Træk
Hole in heart wall separating two lower heart chambers
Klinisk navn: Ventricular septal defect
A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.
Resumé
- Også kaldet
- Ventricular septal defects, Ventriculoseptal defect, VSD
- Kropssystem
- Abnormality of the cardiovascular system
ReferencegenomGRCh38hg38
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Bestil min Genome Test523 gener knyttet til Hole in heart wall separating two lower heart chambers
Ændringer i disse gener forårsager sjældne tilstande, hvor Hole in heart wall separating two lower heart chambers 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 |
|---|---|---|
| AMOTL1angiomotin like 1 | Altid | I 1 tilstand |
| CHD7chromodomain helicase DNA binding protein 7 | Altid | I 1 tilstand |
| COQ4coenzyme Q4 | Altid | I 1 tilstand |
| CTCFCCCTC-binding factor | Altid | I 1 tilstand |
| DDX11DEAD/H-box helicase 11 | Altid | I 1 tilstand |
| DNMT3ADNA methyltransferase 3 alpha | Altid | I 1 tilstand |
| ECE1endothelin converting enzyme 1 | Altid | I 1 tilstand |
| ERI1exoribonuclease 1 | Altid | I 1 tilstand |
| FAAP100FA core complex associated protein 100 | Altid | I 1 tilstand |
| FANCCFA complementation group C | Altid | I 1 tilstand |
| FANCIFA complementation group I | Altid | I 1 tilstand |
| FIBPFGF1 intracellular binding protein | Altid | I 2 tilstande |
| FLNAfilamin A | Altid | I 1 tilstand |
| GPC3glypican 3 | Altid | I 2 tilstande |
| LARS2leucyl-tRNA synthetase 2, mitochondrial | Altid | I 1 tilstand |
| NKX2-5NK2 homeobox 5 | Altid | I 3 tilstande |
| NOTCH3notch receptor 3 | Altid | I 3 tilstande |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Altid | I 1 tilstand |
| PKD1L1polycystin 1 like 1, transient receptor potential channel interacting | Altid | I 1 tilstand |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Altid | I 1 tilstand |
| RFC4replication factor C subunit 4 | Altid | I 1 tilstand |
| RNU2-2RNA, U2 small nuclear 2 | Altid | I 1 tilstand |
| RNU5B-1RNA, U5B small nuclear 1 | Altid | I 1 tilstand |
| RPL15ribosomal protein L15 | Altid | I 2 tilstande |
| RYR1ryanodine receptor 1 | Altid | I 1 tilstand |
| SMG9SMG9 nonsense mediated mRNA decay factor | Altid | I 2 tilstande |
| SNAPINSNAP associated protein | Altid | I 1 tilstand |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Altid | I 2 tilstande |
| SRSF1serine and arginine rich splicing factor 1 | Altid | I 1 tilstand |
| TBC1D32TBC1 domain family member 32 | Altid | I 1 tilstand |
| TM2D3TM2 domain containing 3 | Altid | I 1 tilstand |
| TMEM260transmembrane protein 260 | Altid | I 1 tilstand |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Altid | I 1 tilstand |
| ARVCFARVCF delta catenin family member | Meget ofte (80–99 %) | I 1 tilstand |
| COMTcatechol-O-methyltransferase | Meget ofte (80–99 %) | I 1 tilstand |
| DTNAdystrobrevin alpha | Meget ofte (80–99 %) | I 1 tilstand |
| GATA6GATA binding protein 6 | Meget ofte (80–99 %) | I 2 tilstande |
| GP1BBglycoprotein Ib platelet subunit beta | Meget ofte (80–99 %) | I 1 tilstand |
| GPC4glypican 4 | Meget ofte (80–99 %) | I 1 tilstand |
| HIRAhistone cell cycle regulator | Meget ofte (80–99 %) | I 1 tilstand |
Vis 483 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| HRASHRas proto-oncogene, GTPase | Meget ofte (80–99 %) | I 2 tilstande |
| HYMAIhydatidiform mole associated and imprinted | Meget ofte (80–99 %) | I 1 tilstand |
| JMJD1Cjumonji domain containing 1C | Meget ofte (80–99 %) | I 1 tilstand |
| PLAGL1PLAG1 like zinc finger 1 | Meget ofte (80–99 %) | I 1 tilstand |
| PPP2R3Cprotein phosphatase 2 regulatory subunit B''gamma | Meget ofte (80–99 %) | I 1 tilstand |
| 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 |
| SLC29A3solute carrier family 29 member 3 | Meget ofte (80–99 %) | I 2 tilstande |
| TBX1T-box transcription factor 1 | Meget ofte (80–99 %) | I 4 tilstande |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Meget ofte (80–99 %) | I 1 tilstand |
| TKTtransketolase | Meget ofte (80–99 %) | I 2 tilstande |
| TNFRSF11ATNF receptor superfamily member 11a | Meget ofte (80–99 %) | I 1 tilstand |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Meget ofte (80–99 %) | I 1 tilstand |
| ZIC3Zic family zinc finger 3 | Meget ofte (80–99 %) | I 1 tilstand |
| ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase | Ofte (30–79 %) | I 1 tilstand |
| ACVR2Bactivin A receptor type 2B | Ofte (30–79 %) | I 1 tilstand |
| AFF4ALF transcription elongation factor 4 | Ofte (30–79 %) | I 2 tilstande |
| AKT3AKT serine/threonine kinase 3 | Ofte (30–79 %) | I 1 tilstand |
| ALDH1A2aldehyde dehydrogenase 1 family member A2 | Ofte (30–79 %) | I 1 tilstand |
| ATP6V1AATPase H+ transporting V1 subunit A | Ofte (30–79 %) | I 1 tilstand |
| BCORBCL6 corepressor | Ofte (30–79 %) | I 1 tilstand |
| C2CD3C2 domain containing 3 centriole elongation regulator | Ofte (30–79 %) | I 2 tilstande |
| CACNA1Dcalcium voltage-gated channel subunit alpha1 D | Ofte (30–79 %) | I 2 tilstande |
| CANT1calcium activated nucleotidase 1 | Ofte (30–79 %) | I 1 tilstand |
| CCDC22CCC complex scaffolding subunit CCDC22 | Ofte (30–79 %) | I 2 tilstande |
| CCDC32coiled-coil domain containing 32 | Ofte (30–79 %) | I 1 tilstand |
| CCND2cyclin D2 | Ofte (30–79 %) | I 1 tilstand |
| CDK13cyclin dependent kinase 13 | Ofte (30–79 %) | I 1 tilstand |
| CEP57centrosomal protein 57 | Ofte (30–79 %) | I 1 tilstand |
| CHD4chromodomain helicase DNA binding protein 4 | Ofte (30–79 %) | I 1 tilstand |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Ofte (30–79 %) | I 2 tilstande |
| CTU2cytosolic thiouridylase subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| DAW1dynein assembly factor with WD repeats 1 | Ofte (30–79 %) | I 1 tilstand |
| DDX59DEAD-box helicase 59 | Ofte (30–79 %) | I 1 tilstand |
| DHCR77-dehydrocholesterol reductase | Ofte (30–79 %) | I 2 tilstande |
| DLG5discs large MAGUK scaffold protein 5 | Ofte (30–79 %) | I 1 tilstand |
| DOHHdeoxyhypusine hydroxylase | Ofte (30–79 %) | I 1 tilstand |
| DOT1LDOT1 like histone lysine methyltransferase | Ofte (30–79 %) | I 1 tilstand |
| DPH1diphthamide biosynthesis 1 | Ofte (30–79 %) | I 1 tilstand |
| DPYSL5dihydropyrimidinase like 5 | Ofte (30–79 %) | I 1 tilstand |
| DSTdystonin | Ofte (30–79 %) | I 1 tilstand |
| DVL3dishevelled segment polarity protein 3 | Ofte (30–79 %) | I 1 tilstand |
| DYNC2LI1dynein cytoplasmic 2 light intermediate chain 1 | Ofte (30–79 %) | I 1 tilstand |
| ECHS1enoyl-CoA hydratase, short chain 1 | Ofte (30–79 %) | I 1 tilstand |
| ELNelastin | Ofte (30–79 %) | I 3 tilstande |
| EVCEvC ciliary complex subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| EVC2EvC ciliary complex subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| EXOC2exocyst complex component 2 | Ofte (30–79 %) | I 1 tilstand |
| EXT2exostosin glycosyltransferase 2 | Ofte (30–79 %) | I 1 tilstand |
| FIG4FIG4 phosphoinositide 5-phosphatase | Ofte (30–79 %) | I 2 tilstande |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Ofte (30–79 %) | I 1 tilstand |
| FTOFTO alpha-ketoglutarate dependent dioxygenase | Ofte (30–79 %) | I 1 tilstand |
| GATA4GATA binding protein 4 | Ofte (30–79 %) | I 2 tilstande |
| GATA5GATA binding protein 5 | Ofte (30–79 %) | I 1 tilstand |
| GLI1GLI family zinc finger 1 | Ofte (30–79 %) | I 1 tilstand |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Ofte (30–79 %) | I 2 tilstande |
| IFT81intraflagellar transport 81 | Ofte (30–79 %) | I 1 tilstand |
| IGBP1immunoglobulin binding protein 1 | Ofte (30–79 %) | I 2 tilstande |
| IPO8importin 8 | Ofte (30–79 %) | I 1 tilstand |
| KAT5lysine acetyltransferase 5 | Ofte (30–79 %) | I 1 tilstand |
| KAT6Alysine acetyltransferase 6A | Ofte (30–79 %) | I 2 tilstande |
| KAT6Blysine acetyltransferase 6B | Ofte (30–79 %) | I 2 tilstande |
| MED23mediator complex subunit 23 | Ofte (30–79 %) | I 1 tilstand |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Ofte (30–79 %) | I 2 tilstande |
| MGPmatrix Gla protein | Ofte (30–79 %) | I 2 tilstande |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Ofte (30–79 %) | I 2 tilstande |
| MYRFmyelin regulatory factor | Ofte (30–79 %) | I 1 tilstand |
| NAA20N-alpha-acetyltransferase 20, NatB catalytic subunit | Ofte (30–79 %) | I 1 tilstand |
| NEK9NIMA related kinase 9 | Ofte (30–79 %) | I 2 tilstande |
| NODALnodal growth differentiation factor | Ofte (30–79 %) | I 1 tilstand |
| NR2F2nuclear receptor subfamily 2 group F member 2 | Ofte (30–79 %) | I 2 tilstande |
| NSD1nuclear receptor binding SET domain protein 1 | Ofte (30–79 %) | I 2 tilstande |
| OTUD5OTU deubiquitinase 5 | Ofte (30–79 %) | I 1 tilstand |
| OTUD6BOTU deubiquitinase 6B | Ofte (30–79 %) | I 2 tilstande |
| PIK3R2phosphoinositide-3-kinase regulatory subunit 2 | Ofte (30–79 %) | I 2 tilstande |
| PLCH1phospholipase C eta 1 | Ofte (30–79 %) | I 1 tilstand |
| PLD1phospholipase D1 | Ofte (30–79 %) | I 1 tilstand |
| PLXND1plexin D1 | Ofte (30–79 %) | I 1 tilstand |
| PRKACAprotein kinase cAMP-activated catalytic subunit alpha | Ofte (30–79 %) | I 1 tilstand |
| PRKACBprotein kinase cAMP-activated catalytic subunit beta | Ofte (30–79 %) | I 1 tilstand |
| PUF60poly(U) binding splicing factor 60 | Ofte (30–79 %) | I 3 tilstande |
| REREarginine-glutamic acid dipeptide repeats | Ofte (30–79 %) | I 2 tilstande |
| RIT1Ras like without CAAX 1 | Ofte (30–79 %) | I 1 tilstand |
| RPL10ribosomal protein L10 | Ofte (30–79 %) | I 2 tilstande |
| RPS26ribosomal protein S26 | Ofte (30–79 %) | I 2 tilstande |
| RRAGCRas related GTP binding C | Ofte (30–79 %) | I 1 tilstand |
| RRAS2RAS related 2 | Ofte (30–79 %) | I 1 tilstand |
| SCAF4SR-related CTD associated factor 4 | Ofte (30–79 %) | I 1 tilstand |
| SH3PXD2BSH3 and PX domains 2B | Ofte (30–79 %) | I 1 tilstand |
| SMAD2SMAD family member 2 | Ofte (30–79 %) | I 1 tilstand |
| SMG8SMG8 nonsense mediated mRNA decay factor | Ofte (30–79 %) | I 1 tilstand |
| STRA6signaling receptor and transporter of retinol STRA6 | Ofte (30–79 %) | I 1 tilstand |
| TASP1taspase 1 | Ofte (30–79 %) | I 1 tilstand |
| TBX5T-box transcription factor 5 | Ofte (30–79 %) | I 2 tilstande |
| TGDSTDP-glucose 4,6-dehydratase | Ofte (30–79 %) | I 2 tilstande |
| THOC6THO complex subunit 6 | Ofte (30–79 %) | I 1 tilstand |
| TMEM94transmembrane protein 94 | Ofte (30–79 %) | I 1 tilstand |
| TPRtranslocated promoter region, nuclear basket protein | Ofte (30–79 %) | I 1 tilstand |
| UBE2Aubiquitin conjugating enzyme E2 A | Ofte (30–79 %) | I 1 tilstand |
| UQCRFS1ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 | Ofte (30–79 %) | I 1 tilstand |
| VAC14VAC14 component of PIKFYVE complex | Ofte (30–79 %) | I 1 tilstand |
| VPS35LVPS35 endosomal protein sorting factor like | Ofte (30–79 %) | I 1 tilstand |
| WASHC5WASH complex subunit 5 | Ofte (30–79 %) | I 2 tilstande |
| WDR37WD repeat domain 37 | Ofte (30–79 %) | I 1 tilstand |
| WNT4Wnt family member 4 | Ofte (30–79 %) | I 2 tilstande |
| XYLT1xylosyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| XYLT2xylosyltransferase 2 | Ofte (30–79 %) | I 1 tilstand |
| AARS1alanyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ACADVLacyl-CoA dehydrogenase very long chain | Nogle gange (5–29 %) | I 1 tilstand |
| ADA2adenosine deaminase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ADAMTS10ADAM metallopeptidase with thrombospondin type 1 motif 10 | Nogle gange (5–29 %) | I 2 tilstande |
| ADAMTS17ADAM metallopeptidase with thrombospondin type 1 motif 17 | Nogle gange (5–29 %) | I 1 tilstand |
| AHDC1AT-hook DNA binding motif containing 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| ALKBH8alkB homolog 8, tRNA methyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| ANKRD11ankyrin repeat domain 11 | Nogle gange (5–29 %) | I 1 tilstand |
| APC2APC regulator of Wnt signaling pathway 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ARCN1archain 1 coat protein complex I subunit delta | Nogle gange (5–29 %) | I 1 tilstand |
| ARID1AAT-rich interaction domain 1A | Nogle gange (5–29 %) | I 1 tilstand |
| ARID1BAT-rich interaction domain 1B | Nogle gange (5–29 %) | I 2 tilstande |
| ARID2AT-rich interaction domain 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ARXaristaless related homeobox | Nogle gange (5–29 %) | I 2 tilstande |
| ATN1atrophin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| AXIN1axin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| BAP1BRCA1 associated deubiquitinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Nogle gange (5–29 %) | I 1 tilstand |
| BCRBCR activator of RhoGEF and GTPase | Nogle gange (5–29 %) | I 1 tilstand |
| BRD4bromodomain containing 4 | Nogle gange (5–29 %) | I 2 tilstande |
| BRF1BRF1 general transcription factor IIIB subunit | Nogle gange (5–29 %) | I 2 tilstande |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Nogle gange (5–29 %) | I 1 tilstand |
| CACHD1cache domain containing 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Nogle gange (5–29 %) | I 1 tilstand |
| CAMK2Acalcium/calmodulin dependent protein kinase II alpha | Nogle gange (5–29 %) | I 1 tilstand |
| CARS1cysteinyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CCBE1collagen and calcium binding EGF domains 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CCDC47coiled-coil domain containing 47 | Nogle gange (5–29 %) | I 1 tilstand |
| CDC45cell division cycle 45 | Nogle gange (5–29 %) | I 1 tilstand |
| CDK8cyclin dependent kinase 8 | Nogle gange (5–29 %) | I 1 tilstand |
| CHMP1Acharged multivesicular body protein 1A | Nogle gange (5–29 %) | I 1 tilstand |
| CHRM3cholinergic receptor muscarinic 3 | Nogle gange (5–29 %) | I 1 tilstand |
| CIROPciliated left-right organizer metallopeptidase | Nogle gange (5–29 %) | I 1 tilstand |
| CIROZciliated left-right organizer protein containing ZP-N domains | Nogle gange (5–29 %) | I 1 tilstand |
| CKAP2Lcytoskeleton associated protein 2L | Nogle gange (5–29 %) | I 2 tilstande |
| CLIP2CAP-Gly domain containing linker protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| COG6component of oligomeric golgi complex 6 | Nogle gange (5–29 %) | I 1 tilstand |
| CRB2crumbs cell polarity complex component 2 | Nogle gange (5–29 %) | I 1 tilstand |
| CREBBPCREB binding lysine acetyltransferase | Nogle gange (5–29 %) | I 3 tilstande |
| CRKLCRK like proto-oncogene, adaptor protein | Nogle gange (5–29 %) | I 1 tilstand |
| CUX1cut like homeobox 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CWC27CWC27 spliceosome associated cyclophilin | Nogle gange (5–29 %) | I 2 tilstande |
| DBR1debranching RNA lariats 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DLK1delta like non-canonical Notch ligand 1 | Nogle gange (5–29 %) | I 2 tilstande |
| DLL4delta like canonical Notch ligand 4 | Nogle gange (5–29 %) | I 1 tilstand |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Nogle gange (5–29 %) | I 1 tilstand |
| DPF2double PHD fingers 2 | Nogle gange (5–29 %) | I 2 tilstande |
| DVL1dishevelled segment polarity protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| EFTUD2elongation factor Tu GTP binding domain containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| EHMT1euchromatic histone lysine methyltransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| EIF4Heukaryotic translation initiation factor 4H | Nogle gange (5–29 %) | I 1 tilstand |
| EOGTEGF domain specific O-linked N-acetylglucosamine transferase | Nogle gange (5–29 %) | I 1 tilstand |
| EP300EP300 lysine acetyltransferase | Nogle gange (5–29 %) | I 2 tilstande |
| ERBB3erb-b2 receptor tyrosine kinase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Nogle gange (5–29 %) | I 1 tilstand |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Nogle gange (5–29 %) | I 1 tilstand |
| FADDFas associated via death domain | Nogle gange (5–29 %) | I 2 tilstande |
| FANCBFA complementation group B | Nogle gange (5–29 %) | I 1 tilstand |
| FBN1fibrillin 1 | Nogle gange (5–29 %) | I 2 tilstande |
| FBXO22F-box protein 22 | Nogle gange (5–29 %) | I 1 tilstand |
| FEM1Bfem-1 homolog B | Nogle gange (5–29 %) | I 1 tilstand |
| FILIP1filamin A interacting protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Nogle gange (5–29 %) | I 1 tilstand |
| FOCADfocadhesin | Nogle gange (5–29 %) | I 1 tilstand |
| FOXC2forkhead box C2 | Nogle gange (5–29 %) | I 1 tilstand |
| FOXF1forkhead box F1 | Nogle gange (5–29 %) | I 2 tilstande |
| FRA10AC1FRA10A associated CGG repeat 1 | Nogle gange (5–29 %) | I 1 tilstand |
| FRYLFRY like transcription coactivator | Nogle gange (5–29 %) | I 1 tilstand |
| GATA1GATA binding protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GDF3growth differentiation factor 3 | Nogle gange (5–29 %) | I 1 tilstand |
| GDF6growth differentiation factor 6 | Nogle gange (5–29 %) | I 1 tilstand |
| GJA1gap junction protein alpha 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GLI3GLI family zinc finger 3 | Nogle gange (5–29 %) | I 2 tilstande |
| GNB2G protein subunit beta 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GTF2E2general transcription factor IIE subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GTF2H5general transcription factor IIH subunit 5 | Nogle gange (5–29 %) | I 1 tilstand |
| GTF2Igeneral transcription factor IIi | Nogle gange (5–29 %) | I 1 tilstand |
| GTF2IRD1GTF2I repeat domain containing 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GTF2IRD2GTF2I repeat domain containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| HDAC8histone deacetylase 8 | Nogle gange (5–29 %) | I 1 tilstand |
| HEATR3HEAT repeat containing 3 | Nogle gange (5–29 %) | I 1 tilstand |
| HNRNPRheterogeneous nuclear ribonucleoprotein R | Nogle gange (5–29 %) | I 1 tilstand |
| HOXA13homeobox A13 | Nogle gange (5–29 %) | I 1 tilstand |
| IFT172intraflagellar transport 172 | Nogle gange (5–29 %) | I 1 tilstand |
| IFT27intraflagellar transport 27 | Nogle gange (5–29 %) | I 1 tilstand |
| IFT56intraflagellar transport 56 | Nogle gange (5–29 %) | I 1 tilstand |
| INSRinsulin receptor | Nogle gange (5–29 %) | I 1 tilstand |
| JAG1jagged canonical Notch ligand 1 | Nogle gange (5–29 %) | I 2 tilstande |
| JAM3junctional adhesion molecule 3 | Nogle gange (5–29 %) | I 1 tilstand |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| KAT8lysine acetyltransferase 8 | Nogle gange (5–29 %) | I 1 tilstand |
| KDM2Blysine demethylase 2B | Nogle gange (5–29 %) | I 1 tilstand |
| KDM3Blysine demethylase 3B | Nogle gange (5–29 %) | I 1 tilstand |
| KDM5Alysine demethylase 5A | Nogle gange (5–29 %) | I 1 tilstand |
| KDM6Alysine demethylase 6A | Nogle gange (5–29 %) | I 1 tilstand |
| KIFBPkinesin family binding protein | Nogle gange (5–29 %) | I 1 tilstand |
| KLHL41kelch like family member 41 | Nogle gange (5–29 %) | I 1 tilstand |
| KMT2Dlysine methyltransferase 2D | Nogle gange (5–29 %) | I 1 tilstand |
| KRASKRas proto-oncogene, GTPase | Nogle gange (5–29 %) | I 1 tilstand |
| LBRlamin B receptor | Nogle gange (5–29 %) | I 1 tilstand |
| LIMK1LIM domain kinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| LONP1lon peptidase 1, mitochondrial | Nogle gange (5–29 %) | I 3 tilstande |
| LRP2LDL receptor related protein 2 | Nogle gange (5–29 %) | I 2 tilstande |
| LTBP2latent transforming growth factor beta binding protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| LZTR1leucine zipper like post translational regulator 1 | Nogle gange (5–29 %) | I 2 tilstande |
| MACF1microtubule actin crosslinking factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Nogle gange (5–29 %) | I 1 tilstand |
| MAPK1mitogen-activated protein kinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MAU2MAU2 sister chromatid cohesion factor | Nogle gange (5–29 %) | I 1 tilstand |
| MED12mediator complex subunit 12 | Nogle gange (5–29 %) | I 3 tilstande |
| MED13Lmediator complex subunit 13L | Nogle gange (5–29 %) | I 1 tilstand |
| MED16mediator complex subunit 16 | Nogle gange (5–29 %) | I 1 tilstand |
| MED25mediator complex subunit 25 | Nogle gange (5–29 %) | I 2 tilstande |
| MEG3maternally expressed 3 | Nogle gange (5–29 %) | I 2 tilstande |
| MEIS2Meis homeobox 2 | Nogle gange (5–29 %) | I 2 tilstande |
| MEOX1mesenchyme homeobox 1 | Nogle gange (5–29 %) | I 2 tilstande |
| METTL27methyltransferase like 27 | Nogle gange (5–29 %) | I 1 tilstand |
| MICU1mitochondrial calcium uptake 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MID1midline 1 | Nogle gange (5–29 %) | I 2 tilstande |
| MIR17HGmiR-17-92a-1 cluster host gene | Nogle gange (5–29 %) | I 1 tilstand |
| MKKSMKKS centrosomal shuttling protein | Nogle gange (5–29 %) | I 1 tilstand |
| MLXIPLMLX interacting protein like | Nogle gange (5–29 %) | I 1 tilstand |
| MMP14matrix metallopeptidase 14 | Nogle gange (5–29 %) | I 1 tilstand |
| MMP2matrix metallopeptidase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MPLKIPM-phase specific PLK1 interacting protein | Nogle gange (5–29 %) | I 2 tilstande |
| MTFMTmitochondrial methionyl-tRNA formyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| MYH3myosin heavy chain 3 | Nogle gange (5–29 %) | I 1 tilstand |
| MYOCDmyocardin | Nogle gange (5–29 %) | I 1 tilstand |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Nogle gange (5–29 %) | I 2 tilstande |
| NAE1NEDD8 activating enzyme E1 subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NAV3neuron navigator 3 | Nogle gange (5–29 %) | I 1 tilstand |
| NCF1neutrophil cytosolic factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Nogle gange (5–29 %) | I 1 tilstand |
| NEK1NIMA related kinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NFIXnuclear factor I X | Nogle gange (5–29 %) | I 2 tilstande |
| NIPBLNIPBL cohesin loading factor | Nogle gange (5–29 %) | I 2 tilstande |
| NKAPNFKB activating protein | Nogle gange (5–29 %) | I 1 tilstand |
| NKX2-1NK2 homeobox 1 | Nogle gange (5–29 %) | I 2 tilstande |
| NONOnon-POU domain containing octamer binding | Nogle gange (5–29 %) | I 2 tilstande |
| NOTCH1notch receptor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NOTCH2notch receptor 2 | Nogle gange (5–29 %) | I 2 tilstande |
| NXNnucleoredoxin | Nogle gange (5–29 %) | I 1 tilstand |
| ODAD1outer dynein arm docking complex subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ODAD3outer dynein arm docking complex subunit 3 | Nogle gange (5–29 %) | I 1 tilstand |
| PACS1phosphofurin acidic cluster sorting protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PACS2phosphofurin acidic cluster sorting protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PAHphenylalanine hydroxylase | Nogle gange (5–29 %) | I 1 tilstand |
| PALB2partner and localizer of BRCA2 | Nogle gange (5–29 %) | I 1 tilstand |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PEX1peroxisomal biogenesis factor 1 | Nogle gange (5–29 %) | I 2 tilstande |
| PEX10peroxisomal biogenesis factor 10 | Nogle gange (5–29 %) | I 1 tilstand |
| PEX11Bperoxisomal biogenesis factor 11 beta | Nogle gange (5–29 %) | I 1 tilstand |
| PEX12peroxisomal biogenesis factor 12 | Nogle gange (5–29 %) | I 1 tilstand |
| PEX13peroxisomal biogenesis factor 13 | Nogle gange (5–29 %) | I 1 tilstand |
| PEX14peroxisomal biogenesis factor 14 | Nogle gange (5–29 %) | I 1 tilstand |
| PEX16peroxisomal biogenesis factor 16 | Nogle gange (5–29 %) | I 2 tilstande |
| PEX19peroxisomal biogenesis factor 19 | Nogle gange (5–29 %) | I 1 tilstand |
| PEX2peroxisomal biogenesis factor 2 | Nogle gange (5–29 %) | I 2 tilstande |
| PEX26peroxisomal biogenesis factor 26 | Nogle gange (5–29 %) | I 1 tilstand |
| PEX3peroxisomal biogenesis factor 3 | Nogle gange (5–29 %) | I 1 tilstand |
| PEX5peroxisomal biogenesis factor 5 | Nogle gange (5–29 %) | I 1 tilstand |
| PEX6peroxisomal biogenesis factor 6 | Nogle gange (5–29 %) | I 1 tilstand |
| PGM1phosphoglucomutase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Nogle gange (5–29 %) | I 2 tilstande |
| POLA1DNA polymerase alpha 1, catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| POLR1ARNA polymerase I subunit A | Nogle gange (5–29 %) | I 1 tilstand |
| PPFIBP1PPFIB scaffold protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PPM1Dprotein phosphatase, Mg2+/Mn2+ dependent 1D | Nogle gange (5–29 %) | I 1 tilstand |
| PPP1R13Lprotein phosphatase 1 regulatory subunit 13 like | Nogle gange (5–29 %) | I 1 tilstand |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Nogle gange (5–29 %) | I 1 tilstand |
| PRDM13PR/SET domain 13 | Nogle gange (5–29 %) | I 1 tilstand |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Nogle gange (5–29 %) | I 1 tilstand |
| RAB34RAB34, member RAS oncogene family | Nogle gange (5–29 %) | I 1 tilstand |
| RAC1Rac family small GTPase 1 | Nogle gange (5–29 %) | I 2 tilstande |
| RAD21RAD21 cohesin complex component | Nogle gange (5–29 %) | I 1 tilstand |
| RAI1retinoic acid induced 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RAP1BRAP1B, member of RAS oncogene family | Nogle gange (5–29 %) | I 1 tilstand |
| RBM8ARNA binding motif protein 8A | Nogle gange (5–29 %) | I 1 tilstand |
| RBMXRNA binding motif protein X-linked | Nogle gange (5–29 %) | I 1 tilstand |
| RFC2replication factor C subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| RFX7regulatory factor X7 | Nogle gange (5–29 %) | I 1 tilstand |
| RNF113Aring finger protein 113A | Nogle gange (5–29 %) | I 1 tilstand |
| RNU4-2RNA, U4 small nuclear 2 | Nogle gange (5–29 %) | I 1 tilstand |
| RNU4ATACRNA, U4atac small nuclear | Nogle gange (5–29 %) | I 2 tilstande |
| ROR2ROR family WNT receptor 2 | Nogle gange (5–29 %) | I 2 tilstande |
| RPL11ribosomal protein L11 | Nogle gange (5–29 %) | I 2 tilstande |
| RPL18ribosomal protein L18 | Nogle gange (5–29 %) | I 1 tilstand |
| RPL26ribosomal protein L26 | Nogle gange (5–29 %) | I 1 tilstand |
| RPL27ribosomal protein L27 | Nogle gange (5–29 %) | I 1 tilstand |
| RPL31ribosomal protein L31 | Nogle gange (5–29 %) | I 1 tilstand |
| RPL35ribosomal protein L35 | Nogle gange (5–29 %) | I 1 tilstand |
| RPL35Aribosomal protein L35a | Nogle gange (5–29 %) | I 2 tilstande |
| RPL5ribosomal protein L5 | Nogle gange (5–29 %) | I 2 tilstande |
| RPL8ribosomal protein L8 | Nogle gange (5–29 %) | I 1 tilstand |
| RPL9ribosomal protein L9 | Nogle gange (5–29 %) | I 1 tilstand |
| RPS10ribosomal protein S10 | Nogle gange (5–29 %) | I 1 tilstand |
| RPS15Aribosomal protein S15a | Nogle gange (5–29 %) | I 1 tilstand |
| RPS17ribosomal protein S17 | Nogle gange (5–29 %) | I 1 tilstand |
| RPS19ribosomal protein S19 | Nogle gange (5–29 %) | I 2 tilstande |
| RPS20ribosomal protein S20 | Nogle gange (5–29 %) | I 1 tilstand |
| RPS24ribosomal protein S24 | Nogle gange (5–29 %) | I 1 tilstand |
| RPS27ribosomal protein S27 | Nogle gange (5–29 %) | I 1 tilstand |
| RPS28ribosomal protein S28 | Nogle gange (5–29 %) | I 1 tilstand |
| RPS29ribosomal protein S29 | Nogle gange (5–29 %) | I 1 tilstand |
| RPS7ribosomal protein S7 | Nogle gange (5–29 %) | I 1 tilstand |
| RTL1retrotransposon Gag like 1 | Nogle gange (5–29 %) | I 2 tilstande |
| SALL1spalt like transcription factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SATB1SATB homeobox 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SATB2SATB homeobox 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Nogle gange (5–29 %) | I 1 tilstand |
| SF3B2splicing factor 3b subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SF3B4splicing factor 3b subunit 4 | Nogle gange (5–29 %) | I 1 tilstand |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Nogle gange (5–29 %) | I 1 tilstand |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Nogle gange (5–29 %) | I 1 tilstand |
| SKIC3SKI3 subunit of superkiller complex | Nogle gange (5–29 %) | I 2 tilstande |
| SLC12A2solute carrier family 12 member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC19A2solute carrier family 19 member 2 | Nogle gange (5–29 %) | I 2 tilstande |
| SLC37A4solute carrier family 37 member 4 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC6A1solute carrier family 6 member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC6A11solute carrier family 6 member 11 | Nogle gange (5–29 %) | I 1 tilstand |
| SLF2SMC5/6 complex localization factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SMAD4SMAD family member 4 | Nogle gange (5–29 %) | I 1 tilstand |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Nogle gange (5–29 %) | I 2 tilstande |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Nogle gange (5–29 %) | I 1 tilstand |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Nogle gange (5–29 %) | I 1 tilstand |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Nogle gange (5–29 %) | I 1 tilstand |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Nogle gange (5–29 %) | I 1 tilstand |
| SMC1Astructural maintenance of chromosomes 1A | Nogle gange (5–29 %) | I 2 tilstande |
| SMC3structural maintenance of chromosomes 3 | Nogle gange (5–29 %) | I 2 tilstande |
| SNRPBsmall nuclear ribonucleoprotein polypeptides B and B1 | Nogle gange (5–29 %) | I 2 tilstande |
| SONSON DNA and RNA binding protein | Nogle gange (5–29 %) | I 1 tilstand |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SOX11SRY-box transcription factor 11 | Nogle gange (5–29 %) | I 1 tilstand |
| SOX17SRY-box transcription factor 17 | Nogle gange (5–29 %) | I 1 tilstand |
| SOX2SRY-box transcription factor 2 | Nogle gange (5–29 %) | I 2 tilstande |
| SOX4SRY-box transcription factor 4 | Nogle gange (5–29 %) | I 2 tilstande |
| SPENspen family transcriptional repressor | Nogle gange (5–29 %) | I 1 tilstand |
| STAG1STAG1 cohesin complex component | Nogle gange (5–29 %) | I 1 tilstand |
| STAG2STAG2 cohesin complex component | Nogle gange (5–29 %) | I 1 tilstand |
| STX1Asyntaxin 1A | Nogle gange (5–29 %) | I 1 tilstand |
| TAOK1TAO kinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TARS1threonyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TBC1D24TBC1 domain family member 24 | Nogle gange (5–29 %) | I 1 tilstand |
| TBCKTBC1 domain containing kinase | Nogle gange (5–29 %) | I 1 tilstand |
| TBL2transducin beta like 2 | Nogle gange (5–29 %) | I 1 tilstand |
| TBX3T-box transcription factor 3 | Nogle gange (5–29 %) | I 2 tilstande |
| TCTN3tectonic family member 3 | Nogle gange (5–29 %) | I 1 tilstand |
| TET3tet methylcytosine dioxygenase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| TFAP2Btranscription factor AP-2 beta | Nogle gange (5–29 %) | I 1 tilstand |
| TIAM1TIAM Rac1 associated GEF 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM237transmembrane protein 237 | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM270transmembrane protein 270 | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM53transmembrane protein 53 | Nogle gange (5–29 %) | I 1 tilstand |
| TRAF7TNF receptor associated factor 7 | Nogle gange (5–29 %) | I 1 tilstand |
| TRIOtrio Rho guanine nucleotide exchange factor | Nogle gange (5–29 %) | I 1 tilstand |
| TRRAPtransformation/transcription domain associated protein | Nogle gange (5–29 %) | I 1 tilstand |
| TSHZ3teashirt zinc finger homeobox 3 | Nogle gange (5–29 %) | I 1 tilstand |
| TSR2TSR2 ribosome maturation factor | Nogle gange (5–29 %) | I 1 tilstand |
| TTC7Atetratricopeptide repeat domain 7A | Nogle gange (5–29 %) | I 2 tilstande |
| UBR7ubiquitin protein ligase E3 component n-recognin 7 | Nogle gange (5–29 %) | I 1 tilstand |
| UMPSuridine monophosphate synthetase | Nogle gange (5–29 %) | I 1 tilstand |
| VPS13Bvacuolar protein sorting 13 homolog B | Nogle gange (5–29 %) | I 1 tilstand |
| VPS37DVPS37D subunit of ESCRT-I | Nogle gange (5–29 %) | I 1 tilstand |
| WACWW domain containing adaptor with coiled-coil | Nogle gange (5–29 %) | I 1 tilstand |
| WBP4WW domain binding protein 4 | Nogle gange (5–29 %) | I 1 tilstand |
| WDR26WD repeat domain 26 | Nogle gange (5–29 %) | I 2 tilstande |
| WSB2WD repeat and SOCS box containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| WT1WT1 transcription factor | Nogle gange (5–29 %) | I 2 tilstande |
| YARS1tyrosyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| YY1AP1YY1 associated protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ZBTB7Azinc finger and BTB domain containing 7A | Nogle gange (5–29 %) | I 1 tilstand |
| ZFXzinc finger protein X-linked | Nogle gange (5–29 %) | I 1 tilstand |
| ZMYM2zinc finger MYM-type containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ZNF462zinc finger protein 462 | Nogle gange (5–29 %) | I 1 tilstand |
| ZNF699zinc finger protein 699 | Nogle gange (5–29 %) | I 1 tilstand |
| ZRSR2zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Sjældent (1–4%) | I 1 tilstand |
| ARSLarylsulfatase L | Sjældent (1–4%) | I 1 tilstand |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Sjældent (1–4%) | I 1 tilstand |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Sjældent (1–4%) | I 1 tilstand |
| CASKcalcium/calmodulin dependent serine protein kinase | Sjældent (1–4%) | I 1 tilstand |
| CDKL5cyclin dependent kinase like 5 | Sjældent (1–4%) | I 1 tilstand |
| DMXL2Dmx like 2 | Sjældent (1–4%) | I 1 tilstand |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Sjældent (1–4%) | I 2 tilstande |
| GGCXgamma-glutamyl carboxylase | Sjældent (1–4%) | I 1 tilstand |
| GNAO1G protein subunit alpha o1 | Sjældent (1–4%) | I 1 tilstand |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Sjældent (1–4%) | I 1 tilstand |
| GRM7glutamate metabotropic receptor 7 | Sjældent (1–4%) | I 1 tilstand |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Sjældent (1–4%) | I 1 tilstand |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Sjældent (1–4%) | I 1 tilstand |
| KDM6Blysine demethylase 6B | Sjældent (1–4%) | I 1 tilstand |
| LGI1leucine rich glioma inactivated 1 | Sjældent (1–4%) | I 1 tilstand |
| MAP2K1mitogen-activated protein kinase kinase 1 | Sjældent (1–4%) | I 2 tilstande |
| MT-CYBmitochondrially encoded cytochrome b | Sjældent (1–4%) | I 1 tilstand |
| NEUROD2neuronal differentiation 2 | Sjældent (1–4%) | I 1 tilstand |
| NF1neurofibromin 1 | Sjældent (1–4%) | I 2 tilstande |
| NIPA1NIPA magnesium transporter 1 | Sjældent (1–4%) | I 1 tilstand |
| NIPA2NIPA magnesium transporter 2 | Sjældent (1–4%) | I 1 tilstand |
| NUP107nucleoporin 107 | Sjældent (1–4%) | I 2 tilstande |
| PI4KAphosphatidylinositol 4-kinase alpha | Sjældent (1–4%) | I 1 tilstand |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Sjældent (1–4%) | I 1 tilstand |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Sjældent (1–4%) | I 1 tilstand |
| PNKPpolynucleotide kinase 3'-phosphatase | Sjældent (1–4%) | I 1 tilstand |
| PORCNporcupine O-acyltransferase | Sjældent (1–4%) | I 1 tilstand |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Sjældent (1–4%) | I 1 tilstand |
| RHOBTB2Rho related BTB domain containing 2 | Sjældent (1–4%) | I 1 tilstand |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Sjældent (1–4%) | I 1 tilstand |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Sjældent (1–4%) | I 1 tilstand |
| SIK1salt inducible kinase 1 | Sjældent (1–4%) | I 1 tilstand |
| SKIC2SKI2 subunit of superkiller complex | Sjældent (1–4%) | I 1 tilstand |
| SLC25A22solute carrier family 25 member 22 | Sjældent (1–4%) | I 1 tilstand |
| SLC32A1solute carrier family 32 member 1 | Sjældent (1–4%) | I 1 tilstand |
| SPTBN1spectrin beta, non-erythrocytic 1 | Sjældent (1–4%) | I 1 tilstand |
| TGFB3transforming growth factor beta 3 | Sjældent (1–4%) | I 1 tilstand |
| TRIM8tripartite motif containing 8 | Sjældent (1–4%) | I 1 tilstand |
| TUBG1tubulin gamma 1 | Sjældent (1–4%) | I 1 tilstand |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Sjældent (1–4%) | I 1 tilstand |
| VKORC1vitamin K epoxide reductase complex subunit 1 | Sjældent (1–4%) | I 1 tilstand |
| VPS33BVPS33B late endosome and lysosome associated | Sjældent (1–4%) | I 1 tilstand |
| ZEB2zinc finger E-box binding homeobox 2 | Sjældent (1–4%) | I 2 tilstande |
| AMER1APC membrane recruitment protein 1 | Ikke registreret | I 1 tilstand |
| ARHGAP31Rho GTPase activating protein 31 | Ikke registreret | I 1 tilstand |
| ASXL1ASXL transcriptional regulator 1 | Ikke registreret | I 1 tilstand |
| ATRXATRX chromatin remodeler | Ikke registreret | I 1 tilstand |
| B3GALT6beta-1,3-galactosyltransferase 6 | Ikke registreret | I 1 tilstand |
| B3GLCTbeta 3-glucosyltransferase | Ikke registreret | I 1 tilstand |
| CCDC174coiled-coil domain containing 174 | Ikke registreret | I 1 tilstand |
| CD96CD96 molecule | Ikke registreret | I 1 tilstand |
| CEP290centrosomal protein 290 | Ikke registreret | I 1 tilstand |
| CHST3carbohydrate sulfotransferase 3 | Ikke registreret | I 1 tilstand |
| COX7Bcytochrome c oxidase subunit 7B | Ikke registreret | I 1 tilstand |
| CPLX1complexin 1 | Ikke registreret | I 1 tilstand |
| CTBP1C-terminal binding protein 1 | Ikke registreret | I 1 tilstand |
| DGCR2DiGeorge syndrome critical region gene 2 | Ikke registreret | I 1 tilstand |
| DGCR6DiGeorge syndrome critical region gene 6 | Ikke registreret | I 1 tilstand |
| DGCR8DGCR8 microprocessor complex subunit | Ikke registreret | I 1 tilstand |
| DYNC2I1dynein 2 intermediate chain 1 | Ikke registreret | I 1 tilstand |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Ikke registreret | I 1 tilstand |
| ESS2ess-2 spliceosome associated protein | Ikke registreret | I 1 tilstand |
| FBN2fibrillin 2 | Ikke registreret | I 1 tilstand |
| FGFR1fibroblast growth factor receptor 1 | Ikke registreret | I 1 tilstand |
| FGFR2fibroblast growth factor receptor 2 | Ikke registreret | I 1 tilstand |
| FGFRL1fibroblast growth factor receptor like 1 | Ikke registreret | I 1 tilstand |
| FLNBfilamin B | Ikke registreret | I 1 tilstand |
| GDF1growth differentiation factor 1 | Ikke registreret | I 2 tilstande |
| GPC6glypican 6 | Ikke registreret | I 1 tilstand |
| HCCSholocytochrome c synthase | Ikke registreret | I 1 tilstand |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Ikke registreret | I 1 tilstand |
| IGF1Rinsulin like growth factor 1 receptor | Ikke registreret | I 1 tilstand |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Ikke registreret | I 1 tilstand |
| LRP5LDL receptor related protein 5 | Ikke registreret | I 1 tilstand |
| MASP1MBL associated serine protease 1 | Ikke registreret | I 1 tilstand |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Ikke registreret | I 1 tilstand |
| NSD2nuclear receptor binding SET domain protein 2 | Ikke registreret | I 1 tilstand |
| PHGDHphosphoglycerate dehydrogenase | Ikke registreret | I 1 tilstand |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Ikke registreret | I 1 tilstand |
| PQBP1polyglutamine binding protein 1 | Ikke registreret | I 1 tilstand |
| RAB23RAB23, member RAS oncogene family | Ikke registreret | I 1 tilstand |
| RARBretinoic acid receptor beta | Ikke registreret | I 1 tilstand |
| RSPO2R-spondin 2 | Ikke registreret | I 1 tilstand |
| SALL4spalt like transcription factor 4 | Ikke registreret | I 1 tilstand |
| SIX6SIX homeobox 6 | Ikke registreret | I 1 tilstand |
| SMN1survival of motor neuron 1, telomeric | Ikke registreret | I 1 tilstand |
| STAMBPSTAM binding protein | Ikke registreret | I 1 tilstand |
| TAB2TGF-beta activated kinase 1 (MAP3K7) binding protein 2 | Ikke registreret | I 1 tilstand |
| TALDO1transaldolase 1 | Ikke registreret | I 1 tilstand |
| TAPT1transmembrane anterior posterior transformation 1 | Ikke registreret | I 1 tilstand |
| TP63tumor protein p63 | Ikke registreret | I 1 tilstand |
| TRAIPTRAF interacting protein | Ikke registreret | I 1 tilstand |
| TXNL4Athioredoxin like 4A | Ikke registreret | I 1 tilstand |
| UBE3Bubiquitin protein ligase E3B | Ikke registreret | I 1 tilstand |
| UBR1ubiquitin protein ligase E3 component n-recognin 1 | Ikke registreret | I 1 tilstand |
| VIPAS39VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
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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