Træk
Wide nasal bridge
Increased breadth of the nasal bridge (and with it, the nasal root).
Resumé
- Også kaldet
- Broad flat nasal bridge, Broad nasal bridge, Broad nasal root, Broadened nasal bridge, Increased breadth of bridge of nose, Increased breadth of nasal bridge, Increased width of bridge of nose, Increased width of nasal bridge, Nasal bridge broad, Wide bridge of nose, Widened nasal bridge, Nasal bridge, wide
- Kropssystem
- Abnormality of head or neck
ReferencegenomGRCh38hg38
Positioner på gen- og variantsider følger dette valg i denne browser.
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Bestil min Genome Test538 gener knyttet til Wide nasal bridge
Ændringer i disse gener forårsager sjældne tilstande, hvor Wide nasal bridge 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 |
|---|---|---|
| AGO1argonaute RISC component 1 | Altid | I 1 tilstand |
| ALX1ALX homeobox 1 | Altid | I 2 tilstande |
| ALX3ALX homeobox 3 | Altid | I 1 tilstand |
| ALX4ALX homeobox 4 | Altid | I 1 tilstand |
| ANKHANKH inorganic pyrophosphate transport regulator | Altid | I 2 tilstande |
| AP3B1adaptor related protein complex 3 subunit beta 1 | Altid | I 1 tilstand |
| APC2APC regulator of Wnt signaling pathway 2 | Altid | I 1 tilstand |
| CAMSAP1calmodulin regulated spectrin associated protein 1 | Altid | I 1 tilstand |
| CDH11cadherin 11 | Altid | I 1 tilstand |
| CHD8chromodomain helicase DNA binding protein 8 | Altid | I 2 tilstande |
| CILK1ciliogenesis associated kinase 1 | Altid | I 2 tilstande |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Altid | I 2 tilstande |
| CREBBPCREB binding lysine acetyltransferase | Altid | I 1 tilstand |
| CRNKL1crooked neck pre-mRNA splicing factor 1 | Altid | I 1 tilstand |
| DHX9DExH-box helicase 9 | Altid | I 1 tilstand |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Altid | I 2 tilstande |
| DMRT2doublesex and mab-3 related transcription factor 2 | Altid | I 1 tilstand |
| DRG1developmentally regulated GTP binding protein 1 | Altid | I 1 tilstand |
| DVL1dishevelled segment polarity protein 1 | Altid | I 3 tilstande |
| DVL3dishevelled segment polarity protein 3 | Altid | I 2 tilstande |
| EIF4A2eukaryotic translation initiation factor 4A2 | Altid | I 1 tilstand |
| EP300EP300 lysine acetyltransferase | Altid | I 1 tilstand |
| ERI1exoribonuclease 1 | Altid | I 1 tilstand |
| ESAMendothelial cell adhesion molecule | Altid | I 1 tilstand |
| FBXO31F-box protein 31 | Altid | I 1 tilstand |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Altid | I 2 tilstande |
| FGFR1fibroblast growth factor receptor 1 | Altid | I 2 tilstande |
| FILIP1filamin A interacting protein 1 | Altid | I 1 tilstand |
| FLNAfilamin A | Altid | I 5 tilstande |
| FLVCR1FLVCR choline and heme transporter 1 | Altid | I 1 tilstand |
| GPC3glypican 3 | Altid | I 2 tilstande |
| HYAL2hyaluronidase 2 | Altid | I 1 tilstand |
| HYOU1hypoxia up-regulated 1 | Altid | I 1 tilstand |
| IDUAalpha-L-iduronidase | Altid | I 2 tilstande |
| IFT122intraflagellar transport 122 | Altid | I 1 tilstand |
| IFT140intraflagellar transport 140 | Altid | I 2 tilstande |
| IFT52intraflagellar transport 52 | Altid | I 1 tilstand |
| IRX5iroquois homeobox 5 | Altid | I 1 tilstand |
| JKAMPJNK1/MAPK8 associated membrane protein | Altid | I 1 tilstand |
| KDM1Alysine demethylase 1A | Altid | I 2 tilstande |
Vis 498 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| KIAA0753KIAA0753 | Altid | I 2 tilstande |
| KIF7kinesin family member 7 | Altid | I 3 tilstande |
| LIG4DNA ligase 4 | Altid | I 2 tilstande |
| LRRC7leucine rich repeat containing 7 | Altid | I 1 tilstand |
| LTBP1latent transforming growth factor beta binding protein 1 | Altid | I 1 tilstand |
| LTBP4latent transforming growth factor beta binding protein 4 | Altid | I 1 tilstand |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Altid | I 3 tilstande |
| MAPRE2microtubule associated protein RP/EB family member 2 | Altid | I 1 tilstand |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Altid | I 1 tilstand |
| MED12mediator complex subunit 12 | Altid | I 1 tilstand |
| MGPmatrix Gla protein | Altid | I 1 tilstand |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Altid | I 2 tilstande |
| MYH3myosin heavy chain 3 | Altid | I 3 tilstande |
| MYT1Lmyelin transcription factor 1 like | Altid | I 1 tilstand |
| NALCNsodium leak channel, non-selective | Altid | I 4 tilstande |
| NAV3neuron navigator 3 | Altid | I 1 tilstand |
| NBNnibrin | Altid | I 1 tilstand |
| NDE1nudE neurodevelopment protein 1 | Altid | I 2 tilstande |
| NFASCneurofascin | Altid | I 1 tilstand |
| NUDT2nudix hydrolase 2 | Altid | I 1 tilstand |
| NUP188nucleoporin 188 | Altid | I 1 tilstand |
| NUP88nucleoporin 88 | Altid | I 1 tilstand |
| OFD1OFD1 centriole and centriolar satellite protein | Altid | I 3 tilstande |
| PAX3paired box 3 | Altid | I 3 tilstande |
| PDGFRBplatelet derived growth factor receptor beta | Altid | I 1 tilstand |
| PEX10peroxisomal biogenesis factor 10 | Altid | I 3 tilstande |
| PEX12peroxisomal biogenesis factor 12 | Altid | I 3 tilstande |
| PEX14peroxisomal biogenesis factor 14 | Altid | I 3 tilstande |
| PEX19peroxisomal biogenesis factor 19 | Altid | I 3 tilstande |
| PGAP2post-GPI attachment to proteins 2 | Altid | I 2 tilstande |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Altid | I 2 tilstande |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Altid | I 2 tilstande |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Altid | I 2 tilstande |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Altid | I 2 tilstande |
| PPFIA3PPFI scaffold protein A3 | Altid | I 1 tilstand |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Altid | I 2 tilstande |
| RAC3Rac family small GTPase 3 | Altid | I 1 tilstand |
| RAD21RAD21 cohesin complex component | Altid | I 2 tilstande |
| RAPSNreceptor associated protein of the synapse | Altid | I 1 tilstand |
| RBL2RB transcriptional corepressor like 2 | Altid | I 1 tilstand |
| RIN2Ras and Rab interactor 2 | Altid | I 1 tilstand |
| RNU2-2RNA, U2 small nuclear 2 | Altid | I 1 tilstand |
| RSRC1arginine and serine rich coiled-coil 1 | Altid | I 1 tilstand |
| SCNM1sodium channel modifier 1 | Altid | I 1 tilstand |
| SCO2synthesis of cytochrome C oxidase 2 | Altid | I 1 tilstand |
| SEC23ASEC23 homolog A, COPII component | Altid | I 1 tilstand |
| SETD5SET domain containing 5 | Altid | I 1 tilstand |
| SIN3ASIN3 transcription regulator family member A | Altid | I 1 tilstand |
| SKIC2SKI2 subunit of superkiller complex | Altid | I 2 tilstande |
| SLC35A2solute carrier family 35 member A2 | Altid | I 1 tilstand |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Altid | I 1 tilstand |
| SNAP29synaptosome associated protein 29 | Altid | I 1 tilstand |
| SPOUT1SPOUT domain containing methyltransferase 1 | Altid | I 1 tilstand |
| SRD5A3steroid 5 alpha-reductase 3 | Altid | I 1 tilstand |
| STRADASTE20 related adaptor alpha | Altid | I 1 tilstand |
| TAF4TATA-box binding protein associated factor 4 | Altid | I 1 tilstand |
| TASP1taspase 1 | Altid | I 1 tilstand |
| TMCO1transmembrane and coiled-coil domains 1 | Altid | I 1 tilstand |
| TOR1Atorsin family 1 member A | Altid | I 1 tilstand |
| UBAP2Lubiquitin associated protein 2 like | Altid | I 1 tilstand |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Altid | I 1 tilstand |
| UNC13Aunc-13 homolog A | Altid | I 1 tilstand |
| VDRvitamin D receptor | Altid | I 1 tilstand |
| WDR19WD repeat domain 19 | Altid | I 1 tilstand |
| ZSWIM6zinc finger SWIM-type containing 6 | Altid | I 1 tilstand |
| ACTBactin beta | Meget ofte (80–99 %) | I 3 tilstande |
| ACTG1actin gamma 1 | Meget ofte (80–99 %) | I 1 tilstand |
| ADAMTS3ADAM metallopeptidase with thrombospondin type 1 motif 3 | Meget ofte (80–99 %) | I 1 tilstand |
| ADAMTSL2ADAMTS like 2 | Meget ofte (80–99 %) | I 1 tilstand |
| AGAaspartylglucosaminidase | Meget ofte (80–99 %) | I 1 tilstand |
| ARVCFARVCF delta catenin family member | Meget ofte (80–99 %) | I 1 tilstand |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | 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 1 tilstand |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Meget ofte (80–99 %) | I 1 tilstand |
| CASZ1castor zinc finger 1 | Meget ofte (80–99 %) | I 1 tilstand |
| CCBE1collagen and calcium binding EGF domains 1 | Meget ofte (80–99 %) | I 2 tilstande |
| CCDC22CCC complex scaffolding subunit CCDC22 | Meget ofte (80–99 %) | I 1 tilstand |
| CKAP2Lcytoskeleton associated protein 2L | Meget ofte (80–99 %) | I 2 tilstande |
| CLIP2CAP-Gly domain containing linker protein 2 | Meget ofte (80–99 %) | I 1 tilstand |
| COL11A1collagen type XI alpha 1 chain | 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 |
| DHCR77-dehydrocholesterol reductase | Meget ofte (80–99 %) | I 2 tilstande |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Meget ofte (80–99 %) | I 1 tilstand |
| DPYSL5dihydropyrimidinase like 5 | Meget ofte (80–99 %) | I 2 tilstande |
| EFNB1ephrin B1 | Meget ofte (80–99 %) | I 2 tilstande |
| EIF4Heukaryotic translation initiation factor 4H | Meget ofte (80–99 %) | I 1 tilstand |
| ELNelastin | Meget ofte (80–99 %) | I 1 tilstand |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Meget ofte (80–99 %) | I 1 tilstand |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Meget ofte (80–99 %) | I 1 tilstand |
| ERCC5ERCC excision repair 5, endonuclease | Meget ofte (80–99 %) | I 1 tilstand |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Meget ofte (80–99 %) | I 1 tilstand |
| FAT4FAT atypical cadherin 4 | Meget ofte (80–99 %) | I 3 tilstande |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Meget ofte (80–99 %) | I 1 tilstand |
| FZD2frizzled class receptor 2 | Meget ofte (80–99 %) | I 2 tilstande |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Meget ofte (80–99 %) | I 1 tilstand |
| GJA1gap junction protein alpha 1 | Meget ofte (80–99 %) | I 2 tilstande |
| 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 |
| 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 |
| HIRAhistone cell cycle regulator | Meget ofte (80–99 %) | I 1 tilstand |
| HSPG2heparan sulfate proteoglycan 2 | Meget ofte (80–99 %) | I 3 tilstande |
| INTS1integrator complex subunit 1 | Meget ofte (80–99 %) | I 1 tilstand |
| JMJD1Cjumonji domain containing 1C | Meget ofte (80–99 %) | I 1 tilstand |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Meget ofte (80–99 %) | I 1 tilstand |
| KCNMA1potassium calcium-activated channel subfamily M alpha 1 | Meget ofte (80–99 %) | I 1 tilstand |
| KDM6Alysine demethylase 6A | Meget ofte (80–99 %) | I 1 tilstand |
| KMT2Alysine methyltransferase 2A | Meget ofte (80–99 %) | I 2 tilstande |
| KMT2Dlysine methyltransferase 2D | Meget ofte (80–99 %) | I 2 tilstande |
| 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 |
| LMNAlamin A/C | Meget ofte (80–99 %) | I 1 tilstand |
| LUZP1leucine zipper protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| METTL27methyltransferase like 27 | Meget ofte (80–99 %) | I 1 tilstand |
| MID1midline 1 | Meget ofte (80–99 %) | I 2 tilstande |
| MMP23Bmatrix metallopeptidase 23B | 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 |
| NEU1neuraminidase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| NSD2nuclear receptor binding SET domain protein 2 | Meget ofte (80–99 %) | I 3 tilstande |
| NXNnucleoredoxin | Meget ofte (80–99 %) | I 2 tilstande |
| PDE4Dphosphodiesterase 4D | Meget ofte (80–99 %) | I 1 tilstand |
| PDPNpodoplanin | Meget ofte (80–99 %) | I 1 tilstand |
| PEX1peroxisomal biogenesis factor 1 | Meget ofte (80–99 %) | I 3 tilstande |
| PEX11Bperoxisomal biogenesis factor 11 beta | Meget ofte (80–99 %) | I 2 tilstande |
| PEX13peroxisomal biogenesis factor 13 | Meget ofte (80–99 %) | I 2 tilstande |
| PEX16peroxisomal biogenesis factor 16 | Meget ofte (80–99 %) | I 2 tilstande |
| PEX2peroxisomal biogenesis factor 2 | Meget ofte (80–99 %) | I 2 tilstande |
| PEX26peroxisomal biogenesis factor 26 | Meget ofte (80–99 %) | I 2 tilstande |
| 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 2 tilstande |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Meget ofte (80–99 %) | I 1 tilstand |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Meget ofte (80–99 %) | I 1 tilstand |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Meget ofte (80–99 %) | I 2 tilstande |
| PQBP1polyglutamine binding protein 1 | Meget ofte (80–99 %) | I 2 tilstande |
| PRDM16PR/SET domain 16 | Meget ofte (80–99 %) | I 1 tilstand |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Meget ofte (80–99 %) | I 1 tilstand |
| PRKCZprotein kinase C zeta | Meget ofte (80–99 %) | I 1 tilstand |
| PTH1Rparathyroid hormone 1 receptor | Meget ofte (80–99 %) | I 1 tilstand |
| RAB18RAB18, member RAS oncogene family | Meget ofte (80–99 %) | I 1 tilstand |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Meget ofte (80–99 %) | I 2 tilstande |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Meget ofte (80–99 %) | I 1 tilstand |
| RAI1retinoic acid induced 1 | Meget ofte (80–99 %) | I 2 tilstande |
| RB1RB transcriptional corepressor 1 | Meget ofte (80–99 %) | I 1 tilstand |
| RELREL proto-oncogene, NF-kB subunit | Meget ofte (80–99 %) | I 1 tilstand |
| REREarginine-glutamic acid dipeptide repeats | Meget ofte (80–99 %) | I 1 tilstand |
| RFC2replication factor C subunit 2 | Meget ofte (80–99 %) | I 1 tilstand |
| ROR2ROR family WNT receptor 2 | Meget ofte (80–99 %) | I 2 tilstande |
| RREB1ras responsive element binding protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| SEC24CSEC24 homolog C, COPII component | Meget ofte (80–99 %) | I 1 tilstand |
| SEMA5Asemaphorin 5A | Meget ofte (80–99 %) | I 1 tilstand |
| SH3PXD2BSH3 and PX domains 2B | Meget ofte (80–99 %) | I 1 tilstand |
| SHOXSHOX homeobox | Meget ofte (80–99 %) | I 1 tilstand |
| SKISKI proto-oncogene | Meget ofte (80–99 %) | I 1 tilstand |
| SOSTsclerostin | Meget ofte (80–99 %) | I 3 tilstande |
| SP7Sp7 transcription factor | Meget ofte (80–99 %) | I 1 tilstand |
| SPENspen family transcriptional repressor | Meget ofte (80–99 %) | I 2 tilstande |
| STX1Asyntaxin 1A | Meget ofte (80–99 %) | I 1 tilstand |
| TBC1D20TBC1 domain family member 20 | Meget ofte (80–99 %) | I 1 tilstand |
| TBC1D24TBC1 domain family member 24 | Meget ofte (80–99 %) | I 2 tilstande |
| TBC1D7TBC1 domain family member 7 | 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 1 tilstand |
| TMEM270transmembrane protein 270 | Meget ofte (80–99 %) | I 1 tilstand |
| TRAPPC9trafficking protein particle complex subunit 9 | Meget ofte (80–99 %) | I 2 tilstande |
| TWIST2twist family bHLH transcription factor 2 | Meget ofte (80–99 %) | I 2 tilstande |
| UBE4Bubiquitination factor E4B | Meget ofte (80–99 %) | I 1 tilstand |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Meget ofte (80–99 %) | I 1 tilstand |
| VPS35LVPS35 endosomal protein sorting factor like | Meget ofte (80–99 %) | I 1 tilstand |
| VPS37DVPS37D subunit of ESCRT-I | Meget ofte (80–99 %) | I 1 tilstand |
| WASHC5WASH complex subunit 5 | Meget ofte (80–99 %) | I 1 tilstand |
| WNT5AWnt family member 5A | Meget ofte (80–99 %) | I 2 tilstande |
| XPO1exportin 1 | Meget ofte (80–99 %) | I 1 tilstand |
| ABCC9ATP binding cassette subfamily C member 9 | Ofte (30–79 %) | I 2 tilstande |
| ADAMTSL1ADAMTS like 1 | Ofte (30–79 %) | I 1 tilstand |
| ADNPactivity dependent neuroprotector homeobox | Ofte (30–79 %) | I 1 tilstand |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Ofte (30–79 %) | I 2 tilstande |
| AMER1APC membrane recruitment protein 1 | Ofte (30–79 %) | I 2 tilstande |
| ARID1BAT-rich interaction domain 1B | Ofte (30–79 %) | I 1 tilstand |
| ARSKarylsulfatase family member K | Ofte (30–79 %) | I 1 tilstand |
| ASXL1ASXL transcriptional regulator 1 | Ofte (30–79 %) | I 2 tilstande |
| ASXL3ASXL transcriptional regulator 3 | Ofte (30–79 %) | I 1 tilstand |
| ATP6V1AATPase H+ transporting V1 subunit A | Ofte (30–79 %) | I 1 tilstand |
| AUTS2activator of transcription and developmental regulator AUTS2 | Ofte (30–79 %) | I 2 tilstande |
| B4GALT1beta-1,4-galactosyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| B4GALT7beta-1,4-galactosyltransferase 7 | Ofte (30–79 %) | I 2 tilstande |
| BPTFbromodomain PHD finger transcription factor | Ofte (30–79 %) | I 1 tilstand |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Ofte (30–79 %) | I 1 tilstand |
| C1GALT1C1C1GALT1 specific chaperone 1 | Ofte (30–79 %) | I 1 tilstand |
| CASKcalcium/calmodulin dependent serine protein kinase | Ofte (30–79 %) | I 3 tilstande |
| CCNQcyclin Q | Ofte (30–79 %) | I 1 tilstand |
| CDK10cyclin dependent kinase 10 | Ofte (30–79 %) | I 1 tilstand |
| COG1component of oligomeric golgi complex 1 | Ofte (30–79 %) | I 2 tilstande |
| COX7Bcytochrome c oxidase subunit 7B | Ofte (30–79 %) | I 1 tilstand |
| CTNNB1catenin beta 1 | Ofte (30–79 %) | I 1 tilstand |
| DOT1LDOT1 like histone lysine methyltransferase | Ofte (30–79 %) | I 1 tilstand |
| DPH5diphthamide biosynthesis 5 | Ofte (30–79 %) | I 1 tilstand |
| EBF3EBF transcription factor 3 | Ofte (30–79 %) | I 1 tilstand |
| EDN3endothelin 3 | Ofte (30–79 %) | I 1 tilstand |
| EDNRBendothelin receptor type B | Ofte (30–79 %) | I 1 tilstand |
| ERFETS2 repressor factor | Ofte (30–79 %) | I 1 tilstand |
| EXOC2exocyst complex component 2 | Ofte (30–79 %) | I 1 tilstand |
| FBN1fibrillin 1 | Ofte (30–79 %) | I 1 tilstand |
| FGF3fibroblast growth factor 3 | Ofte (30–79 %) | I 1 tilstand |
| FGFRL1fibroblast growth factor receptor like 1 | Ofte (30–79 %) | I 1 tilstand |
| FOXL2forkhead box L2 | Ofte (30–79 %) | I 2 tilstande |
| FREM1FRAS1 related extracellular matrix 1 | Ofte (30–79 %) | I 2 tilstande |
| FUT8fucosyltransferase 8 | Ofte (30–79 %) | I 1 tilstand |
| GATA4GATA binding protein 4 | Ofte (30–79 %) | I 1 tilstand |
| GLI3GLI family zinc finger 3 | Ofte (30–79 %) | I 2 tilstande |
| GLULglutamate-ammonia ligase | Ofte (30–79 %) | I 1 tilstand |
| GON4Lgon-4 like | Ofte (30–79 %) | I 1 tilstand |
| GPC4glypican 4 | Ofte (30–79 %) | I 1 tilstand |
| GPRASP2G protein-coupled receptor associated sorting protein 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 |
| HCCSholocytochrome c synthase | Ofte (30–79 %) | I 1 tilstand |
| HIVEP2HIVEP zinc finger 2 | Ofte (30–79 %) | I 1 tilstand |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Ofte (30–79 %) | I 2 tilstande |
| IGF1Rinsulin like growth factor 1 receptor | Ofte (30–79 %) | I 2 tilstande |
| KAT6Blysine acetyltransferase 6B | Ofte (30–79 %) | I 1 tilstand |
| KATNB1katanin regulatory subunit B1 | 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 |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Ofte (30–79 %) | I 1 tilstand |
| KICS2KICSTOR subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| KIF14kinesin family member 14 | Ofte (30–79 %) | I 1 tilstand |
| KNSTRNkinetochore localized astrin (SPAG5) binding protein | Ofte (30–79 %) | I 2 tilstande |
| LTBP3latent transforming growth factor beta binding protein 3 | Ofte (30–79 %) | I 1 tilstand |
| MAN1B1mannosidase alpha class 1B member 1 | Ofte (30–79 %) | I 2 tilstande |
| MARS2methionyl-tRNA synthetase 2, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| MED13Lmediator complex subunit 13L | Ofte (30–79 %) | I 1 tilstand |
| MEGF8multiple EGF like domains 8 | Ofte (30–79 %) | I 1 tilstand |
| MITFmelanocyte inducing transcription factor | Ofte (30–79 %) | I 2 tilstande |
| MKS1MKS transition zone complex subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| MYRFmyelin regulatory factor | Ofte (30–79 %) | I 1 tilstand |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Ofte (30–79 %) | I 1 tilstand |
| NECTIN1nectin cell adhesion molecule 1 | Ofte (30–79 %) | I 1 tilstand |
| NEK1NIMA related kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| NOGnoggin | Ofte (30–79 %) | I 1 tilstand |
| PACS2phosphofurin acidic cluster sorting protein 2 | Ofte (30–79 %) | I 1 tilstand |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Ofte (30–79 %) | I 1 tilstand |
| PAX1paired box 1 | Ofte (30–79 %) | I 1 tilstand |
| PCNTpericentrin | Ofte (30–79 %) | I 1 tilstand |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Ofte (30–79 %) | I 1 tilstand |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Ofte (30–79 %) | I 1 tilstand |
| PIK3C2Aphosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | Ofte (30–79 %) | I 2 tilstande |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Ofte (30–79 %) | I 2 tilstande |
| PKDCCprotein kinase domain containing, cytoplasmic | Ofte (30–79 %) | I 1 tilstand |
| PLK4polo like kinase 4 | Ofte (30–79 %) | I 1 tilstand |
| POLR1BRNA polymerase I subunit B | Ofte (30–79 %) | I 1 tilstand |
| POLR1CRNA polymerase I and III subunit C | Ofte (30–79 %) | I 1 tilstand |
| POLR1DRNA polymerase I and III subunit D | Ofte (30–79 %) | I 1 tilstand |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Ofte (30–79 %) | I 1 tilstand |
| PRKG2protein kinase cGMP-dependent 2 | Ofte (30–79 %) | I 1 tilstand |
| PTCH1patched 1 | Ofte (30–79 %) | I 3 tilstande |
| PTCH2patched 2 | Ofte (30–79 %) | I 1 tilstand |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Ofte (30–79 %) | I 1 tilstand |
| PUF60poly(U) binding splicing factor 60 | Ofte (30–79 %) | I 3 tilstande |
| 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 1 tilstand |
| RBM10RNA binding motif protein 10 | Ofte (30–79 %) | I 2 tilstande |
| RELNreelin | Ofte (30–79 %) | I 1 tilstand |
| RHOAras homolog family member A | Ofte (30–79 %) | I 1 tilstand |
| RLIMring finger protein, LIM domain interacting | Ofte (30–79 %) | I 1 tilstand |
| RUNX2RUNX family transcription factor 2 | Ofte (30–79 %) | I 1 tilstand |
| SETD2SET domain containing 2, histone lysine methyltransferase | Ofte (30–79 %) | I 1 tilstand |
| SKIC3SKI3 subunit of superkiller complex | Ofte (30–79 %) | I 1 tilstand |
| SLC12A6solute carrier family 12 member 6 | Ofte (30–79 %) | I 1 tilstand |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Ofte (30–79 %) | I 1 tilstand |
| SMG9SMG9 nonsense mediated mRNA decay factor | Ofte (30–79 %) | I 2 tilstande |
| SOX10SRY-box transcription factor 10 | Ofte (30–79 %) | I 2 tilstande |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Ofte (30–79 %) | I 2 tilstande |
| STAT3signal transducer and activator of transcription 3 | Ofte (30–79 %) | I 1 tilstand |
| STRA6signaling receptor and transporter of retinol STRA6 | Ofte (30–79 %) | I 1 tilstand |
| STT3ASTT3 oligosaccharyltransferase complex catalytic subunit A | Ofte (30–79 %) | I 1 tilstand |
| SUFUSUFU negative regulator of hedgehog signaling | Ofte (30–79 %) | I 1 tilstand |
| SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit | Ofte (30–79 %) | I 2 tilstande |
| TBX6T-box transcription factor 6 | Ofte (30–79 %) | I 1 tilstand |
| TCOF1treacle ribosome biogenesis factor 1 | Ofte (30–79 %) | I 1 tilstand |
| TFAP2Atranscription factor AP-2 alpha | Ofte (30–79 %) | I 1 tilstand |
| TNNI2troponin I2, fast skeletal type | Ofte (30–79 %) | I 2 tilstande |
| TNNT3troponin T3, fast skeletal type | Ofte (30–79 %) | I 1 tilstand |
| TOE1target of EGR1, exonuclease | Ofte (30–79 %) | I 2 tilstande |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Ofte (30–79 %) | I 1 tilstand |
| TPM2tropomyosin 2 | Ofte (30–79 %) | I 1 tilstand |
| TPRtranslocated promoter region, nuclear basket protein | Ofte (30–79 %) | I 1 tilstand |
| TRIM33tripartite motif containing 33 | Ofte (30–79 %) | I 1 tilstand |
| TRIM37tripartite motif containing 37 | Ofte (30–79 %) | I 2 tilstande |
| TRMT1tRNA methyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| TUBGCP4tubulin gamma complex component 4 | Ofte (30–79 %) | I 1 tilstand |
| TUBGCP6tubulin gamma complex component 6 | Ofte (30–79 %) | I 1 tilstand |
| TWIST1twist family bHLH transcription factor 1 | Ofte (30–79 %) | I 1 tilstand |
| UMPSuridine monophosphate synthetase | Ofte (30–79 %) | I 1 tilstand |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Ofte (30–79 %) | I 1 tilstand |
| WLSWnt ligand secretion mediator | Ofte (30–79 %) | I 1 tilstand |
| YARS1tyrosyl-tRNA synthetase 1 | Ofte (30–79 %) | I 1 tilstand |
| ZEB2zinc finger E-box binding homeobox 2 | Ofte (30–79 %) | I 3 tilstande |
| AGO2argonaute RISC catalytic component 2 | Nogle gange (5–29 %) | I 1 tilstand |
| AHDC1AT-hook DNA binding motif containing 1 | Nogle gange (5–29 %) | I 1 tilstand |
| AP4B1adaptor related protein complex 4 subunit beta 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ARMC9armadillo repeat containing 9 | Nogle gange (5–29 %) | I 1 tilstand |
| BCAS3BCAS3 microtubule associated cell migration factor | Nogle gange (5–29 %) | I 1 tilstand |
| BMP2bone morphogenetic protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| BPNT23'(2'), 5'-bisphosphate nucleotidase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| BRF1BRF1 general transcription factor IIIB subunit | Nogle gange (5–29 %) | I 1 tilstand |
| CDC42cell division cycle 42 | Nogle gange (5–29 %) | I 2 tilstande |
| CDK13cyclin dependent kinase 13 | Nogle gange (5–29 %) | I 1 tilstand |
| CHN1chimerin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| COG5component of oligomeric golgi complex 5 | Nogle gange (5–29 %) | I 1 tilstand |
| CSNK2A1casein kinase 2 alpha 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CTCFCCCTC-binding factor | Nogle gange (5–29 %) | I 1 tilstand |
| CTSDcathepsin D | Nogle gange (5–29 %) | I 1 tilstand |
| DCHS1dachsous cadherin-related 1 | Nogle gange (5–29 %) | I 2 tilstande |
| DHRS3dehydrogenase/reductase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| DLK1delta like non-canonical Notch ligand 1 | Nogle gange (5–29 %) | I 1 tilstand |
| EDEM3ER degradation enhancing alpha-mannosidase like protein 3 | Nogle gange (5–29 %) | I 1 tilstand |
| EXT1exostosin glycosyltransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| FANCLFA complementation group L | Nogle gange (5–29 %) | I 1 tilstand |
| FBXL3F-box and leucine rich repeat protein 3 | 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 |
| FEM1Bfem-1 homolog B | Nogle gange (5–29 %) | I 1 tilstand |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Nogle gange (5–29 %) | I 1 tilstand |
| FOXC1forkhead box C1 | Nogle gange (5–29 %) | I 1 tilstand |
| FRAS1Fraser extracellular matrix complex subunit 1 | Nogle gange (5–29 %) | I 2 tilstande |
| FREM2FRAS1 related extracellular matrix 2 | Nogle gange (5–29 %) | I 1 tilstand |
| FRMPD4FERM and PDZ domain containing 4 | Nogle gange (5–29 %) | I 1 tilstand |
| GABBR1gamma-aminobutyric acid type B receptor subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GAD1glutamate decarboxylase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GNPNAT1glucosamine-phosphate N-acetyltransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GRIP1glutamate receptor interacting protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GTF3C3general transcription factor IIIC subunit 3 | Nogle gange (5–29 %) | I 1 tilstand |
| H4C5H4 clustered histone 5 | Nogle gange (5–29 %) | I 1 tilstand |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Nogle gange (5–29 %) | I 1 tilstand |
| HNRNPRheterogeneous nuclear ribonucleoprotein R | Nogle gange (5–29 %) | I 1 tilstand |
| HS2ST1heparan sulfate 2-O-sulfotransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| JARID2jumonji and AT-rich interaction domain containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNJ2potassium inwardly rectifying channel subfamily J member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNJ5potassium inwardly rectifying channel subfamily J member 5 | Nogle gange (5–29 %) | I 1 tilstand |
| KDM2Blysine demethylase 2B | Nogle gange (5–29 %) | I 1 tilstand |
| KDM4Blysine demethylase 4B | Nogle gange (5–29 %) | I 1 tilstand |
| KIF11kinesin family member 11 | Nogle gange (5–29 %) | I 1 tilstand |
| KIFBPkinesin family binding protein | Nogle gange (5–29 %) | I 2 tilstande |
| KITKIT proto-oncogene, receptor tyrosine kinase | Nogle gange (5–29 %) | I 1 tilstand |
| KMT5Blysine methyltransferase 5B | Nogle gange (5–29 %) | I 1 tilstand |
| KPTNkaptin, actin binding protein | Nogle gange (5–29 %) | I 1 tilstand |
| KRASKRas proto-oncogene, GTPase | Nogle gange (5–29 %) | I 1 tilstand |
| KREMEN1kringle containing transmembrane protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| LGI1leucine rich glioma inactivated 1 | Nogle gange (5–29 %) | I 1 tilstand |
| LMNB1lamin B1 | Nogle gange (5–29 %) | I 1 tilstand |
| LRPPRCleucine rich pentatricopeptide repeat containing | Nogle gange (5–29 %) | I 1 tilstand |
| LZTR1leucine zipper like post translational regulator 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MAFBMAF bZIP transcription factor B | Nogle gange (5–29 %) | I 2 tilstande |
| MAPK1mitogen-activated protein kinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MARK2microtubule affinity regulating kinase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MECP2methyl-CpG binding protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MEG3maternally expressed 3 | Nogle gange (5–29 %) | I 1 tilstand |
| MPV17mitochondrial inner membrane protein MPV17 | Nogle gange (5–29 %) | I 1 tilstand |
| NOTCH2notch receptor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| NSUN2NOP2/Sun RNA methyltransferase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| OPHN1oligophrenin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PAHphenylalanine hydroxylase | Nogle gange (5–29 %) | I 1 tilstand |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Nogle gange (5–29 %) | I 2 tilstande |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Nogle gange (5–29 %) | I 2 tilstande |
| PITX2paired like homeodomain 2 | Nogle gange (5–29 %) | I 2 tilstande |
| POLR1ARNA polymerase I subunit A | Nogle gange (5–29 %) | I 1 tilstand |
| PRKDCprotein kinase, DNA-activated, catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| PRMT7protein arginine methyltransferase 7 | Nogle gange (5–29 %) | I 1 tilstand |
| PURApurine rich element binding protein A | Nogle gange (5–29 %) | I 2 tilstande |
| RAB34RAB34, member RAS oncogene family | Nogle gange (5–29 %) | I 1 tilstand |
| RFX7regulatory factor X7 | Nogle gange (5–29 %) | I 1 tilstand |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Nogle gange (5–29 %) | I 1 tilstand |
| RPL10ribosomal protein L10 | Nogle gange (5–29 %) | I 1 tilstand |
| RTL1retrotransposon Gag like 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RTTNrotatin | Nogle gange (5–29 %) | I 1 tilstand |
| RYR1ryanodine receptor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SALL4spalt like transcription factor 4 | Nogle gange (5–29 %) | I 1 tilstand |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Nogle gange (5–29 %) | I 2 tilstande |
| SEPHS1selenophosphate synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SETSET nuclear proto-oncogene | Nogle gange (5–29 %) | I 1 tilstand |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC1A4solute carrier family 1 member 4 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC35C1solute carrier family 35 member C1 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC4A10solute carrier family 4 member 10 | Nogle gange (5–29 %) | I 1 tilstand |
| SNAI2snail family transcriptional repressor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SNX14sorting nexin 14 | Nogle gange (5–29 %) | I 1 tilstand |
| SONSON DNA and RNA binding protein | Nogle gange (5–29 %) | I 2 tilstande |
| SOX6SRY-box transcription factor 6 | Nogle gange (5–29 %) | I 1 tilstand |
| SPTBN1spectrin beta, non-erythrocytic 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SVBPsmall vasohibin binding protein | Nogle gange (5–29 %) | I 1 tilstand |
| TBCKTBC1 domain containing kinase | Nogle gange (5–29 %) | I 2 tilstande |
| TMEM53transmembrane protein 53 | Nogle gange (5–29 %) | I 1 tilstand |
| TP63tumor protein p63 | Nogle gange (5–29 %) | I 2 tilstande |
| TRIOtrio Rho guanine nucleotide exchange factor | Nogle gange (5–29 %) | I 1 tilstand |
| TRPS1transcriptional repressor GATA binding 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TRPV6transient receptor potential cation channel subfamily V member 6 | Nogle gange (5–29 %) | I 1 tilstand |
| TXNL4Athioredoxin like 4A | Nogle gange (5–29 %) | I 1 tilstand |
| USP9Xubiquitin specific peptidase 9 X-linked | Nogle gange (5–29 %) | I 2 tilstande |
| WACWW domain containing adaptor with coiled-coil | Nogle gange (5–29 %) | I 1 tilstand |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Nogle gange (5–29 %) | I 1 tilstand |
| ZMYM2zinc finger MYM-type containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ZSCAN10zinc finger and SCAN domain containing 10 | Nogle gange (5–29 %) | I 1 tilstand |
| ADA2adenosine deaminase 2 | Sjældent (1–4%) | I 1 tilstand |
| AP2M1adaptor related protein complex 2 subunit mu 1 | Sjældent (1–4%) | I 1 tilstand |
| CHD2chromodomain helicase DNA binding protein 2 | 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 |
| MED16mediator complex subunit 16 | Sjældent (1–4%) | I 1 tilstand |
| NEXMIFneurite extension and migration factor | Sjældent (1–4%) | I 1 tilstand |
| RNU4-2RNA, U4 small nuclear 2 | Sjældent (1–4%) | I 1 tilstand |
| RPL11ribosomal protein L11 | Sjældent (1–4%) | I 1 tilstand |
| RPL15ribosomal protein L15 | Sjældent (1–4%) | I 1 tilstand |
| RPL18ribosomal protein L18 | Sjældent (1–4%) | I 1 tilstand |
| RPL26ribosomal protein L26 | Sjældent (1–4%) | I 1 tilstand |
| RPL27ribosomal protein L27 | Sjældent (1–4%) | I 1 tilstand |
| RPL31ribosomal protein L31 | Sjældent (1–4%) | I 1 tilstand |
| RPL35ribosomal protein L35 | Sjældent (1–4%) | I 1 tilstand |
| RPL35Aribosomal protein L35a | Sjældent (1–4%) | I 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 |
| RPS19ribosomal protein S19 | Sjældent (1–4%) | I 1 tilstand |
| RPS20ribosomal protein S20 | Sjældent (1–4%) | I 1 tilstand |
| RPS24ribosomal protein S24 | Sjældent (1–4%) | I 1 tilstand |
| RPS26ribosomal protein S26 | Sjældent (1–4%) | I 1 tilstand |
| RPS27ribosomal protein S27 | Sjældent (1–4%) | I 1 tilstand |
| RPS28ribosomal protein S28 | Sjældent (1–4%) | I 1 tilstand |
| RPS29ribosomal protein S29 | Sjældent (1–4%) | I 1 tilstand |
| RPS7ribosomal protein S7 | Sjældent (1–4%) | I 2 tilstande |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Sjældent (1–4%) | I 1 tilstand |
| SLC2A1solute carrier family 2 member 1 | Sjældent (1–4%) | I 1 tilstand |
| SLC6A1solute carrier family 6 member 1 | Sjældent (1–4%) | I 1 tilstand |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Sjældent (1–4%) | I 1 tilstand |
| TSR2TSR2 ribosome maturation factor | Sjældent (1–4%) | I 1 tilstand |
| ACOX1acyl-CoA oxidase 1 | Ikke registreret | I 1 tilstand |
| ACY1aminoacylase 1 | Ikke registreret | I 1 tilstand |
| AHI1Abelson helper integration site 1 | Ikke registreret | I 1 tilstand |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Ikke registreret | I 1 tilstand |
| AP4E1adaptor related protein complex 4 subunit epsilon 1 | Ikke registreret | I 1 tilstand |
| AP4S1adaptor related protein complex 4 subunit sigma 1 | Ikke registreret | I 1 tilstand |
| ARXaristaless related homeobox | Ikke registreret | I 1 tilstand |
| ATAD3AATPase family AAA domain containing 3A | Ikke registreret | I 1 tilstand |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Ikke registreret | I 1 tilstand |
| ATRXATRX chromatin remodeler | Ikke registreret | I 1 tilstand |
| CCNKcyclin K | Ikke registreret | I 1 tilstand |
| CD96CD96 molecule | Ikke registreret | I 1 tilstand |
| CENPFcentromere protein F | Ikke registreret | I 1 tilstand |
| CHD3chromodomain helicase DNA binding protein 3 | Ikke registreret | I 1 tilstand |
| COL27A1collagen type XXVII alpha 1 chain | Ikke registreret | I 1 tilstand |
| COLEC11collectin subfamily member 11 | Ikke registreret | I 1 tilstand |
| DDX3XDEAD-box helicase 3 X-linked | Ikke registreret | I 1 tilstand |
| EDNRAendothelin receptor type A | Ikke registreret | I 1 tilstand |
| EEDembryonic ectoderm development | Ikke registreret | I 1 tilstand |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Ikke registreret | I 1 tilstand |
| FLNBfilamin B | Ikke registreret | I 1 tilstand |
| G6PC3glucose-6-phosphatase catalytic subunit 3 | Ikke registreret | I 1 tilstand |
| GATAD2BGATA zinc finger domain containing 2B | Ikke registreret | I 1 tilstand |
| GNPATglyceronephosphate O-acyltransferase | Ikke registreret | I 1 tilstand |
| GPC6glypican 6 | Ikke registreret | I 1 tilstand |
| IFT57intraflagellar transport 57 | Ikke registreret | I 1 tilstand |
| LARP7La ribonucleoprotein 7, transcriptional regulator | Ikke registreret | I 1 tilstand |
| MAFMAF bZIP transcription factor | Ikke registreret | I 1 tilstand |
| MED13mediator complex subunit 13 | Ikke registreret | I 1 tilstand |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Ikke registreret | I 1 tilstand |
| NRASNRAS proto-oncogene, GTPase | Ikke registreret | I 1 tilstand |
| OTUD6BOTU deubiquitinase 6B | Ikke registreret | I 1 tilstand |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Ikke registreret | I 1 tilstand |
| PBX1PBX homeobox 1 | Ikke registreret | I 1 tilstand |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Ikke registreret | I 1 tilstand |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Ikke registreret | I 1 tilstand |
| PUS7pseudouridine synthase 7 | Ikke registreret | I 1 tilstand |
| RALARAS like proto-oncogene A | Ikke registreret | I 1 tilstand |
| RARBretinoic acid receptor beta | 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 |
| SRCAPSnf2 related CREBBP activator protein | Ikke registreret | I 1 tilstand |
| STAG2STAG2 cohesin complex component | Ikke registreret | I 1 tilstand |
| TAPT1transmembrane anterior posterior transformation 1 | Ikke registreret | I 1 tilstand |
| TCF4transcription factor 4 | Ikke registreret | I 1 tilstand |
| TENT5Aterminal nucleotidyltransferase 5A | Ikke registreret | I 1 tilstand |
| TMEM70transmembrane protein 70 | Ikke registreret | I 1 tilstand |
| TMEM94transmembrane protein 94 | Ikke registreret | I 1 tilstand |
| TNPO2transportin 2 | Ikke registreret | I 1 tilstand |
| TRRAPtransformation/transcription domain associated protein | Ikke registreret | I 1 tilstand |
| WDR35WD repeat domain 35 | 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 |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
Bredere træk
Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
Én test. Svar for hele livet.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger