Træk
Wide-set eyes
Klinisk navn: Hypertelorism
Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).
Resumé
- Også kaldet
- Widely spaced eyes, Excessive orbital separation, Increased distance between eye sockets, Increased distance between eyes, Increased interpupillary distance, Ocular hypertelorism, Widened interpupillary distance
- Kropssystem
- Abnormality of the eye
ReferencegenomGRCh38hg38
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Ændringer i disse gener forårsager sjældne tilstande, hvor Wide-set eyes 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 |
|---|---|---|
| ADAMTS3ADAM metallopeptidase with thrombospondin type 1 motif 3 | Altid | I 2 tilstande |
| ADKadenosine kinase | Altid | I 1 tilstand |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Altid | I 1 tilstand |
| ALDH6A1aldehyde dehydrogenase 6 family member A1 | Altid | I 1 tilstand |
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Altid | I 1 tilstand |
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Altid | I 2 tilstande |
| ALX1ALX homeobox 1 | Altid | I 2 tilstande |
| ALX4ALX homeobox 4 | Altid | I 3 tilstande |
| AMOTL1angiomotin like 1 | Altid | I 1 tilstand |
| ANKHANKH inorganic pyrophosphate transport regulator | Altid | I 2 tilstande |
| ANTXR1ANTXR cell adhesion molecule 1 | Altid | I 2 tilstande |
| ARID2AT-rich interaction domain 2 | Altid | I 1 tilstand |
| ASXL2ASXL transcriptional regulator 2 | Altid | I 1 tilstand |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Altid | I 3 tilstande |
| ATRXATRX chromatin remodeler | Altid | I 3 tilstande |
| AXIN1axin 1 | Altid | I 1 tilstand |
| BBS7Bardet-Biedl syndrome 7 | Altid | I 2 tilstande |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Altid | I 7 tilstande |
| BRD4bromodomain containing 4 | Altid | I 1 tilstand |
| CCBE1collagen and calcium binding EGF domains 1 | Altid | I 2 tilstande |
| CCDC22CCC complex scaffolding subunit CCDC22 | Altid | I 2 tilstande |
| CCNKcyclin K | Altid | I 1 tilstand |
| CDH1cadherin 1 | Altid | I 2 tilstande |
| CDH11cadherin 11 | Altid | I 3 tilstande |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Altid | I 1 tilstand |
| CHST14carbohydrate sulfotransferase 14 | Altid | I 2 tilstande |
| COLEC11collectin subfamily member 11 | Altid | I 2 tilstande |
| CPAPcentrosome assembly and centriole elongation protein | Altid | I 1 tilstand |
| CREBBPCREB binding lysine acetyltransferase | Altid | I 3 tilstande |
| DAND5DAN domain BMP antagonist family member 5 | Altid | I 1 tilstand |
| DDX59DEAD-box helicase 59 | Altid | I 2 tilstande |
| DHCR77-dehydrocholesterol reductase | Altid | I 2 tilstande |
| DHX9DExH-box helicase 9 | Altid | I 1 tilstand |
| DICER1dicer 1, ribonuclease III | Altid | I 1 tilstand |
| DMRT2doublesex and mab-3 related transcription factor 2 | Altid | I 1 tilstand |
| DNMT3ADNA methyltransferase 3 alpha | Altid | I 2 tilstande |
| DPH1diphthamide biosynthesis 1 | Altid | I 2 tilstande |
| EEDembryonic ectoderm development | Altid | I 1 tilstand |
| EFNB1ephrin B1 | Altid | I 2 tilstande |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Altid | I 1 tilstand |
Vis 846 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| EP300EP300 lysine acetyltransferase | Altid | I 2 tilstande |
| ERFETS2 repressor factor | Altid | I 2 tilstande |
| FAT4FAT atypical cadherin 4 | Altid | I 4 tilstande |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Altid | I 2 tilstande |
| FGFR2fibroblast growth factor receptor 2 | Altid | I 17 tilstande |
| FILIP1filamin A interacting protein 1 | Altid | I 1 tilstand |
| FLNAfilamin A | Altid | I 13 tilstande |
| FLNBfilamin B | Altid | I 5 tilstande |
| FOXE1forkhead box E1 | Altid | I 1 tilstand |
| FUCA1alpha-L-fucosidase 1 | Altid | I 1 tilstand |
| FZD2frizzled class receptor 2 | Altid | I 3 tilstande |
| GJA1gap junction protein alpha 1 | Altid | I 3 tilstande |
| GNSglucosamine (N-acetyl)-6-sulfatase | Altid | I 1 tilstand |
| GPC4glypican 4 | Altid | I 3 tilstande |
| GTF3C3general transcription factor IIIC subunit 3 | Altid | I 1 tilstand |
| H4C11H4 clustered histone 11 | Altid | I 1 tilstand |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Altid | I 2 tilstande |
| HIVEP2HIVEP zinc finger 2 | Altid | I 1 tilstand |
| HYAL2hyaluronidase 2 | Altid | I 1 tilstand |
| IDUAalpha-L-iduronidase | Altid | I 1 tilstand |
| IFT140intraflagellar transport 140 | Altid | I 1 tilstand |
| IL6STinterleukin 6 cytokine family signal transducer | Altid | I 1 tilstand |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Altid | I 1 tilstand |
| INTS11integrator complex subunit 11 | 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 |
| JKAMPJNK1/MAPK8 associated membrane protein | Altid | I 1 tilstand |
| KCNJ2potassium inwardly rectifying channel subfamily J member 2 | Altid | I 2 tilstande |
| KCNK3potassium two pore domain channel subfamily K member 3 | Altid | I 1 tilstand |
| KDM6Blysine demethylase 6B | Altid | I 1 tilstand |
| KIAA0753KIAA0753 | Altid | I 2 tilstande |
| KIF7kinesin family member 7 | Altid | I 5 tilstande |
| KRASKRas proto-oncogene, GTPase | Altid | I 4 tilstande |
| LBRlamin B receptor | Altid | I 2 tilstande |
| LTBP4latent transforming growth factor beta binding protein 4 | Altid | I 1 tilstand |
| LYNLYN proto-oncogene, Src family tyrosine kinase | Altid | I 1 tilstand |
| MAN2B2mannosidase alpha class 2B member 2 | Altid | I 1 tilstand |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Altid | I 3 tilstande |
| MARS1methionyl-tRNA synthetase 1 | Altid | I 1 tilstand |
| MICU1mitochondrial calcium uptake 1 | Altid | I 1 tilstand |
| MOCS3molybdenum cofactor synthesis 3 | Altid | I 1 tilstand |
| MRASmuscle RAS oncogene homolog | Altid | I 2 tilstande |
| MRPS14mitochondrial ribosomal protein S14 | Altid | I 1 tilstand |
| MSL2MSL complex subunit 2 | Altid | I 1 tilstand |
| MTORmechanistic target of rapamycin kinase | Altid | I 2 tilstande |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Altid | I 1 tilstand |
| MYH3myosin heavy chain 3 | Altid | I 3 tilstande |
| NAA80N-alpha-acetyltransferase 80, NatH catalytic subunit | Altid | I 1 tilstand |
| NBNnibrin | Altid | I 1 tilstand |
| NFASCneurofascin | Altid | I 1 tilstand |
| NOTCH2notch receptor 2 | Altid | I 2 tilstande |
| NRASNRAS proto-oncogene, GTPase | Altid | I 3 tilstande |
| NSD1nuclear receptor binding SET domain protein 1 | Altid | I 3 tilstande |
| NXNnucleoredoxin | Altid | I 2 tilstande |
| ODC1ornithine decarboxylase 1 | Altid | I 2 tilstande |
| OGTO-linked N-acetylglucosamine (GlcNAc) transferase | Altid | I 1 tilstand |
| PALB2partner and localizer of BRCA2 | Altid | I 2 tilstande |
| PDZD8PDZ domain containing 8 | Altid | I 1 tilstand |
| PEPDpeptidase D | Altid | I 2 tilstande |
| PEX1peroxisomal biogenesis factor 1 | Altid | I 1 tilstand |
| PEX6peroxisomal biogenesis factor 6 | Altid | I 2 tilstande |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Altid | I 2 tilstande |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Altid | I 1 tilstand |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Altid | I 2 tilstande |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Altid | I 2 tilstande |
| PLCB3phospholipase C beta 3 | Altid | I 1 tilstand |
| POC1APOC1 centriolar protein A | Altid | I 1 tilstand |
| PTDSS1phosphatidylserine synthase 1 | Altid | I 2 tilstande |
| PTH1Rparathyroid hormone 1 receptor | Altid | I 3 tilstande |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Altid | I 4 tilstande |
| PTRH2peptidyl-tRNA hydrolase 2 | Altid | I 2 tilstande |
| PUM1pumilio RNA binding family member 1 | Altid | I 1 tilstand |
| PYCR1pyrroline-5-carboxylate reductase 1 | Altid | I 2 tilstande |
| RAC3Rac family small GTPase 3 | Altid | I 1 tilstand |
| RAP1GDS1Rap1 GTPase-GDP dissociation stimulator 1 | Altid | I 1 tilstand |
| RAPSNreceptor associated protein of the synapse | Altid | I 2 tilstande |
| RECQL4RecQ like helicase 4 | Altid | I 3 tilstande |
| RIPK4receptor interacting serine/threonine kinase 4 | Altid | I 2 tilstande |
| RNF2ring finger protein 2 | Altid | I 1 tilstand |
| RPS6KA3ribosomal protein S6 kinase A3 | Altid | I 3 tilstande |
| RSPRY1ring finger and SPRY domain containing 1 | Altid | I 2 tilstande |
| SEC23ASEC23 homolog A, COPII component | Altid | I 2 tilstande |
| SETD2SET domain containing 2, histone lysine methyltransferase | Altid | I 1 tilstand |
| SH3PXD2BSH3 and PX domains 2B | Altid | I 2 tilstande |
| SIAH1siah E3 ubiquitin protein ligase 1 | Altid | I 1 tilstand |
| SIK3SIK family kinase 3 | Altid | I 1 tilstand |
| SIN3ASIN3 transcription regulator family member A | Altid | I 2 tilstande |
| SKIC3SKI3 subunit of superkiller complex | Altid | I 2 tilstande |
| SLC37A4solute carrier family 37 member 4 | Altid | I 1 tilstand |
| SLC39A13solute carrier family 39 member 13 | Altid | I 1 tilstand |
| SNAP29synaptosome associated protein 29 | Altid | I 2 tilstande |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Altid | I 2 tilstande |
| STRADASTE20 related adaptor alpha | Altid | I 1 tilstand |
| SUFUSUFU negative regulator of hedgehog signaling | Altid | I 2 tilstande |
| SUPT7LSPT7 like, STAGA complex subunit gamma | Altid | I 1 tilstand |
| TASP1taspase 1 | Altid | I 1 tilstand |
| TBC1D32TBC1 domain family member 32 | Altid | I 2 tilstande |
| TBX15T-box transcription factor 15 | Altid | I 2 tilstande |
| TCF3transcription factor 3 | Altid | I 2 tilstande |
| TMCO1transmembrane and coiled-coil domains 1 | Altid | I 2 tilstande |
| TPRKBTP53RK binding protein | Altid | I 2 tilstande |
| TTC7Atetratricopeptide repeat domain 7A | Altid | I 1 tilstand |
| TWIST1twist family bHLH transcription factor 1 | Altid | I 5 tilstande |
| UBAP2Lubiquitin associated protein 2 like | Altid | I 1 tilstand |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Altid | I 1 tilstand |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Altid | I 1 tilstand |
| UNC13Aunc-13 homolog A | Altid | I 1 tilstand |
| VPS35LVPS35 endosomal protein sorting factor like | Altid | I 2 tilstande |
| WDR35WD repeat domain 35 | Altid | I 1 tilstand |
| ZMPSTE24zinc metallopeptidase STE24 | Altid | I 2 tilstande |
| ZSWIM6zinc finger SWIM-type containing 6 | Altid | I 2 tilstande |
| ACTBactin beta | Meget ofte (80–99 %) | I 3 tilstande |
| ACTG1actin gamma 1 | Meget ofte (80–99 %) | I 2 tilstande |
| AGAaspartylglucosaminidase | Meget ofte (80–99 %) | I 1 tilstand |
| ANKRD11ankyrin repeat domain 11 | Meget ofte (80–99 %) | I 2 tilstande |
| ATP6V1AATPase H+ transporting V1 subunit A | Meget ofte (80–99 %) | I 2 tilstande |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Meget ofte (80–99 %) | I 2 tilstande |
| B4GALT7beta-1,4-galactosyltransferase 7 | Meget ofte (80–99 %) | I 1 tilstand |
| BMP2bone morphogenetic protein 2 | Meget ofte (80–99 %) | I 1 tilstand |
| BRPF1bromodomain and PHD finger containing 1 | Meget ofte (80–99 %) | I 1 tilstand |
| CBLCbl proto-oncogene | Meget ofte (80–99 %) | I 2 tilstande |
| CHST3carbohydrate sulfotransferase 3 | Meget ofte (80–99 %) | I 3 tilstande |
| COL11A1collagen type XI alpha 1 chain | Meget ofte (80–99 %) | I 3 tilstande |
| CPLX1complexin 1 | Meget ofte (80–99 %) | I 3 tilstande |
| CTBP1C-terminal binding protein 1 | Meget ofte (80–99 %) | I 2 tilstande |
| DDR2discoidin domain receptor tyrosine kinase 2 | Meget ofte (80–99 %) | I 1 tilstand |
| DPYSL5dihydropyrimidinase like 5 | Meget ofte (80–99 %) | I 2 tilstande |
| DSEdermatan sulfate epimerase | Meget ofte (80–99 %) | I 2 tilstande |
| DVL1dishevelled segment polarity protein 1 | Meget ofte (80–99 %) | I 3 tilstande |
| DVL3dishevelled segment polarity protein 3 | Meget ofte (80–99 %) | I 2 tilstande |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Meget ofte (80–99 %) | I 2 tilstande |
| EHMT1euchromatic histone lysine methyltransferase 1 | Meget ofte (80–99 %) | I 2 tilstande |
| ERMARDER membrane associated RNA degradation | Meget ofte (80–99 %) | I 1 tilstand |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Meget ofte (80–99 %) | I 4 tilstande |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Meget ofte (80–99 %) | I 2 tilstande |
| FBN1fibrillin 1 | Meget ofte (80–99 %) | I 4 tilstande |
| FGF20fibroblast growth factor 20 | Meget ofte (80–99 %) | I 1 tilstand |
| FGFR1fibroblast growth factor receptor 1 | Meget ofte (80–99 %) | I 7 tilstande |
| FREM1FRAS1 related extracellular matrix 1 | Meget ofte (80–99 %) | I 3 tilstande |
| GFRA1GDNF family receptor alpha 1 | Meget ofte (80–99 %) | I 1 tilstand |
| GLE1GLE1 RNA export mediator | Meget ofte (80–99 %) | I 1 tilstand |
| GLI3GLI family zinc finger 3 | Meget ofte (80–99 %) | I 4 tilstande |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Meget ofte (80–99 %) | I 2 tilstande |
| GPC3glypican 3 | Meget ofte (80–99 %) | I 2 tilstande |
| GREB1LGREB1 like retinoic acid receptor coactivator | Meget ofte (80–99 %) | I 1 tilstand |
| HDAC4histone deacetylase 4 | Meget ofte (80–99 %) | I 1 tilstand |
| HMGA2high mobility group AT-hook 2 | Meget ofte (80–99 %) | I 1 tilstand |
| INTS1integrator complex subunit 1 | Meget ofte (80–99 %) | I 1 tilstand |
| ITGA8integrin subunit alpha 8 | Meget ofte (80–99 %) | I 2 tilstande |
| KATNB1katanin regulatory subunit B1 | Meget ofte (80–99 %) | I 1 tilstand |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Meget ofte (80–99 %) | I 3 tilstande |
| KCNMA1potassium calcium-activated channel subfamily M alpha 1 | Meget ofte (80–99 %) | I 1 tilstand |
| LEMD3LEM domain containing 3 | Meget ofte (80–99 %) | I 1 tilstand |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Meget ofte (80–99 %) | I 2 tilstande |
| LMNAlamin A/C | Meget ofte (80–99 %) | I 1 tilstand |
| LRP2LDL receptor related protein 2 | Meget ofte (80–99 %) | I 2 tilstande |
| LRP5LDL receptor related protein 5 | Meget ofte (80–99 %) | I 1 tilstand |
| LZTR1leucine zipper like post translational regulator 1 | Meget ofte (80–99 %) | I 3 tilstande |
| MAP2K2mitogen-activated protein kinase kinase 2 | Meget ofte (80–99 %) | I 3 tilstande |
| MEGF8multiple EGF like domains 8 | Meget ofte (80–99 %) | I 2 tilstande |
| MID1midline 1 | Meget ofte (80–99 %) | I 2 tilstande |
| MN1MN1 proto-oncogene, transcriptional regulator | Meget ofte (80–99 %) | I 1 tilstand |
| NALCNsodium leak channel, non-selective | Meget ofte (80–99 %) | I 2 tilstande |
| NDE1nudE neurodevelopment protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| NELFAnegative elongation factor complex member A | Meget ofte (80–99 %) | I 1 tilstand |
| NF1neurofibromin 1 | Meget ofte (80–99 %) | I 6 tilstande |
| NSD2nuclear receptor binding SET domain protein 2 | Meget ofte (80–99 %) | I 3 tilstande |
| OFD1OFD1 centriole and centriolar satellite protein | Meget ofte (80–99 %) | I 3 tilstande |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Meget ofte (80–99 %) | I 1 tilstand |
| PAX3paired box 3 | Meget ofte (80–99 %) | I 3 tilstande |
| PGAP2post-GPI attachment to proteins 2 | Meget ofte (80–99 %) | I 2 tilstande |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Meget ofte (80–99 %) | I 2 tilstande |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Meget ofte (80–99 %) | I 3 tilstande |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Meget ofte (80–99 %) | I 2 tilstande |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Meget ofte (80–99 %) | I 1 tilstand |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Meget ofte (80–99 %) | I 1 tilstand |
| POGZpogo transposable element derived with ZNF domain | Meget ofte (80–99 %) | I 2 tilstande |
| POLR1ARNA polymerase I subunit A | Meget ofte (80–99 %) | I 2 tilstande |
| POLR3ARNA polymerase III subunit A | Meget ofte (80–99 %) | I 2 tilstande |
| RAB23RAB23, member RAS oncogene family | Meget ofte (80–99 %) | I 1 tilstand |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Meget ofte (80–99 %) | I 4 tilstande |
| RASA2RAS p21 protein activator 2 | Meget ofte (80–99 %) | I 1 tilstand |
| RB1RB transcriptional corepressor 1 | Meget ofte (80–99 %) | I 1 tilstand |
| RELNreelin | Meget ofte (80–99 %) | I 1 tilstand |
| RETret proto-oncogene | Meget ofte (80–99 %) | I 1 tilstand |
| RIT1Ras like without CAAX 1 | Meget ofte (80–99 %) | I 2 tilstande |
| ROR2ROR family WNT receptor 2 | Meget ofte (80–99 %) | I 2 tilstande |
| RRASRAS related | Meget ofte (80–99 %) | I 1 tilstand |
| RRAS2RAS related 2 | Meget ofte (80–99 %) | I 1 tilstand |
| RUNX2RUNX family transcription factor 2 | Meget ofte (80–99 %) | I 2 tilstande |
| RYR1ryanodine receptor 1 | Meget ofte (80–99 %) | I 2 tilstande |
| SETD5SET domain containing 5 | 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 2 tilstande |
| SLC29A3solute carrier family 29 member 3 | Meget ofte (80–99 %) | I 1 tilstand |
| SMOsmoothened, frizzled class receptor | Meget ofte (80–99 %) | I 1 tilstand |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Meget ofte (80–99 %) | I 2 tilstande |
| SOX9SRY-box transcription factor 9 | Meget ofte (80–99 %) | I 2 tilstande |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Meget ofte (80–99 %) | I 2 tilstande |
| SPOPspeckle type BTB/POZ protein | Meget ofte (80–99 %) | I 1 tilstand |
| SPRED2sprouty related EVH1 domain containing 2 | Meget ofte (80–99 %) | I 2 tilstande |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Meget ofte (80–99 %) | I 2 tilstande |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Meget ofte (80–99 %) | I 1 tilstand |
| TCTN3tectonic family member 3 | Meget ofte (80–99 %) | I 4 tilstande |
| TFAP2Btranscription factor AP-2 beta | Meget ofte (80–99 %) | I 2 tilstande |
| TFE3transcription factor binding to IGHM enhancer 3 | Meget ofte (80–99 %) | I 1 tilstand |
| TGFBR1transforming growth factor beta receptor 1 | Meget ofte (80–99 %) | I 3 tilstande |
| TGFBR2transforming growth factor beta receptor 2 | Meget ofte (80–99 %) | I 3 tilstande |
| TMEM53transmembrane protein 53 | Meget ofte (80–99 %) | I 1 tilstand |
| TNFRSF11ATNF receptor superfamily member 11a | Meget ofte (80–99 %) | I 1 tilstand |
| TOP2BDNA topoisomerase II beta | Meget ofte (80–99 %) | I 1 tilstand |
| TRAPPC9trafficking protein particle complex subunit 9 | Meget ofte (80–99 %) | I 2 tilstande |
| TWIST2twist family bHLH transcription factor 2 | Meget ofte (80–99 %) | I 3 tilstande |
| TXNL4Athioredoxin like 4A | Meget ofte (80–99 %) | I 2 tilstande |
| WASHC5WASH complex subunit 5 | Meget ofte (80–99 %) | I 2 tilstande |
| WNT5AWnt family member 5A | Meget ofte (80–99 %) | I 2 tilstande |
| WNT9BWnt family member 9B | Meget ofte (80–99 %) | I 1 tilstand |
| XYLT2xylosyltransferase 2 | Meget ofte (80–99 %) | I 1 tilstand |
| YWHAEtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon | Meget ofte (80–99 %) | I 1 tilstand |
| ZBTB18zinc finger and BTB domain containing 18 | Meget ofte (80–99 %) | I 2 tilstande |
| ABCD4ATP binding cassette subfamily D member 4 | Ofte (30–79 %) | I 1 tilstand |
| ACOX1acyl-CoA oxidase 1 | Ofte (30–79 %) | I 2 tilstande |
| ACTL6Bactin like 6B | Ofte (30–79 %) | I 1 tilstand |
| AFF4ALF transcription elongation factor 4 | Ofte (30–79 %) | I 1 tilstand |
| AHDC1AT-hook DNA binding motif containing 1 | Ofte (30–79 %) | I 2 tilstande |
| AKT1AKT serine/threonine kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| AKT3AKT serine/threonine kinase 3 | Ofte (30–79 %) | I 1 tilstand |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Ofte (30–79 %) | I 2 tilstande |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Ofte (30–79 %) | I 3 tilstande |
| ALPK3alpha kinase 3 | Ofte (30–79 %) | I 1 tilstand |
| ALX3ALX homeobox 3 | Ofte (30–79 %) | I 2 tilstande |
| ANAPC7anaphase promoting complex subunit 7 | Ofte (30–79 %) | I 1 tilstand |
| AP1G1adaptor related protein complex 1 subunit gamma 1 | Ofte (30–79 %) | I 1 tilstand |
| APCAPC regulator of Wnt signaling pathway | Ofte (30–79 %) | I 2 tilstande |
| ARID1BAT-rich interaction domain 1B | Ofte (30–79 %) | I 2 tilstande |
| ASH1LASH1 like histone lysine methyltransferase | Ofte (30–79 %) | I 1 tilstand |
| ASNSasparagine synthetase (glutamine-hydrolyzing) | Ofte (30–79 %) | I 1 tilstand |
| ASXL1ASXL transcriptional regulator 1 | Ofte (30–79 %) | I 2 tilstande |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Ofte (30–79 %) | I 2 tilstande |
| ATXN7L3ataxin 7 like 3 | Ofte (30–79 %) | I 1 tilstand |
| AUTS2activator of transcription and developmental regulator AUTS2 | Ofte (30–79 %) | I 2 tilstande |
| B3GLCTbeta 3-glucosyltransferase | Ofte (30–79 %) | I 2 tilstande |
| B9D1B9 domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| B9D2B9 domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| BCL11BBCL11 transcription factor B | Ofte (30–79 %) | I 2 tilstande |
| BCORL1BCL6 corepressor like 1 | Ofte (30–79 %) | I 1 tilstand |
| BGNbiglycan | Ofte (30–79 %) | I 1 tilstand |
| BMPR1Abone morphogenetic protein receptor type 1A | Ofte (30–79 %) | I 1 tilstand |
| BORCS8BLOC-1 related complex subunit 8 | Ofte (30–79 %) | I 1 tilstand |
| BPTFbromodomain PHD finger transcription factor | Ofte (30–79 %) | I 2 tilstande |
| BRCC3BRCA1/BRCA2-containing complex subunit 3 | Ofte (30–79 %) | I 1 tilstand |
| CAMTA1calmodulin binding transcription activator 1 | Ofte (30–79 %) | I 1 tilstand |
| CASKcalcium/calmodulin dependent serine protein kinase | Ofte (30–79 %) | I 3 tilstande |
| CC2D2Acoiled-coil and C2 domain containing 2A | Ofte (30–79 %) | I 1 tilstand |
| CCDC32coiled-coil domain containing 32 | Ofte (30–79 %) | I 1 tilstand |
| CCDC47coiled-coil domain containing 47 | Ofte (30–79 %) | I 1 tilstand |
| CCND2cyclin D2 | Ofte (30–79 %) | I 1 tilstand |
| CDK13cyclin dependent kinase 13 | Ofte (30–79 %) | I 1 tilstand |
| CDK19cyclin dependent kinase 19 | Ofte (30–79 %) | I 1 tilstand |
| CEP120centrosomal protein 120 | Ofte (30–79 %) | I 1 tilstand |
| CEP290centrosomal protein 290 | Ofte (30–79 %) | I 2 tilstande |
| CHD3chromodomain helicase DNA binding protein 3 | Ofte (30–79 %) | I 1 tilstand |
| CHD8chromodomain helicase DNA binding protein 8 | Ofte (30–79 %) | I 2 tilstande |
| CHRNGcholinergic receptor nicotinic gamma subunit | Ofte (30–79 %) | I 3 tilstande |
| CILK1ciliogenesis associated kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| CLCN6Cl-/H+ antiporter 6 | Ofte (30–79 %) | I 1 tilstand |
| CLCN7Cl-/H+ antiporter 7 | Ofte (30–79 %) | I 1 tilstand |
| COG1component of oligomeric golgi complex 1 | Ofte (30–79 %) | I 2 tilstande |
| COL1A1collagen type I alpha 1 chain | Ofte (30–79 %) | I 1 tilstand |
| COL1A2collagen type I alpha 2 chain | Ofte (30–79 %) | I 1 tilstand |
| COL2A1collagen type II alpha 1 chain | Ofte (30–79 %) | I 2 tilstande |
| COLEC10collectin subfamily member 10 | Ofte (30–79 %) | I 2 tilstande |
| COX7Bcytochrome c oxidase subunit 7B | Ofte (30–79 %) | I 1 tilstand |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Ofte (30–79 %) | I 2 tilstande |
| CSPP1centrosome and spindle pole associated protein 1 | Ofte (30–79 %) | I 3 tilstande |
| CTNND1catenin delta 1 | Ofte (30–79 %) | I 2 tilstande |
| CTNND2catenin delta 2 | Ofte (30–79 %) | I 1 tilstand |
| DDX6DEAD-box helicase 6 | Ofte (30–79 %) | I 1 tilstand |
| DEF6DEF6 guanine nucleotide exchange factor | Ofte (30–79 %) | I 1 tilstand |
| DHRS3dehydrogenase/reductase 3 | Ofte (30–79 %) | I 1 tilstand |
| DLX4distal-less homeobox 4 | Ofte (30–79 %) | I 1 tilstand |
| DOK7docking protein 7 | Ofte (30–79 %) | I 1 tilstand |
| DOT1LDOT1 like histone lysine methyltransferase | Ofte (30–79 %) | I 1 tilstand |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Ofte (30–79 %) | I 2 tilstande |
| EBPEBP cholestenol delta-isomerase | Ofte (30–79 %) | I 2 tilstande |
| EPB41L1erythrocyte membrane protein band 4.1 like 1 | Ofte (30–79 %) | I 1 tilstand |
| EXOC2exocyst complex component 2 | Ofte (30–79 %) | I 1 tilstand |
| EXT2exostosin glycosyltransferase 2 | Ofte (30–79 %) | I 2 tilstande |
| FAAP100FA core complex associated protein 100 | Ofte (30–79 %) | I 2 tilstande |
| FAM111AFAM111 trypsin like peptidase A | Ofte (30–79 %) | I 1 tilstand |
| FAM149B1family with sequence similarity 149 member B1 | Ofte (30–79 %) | I 1 tilstand |
| FANCLFA complementation group L | Ofte (30–79 %) | I 2 tilstande |
| FAR1fatty acyl-CoA reductase 1 | Ofte (30–79 %) | I 2 tilstande |
| FBXO22F-box protein 22 | Ofte (30–79 %) | I 1 tilstand |
| FBXO31F-box protein 31 | Ofte (30–79 %) | I 1 tilstand |
| FGFR3fibroblast growth factor receptor 3 | Ofte (30–79 %) | I 6 tilstande |
| FGFRL1fibroblast growth factor receptor like 1 | Ofte (30–79 %) | I 1 tilstand |
| FHfumarate hydratase | Ofte (30–79 %) | I 2 tilstande |
| FIG4FIG4 phosphoinositide 5-phosphatase | Ofte (30–79 %) | I 2 tilstande |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Ofte (30–79 %) | I 1 tilstand |
| FOXC1forkhead box C1 | Ofte (30–79 %) | I 2 tilstande |
| FOXP1forkhead box P1 | Ofte (30–79 %) | I 2 tilstande |
| FRAS1Fraser extracellular matrix complex subunit 1 | Ofte (30–79 %) | I 2 tilstande |
| FREM2FRAS1 related extracellular matrix 2 | Ofte (30–79 %) | I 1 tilstand |
| GAD1glutamate decarboxylase 1 | Ofte (30–79 %) | I 1 tilstand |
| GLDNgliomedin | Ofte (30–79 %) | I 1 tilstand |
| GPAA1glycosylphosphatidylinositol anchor attachment 1 | Ofte (30–79 %) | I 1 tilstand |
| GRIP1glutamate receptor interacting protein 1 | Ofte (30–79 %) | I 1 tilstand |
| H4C3H4 clustered histone 3 | Ofte (30–79 %) | I 1 tilstand |
| H4C9H4 clustered histone 9 | Ofte (30–79 %) | I 1 tilstand |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Ofte (30–79 %) | I 1 tilstand |
| HBA1hemoglobin subunit alpha 1 | Ofte (30–79 %) | I 1 tilstand |
| HBA2hemoglobin subunit alpha 2 | Ofte (30–79 %) | I 1 tilstand |
| HID1HID1 domain containing | Ofte (30–79 %) | I 1 tilstand |
| HNRNPUheterogeneous nuclear ribonucleoprotein U | 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 |
| IFT43intraflagellar transport 43 | Ofte (30–79 %) | I 1 tilstand |
| INPPL1inositol polyphosphate phosphatase like 1 | Ofte (30–79 %) | I 1 tilstand |
| INTS8integrator complex subunit 8 | Ofte (30–79 %) | I 1 tilstand |
| IPO8importin 8 | Ofte (30–79 %) | I 2 tilstande |
| KAT6Blysine acetyltransferase 6B | Ofte (30–79 %) | I 1 tilstand |
| KIF21Akinesin family member 21A | Ofte (30–79 %) | I 1 tilstand |
| KLHL20kelch like family member 20 | Ofte (30–79 %) | I 1 tilstand |
| KMT2Alysine methyltransferase 2A | Ofte (30–79 %) | I 2 tilstande |
| KNSTRNkinetochore localized astrin (SPAG5) binding protein | Ofte (30–79 %) | I 2 tilstande |
| LRP4LDL receptor related protein 4 | Ofte (30–79 %) | I 3 tilstande |
| MAFMAF bZIP transcription factor | Ofte (30–79 %) | I 2 tilstande |
| MAGEL2MAGE family member L2 | Ofte (30–79 %) | I 1 tilstand |
| MAN1B1mannosidase alpha class 1B member 1 | Ofte (30–79 %) | I 2 tilstande |
| MAN2B1mannosidase alpha class 2B member 1 | Ofte (30–79 %) | I 1 tilstand |
| MAP2K1mitogen-activated protein kinase kinase 1 | Ofte (30–79 %) | I 3 tilstande |
| MAPK1mitogen-activated protein kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| MARS2methionyl-tRNA synthetase 2, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| MASP1MBL associated serine protease 1 | Ofte (30–79 %) | I 2 tilstande |
| MBD5methyl-CpG binding domain protein 5 | 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 |
| MED25mediator complex subunit 25 | Ofte (30–79 %) | I 2 tilstande |
| MKS1MKS transition zone complex subunit 1 | Ofte (30–79 %) | I 4 tilstande |
| MUSKmuscle associated receptor tyrosine kinase | Ofte (30–79 %) | I 2 tilstande |
| MYOD1myogenic differentiation 1 | Ofte (30–79 %) | I 1 tilstand |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Ofte (30–79 %) | I 1 tilstand |
| NCDNneurochondrin | Ofte (30–79 %) | I 1 tilstand |
| NFIXnuclear factor I X | Ofte (30–79 %) | I 1 tilstand |
| NGLY1N-glycanase 1 | Ofte (30–79 %) | I 1 tilstand |
| NKX2-5NK2 homeobox 5 | Ofte (30–79 %) | I 2 tilstande |
| NOTCH3notch receptor 3 | Ofte (30–79 %) | I 3 tilstande |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Ofte (30–79 %) | I 1 tilstand |
| NUP88nucleoporin 88 | Ofte (30–79 %) | I 1 tilstand |
| OTUD5OTU deubiquitinase 5 | Ofte (30–79 %) | I 1 tilstand |
| PACS1phosphofurin acidic cluster sorting protein 1 | Ofte (30–79 %) | I 2 tilstande |
| PACS2phosphofurin acidic cluster sorting protein 2 | Ofte (30–79 %) | I 1 tilstand |
| PAICSphosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase | Ofte (30–79 %) | I 1 tilstand |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Ofte (30–79 %) | I 1 tilstand |
| PDE4Dphosphodiesterase 4D | Ofte (30–79 %) | I 2 tilstande |
| PDE6Dphosphodiesterase 6D | Ofte (30–79 %) | I 1 tilstand |
| PHACTR1phosphatase and actin regulator 1 | Ofte (30–79 %) | I 1 tilstand |
| PHIPPHIP subunit of CUL4-Ring ligase complex | Ofte (30–79 %) | I 2 tilstande |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Ofte (30–79 %) | I 3 tilstande |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Ofte (30–79 %) | I 3 tilstande |
| PIK3R2phosphoinositide-3-kinase regulatory subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| PITX1paired like homeodomain 1 | Ofte (30–79 %) | I 1 tilstand |
| PMM2phosphomannomutase 2 | Ofte (30–79 %) | I 1 tilstand |
| POLR2ARNA polymerase II subunit A | Ofte (30–79 %) | I 1 tilstand |
| PORcytochrome p450 oxidoreductase | Ofte (30–79 %) | I 1 tilstand |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Ofte (30–79 %) | I 2 tilstande |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Ofte (30–79 %) | I 1 tilstand |
| PPP2R1Aprotein phosphatase 2 scaffold subunit Aalpha | Ofte (30–79 %) | I 2 tilstande |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Ofte (30–79 %) | I 1 tilstand |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Ofte (30–79 %) | I 2 tilstande |
| PRMT7protein arginine methyltransferase 7 | Ofte (30–79 %) | I 2 tilstande |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Ofte (30–79 %) | I 1 tilstand |
| PSAT1phosphoserine aminotransferase 1 | Ofte (30–79 %) | I 2 tilstande |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Ofte (30–79 %) | I 2 tilstande |
| PTENphosphatase and tensin homolog | Ofte (30–79 %) | I 2 tilstande |
| PUS1pseudouridine synthase 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 |
| RAI1retinoic acid induced 1 | Ofte (30–79 %) | I 3 tilstande |
| RBL2RB transcriptional corepressor like 2 | Ofte (30–79 %) | I 1 tilstand |
| RBM10RNA binding motif protein 10 | Ofte (30–79 %) | I 2 tilstande |
| RLIMring finger protein, LIM domain interacting | Ofte (30–79 %) | I 1 tilstand |
| RNU4ATACRNA, U4atac small nuclear | Ofte (30–79 %) | I 1 tilstand |
| RPGRIP1RPGR interacting protein 1 | Ofte (30–79 %) | I 1 tilstand |
| RPGRIP1LRPGRIP1 like | Ofte (30–79 %) | I 1 tilstand |
| RUSC2RUN and SH3 domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| SCNM1sodium channel modifier 1 | Ofte (30–79 %) | I 1 tilstand |
| SEMA5Asemaphorin 5A | Ofte (30–79 %) | I 1 tilstand |
| SETSET nuclear proto-oncogene | Ofte (30–79 %) | I 1 tilstand |
| SETBP1SET binding protein 1 | Ofte (30–79 %) | I 3 tilstande |
| SETD1ASET domain containing 1A, histone lysine methyltransferase | Ofte (30–79 %) | I 1 tilstand |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Ofte (30–79 %) | I 2 tilstande |
| SIX2SIX homeobox 2 | Ofte (30–79 %) | I 1 tilstand |
| SKIC2SKI2 subunit of superkiller complex | Ofte (30–79 %) | I 2 tilstande |
| SLC12A6solute carrier family 12 member 6 | Ofte (30–79 %) | I 1 tilstand |
| SLC18A3solute carrier family 18 member A3 | Ofte (30–79 %) | I 1 tilstand |
| SLC25A12solute carrier family 25 member 12 | Ofte (30–79 %) | I 1 tilstand |
| SLC26A2solute carrier family 26 member 2 | Ofte (30–79 %) | I 2 tilstande |
| SLC2A10solute carrier family 2 member 10 | Ofte (30–79 %) | I 2 tilstande |
| SMAD2SMAD family member 2 | Ofte (30–79 %) | I 3 tilstande |
| SMAD3SMAD family member 3 | Ofte (30–79 %) | I 4 tilstande |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Ofte (30–79 %) | I 1 tilstand |
| SMG9SMG9 nonsense mediated mRNA decay factor | Ofte (30–79 %) | I 1 tilstand |
| SPARTspartin | Ofte (30–79 %) | I 2 tilstande |
| SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit | Ofte (30–79 %) | I 2 tilstande |
| TAF1TATA-box binding protein associated factor 1 | Ofte (30–79 %) | I 1 tilstand |
| TBC1D24TBC1 domain family member 24 | Ofte (30–79 %) | I 2 tilstande |
| TBCEtubulin folding cofactor E | Ofte (30–79 %) | I 2 tilstande |
| TBCKTBC1 domain containing kinase | Ofte (30–79 %) | I 1 tilstand |
| TBL1XR1TBL1X/Y related 1 | Ofte (30–79 %) | I 2 tilstande |
| TBR1T-box brain transcription factor 1 | Ofte (30–79 %) | I 1 tilstand |
| TBX1T-box transcription factor 1 | Ofte (30–79 %) | I 4 tilstande |
| TBX2T-box transcription factor 2 | Ofte (30–79 %) | I 1 tilstand |
| TCTN1tectonic family member 1 | Ofte (30–79 %) | I 1 tilstand |
| TCTN2tectonic family member 2 | Ofte (30–79 %) | I 1 tilstand |
| TGDSTDP-glucose 4,6-dehydratase | Ofte (30–79 %) | I 2 tilstande |
| TGFB2transforming growth factor beta 2 | Ofte (30–79 %) | I 3 tilstande |
| TGFB3transforming growth factor beta 3 | Ofte (30–79 %) | I 3 tilstande |
| THSD1thrombospondin type 1 domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| TLK2tousled like kinase 2 | Ofte (30–79 %) | I 1 tilstand |
| TMEM107transmembrane protein 107 | Ofte (30–79 %) | I 1 tilstand |
| TMEM216transmembrane protein 216 | Ofte (30–79 %) | I 3 tilstande |
| TMEM231transmembrane protein 231 | Ofte (30–79 %) | I 2 tilstande |
| TMEM237transmembrane protein 237 | Ofte (30–79 %) | I 2 tilstande |
| TMEM67transmembrane protein 67 | Ofte (30–79 %) | I 2 tilstande |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Ofte (30–79 %) | I 1 tilstand |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Ofte (30–79 %) | I 1 tilstand |
| TRAF7TNF receptor associated factor 7 | Ofte (30–79 %) | I 1 tilstand |
| TRIM33tripartite motif containing 33 | Ofte (30–79 %) | I 1 tilstand |
| TRIP4thyroid hormone receptor interactor 4 | Ofte (30–79 %) | I 1 tilstand |
| TUBA1Atubulin alpha 1a | Ofte (30–79 %) | I 1 tilstand |
| TUBBtubulin beta class I | Ofte (30–79 %) | I 1 tilstand |
| TXNDC15thioredoxin domain containing 15 | Ofte (30–79 %) | I 2 tilstande |
| UBE2Aubiquitin conjugating enzyme E2 A | Ofte (30–79 %) | I 2 tilstande |
| UBE3Bubiquitin protein ligase E3B | Ofte (30–79 %) | I 1 tilstand |
| UBR7ubiquitin protein ligase E3 component n-recognin 7 | Ofte (30–79 %) | I 1 tilstand |
| UMPSuridine monophosphate synthetase | Ofte (30–79 %) | I 1 tilstand |
| USB1U6 snRNA biogenesis phosphodiesterase 1 | Ofte (30–79 %) | I 1 tilstand |
| VAC14VAC14 component of PIKFYVE complex | Ofte (30–79 %) | I 1 tilstand |
| VSX1visual system homeobox 1 | Ofte (30–79 %) | I 1 tilstand |
| WBP4WW domain binding protein 4 | Ofte (30–79 %) | I 1 tilstand |
| WDR26WD repeat domain 26 | Ofte (30–79 %) | I 1 tilstand |
| WDR37WD repeat domain 37 | Ofte (30–79 %) | I 1 tilstand |
| ZNF292zinc finger protein 292 | Ofte (30–79 %) | I 1 tilstand |
| AARS1alanyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ACTA1actin alpha 1, skeletal muscle | Nogle gange (5–29 %) | I 2 tilstande |
| ACTA2actin alpha 2, smooth muscle | Nogle gange (5–29 %) | I 1 tilstand |
| ADAMTS15ADAM metallopeptidase with thrombospondin type 1 motif 15 | Nogle gange (5–29 %) | I 1 tilstand |
| ADAMTSL2ADAMTS like 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ADAT3adenosine deaminase tRNA specific 3 | Nogle gange (5–29 %) | I 1 tilstand |
| ADGRG6adhesion G protein-coupled receptor G6 | Nogle gange (5–29 %) | I 1 tilstand |
| ADNPactivity dependent neuroprotector homeobox | Nogle gange (5–29 %) | I 1 tilstand |
| AFF3ALF transcription elongation factor 3 | Nogle gange (5–29 %) | I 1 tilstand |
| ALG6ALG6 alpha-1,3-glucosyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| ANK1ankyrin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ARL6ARF like GTPase 6 | Nogle gange (5–29 %) | I 1 tilstand |
| ARVCFARVCF delta catenin family member | Nogle gange (5–29 %) | I 1 tilstand |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Nogle gange (5–29 %) | I 1 tilstand |
| ASXL3ASXL transcriptional regulator 3 | Nogle gange (5–29 %) | I 2 tilstande |
| B4GALT1beta-1,4-galactosyltransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| BBIP1BBSome interacting protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| BBS1Bardet-Biedl syndrome 1 | Nogle gange (5–29 %) | I 1 tilstand |
| BBS10Bardet-Biedl syndrome 10 | Nogle gange (5–29 %) | I 1 tilstand |
| BBS12Bardet-Biedl syndrome 12 | Nogle gange (5–29 %) | I 1 tilstand |
| BBS2Bardet-Biedl syndrome 2 | Nogle gange (5–29 %) | I 1 tilstand |
| BBS4Bardet-Biedl syndrome 4 | Nogle gange (5–29 %) | I 1 tilstand |
| BBS5Bardet-Biedl syndrome 5 | Nogle gange (5–29 %) | I 1 tilstand |
| BBS9Bardet-Biedl syndrome 9 | Nogle gange (5–29 %) | I 1 tilstand |
| BCAS3BCAS3 microtubule associated cell migration factor | Nogle gange (5–29 %) | I 1 tilstand |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Nogle gange (5–29 %) | I 1 tilstand |
| BLNKB cell linker | Nogle gange (5–29 %) | I 1 tilstand |
| BRCA1BRCA1 DNA repair associated | Nogle gange (5–29 %) | I 2 tilstande |
| BRCA2BRCA2 DNA repair associated | Nogle gange (5–29 %) | I 1 tilstand |
| BRIP1BRCA1 interacting DNA helicase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Nogle gange (5–29 %) | I 1 tilstand |
| CAPRIN1cell cycle associated protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CARS1cysteinyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CD79ACD79a molecule | Nogle gange (5–29 %) | I 1 tilstand |
| CD79BCD79b molecule | Nogle gange (5–29 %) | I 1 tilstand |
| CDC42cell division cycle 42 | Nogle gange (5–29 %) | I 2 tilstande |
| CDC42BPBCDC42 binding protein kinase beta | Nogle gange (5–29 %) | I 1 tilstand |
| CDCA7cell division cycle associated 7 | Nogle gange (5–29 %) | I 2 tilstande |
| CDH2cadherin 2 | Nogle gange (5–29 %) | I 1 tilstand |
| CEP19centrosomal protein 19 | Nogle gange (5–29 %) | I 1 tilstand |
| CFAP418cilia and flagella associated protein 418 | Nogle gange (5–29 %) | I 1 tilstand |
| CHD7chromodomain helicase DNA binding protein 7 | Nogle gange (5–29 %) | I 3 tilstande |
| CHRNA7cholinergic receptor nicotinic alpha 7 subunit | Nogle gange (5–29 %) | I 1 tilstand |
| CLCN3Cl-/H+ antiporter 3 | Nogle gange (5–29 %) | I 1 tilstand |
| CNOT3CCR4-NOT transcription complex subunit 3 | Nogle gange (5–29 %) | I 1 tilstand |
| CNTNAP2contactin associated protein 2 | Nogle gange (5–29 %) | I 2 tilstande |
| 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 |
| COL11A2collagen type XI alpha 2 chain | Nogle gange (5–29 %) | I 1 tilstand |
| COL25A1collagen type XXV alpha 1 chain | Nogle gange (5–29 %) | I 1 tilstand |
| COMTcatechol-O-methyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| CSNK2A1casein kinase 2 alpha 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CTCFCCCTC-binding factor | Nogle gange (5–29 %) | I 2 tilstande |
| DBR1debranching RNA lariats 1 | Nogle gange (5–29 %) | I 2 tilstande |
| DCHS1dachsous cadherin-related 1 | Nogle gange (5–29 %) | I 2 tilstande |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Nogle gange (5–29 %) | I 1 tilstand |
| DHX37DEAH-box helicase 37 | Nogle gange (5–29 %) | I 1 tilstand |
| DNMT3BDNA methyltransferase 3 beta | Nogle gange (5–29 %) | I 2 tilstande |
| DPF2double PHD fingers 2 | Nogle gange (5–29 %) | I 1 tilstand |
| DPH2diphthamide biosynthesis 2 | Nogle gange (5–29 %) | I 1 tilstand |
| DPYDdihydropyrimidine dehydrogenase | Nogle gange (5–29 %) | I 1 tilstand |
| DUSP6dual specificity phosphatase 6 | Nogle gange (5–29 %) | I 1 tilstand |
| EBF3EBF transcription factor 3 | Nogle gange (5–29 %) | I 1 tilstand |
| EDEM3ER degradation enhancing alpha-mannosidase like protein 3 | Nogle gange (5–29 %) | I 1 tilstand |
| EIF5Aeukaryotic translation initiation factor 5A | Nogle gange (5–29 %) | I 1 tilstand |
| ELNelastin | Nogle gange (5–29 %) | I 1 tilstand |
| EMC1ER membrane protein complex subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| EMX2empty spiracles homeobox 2 | Nogle gange (5–29 %) | I 1 tilstand |
| EPG5ectopic P-granules 5 autophagy tethering factor | Nogle gange (5–29 %) | I 2 tilstande |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Nogle gange (5–29 %) | I 1 tilstand |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Nogle gange (5–29 %) | I 1 tilstand |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| ERGIC1endoplasmic reticulum-golgi intermediate compartment 1 | Nogle gange (5–29 %) | I 1 tilstand |
| EXTL3exostosin like glycosyltransferase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| FANCAFA complementation group A | Nogle gange (5–29 %) | I 1 tilstand |
| FANCBFA complementation group B | Nogle gange (5–29 %) | I 1 tilstand |
| FANCCFA complementation group C | Nogle gange (5–29 %) | I 1 tilstand |
| FANCD2FA complementation group D2 | Nogle gange (5–29 %) | I 2 tilstande |
| FANCEFA complementation group E | Nogle gange (5–29 %) | I 1 tilstand |
| FANCFFA complementation group F | Nogle gange (5–29 %) | I 1 tilstand |
| FANCGFA complementation group G | Nogle gange (5–29 %) | I 1 tilstand |
| FANCIFA complementation group I | Nogle gange (5–29 %) | I 1 tilstand |
| FANCMFA complementation group M | 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 |
| FGF17fibroblast growth factor 17 | Nogle gange (5–29 %) | I 1 tilstand |
| FGF3fibroblast growth factor 3 | Nogle gange (5–29 %) | I 1 tilstand |
| FGF8fibroblast growth factor 8 | Nogle gange (5–29 %) | I 1 tilstand |
| FIBPFGF1 intracellular binding protein | Nogle gange (5–29 %) | I 2 tilstande |
| FOXE3forkhead box E3 | Nogle gange (5–29 %) | I 1 tilstand |
| FOXP2forkhead box P2 | Nogle gange (5–29 %) | I 1 tilstand |
| FRA10AC1FRA10A associated CGG repeat 1 | Nogle gange (5–29 %) | I 1 tilstand |
| FRYLFRY like transcription coactivator | Nogle gange (5–29 %) | I 1 tilstand |
| GATA6GATA binding protein 6 | Nogle gange (5–29 %) | I 1 tilstand |
| GATAD2BGATA zinc finger domain containing 2B | Nogle gange (5–29 %) | I 2 tilstande |
| GINS3GINS complex subunit 3 | Nogle gange (5–29 %) | I 1 tilstand |
| GNPNAT1glucosamine-phosphate N-acetyltransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Nogle gange (5–29 %) | I 1 tilstand |
| GNRH1gonadotropin releasing hormone 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GNRHRgonadotropin releasing hormone receptor | Nogle gange (5–29 %) | I 1 tilstand |
| GON7GON7 subunit of KEOPS complex | Nogle gange (5–29 %) | I 1 tilstand |
| GP1BBglycoprotein Ib platelet subunit beta | Nogle gange (5–29 %) | I 1 tilstand |
| GTF2E2general transcription factor IIE subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GTF2H5general transcription factor IIH subunit 5 | Nogle gange (5–29 %) | I 1 tilstand |
| H3-3AH3.3 histone A | Nogle gange (5–29 %) | I 1 tilstand |
| HEATR3HEAT repeat containing 3 | Nogle gange (5–29 %) | I 2 tilstande |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Nogle gange (5–29 %) | I 1 tilstand |
| HELLShelicase, lymphoid specific | Nogle gange (5–29 %) | I 2 tilstande |
| HEY2hes related family bHLH transcription factor with YRPW motif 2 | Nogle gange (5–29 %) | I 1 tilstand |
| HIRAhistone cell cycle regulator | Nogle gange (5–29 %) | I 1 tilstand |
| HNRNPCheterogeneous nuclear ribonucleoprotein C | Nogle gange (5–29 %) | I 1 tilstand |
| HNRNPH2heterogeneous nuclear ribonucleoprotein H2 | Nogle gange (5–29 %) | I 1 tilstand |
| HPDL4-hydroxyphenylpyruvate dioxygenase like | Nogle gange (5–29 %) | I 1 tilstand |
| HS2ST1heparan sulfate 2-O-sulfotransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| HS6ST1heparan sulfate 6-O-sulfotransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| IFT172intraflagellar transport 172 | Nogle gange (5–29 %) | I 1 tilstand |
| IFT27intraflagellar transport 27 | Nogle gange (5–29 %) | I 1 tilstand |
| IFT56intraflagellar transport 56 | Nogle gange (5–29 %) | I 1 tilstand |
| IFT74intraflagellar transport 74 | Nogle gange (5–29 %) | I 1 tilstand |
| IGHMimmunoglobulin heavy constant mu | Nogle gange (5–29 %) | I 1 tilstand |
| IGLL1immunoglobulin lambda like polypeptide 1 | Nogle gange (5–29 %) | I 1 tilstand |
| IL11RAinterleukin 11 receptor subunit alpha | Nogle gange (5–29 %) | I 1 tilstand |
| INSRinsulin receptor | Nogle gange (5–29 %) | I 1 tilstand |
| JARID2jumonji and AT-rich interaction domain containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| JMJD1Cjumonji domain containing 1C | Nogle gange (5–29 %) | I 1 tilstand |
| KBTBD13kelch repeat and BTB domain containing 13 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNJ5potassium inwardly rectifying channel subfamily J member 5 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Nogle gange (5–29 %) | I 1 tilstand |
| KDM1Alysine demethylase 1A | Nogle gange (5–29 %) | I 1 tilstand |
| KDM2Blysine demethylase 2B | Nogle gange (5–29 %) | I 1 tilstand |
| KDM5Alysine demethylase 5A | Nogle gange (5–29 %) | I 1 tilstand |
| KDM6Alysine demethylase 6A | Nogle gange (5–29 %) | I 1 tilstand |
| KIAA0586KIAA0586 | Nogle gange (5–29 %) | I 1 tilstand |
| KICS2KICSTOR subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| KIF15kinesin family member 15 | Nogle gange (5–29 %) | I 1 tilstand |
| KIFBPkinesin family binding protein | Nogle gange (5–29 %) | I 1 tilstand |
| KISS1KiSS-1 metastasis suppressor | Nogle gange (5–29 %) | I 1 tilstand |
| KISS1RKISS1 receptor | Nogle gange (5–29 %) | I 1 tilstand |
| KLF13KLF transcription factor 13 | Nogle gange (5–29 %) | I 1 tilstand |
| KLHL41kelch like family member 41 | Nogle gange (5–29 %) | I 2 tilstande |
| KMT2Dlysine methyltransferase 2D | Nogle gange (5–29 %) | I 2 tilstande |
| KPTNkaptin, actin binding protein | Nogle gange (5–29 %) | I 1 tilstand |
| KREMEN1kringle containing transmembrane protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| LAGE3L antigen family member 3 | Nogle gange (5–29 %) | I 1 tilstand |
| LMBR1limb development membrane protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| LMNB1lamin B1 | Nogle gange (5–29 %) | I 1 tilstand |
| LOXlysyl oxidase | Nogle gange (5–29 %) | I 1 tilstand |
| LRRC7leucine rich repeat containing 7 | Nogle gange (5–29 %) | I 1 tilstand |
| LRRC8Aleucine rich repeat containing 8 VRAC subunit A | Nogle gange (5–29 %) | I 2 tilstande |
| LTBP3latent transforming growth factor beta binding protein 3 | Nogle gange (5–29 %) | I 1 tilstand |
| LZTFL1leucine zipper transcription factor like 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MACF1microtubule actin crosslinking factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MAD2L2mitotic arrest deficient 2 like 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MAN2C1mannosidase alpha class 2C member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MAPRE2microtubule associated protein RP/EB family member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MARK2microtubule affinity regulating kinase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MAT2Amethionine adenosyltransferase 2A | Nogle gange (5–29 %) | I 1 tilstand |
| MAU2MAU2 sister chromatid cohesion factor | Nogle gange (5–29 %) | I 1 tilstand |
| MED12Lmediator complex subunit 12L | Nogle gange (5–29 %) | I 1 tilstand |
| MED13Lmediator complex subunit 13L | Nogle gange (5–29 %) | I 2 tilstande |
| MED27mediator complex subunit 27 | Nogle gange (5–29 %) | I 1 tilstand |
| MFAP5microfibril associated protein 5 | Nogle gange (5–29 %) | I 1 tilstand |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| MKKSMKKS centrosomal shuttling protein | Nogle gange (5–29 %) | I 1 tilstand |
| MPLKIPM-phase specific PLK1 interacting protein | Nogle gange (5–29 %) | I 1 tilstand |
| MYH11myosin heavy chain 11 | Nogle gange (5–29 %) | I 1 tilstand |
| MYLKmyosin light chain kinase | Nogle gange (5–29 %) | I 1 tilstand |
| MYPNmyopalladin | Nogle gange (5–29 %) | I 1 tilstand |
| NARS1asparaginyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NAV3neuron navigator 3 | Nogle gange (5–29 %) | I 1 tilstand |
| NBASNBAS subunit of NRZ tethering complex | Nogle gange (5–29 %) | I 1 tilstand |
| NEBnebulin | Nogle gange (5–29 %) | I 3 tilstande |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Nogle gange (5–29 %) | I 1 tilstand |
| NHLH2nescient helix-loop-helix 2 | Nogle gange (5–29 %) | I 1 tilstand |
| NKX2-6NK2 homeobox 6 | Nogle gange (5–29 %) | I 1 tilstand |
| NONOnon-POU domain containing octamer binding | Nogle gange (5–29 %) | I 1 tilstand |
| NPHP1nephrocystin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NRCAMneuronal cell adhesion molecule | Nogle gange (5–29 %) | I 1 tilstand |
| NSMCE3NSE3 component of SMC5/6 complex | Nogle gange (5–29 %) | I 1 tilstand |
| NSMFNMDA receptor synaptonuclear signaling and neuronal migration factor | Nogle gange (5–29 %) | I 1 tilstand |
| NSRP1nuclear speckle splicing regulatory protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NSUN2NOP2/Sun RNA methyltransferase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| NUP107nucleoporin 107 | Nogle gange (5–29 %) | I 1 tilstand |
| NUP133nucleoporin 133 | Nogle gange (5–29 %) | I 1 tilstand |
| OSGEPO-sialoglycoprotein endopeptidase | Nogle gange (5–29 %) | I 2 tilstande |
| PDGFRBplatelet derived growth factor receptor beta | Nogle gange (5–29 %) | I 1 tilstand |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Nogle gange (5–29 %) | I 2 tilstande |
| PITX2paired like homeodomain 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PLP1proteolipid protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| POLR1BRNA polymerase I subunit B | Nogle gange (5–29 %) | I 1 tilstand |
| POLR1CRNA polymerase I and III subunit C | Nogle gange (5–29 %) | I 1 tilstand |
| POLR1DRNA polymerase I and III subunit D | Nogle gange (5–29 %) | I 1 tilstand |
| PPP1R12Aprotein phosphatase 1 regulatory subunit 12A | Nogle gange (5–29 %) | I 1 tilstand |
| PPP2CAprotein phosphatase 2 catalytic subunit alpha | Nogle gange (5–29 %) | I 1 tilstand |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Nogle gange (5–29 %) | I 1 tilstand |
| PRDM13PR/SET domain 13 | Nogle gange (5–29 %) | I 1 tilstand |
| PRDM5PR/SET domain 5 | Nogle gange (5–29 %) | I 1 tilstand |
| PRKACBprotein kinase cAMP-activated catalytic subunit beta | Nogle gange (5–29 %) | I 1 tilstand |
| PRKG1protein kinase cGMP-dependent 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PROK2prokineticin 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PROKR2prokineticin receptor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PRORPprotein only RNase P catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| PTBP1polypyrimidine tract binding protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PTCH1patched 1 | Nogle gange (5–29 %) | I 3 tilstande |
| PTCH2patched 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PYCR2pyrroline-5-carboxylate reductase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| RAD51RAD51 recombinase | Nogle gange (5–29 %) | I 1 tilstand |
| RAD51CRAD51 paralog C | Nogle gange (5–29 %) | I 1 tilstand |
| RAP1BRAP1B, member of RAS oncogene family | Nogle gange (5–29 %) | I 1 tilstand |
| REREarginine-glutamic acid dipeptide repeats | Nogle gange (5–29 %) | I 1 tilstand |
| RFWD3ring finger and WD repeat domain 3 | Nogle gange (5–29 %) | I 1 tilstand |
| RNF113Aring finger protein 113A | Nogle gange (5–29 %) | I 1 tilstand |
| RPS19ribosomal protein S19 | Nogle gange (5–29 %) | I 2 tilstande |
| RRAGCRas related GTP binding C | Nogle gange (5–29 %) | I 1 tilstand |
| RREB1ras responsive element binding protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RSPO2R-spondin 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SALL4spalt like transcription factor 4 | Nogle gange (5–29 %) | I 2 tilstande |
| SCAPERS-phase cyclin A associated protein in the ER | Nogle gange (5–29 %) | I 1 tilstand |
| SCLT1sodium channel and clathrin linker 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SCYL2SCY1 like pseudokinase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Nogle gange (5–29 %) | I 1 tilstand |
| SEC24CSEC24 homolog C, COPII component | Nogle gange (5–29 %) | I 1 tilstand |
| SEMA3Esemaphorin 3E | Nogle gange (5–29 %) | I 1 tilstand |
| SGSM3small G protein signaling modulator 3 | Nogle gange (5–29 %) | I 1 tilstand |
| SH2B1SH2B adaptor protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC1A4solute carrier family 1 member 4 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC32A1solute carrier family 32 member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC35C1solute carrier family 35 member C1 | Nogle gange (5–29 %) | I 1 tilstand |
| SLX4SLX4 structure-specific endonuclease subunit | Nogle gange (5–29 %) | I 1 tilstand |
| SMAD4SMAD family member 4 | Nogle gange (5–29 %) | I 2 tilstande |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Nogle gange (5–29 %) | I 1 tilstand |
| SMSspermine synthase | Nogle gange (5–29 %) | I 2 tilstande |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Nogle gange (5–29 %) | I 1 tilstand |
| SOX6SRY-box transcription factor 6 | Nogle gange (5–29 %) | I 1 tilstand |
| SPENspen family transcriptional repressor | Nogle gange (5–29 %) | I 1 tilstand |
| SPI1Spi-1 proto-oncogene | Nogle gange (5–29 %) | I 1 tilstand |
| SPINT2serine peptidase inhibitor, Kunitz type 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SPRY4sprouty RTK signaling antagonist 4 | Nogle gange (5–29 %) | I 1 tilstand |
| SPTBN1spectrin beta, non-erythrocytic 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TAC3tachykinin precursor 3 | Nogle gange (5–29 %) | I 1 tilstand |
| TACR3tachykinin receptor 3 | Nogle gange (5–29 %) | I 1 tilstand |
| TAOK1TAO kinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TARS1threonyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TBCBtubulin folding cofactor B | Nogle gange (5–29 %) | I 1 tilstand |
| TBCDtubulin folding cofactor D | Nogle gange (5–29 %) | I 2 tilstande |
| TBX4T-box transcription factor 4 | Nogle gange (5–29 %) | I 1 tilstand |
| TCF12transcription factor 12 | Nogle gange (5–29 %) | I 1 tilstand |
| TCOF1treacle ribosome biogenesis factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TELO2telomere maintenance 2 | Nogle gange (5–29 %) | I 1 tilstand |
| THOC2THO complex subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| THSD4thrombospondin type 1 domain containing 4 | Nogle gange (5–29 %) | I 2 tilstande |
| TMEM138transmembrane protein 138 | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM147transmembrane protein 147 | Nogle gange (5–29 %) | I 1 tilstand |
| TP53RKTP53 regulating kinase | Nogle gange (5–29 %) | I 2 tilstande |
| TPM2tropomyosin 2 | Nogle gange (5–29 %) | I 1 tilstand |
| TPM3tropomyosin 3 | Nogle gange (5–29 %) | I 2 tilstande |
| TRIM32tripartite motif containing 32 | Nogle gange (5–29 %) | I 1 tilstand |
| TRIOtrio Rho guanine nucleotide exchange factor | Nogle gange (5–29 %) | I 2 tilstande |
| TRIP12thyroid hormone receptor interactor 12 | Nogle gange (5–29 %) | I 1 tilstand |
| TTC8tetratricopeptide repeat domain 8 | Nogle gange (5–29 %) | I 1 tilstand |
| UBE2Tubiquitin conjugating enzyme E2 T | Nogle gange (5–29 %) | I 1 tilstand |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Nogle gange (5–29 %) | I 1 tilstand |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Nogle gange (5–29 %) | I 1 tilstand |
| UHRF1ubiquitin like with PHD and ring finger domains 1 | Nogle gange (5–29 %) | I 1 tilstand |
| WACWW domain containing adaptor with coiled-coil | Nogle gange (5–29 %) | I 2 tilstande |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Nogle gange (5–29 %) | I 1 tilstand |
| WDPCPWD repeat containing planar cell polarity effector | Nogle gange (5–29 %) | I 1 tilstand |
| WDR11WD repeat domain 11 | Nogle gange (5–29 %) | I 1 tilstand |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| WDR73WD repeat domain 73 | Nogle gange (5–29 %) | I 2 tilstande |
| WDR83OSWD repeat domain 83 opposite strand | Nogle gange (5–29 %) | I 1 tilstand |
| WSB2WD repeat and SOCS box containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| XRCC2X-ray repair cross complementing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| YRDCyrdC N6-threonylcarbamoyltransferase domain containing | Nogle gange (5–29 %) | I 1 tilstand |
| ZBTB24zinc finger and BTB domain containing 24 | Nogle gange (5–29 %) | I 2 tilstande |
| ZEB2zinc finger E-box binding homeobox 2 | Nogle gange (5–29 %) | I 3 tilstande |
| ZFXzinc finger protein X-linked | Nogle gange (5–29 %) | I 1 tilstand |
| ZIC1Zic family zinc finger 1 | Nogle gange (5–29 %) | I 2 tilstande |
| ZMYM2zinc finger MYM-type containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ZMYND11zinc finger MYND-type containing 11 | Nogle gange (5–29 %) | I 1 tilstand |
| ZNF462zinc finger protein 462 | Nogle gange (5–29 %) | I 1 tilstand |
| ZNF469zinc finger protein 469 | Nogle gange (5–29 %) | I 1 tilstand |
| ZNF526zinc finger protein 526 | Nogle gange (5–29 %) | I 1 tilstand |
| ZNF699zinc finger protein 699 | Nogle gange (5–29 %) | I 1 tilstand |
| ZRSR2zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ACY1aminoacylase 1 | Sjældent (1–4%) | I 2 tilstande |
| ADA2adenosine deaminase 2 | Sjældent (1–4%) | I 1 tilstand |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Sjældent (1–4%) | I 1 tilstand |
| FOXF1forkhead box F1 | 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 |
| HEPACAMhepatic and glial cell adhesion molecule | Sjældent (1–4%) | I 1 tilstand |
| RNU4-2RNA, U4 small nuclear 2 | 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 2 tilstande |
| 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 |
| RPS20ribosomal protein S20 | Sjældent (1–4%) | I 1 tilstand |
| RPS24ribosomal protein S24 | Sjældent (1–4%) | I 1 tilstand |
| RPS26ribosomal protein S26 | 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 2 tilstande |
| TSR2TSR2 ribosome maturation factor | Sjældent (1–4%) | I 1 tilstand |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Ikke registreret | I 1 tilstand |
| AMER1APC membrane recruitment protein 1 | Ikke registreret | I 1 tilstand |
| AP4S1adaptor related protein complex 4 subunit sigma 1 | Ikke registreret | I 1 tilstand |
| AVParginine vasopressin | Ikke registreret | I 1 tilstand |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Ikke registreret | I 1 tilstand |
| BLTP1bridge-like lipid transfer protein family member 1 | 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 |
| CDK10cyclin dependent kinase 10 | Ikke registreret | I 1 tilstand |
| CENPFcentromere protein F | 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 |
| CHSY1chondroitin sulfate synthase 1 | Ikke registreret | I 1 tilstand |
| CITcitron rho-interacting serine/threonine kinase | Ikke registreret | I 1 tilstand |
| CNTN1contactin 1 | Ikke registreret | I 1 tilstand |
| COL27A1collagen type XXVII alpha 1 chain | Ikke registreret | I 1 tilstand |
| CTU2cytosolic thiouridylase subunit 2 | Ikke registreret | I 1 tilstand |
| DDX3XDEAD-box helicase 3 X-linked | Ikke registreret | I 1 tilstand |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Ikke registreret | I 1 tilstand |
| DOCK6dedicator of cytokinesis 6 | Ikke registreret | I 1 tilstand |
| EIF2AK3eukaryotic translation initiation factor 2 alpha kinase 3 | Ikke registreret | I 1 tilstand |
| EXOSC9exosome component 9 | Ikke registreret | I 1 tilstand |
| FAM20CFAM20C golgi associated secretory pathway kinase | Ikke registreret | I 1 tilstand |
| FLCNfolliculin | Ikke registreret | I 1 tilstand |
| GALNT2polypeptide N-acetylgalactosaminyltransferase 2 | Ikke registreret | I 1 tilstand |
| GBA1glucosylceramidase beta 1 | Ikke registreret | I 1 tilstand |
| GKglycerol kinase | Ikke registreret | I 1 tilstand |
| GLB1galactosidase beta 1 | Ikke registreret | I 1 tilstand |
| HDAC8histone deacetylase 8 | Ikke registreret | I 1 tilstand |
| HRASHRas proto-oncogene, GTPase | Ikke registreret | I 2 tilstande |
| IL1RAPL1interleukin 1 receptor accessory protein like 1 | Ikke registreret | I 1 tilstand |
| INTUinturned planar cell polarity protein | Ikke registreret | I 1 tilstand |
| ITGA3integrin subunit alpha 3 | Ikke registreret | I 1 tilstand |
| KATNIPkatanin interacting protein | Ikke registreret | I 1 tilstand |
| KNL1kinetochore scaffold 1 | Ikke registreret | I 1 tilstand |
| LRPPRCleucine rich pentatricopeptide repeat containing | Ikke registreret | I 1 tilstand |
| MED13mediator complex subunit 13 | Ikke registreret | I 1 tilstand |
| MEF2Cmyocyte enhancer factor 2C | Ikke registreret | I 1 tilstand |
| MMP2matrix metallopeptidase 2 | Ikke registreret | I 1 tilstand |
| MOCS1molybdenum cofactor synthesis 1 | Ikke registreret | I 1 tilstand |
| MOCS2molybdenum cofactor synthesis 2 | Ikke registreret | I 1 tilstand |
| NEK1NIMA related kinase 1 | Ikke registreret | I 1 tilstand |
| NKX3-2NK3 homeobox 2 | Ikke registreret | I 1 tilstand |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Ikke registreret | I 1 tilstand |
| PDHXpyruvate dehydrogenase complex component X | Ikke registreret | I 1 tilstand |
| PEX2peroxisomal biogenesis factor 2 | Ikke registreret | I 1 tilstand |
| PEX3peroxisomal biogenesis factor 3 | Ikke registreret | I 1 tilstand |
| PEX5peroxisomal biogenesis factor 5 | Ikke registreret | I 1 tilstand |
| PHGDHphosphoglycerate dehydrogenase | Ikke registreret | I 1 tilstand |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Ikke registreret | I 1 tilstand |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Ikke registreret | I 1 tilstand |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Ikke registreret | I 1 tilstand |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Ikke registreret | I 1 tilstand |
| RSRC1arginine and serine rich coiled-coil 1 | Ikke registreret | I 1 tilstand |
| SEC24DSEC24 homolog D, COPII component | Ikke registreret | I 1 tilstand |
| SLC45A1solute carrier family 45 member 1 | Ikke registreret | I 1 tilstand |
| SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1 | Ikke registreret | I 1 tilstand |
| SOSTsclerostin | Ikke registreret | I 2 tilstande |
| 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 |
| STAT3signal transducer and activator of transcription 3 | Ikke registreret | I 1 tilstand |
| TAPT1transmembrane anterior posterior transformation 1 | Ikke registreret | I 1 tilstand |
| TDO2tryptophan 2,3-dioxygenase | Ikke registreret | I 1 tilstand |
| TENM3teneurin transmembrane protein 3 | Ikke registreret | I 1 tilstand |
| TFAP2Atranscription factor AP-2 alpha | Ikke registreret | I 1 tilstand |
| THRAthyroid hormone receptor alpha | Ikke registreret | I 1 tilstand |
| THUMPD1THUMP domain 1 NAT10 acetyltransferase adaptor | Ikke registreret | I 1 tilstand |
| TMEM94transmembrane protein 94 | Ikke registreret | I 1 tilstand |
| TONSLtonsoku like, DNA repair protein | Ikke registreret | I 1 tilstand |
| TRIM37tripartite motif containing 37 | Ikke registreret | I 1 tilstand |
| TRRAPtransformation/transcription domain associated protein | Ikke registreret | I 1 tilstand |
| VPS51VPS51 subunit of GARP complex | Ikke registreret | I 1 tilstand |
| WNK3WNK lysine deficient protein kinase 3 | Ikke registreret | I 1 tilstand |
| ZIC2Zic family zinc finger 2 | Ikke registreret | I 1 tilstand |
| ZIC3Zic family zinc finger 3 | Ikke registreret | I 1 tilstand |
| 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