Egenskap
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.
Sammendrag
- Også kalt
- Prominent eye folds, Epicanthal fold, Epicanthal folds, Epicanthic folds, Palpebronasal fold, Plica palpebronasalis
- Kroppssystem
- Abnormality of head or neck
ReferansegenomGRCh38hg38
Posisjoner på gen- og variantsidene følger dette valget i denne nettleseren.
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Endringer i disse genene forårsaker sjeldne tilstander der Eye folds forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| ADAMTS2ADAM metallopeptidase with thrombospondin type 1 motif 2 | Alltid | I 2 tilstander |
| AGO1argonaute RISC component 1 | Alltid | I 1 tilstand |
| AHDC1AT-hook DNA binding motif containing 1 | Alltid | I 1 tilstand |
| ALDH6A1aldehyde dehydrogenase 6 family member A1 | Alltid | I 1 tilstand |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Alltid | I 2 tilstander |
| AMOTL1angiomotin like 1 | Alltid | I 1 tilstand |
| AP3B1adaptor related protein complex 3 subunit beta 1 | Alltid | I 1 tilstand |
| ASPMassembly factor for spindle microtubules | Alltid | I 1 tilstand |
| ASXL3ASXL transcriptional regulator 3 | Alltid | I 1 tilstand |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Alltid | I 2 tilstander |
| ATRXATRX chromatin remodeler | Alltid | I 3 tilstander |
| CCDC88Acoiled-coil and HOOK domain protein 88A | Alltid | I 1 tilstand |
| CCT3chaperonin containing TCP1 subunit 3 | Alltid | I 1 tilstand |
| CDK10cyclin dependent kinase 10 | Alltid | I 1 tilstand |
| COA3cytochrome c oxidase assembly factor 3 | Alltid | I 1 tilstand |
| COQ4coenzyme Q4 | Alltid | I 1 tilstand |
| CRNKL1crooked neck pre-mRNA splicing factor 1 | Alltid | I 1 tilstand |
| DAND5DAN domain BMP antagonist family member 5 | Alltid | I 1 tilstand |
| DDX11DEAD/H-box helicase 11 | Alltid | I 1 tilstand |
| DHCR77-dehydrocholesterol reductase | Alltid | I 2 tilstander |
| DHX9DExH-box helicase 9 | Alltid | I 1 tilstand |
| DMXL2Dmx like 2 | Alltid | I 1 tilstand |
| DNMT3ADNA methyltransferase 3 alpha | Alltid | I 2 tilstander |
| DPH1diphthamide biosynthesis 1 | Alltid | I 2 tilstander |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Alltid | I 1 tilstand |
| EIF4A2eukaryotic translation initiation factor 4A2 | Alltid | I 1 tilstand |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Alltid | I 1 tilstand |
| ERI1exoribonuclease 1 | Alltid | I 1 tilstand |
| FANCCFA complementation group C | Alltid | I 2 tilstander |
| FAT4FAT atypical cadherin 4 | Alltid | I 4 tilstander |
| FGFR1fibroblast growth factor receptor 1 | Alltid | I 2 tilstander |
| FIG4FIG4 phosphoinositide 5-phosphatase | Alltid | I 1 tilstand |
| FKBP14FKBP prolyl isomerase 14 | Alltid | I 1 tilstand |
| GUSBglucuronidase beta | Alltid | I 1 tilstand |
| IFT140intraflagellar transport 140 | Alltid | I 2 tilstander |
| INTS11integrator complex subunit 11 | Alltid | I 1 tilstand |
| JKAMPJNK1/MAPK8 associated membrane protein | Alltid | I 1 tilstand |
| KDM6Blysine demethylase 6B | Alltid | I 1 tilstand |
| KIAA0753KIAA0753 | Alltid | I 2 tilstander |
| LIG4DNA ligase 4 | Alltid | I 2 tilstander |
Vis 612 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| MAP1Bmicrotubule associated protein 1B | Alltid | I 1 tilstand |
| MAP2K2mitogen-activated protein kinase kinase 2 | Alltid | I 3 tilstander |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Alltid | I 1 tilstand |
| MARS1methionyl-tRNA synthetase 1 | Alltid | I 1 tilstand |
| MED12mediator complex subunit 12 | Alltid | I 2 tilstander |
| MICU1mitochondrial calcium uptake 1 | Alltid | I 1 tilstand |
| MRPL12mitochondrial ribosomal protein L12 | Alltid | I 1 tilstand |
| MTSS2MTSS I-BAR domain containing 2 | Alltid | I 1 tilstand |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Alltid | I 2 tilstander |
| NAA80N-alpha-acetyltransferase 80, NatH catalytic subunit | Alltid | I 1 tilstand |
| NSD1nuclear receptor binding SET domain protein 1 | Alltid | I 2 tilstander |
| NSD2nuclear receptor binding SET domain protein 2 | Alltid | I 3 tilstander |
| NUP188nucleoporin 188 | Alltid | I 1 tilstand |
| PALB2partner and localizer of BRCA2 | Alltid | I 2 tilstander |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Alltid | I 1 tilstand |
| PEX19peroxisomal biogenesis factor 19 | Alltid | I 2 tilstander |
| POLR1ARNA polymerase I subunit A | Alltid | I 1 tilstand |
| PPP2R3Cprotein phosphatase 2 regulatory subunit B''gamma | Alltid | I 2 tilstander |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Alltid | I 1 tilstand |
| RECQL4RecQ like helicase 4 | Alltid | I 3 tilstander |
| RIN2Ras and Rab interactor 2 | Alltid | I 1 tilstand |
| RNU2-2RNA, U2 small nuclear 2 | Alltid | I 1 tilstand |
| RPL17ribosomal protein L17 | Alltid | I 1 tilstand |
| RPS23ribosomal protein S23 | Alltid | I 1 tilstand |
| RSPRY1ring finger and SPRY domain containing 1 | Alltid | I 2 tilstander |
| SC5Dsterol-C5-desaturase | Alltid | I 2 tilstander |
| SLC13A1solute carrier family 13 member 1 | Alltid | I 1 tilstand |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Alltid | I 1 tilstand |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Alltid | I 1 tilstand |
| TASP1taspase 1 | Alltid | I 1 tilstand |
| TPRKBTP53RK binding protein | Alltid | I 1 tilstand |
| TUBBtubulin beta class I | Alltid | I 2 tilstander |
| UBAP2Lubiquitin associated protein 2 like | Alltid | I 1 tilstand |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Alltid | I 1 tilstand |
| UQCC2ubiquinol-cytochrome c reductase complex assembly factor 2 | Alltid | I 1 tilstand |
| VDRvitamin D receptor | Alltid | I 1 tilstand |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Alltid | I 2 tilstander |
| VPS51VPS51 subunit of GARP complex | Alltid | I 1 tilstand |
| VPS53VPS53 subunit of GARP complex | Alltid | I 1 tilstand |
| WT1WT1 transcription factor | Alltid | I 1 tilstand |
| WWOXWW domain containing oxidoreductase | Alltid | I 1 tilstand |
| ZNF148zinc finger protein 148 | Alltid | I 1 tilstand |
| ZNF407zinc finger protein 407 | Alltid | I 1 tilstand |
| ACTBactin beta | Svært ofte (80–99 %) | I 3 tilstander |
| ACTG1actin gamma 1 | Svært ofte (80–99 %) | I 1 tilstand |
| ALX4ALX homeobox 4 | Svært ofte (80–99 %) | I 1 tilstand |
| ARVCFARVCF delta catenin family member | Svært ofte (80–99 %) | I 1 tilstand |
| B4GALT7beta-1,4-galactosyltransferase 7 | Svært ofte (80–99 %) | I 1 tilstand |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Svært ofte (80–99 %) | I 1 tilstand |
| BCL11ABCL11 transcription factor A | Svært ofte (80–99 %) | I 2 tilstander |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Svært ofte (80–99 %) | I 2 tilstander |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Svært ofte (80–99 %) | I 2 tilstander |
| BUB3BUB3 mitotic checkpoint protein | Svært ofte (80–99 %) | I 1 tilstand |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Svært ofte (80–99 %) | I 1 tilstand |
| CD96CD96 molecule | Svært ofte (80–99 %) | I 2 tilstander |
| CEP57centrosomal protein 57 | Svært ofte (80–99 %) | I 2 tilstander |
| CLIP2CAP-Gly domain containing linker protein 2 | Svært ofte (80–99 %) | I 1 tilstand |
| CNTNAP1contactin associated protein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| COMTcatechol-O-methyltransferase | Svært ofte (80–99 %) | I 1 tilstand |
| CPLX1complexin 1 | Svært ofte (80–99 %) | I 2 tilstander |
| CTBP1C-terminal binding protein 1 | Svært ofte (80–99 %) | I 2 tilstander |
| CTNND2catenin delta 2 | Svært ofte (80–99 %) | I 1 tilstand |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Svært ofte (80–99 %) | I 1 tilstand |
| DPH5diphthamide biosynthesis 5 | Svært ofte (80–99 %) | I 1 tilstand |
| EIF4Heukaryotic translation initiation factor 4H | Svært ofte (80–99 %) | I 1 tilstand |
| ELNelastin | Svært ofte (80–99 %) | I 2 tilstander |
| EXT2exostosin glycosyltransferase 2 | Svært ofte (80–99 %) | I 1 tilstand |
| FGF20fibroblast growth factor 20 | Svært ofte (80–99 %) | I 1 tilstand |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Svært ofte (80–99 %) | I 1 tilstand |
| FOXG1forkhead box G1 | Svært ofte (80–99 %) | I 1 tilstand |
| GFRA1GDNF family receptor alpha 1 | Svært ofte (80–99 %) | I 1 tilstand |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Svært ofte (80–99 %) | I 2 tilstander |
| GP1BBglycoprotein Ib platelet subunit beta | Svært ofte (80–99 %) | I 1 tilstand |
| GREB1LGREB1 like retinoic acid receptor coactivator | Svært ofte (80–99 %) | I 1 tilstand |
| GTF2Igeneral transcription factor IIi | Svært ofte (80–99 %) | I 1 tilstand |
| GTF2IRD1GTF2I repeat domain containing 1 | Svært ofte (80–99 %) | I 1 tilstand |
| GTF2IRD2GTF2I repeat domain containing 2 | Svært ofte (80–99 %) | I 1 tilstand |
| HIC1HIC ZBTB transcriptional repressor 1 | Svært ofte (80–99 %) | I 1 tilstand |
| HIRAhistone cell cycle regulator | Svært ofte (80–99 %) | I 1 tilstand |
| IFT122intraflagellar transport 122 | Svært ofte (80–99 %) | I 2 tilstander |
| IFT43intraflagellar transport 43 | Svært ofte (80–99 %) | I 2 tilstander |
| IFT52intraflagellar transport 52 | Svært ofte (80–99 %) | I 1 tilstand |
| ITGA8integrin subunit alpha 8 | Svært ofte (80–99 %) | I 1 tilstand |
| JMJD1Cjumonji domain containing 1C | Svært ofte (80–99 %) | I 1 tilstand |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Svært ofte (80–99 %) | I 2 tilstander |
| LIMK1LIM domain kinase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| LONP1lon peptidase 1, mitochondrial | Svært ofte (80–99 %) | I 1 tilstand |
| MECP2methyl-CpG binding protein 2 | Svært ofte (80–99 %) | I 2 tilstander |
| MEGF8multiple EGF like domains 8 | Svært ofte (80–99 %) | I 2 tilstander |
| METTL27methyltransferase like 27 | Svært ofte (80–99 %) | I 1 tilstand |
| MYMKmyomaker, myoblast fusion factor | Svært ofte (80–99 %) | I 2 tilstander |
| MYMXmyomixer, myoblast fusion factor | Svært ofte (80–99 %) | I 1 tilstand |
| NCF1neutrophil cytosolic factor 1 | Svært ofte (80–99 %) | I 1 tilstand |
| NELFAnegative elongation factor complex member A | Svært ofte (80–99 %) | I 1 tilstand |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Svært ofte (80–99 %) | I 2 tilstander |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Svært ofte (80–99 %) | I 1 tilstand |
| PEX1peroxisomal biogenesis factor 1 | Svært ofte (80–99 %) | I 3 tilstander |
| PEX10peroxisomal biogenesis factor 10 | Svært ofte (80–99 %) | I 1 tilstand |
| PEX11Bperoxisomal biogenesis factor 11 beta | Svært ofte (80–99 %) | I 1 tilstand |
| PEX12peroxisomal biogenesis factor 12 | Svært ofte (80–99 %) | I 1 tilstand |
| PEX13peroxisomal biogenesis factor 13 | Svært ofte (80–99 %) | I 1 tilstand |
| PEX14peroxisomal biogenesis factor 14 | Svært ofte (80–99 %) | I 1 tilstand |
| PEX16peroxisomal biogenesis factor 16 | Svært ofte (80–99 %) | I 1 tilstand |
| PEX2peroxisomal biogenesis factor 2 | Svært ofte (80–99 %) | I 2 tilstander |
| PEX26peroxisomal biogenesis factor 26 | Svært ofte (80–99 %) | I 1 tilstand |
| PEX3peroxisomal biogenesis factor 3 | Svært ofte (80–99 %) | I 2 tilstander |
| PEX5peroxisomal biogenesis factor 5 | Svært ofte (80–99 %) | I 3 tilstander |
| PEX6peroxisomal biogenesis factor 6 | Svært ofte (80–99 %) | I 1 tilstand |
| PHF21APHD finger protein 21A | Svært ofte (80–99 %) | I 1 tilstand |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Svært ofte (80–99 %) | I 1 tilstand |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Svært ofte (80–99 %) | I 3 tilstander |
| PTCH1patched 1 | Svært ofte (80–99 %) | I 2 tilstander |
| RAB23RAB23, member RAS oncogene family | Svært ofte (80–99 %) | I 2 tilstander |
| RELREL proto-oncogene, NF-kB subunit | Svært ofte (80–99 %) | I 1 tilstand |
| RETret proto-oncogene | Svært ofte (80–99 %) | I 1 tilstand |
| RFC2replication factor C subunit 2 | Svært ofte (80–99 %) | I 1 tilstand |
| RPS6KA3ribosomal protein S6 kinase A3 | Svært ofte (80–99 %) | I 1 tilstand |
| RREB1ras responsive element binding protein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| RYR1ryanodine receptor 1 | Svært ofte (80–99 %) | I 1 tilstand |
| SEC24CSEC24 homolog C, COPII component | Svært ofte (80–99 %) | I 1 tilstand |
| SEMA5Asemaphorin 5A | Svært ofte (80–99 %) | I 1 tilstand |
| SIAH1siah E3 ubiquitin protein ligase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| SLC25A24solute carrier family 25 member 24 | Svært ofte (80–99 %) | I 1 tilstand |
| STX1Asyntaxin 1A | Svært ofte (80–99 %) | I 1 tilstand |
| TBL2transducin beta like 2 | Svært ofte (80–99 %) | I 1 tilstand |
| TBX1T-box transcription factor 1 | Svært ofte (80–99 %) | I 2 tilstander |
| TMEM270transmembrane protein 270 | Svært ofte (80–99 %) | I 1 tilstand |
| TRIP13thyroid hormone receptor interactor 13 | Svært ofte (80–99 %) | I 1 tilstand |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Svært ofte (80–99 %) | I 1 tilstand |
| VPS37DVPS37D subunit of ESCRT-I | Svært ofte (80–99 %) | I 1 tilstand |
| WDR19WD repeat domain 19 | Svært ofte (80–99 %) | I 2 tilstander |
| WDR35WD repeat domain 35 | Svært ofte (80–99 %) | I 4 tilstander |
| WNT9BWnt family member 9B | Svært ofte (80–99 %) | I 1 tilstand |
| XPO1exportin 1 | Svært ofte (80–99 %) | I 1 tilstand |
| YWHAEtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon | Svært ofte (80–99 %) | I 1 tilstand |
| ZBTB18zinc finger and BTB domain containing 18 | Svært ofte (80–99 %) | I 2 tilstander |
| ZBTB20zinc finger and BTB domain containing 20 | Svært ofte (80–99 %) | I 1 tilstand |
| ZNHIT3zinc finger HIT-type containing 3 | Svært ofte (80–99 %) | I 2 tilstander |
| ABCC9ATP binding cassette subfamily C member 9 | Ofte (30–79 %) | I 2 tilstander |
| ACOX1acyl-CoA oxidase 1 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| AFF2ALF transcription elongation factor 2 | Ofte (30–79 %) | I 2 tilstander |
| AGO2argonaute RISC catalytic component 2 | Ofte (30–79 %) | I 1 tilstand |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| CREBBPCREB binding lysine acetyltransferase | Ofte (30–79 %) | I 3 tilstander |
| 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 tilstander |
| DVL3dishevelled segment polarity protein 3 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| GPC3glypican 3 | Ofte (30–79 %) | I 2 tilstander |
| GPC4glypican 4 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| KCNJ8potassium inwardly rectifying channel subfamily J member 8 | Ofte (30–79 %) | I 1 tilstand |
| KDM6Alysine demethylase 6A | Ofte (30–79 %) | I 2 tilstander |
| KIF7kinesin family member 7 | Ofte (30–79 %) | I 2 tilstander |
| KMT2Alysine methyltransferase 2A | Ofte (30–79 %) | I 2 tilstander |
| KMT2Blysine methyltransferase 2B | Ofte (30–79 %) | I 1 tilstand |
| KRASKRas proto-oncogene, GTPase | Ofte (30–79 %) | I 5 tilstander |
| 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 tilstander |
| MAP2K1mitogen-activated protein kinase kinase 1 | Ofte (30–79 %) | I 3 tilstander |
| MAPRE2microtubule associated protein RP/EB family member 2 | Ofte (30–79 %) | I 2 tilstander |
| MED25mediator complex subunit 25 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Ofte (30–79 %) | I 1 tilstand |
| PQBP1polyglutamine binding protein 1 | Ofte (30–79 %) | I 2 tilstander |
| PRDM13PR/SET domain 13 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| SHROOM4shroom family member 4 | Ofte (30–79 %) | I 1 tilstand |
| SIN3ASIN3 transcription regulator family member A | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| SOX4SRY-box transcription factor 4 | Ofte (30–79 %) | I 1 tilstand |
| SPENspen family transcriptional repressor | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| TBX2T-box transcription factor 2 | Ofte (30–79 %) | I 1 tilstand |
| TCTN3tectonic family member 3 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| UBE3Bubiquitin protein ligase E3B | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| AARS1alanyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ABCA5ATP binding cassette subfamily A member 5 | Noen ganger (5–29 %) | I 1 tilstand |
| ADNPactivity dependent neuroprotector homeobox | Noen ganger (5–29 %) | I 1 tilstand |
| AMER1APC membrane recruitment protein 1 | Noen ganger (5–29 %) | I 2 tilstander |
| ANK1ankyrin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ASXL1ASXL transcriptional regulator 1 | Noen ganger (5–29 %) | I 1 tilstand |
| BCAS3BCAS3 microtubule associated cell migration factor | Noen ganger (5–29 %) | I 1 tilstand |
| BCL11BBCL11 transcription factor B | Noen ganger (5–29 %) | I 1 tilstand |
| BLNKB cell linker | Noen ganger (5–29 %) | I 1 tilstand |
| BORCS8BLOC-1 related complex subunit 8 | Noen ganger (5–29 %) | I 1 tilstand |
| BPTFbromodomain PHD finger transcription factor | Noen ganger (5–29 %) | I 1 tilstand |
| BRCA1BRCA1 DNA repair associated | Noen ganger (5–29 %) | I 2 tilstander |
| BRCA2BRCA2 DNA repair associated | Noen ganger (5–29 %) | I 1 tilstand |
| BRIP1BRCA1 interacting DNA helicase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CAMK2Acalcium/calmodulin dependent protein kinase II alpha | Noen ganger (5–29 %) | I 1 tilstand |
| CARS1cysteinyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CCDC47coiled-coil domain containing 47 | Noen ganger (5–29 %) | I 1 tilstand |
| CD79ACD79a molecule | Noen ganger (5–29 %) | I 1 tilstand |
| CD79BCD79b molecule | Noen ganger (5–29 %) | I 1 tilstand |
| CDCA7cell division cycle associated 7 | Noen ganger (5–29 %) | I 2 tilstander |
| CDK13cyclin dependent kinase 13 | Noen ganger (5–29 %) | I 1 tilstand |
| CHD5chromodomain helicase DNA binding protein 5 | Noen ganger (5–29 %) | I 1 tilstand |
| CHD7chromodomain helicase DNA binding protein 7 | Noen ganger (5–29 %) | I 1 tilstand |
| CHD8chromodomain helicase DNA binding protein 8 | Noen ganger (5–29 %) | I 1 tilstand |
| CHRNA7cholinergic receptor nicotinic alpha 7 subunit | Noen ganger (5–29 %) | I 1 tilstand |
| CLCN3Cl-/H+ antiporter 3 | Noen ganger (5–29 %) | I 1 tilstand |
| COG6component of oligomeric golgi complex 6 | Noen ganger (5–29 %) | I 1 tilstand |
| COL18A1collagen type XVIII alpha 1 chain | Noen ganger (5–29 %) | I 2 tilstander |
| COL5A1collagen type V alpha 1 chain | Noen ganger (5–29 %) | I 2 tilstander |
| COL5A2collagen type V alpha 2 chain | Noen ganger (5–29 %) | I 2 tilstander |
| CSF1Rcolony stimulating factor 1 receptor | Noen ganger (5–29 %) | I 1 tilstand |
| CSPP1centrosome and spindle pole associated protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CTCFCCCTC-binding factor | Noen ganger (5–29 %) | I 2 tilstander |
| CTNNB1catenin beta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CUL4Bcullin 4B | Noen ganger (5–29 %) | I 1 tilstand |
| DBR1debranching RNA lariats 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DCHS1dachsous cadherin-related 1 | Noen ganger (5–29 %) | I 2 tilstander |
| DEAF1DEAF1 transcription factor | Noen ganger (5–29 %) | I 1 tilstand |
| DHCR2424-dehydrocholesterol reductase | Noen ganger (5–29 %) | I 2 tilstander |
| DHX16DEAH-box helicase 16 | Noen ganger (5–29 %) | I 1 tilstand |
| DHX30DExH-box helicase 30 | Noen ganger (5–29 %) | I 1 tilstand |
| DLK1delta like non-canonical Notch ligand 1 | Noen ganger (5–29 %) | I 2 tilstander |
| DNMT3BDNA methyltransferase 3 beta | Noen ganger (5–29 %) | I 2 tilstander |
| DOT1LDOT1 like histone lysine methyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| DPF2double PHD fingers 2 | Noen ganger (5–29 %) | I 1 tilstand |
| DPH2diphthamide biosynthesis 2 | Noen ganger (5–29 %) | I 1 tilstand |
| EBF3EBF transcription factor 3 | Noen ganger (5–29 %) | I 1 tilstand |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Noen ganger (5–29 %) | I 1 tilstand |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Noen ganger (5–29 %) | I 1 tilstand |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| FAAP100FA core complex associated protein 100 | Noen ganger (5–29 %) | I 1 tilstand |
| FANCAFA complementation group A | Noen ganger (5–29 %) | I 1 tilstand |
| FANCBFA complementation group B | Noen ganger (5–29 %) | I 1 tilstand |
| FANCD2FA complementation group D2 | Noen ganger (5–29 %) | I 1 tilstand |
| FANCEFA complementation group E | Noen ganger (5–29 %) | I 1 tilstand |
| FANCFFA complementation group F | Noen ganger (5–29 %) | I 1 tilstand |
| FANCGFA complementation group G | Noen ganger (5–29 %) | I 1 tilstand |
| FANCIFA complementation group I | Noen ganger (5–29 %) | I 1 tilstand |
| FANCLFA complementation group L | Noen ganger (5–29 %) | I 1 tilstand |
| FANCMFA complementation group M | Noen ganger (5–29 %) | I 1 tilstand |
| FBXL4F-box and leucine rich repeat protein 4 | Noen ganger (5–29 %) | I 1 tilstand |
| FBXO11F-box protein 11 | Noen ganger (5–29 %) | I 1 tilstand |
| FERRY3FERRY endosomal RAB5 effector complex subunit 3 | Noen ganger (5–29 %) | I 1 tilstand |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Noen ganger (5–29 %) | I 1 tilstand |
| FGFR2fibroblast growth factor receptor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| FGFR3fibroblast growth factor receptor 3 | Noen ganger (5–29 %) | I 1 tilstand |
| FIBPFGF1 intracellular binding protein | Noen ganger (5–29 %) | I 2 tilstander |
| FLT4fms related receptor tyrosine kinase 4 | Noen ganger (5–29 %) | I 1 tilstand |
| FOCADfocadhesin | Noen ganger (5–29 %) | I 1 tilstand |
| FOXP2forkhead box P2 | Noen ganger (5–29 %) | I 1 tilstand |
| FRYLFRY like transcription coactivator | Noen ganger (5–29 %) | I 1 tilstand |
| GATA2GATA binding protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| GATAD2BGATA zinc finger domain containing 2B | Noen ganger (5–29 %) | I 1 tilstand |
| GDF11growth differentiation factor 11 | Noen ganger (5–29 %) | I 1 tilstand |
| GJA1gap junction protein alpha 1 | Noen ganger (5–29 %) | I 3 tilstander |
| GJA5gap junction protein alpha 5 | Noen ganger (5–29 %) | I 1 tilstand |
| GJA8gap junction protein alpha 8 | Noen ganger (5–29 %) | I 1 tilstand |
| GLI2GLI family zinc finger 2 | Noen ganger (5–29 %) | I 1 tilstand |
| GTF2E2general transcription factor IIE subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| GTF2H5general transcription factor IIH subunit 5 | Noen ganger (5–29 %) | I 1 tilstand |
| GTF3C3general transcription factor IIIC subunit 3 | Noen ganger (5–29 %) | I 1 tilstand |
| H3-3AH3.3 histone A | Noen ganger (5–29 %) | I 1 tilstand |
| H4C5H4 clustered histone 5 | Noen ganger (5–29 %) | I 1 tilstand |
| HELLShelicase, lymphoid specific | Noen ganger (5–29 %) | I 2 tilstander |
| HIVEP2HIVEP zinc finger 2 | Noen ganger (5–29 %) | I 1 tilstand |
| HK1hexokinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| HNRNPH2heterogeneous nuclear ribonucleoprotein H2 | Noen ganger (5–29 %) | I 1 tilstand |
| HS2ST1heparan sulfate 2-O-sulfotransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| IGHMimmunoglobulin heavy constant mu | Noen ganger (5–29 %) | I 1 tilstand |
| IGLL1immunoglobulin lambda like polypeptide 1 | Noen ganger (5–29 %) | I 1 tilstand |
| JARID2jumonji and AT-rich interaction domain containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| KAT8lysine acetyltransferase 8 | Noen ganger (5–29 %) | I 1 tilstand |
| KCTD1potassium channel tetramerization domain containing 1 | Noen ganger (5–29 %) | I 1 tilstand |
| KDM2Blysine demethylase 2B | Noen ganger (5–29 %) | I 1 tilstand |
| KIAA0586KIAA0586 | Noen ganger (5–29 %) | I 1 tilstand |
| KIF11kinesin family member 11 | Noen ganger (5–29 %) | I 2 tilstander |
| KLHL20kelch like family member 20 | Noen ganger (5–29 %) | I 1 tilstand |
| KMT2Dlysine methyltransferase 2D | Noen ganger (5–29 %) | I 2 tilstander |
| KMT5Blysine methyltransferase 5B | Noen ganger (5–29 %) | I 1 tilstand |
| LRRC7leucine rich repeat containing 7 | Noen ganger (5–29 %) | I 1 tilstand |
| LRRC8Aleucine rich repeat containing 8 VRAC subunit A | Noen ganger (5–29 %) | I 2 tilstander |
| MAB21L2mab-21 like 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MACF1microtubule actin crosslinking factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MAD2L2mitotic arrest deficient 2 like 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MADDMAP kinase activating death domain | Noen ganger (5–29 %) | I 1 tilstand |
| MAPK1mitogen-activated protein kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MARK2microtubule affinity regulating kinase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MED13Lmediator complex subunit 13L | Noen ganger (5–29 %) | I 1 tilstand |
| MEG3maternally expressed 3 | Noen ganger (5–29 %) | I 2 tilstander |
| MPC1mitochondrial pyruvate carrier 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MPLKIPM-phase specific PLK1 interacting protein | Noen ganger (5–29 %) | I 2 tilstander |
| MSL2MSL complex subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| NAA20N-alpha-acetyltransferase 20, NatB catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| NALCNsodium leak channel, non-selective | Noen ganger (5–29 %) | I 1 tilstand |
| NBNnibrin | Noen ganger (5–29 %) | I 1 tilstand |
| NDST1N-deacetylase and N-sulfotransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NONOnon-POU domain containing octamer binding | Noen ganger (5–29 %) | I 1 tilstand |
| NOTCH3notch receptor 3 | Noen ganger (5–29 %) | I 1 tilstand |
| NR2F1nuclear receptor subfamily 2 group F member 1 | Noen ganger (5–29 %) | I 2 tilstander |
| PAK2p21 (RAC1) activated kinase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PCDHGC4protocadherin gamma subfamily C, 4 | Noen ganger (5–29 %) | I 1 tilstand |
| PDE4Dphosphodiesterase 4D | Noen ganger (5–29 %) | I 1 tilstand |
| PGAP2post-GPI attachment to proteins 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| PGM2L1phosphoglucomutase 2 like 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PHIPPHIP subunit of CUL4-Ring ligase complex | Noen ganger (5–29 %) | I 2 tilstander |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Noen ganger (5–29 %) | I 2 tilstander |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Noen ganger (5–29 %) | I 1 tilstand |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Noen ganger (5–29 %) | I 1 tilstand |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Noen ganger (5–29 %) | I 1 tilstand |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Noen ganger (5–29 %) | I 1 tilstand |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Noen ganger (5–29 %) | I 1 tilstand |
| PIK3C2Aphosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | Noen ganger (5–29 %) | I 2 tilstander |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Noen ganger (5–29 %) | I 1 tilstand |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PLXND1plexin D1 | Noen ganger (5–29 %) | I 1 tilstand |
| PNPLA6patatin like domain 6, lysophospholipase | Noen ganger (5–29 %) | I 1 tilstand |
| POLRMTRNA polymerase mitochondrial | Noen ganger (5–29 %) | I 1 tilstand |
| POU3F3POU class 3 homeobox 3 | Noen ganger (5–29 %) | I 1 tilstand |
| PPP1R12Aprotein phosphatase 1 regulatory subunit 12A | Noen ganger (5–29 %) | I 1 tilstand |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Noen ganger (5–29 %) | I 2 tilstander |
| PPP2CAprotein phosphatase 2 catalytic subunit alpha | Noen ganger (5–29 %) | I 1 tilstand |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Noen ganger (5–29 %) | I 1 tilstand |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Noen ganger (5–29 %) | I 2 tilstander |
| PRMT7protein arginine methyltransferase 7 | Noen ganger (5–29 %) | I 1 tilstand |
| PRORPprotein only RNase P catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| PTCH2patched 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PURApurine rich element binding protein A | Noen ganger (5–29 %) | I 1 tilstand |
| RAD51RAD51 recombinase | Noen ganger (5–29 %) | I 1 tilstand |
| RAD51CRAD51 paralog C | Noen ganger (5–29 %) | I 1 tilstand |
| RAP1BRAP1B, member of RAS oncogene family | Noen ganger (5–29 %) | I 1 tilstand |
| REV3LREV3 like, DNA directed polymerase zeta catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| RFWD3ring finger and WD repeat domain 3 | Noen ganger (5–29 %) | I 1 tilstand |
| RFX7regulatory factor X7 | Noen ganger (5–29 %) | I 1 tilstand |
| RHOBTB2Rho related BTB domain containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Noen ganger (5–29 %) | I 1 tilstand |
| RNF113Aring finger protein 113A | Noen ganger (5–29 %) | I 1 tilstand |
| RPL10ribosomal protein L10 | Noen ganger (5–29 %) | I 2 tilstander |
| RPS19ribosomal protein S19 | Noen ganger (5–29 %) | I 2 tilstander |
| RTL1retrotransposon Gag like 1 | Noen ganger (5–29 %) | I 2 tilstander |
| SALL4spalt like transcription factor 4 | Noen ganger (5–29 %) | I 2 tilstander |
| SCAF4SR-related CTD associated factor 4 | Noen ganger (5–29 %) | I 1 tilstand |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Noen ganger (5–29 %) | I 1 tilstand |
| SEMA3Esemaphorin 3E | Noen ganger (5–29 %) | I 1 tilstand |
| SEPTIN9septin 9 | Noen ganger (5–29 %) | I 2 tilstander |
| SLC26A2solute carrier family 26 member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC6A1solute carrier family 6 member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC6A11solute carrier family 6 member 11 | Noen ganger (5–29 %) | I 1 tilstand |
| SLX4SLX4 structure-specific endonuclease subunit | Noen ganger (5–29 %) | I 1 tilstand |
| SMC5structural maintenance of chromosomes 5 | Noen ganger (5–29 %) | I 1 tilstand |
| SMPD4sphingomyelin phosphodiesterase 4 | Noen ganger (5–29 %) | I 1 tilstand |
| SOX9SRY-box transcription factor 9 | Noen ganger (5–29 %) | I 1 tilstand |
| SPARTspartin | Noen ganger (5–29 %) | I 1 tilstand |
| SPI1Spi-1 proto-oncogene | Noen ganger (5–29 %) | I 1 tilstand |
| SRRM2serine/arginine repetitive matrix 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SRYsex determining region Y | Noen ganger (5–29 %) | I 1 tilstand |
| SUFUSUFU negative regulator of hedgehog signaling | Noen ganger (5–29 %) | I 1 tilstand |
| SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit | Noen ganger (5–29 %) | I 2 tilstander |
| SVBPsmall vasohibin binding protein | Noen ganger (5–29 %) | I 1 tilstand |
| SYT1synaptotagmin 1 | Noen ganger (5–29 %) | I 2 tilstander |
| TAF1TATA-box binding protein associated factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TARS1threonyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TBCBtubulin folding cofactor B | Noen ganger (5–29 %) | I 1 tilstand |
| TBCKTBC1 domain containing kinase | Noen ganger (5–29 %) | I 2 tilstander |
| TBX22T-box transcription factor 22 | Noen ganger (5–29 %) | I 1 tilstand |
| TBX4T-box transcription factor 4 | Noen ganger (5–29 %) | I 1 tilstand |
| TCF3transcription factor 3 | Noen ganger (5–29 %) | I 1 tilstand |
| TONSLtonsoku like, DNA repair protein | Noen ganger (5–29 %) | I 1 tilstand |
| TRIOtrio Rho guanine nucleotide exchange factor | Noen ganger (5–29 %) | I 2 tilstander |
| TRIP12thyroid hormone receptor interactor 12 | Noen ganger (5–29 %) | I 1 tilstand |
| TRMT10AtRNA methyltransferase 10A | Noen ganger (5–29 %) | I 1 tilstand |
| TUBB3tubulin beta 3 class III | Noen ganger (5–29 %) | I 1 tilstand |
| TWIST1twist family bHLH transcription factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| UBE2Tubiquitin conjugating enzyme E2 T | Noen ganger (5–29 %) | I 1 tilstand |
| UBE3Aubiquitin protein ligase E3A | Noen ganger (5–29 %) | I 1 tilstand |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Noen ganger (5–29 %) | I 1 tilstand |
| UGDHUDP-glucose 6-dehydrogenase | Noen ganger (5–29 %) | I 1 tilstand |
| UGP2UDP-glucose pyrophosphorylase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| UHRF1ubiquitin like with PHD and ring finger domains 1 | Noen ganger (5–29 %) | I 1 tilstand |
| WACWW domain containing adaptor with coiled-coil | Noen ganger (5–29 %) | I 1 tilstand |
| WBP4WW domain binding protein 4 | Noen ganger (5–29 %) | I 1 tilstand |
| WDR83OSWD repeat domain 83 opposite strand | Noen ganger (5–29 %) | I 1 tilstand |
| XRCC2X-ray repair cross complementing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| XYLT1xylosyltransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ZBTB24zinc finger and BTB domain containing 24 | Noen ganger (5–29 %) | I 2 tilstander |
| ZNF292zinc finger protein 292 | Noen ganger (5–29 %) | I 1 tilstand |
| ZSCAN10zinc finger and SCAN domain containing 10 | Noen ganger (5–29 %) | I 1 tilstand |
| ACBD6acyl-CoA binding domain containing 6 | Sjelden (1–4%) | I 1 tilstand |
| ADA2adenosine deaminase 2 | Sjelden (1–4%) | I 1 tilstand |
| CNTNAP2contactin associated protein 2 | Sjelden (1–4%) | I 1 tilstand |
| EPG5ectopic P-granules 5 autophagy tethering factor | Sjelden (1–4%) | I 1 tilstand |
| GATA1GATA binding protein 1 | Sjelden (1–4%) | I 1 tilstand |
| HEATR3HEAT repeat containing 3 | Sjelden (1–4%) | I 1 tilstand |
| MAN1B1mannosidase alpha class 1B member 1 | Sjelden (1–4%) | I 1 tilstand |
| PAHphenylalanine hydroxylase | Sjelden (1–4%) | I 1 tilstand |
| RPL11ribosomal protein L11 | Sjelden (1–4%) | I 1 tilstand |
| RPL15ribosomal protein L15 | Sjelden (1–4%) | I 1 tilstand |
| RPL18ribosomal protein L18 | Sjelden (1–4%) | I 1 tilstand |
| RPL26ribosomal protein L26 | Sjelden (1–4%) | I 1 tilstand |
| RPL27ribosomal protein L27 | Sjelden (1–4%) | I 1 tilstand |
| RPL31ribosomal protein L31 | Sjelden (1–4%) | I 1 tilstand |
| RPL35ribosomal protein L35 | Sjelden (1–4%) | I 1 tilstand |
| RPL35Aribosomal protein L35a | Sjelden (1–4%) | I 1 tilstand |
| RPL5ribosomal protein L5 | Sjelden (1–4%) | I 1 tilstand |
| RPL8ribosomal protein L8 | Sjelden (1–4%) | I 1 tilstand |
| RPL9ribosomal protein L9 | Sjelden (1–4%) | I 1 tilstand |
| RPS10ribosomal protein S10 | Sjelden (1–4%) | I 1 tilstand |
| RPS15Aribosomal protein S15a | Sjelden (1–4%) | I 1 tilstand |
| RPS17ribosomal protein S17 | Sjelden (1–4%) | I 1 tilstand |
| RPS20ribosomal protein S20 | Sjelden (1–4%) | I 1 tilstand |
| RPS24ribosomal protein S24 | Sjelden (1–4%) | I 1 tilstand |
| RPS26ribosomal protein S26 | Sjelden (1–4%) | I 1 tilstand |
| RPS27ribosomal protein S27 | Sjelden (1–4%) | I 1 tilstand |
| RPS28ribosomal protein S28 | Sjelden (1–4%) | I 2 tilstander |
| RPS29ribosomal protein S29 | Sjelden (1–4%) | I 1 tilstand |
| RPS7ribosomal protein S7 | Sjelden (1–4%) | I 1 tilstand |
| TSR2TSR2 ribosome maturation factor | Sjelden (1–4%) | I 1 tilstand |
| ZEB2zinc finger E-box binding homeobox 2 | Sjelden (1–4%) | I 1 tilstand |
| AHI1Abelson helper integration site 1 | Ikke registrert | I 1 tilstand |
| ALDOAaldolase, fructose-bisphosphate A | Ikke registrert | I 1 tilstand |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Ikke registrert | I 1 tilstand |
| ATN1atrophin 1 | Ikke registrert | I 1 tilstand |
| B9D2B9 domain containing 2 | Ikke registrert | I 1 tilstand |
| BMPERBMP binding endothelial regulator | Ikke registrert | I 1 tilstand |
| BRAT1BRCA1 associated ATM activator 1 | Ikke registrert | I 1 tilstand |
| CASKcalcium/calmodulin dependent serine protein kinase | Ikke registrert | I 1 tilstand |
| CHD3chromodomain helicase DNA binding protein 3 | Ikke registrert | I 1 tilstand |
| CHD4chromodomain helicase DNA binding protein 4 | Ikke registrert | I 1 tilstand |
| CHRNA1cholinergic receptor nicotinic alpha 1 subunit | Ikke registrert | I 1 tilstand |
| CHRNDcholinergic receptor nicotinic delta subunit | Ikke registrert | I 1 tilstand |
| COL11A1collagen type XI alpha 1 chain | Ikke registrert | I 1 tilstand |
| DDR2discoidin domain receptor tyrosine kinase 2 | Ikke registrert | I 1 tilstand |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Ikke registrert | I 1 tilstand |
| DOCK3dedicator of cytokinesis 3 | Ikke registrert | I 1 tilstand |
| EEDembryonic ectoderm development | Ikke registrert | I 1 tilstand |
| EXOSC9exosome component 9 | Ikke registrert | I 1 tilstand |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Ikke registrert | I 1 tilstand |
| GLIS3GLIS family zinc finger 3 | Ikke registrert | I 1 tilstand |
| GPC6glypican 6 | Ikke registrert | I 1 tilstand |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Ikke registrert | I 1 tilstand |
| INPP5Einositol polyphosphate-5-phosphatase E | Ikke registrert | I 1 tilstand |
| LMBRD1LMBR1 domain containing 1 | Ikke registrert | I 1 tilstand |
| MAN2B1mannosidase alpha class 2B member 1 | Ikke registrert | I 1 tilstand |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Ikke registrert | I 1 tilstand |
| NANSN-acetylneuraminate synthase | Ikke registrert | I 1 tilstand |
| NOTCH2notch receptor 2 | Ikke registrert | I 1 tilstand |
| NRASNRAS proto-oncogene, GTPase | Ikke registrert | I 1 tilstand |
| OSGEPO-sialoglycoprotein endopeptidase | Ikke registrert | I 1 tilstand |
| PBX1PBX homeobox 1 | Ikke registrert | I 1 tilstand |
| PDHXpyruvate dehydrogenase complex component X | Ikke registrert | I 1 tilstand |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Ikke registrert | I 3 tilstander |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Ikke registrert | I 1 tilstand |
| PUS7pseudouridine synthase 7 | Ikke registrert | I 1 tilstand |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Ikke registrert | I 1 tilstand |
| RALARAS like proto-oncogene A | Ikke registrert | I 1 tilstand |
| SLC17A5solute carrier family 17 member 5 | Ikke registrert | I 1 tilstand |
| SNRPBsmall nuclear ribonucleoprotein polypeptides B and B1 | Ikke registrert | I 1 tilstand |
| SNX14sorting nexin 14 | Ikke registrert | I 1 tilstand |
| SOX18SRY-box transcription factor 18 | Ikke registrert | I 1 tilstand |
| SOX5SRY-box transcription factor 5 | Ikke registrert | I 1 tilstand |
| SPRED1sprouty related EVH1 domain containing 1 | Ikke registrert | I 1 tilstand |
| SRCAPSnf2 related CREBBP activator protein | Ikke registrert | I 1 tilstand |
| TCF20transcription factor 20 | Ikke registrert | I 1 tilstand |
| THUMPD1THUMP domain 1 NAT10 acetyltransferase adaptor | Ikke registrert | I 1 tilstand |
| TMEM237transmembrane protein 237 | Ikke registrert | I 1 tilstand |
| TRRAPtransformation/transcription domain associated protein | Ikke registrert | I 1 tilstand |
| UNC80unc-80 subunit of NALCN channel complex | Ikke registrert | I 1 tilstand |
| WDR73WD repeat domain 73 | Ikke registrert | I 1 tilstand |
| WNK3WNK lysine deficient protein kinase 3 | Ikke registrert | I 1 tilstand |
| WNT7AWnt family member 7A | Ikke registrert | I 1 tilstand |
| ZMIZ1zinc finger MIZ-type containing 1 | Ikke registrert | I 1 tilstand |
| ZNF469zinc finger protein 469 | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
Smalere egenskaper
Bredere egenskaper
Slik er informasjonen samlet
- Human Phenotype Ontology, versjon 2026-09-01: egenskapen, navnene på den, definisjonen og genene som er knyttet til den. Les mer på hpo.jax.org.
- Datautgave 2026.10.16-c6eea6bf.
Én test. En livstid med svar.
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