Træk
Eye folds
Klinisk navn: Epicanthus
A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus.
Resumé
- Også kaldet
- Prominent eye folds, Epicanthal fold, Epicanthal folds, Epicanthic folds, Palpebronasal fold, Plica palpebronasalis
- Kropssystem
- Abnormality of head or neck
ReferencegenomGRCh38hg38
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Bestil min Genome Test652 gener knyttet til Eye folds
Ændringer i disse gener forårsager sjældne tilstande, hvor Eye folds 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 |
|---|---|---|
| ADAMTS2ADAM metallopeptidase with thrombospondin type 1 motif 2 | Altid | I 2 tilstande |
| AGO1argonaute RISC component 1 | Altid | I 1 tilstand |
| AHDC1AT-hook DNA binding motif containing 1 | Altid | I 1 tilstand |
| ALDH6A1aldehyde dehydrogenase 6 family member A1 | Altid | I 1 tilstand |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Altid | I 2 tilstande |
| AMOTL1angiomotin like 1 | Altid | I 1 tilstand |
| AP3B1adaptor related protein complex 3 subunit beta 1 | Altid | I 1 tilstand |
| ASPMassembly factor for spindle microtubules | Altid | I 1 tilstand |
| ASXL3ASXL transcriptional regulator 3 | Altid | I 1 tilstand |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Altid | I 2 tilstande |
| ATRXATRX chromatin remodeler | Altid | I 3 tilstande |
| CCDC88Acoiled-coil and HOOK domain protein 88A | Altid | I 1 tilstand |
| CCT3chaperonin containing TCP1 subunit 3 | Altid | I 1 tilstand |
| CDK10cyclin dependent kinase 10 | Altid | I 1 tilstand |
| COA3cytochrome c oxidase assembly factor 3 | Altid | I 1 tilstand |
| COQ4coenzyme Q4 | Altid | I 1 tilstand |
| CRNKL1crooked neck pre-mRNA splicing factor 1 | Altid | I 1 tilstand |
| DAND5DAN domain BMP antagonist family member 5 | Altid | I 1 tilstand |
| DDX11DEAD/H-box helicase 11 | Altid | I 1 tilstand |
| DHCR77-dehydrocholesterol reductase | Altid | I 2 tilstande |
| DHX9DExH-box helicase 9 | Altid | I 1 tilstand |
| DMXL2Dmx like 2 | Altid | I 1 tilstand |
| DNMT3ADNA methyltransferase 3 alpha | Altid | I 2 tilstande |
| DPH1diphthamide biosynthesis 1 | Altid | I 2 tilstande |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Altid | I 1 tilstand |
| EIF4A2eukaryotic translation initiation factor 4A2 | Altid | I 1 tilstand |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Altid | I 1 tilstand |
| ERI1exoribonuclease 1 | Altid | I 1 tilstand |
| FANCCFA complementation group C | Altid | I 2 tilstande |
| FAT4FAT atypical cadherin 4 | Altid | I 4 tilstande |
| FGFR1fibroblast growth factor receptor 1 | Altid | I 2 tilstande |
| FIG4FIG4 phosphoinositide 5-phosphatase | Altid | I 1 tilstand |
| FKBP14FKBP prolyl isomerase 14 | Altid | I 1 tilstand |
| GUSBglucuronidase beta | Altid | I 1 tilstand |
| IFT140intraflagellar transport 140 | Altid | I 2 tilstande |
| INTS11integrator complex subunit 11 | Altid | I 1 tilstand |
| JKAMPJNK1/MAPK8 associated membrane protein | Altid | I 1 tilstand |
| KDM6Blysine demethylase 6B | Altid | I 1 tilstand |
| KIAA0753KIAA0753 | Altid | I 2 tilstande |
| LIG4DNA ligase 4 | Altid | I 2 tilstande |
Vis 612 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| MAP1Bmicrotubule associated protein 1B | Altid | I 1 tilstand |
| MAP2K2mitogen-activated protein kinase kinase 2 | Altid | I 3 tilstande |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Altid | I 1 tilstand |
| MARS1methionyl-tRNA synthetase 1 | Altid | I 1 tilstand |
| MED12mediator complex subunit 12 | Altid | I 2 tilstande |
| MICU1mitochondrial calcium uptake 1 | Altid | I 1 tilstand |
| MRPL12mitochondrial ribosomal protein L12 | Altid | I 1 tilstand |
| MTSS2MTSS I-BAR domain containing 2 | Altid | I 1 tilstand |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Altid | I 2 tilstande |
| NAA80N-alpha-acetyltransferase 80, NatH catalytic subunit | Altid | I 1 tilstand |
| NSD1nuclear receptor binding SET domain protein 1 | Altid | I 2 tilstande |
| NSD2nuclear receptor binding SET domain protein 2 | Altid | I 3 tilstande |
| NUP188nucleoporin 188 | Altid | I 1 tilstand |
| PALB2partner and localizer of BRCA2 | Altid | I 2 tilstande |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Altid | I 1 tilstand |
| PEX19peroxisomal biogenesis factor 19 | Altid | I 2 tilstande |
| POLR1ARNA polymerase I subunit A | Altid | I 1 tilstand |
| PPP2R3Cprotein phosphatase 2 regulatory subunit B''gamma | Altid | I 2 tilstande |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Altid | I 1 tilstand |
| RECQL4RecQ like helicase 4 | Altid | I 3 tilstande |
| RIN2Ras and Rab interactor 2 | Altid | I 1 tilstand |
| RNU2-2RNA, U2 small nuclear 2 | Altid | I 1 tilstand |
| RPL17ribosomal protein L17 | Altid | I 1 tilstand |
| RPS23ribosomal protein S23 | Altid | I 1 tilstand |
| RSPRY1ring finger and SPRY domain containing 1 | Altid | I 2 tilstande |
| SC5Dsterol-C5-desaturase | Altid | I 2 tilstande |
| SLC13A1solute carrier family 13 member 1 | Altid | I 1 tilstand |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Altid | I 1 tilstand |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Altid | I 1 tilstand |
| TASP1taspase 1 | Altid | I 1 tilstand |
| TPRKBTP53RK binding protein | Altid | I 1 tilstand |
| TUBBtubulin beta class I | Altid | I 2 tilstande |
| UBAP2Lubiquitin associated protein 2 like | Altid | I 1 tilstand |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Altid | I 1 tilstand |
| UQCC2ubiquinol-cytochrome c reductase complex assembly factor 2 | Altid | I 1 tilstand |
| VDRvitamin D receptor | Altid | I 1 tilstand |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Altid | I 2 tilstande |
| VPS51VPS51 subunit of GARP complex | Altid | I 1 tilstand |
| VPS53VPS53 subunit of GARP complex | Altid | I 1 tilstand |
| WT1WT1 transcription factor | Altid | I 1 tilstand |
| WWOXWW domain containing oxidoreductase | Altid | I 1 tilstand |
| ZNF148zinc finger protein 148 | Altid | I 1 tilstand |
| ZNF407zinc finger protein 407 | Altid | I 1 tilstand |
| ACTBactin beta | Meget ofte (80–99 %) | I 3 tilstande |
| ACTG1actin gamma 1 | Meget ofte (80–99 %) | I 1 tilstand |
| ALX4ALX homeobox 4 | Meget ofte (80–99 %) | I 1 tilstand |
| ARVCFARVCF delta catenin family member | Meget ofte (80–99 %) | I 1 tilstand |
| B4GALT7beta-1,4-galactosyltransferase 7 | Meget ofte (80–99 %) | I 1 tilstand |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Meget ofte (80–99 %) | I 1 tilstand |
| BCL11ABCL11 transcription factor A | Meget ofte (80–99 %) | I 2 tilstande |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Meget ofte (80–99 %) | I 2 tilstande |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Meget ofte (80–99 %) | I 2 tilstande |
| BUB3BUB3 mitotic checkpoint protein | Meget ofte (80–99 %) | I 1 tilstand |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Meget ofte (80–99 %) | I 1 tilstand |
| CD96CD96 molecule | Meget ofte (80–99 %) | I 2 tilstande |
| CEP57centrosomal protein 57 | Meget ofte (80–99 %) | I 2 tilstande |
| CLIP2CAP-Gly domain containing linker protein 2 | Meget ofte (80–99 %) | I 1 tilstand |
| CNTNAP1contactin associated protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| COMTcatechol-O-methyltransferase | Meget ofte (80–99 %) | I 1 tilstand |
| CPLX1complexin 1 | Meget ofte (80–99 %) | I 2 tilstande |
| CTBP1C-terminal binding protein 1 | Meget ofte (80–99 %) | I 2 tilstande |
| CTNND2catenin delta 2 | Meget ofte (80–99 %) | I 1 tilstand |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Meget ofte (80–99 %) | I 1 tilstand |
| DPH5diphthamide biosynthesis 5 | Meget ofte (80–99 %) | I 1 tilstand |
| EIF4Heukaryotic translation initiation factor 4H | Meget ofte (80–99 %) | I 1 tilstand |
| ELNelastin | Meget ofte (80–99 %) | I 2 tilstande |
| EXT2exostosin glycosyltransferase 2 | Meget ofte (80–99 %) | I 1 tilstand |
| FGF20fibroblast growth factor 20 | Meget ofte (80–99 %) | I 1 tilstand |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Meget ofte (80–99 %) | I 1 tilstand |
| FOXG1forkhead box G1 | Meget ofte (80–99 %) | I 1 tilstand |
| GFRA1GDNF family receptor alpha 1 | Meget ofte (80–99 %) | I 1 tilstand |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Meget ofte (80–99 %) | I 2 tilstande |
| GP1BBglycoprotein Ib platelet subunit beta | Meget ofte (80–99 %) | I 1 tilstand |
| GREB1LGREB1 like retinoic acid receptor coactivator | Meget ofte (80–99 %) | I 1 tilstand |
| GTF2Igeneral transcription factor IIi | Meget ofte (80–99 %) | I 1 tilstand |
| GTF2IRD1GTF2I repeat domain containing 1 | Meget ofte (80–99 %) | I 1 tilstand |
| GTF2IRD2GTF2I repeat domain containing 2 | Meget ofte (80–99 %) | I 1 tilstand |
| HIC1HIC ZBTB transcriptional repressor 1 | Meget ofte (80–99 %) | I 1 tilstand |
| HIRAhistone cell cycle regulator | Meget ofte (80–99 %) | I 1 tilstand |
| IFT122intraflagellar transport 122 | Meget ofte (80–99 %) | I 2 tilstande |
| IFT43intraflagellar transport 43 | Meget ofte (80–99 %) | I 2 tilstande |
| IFT52intraflagellar transport 52 | Meget ofte (80–99 %) | I 1 tilstand |
| ITGA8integrin subunit alpha 8 | Meget ofte (80–99 %) | I 1 tilstand |
| JMJD1Cjumonji domain containing 1C | Meget ofte (80–99 %) | I 1 tilstand |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Meget ofte (80–99 %) | I 2 tilstande |
| LIMK1LIM domain kinase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| LONP1lon peptidase 1, mitochondrial | Meget ofte (80–99 %) | I 1 tilstand |
| MECP2methyl-CpG binding protein 2 | Meget ofte (80–99 %) | I 2 tilstande |
| MEGF8multiple EGF like domains 8 | Meget ofte (80–99 %) | I 2 tilstande |
| METTL27methyltransferase like 27 | Meget ofte (80–99 %) | I 1 tilstand |
| MYMKmyomaker, myoblast fusion factor | Meget ofte (80–99 %) | I 2 tilstande |
| MYMXmyomixer, myoblast fusion factor | Meget ofte (80–99 %) | I 1 tilstand |
| NCF1neutrophil cytosolic factor 1 | Meget ofte (80–99 %) | I 1 tilstand |
| NELFAnegative elongation factor complex member A | Meget ofte (80–99 %) | I 1 tilstand |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Meget ofte (80–99 %) | I 2 tilstande |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Meget ofte (80–99 %) | I 1 tilstand |
| PEX1peroxisomal biogenesis factor 1 | Meget ofte (80–99 %) | I 3 tilstande |
| PEX10peroxisomal biogenesis factor 10 | Meget ofte (80–99 %) | I 1 tilstand |
| PEX11Bperoxisomal biogenesis factor 11 beta | Meget ofte (80–99 %) | I 1 tilstand |
| PEX12peroxisomal biogenesis factor 12 | Meget ofte (80–99 %) | I 1 tilstand |
| PEX13peroxisomal biogenesis factor 13 | Meget ofte (80–99 %) | I 1 tilstand |
| PEX14peroxisomal biogenesis factor 14 | Meget ofte (80–99 %) | I 1 tilstand |
| PEX16peroxisomal biogenesis factor 16 | Meget ofte (80–99 %) | I 1 tilstand |
| PEX2peroxisomal biogenesis factor 2 | Meget ofte (80–99 %) | I 2 tilstande |
| PEX26peroxisomal biogenesis factor 26 | Meget ofte (80–99 %) | I 1 tilstand |
| PEX3peroxisomal biogenesis factor 3 | Meget ofte (80–99 %) | I 2 tilstande |
| PEX5peroxisomal biogenesis factor 5 | Meget ofte (80–99 %) | I 3 tilstande |
| PEX6peroxisomal biogenesis factor 6 | Meget ofte (80–99 %) | I 1 tilstand |
| PHF21APHD finger protein 21A | Meget ofte (80–99 %) | I 1 tilstand |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Meget ofte (80–99 %) | I 1 tilstand |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Meget ofte (80–99 %) | I 3 tilstande |
| PTCH1patched 1 | Meget ofte (80–99 %) | I 2 tilstande |
| RAB23RAB23, member RAS oncogene family | Meget ofte (80–99 %) | I 2 tilstande |
| RELREL proto-oncogene, NF-kB subunit | Meget ofte (80–99 %) | I 1 tilstand |
| RETret proto-oncogene | Meget ofte (80–99 %) | I 1 tilstand |
| RFC2replication factor C subunit 2 | Meget ofte (80–99 %) | I 1 tilstand |
| RPS6KA3ribosomal protein S6 kinase A3 | Meget ofte (80–99 %) | I 1 tilstand |
| RREB1ras responsive element binding protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| RYR1ryanodine receptor 1 | Meget ofte (80–99 %) | I 1 tilstand |
| SEC24CSEC24 homolog C, COPII component | Meget ofte (80–99 %) | I 1 tilstand |
| SEMA5Asemaphorin 5A | Meget ofte (80–99 %) | I 1 tilstand |
| SIAH1siah E3 ubiquitin protein ligase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| SLC25A24solute carrier family 25 member 24 | Meget ofte (80–99 %) | I 1 tilstand |
| STX1Asyntaxin 1A | Meget ofte (80–99 %) | I 1 tilstand |
| TBL2transducin beta like 2 | Meget ofte (80–99 %) | I 1 tilstand |
| TBX1T-box transcription factor 1 | Meget ofte (80–99 %) | I 2 tilstande |
| TMEM270transmembrane protein 270 | Meget ofte (80–99 %) | I 1 tilstand |
| TRIP13thyroid hormone receptor interactor 13 | Meget ofte (80–99 %) | I 1 tilstand |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Meget ofte (80–99 %) | I 1 tilstand |
| VPS37DVPS37D subunit of ESCRT-I | Meget ofte (80–99 %) | I 1 tilstand |
| WDR19WD repeat domain 19 | Meget ofte (80–99 %) | I 2 tilstande |
| WDR35WD repeat domain 35 | Meget ofte (80–99 %) | I 4 tilstande |
| WNT9BWnt family member 9B | Meget ofte (80–99 %) | I 1 tilstand |
| XPO1exportin 1 | 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 |
| ZBTB20zinc finger and BTB domain containing 20 | Meget ofte (80–99 %) | I 1 tilstand |
| ZNHIT3zinc finger HIT-type containing 3 | Meget ofte (80–99 %) | I 2 tilstande |
| ABCC9ATP binding cassette subfamily C member 9 | Ofte (30–79 %) | I 2 tilstande |
| ACOX1acyl-CoA oxidase 1 | Ofte (30–79 %) | I 2 tilstande |
| ADAMTS3ADAM metallopeptidase with thrombospondin type 1 motif 3 | Ofte (30–79 %) | I 1 tilstand |
| ADAMTSL2ADAMTS like 2 | Ofte (30–79 %) | I 1 tilstand |
| ADAT3adenosine deaminase tRNA specific 3 | Ofte (30–79 %) | I 2 tilstande |
| AFF2ALF transcription elongation factor 2 | Ofte (30–79 %) | I 2 tilstande |
| AGO2argonaute RISC catalytic component 2 | Ofte (30–79 %) | I 1 tilstand |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Ofte (30–79 %) | I 2 tilstande |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Ofte (30–79 %) | I 1 tilstand |
| ALX1ALX homeobox 1 | Ofte (30–79 %) | I 1 tilstand |
| ALX3ALX homeobox 3 | Ofte (30–79 %) | I 2 tilstande |
| ANTXR1ANTXR cell adhesion molecule 1 | Ofte (30–79 %) | I 1 tilstand |
| AP1G1adaptor related protein complex 1 subunit gamma 1 | Ofte (30–79 %) | I 1 tilstand |
| ARID1BAT-rich interaction domain 1B | Ofte (30–79 %) | I 1 tilstand |
| ARID2AT-rich interaction domain 2 | Ofte (30–79 %) | I 1 tilstand |
| ASXL2ASXL transcriptional regulator 2 | Ofte (30–79 %) | I 1 tilstand |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Ofte (30–79 %) | I 1 tilstand |
| ATP9AATPase phospholipid transporting 9A | Ofte (30–79 %) | I 1 tilstand |
| ATXN7L3ataxin 7 like 3 | Ofte (30–79 %) | I 1 tilstand |
| AUTS2activator of transcription and developmental regulator AUTS2 | Ofte (30–79 %) | I 2 tilstande |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Ofte (30–79 %) | I 1 tilstand |
| BMP2bone morphogenetic protein 2 | Ofte (30–79 %) | I 1 tilstand |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Ofte (30–79 %) | I 3 tilstande |
| BRPF1bromodomain and PHD finger containing 1 | Ofte (30–79 %) | I 1 tilstand |
| CASZ1castor zinc finger 1 | Ofte (30–79 %) | I 1 tilstand |
| CBLCbl proto-oncogene | Ofte (30–79 %) | I 1 tilstand |
| CCBE1collagen and calcium binding EGF domains 1 | Ofte (30–79 %) | I 2 tilstande |
| CERT1ceramide transporter 1 | Ofte (30–79 %) | I 1 tilstand |
| CHAMP1chromosome alignment maintaining phosphoprotein 1 | Ofte (30–79 %) | I 1 tilstand |
| CHRNGcholinergic receptor nicotinic gamma subunit | Ofte (30–79 %) | I 3 tilstande |
| CLCN7Cl-/H+ antiporter 7 | Ofte (30–79 %) | I 1 tilstand |
| COG8component of oligomeric golgi complex 8 | Ofte (30–79 %) | I 1 tilstand |
| COL1A1collagen type I alpha 1 chain | Ofte (30–79 %) | I 2 tilstande |
| COL1A2collagen type I alpha 2 chain | Ofte (30–79 %) | I 1 tilstand |
| COL9A1collagen type IX alpha 1 chain | Ofte (30–79 %) | I 1 tilstand |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Ofte (30–79 %) | I 2 tilstande |
| CREBBPCREB binding lysine acetyltransferase | Ofte (30–79 %) | I 3 tilstande |
| CSNK2A1casein kinase 2 alpha 1 | Ofte (30–79 %) | I 1 tilstand |
| DDB1damage specific DNA binding protein 1 | Ofte (30–79 %) | I 1 tilstand |
| DDX6DEAD-box helicase 6 | Ofte (30–79 %) | I 1 tilstand |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Ofte (30–79 %) | I 1 tilstand |
| DLX4distal-less homeobox 4 | Ofte (30–79 %) | I 1 tilstand |
| DVL1dishevelled segment polarity protein 1 | Ofte (30–79 %) | I 3 tilstande |
| DVL3dishevelled segment polarity protein 3 | Ofte (30–79 %) | I 2 tilstande |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Ofte (30–79 %) | I 1 tilstand |
| DYNC2I1dynein 2 intermediate chain 1 | Ofte (30–79 %) | I 1 tilstand |
| DYNC2I2dynein 2 intermediate chain 2 | Ofte (30–79 %) | I 1 tilstand |
| DYNC2LI1dynein cytoplasmic 2 light intermediate chain 1 | Ofte (30–79 %) | I 1 tilstand |
| EDEM3ER degradation enhancing alpha-mannosidase like protein 3 | Ofte (30–79 %) | I 1 tilstand |
| EFTUD2elongation factor Tu GTP binding domain containing 2 | Ofte (30–79 %) | I 2 tilstande |
| EIF5Aeukaryotic translation initiation factor 5A | Ofte (30–79 %) | I 1 tilstand |
| EMILIN1elastin microfibril interfacer 1 | Ofte (30–79 %) | I 1 tilstand |
| EP300EP300 lysine acetyltransferase | Ofte (30–79 %) | I 3 tilstande |
| FAM149B1family with sequence similarity 149 member B1 | Ofte (30–79 %) | I 1 tilstand |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Ofte (30–79 %) | I 1 tilstand |
| FDFT1farnesyl-diphosphate farnesyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| FEM1Bfem-1 homolog B | Ofte (30–79 %) | I 1 tilstand |
| FGF10fibroblast growth factor 10 | Ofte (30–79 %) | I 1 tilstand |
| FGFRL1fibroblast growth factor receptor like 1 | Ofte (30–79 %) | I 1 tilstand |
| FILIP1filamin A interacting protein 1 | Ofte (30–79 %) | I 1 tilstand |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Ofte (30–79 %) | I 1 tilstand |
| FLNAfilamin A | Ofte (30–79 %) | I 2 tilstande |
| FZD2frizzled class receptor 2 | Ofte (30–79 %) | I 1 tilstand |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Ofte (30–79 %) | I 1 tilstand |
| GATA4GATA binding protein 4 | Ofte (30–79 %) | I 1 tilstand |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Ofte (30–79 %) | I 3 tilstande |
| GPC3glypican 3 | Ofte (30–79 %) | I 2 tilstande |
| GPC4glypican 4 | Ofte (30–79 %) | I 2 tilstande |
| GPT2glutamic--pyruvic transaminase 2 | 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 |
| HIBCH3-hydroxyisobutyryl-CoA hydrolase | Ofte (30–79 %) | I 2 tilstande |
| HNRNPUheterogeneous nuclear ribonucleoprotein U | Ofte (30–79 %) | I 1 tilstand |
| HOXB1homeobox B1 | Ofte (30–79 %) | I 1 tilstand |
| HRASHRas proto-oncogene, GTPase | Ofte (30–79 %) | I 2 tilstande |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Ofte (30–79 %) | I 1 tilstand |
| HSPG2heparan sulfate proteoglycan 2 | Ofte (30–79 %) | I 1 tilstand |
| IFT80intraflagellar transport 80 | Ofte (30–79 %) | I 1 tilstand |
| INTS1integrator complex subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| KAT6Alysine acetyltransferase 6A | Ofte (30–79 %) | I 2 tilstande |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Ofte (30–79 %) | I 2 tilstande |
| KCNJ8potassium inwardly rectifying channel subfamily J member 8 | Ofte (30–79 %) | I 1 tilstand |
| KDM6Alysine demethylase 6A | Ofte (30–79 %) | I 2 tilstande |
| KIF7kinesin family member 7 | Ofte (30–79 %) | I 2 tilstande |
| KMT2Alysine methyltransferase 2A | Ofte (30–79 %) | I 2 tilstande |
| KMT2Blysine methyltransferase 2B | Ofte (30–79 %) | I 1 tilstand |
| KRASKRas proto-oncogene, GTPase | Ofte (30–79 %) | I 5 tilstande |
| LGI1leucine rich glioma inactivated 1 | Ofte (30–79 %) | I 1 tilstand |
| LUZP1leucine zipper protein 1 | Ofte (30–79 %) | I 1 tilstand |
| LZTR1leucine zipper like post translational regulator 1 | Ofte (30–79 %) | I 2 tilstande |
| MAP2K1mitogen-activated protein kinase kinase 1 | Ofte (30–79 %) | I 3 tilstande |
| MAPRE2microtubule associated protein RP/EB family member 2 | Ofte (30–79 %) | I 2 tilstande |
| MED25mediator complex subunit 25 | Ofte (30–79 %) | I 2 tilstande |
| MLXIPLMLX interacting protein like | Ofte (30–79 %) | I 1 tilstand |
| MMP23Bmatrix metallopeptidase 23B | Ofte (30–79 %) | I 1 tilstand |
| MSL3MSL complex subunit 3 | Ofte (30–79 %) | I 1 tilstand |
| MYH3myosin heavy chain 3 | Ofte (30–79 %) | I 2 tilstande |
| NBASNBAS subunit of NRZ tethering complex | Ofte (30–79 %) | I 1 tilstand |
| NCDNneurochondrin | Ofte (30–79 %) | I 1 tilstand |
| NF1neurofibromin 1 | Ofte (30–79 %) | I 3 tilstande |
| NFIXnuclear factor I X | Ofte (30–79 %) | I 1 tilstand |
| NKX2-5NK2 homeobox 5 | Ofte (30–79 %) | I 1 tilstand |
| NXNnucleoredoxin | Ofte (30–79 %) | I 1 tilstand |
| OFD1OFD1 centriole and centriolar satellite protein | Ofte (30–79 %) | I 4 tilstande |
| PDE6Dphosphodiesterase 6D | Ofte (30–79 %) | I 1 tilstand |
| PDPNpodoplanin | Ofte (30–79 %) | I 1 tilstand |
| PIEZO1piezo type mechanosensitive ion channel component 1 (Er blood group) | Ofte (30–79 %) | I 1 tilstand |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Ofte (30–79 %) | I 2 tilstande |
| PMM2phosphomannomutase 2 | Ofte (30–79 %) | I 1 tilstand |
| POGZpogo transposable element derived with ZNF domain | 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 |
| PQBP1polyglutamine binding protein 1 | Ofte (30–79 %) | I 2 tilstande |
| PRDM13PR/SET domain 13 | Ofte (30–79 %) | I 2 tilstande |
| PRDM16PR/SET domain 16 | Ofte (30–79 %) | I 1 tilstand |
| PREPLprolyl endopeptidase like | Ofte (30–79 %) | I 1 tilstand |
| PRKAR1Bprotein kinase cAMP-dependent type I regulatory subunit beta | Ofte (30–79 %) | I 1 tilstand |
| PRKCZprotein kinase C zeta | Ofte (30–79 %) | I 1 tilstand |
| PTBP1polypyrimidine tract binding protein 1 | Ofte (30–79 %) | I 1 tilstand |
| PTENphosphatase and tensin homolog | Ofte (30–79 %) | I 1 tilstand |
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Ofte (30–79 %) | I 1 tilstand |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Ofte (30–79 %) | I 2 tilstande |
| PUF60poly(U) binding splicing factor 60 | Ofte (30–79 %) | I 1 tilstand |
| PUM1pumilio RNA binding family member 1 | Ofte (30–79 %) | I 1 tilstand |
| QARS1glutaminyl-tRNA synthetase 1 | Ofte (30–79 %) | I 1 tilstand |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Ofte (30–79 %) | I 2 tilstande |
| RB1RB transcriptional corepressor 1 | Ofte (30–79 %) | I 1 tilstand |
| RBSNrabenosyn, RAB effector | Ofte (30–79 %) | I 1 tilstand |
| REREarginine-glutamic acid dipeptide repeats | Ofte (30–79 %) | I 3 tilstande |
| RIC1RIC1 partner of RAB6A GEF complex | Ofte (30–79 %) | I 1 tilstand |
| RIT1Ras like without CAAX 1 | Ofte (30–79 %) | I 1 tilstand |
| RNU4-2RNA, U4 small nuclear 2 | Ofte (30–79 %) | I 1 tilstand |
| ROR2ROR family WNT receptor 2 | Ofte (30–79 %) | I 2 tilstande |
| RYR3ryanodine receptor 3 | Ofte (30–79 %) | I 1 tilstand |
| SCNM1sodium channel modifier 1 | Ofte (30–79 %) | I 1 tilstand |
| SETD1ASET domain containing 1A, histone lysine methyltransferase | Ofte (30–79 %) | I 1 tilstand |
| SETD5SET domain containing 5 | Ofte (30–79 %) | I 1 tilstand |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Ofte (30–79 %) | I 1 tilstand |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Ofte (30–79 %) | I 2 tilstande |
| SHROOM4shroom family member 4 | Ofte (30–79 %) | I 1 tilstand |
| SIN3ASIN3 transcription regulator family member A | Ofte (30–79 %) | I 2 tilstande |
| SKISKI proto-oncogene | Ofte (30–79 %) | I 1 tilstand |
| SLC35A2solute carrier family 35 member A2 | Ofte (30–79 %) | I 1 tilstand |
| SLC3A1solute carrier family 3 member 1 | Ofte (30–79 %) | I 1 tilstand |
| SMC3structural maintenance of chromosomes 3 | Ofte (30–79 %) | I 1 tilstand |
| SONSON DNA and RNA binding protein | Ofte (30–79 %) | I 2 tilstande |
| SOX4SRY-box transcription factor 4 | Ofte (30–79 %) | I 1 tilstand |
| SPENspen family transcriptional repressor | Ofte (30–79 %) | I 2 tilstande |
| SPOPspeckle type BTB/POZ protein | Ofte (30–79 %) | I 1 tilstand |
| SPRED2sprouty related EVH1 domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| STAG2STAG2 cohesin complex component | Ofte (30–79 %) | I 1 tilstand |
| TBC1D24TBC1 domain family member 24 | Ofte (30–79 %) | I 2 tilstande |
| TBX2T-box transcription factor 2 | Ofte (30–79 %) | I 1 tilstand |
| TCTN3tectonic family member 3 | Ofte (30–79 %) | I 2 tilstande |
| TEFMtranscription elongation factor, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| TFE3transcription factor binding to IGHM enhancer 3 | Ofte (30–79 %) | I 1 tilstand |
| THOC6THO complex subunit 6 | Ofte (30–79 %) | I 1 tilstand |
| TLK2tousled like kinase 2 | Ofte (30–79 %) | I 1 tilstand |
| TMCO1transmembrane and coiled-coil domains 1 | Ofte (30–79 %) | I 2 tilstande |
| TMEM147transmembrane protein 147 | Ofte (30–79 %) | I 1 tilstand |
| TMEM216transmembrane protein 216 | Ofte (30–79 %) | I 1 tilstand |
| TMEM231transmembrane protein 231 | Ofte (30–79 %) | I 1 tilstand |
| TMEM53transmembrane protein 53 | Ofte (30–79 %) | I 1 tilstand |
| TOE1target of EGR1, exonuclease | Ofte (30–79 %) | I 2 tilstande |
| TOP2BDNA topoisomerase II beta | 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 |
| TRAPPC9trafficking protein particle complex subunit 9 | Ofte (30–79 %) | I 1 tilstand |
| TRIM33tripartite motif containing 33 | Ofte (30–79 %) | I 1 tilstand |
| TWIST2twist family bHLH transcription factor 2 | Ofte (30–79 %) | I 2 tilstande |
| UBE3Bubiquitin protein ligase E3B | Ofte (30–79 %) | I 2 tilstande |
| UBE4Bubiquitination factor E4B | Ofte (30–79 %) | I 1 tilstand |
| WDR37WD repeat domain 37 | Ofte (30–79 %) | I 1 tilstand |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Ofte (30–79 %) | I 1 tilstand |
| WNT5AWnt family member 5A | Ofte (30–79 %) | I 2 tilstande |
| YARS1tyrosyl-tRNA synthetase 1 | Ofte (30–79 %) | I 1 tilstand |
| ZFXzinc finger protein X-linked | Ofte (30–79 %) | I 1 tilstand |
| ZMYM2zinc finger MYM-type containing 2 | Ofte (30–79 %) | I 1 tilstand |
| ZNF462zinc finger protein 462 | Ofte (30–79 %) | I 2 tilstande |
| AARS1alanyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ABCA5ATP binding cassette subfamily A member 5 | Nogle gange (5–29 %) | I 1 tilstand |
| ADNPactivity dependent neuroprotector homeobox | Nogle gange (5–29 %) | I 1 tilstand |
| AMER1APC membrane recruitment protein 1 | Nogle gange (5–29 %) | I 2 tilstande |
| ANK1ankyrin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ASXL1ASXL transcriptional regulator 1 | Nogle gange (5–29 %) | I 1 tilstand |
| BCAS3BCAS3 microtubule associated cell migration factor | Nogle gange (5–29 %) | I 1 tilstand |
| BCL11BBCL11 transcription factor B | Nogle gange (5–29 %) | I 1 tilstand |
| BLNKB cell linker | Nogle gange (5–29 %) | I 1 tilstand |
| BORCS8BLOC-1 related complex subunit 8 | Nogle gange (5–29 %) | I 1 tilstand |
| BPTFbromodomain PHD finger transcription factor | 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 |
| CAMK2Acalcium/calmodulin dependent protein kinase II alpha | Nogle gange (5–29 %) | I 1 tilstand |
| CARS1cysteinyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CCDC47coiled-coil domain containing 47 | 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 |
| CDCA7cell division cycle associated 7 | Nogle gange (5–29 %) | I 2 tilstande |
| CDK13cyclin dependent kinase 13 | Nogle gange (5–29 %) | I 1 tilstand |
| CHD5chromodomain helicase DNA binding protein 5 | Nogle gange (5–29 %) | I 1 tilstand |
| CHD7chromodomain helicase DNA binding protein 7 | Nogle gange (5–29 %) | I 1 tilstand |
| CHD8chromodomain helicase DNA binding protein 8 | Nogle gange (5–29 %) | I 1 tilstand |
| CHRNA7cholinergic receptor nicotinic alpha 7 subunit | Nogle gange (5–29 %) | I 1 tilstand |
| CLCN3Cl-/H+ antiporter 3 | Nogle gange (5–29 %) | I 1 tilstand |
| COG6component of oligomeric golgi complex 6 | Nogle gange (5–29 %) | I 1 tilstand |
| COL18A1collagen type XVIII alpha 1 chain | Nogle gange (5–29 %) | I 2 tilstande |
| COL5A1collagen type V alpha 1 chain | Nogle gange (5–29 %) | I 2 tilstande |
| COL5A2collagen type V alpha 2 chain | Nogle gange (5–29 %) | I 2 tilstande |
| CSF1Rcolony stimulating factor 1 receptor | Nogle gange (5–29 %) | I 1 tilstand |
| CSPP1centrosome and spindle pole associated protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CTCFCCCTC-binding factor | Nogle gange (5–29 %) | I 2 tilstande |
| CTNNB1catenin beta 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CUL4Bcullin 4B | Nogle gange (5–29 %) | I 1 tilstand |
| DBR1debranching RNA lariats 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DCHS1dachsous cadherin-related 1 | Nogle gange (5–29 %) | I 2 tilstande |
| DEAF1DEAF1 transcription factor | Nogle gange (5–29 %) | I 1 tilstand |
| DHCR2424-dehydrocholesterol reductase | Nogle gange (5–29 %) | I 2 tilstande |
| DHX16DEAH-box helicase 16 | Nogle gange (5–29 %) | I 1 tilstand |
| DHX30DExH-box helicase 30 | Nogle gange (5–29 %) | I 1 tilstand |
| DLK1delta like non-canonical Notch ligand 1 | Nogle gange (5–29 %) | I 2 tilstande |
| DNMT3BDNA methyltransferase 3 beta | Nogle gange (5–29 %) | I 2 tilstande |
| DOT1LDOT1 like histone lysine methyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| DPF2double PHD fingers 2 | Nogle gange (5–29 %) | I 1 tilstand |
| DPH2diphthamide biosynthesis 2 | Nogle gange (5–29 %) | I 1 tilstand |
| EBF3EBF transcription factor 3 | Nogle gange (5–29 %) | I 1 tilstand |
| 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 |
| FAAP100FA core complex associated protein 100 | 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 |
| FANCD2FA complementation group D2 | Nogle gange (5–29 %) | I 1 tilstand |
| 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 |
| FANCLFA complementation group L | 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 |
| FERRY3FERRY endosomal RAB5 effector complex subunit 3 | Nogle gange (5–29 %) | I 1 tilstand |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Nogle gange (5–29 %) | I 1 tilstand |
| FGFR2fibroblast growth factor receptor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| FGFR3fibroblast growth factor receptor 3 | Nogle gange (5–29 %) | I 1 tilstand |
| FIBPFGF1 intracellular binding protein | Nogle gange (5–29 %) | I 2 tilstande |
| FLT4fms related receptor tyrosine kinase 4 | Nogle gange (5–29 %) | I 1 tilstand |
| FOCADfocadhesin | Nogle gange (5–29 %) | I 1 tilstand |
| FOXP2forkhead box P2 | Nogle gange (5–29 %) | I 1 tilstand |
| FRYLFRY like transcription coactivator | Nogle gange (5–29 %) | I 1 tilstand |
| GATA2GATA binding protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GATAD2BGATA zinc finger domain containing 2B | Nogle gange (5–29 %) | I 1 tilstand |
| GDF11growth differentiation factor 11 | Nogle gange (5–29 %) | I 1 tilstand |
| GJA1gap junction protein alpha 1 | Nogle gange (5–29 %) | I 3 tilstande |
| GJA5gap junction protein alpha 5 | Nogle gange (5–29 %) | I 1 tilstand |
| GJA8gap junction protein alpha 8 | Nogle gange (5–29 %) | I 1 tilstand |
| GLI2GLI family zinc finger 2 | 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 |
| GTF3C3general transcription factor IIIC subunit 3 | Nogle gange (5–29 %) | I 1 tilstand |
| H3-3AH3.3 histone A | Nogle gange (5–29 %) | I 1 tilstand |
| H4C5H4 clustered histone 5 | Nogle gange (5–29 %) | I 1 tilstand |
| HELLShelicase, lymphoid specific | Nogle gange (5–29 %) | I 2 tilstande |
| HIVEP2HIVEP zinc finger 2 | Nogle gange (5–29 %) | I 1 tilstand |
| HK1hexokinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| HNRNPH2heterogeneous nuclear ribonucleoprotein H2 | Nogle gange (5–29 %) | I 1 tilstand |
| HS2ST1heparan sulfate 2-O-sulfotransferase 1 | 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 |
| JARID2jumonji and AT-rich interaction domain containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| KAT8lysine acetyltransferase 8 | Nogle gange (5–29 %) | I 1 tilstand |
| KCTD1potassium channel tetramerization domain containing 1 | Nogle gange (5–29 %) | I 1 tilstand |
| KDM2Blysine demethylase 2B | Nogle gange (5–29 %) | I 1 tilstand |
| KIAA0586KIAA0586 | Nogle gange (5–29 %) | I 1 tilstand |
| KIF11kinesin family member 11 | Nogle gange (5–29 %) | I 2 tilstande |
| KLHL20kelch like family member 20 | Nogle gange (5–29 %) | I 1 tilstand |
| KMT2Dlysine methyltransferase 2D | Nogle gange (5–29 %) | I 2 tilstande |
| KMT5Blysine methyltransferase 5B | 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 |
| MAB21L2mab-21 like 2 | 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 |
| MADDMAP kinase activating death domain | Nogle gange (5–29 %) | I 1 tilstand |
| MAPK1mitogen-activated protein kinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MARK2microtubule affinity regulating kinase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MED13Lmediator complex subunit 13L | Nogle gange (5–29 %) | I 1 tilstand |
| MEG3maternally expressed 3 | Nogle gange (5–29 %) | I 2 tilstande |
| MPC1mitochondrial pyruvate carrier 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MPLKIPM-phase specific PLK1 interacting protein | Nogle gange (5–29 %) | I 2 tilstande |
| MSL2MSL complex subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| NAA20N-alpha-acetyltransferase 20, NatB catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| NALCNsodium leak channel, non-selective | Nogle gange (5–29 %) | I 1 tilstand |
| NBNnibrin | Nogle gange (5–29 %) | I 1 tilstand |
| NDST1N-deacetylase and N-sulfotransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NONOnon-POU domain containing octamer binding | Nogle gange (5–29 %) | I 1 tilstand |
| NOTCH3notch receptor 3 | Nogle gange (5–29 %) | I 1 tilstand |
| NR2F1nuclear receptor subfamily 2 group F member 1 | Nogle gange (5–29 %) | I 2 tilstande |
| PAK2p21 (RAC1) activated kinase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PCDHGC4protocadherin gamma subfamily C, 4 | Nogle gange (5–29 %) | I 1 tilstand |
| PDE4Dphosphodiesterase 4D | Nogle gange (5–29 %) | I 1 tilstand |
| PGAP2post-GPI attachment to proteins 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| PGM2L1phosphoglucomutase 2 like 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PHIPPHIP subunit of CUL4-Ring ligase complex | Nogle gange (5–29 %) | I 2 tilstande |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Nogle gange (5–29 %) | I 2 tilstande |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Nogle gange (5–29 %) | I 1 tilstand |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Nogle gange (5–29 %) | I 1 tilstand |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Nogle gange (5–29 %) | I 1 tilstand |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Nogle gange (5–29 %) | I 1 tilstand |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Nogle gange (5–29 %) | I 1 tilstand |
| PIK3C2Aphosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | Nogle gange (5–29 %) | I 2 tilstande |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Nogle gange (5–29 %) | I 1 tilstand |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PLXND1plexin D1 | Nogle gange (5–29 %) | I 1 tilstand |
| PNPLA6patatin like domain 6, lysophospholipase | Nogle gange (5–29 %) | I 1 tilstand |
| POLRMTRNA polymerase mitochondrial | Nogle gange (5–29 %) | I 1 tilstand |
| POU3F3POU class 3 homeobox 3 | Nogle gange (5–29 %) | I 1 tilstand |
| PPP1R12Aprotein phosphatase 1 regulatory subunit 12A | Nogle gange (5–29 %) | I 1 tilstand |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Nogle gange (5–29 %) | I 2 tilstande |
| 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 |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Nogle gange (5–29 %) | I 2 tilstande |
| PRMT7protein arginine methyltransferase 7 | Nogle gange (5–29 %) | I 1 tilstand |
| PRORPprotein only RNase P catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| PTCH2patched 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PURApurine rich element binding protein A | 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 |
| REV3LREV3 like, DNA directed polymerase zeta catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| RFWD3ring finger and WD repeat domain 3 | Nogle gange (5–29 %) | I 1 tilstand |
| RFX7regulatory factor X7 | Nogle gange (5–29 %) | I 1 tilstand |
| RHOBTB2Rho related BTB domain containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Nogle gange (5–29 %) | I 1 tilstand |
| RNF113Aring finger protein 113A | Nogle gange (5–29 %) | I 1 tilstand |
| RPL10ribosomal protein L10 | Nogle gange (5–29 %) | I 2 tilstande |
| RPS19ribosomal protein S19 | Nogle gange (5–29 %) | I 2 tilstande |
| RTL1retrotransposon Gag like 1 | Nogle gange (5–29 %) | I 2 tilstande |
| SALL4spalt like transcription factor 4 | Nogle gange (5–29 %) | I 2 tilstande |
| SCAF4SR-related CTD associated factor 4 | Nogle gange (5–29 %) | I 1 tilstand |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Nogle gange (5–29 %) | I 1 tilstand |
| SEMA3Esemaphorin 3E | Nogle gange (5–29 %) | I 1 tilstand |
| SEPTIN9septin 9 | Nogle gange (5–29 %) | I 2 tilstande |
| SLC26A2solute carrier family 26 member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC6A1solute carrier family 6 member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC6A11solute carrier family 6 member 11 | Nogle gange (5–29 %) | I 1 tilstand |
| SLX4SLX4 structure-specific endonuclease subunit | Nogle gange (5–29 %) | I 1 tilstand |
| SMC5structural maintenance of chromosomes 5 | Nogle gange (5–29 %) | I 1 tilstand |
| SMPD4sphingomyelin phosphodiesterase 4 | Nogle gange (5–29 %) | I 1 tilstand |
| SOX9SRY-box transcription factor 9 | Nogle gange (5–29 %) | I 1 tilstand |
| SPARTspartin | Nogle gange (5–29 %) | I 1 tilstand |
| SPI1Spi-1 proto-oncogene | Nogle gange (5–29 %) | I 1 tilstand |
| SRRM2serine/arginine repetitive matrix 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SRYsex determining region Y | Nogle gange (5–29 %) | I 1 tilstand |
| SUFUSUFU negative regulator of hedgehog signaling | Nogle gange (5–29 %) | I 1 tilstand |
| SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit | Nogle gange (5–29 %) | I 2 tilstande |
| SVBPsmall vasohibin binding protein | Nogle gange (5–29 %) | I 1 tilstand |
| SYT1synaptotagmin 1 | Nogle gange (5–29 %) | I 2 tilstande |
| TAF1TATA-box binding protein associated factor 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 |
| TBCKTBC1 domain containing kinase | Nogle gange (5–29 %) | I 2 tilstande |
| TBX22T-box transcription factor 22 | Nogle gange (5–29 %) | I 1 tilstand |
| TBX4T-box transcription factor 4 | Nogle gange (5–29 %) | I 1 tilstand |
| TCF3transcription factor 3 | Nogle gange (5–29 %) | I 1 tilstand |
| TONSLtonsoku like, DNA repair protein | 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 |
| TRMT10AtRNA methyltransferase 10A | Nogle gange (5–29 %) | I 1 tilstand |
| TUBB3tubulin beta 3 class III | Nogle gange (5–29 %) | I 1 tilstand |
| TWIST1twist family bHLH transcription factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| UBE2Tubiquitin conjugating enzyme E2 T | Nogle gange (5–29 %) | I 1 tilstand |
| UBE3Aubiquitin protein ligase E3A | Nogle gange (5–29 %) | I 1 tilstand |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Nogle gange (5–29 %) | I 1 tilstand |
| UGDHUDP-glucose 6-dehydrogenase | Nogle gange (5–29 %) | I 1 tilstand |
| UGP2UDP-glucose pyrophosphorylase 2 | 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 1 tilstand |
| WBP4WW domain binding protein 4 | Nogle gange (5–29 %) | I 1 tilstand |
| WDR83OSWD repeat domain 83 opposite strand | Nogle gange (5–29 %) | I 1 tilstand |
| XRCC2X-ray repair cross complementing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| XYLT1xylosyltransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ZBTB24zinc finger and BTB domain containing 24 | Nogle gange (5–29 %) | I 2 tilstande |
| ZNF292zinc finger protein 292 | Nogle gange (5–29 %) | I 1 tilstand |
| ZSCAN10zinc finger and SCAN domain containing 10 | Nogle gange (5–29 %) | I 1 tilstand |
| ACBD6acyl-CoA binding domain containing 6 | Sjældent (1–4%) | I 1 tilstand |
| ADA2adenosine deaminase 2 | Sjældent (1–4%) | I 1 tilstand |
| CNTNAP2contactin associated protein 2 | Sjældent (1–4%) | I 1 tilstand |
| EPG5ectopic P-granules 5 autophagy tethering factor | Sjældent (1–4%) | I 1 tilstand |
| GATA1GATA binding protein 1 | Sjældent (1–4%) | I 1 tilstand |
| HEATR3HEAT repeat containing 3 | Sjældent (1–4%) | I 1 tilstand |
| MAN1B1mannosidase alpha class 1B member 1 | Sjældent (1–4%) | I 1 tilstand |
| PAHphenylalanine hydroxylase | 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 1 tilstand |
| RPL5ribosomal protein L5 | Sjældent (1–4%) | I 1 tilstand |
| RPL8ribosomal protein L8 | Sjældent (1–4%) | I 1 tilstand |
| RPL9ribosomal protein L9 | Sjældent (1–4%) | I 1 tilstand |
| RPS10ribosomal protein S10 | Sjældent (1–4%) | I 1 tilstand |
| RPS15Aribosomal protein S15a | Sjældent (1–4%) | I 1 tilstand |
| RPS17ribosomal protein S17 | Sjældent (1–4%) | I 1 tilstand |
| 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 2 tilstande |
| RPS29ribosomal protein S29 | Sjældent (1–4%) | I 1 tilstand |
| RPS7ribosomal protein S7 | Sjældent (1–4%) | I 1 tilstand |
| TSR2TSR2 ribosome maturation factor | Sjældent (1–4%) | I 1 tilstand |
| ZEB2zinc finger E-box binding homeobox 2 | Sjældent (1–4%) | I 1 tilstand |
| AHI1Abelson helper integration site 1 | Ikke registreret | I 1 tilstand |
| ALDOAaldolase, fructose-bisphosphate A | Ikke registreret | I 1 tilstand |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Ikke registreret | I 1 tilstand |
| ATN1atrophin 1 | Ikke registreret | I 1 tilstand |
| B9D2B9 domain containing 2 | Ikke registreret | I 1 tilstand |
| BMPERBMP binding endothelial regulator | Ikke registreret | I 1 tilstand |
| BRAT1BRCA1 associated ATM activator 1 | Ikke registreret | I 1 tilstand |
| CASKcalcium/calmodulin dependent serine protein kinase | Ikke registreret | I 1 tilstand |
| CHD3chromodomain helicase DNA binding protein 3 | Ikke registreret | I 1 tilstand |
| CHD4chromodomain helicase DNA binding protein 4 | Ikke registreret | I 1 tilstand |
| CHRNA1cholinergic receptor nicotinic alpha 1 subunit | Ikke registreret | I 1 tilstand |
| CHRNDcholinergic receptor nicotinic delta subunit | Ikke registreret | I 1 tilstand |
| COL11A1collagen type XI alpha 1 chain | Ikke registreret | I 1 tilstand |
| DDR2discoidin domain receptor tyrosine kinase 2 | Ikke registreret | I 1 tilstand |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Ikke registreret | I 1 tilstand |
| DOCK3dedicator of cytokinesis 3 | Ikke registreret | I 1 tilstand |
| EEDembryonic ectoderm development | Ikke registreret | I 1 tilstand |
| EXOSC9exosome component 9 | Ikke registreret | I 1 tilstand |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Ikke registreret | I 1 tilstand |
| GLIS3GLIS family zinc finger 3 | Ikke registreret | I 1 tilstand |
| GPC6glypican 6 | Ikke registreret | I 1 tilstand |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Ikke registreret | I 1 tilstand |
| INPP5Einositol polyphosphate-5-phosphatase E | Ikke registreret | I 1 tilstand |
| LMBRD1LMBR1 domain containing 1 | Ikke registreret | I 1 tilstand |
| MAN2B1mannosidase alpha class 2B member 1 | Ikke registreret | I 1 tilstand |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Ikke registreret | I 1 tilstand |
| NANSN-acetylneuraminate synthase | Ikke registreret | I 1 tilstand |
| NOTCH2notch receptor 2 | Ikke registreret | I 1 tilstand |
| NRASNRAS proto-oncogene, GTPase | Ikke registreret | I 1 tilstand |
| OSGEPO-sialoglycoprotein endopeptidase | Ikke registreret | I 1 tilstand |
| PBX1PBX homeobox 1 | Ikke registreret | I 1 tilstand |
| PDHXpyruvate dehydrogenase complex component X | Ikke registreret | I 1 tilstand |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Ikke registreret | I 3 tilstande |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Ikke registreret | I 1 tilstand |
| PUS7pseudouridine synthase 7 | Ikke registreret | I 1 tilstand |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Ikke registreret | I 1 tilstand |
| RALARAS like proto-oncogene A | Ikke registreret | I 1 tilstand |
| SLC17A5solute carrier family 17 member 5 | Ikke registreret | I 1 tilstand |
| SNRPBsmall nuclear ribonucleoprotein polypeptides B and B1 | Ikke registreret | I 1 tilstand |
| SNX14sorting nexin 14 | Ikke registreret | I 1 tilstand |
| SOX18SRY-box transcription factor 18 | Ikke registreret | I 1 tilstand |
| SOX5SRY-box transcription factor 5 | Ikke registreret | I 1 tilstand |
| SPRED1sprouty related EVH1 domain containing 1 | Ikke registreret | I 1 tilstand |
| SRCAPSnf2 related CREBBP activator protein | Ikke registreret | I 1 tilstand |
| TCF20transcription factor 20 | Ikke registreret | I 1 tilstand |
| THUMPD1THUMP domain 1 NAT10 acetyltransferase adaptor | Ikke registreret | I 1 tilstand |
| TMEM237transmembrane protein 237 | Ikke registreret | I 1 tilstand |
| TRRAPtransformation/transcription domain associated protein | Ikke registreret | I 1 tilstand |
| UNC80unc-80 subunit of NALCN channel complex | Ikke registreret | I 1 tilstand |
| WDR73WD repeat domain 73 | Ikke registreret | I 1 tilstand |
| WNK3WNK lysine deficient protein kinase 3 | Ikke registreret | I 1 tilstand |
| WNT7AWnt family member 7A | Ikke registreret | I 1 tilstand |
| ZMIZ1zinc finger MIZ-type containing 1 | Ikke registreret | I 1 tilstand |
| ZNF469zinc finger protein 469 | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
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Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
Én test. Svar for hele livet.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger