-box helicase 59 | Altid | I 1 tilstand |
| DHCR77-dehydrocholesterol reductase | Altid | I 1 tilstand |
| DHRS3dehydrogenase/reductase 3 | Altid | I 1 tilstand |
| DHX9DExH-box helicase 9 | Altid | I 1 tilstand |
| DMRT2doublesex and mab-3 related transcription factor 2 | Altid | I 1 tilstand |
Vis 768 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| DNM1dynamin 1 | Altid | I 1 tilstand |
| DONSONDNA replication fork stabilization factor DONSON | Altid | I 2 tilstande |
| DPH1diphthamide biosynthesis 1 | Altid | I 2 tilstande |
| DPH2diphthamide biosynthesis 2 | Altid | I 2 tilstande |
| DRG1developmentally regulated GTP binding protein 1 | Altid | I 1 tilstand |
| DSTdystonin | Altid | I 2 tilstande |
| DVL1dishevelled segment polarity protein 1 | Altid | I 3 tilstande |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Altid | I 1 tilstand |
| EBPEBP cholestenol delta-isomerase | Altid | I 3 tilstande |
| EP300EP300 lysine acetyltransferase | Altid | I 3 tilstande |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Altid | I 1 tilstand |
| ERI1exoribonuclease 1 | Altid | I 2 tilstande |
| EXOSC2exosome component 2 | Altid | I 1 tilstand |
| FEM1Bfem-1 homolog B | Altid | I 1 tilstand |
| FIG4FIG4 phosphoinositide 5-phosphatase | Altid | I 2 tilstande |
| FLNAfilamin A | Altid | I 5 tilstande |
| FLNBfilamin B | Altid | I 2 tilstande |
| FLVCR1FLVCR choline and heme transporter 1 | Altid | I 1 tilstand |
| FUCA1alpha-L-fucosidase 1 | Altid | I 1 tilstand |
| GALNT2polypeptide N-acetylgalactosaminyltransferase 2 | Altid | I 1 tilstand |
| GINS3GINS complex subunit 3 | Altid | I 1 tilstand |
| GLULglutamate-ammonia ligase | Altid | I 1 tilstand |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Altid | I 1 tilstand |
| GRIP1glutamate receptor interacting protein 1 | Altid | I 1 tilstand |
| GTF2H5general transcription factor IIH subunit 5 | Altid | I 1 tilstand |
| GTPBP2GTP binding protein 2 | Altid | I 1 tilstand |
| HMX1H6 family homeobox 1 | Altid | I 1 tilstand |
| HNRNPH1heterogeneous nuclear ribonucleoprotein H1 | Altid | I 1 tilstand |
| HOXB1homeobox B1 | Altid | I 1 tilstand |
| HS6ST2heparan sulfate 6-O-sulfotransferase 2 | Altid | I 1 tilstand |
| IFT122intraflagellar transport 122 | Altid | I 1 tilstand |
| IFT140intraflagellar transport 140 | Altid | I 2 tilstande |
| IFT52intraflagellar transport 52 | Altid | I 1 tilstand |
| IFT56intraflagellar transport 56 | Altid | I 1 tilstand |
| IGBP1immunoglobulin binding protein 1 | Altid | I 2 tilstande |
| IL6STinterleukin 6 cytokine family signal transducer | Altid | I 1 tilstand |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Altid | I 1 tilstand |
| INPP5Einositol polyphosphate-5-phosphatase E | Altid | I 3 tilstande |
| INTS11integrator complex subunit 11 | Altid | I 1 tilstand |
| INTUinturned planar cell polarity protein | Altid | I 2 tilstande |
| IREB2iron responsive element binding protein 2 | Altid | I 1 tilstand |
| IRX5iroquois homeobox 5 | Altid | I 1 tilstand |
| ITCHitchy E3 ubiquitin protein ligase | Altid | I 1 tilstand |
| JAG1jagged canonical Notch ligand 1 | Altid | I 1 tilstand |
| KDM2Blysine demethylase 2B | Altid | I 1 tilstand |
| KIAA0753KIAA0753 | Altid | I 4 tilstande |
| KIF7kinesin family member 7 | Altid | I 3 tilstande |
| LIFRLIF receptor subunit alpha | Altid | I 1 tilstand |
| LZTR1leucine zipper like post translational regulator 1 | Altid | I 2 tilstande |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Altid | I 2 tilstande |
| MARS1methionyl-tRNA synthetase 1 | Altid | I 1 tilstand |
| MARS2methionyl-tRNA synthetase 2, mitochondrial | Altid | I 1 tilstand |
| MCM5minichromosome maintenance complex component 5 | Altid | I 1 tilstand |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Altid | I 1 tilstand |
| MN1MN1 proto-oncogene, transcriptional regulator | Altid | I 1 tilstand |
| MRASmuscle RAS oncogene homolog | Altid | I 1 tilstand |
| MRPL12mitochondrial ribosomal protein L12 | Altid | I 1 tilstand |
| MRPS14mitochondrial ribosomal protein S14 | Altid | I 1 tilstand |
| MRPS16mitochondrial ribosomal protein S16 | Altid | I 1 tilstand |
| MRPS28mitochondrial ribosomal protein S28 | Altid | I 1 tilstand |
| MYH3myosin heavy chain 3 | Altid | I 3 tilstande |
| MYOD1myogenic differentiation 1 | Altid | I 1 tilstand |
| NAA80N-alpha-acetyltransferase 80, NatH catalytic subunit | Altid | I 1 tilstand |
| NALCNsodium leak channel, non-selective | Altid | I 2 tilstande |
| NECTIN1nectin cell adhesion molecule 1 | Altid | I 1 tilstand |
| NF1neurofibromin 1 | Altid | I 4 tilstande |
| NOTCH2notch receptor 2 | Altid | I 2 tilstande |
| NOTCH3notch receptor 3 | Altid | I 2 tilstande |
| NRASNRAS proto-oncogene, GTPase | Altid | I 1 tilstand |
| NSD1nuclear receptor binding SET domain protein 1 | Altid | I 1 tilstand |
| NUP188nucleoporin 188 | Altid | I 1 tilstand |
| NUP88nucleoporin 88 | Altid | I 1 tilstand |
| OFD1OFD1 centriole and centriolar satellite protein | Altid | I 4 tilstande |
| OGTO-linked N-acetylglucosamine (GlcNAc) transferase | Altid | I 1 tilstand |
| ORC1origin recognition complex subunit 1 | Altid | I 2 tilstande |
| PAICSphosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase | Altid | I 1 tilstand |
| PAX1paired box 1 | Altid | I 1 tilstand |
| PEX1peroxisomal biogenesis factor 1 | Altid | I 1 tilstand |
| PEX10peroxisomal biogenesis factor 10 | Altid | I 1 tilstand |
| PEX12peroxisomal biogenesis factor 12 | Altid | I 1 tilstand |
| PEX26peroxisomal biogenesis factor 26 | Altid | I 1 tilstand |
| PEX3peroxisomal biogenesis factor 3 | Altid | I 1 tilstand |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Altid | I 1 tilstand |
| PLOD3procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | Altid | I 1 tilstand |
| PLVAPplasmalemma vesicle associated protein | Altid | I 1 tilstand |
| POC1APOC1 centriolar protein A | Altid | I 1 tilstand |
| POLR3ARNA polymerase III subunit A | Altid | I 2 tilstande |
| PPP2R3Cprotein phosphatase 2 regulatory subunit B''gamma | Altid | I 1 tilstand |
| PRIM1DNA primase subunit 1 | Altid | I 1 tilstand |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Altid | I 2 tilstande |
| PRRX1paired related homeobox 1 | Altid | I 1 tilstand |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Altid | I 1 tilstand |
| PTH1Rparathyroid hormone 1 receptor | Altid | I 2 tilstande |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Altid | I 1 tilstand |
| RAB5IFRAB5 interacting factor | Altid | I 1 tilstand |
| RAP1GDS1Rap1 GTPase-GDP dissociation stimulator 1 | Altid | I 1 tilstand |
| RAPSNreceptor associated protein of the synapse | Altid | I 1 tilstand |
| RNU2-2RNA, U2 small nuclear 2 | Altid | I 1 tilstand |
| RNU5B-1RNA, U5B small nuclear 1 | Altid | I 1 tilstand |
| RSPRY1ring finger and SPRY domain containing 1 | Altid | I 2 tilstande |
| SATB2SATB homeobox 2 | Altid | I 3 tilstande |
| SCO2synthesis of cytochrome C oxidase 2 | Altid | I 1 tilstand |
| SCYL2SCY1 like pseudokinase 2 | Altid | I 1 tilstand |
| SH3PXD2BSH3 and PX domains 2B | Altid | I 1 tilstand |
| SIAH1siah E3 ubiquitin protein ligase 1 | Altid | I 1 tilstand |
| SLC12A2solute carrier family 12 member 2 | Altid | I 1 tilstand |
| SLC37A4solute carrier family 37 member 4 | Altid | I 1 tilstand |
| SOD1superoxide dismutase 1 | Altid | I 1 tilstand |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Altid | I 1 tilstand |
| SOX11SRY-box transcription factor 11 | Altid | I 1 tilstand |
| SPOUT1SPOUT domain containing methyltransferase 1 | Altid | I 1 tilstand |
| SPRED2sprouty related EVH1 domain containing 2 | Altid | I 1 tilstand |
| STAC3SH3 and cysteine rich domain 3 | Altid | I 1 tilstand |
| SUPT7LSPT7 like, STAGA complex subunit gamma | Altid | I 1 tilstand |
| TAF4TATA-box binding protein associated factor 4 | Altid | I 1 tilstand |
| TASP1taspase 1 | Altid | I 1 tilstand |
| TBX15T-box transcription factor 15 | Altid | I 2 tilstande |
| TM2D3TM2 domain containing 3 | Altid | I 1 tilstand |
| TMCO1transmembrane and coiled-coil domains 1 | Altid | I 1 tilstand |
| TMEM107transmembrane protein 107 | Altid | I 1 tilstand |
| TOP2BDNA topoisomerase II beta | Altid | I 1 tilstand |
| TRA2Btransformer 2 beta homolog | Altid | I 1 tilstand |
| TRIP11thyroid hormone receptor interactor 11 | Altid | I 1 tilstand |
| TUBBtubulin beta class I | Altid | I 1 tilstand |
| UBA2ubiquitin like modifier activating enzyme 2 | Altid | I 1 tilstand |
| UBE3Bubiquitin protein ligase E3B | Altid | I 1 tilstand |
| WDR35WD repeat domain 35 | Altid | I 1 tilstand |
| ZSCAN10zinc finger and SCAN domain containing 10 | Altid | I 1 tilstand |
| ADAMTS15ADAM metallopeptidase with thrombospondin type 1 motif 15 | Meget ofte (80–99 %) | I 1 tilstand |
| ADAMTS3ADAM metallopeptidase with thrombospondin type 1 motif 3 | Meget ofte (80–99 %) | I 1 tilstand |
| ADSLadenylosuccinate lyase | Meget ofte (80–99 %) | I 2 tilstande |
| ANTXR1ANTXR cell adhesion molecule 1 | Meget ofte (80–99 %) | I 1 tilstand |
| ARVCFARVCF delta catenin family member | Meget ofte (80–99 %) | I 1 tilstand |
| ATP6V1AATPase H+ transporting V1 subunit A | Meget ofte (80–99 %) | I 2 tilstande |
| B3GALT6beta-1,3-galactosyltransferase 6 | Meget ofte (80–99 %) | I 1 tilstand |
| CCBE1collagen and calcium binding EGF domains 1 | Meget ofte (80–99 %) | I 2 tilstande |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Meget ofte (80–99 %) | I 3 tilstande |
| COMTcatechol-O-methyltransferase | Meget ofte (80–99 %) | I 1 tilstand |
| CWC27CWC27 spliceosome associated cyclophilin | Meget ofte (80–99 %) | I 2 tilstande |
| EFTUD2elongation factor Tu GTP binding domain containing 2 | Meget ofte (80–99 %) | I 2 tilstande |
| FAM20CFAM20C golgi associated secretory pathway kinase | Meget ofte (80–99 %) | I 2 tilstande |
| FAT4FAT atypical cadherin 4 | Meget ofte (80–99 %) | I 1 tilstand |
| FBN1fibrillin 1 | Meget ofte (80–99 %) | I 2 tilstande |
| FGF20fibroblast growth factor 20 | Meget ofte (80–99 %) | I 1 tilstand |
| FGFR2fibroblast growth factor receptor 2 | Meget ofte (80–99 %) | I 9 tilstande |
| GFRA1GDNF family receptor alpha 1 | Meget ofte (80–99 %) | I 1 tilstand |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Meget ofte (80–99 %) | I 2 tilstande |
| GP1BBglycoprotein Ib platelet subunit beta | Meget ofte (80–99 %) | I 1 tilstand |
| GPC6glypican 6 | Meget ofte (80–99 %) | I 1 tilstand |
| GREB1LGREB1 like retinoic acid receptor coactivator | Meget ofte (80–99 %) | I 1 tilstand |
| HDAC6histone deacetylase 6 | Meget ofte (80–99 %) | I 2 tilstande |
| HIRAhistone cell cycle regulator | Meget ofte (80–99 %) | I 1 tilstand |
| ITGA8integrin subunit alpha 8 | Meget ofte (80–99 %) | I 2 tilstande |
| JMJD1Cjumonji domain containing 1C | Meget ofte (80–99 %) | I 1 tilstand |
| KAT6Alysine acetyltransferase 6A | Meget ofte (80–99 %) | I 1 tilstand |
| KAT6Blysine acetyltransferase 6B | Meget ofte (80–99 %) | I 3 tilstande |
| KRASKRas proto-oncogene, GTPase | Meget ofte (80–99 %) | I 3 tilstande |
| LBRlamin B receptor | Meget ofte (80–99 %) | I 1 tilstand |
| LMNAlamin A/C | Meget ofte (80–99 %) | I 1 tilstand |
| MAP2K1mitogen-activated protein kinase kinase 1 | Meget ofte (80–99 %) | I 2 tilstande |
| MAP2K2mitogen-activated protein kinase kinase 2 | Meget ofte (80–99 %) | I 1 tilstand |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Meget ofte (80–99 %) | I 1 tilstand |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Meget ofte (80–99 %) | I 2 tilstande |
| POLEDNA polymerase epsilon, catalytic subunit | Meget ofte (80–99 %) | I 2 tilstande |
| PSAT1phosphoserine aminotransferase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| PTCH1patched 1 | Meget ofte (80–99 %) | I 1 tilstand |
| PTF1Apancreas associated transcription factor 1a | Meget ofte (80–99 %) | I 2 tilstande |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Meget ofte (80–99 %) | I 2 tilstande |
| RETret proto-oncogene | Meget ofte (80–99 %) | I 1 tilstand |
| RIT1Ras like without CAAX 1 | Meget ofte (80–99 %) | I 1 tilstand |
| RNU4ATACRNA, U4atac small nuclear | Meget ofte (80–99 %) | I 2 tilstande |
| RREB1ras responsive element binding protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| SEC24CSEC24 homolog C, COPII component | Meget ofte (80–99 %) | I 1 tilstand |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Meget ofte (80–99 %) | I 1 tilstand |
| SKISKI proto-oncogene | Meget ofte (80–99 %) | I 2 tilstande |
| SLC25A24solute carrier family 25 member 24 | Meget ofte (80–99 %) | I 1 tilstand |
| TAF1TATA-box binding protein associated factor 1 | Meget ofte (80–99 %) | I 2 tilstande |
| TBX1T-box transcription factor 1 | Meget ofte (80–99 %) | I 2 tilstande |
| TCTN3tectonic family member 3 | Meget ofte (80–99 %) | I 3 tilstande |
| TMEM70transmembrane protein 70 | Meget ofte (80–99 %) | I 2 tilstande |
| TMEM94transmembrane protein 94 | Meget ofte (80–99 %) | I 1 tilstand |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Meget ofte (80–99 %) | I 1 tilstand |
| WNT9BWnt family member 9B | Meget ofte (80–99 %) | I 1 tilstand |
| ZBTB18zinc finger and BTB domain containing 18 | Meget ofte (80–99 %) | I 2 tilstande |
| ZMPSTE24zinc metallopeptidase STE24 | Meget ofte (80–99 %) | I 2 tilstande |
| ACOX1acyl-CoA oxidase 1 | Ofte (30–79 %) | I 2 tilstande |
| ADAMTS2ADAM metallopeptidase with thrombospondin type 1 motif 2 | Ofte (30–79 %) | I 2 tilstande |
| ADAMTSL2ADAMTS like 2 | Ofte (30–79 %) | I 1 tilstand |
| ADGRG6adhesion G protein-coupled receptor G6 | Ofte (30–79 %) | I 1 tilstand |
| AHDC1AT-hook DNA binding motif containing 1 | Ofte (30–79 %) | I 2 tilstande |
| ALDH1A2aldehyde dehydrogenase 1 family member A2 | Ofte (30–79 %) | I 1 tilstand |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Ofte (30–79 %) | I 1 tilstand |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Ofte (30–79 %) | I 2 tilstande |
| ALPK3alpha kinase 3 | Ofte (30–79 %) | I 1 tilstand |
| ALX4ALX homeobox 4 | Ofte (30–79 %) | I 2 tilstande |
| ANO1anoctamin 1 | Ofte (30–79 %) | I 1 tilstand |
| ANTXR2ANTXR cell adhesion molecule 2 | Ofte (30–79 %) | I 1 tilstand |
| AP1G1adaptor related protein complex 1 subunit gamma 1 | Ofte (30–79 %) | I 1 tilstand |
| ARID2AT-rich interaction domain 2 | Ofte (30–79 %) | I 1 tilstand |
| ASXL1ASXL transcriptional regulator 1 | Ofte (30–79 %) | I 1 tilstand |
| ASXL2ASXL transcriptional regulator 2 | Ofte (30–79 %) | I 1 tilstand |
| ASXL3ASXL transcriptional regulator 3 | Ofte (30–79 %) | I 1 tilstand |
| ATP6AP2ATPase H+ transporting accessory protein 2 | Ofte (30–79 %) | I 1 tilstand |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Ofte (30–79 %) | I 1 tilstand |
| ATXN7L3ataxin 7 like 3 | Ofte (30–79 %) | I 1 tilstand |
| AUTS2activator of transcription and developmental regulator AUTS2 | Ofte (30–79 %) | I 2 tilstande |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Ofte (30–79 %) | I 1 tilstand |
| B4GALT1beta-1,4-galactosyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| B4GALT7beta-1,4-galactosyltransferase 7 | Ofte (30–79 %) | I 1 tilstand |
| BCL11ABCL11 transcription factor A | Ofte (30–79 %) | I 2 tilstande |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Ofte (30–79 %) | I 1 tilstand |
| BMP2bone morphogenetic protein 2 | Ofte (30–79 %) | I 1 tilstand |
| BORCS8BLOC-1 related complex subunit 8 | Ofte (30–79 %) | I 1 tilstand |
| CACHD1cache domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Ofte (30–79 %) | I 1 tilstand |
| CAV1caveolin 1 | Ofte (30–79 %) | I 1 tilstand |
| CCDC22CCC complex scaffolding subunit CCDC22 | Ofte (30–79 %) | I 1 tilstand |
| CDC45cell division cycle 45 | Ofte (30–79 %) | I 2 tilstande |
| CDH2cadherin 2 | Ofte (30–79 %) | I 1 tilstand |
| CEP152centrosomal protein 152 | Ofte (30–79 %) | I 1 tilstand |
| CHAMP1chromosome alignment maintaining phosphoprotein 1 | Ofte (30–79 %) | I 1 tilstand |
| CHD7chromodomain helicase DNA binding protein 7 | Ofte (30–79 %) | I 1 tilstand |
| CHRNGcholinergic receptor nicotinic gamma subunit | Ofte (30–79 %) | I 3 tilstande |
| CHST3carbohydrate sulfotransferase 3 | Ofte (30–79 %) | I 1 tilstand |
| CILK1ciliogenesis associated kinase 1 | Ofte (30–79 %) | I 2 tilstande |
| COG5component of oligomeric golgi complex 5 | Ofte (30–79 %) | I 1 tilstand |
| COL11A1collagen type XI alpha 1 chain | Ofte (30–79 %) | I 3 tilstande |
| COL11A2collagen type XI alpha 2 chain | Ofte (30–79 %) | I 1 tilstand |
| COL2A1collagen type II alpha 1 chain | Ofte (30–79 %) | I 2 tilstande |
| CSNK2A1casein kinase 2 alpha 1 | Ofte (30–79 %) | I 1 tilstand |
| CTSDcathepsin D | Ofte (30–79 %) | I 1 tilstand |
| CTU2cytosolic thiouridylase subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| DDX6DEAD-box helicase 6 | Ofte (30–79 %) | I 1 tilstand |
| DHCR2424-dehydrocholesterol reductase | Ofte (30–79 %) | I 2 tilstande |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Ofte (30–79 %) | I 2 tilstande |
| DLX4distal-less homeobox 4 | Ofte (30–79 %) | I 1 tilstand |
| DPF2double PHD fingers 2 | Ofte (30–79 %) | I 1 tilstand |
| DPYSL5dihydropyrimidinase like 5 | Ofte (30–79 %) | I 1 tilstand |
| DYNC2LI1dynein cytoplasmic 2 light intermediate chain 1 | Ofte (30–79 %) | I 1 tilstand |
| EBF3EBF transcription factor 3 | Ofte (30–79 %) | I 2 tilstande |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Ofte (30–79 %) | I 1 tilstand |
| EFL1elongation factor like GTPase 1 | Ofte (30–79 %) | I 1 tilstand |
| EIF5Aeukaryotic translation initiation factor 5A | Ofte (30–79 %) | I 1 tilstand |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Ofte (30–79 %) | I 1 tilstand |
| ERCC5ERCC excision repair 5, endonuclease | Ofte (30–79 %) | I 1 tilstand |
| EXOC2exocyst complex component 2 | Ofte (30–79 %) | I 1 tilstand |
| FANCBFA complementation group B | Ofte (30–79 %) | I 1 tilstand |
| FANCLFA complementation group L | Ofte (30–79 %) | I 1 tilstand |
| FBXO22F-box protein 22 | Ofte (30–79 %) | I 1 tilstand |
| FDFT1farnesyl-diphosphate farnesyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| FGFR1fibroblast growth factor receptor 1 | Ofte (30–79 %) | I 3 tilstande |
| FKRPfukutin related protein | Ofte (30–79 %) | I 2 tilstande |
| FKTNfukutin | Ofte (30–79 %) | I 2 tilstande |
| FOXL2forkhead box L2 | Ofte (30–79 %) | I 1 tilstand |
| FRA10AC1FRA10A associated CGG repeat 1 | Ofte (30–79 %) | I 1 tilstand |
| FREM1FRAS1 related extracellular matrix 1 | Ofte (30–79 %) | I 1 tilstand |
| GATA4GATA binding protein 4 | Ofte (30–79 %) | I 1 tilstand |
| GMNNgeminin DNA replication inhibitor | Ofte (30–79 %) | I 1 tilstand |
| GNSglucosamine (N-acetyl)-6-sulfatase | Ofte (30–79 %) | I 1 tilstand |
| GON4Lgon-4 like | Ofte (30–79 %) | I 1 tilstand |
| GPC4glypican 4 | Ofte (30–79 %) | I 1 tilstand |
| GPKOWG-patch domain and KOW motifs | Ofte (30–79 %) | I 1 tilstand |
| GPT2glutamic--pyruvic transaminase 2 | Ofte (30–79 %) | I 2 tilstande |
| H4C3H4 clustered histone 3 | Ofte (30–79 %) | I 1 tilstand |
| H4C9H4 clustered histone 9 | Ofte (30–79 %) | I 1 tilstand |
| HEATR3HEAT repeat containing 3 | Ofte (30–79 %) | I 2 tilstande |
| HMGA2high mobility group AT-hook 2 | Ofte (30–79 %) | I 1 tilstand |
| HS2ST1heparan sulfate 2-O-sulfotransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Ofte (30–79 %) | I 1 tilstand |
| HSPG2heparan sulfate proteoglycan 2 | Ofte (30–79 %) | I 2 tilstande |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Ofte (30–79 %) | I 1 tilstand |
| HYAL2hyaluronidase 2 | Ofte (30–79 %) | I 1 tilstand |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Ofte (30–79 %) | I 3 tilstande |
| IFT81intraflagellar transport 81 | Ofte (30–79 %) | I 1 tilstand |
| IGF2insulin like growth factor 2 | Ofte (30–79 %) | I 2 tilstande |
| INTS1integrator complex subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| KAT5lysine acetyltransferase 5 | Ofte (30–79 %) | I 1 tilstand |
| KAT8lysine acetyltransferase 8 | Ofte (30–79 %) | I 1 tilstand |
| KATNB1katanin regulatory subunit B1 | Ofte (30–79 %) | I 1 tilstand |
| KCNK4potassium two pore domain channel subfamily K member 4 | Ofte (30–79 %) | I 1 tilstand |
| KDM6Alysine demethylase 6A | Ofte (30–79 %) | I 2 tilstande |
| KIF14kinesin family member 14 | Ofte (30–79 %) | I 1 tilstand |
| KMT2Dlysine methyltransferase 2D | Ofte (30–79 %) | I 2 tilstande |
| KYNUkynureninase | Ofte (30–79 %) | I 1 tilstand |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Ofte (30–79 %) | I 2 tilstande |
| LARP7La ribonucleoprotein 7, transcriptional regulator | Ofte (30–79 %) | I 2 tilstande |
| LRP2LDL receptor related protein 2 | Ofte (30–79 %) | I 1 tilstand |
| MAB21L1mab-21 like 1 | Ofte (30–79 %) | I 2 tilstande |
| MAFMAF bZIP transcription factor | Ofte (30–79 %) | I 2 tilstande |
| MAN1B1mannosidase alpha class 1B member 1 | Ofte (30–79 %) | I 2 tilstande |
| MAPK1mitogen-activated protein kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| MAPRE2microtubule associated protein RP/EB family member 2 | Ofte (30–79 %) | I 1 tilstand |
| MCTP2multiple C2 and transmembrane domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| MED12mediator complex subunit 12 | Ofte (30–79 %) | I 3 tilstande |
| MED13Lmediator complex subunit 13L | Ofte (30–79 %) | I 2 tilstande |
| MED16mediator complex subunit 16 | Ofte (30–79 %) | I 1 tilstand |
| MEGF8multiple EGF like domains 8 | Ofte (30–79 %) | I 1 tilstand |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Ofte (30–79 %) | I 1 tilstand |
| MRPS2mitochondrial ribosomal protein S2 | Ofte (30–79 %) | I 1 tilstand |
| MSL3MSL complex subunit 3 | Ofte (30–79 %) | I 1 tilstand |
| MUSKmuscle associated receptor tyrosine kinase | Ofte (30–79 %) | I 1 tilstand |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Ofte (30–79 %) | I 2 tilstande |
| MYMXmyomixer, myoblast fusion factor | Ofte (30–79 %) | I 1 tilstand |
| MYO18Bmyosin XVIIIB | Ofte (30–79 %) | I 1 tilstand |
| NDE1nudE neurodevelopment protein 1 | Ofte (30–79 %) | I 1 tilstand |
| NEU1neuraminidase 1 | Ofte (30–79 %) | I 2 tilstande |
| NFIXnuclear factor I X | Ofte (30–79 %) | I 2 tilstande |
| NIPBLNIPBL cohesin loading factor | Ofte (30–79 %) | I 1 tilstand |
| NSUN6NOP2/Sun RNA methyltransferase 6 | Ofte (30–79 %) | I 1 tilstand |
| NXNnucleoredoxin | Ofte (30–79 %) | I 1 tilstand |
| ORC4origin recognition complex subunit 4 | Ofte (30–79 %) | I 1 tilstand |
| ORC6origin recognition complex subunit 6 | Ofte (30–79 %) | I 2 tilstande |
| OTUD5OTU deubiquitinase 5 | Ofte (30–79 %) | I 1 tilstand |
| OTUD6BOTU deubiquitinase 6B | Ofte (30–79 %) | I 2 tilstande |
| PACS1phosphofurin acidic cluster sorting protein 1 | Ofte (30–79 %) | I 2 tilstande |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Ofte (30–79 %) | I 1 tilstand |
| PCGF2polycomb group ring finger 2 | Ofte (30–79 %) | I 1 tilstand |
| PCNTpericentrin | Ofte (30–79 %) | I 1 tilstand |
| PHACTR1phosphatase and actin regulator 1 | Ofte (30–79 %) | I 1 tilstand |
| PHGDHphosphoglycerate dehydrogenase | Ofte (30–79 %) | I 1 tilstand |
| PITX1paired like homeodomain 1 | Ofte (30–79 %) | I 1 tilstand |
| PLAAphospholipase A2 activating protein | Ofte (30–79 %) | I 1 tilstand |
| PLAG1PLAG1 zinc finger | Ofte (30–79 %) | I 1 tilstand |
| POGZpogo transposable element derived with ZNF domain | Ofte (30–79 %) | I 1 tilstand |
| POLR1ARNA polymerase I subunit A | Ofte (30–79 %) | I 1 tilstand |
| POMT1protein O-mannosyltransferase 1 | Ofte (30–79 %) | I 2 tilstande |
| POMT2protein O-mannosyltransferase 2 | Ofte (30–79 %) | I 2 tilstande |
| PORcytochrome p450 oxidoreductase | Ofte (30–79 %) | I 2 tilstande |
| PPFIA3PPFI scaffold protein A3 | Ofte (30–79 %) | I 1 tilstand |
| PPM1Dprotein phosphatase, Mg2+/Mn2+ dependent 1D | Ofte (30–79 %) | I 1 tilstand |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Ofte (30–79 %) | I 1 tilstand |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Ofte (30–79 %) | I 1 tilstand |
| PRKG2protein kinase cGMP-dependent 2 | Ofte (30–79 %) | I 1 tilstand |
| PRR12proline rich 12 | Ofte (30–79 %) | I 1 tilstand |
| PTBP1polypyrimidine tract binding protein 1 | Ofte (30–79 %) | I 1 tilstand |
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Ofte (30–79 %) | I 1 tilstand |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Ofte (30–79 %) | I 2 tilstande |
| PUM1pumilio RNA binding family member 1 | Ofte (30–79 %) | I 1 tilstand |
| PUS7pseudouridine synthase 7 | Ofte (30–79 %) | I 1 tilstand |
| PYCR1pyrroline-5-carboxylate reductase 1 | Ofte (30–79 %) | I 1 tilstand |
| PYCR2pyrroline-5-carboxylate reductase 2 | Ofte (30–79 %) | I 2 tilstande |
| QARS1glutaminyl-tRNA synthetase 1 | Ofte (30–79 %) | I 1 tilstand |
| QRICH1glutamine rich 1 | Ofte (30–79 %) | I 1 tilstand |
| RAB34RAB34, member RAS oncogene family | Ofte (30–79 %) | I 1 tilstand |
| RAD21RAD21 cohesin complex component | Ofte (30–79 %) | I 1 tilstand |
| RAP1BRAP1B, member of RAS oncogene family | Ofte (30–79 %) | I 1 tilstand |
| RB1RB transcriptional corepressor 1 | Ofte (30–79 %) | I 1 tilstand |
| RBM10RNA binding motif protein 10 | Ofte (30–79 %) | I 1 tilstand |
| RBSNrabenosyn, RAB effector | Ofte (30–79 %) | I 1 tilstand |
| RDH11retinol dehydrogenase 11 | Ofte (30–79 %) | I 1 tilstand |
| RELREL proto-oncogene, NF-kB subunit | Ofte (30–79 %) | I 1 tilstand |
| RELNreelin | Ofte (30–79 %) | I 1 tilstand |
| RIPK4receptor interacting serine/threonine kinase 4 | Ofte (30–79 %) | I 1 tilstand |
| ROR2ROR family WNT receptor 2 | Ofte (30–79 %) | I 1 tilstand |
| RPL17ribosomal protein L17 | Ofte (30–79 %) | I 1 tilstand |
| RPS23ribosomal protein S23 | Ofte (30–79 %) | I 1 tilstand |
| RUSC2RUN and SH3 domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| RYR1ryanodine receptor 1 | Ofte (30–79 %) | I 1 tilstand |
| SCNM1sodium channel modifier 1 | Ofte (30–79 %) | I 1 tilstand |
| SEPHS1selenophosphate synthetase 1 | Ofte (30–79 %) | I 1 tilstand |
| SETBP1SET binding protein 1 | Ofte (30–79 %) | I 3 tilstande |
| SETD5SET domain containing 5 | Ofte (30–79 %) | I 1 tilstand |
| SMAD2SMAD family member 2 | Ofte (30–79 %) | I 1 tilstand |
| SMARCD2SWI/SNF related BAF chromatin remodeling complex subunit D2 | Ofte (30–79 %) | I 1 tilstand |
| SMC3structural maintenance of chromosomes 3 | Ofte (30–79 %) | I 1 tilstand |
| SMG9SMG9 nonsense mediated mRNA decay factor | Ofte (30–79 %) | I 1 tilstand |
| SOX9SRY-box transcription factor 9 | Ofte (30–79 %) | I 2 tilstande |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Ofte (30–79 %) | I 1 tilstand |
| SPOPspeckle type BTB/POZ protein | Ofte (30–79 %) | I 1 tilstand |
| SRCAPSnf2 related CREBBP activator protein | Ofte (30–79 %) | I 2 tilstande |
| STRA6signaling receptor and transporter of retinol STRA6 | Ofte (30–79 %) | I 2 tilstande |
| TAOK1TAO kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| TBC1D24TBC1 domain family member 24 | Ofte (30–79 %) | I 2 tilstande |
| TBC1D32TBC1 domain family member 32 | Ofte (30–79 %) | I 1 tilstand |
| TBX2T-box transcription factor 2 | Ofte (30–79 %) | I 1 tilstand |
| TGDSTDP-glucose 4,6-dehydratase | Ofte (30–79 %) | I 1 tilstand |
| TGFBR1transforming growth factor beta receptor 1 | Ofte (30–79 %) | I 1 tilstand |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Ofte (30–79 %) | I 2 tilstande |
| TTC5tetratricopeptide repeat domain 5 | Ofte (30–79 %) | I 1 tilstand |
| TWIST1twist family bHLH transcription factor 1 | Ofte (30–79 %) | I 3 tilstande |
| TWIST2twist family bHLH transcription factor 2 | Ofte (30–79 %) | I 2 tilstande |
| TXNDC15thioredoxin domain containing 15 | Ofte (30–79 %) | I 1 tilstand |
| UBR7ubiquitin protein ligase E3 component n-recognin 7 | Ofte (30–79 %) | I 1 tilstand |
| UGP2UDP-glucose pyrophosphorylase 2 | Ofte (30–79 %) | I 1 tilstand |
| VAC14VAC14 component of PIKFYVE complex | Ofte (30–79 %) | I 1 tilstand |
| VARS1valyl-tRNA synthetase 1 | Ofte (30–79 %) | I 1 tilstand |
| VPS35LVPS35 endosomal protein sorting factor like | Ofte (30–79 %) | I 1 tilstand |
| WASHC4WASH complex subunit 4 | Ofte (30–79 %) | I 1 tilstand |
| WASHC5WASH complex subunit 5 | Ofte (30–79 %) | I 2 tilstande |
| WBP4WW domain binding protein 4 | Ofte (30–79 %) | I 1 tilstand |
| WDR37WD repeat domain 37 | Ofte (30–79 %) | I 1 tilstand |
| WNT4Wnt family member 4 | Ofte (30–79 %) | I 1 tilstand |
| WNT5AWnt family member 5A | Ofte (30–79 %) | I 2 tilstande |
| XPO1exportin 1 | Ofte (30–79 %) | I 1 tilstand |
| XYLT2xylosyltransferase 2 | Ofte (30–79 %) | I 2 tilstande |
| YWHAEtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon | Ofte (30–79 %) | I 1 tilstand |
| ZRSR2zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 | Ofte (30–79 %) | I 1 tilstand |
| ACTA1actin alpha 1, skeletal muscle | Nogle gange (5–29 %) | I 2 tilstande |
| ADARadenosine deaminase RNA specific | Nogle gange (5–29 %) | I 1 tilstand |
| ADAT3adenosine deaminase tRNA specific 3 | Nogle gange (5–29 %) | I 1 tilstand |
| ADNPactivity dependent neuroprotector homeobox | Nogle gange (5–29 %) | I 2 tilstande |
| AFF3ALF transcription elongation factor 3 | Nogle gange (5–29 %) | I 1 tilstand |
| AHI1Abelson helper integration site 1 | Nogle gange (5–29 %) | I 2 tilstande |
| AKT1AKT serine/threonine kinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ALG6ALG6 alpha-1,3-glucosyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| AMER1APC membrane recruitment protein 1 | Nogle gange (5–29 %) | I 2 tilstande |
| ARL13BARF like GTPase 13B | Nogle gange (5–29 %) | I 1 tilstand |
| ARL3ARF like GTPase 3 | Nogle gange (5–29 %) | I 2 tilstande |
| ARMC9armadillo repeat containing 9 | Nogle gange (5–29 %) | I 1 tilstand |
| ATP2B1ATPase plasma membrane Ca2+ transporting 1 | Nogle gange (5–29 %) | I 1 tilstand |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| B9D1B9 domain containing 1 | Nogle gange (5–29 %) | I 1 tilstand |
| B9D2B9 domain containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| BAP1BRCA1 associated deubiquitinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| BMPR1Abone morphogenetic protein receptor type 1A | Nogle gange (5–29 %) | I 1 tilstand |
| BRCC3BRCA1/BRCA2-containing complex subunit 3 | Nogle gange (5–29 %) | I 1 tilstand |
| BRD4bromodomain containing 4 | Nogle gange (5–29 %) | I 1 tilstand |
| CBY1chibby 1, beta catenin antagonist | Nogle gange (5–29 %) | I 1 tilstand |
| CC2D2Acoiled-coil and C2 domain containing 2A | Nogle gange (5–29 %) | I 1 tilstand |
| CCDC47coiled-coil domain containing 47 | Nogle gange (5–29 %) | I 1 tilstand |
| CCNQcyclin Q | Nogle gange (5–29 %) | I 1 tilstand |
| CDC42BPBCDC42 binding protein kinase beta | Nogle gange (5–29 %) | I 1 tilstand |
| CDCA7cell division cycle associated 7 | Nogle gange (5–29 %) | I 2 tilstande |
| CDK13cyclin dependent kinase 13 | Nogle gange (5–29 %) | I 1 tilstand |
| CEP104centrosomal protein 104 | Nogle gange (5–29 %) | I 1 tilstand |
| CEP120centrosomal protein 120 | Nogle gange (5–29 %) | I 1 tilstand |
| CEP41centrosomal protein 41 | Nogle gange (5–29 %) | I 1 tilstand |
| CHD5chromodomain helicase DNA binding protein 5 | Nogle gange (5–29 %) | I 1 tilstand |
| CHMP1Acharged multivesicular body protein 1A | Nogle gange (5–29 %) | I 1 tilstand |
| CHSY1chondroitin sulfate synthase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CLCN3Cl-/H+ antiporter 3 | Nogle gange (5–29 %) | I 1 tilstand |
| CNOT1CCR4-NOT transcription complex subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CNOT3CCR4-NOT transcription complex subunit 3 | Nogle gange (5–29 %) | I 1 tilstand |
| COG3component of oligomeric golgi complex 3 | Nogle gange (5–29 %) | I 1 tilstand |
| COG8component of oligomeric golgi complex 8 | Nogle gange (5–29 %) | I 1 tilstand |
| COL4A1collagen type IV alpha 1 chain | Nogle gange (5–29 %) | I 1 tilstand |
| COLEC10collectin subfamily member 10 | Nogle gange (5–29 %) | I 1 tilstand |
| COLEC11collectin subfamily member 11 | Nogle gange (5–29 %) | I 1 tilstand |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Nogle gange (5–29 %) | I 2 tilstande |
| CRELD1CRELD disulfide isomerase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CRPPACDP-L-ribitol pyrophosphorylase A | Nogle gange (5–29 %) | I 2 tilstande |
| CSPP1centrosome and spindle pole associated protein 1 | Nogle gange (5–29 %) | I 2 tilstande |
| CTCFCCCTC-binding factor | Nogle gange (5–29 %) | I 1 tilstand |
| CTNNB1catenin beta 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CUX1cut like homeobox 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DAG1dystroglycan 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DDB1damage specific DNA binding protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DDX3XDEAD-box helicase 3 X-linked | Nogle gange (5–29 %) | I 1 tilstand |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Nogle gange (5–29 %) | I 1 tilstand |
| DHPSdeoxyhypusine synthase | Nogle gange (5–29 %) | I 1 tilstand |
| DHX30DExH-box helicase 30 | Nogle gange (5–29 %) | I 1 tilstand |
| DNMT3BDNA methyltransferase 3 beta | Nogle gange (5–29 %) | I 2 tilstande |
| DVL3dishevelled segment polarity protein 3 | Nogle gange (5–29 %) | I 2 tilstande |
| EDEM3ER degradation enhancing alpha-mannosidase like protein 3 | Nogle gange (5–29 %) | I 1 tilstand |
| ELNelastin | Nogle gange (5–29 %) | I 1 tilstand |
| EPG5ectopic P-granules 5 autophagy tethering factor | Nogle gange (5–29 %) | I 1 tilstand |
| EXOC7exocyst complex component 7 | Nogle gange (5–29 %) | I 1 tilstand |
| FANCD2FA complementation group D2 | Nogle gange (5–29 %) | I 1 tilstand |
| FBLN5fibulin 5 | Nogle gange (5–29 %) | I 1 tilstand |
| FBXL4F-box and leucine rich repeat protein 4 | Nogle gange (5–29 %) | I 1 tilstand |
| FBXO11F-box protein 11 | Nogle gange (5–29 %) | I 1 tilstand |
| FGF10fibroblast growth factor 10 | Nogle gange (5–29 %) | I 1 tilstand |
| FGFR3fibroblast growth factor receptor 3 | Nogle gange (5–29 %) | I 2 tilstande |
| FOXE1forkhead box E1 | Nogle gange (5–29 %) | I 1 tilstand |
| FOXF1forkhead box F1 | Nogle gange (5–29 %) | I 1 tilstand |
| FOXP2forkhead box P2 | Nogle gange (5–29 %) | I 1 tilstand |
| FREM2FRAS1 related extracellular matrix 2 | Nogle gange (5–29 %) | I 1 tilstand |
| FRYLFRY like transcription coactivator | Nogle gange (5–29 %) | I 1 tilstand |
| FZD2frizzled class receptor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GABRA3gamma-aminobutyric acid type A receptor subunit alpha3 | Nogle gange (5–29 %) | I 1 tilstand |
| GAD1glutamate decarboxylase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GLB1galactosidase beta 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GNB2G protein subunit beta 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GTF3C3general transcription factor IIIC subunit 3 | Nogle gange (5–29 %) | I 1 tilstand |
| H3-3AH3.3 histone A | Nogle gange (5–29 %) | I 1 tilstand |
| H4C5H4 clustered histone 5 | Nogle gange (5–29 %) | I 1 tilstand |
| HELLShelicase, lymphoid specific | Nogle gange (5–29 %) | I 1 tilstand |
| IFIH1interferon induced with helicase C domain 1 | Nogle gange (5–29 %) | I 1 tilstand |
| IFT74intraflagellar transport 74 | Nogle gange (5–29 %) | I 1 tilstand |
| INPPL1inositol polyphosphate phosphatase like 1 | Nogle gange (5–29 %) | I 1 tilstand |
| INSRinsulin receptor | Nogle gange (5–29 %) | I 2 tilstande |
| IPO8importin 8 | Nogle gange (5–29 %) | I 1 tilstand |
| JARID2jumonji and AT-rich interaction domain containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| KATNIPkatanin interacting protein | Nogle gange (5–29 %) | I 1 tilstand |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNJ2potassium inwardly rectifying channel subfamily J member 2 | Nogle gange (5–29 %) | I 2 tilstande |
| KCNJ5potassium inwardly rectifying channel subfamily J member 5 | Nogle gange (5–29 %) | I 1 tilstand |
| KCTD1potassium channel tetramerization domain containing 1 | Nogle gange (5–29 %) | I 1 tilstand |
| KDM4Blysine demethylase 4B | Nogle gange (5–29 %) | I 1 tilstand |
| KDM5Alysine demethylase 5A | Nogle gange (5–29 %) | I 1 tilstand |
| KIAA0586KIAA0586 | Nogle gange (5–29 %) | I 3 tilstande |
| KIF15kinesin family member 15 | Nogle gange (5–29 %) | I 1 tilstand |
| KIF26Akinesin family member 26A | Nogle gange (5–29 %) | I 1 tilstand |
| KLHL40kelch like family member 40 | Nogle gange (5–29 %) | I 1 tilstand |
| KLHL41kelch like family member 41 | Nogle gange (5–29 %) | I 2 tilstande |
| KMT2Alysine methyltransferase 2A | Nogle gange (5–29 %) | I 2 tilstande |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| LMOD3leiomodin 3 | Nogle gange (5–29 %) | I 1 tilstand |
| LMX1BLIM homeobox transcription factor 1 beta | Nogle gange (5–29 %) | I 1 tilstand |
| LRPPRCleucine rich pentatricopeptide repeat containing | Nogle gange (5–29 %) | I 1 tilstand |
| LRRC7leucine rich repeat containing 7 | Nogle gange (5–29 %) | I 1 tilstand |
| LSM11LSM11, U7 small nuclear RNA associated | Nogle gange (5–29 %) | I 1 tilstand |
| MACF1microtubule actin crosslinking factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MADDMAP kinase activating death domain | Nogle gange (5–29 %) | I 1 tilstand |
| MARK2microtubule affinity regulating kinase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MASP1MBL associated serine protease 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MAU2MAU2 sister chromatid cohesion factor | Nogle gange (5–29 %) | I 1 tilstand |
| MED25mediator complex subunit 25 | Nogle gange (5–29 %) | I 2 tilstande |
| MED27mediator complex subunit 27 | Nogle gange (5–29 %) | I 1 tilstand |
| MEIS2Meis homeobox 2 | Nogle gange (5–29 %) | I 2 tilstande |
| MESDmesoderm development LRP chaperone | Nogle gange (5–29 %) | I 1 tilstand |
| MID1midline 1 | Nogle gange (5–29 %) | I 2 tilstande |
| MINPP1multiple inositol-polyphosphate phosphatase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MKS1MKS transition zone complex subunit 1 | Nogle gange (5–29 %) | I 2 tilstande |
| MSL2MSL complex subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MTHFRmethylenetetrahydrofolate reductase | Nogle gange (5–29 %) | I 1 tilstand |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Nogle gange (5–29 %) | I 3 tilstande |
| NAA20N-alpha-acetyltransferase 20, NatB catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| NARS1asparaginyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NEBnebulin | Nogle gange (5–29 %) | I 3 tilstande |
| NEK9NIMA related kinase 9 | Nogle gange (5–29 %) | I 1 tilstand |
| NGLY1N-glycanase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NSRP1nuclear speckle splicing regulatory protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NTNG2netrin G2 | Nogle gange (5–29 %) | I 1 tilstand |
| PAX7paired box 7 | Nogle gange (5–29 %) | I 1 tilstand |
| PCDHGC4protocadherin gamma subfamily C, 4 | Nogle gange (5–29 %) | I 1 tilstand |
| PDE6Dphosphodiesterase 6D | Nogle gange (5–29 %) | I 1 tilstand |
| PDZD8PDZ domain containing 8 | Nogle gange (5–29 %) | I 1 tilstand |
| PIBF1progesterone immunomodulatory binding factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Nogle gange (5–29 %) | I 1 tilstand |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Nogle gange (5–29 %) | I 2 tilstande |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Nogle gange (5–29 %) | I 1 tilstand |
| PLAAT3phospholipase A and acyltransferase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| PLCB4phospholipase C beta 4 | Nogle gange (5–29 %) | I 1 tilstand |
| PLCH1phospholipase C eta 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PLXND1plexin D1 | Nogle gange (5–29 %) | I 1 tilstand |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Nogle gange (5–29 %) | I 1 tilstand |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Nogle gange (5–29 %) | I 1 tilstand |
| POMKprotein O-mannose kinase | Nogle gange (5–29 %) | I 1 tilstand |
| PORCNporcupine O-acyltransferase | Nogle gange (5–29 %) | I 2 tilstande |
| PPP1R12Aprotein phosphatase 1 regulatory subunit 12A | Nogle gange (5–29 %) | I 1 tilstand |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Nogle gange (5–29 %) | I 1 tilstand |
| PRKDCprotein kinase, DNA-activated, catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| PRUNE1prune exopolyphosphatase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PTENphosphatase and tensin homolog | Nogle gange (5–29 %) | I 1 tilstand |
| PURApurine rich element binding protein A | Nogle gange (5–29 %) | I 1 tilstand |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RAC1Rac family small GTPase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RALGAPA1Ral GTPase activating protein catalytic subunit alpha 1 | Nogle gange (5–29 %) | I 1 tilstand |
| REREarginine-glutamic acid dipeptide repeats | Nogle gange (5–29 %) | I 1 tilstand |
| RNASEH2Aribonuclease H2 subunit A | Nogle gange (5–29 %) | I 2 tilstande |
| RNASEH2Bribonuclease H2 subunit B | Nogle gange (5–29 %) | I 1 tilstand |
| RNASEH2Cribonuclease H2 subunit C | Nogle gange (5–29 %) | I 1 tilstand |
| RNU4-2RNA, U4 small nuclear 2 | Nogle gange (5–29 %) | I 1 tilstand |
| RNU7-1RNA, U7 small nuclear 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RPGRIP1LRPGRIP1 like | Nogle gange (5–29 %) | I 1 tilstand |
| RPL10ribosomal protein L10 | Nogle gange (5–29 %) | I 1 tilstand |
| RPS26ribosomal protein S26 | Nogle gange (5–29 %) | I 2 tilstande |
| RRAGCRas related GTP binding C | Nogle gange (5–29 %) | I 1 tilstand |
| RXYLT1ribitol xylosyltransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Nogle gange (5–29 %) | I 1 tilstand |
| SETD1ASET domain containing 1A, histone lysine methyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| SGSM3small G protein signaling modulator 3 | Nogle gange (5–29 %) | I 1 tilstand |
| SIM1SIM bHLH transcription factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC1A4solute carrier family 1 member 4 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC26A2solute carrier family 26 member 2 | Nogle gange (5–29 %) | I 2 tilstande |
| SLC39A8solute carrier family 39 member 8 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC4A10solute carrier family 4 member 10 | Nogle gange (5–29 %) | I 1 tilstand |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SMC5structural maintenance of chromosomes 5 | Nogle gange (5–29 %) | I 1 tilstand |
| SMG8SMG8 nonsense mediated mRNA decay factor | Nogle gange (5–29 %) | I 1 tilstand |
| SMPD1sphingomyelin phosphodiesterase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SMSspermine synthase | Nogle gange (5–29 %) | I 1 tilstand |
| SONSON DNA and RNA binding protein | Nogle gange (5–29 %) | I 2 tilstande |
| SOX4SRY-box transcription factor 4 | Nogle gange (5–29 %) | I 1 tilstand |
| SOX6SRY-box transcription factor 6 | Nogle gange (5–29 %) | I 1 tilstand |
| SPARTspartin | Nogle gange (5–29 %) | I 1 tilstand |
| SPENspen family transcriptional repressor | Nogle gange (5–29 %) | I 1 tilstand |
| SPINT2serine peptidase inhibitor, Kunitz type 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SRRM2serine/arginine repetitive matrix 2 | Nogle gange (5–29 %) | I 1 tilstand |
| STAG1STAG1 cohesin complex component | Nogle gange (5–29 %) | I 1 tilstand |
| STAG2STAG2 cohesin complex component | Nogle gange (5–29 %) | I 2 tilstande |
| STXBP1syntaxin binding protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SUFUSUFU negative regulator of hedgehog signaling | Nogle gange (5–29 %) | I 1 tilstand |
| SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit | Nogle gange (5–29 %) | I 1 tilstand |
| TBCKTBC1 domain containing kinase | Nogle gange (5–29 %) | I 1 tilstand |
| TCTN1tectonic family member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TCTN2tectonic family member 2 | Nogle gange (5–29 %) | I 2 tilstande |
| TEFMtranscription elongation factor, mitochondrial | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM218transmembrane protein 218 | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM237transmembrane protein 237 | Nogle gange (5–29 %) | I 2 tilstande |
| TMEM260transmembrane protein 260 | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM67transmembrane protein 67 | Nogle gange (5–29 %) | I 2 tilstande |
| TOE1target of EGR1, exonuclease | Nogle gange (5–29 %) | I 1 tilstand |
| TPM3tropomyosin 3 | Nogle gange (5–29 %) | I 1 tilstand |
| TRAF7TNF receptor associated factor 7 | Nogle gange (5–29 %) | I 1 tilstand |
| TREX1three prime repair exonuclease 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TRIP12thyroid hormone receptor interactor 12 | Nogle gange (5–29 %) | I 1 tilstand |
| TRIP13thyroid hormone receptor interactor 13 | Nogle gange (5–29 %) | I 1 tilstand |
| TRPV6transient receptor potential cation channel subfamily V member 6 | Nogle gange (5–29 %) | I 1 tilstand |
| TSPEARthrombospondin type laminin G domain and EAR repeats | Nogle gange (5–29 %) | I 1 tilstand |
| TTI1TELO2 interacting protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TUBB3tubulin beta 3 class III | Nogle gange (5–29 %) | I 1 tilstand |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Nogle gange (5–29 %) | I 1 tilstand |
| UHRF1ubiquitin like with PHD and ring finger domains 1 | Nogle gange (5–29 %) | I 1 tilstand |
| UPF3BUPF3B regulator of nonsense mediated mRNA decay | Nogle gange (5–29 %) | I 1 tilstand |
| USP7ubiquitin specific peptidase 7 | Nogle gange (5–29 %) | I 1 tilstand |
| USP9Xubiquitin specific peptidase 9 X-linked | Nogle gange (5–29 %) | I 2 tilstande |
| VANGL2VANGL planar cell polarity protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| VIPAS39VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog | Nogle gange (5–29 %) | I 2 tilstande |
| VPS33BVPS33B late endosome and lysosome associated | Nogle gange (5–29 %) | I 2 tilstande |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Nogle gange (5–29 %) | I 1 tilstand |
| WBP11WW domain binding protein 11 | Nogle gange (5–29 %) | I 1 tilstand |
| WNT7BWnt family member 7B | Nogle gange (5–29 %) | I 1 tilstand |
| YY1YY1 transcription factor | Nogle gange (5–29 %) | I 2 tilstande |
| ZBTB24zinc finger and BTB domain containing 24 | Nogle gange (5–29 %) | I 2 tilstande |
| ZDHHC9zDHHC palmitoyltransferase 9 | Nogle gange (5–29 %) | I 1 tilstand |
| ZFXzinc finger protein X-linked | Nogle gange (5–29 %) | I 1 tilstand |
| ZIC3Zic family zinc finger 3 | Nogle gange (5–29 %) | I 1 tilstand |
| ZMYM2zinc finger MYM-type containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ZNF148zinc finger protein 148 | Nogle gange (5–29 %) | I 1 tilstand |
| ZNF292zinc finger protein 292 | Nogle gange (5–29 %) | I 1 tilstand |
| ZNF462zinc finger protein 462 | Nogle gange (5–29 %) | I 2 tilstande |
| ZNF699zinc finger protein 699 | Nogle gange (5–29 %) | I 1 tilstand |
| ZSWIM6zinc finger SWIM-type containing 6 | Nogle gange (5–29 %) | I 1 tilstand |
| ADA2adenosine deaminase 2 | Sjældent (1–4%) | I 1 tilstand |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Sjældent (1–4%) | I 1 tilstand |
| DZIP1LDAZ interacting zinc finger protein 1 like | Sjældent (1–4%) | I 1 tilstand |
| GATA1GATA binding protein 1 | Sjældent (1–4%) | I 1 tilstand |
| GJA5gap junction protein alpha 5 | Sjældent (1–4%) | I 1 tilstand |
| GJA8gap junction protein alpha 8 | Sjældent (1–4%) | I 1 tilstand |
| MMACHCmetabolism of cobalamin associated C | Sjældent (1–4%) | I 2 tilstande |
| PKHD1PKHD1 ciliary IPT domain containing fibrocystin/polyductin | Sjældent (1–4%) | I 1 tilstand |
| RPL11ribosomal protein L11 | Sjældent (1–4%) | I 1 tilstand |
| RPL15ribosomal protein L15 | Sjældent (1–4%) | I 1 tilstand |
| RPL18ribosomal protein L18 | Sjældent (1–4%) | I 1 tilstand |
| RPL26ribosomal protein L26 | Sjældent (1–4%) | I 1 tilstand |
| RPL27ribosomal protein L27 | Sjældent (1–4%) | I 1 tilstand |
| RPL31ribosomal protein L31 | Sjældent (1–4%) | I 1 tilstand |
| RPL35ribosomal protein L35 | Sjældent (1–4%) | I 1 tilstand |
| RPL35Aribosomal protein L35a | Sjældent (1–4%) | I 2 tilstande |
| RPL5ribosomal protein L5 | Sjældent (1–4%) | I 1 tilstand |
| RPL8ribosomal protein L8 | Sjældent (1–4%) | I 1 tilstand |
| RPL9ribosomal protein L9 | Sjældent (1–4%) | I 1 tilstand |
| RPS10ribosomal protein S10 | Sjældent (1–4%) | I 1 tilstand |
| RPS15Aribosomal protein S15a | Sjældent (1–4%) | I 1 tilstand |
| RPS17ribosomal protein S17 | Sjældent (1–4%) | I 1 tilstand |
| RPS19ribosomal protein S19 | Sjældent (1–4%) | I 1 tilstand |
| RPS20ribosomal protein S20 | Sjældent (1–4%) | I 1 tilstand |
| RPS24ribosomal protein S24 | Sjældent (1–4%) | I 1 tilstand |
| RPS27ribosomal protein S27 | Sjældent (1–4%) | I 1 tilstand |
| RPS28ribosomal protein S28 | Sjældent (1–4%) | I 1 tilstand |
| RPS29ribosomal protein S29 | Sjældent (1–4%) | I 1 tilstand |
| RPS7ribosomal protein S7 | Sjældent (1–4%) | I 1 tilstand |
| TMEM147transmembrane protein 147 | Sjældent (1–4%) | I 1 tilstand |
| TSR2TSR2 ribosome maturation factor | Sjældent (1–4%) | I 1 tilstand |
| ACP5acid phosphatase 5, tartrate resistant | Ikke registreret | I 1 tilstand |
| ACTBactin beta | Ikke registreret | I 1 tilstand |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Ikke registreret | I 1 tilstand |
| ALX3ALX homeobox 3 | Ikke registreret | I 1 tilstand |
| ARID1BAT-rich interaction domain 1B | Ikke registreret | I 1 tilstand |
| ARXaristaless related homeobox | Ikke registreret | I 1 tilstand |
| ATN1atrophin 1 | Ikke registreret | I 1 tilstand |
| ATRATR checkpoint kinase | Ikke registreret | I 1 tilstand |
| B3GLCTbeta 3-glucosyltransferase | Ikke registreret | I 1 tilstand |
| BCORBCL6 corepressor | Ikke registreret | I 1 tilstand |
| BLTP1bridge-like lipid transfer protein family member 1 | Ikke registreret | I 1 tilstand |
| BMP4bone morphogenetic protein 4 | Ikke registreret | I 1 tilstand |
| BMPERBMP binding endothelial regulator | Ikke registreret | I 1 tilstand |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Ikke registreret | I 1 tilstand |
| C12orf57chromosome 12 open reading frame 57 | Ikke registreret | I 1 tilstand |
| C2CD3C2 domain containing 3 centriole elongation regulator | Ikke registreret | I 1 tilstand |
| CAMK2Gcalcium/calmodulin dependent protein kinase II gamma | Ikke registreret | I 1 tilstand |
| CAMTA1calmodulin binding transcription activator 1 | Ikke registreret | I 1 tilstand |
| CBLCbl proto-oncogene | Ikke registreret | I 1 tilstand |
| CCN2cellular communication network factor 2 | Ikke registreret | I 1 tilstand |
| CD96CD96 molecule | Ikke registreret | I 1 tilstand |
| CDC42cell division cycle 42 | Ikke registreret | I 1 tilstand |
| CDH11cadherin 11 | Ikke registreret | I 1 tilstand |
| CENPFcentromere protein F | Ikke registreret | I 1 tilstand |
| CHD3chromodomain helicase DNA binding protein 3 | Ikke registreret | I 1 tilstand |
| CHD4chromodomain helicase DNA binding protein 4 | Ikke registreret | I 1 tilstand |
| CHRNA1cholinergic receptor nicotinic alpha 1 subunit | Ikke registreret | I 1 tilstand |
| CHRNDcholinergic receptor nicotinic delta subunit | Ikke registreret | I 1 tilstand |
| CNTNAP1contactin associated protein 1 | Ikke registreret | I 1 tilstand |
| CPT2carnitine palmitoyltransferase 2 | Ikke registreret | I 1 tilstand |
| CRLF1cytokine receptor like factor 1 | Ikke registreret | I 1 tilstand |
| DDR2discoidin domain receptor tyrosine kinase 2 | Ikke registreret | I 1 tilstand |
| DHODHdihydroorotate dehydrogenase (quinone) | Ikke registreret | I 1 tilstand |
| DOCK6dedicator of cytokinesis 6 | Ikke registreret | I 1 tilstand |
| EDNRAendothelin receptor type A | Ikke registreret | I 1 tilstand |
| EEDembryonic ectoderm development | Ikke registreret | I 1 tilstand |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Ikke registreret | I 1 tilstand |
| EIF4A3eukaryotic translation initiation factor 4A3 | Ikke registreret | I 1 tilstand |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Ikke registreret | I 1 tilstand |
| EXOSC9exosome component 9 | Ikke registreret | I 1 tilstand |
| EYA1EYA transcriptional coactivator and phosphatase 1 | Ikke registreret | I 1 tilstand |
| FHL1four and a half LIM domains 1 | Ikke registreret | I 1 tilstand |
| FRAS1Fraser extracellular matrix complex subunit 1 | Ikke registreret | I 1 tilstand |
| FRMD4AFERM domain containing 4A | Ikke registreret | I 1 tilstand |
| GBA1glucosylceramidase beta 1 | Ikke registreret | I 1 tilstand |
| GJA1gap junction protein alpha 1 | Ikke registreret | I 1 tilstand |
| GKglycerol kinase | Ikke registreret | I 1 tilstand |
| GLE1GLE1 RNA export mediator | Ikke registreret | I 1 tilstand |
| GLIS3GLIS family zinc finger 3 | Ikke registreret | I 1 tilstand |
| GNAI3G protein subunit alpha i3 | Ikke registreret | I 1 tilstand |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Ikke registreret | I 1 tilstand |
| HRASHRas proto-oncogene, GTPase | Ikke registreret | I 1 tilstand |
| IGF1Rinsulin like growth factor 1 receptor | Ikke registreret | I 1 tilstand |
| KIFBPkinesin family binding protein | Ikke registreret | I 1 tilstand |
| LMBRD1LMBR1 domain containing 1 | Ikke registreret | I 1 tilstand |
| LRRC8Aleucine rich repeat containing 8 VRAC subunit A | Ikke registreret | I 1 tilstand |
| MAGEL2MAGE family member L2 | Ikke registreret | I 1 tilstand |
| MBD5methyl-CpG binding domain protein 5 | Ikke registreret | I 1 tilstand |
| MECP2methyl-CpG binding protein 2 | Ikke registreret | I 1 tilstand |
| MEF2Cmyocyte enhancer factor 2C | Ikke registreret | I 1 tilstand |
| MRPS22mitochondrial ribosomal protein S22 | Ikke registreret | I 1 tilstand |
| MVKmevalonate kinase | Ikke registreret | I 1 tilstand |
| MYSM1Myb like, SWIRM and MPN domains 1 | Ikke registreret | I 1 tilstand |
| NFIAnuclear factor I A | Ikke registreret | I 1 tilstand |
| OCLNoccludin | Ikke registreret | I 1 tilstand |
| OSGEPO-sialoglycoprotein endopeptidase | Ikke registreret | I 1 tilstand |
| PAM16presequence translocase associated motor 16 | Ikke registreret | I 1 tilstand |
| PBX1PBX homeobox 1 | Ikke registreret | I 1 tilstand |
| PCLOpiccolo presynaptic cytomatrix protein | Ikke registreret | I 1 tilstand |
| PEX2peroxisomal biogenesis factor 2 | Ikke registreret | I 1 tilstand |
| PEX5peroxisomal biogenesis factor 5 | Ikke registreret | I 1 tilstand |
| PHOX2Bpaired like homeobox 2B | Ikke registreret | I 1 tilstand |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Ikke registreret | I 1 tilstand |
| PRDX1peroxiredoxin 1 | Ikke registreret | I 1 tilstand |
| RAB23RAB23, member RAS oncogene family | Ikke registreret | I 1 tilstand |
| RALARAS like proto-oncogene A | Ikke registreret | I 1 tilstand |
| RECQL4RecQ like helicase 4 | Ikke registreret | I 1 tilstand |
| RSPO2R-spondin 2 | Ikke registreret | I 1 tilstand |
| SEPTIN9septin 9 | Ikke registreret | I 1 tilstand |
| SF3B4splicing factor 3b subunit 4 | Ikke registreret | I 1 tilstand |
| SKIC3SKI3 subunit of superkiller complex | Ikke registreret | I 1 tilstand |
| SLC6A9solute carrier family 6 member 9 | Ikke registreret | I 1 tilstand |
| SMAD4SMAD family member 4 | Ikke registreret | I 1 tilstand |
| SMOC1SPARC related modular calcium binding 1 | Ikke registreret | I 1 tilstand |
| SNRPBsmall nuclear ribonucleoprotein polypeptides B and B1 | Ikke registreret | I 1 tilstand |
| SOX5SRY-box transcription factor 5 | Ikke registreret | I 1 tilstand |
| SPRED1sprouty related EVH1 domain containing 1 | Ikke registreret | I 1 tilstand |
| SRD5A3steroid 5 alpha-reductase 3 | Ikke registreret | I 1 tilstand |
| STAMBPSTAM binding protein | Ikke registreret | I 1 tilstand |
| TALDO1transaldolase 1 | Ikke registreret | I 1 tilstand |
| TAPT1transmembrane anterior posterior transformation 1 | Ikke registreret | I 1 tilstand |
| TBCEtubulin folding cofactor E | Ikke registreret | I 1 tilstand |
| TCF20transcription factor 20 | Ikke registreret | I 1 tilstand |
| TENM3teneurin transmembrane protein 3 | Ikke registreret | I 1 tilstand |
| TFAP2Atranscription factor AP-2 alpha | Ikke registreret | I 1 tilstand |
| TFAP2Btranscription factor AP-2 beta | Ikke registreret | I 1 tilstand |
| THUMPD1THUMP domain 1 NAT10 acetyltransferase adaptor | Ikke registreret | I 1 tilstand |
| TMEM165transmembrane protein 165 | Ikke registreret | I 1 tilstand |
| TMEM216transmembrane protein 216 | Ikke registreret | I 1 tilstand |
| TPM2tropomyosin 2 | Ikke registreret | I 1 tilstand |
| TRRAPtransformation/transcription domain associated protein | Ikke registreret | I 1 tilstand |
| UNC80unc-80 subunit of NALCN channel complex | Ikke registreret | I 1 tilstand |
| WDR73WD repeat domain 73 | Ikke registreret | I 1 tilstand |
| WNK3WNK lysine deficient protein kinase 3 | Ikke registreret | I 1 tilstand |
| WNT3Wnt family member 3 | Ikke registreret | I 1 tilstand |
| WNT7AWnt family member 7A | Ikke registreret | I 1 tilstand |
| ZC4H2zinc finger C4H2-type containing | Ikke registreret | I 2 tilstande |
| ZMIZ1zinc finger MIZ-type containing 1 | 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.
Bredere træk
Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
Én test. Svar for hele livet.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger