Egenskap
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.
Sammendrag
- Også kalt
- Ventricular septal defects, Ventriculoseptal defect, VSD
- Kroppssystem
- Abnormality of the cardiovascular system
ReferansegenomGRCh38hg38
Posisjoner på gen- og variantsidene følger dette valget i denne nettleseren.
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Endringer i disse genene forårsaker sjeldne tilstander der Hole in heart wall separating two lower heart chambers 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 |
|---|---|---|
| AMOTL1angiomotin like 1 | Alltid | I 1 tilstand |
| CHD7chromodomain helicase DNA binding protein 7 | Alltid | I 1 tilstand |
| COQ4coenzyme Q4 | Alltid | I 1 tilstand |
| CTCFCCCTC-binding factor | Alltid | I 1 tilstand |
| DDX11DEAD/H-box helicase 11 | Alltid | I 1 tilstand |
| DNMT3ADNA methyltransferase 3 alpha | Alltid | I 1 tilstand |
| ECE1endothelin converting enzyme 1 | Alltid | I 1 tilstand |
| ERI1exoribonuclease 1 | Alltid | I 1 tilstand |
| FAAP100FA core complex associated protein 100 | Alltid | I 1 tilstand |
| FANCCFA complementation group C | Alltid | I 1 tilstand |
| FANCIFA complementation group I | Alltid | I 1 tilstand |
| FIBPFGF1 intracellular binding protein | Alltid | I 2 tilstander |
| FLNAfilamin A | Alltid | I 1 tilstand |
| GPC3glypican 3 | Alltid | I 2 tilstander |
| LARS2leucyl-tRNA synthetase 2, mitochondrial | Alltid | I 1 tilstand |
| NKX2-5NK2 homeobox 5 | Alltid | I 3 tilstander |
| NOTCH3notch receptor 3 | Alltid | I 3 tilstander |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Alltid | I 1 tilstand |
| PKD1L1polycystin 1 like 1, transient receptor potential channel interacting | Alltid | I 1 tilstand |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Alltid | I 1 tilstand |
| RFC4replication factor C subunit 4 | Alltid | I 1 tilstand |
| RNU2-2RNA, U2 small nuclear 2 | Alltid | I 1 tilstand |
| RNU5B-1RNA, U5B small nuclear 1 | Alltid | I 1 tilstand |
| RPL15ribosomal protein L15 | Alltid | I 2 tilstander |
| RYR1ryanodine receptor 1 | Alltid | I 1 tilstand |
| SMG9SMG9 nonsense mediated mRNA decay factor | Alltid | I 2 tilstander |
| SNAPINSNAP associated protein | Alltid | I 1 tilstand |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Alltid | I 2 tilstander |
| SRSF1serine and arginine rich splicing factor 1 | Alltid | I 1 tilstand |
| TBC1D32TBC1 domain family member 32 | Alltid | I 1 tilstand |
| TM2D3TM2 domain containing 3 | Alltid | I 1 tilstand |
| TMEM260transmembrane protein 260 | Alltid | I 1 tilstand |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Alltid | I 1 tilstand |
| ARVCFARVCF delta catenin family member | Svært ofte (80–99 %) | I 1 tilstand |
| COMTcatechol-O-methyltransferase | Svært ofte (80–99 %) | I 1 tilstand |
| DTNAdystrobrevin alpha | Svært ofte (80–99 %) | I 1 tilstand |
| GATA6GATA binding protein 6 | Svært ofte (80–99 %) | I 2 tilstander |
| GP1BBglycoprotein Ib platelet subunit beta | Svært ofte (80–99 %) | I 1 tilstand |
| GPC4glypican 4 | Svært ofte (80–99 %) | I 1 tilstand |
| HIRAhistone cell cycle regulator | Svært ofte (80–99 %) | I 1 tilstand |
Vis 483 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| HRASHRas proto-oncogene, GTPase | Svært ofte (80–99 %) | I 2 tilstander |
| HYMAIhydatidiform mole associated and imprinted | Svært ofte (80–99 %) | I 1 tilstand |
| JMJD1Cjumonji domain containing 1C | Svært ofte (80–99 %) | I 1 tilstand |
| PLAGL1PLAG1 like zinc finger 1 | Svært ofte (80–99 %) | I 1 tilstand |
| PPP2R3Cprotein phosphatase 2 regulatory subunit B''gamma | Svært ofte (80–99 %) | I 1 tilstand |
| RREB1ras responsive element binding protein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| SEC24CSEC24 homolog C, COPII component | Svært ofte (80–99 %) | I 1 tilstand |
| SLC29A3solute carrier family 29 member 3 | Svært ofte (80–99 %) | I 2 tilstander |
| TBX1T-box transcription factor 1 | Svært ofte (80–99 %) | I 4 tilstander |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Svært ofte (80–99 %) | I 1 tilstand |
| TKTtransketolase | Svært ofte (80–99 %) | I 2 tilstander |
| TNFRSF11ATNF receptor superfamily member 11a | Svært ofte (80–99 %) | I 1 tilstand |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Svært ofte (80–99 %) | I 1 tilstand |
| ZIC3Zic family zinc finger 3 | Svært 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 tilstander |
| 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 tilstander |
| CACNA1Dcalcium voltage-gated channel subunit alpha1 D | Ofte (30–79 %) | I 2 tilstander |
| CANT1calcium activated nucleotidase 1 | Ofte (30–79 %) | I 1 tilstand |
| CCDC22CCC complex scaffolding subunit CCDC22 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| IFT81intraflagellar transport 81 | Ofte (30–79 %) | I 1 tilstand |
| IGBP1immunoglobulin binding protein 1 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| KAT6Blysine acetyltransferase 6B | Ofte (30–79 %) | I 2 tilstander |
| MED23mediator complex subunit 23 | Ofte (30–79 %) | I 1 tilstand |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Ofte (30–79 %) | I 2 tilstander |
| MGPmatrix Gla protein | Ofte (30–79 %) | I 2 tilstander |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| NODALnodal growth differentiation factor | Ofte (30–79 %) | I 1 tilstand |
| NR2F2nuclear receptor subfamily 2 group F member 2 | Ofte (30–79 %) | I 2 tilstander |
| NSD1nuclear receptor binding SET domain protein 1 | Ofte (30–79 %) | I 2 tilstander |
| OTUD5OTU deubiquitinase 5 | Ofte (30–79 %) | I 1 tilstand |
| OTUD6BOTU deubiquitinase 6B | Ofte (30–79 %) | I 2 tilstander |
| PIK3R2phosphoinositide-3-kinase regulatory subunit 2 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| REREarginine-glutamic acid dipeptide repeats | Ofte (30–79 %) | I 2 tilstander |
| RIT1Ras like without CAAX 1 | Ofte (30–79 %) | I 1 tilstand |
| RPL10ribosomal protein L10 | Ofte (30–79 %) | I 2 tilstander |
| RPS26ribosomal protein S26 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| TGDSTDP-glucose 4,6-dehydratase | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| WDR37WD repeat domain 37 | Ofte (30–79 %) | I 1 tilstand |
| WNT4Wnt family member 4 | Ofte (30–79 %) | I 2 tilstander |
| XYLT1xylosyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| XYLT2xylosyltransferase 2 | Ofte (30–79 %) | I 1 tilstand |
| AARS1alanyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ACADVLacyl-CoA dehydrogenase very long chain | Noen ganger (5–29 %) | I 1 tilstand |
| ADA2adenosine deaminase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ADAMTS10ADAM metallopeptidase with thrombospondin type 1 motif 10 | Noen ganger (5–29 %) | I 2 tilstander |
| ADAMTS17ADAM metallopeptidase with thrombospondin type 1 motif 17 | Noen ganger (5–29 %) | I 1 tilstand |
| AHDC1AT-hook DNA binding motif containing 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| ALKBH8alkB homolog 8, tRNA methyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| ANKRD11ankyrin repeat domain 11 | Noen ganger (5–29 %) | I 1 tilstand |
| APC2APC regulator of Wnt signaling pathway 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ARCN1archain 1 coat protein complex I subunit delta | Noen ganger (5–29 %) | I 1 tilstand |
| ARID1AAT-rich interaction domain 1A | Noen ganger (5–29 %) | I 1 tilstand |
| ARID1BAT-rich interaction domain 1B | Noen ganger (5–29 %) | I 2 tilstander |
| ARID2AT-rich interaction domain 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ARXaristaless related homeobox | Noen ganger (5–29 %) | I 2 tilstander |
| ATN1atrophin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| AXIN1axin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| BAP1BRCA1 associated deubiquitinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Noen ganger (5–29 %) | I 1 tilstand |
| BCRBCR activator of RhoGEF and GTPase | Noen ganger (5–29 %) | I 1 tilstand |
| BRD4bromodomain containing 4 | Noen ganger (5–29 %) | I 2 tilstander |
| BRF1BRF1 general transcription factor IIIB subunit | Noen ganger (5–29 %) | I 2 tilstander |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Noen ganger (5–29 %) | I 1 tilstand |
| CACHD1cache domain containing 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | 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 |
| CCBE1collagen and calcium binding EGF domains 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CCDC47coiled-coil domain containing 47 | Noen ganger (5–29 %) | I 1 tilstand |
| CDC45cell division cycle 45 | Noen ganger (5–29 %) | I 1 tilstand |
| CDK8cyclin dependent kinase 8 | Noen ganger (5–29 %) | I 1 tilstand |
| CHMP1Acharged multivesicular body protein 1A | Noen ganger (5–29 %) | I 1 tilstand |
| CHRM3cholinergic receptor muscarinic 3 | Noen ganger (5–29 %) | I 1 tilstand |
| CIROPciliated left-right organizer metallopeptidase | Noen ganger (5–29 %) | I 1 tilstand |
| CIROZciliated left-right organizer protein containing ZP-N domains | Noen ganger (5–29 %) | I 1 tilstand |
| CKAP2Lcytoskeleton associated protein 2L | Noen ganger (5–29 %) | I 2 tilstander |
| CLIP2CAP-Gly domain containing linker protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| COG6component of oligomeric golgi complex 6 | Noen ganger (5–29 %) | I 1 tilstand |
| CRB2crumbs cell polarity complex component 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CREBBPCREB binding lysine acetyltransferase | Noen ganger (5–29 %) | I 3 tilstander |
| CRKLCRK like proto-oncogene, adaptor protein | Noen ganger (5–29 %) | I 1 tilstand |
| CUX1cut like homeobox 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CWC27CWC27 spliceosome associated cyclophilin | Noen ganger (5–29 %) | I 2 tilstander |
| DBR1debranching RNA lariats 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DLK1delta like non-canonical Notch ligand 1 | Noen ganger (5–29 %) | I 2 tilstander |
| DLL4delta like canonical Notch ligand 4 | Noen ganger (5–29 %) | I 1 tilstand |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Noen ganger (5–29 %) | I 1 tilstand |
| DPF2double PHD fingers 2 | Noen ganger (5–29 %) | I 2 tilstander |
| DVL1dishevelled segment polarity protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| EFTUD2elongation factor Tu GTP binding domain containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| EHMT1euchromatic histone lysine methyltransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| EIF4Heukaryotic translation initiation factor 4H | Noen ganger (5–29 %) | I 1 tilstand |
| EOGTEGF domain specific O-linked N-acetylglucosamine transferase | Noen ganger (5–29 %) | I 1 tilstand |
| EP300EP300 lysine acetyltransferase | Noen ganger (5–29 %) | I 2 tilstander |
| ERBB3erb-b2 receptor tyrosine kinase 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 |
| FADDFas associated via death domain | Noen ganger (5–29 %) | I 2 tilstander |
| FANCBFA complementation group B | Noen ganger (5–29 %) | I 1 tilstand |
| FBN1fibrillin 1 | Noen ganger (5–29 %) | I 2 tilstander |
| FBXO22F-box protein 22 | Noen ganger (5–29 %) | I 1 tilstand |
| FEM1Bfem-1 homolog B | Noen ganger (5–29 %) | I 1 tilstand |
| FILIP1filamin A interacting protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Noen ganger (5–29 %) | I 1 tilstand |
| FOCADfocadhesin | Noen ganger (5–29 %) | I 1 tilstand |
| FOXC2forkhead box C2 | Noen ganger (5–29 %) | I 1 tilstand |
| FOXF1forkhead box F1 | Noen ganger (5–29 %) | I 2 tilstander |
| FRA10AC1FRA10A associated CGG repeat 1 | Noen ganger (5–29 %) | I 1 tilstand |
| FRYLFRY like transcription coactivator | Noen ganger (5–29 %) | I 1 tilstand |
| GATA1GATA binding protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GDF3growth differentiation factor 3 | Noen ganger (5–29 %) | I 1 tilstand |
| GDF6growth differentiation factor 6 | Noen ganger (5–29 %) | I 1 tilstand |
| GJA1gap junction protein alpha 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GLI3GLI family zinc finger 3 | Noen ganger (5–29 %) | I 2 tilstander |
| GNB2G protein subunit beta 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 |
| GTF2Igeneral transcription factor IIi | Noen ganger (5–29 %) | I 1 tilstand |
| GTF2IRD1GTF2I repeat domain containing 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GTF2IRD2GTF2I repeat domain containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| HDAC8histone deacetylase 8 | Noen ganger (5–29 %) | I 1 tilstand |
| HEATR3HEAT repeat containing 3 | Noen ganger (5–29 %) | I 1 tilstand |
| HNRNPRheterogeneous nuclear ribonucleoprotein R | Noen ganger (5–29 %) | I 1 tilstand |
| HOXA13homeobox A13 | Noen ganger (5–29 %) | I 1 tilstand |
| IFT172intraflagellar transport 172 | Noen ganger (5–29 %) | I 1 tilstand |
| IFT27intraflagellar transport 27 | Noen ganger (5–29 %) | I 1 tilstand |
| IFT56intraflagellar transport 56 | Noen ganger (5–29 %) | I 1 tilstand |
| INSRinsulin receptor | Noen ganger (5–29 %) | I 1 tilstand |
| JAG1jagged canonical Notch ligand 1 | Noen ganger (5–29 %) | I 2 tilstander |
| JAM3junctional adhesion molecule 3 | Noen ganger (5–29 %) | I 1 tilstand |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| KAT8lysine acetyltransferase 8 | Noen ganger (5–29 %) | I 1 tilstand |
| KDM2Blysine demethylase 2B | Noen ganger (5–29 %) | I 1 tilstand |
| KDM3Blysine demethylase 3B | Noen ganger (5–29 %) | I 1 tilstand |
| KDM5Alysine demethylase 5A | Noen ganger (5–29 %) | I 1 tilstand |
| KDM6Alysine demethylase 6A | Noen ganger (5–29 %) | I 1 tilstand |
| KIFBPkinesin family binding protein | Noen ganger (5–29 %) | I 1 tilstand |
| KLHL41kelch like family member 41 | Noen ganger (5–29 %) | I 1 tilstand |
| KMT2Dlysine methyltransferase 2D | Noen ganger (5–29 %) | I 1 tilstand |
| KRASKRas proto-oncogene, GTPase | Noen ganger (5–29 %) | I 1 tilstand |
| LBRlamin B receptor | Noen ganger (5–29 %) | I 1 tilstand |
| LIMK1LIM domain kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| LONP1lon peptidase 1, mitochondrial | Noen ganger (5–29 %) | I 3 tilstander |
| LRP2LDL receptor related protein 2 | Noen ganger (5–29 %) | I 2 tilstander |
| LTBP2latent transforming growth factor beta binding protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| LZTR1leucine zipper like post translational regulator 1 | Noen ganger (5–29 %) | I 2 tilstander |
| MACF1microtubule actin crosslinking factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Noen ganger (5–29 %) | I 1 tilstand |
| MAPK1mitogen-activated protein kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MAU2MAU2 sister chromatid cohesion factor | Noen ganger (5–29 %) | I 1 tilstand |
| MED12mediator complex subunit 12 | Noen ganger (5–29 %) | I 3 tilstander |
| MED13Lmediator complex subunit 13L | Noen ganger (5–29 %) | I 1 tilstand |
| MED16mediator complex subunit 16 | Noen ganger (5–29 %) | I 1 tilstand |
| MED25mediator complex subunit 25 | Noen ganger (5–29 %) | I 2 tilstander |
| MEG3maternally expressed 3 | Noen ganger (5–29 %) | I 2 tilstander |
| MEIS2Meis homeobox 2 | Noen ganger (5–29 %) | I 2 tilstander |
| MEOX1mesenchyme homeobox 1 | Noen ganger (5–29 %) | I 2 tilstander |
| METTL27methyltransferase like 27 | Noen ganger (5–29 %) | I 1 tilstand |
| MICU1mitochondrial calcium uptake 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MID1midline 1 | Noen ganger (5–29 %) | I 2 tilstander |
| MIR17HGmiR-17-92a-1 cluster host gene | Noen ganger (5–29 %) | I 1 tilstand |
| MKKSMKKS centrosomal shuttling protein | Noen ganger (5–29 %) | I 1 tilstand |
| MLXIPLMLX interacting protein like | Noen ganger (5–29 %) | I 1 tilstand |
| MMP14matrix metallopeptidase 14 | Noen ganger (5–29 %) | I 1 tilstand |
| MMP2matrix metallopeptidase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MPLKIPM-phase specific PLK1 interacting protein | Noen ganger (5–29 %) | I 2 tilstander |
| MTFMTmitochondrial methionyl-tRNA formyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| MYH3myosin heavy chain 3 | Noen ganger (5–29 %) | I 1 tilstand |
| MYOCDmyocardin | Noen ganger (5–29 %) | I 1 tilstand |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Noen ganger (5–29 %) | I 2 tilstander |
| NAE1NEDD8 activating enzyme E1 subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NAV3neuron navigator 3 | Noen ganger (5–29 %) | I 1 tilstand |
| NCF1neutrophil cytosolic factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Noen ganger (5–29 %) | I 1 tilstand |
| NEK1NIMA related kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NFIXnuclear factor I X | Noen ganger (5–29 %) | I 2 tilstander |
| NIPBLNIPBL cohesin loading factor | Noen ganger (5–29 %) | I 2 tilstander |
| NKAPNFKB activating protein | Noen ganger (5–29 %) | I 1 tilstand |
| NKX2-1NK2 homeobox 1 | Noen ganger (5–29 %) | I 2 tilstander |
| NONOnon-POU domain containing octamer binding | Noen ganger (5–29 %) | I 2 tilstander |
| NOTCH1notch receptor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NOTCH2notch receptor 2 | Noen ganger (5–29 %) | I 2 tilstander |
| NXNnucleoredoxin | Noen ganger (5–29 %) | I 1 tilstand |
| ODAD1outer dynein arm docking complex subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ODAD3outer dynein arm docking complex subunit 3 | Noen ganger (5–29 %) | I 1 tilstand |
| PACS1phosphofurin acidic cluster sorting protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PACS2phosphofurin acidic cluster sorting protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PAHphenylalanine hydroxylase | Noen ganger (5–29 %) | I 1 tilstand |
| PALB2partner and localizer of BRCA2 | Noen ganger (5–29 %) | I 1 tilstand |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PEX1peroxisomal biogenesis factor 1 | Noen ganger (5–29 %) | I 2 tilstander |
| PEX10peroxisomal biogenesis factor 10 | Noen ganger (5–29 %) | I 1 tilstand |
| PEX11Bperoxisomal biogenesis factor 11 beta | Noen ganger (5–29 %) | I 1 tilstand |
| PEX12peroxisomal biogenesis factor 12 | Noen ganger (5–29 %) | I 1 tilstand |
| PEX13peroxisomal biogenesis factor 13 | Noen ganger (5–29 %) | I 1 tilstand |
| PEX14peroxisomal biogenesis factor 14 | Noen ganger (5–29 %) | I 1 tilstand |
| PEX16peroxisomal biogenesis factor 16 | Noen ganger (5–29 %) | I 2 tilstander |
| PEX19peroxisomal biogenesis factor 19 | Noen ganger (5–29 %) | I 1 tilstand |
| PEX2peroxisomal biogenesis factor 2 | Noen ganger (5–29 %) | I 2 tilstander |
| PEX26peroxisomal biogenesis factor 26 | Noen ganger (5–29 %) | I 1 tilstand |
| PEX3peroxisomal biogenesis factor 3 | Noen ganger (5–29 %) | I 1 tilstand |
| PEX5peroxisomal biogenesis factor 5 | Noen ganger (5–29 %) | I 1 tilstand |
| PEX6peroxisomal biogenesis factor 6 | Noen ganger (5–29 %) | I 1 tilstand |
| PGM1phosphoglucomutase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Noen ganger (5–29 %) | I 2 tilstander |
| POLA1DNA polymerase alpha 1, catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| POLR1ARNA polymerase I subunit A | Noen ganger (5–29 %) | I 1 tilstand |
| PPFIBP1PPFIB scaffold protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PPM1Dprotein phosphatase, Mg2+/Mn2+ dependent 1D | Noen ganger (5–29 %) | I 1 tilstand |
| PPP1R13Lprotein phosphatase 1 regulatory subunit 13 like | Noen ganger (5–29 %) | I 1 tilstand |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Noen ganger (5–29 %) | I 1 tilstand |
| PRDM13PR/SET domain 13 | Noen ganger (5–29 %) | I 1 tilstand |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Noen ganger (5–29 %) | I 1 tilstand |
| RAB34RAB34, member RAS oncogene family | Noen ganger (5–29 %) | I 1 tilstand |
| RAC1Rac family small GTPase 1 | Noen ganger (5–29 %) | I 2 tilstander |
| RAD21RAD21 cohesin complex component | Noen ganger (5–29 %) | I 1 tilstand |
| RAI1retinoic acid induced 1 | Noen ganger (5–29 %) | I 1 tilstand |
| RAP1BRAP1B, member of RAS oncogene family | Noen ganger (5–29 %) | I 1 tilstand |
| RBM8ARNA binding motif protein 8A | Noen ganger (5–29 %) | I 1 tilstand |
| RBMXRNA binding motif protein X-linked | Noen ganger (5–29 %) | I 1 tilstand |
| RFC2replication factor C subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| RFX7regulatory factor X7 | Noen ganger (5–29 %) | I 1 tilstand |
| RNF113Aring finger protein 113A | Noen ganger (5–29 %) | I 1 tilstand |
| RNU4-2RNA, U4 small nuclear 2 | Noen ganger (5–29 %) | I 1 tilstand |
| RNU4ATACRNA, U4atac small nuclear | Noen ganger (5–29 %) | I 2 tilstander |
| ROR2ROR family WNT receptor 2 | Noen ganger (5–29 %) | I 2 tilstander |
| RPL11ribosomal protein L11 | Noen ganger (5–29 %) | I 2 tilstander |
| RPL18ribosomal protein L18 | Noen ganger (5–29 %) | I 1 tilstand |
| RPL26ribosomal protein L26 | Noen ganger (5–29 %) | I 1 tilstand |
| RPL27ribosomal protein L27 | Noen ganger (5–29 %) | I 1 tilstand |
| RPL31ribosomal protein L31 | Noen ganger (5–29 %) | I 1 tilstand |
| RPL35ribosomal protein L35 | Noen ganger (5–29 %) | I 1 tilstand |
| RPL35Aribosomal protein L35a | Noen ganger (5–29 %) | I 2 tilstander |
| RPL5ribosomal protein L5 | Noen ganger (5–29 %) | I 2 tilstander |
| RPL8ribosomal protein L8 | Noen ganger (5–29 %) | I 1 tilstand |
| RPL9ribosomal protein L9 | Noen ganger (5–29 %) | I 1 tilstand |
| RPS10ribosomal protein S10 | Noen ganger (5–29 %) | I 1 tilstand |
| RPS15Aribosomal protein S15a | Noen ganger (5–29 %) | I 1 tilstand |
| RPS17ribosomal protein S17 | Noen ganger (5–29 %) | I 1 tilstand |
| RPS19ribosomal protein S19 | Noen ganger (5–29 %) | I 2 tilstander |
| RPS20ribosomal protein S20 | Noen ganger (5–29 %) | I 1 tilstand |
| RPS24ribosomal protein S24 | Noen ganger (5–29 %) | I 1 tilstand |
| RPS27ribosomal protein S27 | Noen ganger (5–29 %) | I 1 tilstand |
| RPS28ribosomal protein S28 | Noen ganger (5–29 %) | I 1 tilstand |
| RPS29ribosomal protein S29 | Noen ganger (5–29 %) | I 1 tilstand |
| RPS7ribosomal protein S7 | Noen ganger (5–29 %) | I 1 tilstand |
| RTL1retrotransposon Gag like 1 | Noen ganger (5–29 %) | I 2 tilstander |
| SALL1spalt like transcription factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SATB1SATB homeobox 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SATB2SATB homeobox 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Noen ganger (5–29 %) | I 1 tilstand |
| SF3B2splicing factor 3b subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SF3B4splicing factor 3b subunit 4 | Noen ganger (5–29 %) | I 1 tilstand |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Noen ganger (5–29 %) | I 1 tilstand |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Noen ganger (5–29 %) | I 1 tilstand |
| SKIC3SKI3 subunit of superkiller complex | Noen ganger (5–29 %) | I 2 tilstander |
| SLC12A2solute carrier family 12 member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC19A2solute carrier family 19 member 2 | Noen ganger (5–29 %) | I 2 tilstander |
| SLC37A4solute carrier family 37 member 4 | 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 |
| SLF2SMC5/6 complex localization factor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SMAD4SMAD family member 4 | Noen ganger (5–29 %) | I 1 tilstand |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Noen ganger (5–29 %) | I 2 tilstander |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Noen ganger (5–29 %) | I 1 tilstand |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Noen ganger (5–29 %) | I 1 tilstand |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Noen ganger (5–29 %) | I 1 tilstand |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Noen ganger (5–29 %) | I 1 tilstand |
| SMC1Astructural maintenance of chromosomes 1A | Noen ganger (5–29 %) | I 2 tilstander |
| SMC3structural maintenance of chromosomes 3 | Noen ganger (5–29 %) | I 2 tilstander |
| SNRPBsmall nuclear ribonucleoprotein polypeptides B and B1 | Noen ganger (5–29 %) | I 2 tilstander |
| SONSON DNA and RNA binding protein | Noen ganger (5–29 %) | I 1 tilstand |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SOX11SRY-box transcription factor 11 | Noen ganger (5–29 %) | I 1 tilstand |
| SOX17SRY-box transcription factor 17 | Noen ganger (5–29 %) | I 1 tilstand |
| SOX2SRY-box transcription factor 2 | Noen ganger (5–29 %) | I 2 tilstander |
| SOX4SRY-box transcription factor 4 | Noen ganger (5–29 %) | I 2 tilstander |
| SPENspen family transcriptional repressor | Noen ganger (5–29 %) | I 1 tilstand |
| STAG1STAG1 cohesin complex component | Noen ganger (5–29 %) | I 1 tilstand |
| STAG2STAG2 cohesin complex component | Noen ganger (5–29 %) | I 1 tilstand |
| STX1Asyntaxin 1A | Noen ganger (5–29 %) | I 1 tilstand |
| TAOK1TAO kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TARS1threonyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TBC1D24TBC1 domain family member 24 | Noen ganger (5–29 %) | I 1 tilstand |
| TBCKTBC1 domain containing kinase | Noen ganger (5–29 %) | I 1 tilstand |
| TBL2transducin beta like 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TBX3T-box transcription factor 3 | Noen ganger (5–29 %) | I 2 tilstander |
| TCTN3tectonic family member 3 | Noen ganger (5–29 %) | I 1 tilstand |
| TET3tet methylcytosine dioxygenase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| TFAP2Btranscription factor AP-2 beta | Noen ganger (5–29 %) | I 1 tilstand |
| TIAM1TIAM Rac1 associated GEF 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TMEM237transmembrane protein 237 | Noen ganger (5–29 %) | I 1 tilstand |
| TMEM270transmembrane protein 270 | Noen ganger (5–29 %) | I 1 tilstand |
| TMEM53transmembrane protein 53 | Noen ganger (5–29 %) | I 1 tilstand |
| TRAF7TNF receptor associated factor 7 | Noen ganger (5–29 %) | I 1 tilstand |
| TRIOtrio Rho guanine nucleotide exchange factor | Noen ganger (5–29 %) | I 1 tilstand |
| TRRAPtransformation/transcription domain associated protein | Noen ganger (5–29 %) | I 1 tilstand |
| TSHZ3teashirt zinc finger homeobox 3 | Noen ganger (5–29 %) | I 1 tilstand |
| TSR2TSR2 ribosome maturation factor | Noen ganger (5–29 %) | I 1 tilstand |
| TTC7Atetratricopeptide repeat domain 7A | Noen ganger (5–29 %) | I 2 tilstander |
| UBR7ubiquitin protein ligase E3 component n-recognin 7 | Noen ganger (5–29 %) | I 1 tilstand |
| UMPSuridine monophosphate synthetase | Noen ganger (5–29 %) | I 1 tilstand |
| VPS13Bvacuolar protein sorting 13 homolog B | Noen ganger (5–29 %) | I 1 tilstand |
| VPS37DVPS37D subunit of ESCRT-I | 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 |
| WDR26WD repeat domain 26 | Noen ganger (5–29 %) | I 2 tilstander |
| WSB2WD repeat and SOCS box containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| WT1WT1 transcription factor | Noen ganger (5–29 %) | I 2 tilstander |
| YARS1tyrosyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| YY1AP1YY1 associated protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ZBTB7Azinc finger and BTB domain containing 7A | Noen ganger (5–29 %) | I 1 tilstand |
| ZFXzinc finger protein X-linked | Noen ganger (5–29 %) | I 1 tilstand |
| ZMYM2zinc finger MYM-type containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ZNF462zinc finger protein 462 | Noen ganger (5–29 %) | I 1 tilstand |
| ZNF699zinc finger protein 699 | Noen ganger (5–29 %) | I 1 tilstand |
| ZRSR2zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Sjelden (1–4%) | I 1 tilstand |
| ARSLarylsulfatase L | Sjelden (1–4%) | I 1 tilstand |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Sjelden (1–4%) | I 1 tilstand |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Sjelden (1–4%) | I 1 tilstand |
| CASKcalcium/calmodulin dependent serine protein kinase | Sjelden (1–4%) | I 1 tilstand |
| CDKL5cyclin dependent kinase like 5 | Sjelden (1–4%) | I 1 tilstand |
| DMXL2Dmx like 2 | Sjelden (1–4%) | I 1 tilstand |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Sjelden (1–4%) | I 2 tilstander |
| GGCXgamma-glutamyl carboxylase | Sjelden (1–4%) | I 1 tilstand |
| GNAO1G protein subunit alpha o1 | Sjelden (1–4%) | I 1 tilstand |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Sjelden (1–4%) | I 1 tilstand |
| GRM7glutamate metabotropic receptor 7 | Sjelden (1–4%) | I 1 tilstand |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Sjelden (1–4%) | I 1 tilstand |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Sjelden (1–4%) | I 1 tilstand |
| KDM6Blysine demethylase 6B | Sjelden (1–4%) | I 1 tilstand |
| LGI1leucine rich glioma inactivated 1 | Sjelden (1–4%) | I 1 tilstand |
| MAP2K1mitogen-activated protein kinase kinase 1 | Sjelden (1–4%) | I 2 tilstander |
| MT-CYBmitochondrially encoded cytochrome b | Sjelden (1–4%) | I 1 tilstand |
| NEUROD2neuronal differentiation 2 | Sjelden (1–4%) | I 1 tilstand |
| NF1neurofibromin 1 | Sjelden (1–4%) | I 2 tilstander |
| NIPA1NIPA magnesium transporter 1 | Sjelden (1–4%) | I 1 tilstand |
| NIPA2NIPA magnesium transporter 2 | Sjelden (1–4%) | I 1 tilstand |
| NUP107nucleoporin 107 | Sjelden (1–4%) | I 2 tilstander |
| PI4KAphosphatidylinositol 4-kinase alpha | Sjelden (1–4%) | I 1 tilstand |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Sjelden (1–4%) | I 1 tilstand |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Sjelden (1–4%) | I 1 tilstand |
| PNKPpolynucleotide kinase 3'-phosphatase | Sjelden (1–4%) | I 1 tilstand |
| PORCNporcupine O-acyltransferase | Sjelden (1–4%) | I 1 tilstand |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Sjelden (1–4%) | I 1 tilstand |
| RHOBTB2Rho related BTB domain containing 2 | Sjelden (1–4%) | I 1 tilstand |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Sjelden (1–4%) | I 1 tilstand |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Sjelden (1–4%) | I 1 tilstand |
| SIK1salt inducible kinase 1 | Sjelden (1–4%) | I 1 tilstand |
| SKIC2SKI2 subunit of superkiller complex | Sjelden (1–4%) | I 1 tilstand |
| SLC25A22solute carrier family 25 member 22 | Sjelden (1–4%) | I 1 tilstand |
| SLC32A1solute carrier family 32 member 1 | Sjelden (1–4%) | I 1 tilstand |
| SPTBN1spectrin beta, non-erythrocytic 1 | Sjelden (1–4%) | I 1 tilstand |
| TGFB3transforming growth factor beta 3 | Sjelden (1–4%) | I 1 tilstand |
| TRIM8tripartite motif containing 8 | Sjelden (1–4%) | I 1 tilstand |
| TUBG1tubulin gamma 1 | Sjelden (1–4%) | I 1 tilstand |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Sjelden (1–4%) | I 1 tilstand |
| VKORC1vitamin K epoxide reductase complex subunit 1 | Sjelden (1–4%) | I 1 tilstand |
| VPS33BVPS33B late endosome and lysosome associated | Sjelden (1–4%) | I 1 tilstand |
| ZEB2zinc finger E-box binding homeobox 2 | Sjelden (1–4%) | I 2 tilstander |
| AMER1APC membrane recruitment protein 1 | Ikke registrert | I 1 tilstand |
| ARHGAP31Rho GTPase activating protein 31 | Ikke registrert | I 1 tilstand |
| ASXL1ASXL transcriptional regulator 1 | Ikke registrert | I 1 tilstand |
| ATRXATRX chromatin remodeler | Ikke registrert | I 1 tilstand |
| B3GALT6beta-1,3-galactosyltransferase 6 | Ikke registrert | I 1 tilstand |
| B3GLCTbeta 3-glucosyltransferase | Ikke registrert | I 1 tilstand |
| CCDC174coiled-coil domain containing 174 | Ikke registrert | I 1 tilstand |
| CD96CD96 molecule | Ikke registrert | I 1 tilstand |
| CEP290centrosomal protein 290 | Ikke registrert | I 1 tilstand |
| CHST3carbohydrate sulfotransferase 3 | Ikke registrert | I 1 tilstand |
| COX7Bcytochrome c oxidase subunit 7B | Ikke registrert | I 1 tilstand |
| CPLX1complexin 1 | Ikke registrert | I 1 tilstand |
| CTBP1C-terminal binding protein 1 | Ikke registrert | I 1 tilstand |
| DGCR2DiGeorge syndrome critical region gene 2 | Ikke registrert | I 1 tilstand |
| DGCR6DiGeorge syndrome critical region gene 6 | Ikke registrert | I 1 tilstand |
| DGCR8DGCR8 microprocessor complex subunit | Ikke registrert | I 1 tilstand |
| DYNC2I1dynein 2 intermediate chain 1 | Ikke registrert | I 1 tilstand |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Ikke registrert | I 1 tilstand |
| ESS2ess-2 spliceosome associated protein | Ikke registrert | I 1 tilstand |
| FBN2fibrillin 2 | Ikke registrert | I 1 tilstand |
| FGFR1fibroblast growth factor receptor 1 | Ikke registrert | I 1 tilstand |
| FGFR2fibroblast growth factor receptor 2 | Ikke registrert | I 1 tilstand |
| FGFRL1fibroblast growth factor receptor like 1 | Ikke registrert | I 1 tilstand |
| FLNBfilamin B | Ikke registrert | I 1 tilstand |
| GDF1growth differentiation factor 1 | Ikke registrert | I 2 tilstander |
| GPC6glypican 6 | Ikke registrert | I 1 tilstand |
| HCCSholocytochrome c synthase | Ikke registrert | I 1 tilstand |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Ikke registrert | I 1 tilstand |
| IGF1Rinsulin like growth factor 1 receptor | Ikke registrert | I 1 tilstand |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Ikke registrert | I 1 tilstand |
| LRP5LDL receptor related protein 5 | Ikke registrert | I 1 tilstand |
| MASP1MBL associated serine protease 1 | Ikke registrert | I 1 tilstand |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Ikke registrert | I 1 tilstand |
| NSD2nuclear receptor binding SET domain protein 2 | Ikke registrert | I 1 tilstand |
| PHGDHphosphoglycerate dehydrogenase | Ikke registrert | I 1 tilstand |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Ikke registrert | I 1 tilstand |
| PQBP1polyglutamine binding protein 1 | Ikke registrert | I 1 tilstand |
| RAB23RAB23, member RAS oncogene family | Ikke registrert | I 1 tilstand |
| RARBretinoic acid receptor beta | Ikke registrert | I 1 tilstand |
| RSPO2R-spondin 2 | Ikke registrert | I 1 tilstand |
| SALL4spalt like transcription factor 4 | Ikke registrert | I 1 tilstand |
| SIX6SIX homeobox 6 | Ikke registrert | I 1 tilstand |
| SMN1survival of motor neuron 1, telomeric | Ikke registrert | I 1 tilstand |
| STAMBPSTAM binding protein | Ikke registrert | I 1 tilstand |
| TAB2TGF-beta activated kinase 1 (MAP3K7) binding protein 2 | Ikke registrert | I 1 tilstand |
| TALDO1transaldolase 1 | Ikke registrert | I 1 tilstand |
| TAPT1transmembrane anterior posterior transformation 1 | Ikke registrert | I 1 tilstand |
| TP63tumor protein p63 | Ikke registrert | I 1 tilstand |
| TRAIPTRAF interacting protein | Ikke registrert | I 1 tilstand |
| TXNL4Athioredoxin like 4A | Ikke registrert | I 1 tilstand |
| UBE3Bubiquitin protein ligase E3B | Ikke registrert | I 1 tilstand |
| UBR1ubiquitin protein ligase E3 component n-recognin 1 | Ikke registrert | I 1 tilstand |
| VIPAS39VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog | 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
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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.
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