Egenskap
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.
Sammendrag
- Også kalt
- Low set ears, Lowset ears, Low-set pinnae, Melotia
- Kroppssystem
- Abnormality of the ear
ReferansegenomGRCh38hg38
Posisjoner på gen- og variantsidene følger dette valget i denne nettleseren.
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Endringer i disse genene forårsaker sjeldne tilstander der Low-set ears forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| ACANaggrecan | Alltid | I 1 tilstand |
| ACER3alkaline ceramidase 3 | Alltid | I 1 tilstand |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Alltid | I 3 tilstander |
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Alltid | I 1 tilstand |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Alltid | I 3 tilstander |
| ALX1ALX homeobox 1 | Alltid | I 1 tilstand |
| ANKHANKH inorganic pyrophosphate transport regulator | Alltid | I 1 tilstand |
| AP3B1adaptor related protein complex 3 subunit beta 1 | Alltid | I 1 tilstand |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Alltid | I 1 tilstand |
| ASH1LASH1 like histone lysine methyltransferase | Alltid | I 1 tilstand |
| ATIC5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase | Alltid | I 2 tilstander |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Alltid | I 4 tilstander |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Alltid | I 2 tilstander |
| ATRXATRX chromatin remodeler | Alltid | I 2 tilstander |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Alltid | I 4 tilstander |
| BRF1BRF1 general transcription factor IIIB subunit | Alltid | I 2 tilstander |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Alltid | I 1 tilstand |
| CCNKcyclin K | Alltid | I 1 tilstand |
| CDC6cell division cycle 6 | Alltid | I 2 tilstander |
| CDK10cyclin dependent kinase 10 | Alltid | I 1 tilstand |
| CDT1chromatin licensing and DNA replication factor 1 | Alltid | I 2 tilstander |
| CEP55centrosomal protein 55 | Alltid | I 1 tilstand |
| CEP57centrosomal protein 57 | Alltid | I 1 tilstand |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Alltid | I 1 tilstand |
| CHST14carbohydrate sulfotransferase 14 | Alltid | I 1 tilstand |
| CHUKcomponent of inhibitor of nuclear factor kappa B kinase complex | Alltid | I 1 tilstand |
| CIROZciliated left-right organizer protein containing ZP-N domains | Alltid | I 1 tilstand |
| CNOT2CCR4-NOT transcription complex subunit 2 | Alltid | I 1 tilstand |
| COG1component of oligomeric golgi complex 1 | Alltid | I 1 tilstand |
| COG7component of oligomeric golgi complex 7 | Alltid | I 1 tilstand |
| COL13A1collagen type XIII alpha 1 chain | Alltid | I 1 tilstand |
| CPAPcentrosome assembly and centriole elongation protein | Alltid | I 1 tilstand |
| CREBBPCREB binding lysine acetyltransferase | Alltid | I 4 tilstander |
| CRNKL1crooked neck pre-mRNA splicing factor 1 | Alltid | I 1 tilstand |
| DCPSdecapping enzyme, scavenger | Alltid | I 1 tilstand |
| DDX59DEAD-box helicase 59 | Alltid | I 1 tilstand |
| DHCR77-dehydrocholesterol reductase | Alltid | I 1 tilstand |
| DHRS3dehydrogenase/reductase 3 | Alltid | I 1 tilstand |
| DHX9DExH-box helicase 9 | Alltid | I 1 tilstand |
| DMRT2doublesex and mab-3 related transcription factor 2 | Alltid | I 1 tilstand |
Vis 768 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| DNM1dynamin 1 | Alltid | I 1 tilstand |
| DONSONDNA replication fork stabilization factor DONSON | Alltid | I 2 tilstander |
| DPH1diphthamide biosynthesis 1 | Alltid | I 2 tilstander |
| DPH2diphthamide biosynthesis 2 | Alltid | I 2 tilstander |
| DRG1developmentally regulated GTP binding protein 1 | Alltid | I 1 tilstand |
| DSTdystonin | Alltid | I 2 tilstander |
| DVL1dishevelled segment polarity protein 1 | Alltid | I 3 tilstander |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Alltid | I 1 tilstand |
| EBPEBP cholestenol delta-isomerase | Alltid | I 3 tilstander |
| EP300EP300 lysine acetyltransferase | Alltid | I 3 tilstander |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Alltid | I 1 tilstand |
| ERI1exoribonuclease 1 | Alltid | I 2 tilstander |
| EXOSC2exosome component 2 | Alltid | I 1 tilstand |
| FEM1Bfem-1 homolog B | Alltid | I 1 tilstand |
| FIG4FIG4 phosphoinositide 5-phosphatase | Alltid | I 2 tilstander |
| FLNAfilamin A | Alltid | I 5 tilstander |
| FLNBfilamin B | Alltid | I 2 tilstander |
| FLVCR1FLVCR choline and heme transporter 1 | Alltid | I 1 tilstand |
| FUCA1alpha-L-fucosidase 1 | Alltid | I 1 tilstand |
| GALNT2polypeptide N-acetylgalactosaminyltransferase 2 | Alltid | I 1 tilstand |
| GINS3GINS complex subunit 3 | Alltid | I 1 tilstand |
| GLULglutamate-ammonia ligase | Alltid | I 1 tilstand |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Alltid | I 1 tilstand |
| GRIP1glutamate receptor interacting protein 1 | Alltid | I 1 tilstand |
| GTF2H5general transcription factor IIH subunit 5 | Alltid | I 1 tilstand |
| GTPBP2GTP binding protein 2 | Alltid | I 1 tilstand |
| HMX1H6 family homeobox 1 | Alltid | I 1 tilstand |
| HNRNPH1heterogeneous nuclear ribonucleoprotein H1 | Alltid | I 1 tilstand |
| HOXB1homeobox B1 | Alltid | I 1 tilstand |
| HS6ST2heparan sulfate 6-O-sulfotransferase 2 | Alltid | I 1 tilstand |
| IFT122intraflagellar transport 122 | Alltid | I 1 tilstand |
| IFT140intraflagellar transport 140 | Alltid | I 2 tilstander |
| IFT52intraflagellar transport 52 | Alltid | I 1 tilstand |
| IFT56intraflagellar transport 56 | Alltid | I 1 tilstand |
| IGBP1immunoglobulin binding protein 1 | Alltid | I 2 tilstander |
| IL6STinterleukin 6 cytokine family signal transducer | Alltid | I 1 tilstand |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Alltid | I 1 tilstand |
| INPP5Einositol polyphosphate-5-phosphatase E | Alltid | I 3 tilstander |
| INTS11integrator complex subunit 11 | Alltid | I 1 tilstand |
| INTUinturned planar cell polarity protein | Alltid | I 2 tilstander |
| IREB2iron responsive element binding protein 2 | Alltid | I 1 tilstand |
| IRX5iroquois homeobox 5 | Alltid | I 1 tilstand |
| ITCHitchy E3 ubiquitin protein ligase | Alltid | I 1 tilstand |
| JAG1jagged canonical Notch ligand 1 | Alltid | I 1 tilstand |
| KDM2Blysine demethylase 2B | Alltid | I 1 tilstand |
| KIAA0753KIAA0753 | Alltid | I 4 tilstander |
| KIF7kinesin family member 7 | Alltid | I 3 tilstander |
| LIFRLIF receptor subunit alpha | Alltid | I 1 tilstand |
| LZTR1leucine zipper like post translational regulator 1 | Alltid | I 2 tilstander |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Alltid | I 2 tilstander |
| MARS1methionyl-tRNA synthetase 1 | Alltid | I 1 tilstand |
| MARS2methionyl-tRNA synthetase 2, mitochondrial | Alltid | I 1 tilstand |
| MCM5minichromosome maintenance complex component 5 | Alltid | I 1 tilstand |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Alltid | I 1 tilstand |
| MN1MN1 proto-oncogene, transcriptional regulator | Alltid | I 1 tilstand |
| MRASmuscle RAS oncogene homolog | Alltid | I 1 tilstand |
| MRPL12mitochondrial ribosomal protein L12 | Alltid | I 1 tilstand |
| MRPS14mitochondrial ribosomal protein S14 | Alltid | I 1 tilstand |
| MRPS16mitochondrial ribosomal protein S16 | Alltid | I 1 tilstand |
| MRPS28mitochondrial ribosomal protein S28 | Alltid | I 1 tilstand |
| MYH3myosin heavy chain 3 | Alltid | I 3 tilstander |
| MYOD1myogenic differentiation 1 | Alltid | I 1 tilstand |
| NAA80N-alpha-acetyltransferase 80, NatH catalytic subunit | Alltid | I 1 tilstand |
| NALCNsodium leak channel, non-selective | Alltid | I 2 tilstander |
| NECTIN1nectin cell adhesion molecule 1 | Alltid | I 1 tilstand |
| NF1neurofibromin 1 | Alltid | I 4 tilstander |
| NOTCH2notch receptor 2 | Alltid | I 2 tilstander |
| NOTCH3notch receptor 3 | Alltid | I 2 tilstander |
| NRASNRAS proto-oncogene, GTPase | Alltid | I 1 tilstand |
| NSD1nuclear receptor binding SET domain protein 1 | Alltid | I 1 tilstand |
| NUP188nucleoporin 188 | Alltid | I 1 tilstand |
| NUP88nucleoporin 88 | Alltid | I 1 tilstand |
| OFD1OFD1 centriole and centriolar satellite protein | Alltid | I 4 tilstander |
| OGTO-linked N-acetylglucosamine (GlcNAc) transferase | Alltid | I 1 tilstand |
| ORC1origin recognition complex subunit 1 | Alltid | I 2 tilstander |
| PAICSphosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase | Alltid | I 1 tilstand |
| PAX1paired box 1 | Alltid | I 1 tilstand |
| PEX1peroxisomal biogenesis factor 1 | Alltid | I 1 tilstand |
| PEX10peroxisomal biogenesis factor 10 | Alltid | I 1 tilstand |
| PEX12peroxisomal biogenesis factor 12 | Alltid | I 1 tilstand |
| PEX26peroxisomal biogenesis factor 26 | Alltid | I 1 tilstand |
| PEX3peroxisomal biogenesis factor 3 | Alltid | I 1 tilstand |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Alltid | I 1 tilstand |
| PLOD3procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | Alltid | I 1 tilstand |
| PLVAPplasmalemma vesicle associated protein | Alltid | I 1 tilstand |
| POC1APOC1 centriolar protein A | Alltid | I 1 tilstand |
| POLR3ARNA polymerase III subunit A | Alltid | I 2 tilstander |
| PPP2R3Cprotein phosphatase 2 regulatory subunit B''gamma | Alltid | I 1 tilstand |
| PRIM1DNA primase subunit 1 | Alltid | I 1 tilstand |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Alltid | I 2 tilstander |
| PRRX1paired related homeobox 1 | Alltid | I 1 tilstand |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Alltid | I 1 tilstand |
| PTH1Rparathyroid hormone 1 receptor | Alltid | I 2 tilstander |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Alltid | I 1 tilstand |
| RAB5IFRAB5 interacting factor | Alltid | I 1 tilstand |
| RAP1GDS1Rap1 GTPase-GDP dissociation stimulator 1 | Alltid | I 1 tilstand |
| RAPSNreceptor associated protein of the synapse | Alltid | I 1 tilstand |
| RNU2-2RNA, U2 small nuclear 2 | Alltid | I 1 tilstand |
| RNU5B-1RNA, U5B small nuclear 1 | Alltid | I 1 tilstand |
| RSPRY1ring finger and SPRY domain containing 1 | Alltid | I 2 tilstander |
| SATB2SATB homeobox 2 | Alltid | I 3 tilstander |
| SCO2synthesis of cytochrome C oxidase 2 | Alltid | I 1 tilstand |
| SCYL2SCY1 like pseudokinase 2 | Alltid | I 1 tilstand |
| SH3PXD2BSH3 and PX domains 2B | Alltid | I 1 tilstand |
| SIAH1siah E3 ubiquitin protein ligase 1 | Alltid | I 1 tilstand |
| SLC12A2solute carrier family 12 member 2 | Alltid | I 1 tilstand |
| SLC37A4solute carrier family 37 member 4 | Alltid | I 1 tilstand |
| SOD1superoxide dismutase 1 | Alltid | I 1 tilstand |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Alltid | I 1 tilstand |
| SOX11SRY-box transcription factor 11 | Alltid | I 1 tilstand |
| SPOUT1SPOUT domain containing methyltransferase 1 | Alltid | I 1 tilstand |
| SPRED2sprouty related EVH1 domain containing 2 | Alltid | I 1 tilstand |
| STAC3SH3 and cysteine rich domain 3 | Alltid | I 1 tilstand |
| SUPT7LSPT7 like, STAGA complex subunit gamma | Alltid | I 1 tilstand |
| TAF4TATA-box binding protein associated factor 4 | Alltid | I 1 tilstand |
| TASP1taspase 1 | Alltid | I 1 tilstand |
| TBX15T-box transcription factor 15 | Alltid | I 2 tilstander |
| TM2D3TM2 domain containing 3 | Alltid | I 1 tilstand |
| TMCO1transmembrane and coiled-coil domains 1 | Alltid | I 1 tilstand |
| TMEM107transmembrane protein 107 | Alltid | I 1 tilstand |
| TOP2BDNA topoisomerase II beta | Alltid | I 1 tilstand |
| TRA2Btransformer 2 beta homolog | Alltid | I 1 tilstand |
| TRIP11thyroid hormone receptor interactor 11 | Alltid | I 1 tilstand |
| TUBBtubulin beta class I | Alltid | I 1 tilstand |
| UBA2ubiquitin like modifier activating enzyme 2 | Alltid | I 1 tilstand |
| UBE3Bubiquitin protein ligase E3B | Alltid | I 1 tilstand |
| WDR35WD repeat domain 35 | Alltid | I 1 tilstand |
| ZSCAN10zinc finger and SCAN domain containing 10 | Alltid | I 1 tilstand |
| ADAMTS15ADAM metallopeptidase with thrombospondin type 1 motif 15 | Svært ofte (80–99 %) | I 1 tilstand |
| ADAMTS3ADAM metallopeptidase with thrombospondin type 1 motif 3 | Svært ofte (80–99 %) | I 1 tilstand |
| ADSLadenylosuccinate lyase | Svært ofte (80–99 %) | I 2 tilstander |
| ANTXR1ANTXR cell adhesion molecule 1 | Svært ofte (80–99 %) | I 1 tilstand |
| ARVCFARVCF delta catenin family member | Svært ofte (80–99 %) | I 1 tilstand |
| ATP6V1AATPase H+ transporting V1 subunit A | Svært ofte (80–99 %) | I 2 tilstander |
| B3GALT6beta-1,3-galactosyltransferase 6 | Svært ofte (80–99 %) | I 1 tilstand |
| CCBE1collagen and calcium binding EGF domains 1 | Svært ofte (80–99 %) | I 2 tilstander |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Svært ofte (80–99 %) | I 3 tilstander |
| COMTcatechol-O-methyltransferase | Svært ofte (80–99 %) | I 1 tilstand |
| CWC27CWC27 spliceosome associated cyclophilin | Svært ofte (80–99 %) | I 2 tilstander |
| EFTUD2elongation factor Tu GTP binding domain containing 2 | Svært ofte (80–99 %) | I 2 tilstander |
| FAM20CFAM20C golgi associated secretory pathway kinase | Svært ofte (80–99 %) | I 2 tilstander |
| FAT4FAT atypical cadherin 4 | Svært ofte (80–99 %) | I 1 tilstand |
| FBN1fibrillin 1 | Svært ofte (80–99 %) | I 2 tilstander |
| FGF20fibroblast growth factor 20 | Svært ofte (80–99 %) | I 1 tilstand |
| FGFR2fibroblast growth factor receptor 2 | Svært ofte (80–99 %) | I 9 tilstander |
| GFRA1GDNF family receptor alpha 1 | Svært ofte (80–99 %) | I 1 tilstand |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Svært ofte (80–99 %) | I 2 tilstander |
| GP1BBglycoprotein Ib platelet subunit beta | Svært ofte (80–99 %) | I 1 tilstand |
| GPC6glypican 6 | Svært ofte (80–99 %) | I 1 tilstand |
| GREB1LGREB1 like retinoic acid receptor coactivator | Svært ofte (80–99 %) | I 1 tilstand |
| HDAC6histone deacetylase 6 | Svært ofte (80–99 %) | I 2 tilstander |
| HIRAhistone cell cycle regulator | Svært ofte (80–99 %) | I 1 tilstand |
| ITGA8integrin subunit alpha 8 | Svært ofte (80–99 %) | I 2 tilstander |
| JMJD1Cjumonji domain containing 1C | Svært ofte (80–99 %) | I 1 tilstand |
| KAT6Alysine acetyltransferase 6A | Svært ofte (80–99 %) | I 1 tilstand |
| KAT6Blysine acetyltransferase 6B | Svært ofte (80–99 %) | I 3 tilstander |
| KRASKRas proto-oncogene, GTPase | Svært ofte (80–99 %) | I 3 tilstander |
| LBRlamin B receptor | Svært ofte (80–99 %) | I 1 tilstand |
| LMNAlamin A/C | Svært ofte (80–99 %) | I 1 tilstand |
| MAP2K1mitogen-activated protein kinase kinase 1 | Svært ofte (80–99 %) | I 2 tilstander |
| MAP2K2mitogen-activated protein kinase kinase 2 | Svært ofte (80–99 %) | I 1 tilstand |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Svært ofte (80–99 %) | I 1 tilstand |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Svært ofte (80–99 %) | I 2 tilstander |
| POLEDNA polymerase epsilon, catalytic subunit | Svært ofte (80–99 %) | I 2 tilstander |
| PSAT1phosphoserine aminotransferase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| PTCH1patched 1 | Svært ofte (80–99 %) | I 1 tilstand |
| PTF1Apancreas associated transcription factor 1a | Svært ofte (80–99 %) | I 2 tilstander |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Svært ofte (80–99 %) | I 2 tilstander |
| RETret proto-oncogene | Svært ofte (80–99 %) | I 1 tilstand |
| RIT1Ras like without CAAX 1 | Svært ofte (80–99 %) | I 1 tilstand |
| RNU4ATACRNA, U4atac small nuclear | Svært ofte (80–99 %) | I 2 tilstander |
| RREB1ras responsive element binding protein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| SEC24CSEC24 homolog C, COPII component | Svært ofte (80–99 %) | I 1 tilstand |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Svært ofte (80–99 %) | I 1 tilstand |
| SKISKI proto-oncogene | Svært ofte (80–99 %) | I 2 tilstander |
| SLC25A24solute carrier family 25 member 24 | Svært ofte (80–99 %) | I 1 tilstand |
| TAF1TATA-box binding protein associated factor 1 | Svært ofte (80–99 %) | I 2 tilstander |
| TBX1T-box transcription factor 1 | Svært ofte (80–99 %) | I 2 tilstander |
| TCTN3tectonic family member 3 | Svært ofte (80–99 %) | I 3 tilstander |
| TMEM70transmembrane protein 70 | Svært ofte (80–99 %) | I 2 tilstander |
| TMEM94transmembrane protein 94 | Svært ofte (80–99 %) | I 1 tilstand |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Svært ofte (80–99 %) | I 1 tilstand |
| WNT9BWnt family member 9B | Svært ofte (80–99 %) | I 1 tilstand |
| ZBTB18zinc finger and BTB domain containing 18 | Svært ofte (80–99 %) | I 2 tilstander |
| ZMPSTE24zinc metallopeptidase STE24 | Svært ofte (80–99 %) | I 2 tilstander |
| ACOX1acyl-CoA oxidase 1 | Ofte (30–79 %) | I 2 tilstander |
| ADAMTS2ADAM metallopeptidase with thrombospondin type 1 motif 2 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| ALPK3alpha kinase 3 | Ofte (30–79 %) | I 1 tilstand |
| ALX4ALX homeobox 4 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| CHST3carbohydrate sulfotransferase 3 | Ofte (30–79 %) | I 1 tilstand |
| CILK1ciliogenesis associated kinase 1 | Ofte (30–79 %) | I 2 tilstander |
| COG5component of oligomeric golgi complex 5 | Ofte (30–79 %) | I 1 tilstand |
| COL11A1collagen type XI alpha 1 chain | Ofte (30–79 %) | I 3 tilstander |
| COL11A2collagen type XI alpha 2 chain | Ofte (30–79 %) | I 1 tilstand |
| COL2A1collagen type II alpha 1 chain | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| FKRPfukutin related protein | Ofte (30–79 %) | I 2 tilstander |
| FKTNfukutin | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| IFT81intraflagellar transport 81 | Ofte (30–79 %) | I 1 tilstand |
| IGF2insulin like growth factor 2 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| KIF14kinesin family member 14 | Ofte (30–79 %) | I 1 tilstand |
| KMT2Dlysine methyltransferase 2D | Ofte (30–79 %) | I 2 tilstander |
| KYNUkynureninase | Ofte (30–79 %) | I 1 tilstand |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Ofte (30–79 %) | I 2 tilstander |
| LARP7La ribonucleoprotein 7, transcriptional regulator | Ofte (30–79 %) | I 2 tilstander |
| LRP2LDL receptor related protein 2 | Ofte (30–79 %) | I 1 tilstand |
| MAB21L1mab-21 like 1 | Ofte (30–79 %) | I 2 tilstander |
| MAFMAF bZIP transcription factor | Ofte (30–79 %) | I 2 tilstander |
| MAN1B1mannosidase alpha class 1B member 1 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| MED13Lmediator complex subunit 13L | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| NFIXnuclear factor I X | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| OTUD5OTU deubiquitinase 5 | Ofte (30–79 %) | I 1 tilstand |
| OTUD6BOTU deubiquitinase 6B | Ofte (30–79 %) | I 2 tilstander |
| PACS1phosphofurin acidic cluster sorting protein 1 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| POMT2protein O-mannosyltransferase 2 | Ofte (30–79 %) | I 2 tilstander |
| PORcytochrome p450 oxidoreductase | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| STRA6signaling receptor and transporter of retinol STRA6 | Ofte (30–79 %) | I 2 tilstander |
| TAOK1TAO kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| TBC1D24TBC1 domain family member 24 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| TTC5tetratricopeptide repeat domain 5 | Ofte (30–79 %) | I 1 tilstand |
| TWIST1twist family bHLH transcription factor 1 | Ofte (30–79 %) | I 3 tilstander |
| TWIST2twist family bHLH transcription factor 2 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| XPO1exportin 1 | Ofte (30–79 %) | I 1 tilstand |
| XYLT2xylosyltransferase 2 | Ofte (30–79 %) | I 2 tilstander |
| 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 | Noen ganger (5–29 %) | I 2 tilstander |
| ADARadenosine deaminase RNA specific | Noen ganger (5–29 %) | I 1 tilstand |
| ADAT3adenosine deaminase tRNA specific 3 | Noen ganger (5–29 %) | I 1 tilstand |
| ADNPactivity dependent neuroprotector homeobox | Noen ganger (5–29 %) | I 2 tilstander |
| AFF3ALF transcription elongation factor 3 | Noen ganger (5–29 %) | I 1 tilstand |
| AHI1Abelson helper integration site 1 | Noen ganger (5–29 %) | I 2 tilstander |
| AKT1AKT serine/threonine kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ALG6ALG6 alpha-1,3-glucosyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| AMER1APC membrane recruitment protein 1 | Noen ganger (5–29 %) | I 2 tilstander |
| ARL13BARF like GTPase 13B | Noen ganger (5–29 %) | I 1 tilstand |
| ARL3ARF like GTPase 3 | Noen ganger (5–29 %) | I 2 tilstander |
| ARMC9armadillo repeat containing 9 | Noen ganger (5–29 %) | I 1 tilstand |
| ATP2B1ATPase plasma membrane Ca2+ transporting 1 | Noen ganger (5–29 %) | I 1 tilstand |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| B9D1B9 domain containing 1 | Noen ganger (5–29 %) | I 1 tilstand |
| B9D2B9 domain containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| BAP1BRCA1 associated deubiquitinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| BMPR1Abone morphogenetic protein receptor type 1A | Noen ganger (5–29 %) | I 1 tilstand |
| BRCC3BRCA1/BRCA2-containing complex subunit 3 | Noen ganger (5–29 %) | I 1 tilstand |
| BRD4bromodomain containing 4 | Noen ganger (5–29 %) | I 1 tilstand |
| CBY1chibby 1, beta catenin antagonist | Noen ganger (5–29 %) | I 1 tilstand |
| CC2D2Acoiled-coil and C2 domain containing 2A | Noen ganger (5–29 %) | I 1 tilstand |
| CCDC47coiled-coil domain containing 47 | Noen ganger (5–29 %) | I 1 tilstand |
| CCNQcyclin Q | Noen ganger (5–29 %) | I 1 tilstand |
| CDC42BPBCDC42 binding protein kinase beta | Noen ganger (5–29 %) | I 1 tilstand |
| CDCA7cell division cycle associated 7 | Noen ganger (5–29 %) | I 2 tilstander |
| CDK13cyclin dependent kinase 13 | Noen ganger (5–29 %) | I 1 tilstand |
| CEP104centrosomal protein 104 | Noen ganger (5–29 %) | I 1 tilstand |
| CEP120centrosomal protein 120 | Noen ganger (5–29 %) | I 1 tilstand |
| CEP41centrosomal protein 41 | Noen ganger (5–29 %) | I 1 tilstand |
| CHD5chromodomain helicase DNA binding protein 5 | Noen ganger (5–29 %) | I 1 tilstand |
| CHMP1Acharged multivesicular body protein 1A | Noen ganger (5–29 %) | I 1 tilstand |
| CHSY1chondroitin sulfate synthase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CLCN3Cl-/H+ antiporter 3 | Noen ganger (5–29 %) | I 1 tilstand |
| CNOT1CCR4-NOT transcription complex subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CNOT3CCR4-NOT transcription complex subunit 3 | Noen ganger (5–29 %) | I 1 tilstand |
| COG3component of oligomeric golgi complex 3 | Noen ganger (5–29 %) | I 1 tilstand |
| COG8component of oligomeric golgi complex 8 | Noen ganger (5–29 %) | I 1 tilstand |
| COL4A1collagen type IV alpha 1 chain | Noen ganger (5–29 %) | I 1 tilstand |
| COLEC10collectin subfamily member 10 | Noen ganger (5–29 %) | I 1 tilstand |
| COLEC11collectin subfamily member 11 | Noen ganger (5–29 %) | I 1 tilstand |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Noen ganger (5–29 %) | I 2 tilstander |
| CRELD1CRELD disulfide isomerase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CRPPACDP-L-ribitol pyrophosphorylase A | Noen ganger (5–29 %) | I 2 tilstander |
| CSPP1centrosome and spindle pole associated protein 1 | Noen ganger (5–29 %) | I 2 tilstander |
| CTCFCCCTC-binding factor | Noen ganger (5–29 %) | I 1 tilstand |
| CTNNB1catenin beta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CUX1cut like homeobox 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DAG1dystroglycan 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DDB1damage specific DNA binding protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DDX3XDEAD-box helicase 3 X-linked | Noen ganger (5–29 %) | I 1 tilstand |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Noen ganger (5–29 %) | I 1 tilstand |
| DHPSdeoxyhypusine synthase | Noen ganger (5–29 %) | I 1 tilstand |
| DHX30DExH-box helicase 30 | Noen ganger (5–29 %) | I 1 tilstand |
| DNMT3BDNA methyltransferase 3 beta | Noen ganger (5–29 %) | I 2 tilstander |
| DVL3dishevelled segment polarity protein 3 | Noen ganger (5–29 %) | I 2 tilstander |
| EDEM3ER degradation enhancing alpha-mannosidase like protein 3 | Noen ganger (5–29 %) | I 1 tilstand |
| ELNelastin | Noen ganger (5–29 %) | I 1 tilstand |
| EPG5ectopic P-granules 5 autophagy tethering factor | Noen ganger (5–29 %) | I 1 tilstand |
| EXOC7exocyst complex component 7 | Noen ganger (5–29 %) | I 1 tilstand |
| FANCD2FA complementation group D2 | Noen ganger (5–29 %) | I 1 tilstand |
| FBLN5fibulin 5 | Noen ganger (5–29 %) | I 1 tilstand |
| FBXL4F-box and leucine rich repeat protein 4 | Noen ganger (5–29 %) | I 1 tilstand |
| FBXO11F-box protein 11 | Noen ganger (5–29 %) | I 1 tilstand |
| FGF10fibroblast growth factor 10 | Noen ganger (5–29 %) | I 1 tilstand |
| FGFR3fibroblast growth factor receptor 3 | Noen ganger (5–29 %) | I 2 tilstander |
| FOXE1forkhead box E1 | Noen ganger (5–29 %) | I 1 tilstand |
| FOXF1forkhead box F1 | Noen ganger (5–29 %) | I 1 tilstand |
| FOXP2forkhead box P2 | Noen ganger (5–29 %) | I 1 tilstand |
| FREM2FRAS1 related extracellular matrix 2 | Noen ganger (5–29 %) | I 1 tilstand |
| FRYLFRY like transcription coactivator | Noen ganger (5–29 %) | I 1 tilstand |
| FZD2frizzled class receptor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| GABRA3gamma-aminobutyric acid type A receptor subunit alpha3 | Noen ganger (5–29 %) | I 1 tilstand |
| GAD1glutamate decarboxylase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GLB1galactosidase beta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GNB2G protein subunit beta 2 | Noen ganger (5–29 %) | I 1 tilstand |
| GTF3C3general transcription factor IIIC subunit 3 | Noen ganger (5–29 %) | I 1 tilstand |
| H3-3AH3.3 histone A | Noen ganger (5–29 %) | I 1 tilstand |
| H4C5H4 clustered histone 5 | Noen ganger (5–29 %) | I 1 tilstand |
| HELLShelicase, lymphoid specific | Noen ganger (5–29 %) | I 1 tilstand |
| IFIH1interferon induced with helicase C domain 1 | Noen ganger (5–29 %) | I 1 tilstand |
| IFT74intraflagellar transport 74 | Noen ganger (5–29 %) | I 1 tilstand |
| INPPL1inositol polyphosphate phosphatase like 1 | Noen ganger (5–29 %) | I 1 tilstand |
| INSRinsulin receptor | Noen ganger (5–29 %) | I 2 tilstander |
| IPO8importin 8 | Noen ganger (5–29 %) | I 1 tilstand |
| JARID2jumonji and AT-rich interaction domain containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| KATNIPkatanin interacting protein | Noen ganger (5–29 %) | I 1 tilstand |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNJ2potassium inwardly rectifying channel subfamily J member 2 | Noen ganger (5–29 %) | I 2 tilstander |
| KCNJ5potassium inwardly rectifying channel subfamily J member 5 | Noen ganger (5–29 %) | I 1 tilstand |
| KCTD1potassium channel tetramerization domain containing 1 | Noen ganger (5–29 %) | I 1 tilstand |
| KDM4Blysine demethylase 4B | Noen ganger (5–29 %) | I 1 tilstand |
| KDM5Alysine demethylase 5A | Noen ganger (5–29 %) | I 1 tilstand |
| KIAA0586KIAA0586 | Noen ganger (5–29 %) | I 3 tilstander |
| KIF15kinesin family member 15 | Noen ganger (5–29 %) | I 1 tilstand |
| KIF26Akinesin family member 26A | Noen ganger (5–29 %) | I 1 tilstand |
| KLHL40kelch like family member 40 | Noen ganger (5–29 %) | I 1 tilstand |
| KLHL41kelch like family member 41 | Noen ganger (5–29 %) | I 2 tilstander |
| KMT2Alysine methyltransferase 2A | Noen ganger (5–29 %) | I 2 tilstander |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| LMOD3leiomodin 3 | Noen ganger (5–29 %) | I 1 tilstand |
| LMX1BLIM homeobox transcription factor 1 beta | Noen ganger (5–29 %) | I 1 tilstand |
| LRPPRCleucine rich pentatricopeptide repeat containing | Noen ganger (5–29 %) | I 1 tilstand |
| LRRC7leucine rich repeat containing 7 | Noen ganger (5–29 %) | I 1 tilstand |
| LSM11LSM11, U7 small nuclear RNA associated | Noen ganger (5–29 %) | I 1 tilstand |
| MACF1microtubule actin crosslinking factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MADDMAP kinase activating death domain | Noen ganger (5–29 %) | I 1 tilstand |
| MARK2microtubule affinity regulating kinase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MASP1MBL associated serine protease 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MAU2MAU2 sister chromatid cohesion factor | Noen ganger (5–29 %) | I 1 tilstand |
| MED25mediator complex subunit 25 | Noen ganger (5–29 %) | I 2 tilstander |
| MED27mediator complex subunit 27 | Noen ganger (5–29 %) | I 1 tilstand |
| MEIS2Meis homeobox 2 | Noen ganger (5–29 %) | I 2 tilstander |
| MESDmesoderm development LRP chaperone | Noen ganger (5–29 %) | I 1 tilstand |
| MID1midline 1 | Noen ganger (5–29 %) | I 2 tilstander |
| MINPP1multiple inositol-polyphosphate phosphatase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MKS1MKS transition zone complex subunit 1 | Noen ganger (5–29 %) | I 2 tilstander |
| MSL2MSL complex subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MTHFRmethylenetetrahydrofolate reductase | Noen ganger (5–29 %) | I 1 tilstand |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Noen ganger (5–29 %) | I 3 tilstander |
| NAA20N-alpha-acetyltransferase 20, NatB catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| NARS1asparaginyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NEBnebulin | Noen ganger (5–29 %) | I 3 tilstander |
| NEK9NIMA related kinase 9 | Noen ganger (5–29 %) | I 1 tilstand |
| NGLY1N-glycanase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NSRP1nuclear speckle splicing regulatory protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NTNG2netrin G2 | Noen ganger (5–29 %) | I 1 tilstand |
| PAX7paired box 7 | Noen ganger (5–29 %) | I 1 tilstand |
| PCDHGC4protocadherin gamma subfamily C, 4 | Noen ganger (5–29 %) | I 1 tilstand |
| PDE6Dphosphodiesterase 6D | Noen ganger (5–29 %) | I 1 tilstand |
| PDZD8PDZ domain containing 8 | Noen ganger (5–29 %) | I 1 tilstand |
| PIBF1progesterone immunomodulatory binding factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Noen ganger (5–29 %) | I 1 tilstand |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Noen ganger (5–29 %) | I 2 tilstander |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Noen ganger (5–29 %) | I 1 tilstand |
| PLAAT3phospholipase A and acyltransferase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| PLCB4phospholipase C beta 4 | Noen ganger (5–29 %) | I 1 tilstand |
| PLCH1phospholipase C eta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PLXND1plexin D1 | Noen ganger (5–29 %) | I 1 tilstand |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Noen ganger (5–29 %) | I 1 tilstand |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Noen ganger (5–29 %) | I 1 tilstand |
| POMKprotein O-mannose kinase | Noen ganger (5–29 %) | I 1 tilstand |
| PORCNporcupine O-acyltransferase | Noen ganger (5–29 %) | I 2 tilstander |
| PPP1R12Aprotein phosphatase 1 regulatory subunit 12A | Noen ganger (5–29 %) | I 1 tilstand |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Noen ganger (5–29 %) | I 1 tilstand |
| PRKDCprotein kinase, DNA-activated, catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| PRUNE1prune exopolyphosphatase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PTENphosphatase and tensin homolog | Noen ganger (5–29 %) | I 1 tilstand |
| PURApurine rich element binding protein A | Noen ganger (5–29 %) | I 1 tilstand |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| RAC1Rac family small GTPase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| RALGAPA1Ral GTPase activating protein catalytic subunit alpha 1 | Noen ganger (5–29 %) | I 1 tilstand |
| REREarginine-glutamic acid dipeptide repeats | Noen ganger (5–29 %) | I 1 tilstand |
| RNASEH2Aribonuclease H2 subunit A | Noen ganger (5–29 %) | I 2 tilstander |
| RNASEH2Bribonuclease H2 subunit B | Noen ganger (5–29 %) | I 1 tilstand |
| RNASEH2Cribonuclease H2 subunit C | Noen ganger (5–29 %) | I 1 tilstand |
| RNU4-2RNA, U4 small nuclear 2 | Noen ganger (5–29 %) | I 1 tilstand |
| RNU7-1RNA, U7 small nuclear 1 | Noen ganger (5–29 %) | I 1 tilstand |
| RPGRIP1LRPGRIP1 like | Noen ganger (5–29 %) | I 1 tilstand |
| RPL10ribosomal protein L10 | Noen ganger (5–29 %) | I 1 tilstand |
| RPS26ribosomal protein S26 | Noen ganger (5–29 %) | I 2 tilstander |
| RRAGCRas related GTP binding C | Noen ganger (5–29 %) | I 1 tilstand |
| RXYLT1ribitol xylosyltransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Noen ganger (5–29 %) | I 1 tilstand |
| SETD1ASET domain containing 1A, histone lysine methyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| SGSM3small G protein signaling modulator 3 | Noen ganger (5–29 %) | I 1 tilstand |
| SIM1SIM bHLH transcription factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC1A4solute carrier family 1 member 4 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC26A2solute carrier family 26 member 2 | Noen ganger (5–29 %) | I 2 tilstander |
| SLC39A8solute carrier family 39 member 8 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC4A10solute carrier family 4 member 10 | Noen ganger (5–29 %) | I 1 tilstand |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SMC5structural maintenance of chromosomes 5 | Noen ganger (5–29 %) | I 1 tilstand |
| SMG8SMG8 nonsense mediated mRNA decay factor | Noen ganger (5–29 %) | I 1 tilstand |
| SMPD1sphingomyelin phosphodiesterase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SMSspermine synthase | Noen ganger (5–29 %) | I 1 tilstand |
| SONSON DNA and RNA binding protein | Noen ganger (5–29 %) | I 2 tilstander |
| SOX4SRY-box transcription factor 4 | Noen ganger (5–29 %) | I 1 tilstand |
| SOX6SRY-box transcription factor 6 | Noen ganger (5–29 %) | I 1 tilstand |
| SPARTspartin | Noen ganger (5–29 %) | I 1 tilstand |
| SPENspen family transcriptional repressor | Noen ganger (5–29 %) | I 1 tilstand |
| SPINT2serine peptidase inhibitor, Kunitz type 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SRRM2serine/arginine repetitive matrix 2 | Noen ganger (5–29 %) | I 1 tilstand |
| STAG1STAG1 cohesin complex component | Noen ganger (5–29 %) | I 1 tilstand |
| STAG2STAG2 cohesin complex component | Noen ganger (5–29 %) | I 2 tilstander |
| STXBP1syntaxin binding protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SUFUSUFU negative regulator of hedgehog signaling | Noen ganger (5–29 %) | I 1 tilstand |
| SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit | Noen ganger (5–29 %) | I 1 tilstand |
| TBCKTBC1 domain containing kinase | Noen ganger (5–29 %) | I 1 tilstand |
| TCTN1tectonic family member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TCTN2tectonic family member 2 | Noen ganger (5–29 %) | I 2 tilstander |
| TEFMtranscription elongation factor, mitochondrial | Noen ganger (5–29 %) | I 1 tilstand |
| TMEM218transmembrane protein 218 | Noen ganger (5–29 %) | I 1 tilstand |
| TMEM237transmembrane protein 237 | Noen ganger (5–29 %) | I 2 tilstander |
| TMEM260transmembrane protein 260 | Noen ganger (5–29 %) | I 1 tilstand |
| TMEM67transmembrane protein 67 | Noen ganger (5–29 %) | I 2 tilstander |
| TOE1target of EGR1, exonuclease | Noen ganger (5–29 %) | I 1 tilstand |
| TPM3tropomyosin 3 | Noen ganger (5–29 %) | I 1 tilstand |
| TRAF7TNF receptor associated factor 7 | Noen ganger (5–29 %) | I 1 tilstand |
| TREX1three prime repair exonuclease 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TRIP12thyroid hormone receptor interactor 12 | Noen ganger (5–29 %) | I 1 tilstand |
| TRIP13thyroid hormone receptor interactor 13 | Noen ganger (5–29 %) | I 1 tilstand |
| TRPV6transient receptor potential cation channel subfamily V member 6 | Noen ganger (5–29 %) | I 1 tilstand |
| TSPEARthrombospondin type laminin G domain and EAR repeats | Noen ganger (5–29 %) | I 1 tilstand |
| TTI1TELO2 interacting protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TUBB3tubulin beta 3 class III | Noen ganger (5–29 %) | I 1 tilstand |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Noen ganger (5–29 %) | I 1 tilstand |
| UHRF1ubiquitin like with PHD and ring finger domains 1 | Noen ganger (5–29 %) | I 1 tilstand |
| UPF3BUPF3B regulator of nonsense mediated mRNA decay | Noen ganger (5–29 %) | I 1 tilstand |
| USP7ubiquitin specific peptidase 7 | Noen ganger (5–29 %) | I 1 tilstand |
| USP9Xubiquitin specific peptidase 9 X-linked | Noen ganger (5–29 %) | I 2 tilstander |
| VANGL2VANGL planar cell polarity protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| VIPAS39VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog | Noen ganger (5–29 %) | I 2 tilstander |
| VPS33BVPS33B late endosome and lysosome associated | Noen ganger (5–29 %) | I 2 tilstander |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Noen ganger (5–29 %) | I 1 tilstand |
| WBP11WW domain binding protein 11 | Noen ganger (5–29 %) | I 1 tilstand |
| WNT7BWnt family member 7B | Noen ganger (5–29 %) | I 1 tilstand |
| YY1YY1 transcription factor | Noen ganger (5–29 %) | I 2 tilstander |
| ZBTB24zinc finger and BTB domain containing 24 | Noen ganger (5–29 %) | I 2 tilstander |
| ZDHHC9zDHHC palmitoyltransferase 9 | Noen ganger (5–29 %) | I 1 tilstand |
| ZFXzinc finger protein X-linked | Noen ganger (5–29 %) | I 1 tilstand |
| ZIC3Zic family zinc finger 3 | Noen ganger (5–29 %) | I 1 tilstand |
| ZMYM2zinc finger MYM-type containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ZNF148zinc finger protein 148 | Noen ganger (5–29 %) | I 1 tilstand |
| ZNF292zinc finger protein 292 | Noen ganger (5–29 %) | I 1 tilstand |
| ZNF462zinc finger protein 462 | Noen ganger (5–29 %) | I 2 tilstander |
| ZNF699zinc finger protein 699 | Noen ganger (5–29 %) | I 1 tilstand |
| ZSWIM6zinc finger SWIM-type containing 6 | Noen ganger (5–29 %) | I 1 tilstand |
| ADA2adenosine deaminase 2 | Sjelden (1–4%) | I 1 tilstand |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Sjelden (1–4%) | I 1 tilstand |
| DZIP1LDAZ interacting zinc finger protein 1 like | Sjelden (1–4%) | I 1 tilstand |
| GATA1GATA binding protein 1 | Sjelden (1–4%) | I 1 tilstand |
| GJA5gap junction protein alpha 5 | Sjelden (1–4%) | I 1 tilstand |
| GJA8gap junction protein alpha 8 | Sjelden (1–4%) | I 1 tilstand |
| MMACHCmetabolism of cobalamin associated C | Sjelden (1–4%) | I 2 tilstander |
| PKHD1PKHD1 ciliary IPT domain containing fibrocystin/polyductin | Sjelden (1–4%) | I 1 tilstand |
| RPL11ribosomal protein L11 | Sjelden (1–4%) | I 1 tilstand |
| RPL15ribosomal protein L15 | Sjelden (1–4%) | I 1 tilstand |
| RPL18ribosomal protein L18 | Sjelden (1–4%) | I 1 tilstand |
| RPL26ribosomal protein L26 | Sjelden (1–4%) | I 1 tilstand |
| RPL27ribosomal protein L27 | Sjelden (1–4%) | I 1 tilstand |
| RPL31ribosomal protein L31 | Sjelden (1–4%) | I 1 tilstand |
| RPL35ribosomal protein L35 | Sjelden (1–4%) | I 1 tilstand |
| RPL35Aribosomal protein L35a | Sjelden (1–4%) | I 2 tilstander |
| RPL5ribosomal protein L5 | Sjelden (1–4%) | I 1 tilstand |
| RPL8ribosomal protein L8 | Sjelden (1–4%) | I 1 tilstand |
| RPL9ribosomal protein L9 | Sjelden (1–4%) | I 1 tilstand |
| RPS10ribosomal protein S10 | Sjelden (1–4%) | I 1 tilstand |
| RPS15Aribosomal protein S15a | Sjelden (1–4%) | I 1 tilstand |
| RPS17ribosomal protein S17 | Sjelden (1–4%) | I 1 tilstand |
| RPS19ribosomal protein S19 | Sjelden (1–4%) | I 1 tilstand |
| RPS20ribosomal protein S20 | Sjelden (1–4%) | I 1 tilstand |
| RPS24ribosomal protein S24 | Sjelden (1–4%) | I 1 tilstand |
| RPS27ribosomal protein S27 | Sjelden (1–4%) | I 1 tilstand |
| RPS28ribosomal protein S28 | Sjelden (1–4%) | I 1 tilstand |
| RPS29ribosomal protein S29 | Sjelden (1–4%) | I 1 tilstand |
| RPS7ribosomal protein S7 | Sjelden (1–4%) | I 1 tilstand |
| TMEM147transmembrane protein 147 | Sjelden (1–4%) | I 1 tilstand |
| TSR2TSR2 ribosome maturation factor | Sjelden (1–4%) | I 1 tilstand |
| ACP5acid phosphatase 5, tartrate resistant | Ikke registrert | I 1 tilstand |
| ACTBactin beta | Ikke registrert | I 1 tilstand |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Ikke registrert | I 1 tilstand |
| ALX3ALX homeobox 3 | Ikke registrert | I 1 tilstand |
| ARID1BAT-rich interaction domain 1B | Ikke registrert | I 1 tilstand |
| ARXaristaless related homeobox | Ikke registrert | I 1 tilstand |
| ATN1atrophin 1 | Ikke registrert | I 1 tilstand |
| ATRATR checkpoint kinase | Ikke registrert | I 1 tilstand |
| B3GLCTbeta 3-glucosyltransferase | Ikke registrert | I 1 tilstand |
| BCORBCL6 corepressor | Ikke registrert | I 1 tilstand |
| BLTP1bridge-like lipid transfer protein family member 1 | Ikke registrert | I 1 tilstand |
| BMP4bone morphogenetic protein 4 | Ikke registrert | I 1 tilstand |
| BMPERBMP binding endothelial regulator | Ikke registrert | I 1 tilstand |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Ikke registrert | I 1 tilstand |
| C12orf57chromosome 12 open reading frame 57 | Ikke registrert | I 1 tilstand |
| C2CD3C2 domain containing 3 centriole elongation regulator | Ikke registrert | I 1 tilstand |
| CAMK2Gcalcium/calmodulin dependent protein kinase II gamma | Ikke registrert | I 1 tilstand |
| CAMTA1calmodulin binding transcription activator 1 | Ikke registrert | I 1 tilstand |
| CBLCbl proto-oncogene | Ikke registrert | I 1 tilstand |
| CCN2cellular communication network factor 2 | Ikke registrert | I 1 tilstand |
| CD96CD96 molecule | Ikke registrert | I 1 tilstand |
| CDC42cell division cycle 42 | Ikke registrert | I 1 tilstand |
| CDH11cadherin 11 | Ikke registrert | I 1 tilstand |
| CENPFcentromere protein F | Ikke registrert | I 1 tilstand |
| CHD3chromodomain helicase DNA binding protein 3 | Ikke registrert | I 1 tilstand |
| CHD4chromodomain helicase DNA binding protein 4 | Ikke registrert | I 1 tilstand |
| CHRNA1cholinergic receptor nicotinic alpha 1 subunit | Ikke registrert | I 1 tilstand |
| CHRNDcholinergic receptor nicotinic delta subunit | Ikke registrert | I 1 tilstand |
| CNTNAP1contactin associated protein 1 | Ikke registrert | I 1 tilstand |
| CPT2carnitine palmitoyltransferase 2 | Ikke registrert | I 1 tilstand |
| CRLF1cytokine receptor like factor 1 | Ikke registrert | I 1 tilstand |
| DDR2discoidin domain receptor tyrosine kinase 2 | Ikke registrert | I 1 tilstand |
| DHODHdihydroorotate dehydrogenase (quinone) | Ikke registrert | I 1 tilstand |
| DOCK6dedicator of cytokinesis 6 | Ikke registrert | I 1 tilstand |
| EDNRAendothelin receptor type A | Ikke registrert | I 1 tilstand |
| EEDembryonic ectoderm development | Ikke registrert | I 1 tilstand |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Ikke registrert | I 1 tilstand |
| EIF4A3eukaryotic translation initiation factor 4A3 | Ikke registrert | I 1 tilstand |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Ikke registrert | I 1 tilstand |
| EXOSC9exosome component 9 | Ikke registrert | I 1 tilstand |
| EYA1EYA transcriptional coactivator and phosphatase 1 | Ikke registrert | I 1 tilstand |
| FHL1four and a half LIM domains 1 | Ikke registrert | I 1 tilstand |
| FRAS1Fraser extracellular matrix complex subunit 1 | Ikke registrert | I 1 tilstand |
| FRMD4AFERM domain containing 4A | Ikke registrert | I 1 tilstand |
| GBA1glucosylceramidase beta 1 | Ikke registrert | I 1 tilstand |
| GJA1gap junction protein alpha 1 | Ikke registrert | I 1 tilstand |
| GKglycerol kinase | Ikke registrert | I 1 tilstand |
| GLE1GLE1 RNA export mediator | Ikke registrert | I 1 tilstand |
| GLIS3GLIS family zinc finger 3 | Ikke registrert | I 1 tilstand |
| GNAI3G protein subunit alpha i3 | Ikke registrert | I 1 tilstand |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Ikke registrert | I 1 tilstand |
| HRASHRas proto-oncogene, GTPase | Ikke registrert | I 1 tilstand |
| IGF1Rinsulin like growth factor 1 receptor | Ikke registrert | I 1 tilstand |
| KIFBPkinesin family binding protein | Ikke registrert | I 1 tilstand |
| LMBRD1LMBR1 domain containing 1 | Ikke registrert | I 1 tilstand |
| LRRC8Aleucine rich repeat containing 8 VRAC subunit A | Ikke registrert | I 1 tilstand |
| MAGEL2MAGE family member L2 | Ikke registrert | I 1 tilstand |
| MBD5methyl-CpG binding domain protein 5 | Ikke registrert | I 1 tilstand |
| MECP2methyl-CpG binding protein 2 | Ikke registrert | I 1 tilstand |
| MEF2Cmyocyte enhancer factor 2C | Ikke registrert | I 1 tilstand |
| MRPS22mitochondrial ribosomal protein S22 | Ikke registrert | I 1 tilstand |
| MVKmevalonate kinase | Ikke registrert | I 1 tilstand |
| MYSM1Myb like, SWIRM and MPN domains 1 | Ikke registrert | I 1 tilstand |
| NFIAnuclear factor I A | Ikke registrert | I 1 tilstand |
| OCLNoccludin | Ikke registrert | I 1 tilstand |
| OSGEPO-sialoglycoprotein endopeptidase | Ikke registrert | I 1 tilstand |
| PAM16presequence translocase associated motor 16 | Ikke registrert | I 1 tilstand |
| PBX1PBX homeobox 1 | Ikke registrert | I 1 tilstand |
| PCLOpiccolo presynaptic cytomatrix protein | Ikke registrert | I 1 tilstand |
| PEX2peroxisomal biogenesis factor 2 | Ikke registrert | I 1 tilstand |
| PEX5peroxisomal biogenesis factor 5 | Ikke registrert | I 1 tilstand |
| PHOX2Bpaired like homeobox 2B | Ikke registrert | I 1 tilstand |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Ikke registrert | I 1 tilstand |
| PRDX1peroxiredoxin 1 | Ikke registrert | I 1 tilstand |
| RAB23RAB23, member RAS oncogene family | Ikke registrert | I 1 tilstand |
| RALARAS like proto-oncogene A | Ikke registrert | I 1 tilstand |
| RECQL4RecQ like helicase 4 | Ikke registrert | I 1 tilstand |
| RSPO2R-spondin 2 | Ikke registrert | I 1 tilstand |
| SEPTIN9septin 9 | Ikke registrert | I 1 tilstand |
| SF3B4splicing factor 3b subunit 4 | Ikke registrert | I 1 tilstand |
| SKIC3SKI3 subunit of superkiller complex | Ikke registrert | I 1 tilstand |
| SLC6A9solute carrier family 6 member 9 | Ikke registrert | I 1 tilstand |
| SMAD4SMAD family member 4 | Ikke registrert | I 1 tilstand |
| SMOC1SPARC related modular calcium binding 1 | Ikke registrert | I 1 tilstand |
| SNRPBsmall nuclear ribonucleoprotein polypeptides B and B1 | Ikke registrert | I 1 tilstand |
| SOX5SRY-box transcription factor 5 | Ikke registrert | I 1 tilstand |
| SPRED1sprouty related EVH1 domain containing 1 | Ikke registrert | I 1 tilstand |
| SRD5A3steroid 5 alpha-reductase 3 | Ikke registrert | I 1 tilstand |
| STAMBPSTAM binding protein | Ikke registrert | I 1 tilstand |
| TALDO1transaldolase 1 | Ikke registrert | I 1 tilstand |
| TAPT1transmembrane anterior posterior transformation 1 | Ikke registrert | I 1 tilstand |
| TBCEtubulin folding cofactor E | Ikke registrert | I 1 tilstand |
| TCF20transcription factor 20 | Ikke registrert | I 1 tilstand |
| TENM3teneurin transmembrane protein 3 | Ikke registrert | I 1 tilstand |
| TFAP2Atranscription factor AP-2 alpha | Ikke registrert | I 1 tilstand |
| TFAP2Btranscription factor AP-2 beta | Ikke registrert | I 1 tilstand |
| THUMPD1THUMP domain 1 NAT10 acetyltransferase adaptor | Ikke registrert | I 1 tilstand |
| TMEM165transmembrane protein 165 | Ikke registrert | I 1 tilstand |
| TMEM216transmembrane protein 216 | Ikke registrert | I 1 tilstand |
| TPM2tropomyosin 2 | Ikke registrert | I 1 tilstand |
| TRRAPtransformation/transcription domain associated protein | Ikke registrert | I 1 tilstand |
| UNC80unc-80 subunit of NALCN channel complex | Ikke registrert | I 1 tilstand |
| WDR73WD repeat domain 73 | Ikke registrert | I 1 tilstand |
| WNK3WNK lysine deficient protein kinase 3 | Ikke registrert | I 1 tilstand |
| WNT3Wnt family member 3 | Ikke registrert | I 1 tilstand |
| WNT7AWnt family member 7A | Ikke registrert | I 1 tilstand |
| ZC4H2zinc finger C4H2-type containing | Ikke registrert | I 2 tilstander |
| ZMIZ1zinc finger MIZ-type containing 1 | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
Bredere egenskaper
Slik er informasjonen samlet
- Human Phenotype Ontology, versjon 2026-09-01: egenskapen, navnene på den, definisjonen og genene som er knyttet til den. Les mer på hpo.jax.org.
- Datautgave 2026.10.16-c6eea6bf.
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