Cecha
Hole in heart wall separating two lower heart chambers
Nazwa kliniczna: 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.
Podsumowanie
- Znana także jako
- Ventricular septal defects, Ventriculoseptal defect, VSD
- Układ organizmu
- Abnormality of the cardiovascular system
Genom referencyjnyGRCh38hg38
Pozycje na stronach genów i wariantów zależą od tego wyboru, w tej przeglądarce.
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Zamawiam Genome Test523 genów powiązanych z Hole in heart wall separating two lower heart chambers
Zmiany w tych genach powodują rzadkie choroby, w których występuje Hole in heart wall separating two lower heart chambers. Większość osób z tą cechą nie ma żadnej z tych chorób, a gen z tej listy nic nie mówi o czyimkolwiek własnym genomie.
| Gen | Jak często występuje | Choroby |
|---|---|---|
| AMOTL1angiomotin like 1 | Zawsze | W 1 chorobie |
| CHD7chromodomain helicase DNA binding protein 7 | Zawsze | W 1 chorobie |
| COQ4coenzyme Q4 | Zawsze | W 1 chorobie |
| CTCFCCCTC-binding factor | Zawsze | W 1 chorobie |
| DDX11DEAD/H-box helicase 11 | Zawsze | W 1 chorobie |
| DNMT3ADNA methyltransferase 3 alpha | Zawsze | W 1 chorobie |
| ECE1endothelin converting enzyme 1 | Zawsze | W 1 chorobie |
| ERI1exoribonuclease 1 | Zawsze | W 1 chorobie |
| FAAP100FA core complex associated protein 100 | Zawsze | W 1 chorobie |
| FANCCFA complementation group C | Zawsze | W 1 chorobie |
| FANCIFA complementation group I | Zawsze | W 1 chorobie |
| FIBPFGF1 intracellular binding protein | Zawsze | W 2 chorobach |
| FLNAfilamin A | Zawsze | W 1 chorobie |
| GPC3glypican 3 | Zawsze | W 2 chorobach |
| LARS2leucyl-tRNA synthetase 2, mitochondrial | Zawsze | W 1 chorobie |
| NKX2-5NK2 homeobox 5 | Zawsze | W 3 chorobach |
| NOTCH3notch receptor 3 | Zawsze | W 3 chorobach |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Zawsze | W 1 chorobie |
| PKD1L1polycystin 1 like 1, transient receptor potential channel interacting | Zawsze | W 1 chorobie |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Zawsze | W 1 chorobie |
| RFC4replication factor C subunit 4 | Zawsze | W 1 chorobie |
| RNU2-2RNA, U2 small nuclear 2 | Zawsze | W 1 chorobie |
| RNU5B-1RNA, U5B small nuclear 1 | Zawsze | W 1 chorobie |
| RPL15ribosomal protein L15 | Zawsze | W 2 chorobach |
| RYR1ryanodine receptor 1 | Zawsze | W 1 chorobie |
| SMG9SMG9 nonsense mediated mRNA decay factor | Zawsze | W 2 chorobach |
| SNAPINSNAP associated protein | Zawsze | W 1 chorobie |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Zawsze | W 2 chorobach |
| SRSF1serine and arginine rich splicing factor 1 | Zawsze | W 1 chorobie |
| TBC1D32TBC1 domain family member 32 | Zawsze | W 1 chorobie |
| TM2D3TM2 domain containing 3 | Zawsze | W 1 chorobie |
| TMEM260transmembrane protein 260 | Zawsze | W 1 chorobie |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Zawsze | W 1 chorobie |
| ARVCFARVCF delta catenin family member | Bardzo często (80–99%) | W 1 chorobie |
| COMTcatechol-O-methyltransferase | Bardzo często (80–99%) | W 1 chorobie |
| DTNAdystrobrevin alpha | Bardzo często (80–99%) | W 1 chorobie |
| GATA6GATA binding protein 6 | Bardzo często (80–99%) | W 2 chorobach |
| GP1BBglycoprotein Ib platelet subunit beta | Bardzo często (80–99%) | W 1 chorobie |
| GPC4glypican 4 | Bardzo często (80–99%) | W 1 chorobie |
| HIRAhistone cell cycle regulator | Bardzo często (80–99%) | W 1 chorobie |
Pokaż jeszcze 483 genów
| Gen | Jak często występuje | Choroby |
|---|---|---|
| HRASHRas proto-oncogene, GTPase | Bardzo często (80–99%) | W 2 chorobach |
| HYMAIhydatidiform mole associated and imprinted | Bardzo często (80–99%) | W 1 chorobie |
| JMJD1Cjumonji domain containing 1C | Bardzo często (80–99%) | W 1 chorobie |
| PLAGL1PLAG1 like zinc finger 1 | Bardzo często (80–99%) | W 1 chorobie |
| PPP2R3Cprotein phosphatase 2 regulatory subunit B''gamma | Bardzo często (80–99%) | W 1 chorobie |
| RREB1ras responsive element binding protein 1 | Bardzo często (80–99%) | W 1 chorobie |
| SEC24CSEC24 homolog C, COPII component | Bardzo często (80–99%) | W 1 chorobie |
| SLC29A3solute carrier family 29 member 3 | Bardzo często (80–99%) | W 2 chorobach |
| TBX1T-box transcription factor 1 | Bardzo często (80–99%) | W 4 chorobach |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Bardzo często (80–99%) | W 1 chorobie |
| TKTtransketolase | Bardzo często (80–99%) | W 2 chorobach |
| TNFRSF11ATNF receptor superfamily member 11a | Bardzo często (80–99%) | W 1 chorobie |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Bardzo często (80–99%) | W 1 chorobie |
| ZIC3Zic family zinc finger 3 | Bardzo często (80–99%) | W 1 chorobie |
| ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase | Często (30–79%) | W 1 chorobie |
| ACVR2Bactivin A receptor type 2B | Często (30–79%) | W 1 chorobie |
| AFF4ALF transcription elongation factor 4 | Często (30–79%) | W 2 chorobach |
| AKT3AKT serine/threonine kinase 3 | Często (30–79%) | W 1 chorobie |
| ALDH1A2aldehyde dehydrogenase 1 family member A2 | Często (30–79%) | W 1 chorobie |
| ATP6V1AATPase H+ transporting V1 subunit A | Często (30–79%) | W 1 chorobie |
| BCORBCL6 corepressor | Często (30–79%) | W 1 chorobie |
| C2CD3C2 domain containing 3 centriole elongation regulator | Często (30–79%) | W 2 chorobach |
| CACNA1Dcalcium voltage-gated channel subunit alpha1 D | Często (30–79%) | W 2 chorobach |
| CANT1calcium activated nucleotidase 1 | Często (30–79%) | W 1 chorobie |
| CCDC22CCC complex scaffolding subunit CCDC22 | Często (30–79%) | W 2 chorobach |
| CCDC32coiled-coil domain containing 32 | Często (30–79%) | W 1 chorobie |
| CCND2cyclin D2 | Często (30–79%) | W 1 chorobie |
| CDK13cyclin dependent kinase 13 | Często (30–79%) | W 1 chorobie |
| CEP57centrosomal protein 57 | Często (30–79%) | W 1 chorobie |
| CHD4chromodomain helicase DNA binding protein 4 | Często (30–79%) | W 1 chorobie |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Często (30–79%) | W 2 chorobach |
| CTU2cytosolic thiouridylase subunit 2 | Często (30–79%) | W 1 chorobie |
| DAW1dynein assembly factor with WD repeats 1 | Często (30–79%) | W 1 chorobie |
| DDX59DEAD-box helicase 59 | Często (30–79%) | W 1 chorobie |
| DHCR77-dehydrocholesterol reductase | Często (30–79%) | W 2 chorobach |
| DLG5discs large MAGUK scaffold protein 5 | Często (30–79%) | W 1 chorobie |
| DOHHdeoxyhypusine hydroxylase | Często (30–79%) | W 1 chorobie |
| DOT1LDOT1 like histone lysine methyltransferase | Często (30–79%) | W 1 chorobie |
| DPH1diphthamide biosynthesis 1 | Często (30–79%) | W 1 chorobie |
| DPYSL5dihydropyrimidinase like 5 | Często (30–79%) | W 1 chorobie |
| DSTdystonin | Często (30–79%) | W 1 chorobie |
| DVL3dishevelled segment polarity protein 3 | Często (30–79%) | W 1 chorobie |
| DYNC2LI1dynein cytoplasmic 2 light intermediate chain 1 | Często (30–79%) | W 1 chorobie |
| ECHS1enoyl-CoA hydratase, short chain 1 | Często (30–79%) | W 1 chorobie |
| ELNelastin | Często (30–79%) | W 3 chorobach |
| EVCEvC ciliary complex subunit 1 | Często (30–79%) | W 1 chorobie |
| EVC2EvC ciliary complex subunit 2 | Często (30–79%) | W 1 chorobie |
| EXOC2exocyst complex component 2 | Często (30–79%) | W 1 chorobie |
| EXT2exostosin glycosyltransferase 2 | Często (30–79%) | W 1 chorobie |
| FIG4FIG4 phosphoinositide 5-phosphatase | Często (30–79%) | W 2 chorobach |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Często (30–79%) | W 1 chorobie |
| FTOFTO alpha-ketoglutarate dependent dioxygenase | Często (30–79%) | W 1 chorobie |
| GATA4GATA binding protein 4 | Często (30–79%) | W 2 chorobach |
| GATA5GATA binding protein 5 | Często (30–79%) | W 1 chorobie |
| GLI1GLI family zinc finger 1 | Często (30–79%) | W 1 chorobie |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Często (30–79%) | W 2 chorobach |
| IFT81intraflagellar transport 81 | Często (30–79%) | W 1 chorobie |
| IGBP1immunoglobulin binding protein 1 | Często (30–79%) | W 2 chorobach |
| IPO8importin 8 | Często (30–79%) | W 1 chorobie |
| KAT5lysine acetyltransferase 5 | Często (30–79%) | W 1 chorobie |
| KAT6Alysine acetyltransferase 6A | Często (30–79%) | W 2 chorobach |
| KAT6Blysine acetyltransferase 6B | Często (30–79%) | W 2 chorobach |
| MED23mediator complex subunit 23 | Często (30–79%) | W 1 chorobie |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Często (30–79%) | W 2 chorobach |
| MGPmatrix Gla protein | Często (30–79%) | W 2 chorobach |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Często (30–79%) | W 2 chorobach |
| MYRFmyelin regulatory factor | Często (30–79%) | W 1 chorobie |
| NAA20N-alpha-acetyltransferase 20, NatB catalytic subunit | Często (30–79%) | W 1 chorobie |
| NEK9NIMA related kinase 9 | Często (30–79%) | W 2 chorobach |
| NODALnodal growth differentiation factor | Często (30–79%) | W 1 chorobie |
| NR2F2nuclear receptor subfamily 2 group F member 2 | Często (30–79%) | W 2 chorobach |
| NSD1nuclear receptor binding SET domain protein 1 | Często (30–79%) | W 2 chorobach |
| OTUD5OTU deubiquitinase 5 | Często (30–79%) | W 1 chorobie |
| OTUD6BOTU deubiquitinase 6B | Często (30–79%) | W 2 chorobach |
| PIK3R2phosphoinositide-3-kinase regulatory subunit 2 | Często (30–79%) | W 2 chorobach |
| PLCH1phospholipase C eta 1 | Często (30–79%) | W 1 chorobie |
| PLD1phospholipase D1 | Często (30–79%) | W 1 chorobie |
| PLXND1plexin D1 | Często (30–79%) | W 1 chorobie |
| PRKACAprotein kinase cAMP-activated catalytic subunit alpha | Często (30–79%) | W 1 chorobie |
| PRKACBprotein kinase cAMP-activated catalytic subunit beta | Często (30–79%) | W 1 chorobie |
| PUF60poly(U) binding splicing factor 60 | Często (30–79%) | W 3 chorobach |
| REREarginine-glutamic acid dipeptide repeats | Często (30–79%) | W 2 chorobach |
| RIT1Ras like without CAAX 1 | Często (30–79%) | W 1 chorobie |
| RPL10ribosomal protein L10 | Często (30–79%) | W 2 chorobach |
| RPS26ribosomal protein S26 | Często (30–79%) | W 2 chorobach |
| RRAGCRas related GTP binding C | Często (30–79%) | W 1 chorobie |
| RRAS2RAS related 2 | Często (30–79%) | W 1 chorobie |
| SCAF4SR-related CTD associated factor 4 | Często (30–79%) | W 1 chorobie |
| SH3PXD2BSH3 and PX domains 2B | Często (30–79%) | W 1 chorobie |
| SMAD2SMAD family member 2 | Często (30–79%) | W 1 chorobie |
| SMG8SMG8 nonsense mediated mRNA decay factor | Często (30–79%) | W 1 chorobie |
| STRA6signaling receptor and transporter of retinol STRA6 | Często (30–79%) | W 1 chorobie |
| TASP1taspase 1 | Często (30–79%) | W 1 chorobie |
| TBX5T-box transcription factor 5 | Często (30–79%) | W 2 chorobach |
| TGDSTDP-glucose 4,6-dehydratase | Często (30–79%) | W 2 chorobach |
| THOC6THO complex subunit 6 | Często (30–79%) | W 1 chorobie |
| TMEM94transmembrane protein 94 | Często (30–79%) | W 1 chorobie |
| TPRtranslocated promoter region, nuclear basket protein | Często (30–79%) | W 1 chorobie |
| UBE2Aubiquitin conjugating enzyme E2 A | Często (30–79%) | W 1 chorobie |
| UQCRFS1ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 | Często (30–79%) | W 1 chorobie |
| VAC14VAC14 component of PIKFYVE complex | Często (30–79%) | W 1 chorobie |
| VPS35LVPS35 endosomal protein sorting factor like | Często (30–79%) | W 1 chorobie |
| WASHC5WASH complex subunit 5 | Często (30–79%) | W 2 chorobach |
| WDR37WD repeat domain 37 | Często (30–79%) | W 1 chorobie |
| WNT4Wnt family member 4 | Często (30–79%) | W 2 chorobach |
| XYLT1xylosyltransferase 1 | Często (30–79%) | W 1 chorobie |
| XYLT2xylosyltransferase 2 | Często (30–79%) | W 1 chorobie |
| AARS1alanyl-tRNA synthetase 1 | Czasami (5–29%) | W 1 chorobie |
| ACADVLacyl-CoA dehydrogenase very long chain | Czasami (5–29%) | W 1 chorobie |
| ADA2adenosine deaminase 2 | Czasami (5–29%) | W 1 chorobie |
| ADAMTS10ADAM metallopeptidase with thrombospondin type 1 motif 10 | Czasami (5–29%) | W 2 chorobach |
| ADAMTS17ADAM metallopeptidase with thrombospondin type 1 motif 17 | Czasami (5–29%) | W 1 chorobie |
| AHDC1AT-hook DNA binding motif containing 1 | Czasami (5–29%) | W 1 chorobie |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Czasami (5–29%) | W 1 chorobie |
| ALKBH8alkB homolog 8, tRNA methyltransferase | Czasami (5–29%) | W 1 chorobie |
| ANKRD11ankyrin repeat domain 11 | Czasami (5–29%) | W 1 chorobie |
| APC2APC regulator of Wnt signaling pathway 2 | Czasami (5–29%) | W 1 chorobie |
| ARCN1archain 1 coat protein complex I subunit delta | Czasami (5–29%) | W 1 chorobie |
| ARID1AAT-rich interaction domain 1A | Czasami (5–29%) | W 1 chorobie |
| ARID1BAT-rich interaction domain 1B | Czasami (5–29%) | W 2 chorobach |
| ARID2AT-rich interaction domain 2 | Czasami (5–29%) | W 1 chorobie |
| ARXaristaless related homeobox | Czasami (5–29%) | W 2 chorobach |
| ATN1atrophin 1 | Czasami (5–29%) | W 1 chorobie |
| AXIN1axin 1 | Czasami (5–29%) | W 1 chorobie |
| BAP1BRCA1 associated deubiquitinase 1 | Czasami (5–29%) | W 1 chorobie |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Czasami (5–29%) | W 1 chorobie |
| BCRBCR activator of RhoGEF and GTPase | Czasami (5–29%) | W 1 chorobie |
| BRD4bromodomain containing 4 | Czasami (5–29%) | W 2 chorobach |
| BRF1BRF1 general transcription factor IIIB subunit | Czasami (5–29%) | W 2 chorobach |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Czasami (5–29%) | W 1 chorobie |
| CACHD1cache domain containing 1 | Czasami (5–29%) | W 1 chorobie |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Czasami (5–29%) | W 1 chorobie |
| CAMK2Acalcium/calmodulin dependent protein kinase II alpha | Czasami (5–29%) | W 1 chorobie |
| CARS1cysteinyl-tRNA synthetase 1 | Czasami (5–29%) | W 1 chorobie |
| CCBE1collagen and calcium binding EGF domains 1 | Czasami (5–29%) | W 1 chorobie |
| CCDC47coiled-coil domain containing 47 | Czasami (5–29%) | W 1 chorobie |
| CDC45cell division cycle 45 | Czasami (5–29%) | W 1 chorobie |
| CDK8cyclin dependent kinase 8 | Czasami (5–29%) | W 1 chorobie |
| CHMP1Acharged multivesicular body protein 1A | Czasami (5–29%) | W 1 chorobie |
| CHRM3cholinergic receptor muscarinic 3 | Czasami (5–29%) | W 1 chorobie |
| CIROPciliated left-right organizer metallopeptidase | Czasami (5–29%) | W 1 chorobie |
| CIROZciliated left-right organizer protein containing ZP-N domains | Czasami (5–29%) | W 1 chorobie |
| CKAP2Lcytoskeleton associated protein 2L | Czasami (5–29%) | W 2 chorobach |
| CLIP2CAP-Gly domain containing linker protein 2 | Czasami (5–29%) | W 1 chorobie |
| COG6component of oligomeric golgi complex 6 | Czasami (5–29%) | W 1 chorobie |
| CRB2crumbs cell polarity complex component 2 | Czasami (5–29%) | W 1 chorobie |
| CREBBPCREB binding lysine acetyltransferase | Czasami (5–29%) | W 3 chorobach |
| CRKLCRK like proto-oncogene, adaptor protein | Czasami (5–29%) | W 1 chorobie |
| CUX1cut like homeobox 1 | Czasami (5–29%) | W 1 chorobie |
| CWC27CWC27 spliceosome associated cyclophilin | Czasami (5–29%) | W 2 chorobach |
| DBR1debranching RNA lariats 1 | Czasami (5–29%) | W 1 chorobie |
| DLK1delta like non-canonical Notch ligand 1 | Czasami (5–29%) | W 2 chorobach |
| DLL4delta like canonical Notch ligand 4 | Czasami (5–29%) | W 1 chorobie |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Czasami (5–29%) | W 1 chorobie |
| DPF2double PHD fingers 2 | Czasami (5–29%) | W 2 chorobach |
| DVL1dishevelled segment polarity protein 1 | Czasami (5–29%) | W 1 chorobie |
| EFTUD2elongation factor Tu GTP binding domain containing 2 | Czasami (5–29%) | W 1 chorobie |
| EHMT1euchromatic histone lysine methyltransferase 1 | Czasami (5–29%) | W 1 chorobie |
| EIF4Heukaryotic translation initiation factor 4H | Czasami (5–29%) | W 1 chorobie |
| EOGTEGF domain specific O-linked N-acetylglucosamine transferase | Czasami (5–29%) | W 1 chorobie |
| EP300EP300 lysine acetyltransferase | Czasami (5–29%) | W 2 chorobach |
| ERBB3erb-b2 receptor tyrosine kinase 3 | Czasami (5–29%) | W 1 chorobie |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Czasami (5–29%) | W 1 chorobie |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Czasami (5–29%) | W 1 chorobie |
| FADDFas associated via death domain | Czasami (5–29%) | W 2 chorobach |
| FANCBFA complementation group B | Czasami (5–29%) | W 1 chorobie |
| FBN1fibrillin 1 | Czasami (5–29%) | W 2 chorobach |
| FBXO22F-box protein 22 | Czasami (5–29%) | W 1 chorobie |
| FEM1Bfem-1 homolog B | Czasami (5–29%) | W 1 chorobie |
| FILIP1filamin A interacting protein 1 | Czasami (5–29%) | W 1 chorobie |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Czasami (5–29%) | W 1 chorobie |
| FOCADfocadhesin | Czasami (5–29%) | W 1 chorobie |
| FOXC2forkhead box C2 | Czasami (5–29%) | W 1 chorobie |
| FOXF1forkhead box F1 | Czasami (5–29%) | W 2 chorobach |
| FRA10AC1FRA10A associated CGG repeat 1 | Czasami (5–29%) | W 1 chorobie |
| FRYLFRY like transcription coactivator | Czasami (5–29%) | W 1 chorobie |
| GATA1GATA binding protein 1 | Czasami (5–29%) | W 1 chorobie |
| GDF3growth differentiation factor 3 | Czasami (5–29%) | W 1 chorobie |
| GDF6growth differentiation factor 6 | Czasami (5–29%) | W 1 chorobie |
| GJA1gap junction protein alpha 1 | Czasami (5–29%) | W 1 chorobie |
| GLI3GLI family zinc finger 3 | Czasami (5–29%) | W 2 chorobach |
| GNB2G protein subunit beta 2 | Czasami (5–29%) | W 1 chorobie |
| GTF2E2general transcription factor IIE subunit 2 | Czasami (5–29%) | W 1 chorobie |
| GTF2H5general transcription factor IIH subunit 5 | Czasami (5–29%) | W 1 chorobie |
| GTF2Igeneral transcription factor IIi | Czasami (5–29%) | W 1 chorobie |
| GTF2IRD1GTF2I repeat domain containing 1 | Czasami (5–29%) | W 1 chorobie |
| GTF2IRD2GTF2I repeat domain containing 2 | Czasami (5–29%) | W 1 chorobie |
| HDAC8histone deacetylase 8 | Czasami (5–29%) | W 1 chorobie |
| HEATR3HEAT repeat containing 3 | Czasami (5–29%) | W 1 chorobie |
| HNRNPRheterogeneous nuclear ribonucleoprotein R | Czasami (5–29%) | W 1 chorobie |
| HOXA13homeobox A13 | Czasami (5–29%) | W 1 chorobie |
| IFT172intraflagellar transport 172 | Czasami (5–29%) | W 1 chorobie |
| IFT27intraflagellar transport 27 | Czasami (5–29%) | W 1 chorobie |
| IFT56intraflagellar transport 56 | Czasami (5–29%) | W 1 chorobie |
| INSRinsulin receptor | Czasami (5–29%) | W 1 chorobie |
| JAG1jagged canonical Notch ligand 1 | Czasami (5–29%) | W 2 chorobach |
| JAM3junctional adhesion molecule 3 | Czasami (5–29%) | W 1 chorobie |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Czasami (5–29%) | W 1 chorobie |
| KAT8lysine acetyltransferase 8 | Czasami (5–29%) | W 1 chorobie |
| KDM2Blysine demethylase 2B | Czasami (5–29%) | W 1 chorobie |
| KDM3Blysine demethylase 3B | Czasami (5–29%) | W 1 chorobie |
| KDM5Alysine demethylase 5A | Czasami (5–29%) | W 1 chorobie |
| KDM6Alysine demethylase 6A | Czasami (5–29%) | W 1 chorobie |
| KIFBPkinesin family binding protein | Czasami (5–29%) | W 1 chorobie |
| KLHL41kelch like family member 41 | Czasami (5–29%) | W 1 chorobie |
| KMT2Dlysine methyltransferase 2D | Czasami (5–29%) | W 1 chorobie |
| KRASKRas proto-oncogene, GTPase | Czasami (5–29%) | W 1 chorobie |
| LBRlamin B receptor | Czasami (5–29%) | W 1 chorobie |
| LIMK1LIM domain kinase 1 | Czasami (5–29%) | W 1 chorobie |
| LONP1lon peptidase 1, mitochondrial | Czasami (5–29%) | W 3 chorobach |
| LRP2LDL receptor related protein 2 | Czasami (5–29%) | W 2 chorobach |
| LTBP2latent transforming growth factor beta binding protein 2 | Czasami (5–29%) | W 1 chorobie |
| LZTR1leucine zipper like post translational regulator 1 | Czasami (5–29%) | W 2 chorobach |
| MACF1microtubule actin crosslinking factor 1 | Czasami (5–29%) | W 1 chorobie |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Czasami (5–29%) | W 1 chorobie |
| MAPK1mitogen-activated protein kinase 1 | Czasami (5–29%) | W 1 chorobie |
| MAU2MAU2 sister chromatid cohesion factor | Czasami (5–29%) | W 1 chorobie |
| MED12mediator complex subunit 12 | Czasami (5–29%) | W 3 chorobach |
| MED13Lmediator complex subunit 13L | Czasami (5–29%) | W 1 chorobie |
| MED16mediator complex subunit 16 | Czasami (5–29%) | W 1 chorobie |
| MED25mediator complex subunit 25 | Czasami (5–29%) | W 2 chorobach |
| MEG3maternally expressed 3 | Czasami (5–29%) | W 2 chorobach |
| MEIS2Meis homeobox 2 | Czasami (5–29%) | W 2 chorobach |
| MEOX1mesenchyme homeobox 1 | Czasami (5–29%) | W 2 chorobach |
| METTL27methyltransferase like 27 | Czasami (5–29%) | W 1 chorobie |
| MICU1mitochondrial calcium uptake 1 | Czasami (5–29%) | W 1 chorobie |
| MID1midline 1 | Czasami (5–29%) | W 2 chorobach |
| MIR17HGmiR-17-92a-1 cluster host gene | Czasami (5–29%) | W 1 chorobie |
| MKKSMKKS centrosomal shuttling protein | Czasami (5–29%) | W 1 chorobie |
| MLXIPLMLX interacting protein like | Czasami (5–29%) | W 1 chorobie |
| MMP14matrix metallopeptidase 14 | Czasami (5–29%) | W 1 chorobie |
| MMP2matrix metallopeptidase 2 | Czasami (5–29%) | W 1 chorobie |
| MPLKIPM-phase specific PLK1 interacting protein | Czasami (5–29%) | W 2 chorobach |
| MTFMTmitochondrial methionyl-tRNA formyltransferase | Czasami (5–29%) | W 1 chorobie |
| MYH3myosin heavy chain 3 | Czasami (5–29%) | W 1 chorobie |
| MYOCDmyocardin | Czasami (5–29%) | W 1 chorobie |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Czasami (5–29%) | W 2 chorobach |
| NAE1NEDD8 activating enzyme E1 subunit 1 | Czasami (5–29%) | W 1 chorobie |
| NAV3neuron navigator 3 | Czasami (5–29%) | W 1 chorobie |
| NCF1neutrophil cytosolic factor 1 | Czasami (5–29%) | W 1 chorobie |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Czasami (5–29%) | W 1 chorobie |
| NEK1NIMA related kinase 1 | Czasami (5–29%) | W 1 chorobie |
| NFIXnuclear factor I X | Czasami (5–29%) | W 2 chorobach |
| NIPBLNIPBL cohesin loading factor | Czasami (5–29%) | W 2 chorobach |
| NKAPNFKB activating protein | Czasami (5–29%) | W 1 chorobie |
| NKX2-1NK2 homeobox 1 | Czasami (5–29%) | W 2 chorobach |
| NONOnon-POU domain containing octamer binding | Czasami (5–29%) | W 2 chorobach |
| NOTCH1notch receptor 1 | Czasami (5–29%) | W 1 chorobie |
| NOTCH2notch receptor 2 | Czasami (5–29%) | W 2 chorobach |
| NXNnucleoredoxin | Czasami (5–29%) | W 1 chorobie |
| ODAD1outer dynein arm docking complex subunit 1 | Czasami (5–29%) | W 1 chorobie |
| ODAD3outer dynein arm docking complex subunit 3 | Czasami (5–29%) | W 1 chorobie |
| PACS1phosphofurin acidic cluster sorting protein 1 | Czasami (5–29%) | W 1 chorobie |
| PACS2phosphofurin acidic cluster sorting protein 2 | Czasami (5–29%) | W 1 chorobie |
| PAHphenylalanine hydroxylase | Czasami (5–29%) | W 1 chorobie |
| PALB2partner and localizer of BRCA2 | Czasami (5–29%) | W 1 chorobie |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Czasami (5–29%) | W 1 chorobie |
| PEX1peroxisomal biogenesis factor 1 | Czasami (5–29%) | W 2 chorobach |
| PEX10peroxisomal biogenesis factor 10 | Czasami (5–29%) | W 1 chorobie |
| PEX11Bperoxisomal biogenesis factor 11 beta | Czasami (5–29%) | W 1 chorobie |
| PEX12peroxisomal biogenesis factor 12 | Czasami (5–29%) | W 1 chorobie |
| PEX13peroxisomal biogenesis factor 13 | Czasami (5–29%) | W 1 chorobie |
| PEX14peroxisomal biogenesis factor 14 | Czasami (5–29%) | W 1 chorobie |
| PEX16peroxisomal biogenesis factor 16 | Czasami (5–29%) | W 2 chorobach |
| PEX19peroxisomal biogenesis factor 19 | Czasami (5–29%) | W 1 chorobie |
| PEX2peroxisomal biogenesis factor 2 | Czasami (5–29%) | W 2 chorobach |
| PEX26peroxisomal biogenesis factor 26 | Czasami (5–29%) | W 1 chorobie |
| PEX3peroxisomal biogenesis factor 3 | Czasami (5–29%) | W 1 chorobie |
| PEX5peroxisomal biogenesis factor 5 | Czasami (5–29%) | W 1 chorobie |
| PEX6peroxisomal biogenesis factor 6 | Czasami (5–29%) | W 1 chorobie |
| PGM1phosphoglucomutase 1 | Czasami (5–29%) | W 1 chorobie |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Czasami (5–29%) | W 1 chorobie |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Czasami (5–29%) | W 2 chorobach |
| POLA1DNA polymerase alpha 1, catalytic subunit | Czasami (5–29%) | W 1 chorobie |
| POLR1ARNA polymerase I subunit A | Czasami (5–29%) | W 1 chorobie |
| PPFIBP1PPFIB scaffold protein 1 | Czasami (5–29%) | W 1 chorobie |
| PPM1Dprotein phosphatase, Mg2+/Mn2+ dependent 1D | Czasami (5–29%) | W 1 chorobie |
| PPP1R13Lprotein phosphatase 1 regulatory subunit 13 like | Czasami (5–29%) | W 1 chorobie |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Czasami (5–29%) | W 1 chorobie |
| PRDM13PR/SET domain 13 | Czasami (5–29%) | W 1 chorobie |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Czasami (5–29%) | W 1 chorobie |
| RAB34RAB34, member RAS oncogene family | Czasami (5–29%) | W 1 chorobie |
| RAC1Rac family small GTPase 1 | Czasami (5–29%) | W 2 chorobach |
| RAD21RAD21 cohesin complex component | Czasami (5–29%) | W 1 chorobie |
| RAI1retinoic acid induced 1 | Czasami (5–29%) | W 1 chorobie |
| RAP1BRAP1B, member of RAS oncogene family | Czasami (5–29%) | W 1 chorobie |
| RBM8ARNA binding motif protein 8A | Czasami (5–29%) | W 1 chorobie |
| RBMXRNA binding motif protein X-linked | Czasami (5–29%) | W 1 chorobie |
| RFC2replication factor C subunit 2 | Czasami (5–29%) | W 1 chorobie |
| RFX7regulatory factor X7 | Czasami (5–29%) | W 1 chorobie |
| RNF113Aring finger protein 113A | Czasami (5–29%) | W 1 chorobie |
| RNU4-2RNA, U4 small nuclear 2 | Czasami (5–29%) | W 1 chorobie |
| RNU4ATACRNA, U4atac small nuclear | Czasami (5–29%) | W 2 chorobach |
| ROR2ROR family WNT receptor 2 | Czasami (5–29%) | W 2 chorobach |
| RPL11ribosomal protein L11 | Czasami (5–29%) | W 2 chorobach |
| RPL18ribosomal protein L18 | Czasami (5–29%) | W 1 chorobie |
| RPL26ribosomal protein L26 | Czasami (5–29%) | W 1 chorobie |
| RPL27ribosomal protein L27 | Czasami (5–29%) | W 1 chorobie |
| RPL31ribosomal protein L31 | Czasami (5–29%) | W 1 chorobie |
| RPL35ribosomal protein L35 | Czasami (5–29%) | W 1 chorobie |
| RPL35Aribosomal protein L35a | Czasami (5–29%) | W 2 chorobach |
| RPL5ribosomal protein L5 | Czasami (5–29%) | W 2 chorobach |
| RPL8ribosomal protein L8 | Czasami (5–29%) | W 1 chorobie |
| RPL9ribosomal protein L9 | Czasami (5–29%) | W 1 chorobie |
| RPS10ribosomal protein S10 | Czasami (5–29%) | W 1 chorobie |
| RPS15Aribosomal protein S15a | Czasami (5–29%) | W 1 chorobie |
| RPS17ribosomal protein S17 | Czasami (5–29%) | W 1 chorobie |
| RPS19ribosomal protein S19 | Czasami (5–29%) | W 2 chorobach |
| RPS20ribosomal protein S20 | Czasami (5–29%) | W 1 chorobie |
| RPS24ribosomal protein S24 | Czasami (5–29%) | W 1 chorobie |
| RPS27ribosomal protein S27 | Czasami (5–29%) | W 1 chorobie |
| RPS28ribosomal protein S28 | Czasami (5–29%) | W 1 chorobie |
| RPS29ribosomal protein S29 | Czasami (5–29%) | W 1 chorobie |
| RPS7ribosomal protein S7 | Czasami (5–29%) | W 1 chorobie |
| RTL1retrotransposon Gag like 1 | Czasami (5–29%) | W 2 chorobach |
| SALL1spalt like transcription factor 1 | Czasami (5–29%) | W 1 chorobie |
| SATB1SATB homeobox 1 | Czasami (5–29%) | W 1 chorobie |
| SATB2SATB homeobox 2 | Czasami (5–29%) | W 1 chorobie |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Czasami (5–29%) | W 1 chorobie |
| SF3B2splicing factor 3b subunit 2 | Czasami (5–29%) | W 1 chorobie |
| SF3B4splicing factor 3b subunit 4 | Czasami (5–29%) | W 1 chorobie |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Czasami (5–29%) | W 1 chorobie |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Czasami (5–29%) | W 1 chorobie |
| SKIC3SKI3 subunit of superkiller complex | Czasami (5–29%) | W 2 chorobach |
| SLC12A2solute carrier family 12 member 2 | Czasami (5–29%) | W 1 chorobie |
| SLC19A2solute carrier family 19 member 2 | Czasami (5–29%) | W 2 chorobach |
| SLC37A4solute carrier family 37 member 4 | Czasami (5–29%) | W 1 chorobie |
| SLC6A1solute carrier family 6 member 1 | Czasami (5–29%) | W 1 chorobie |
| SLC6A11solute carrier family 6 member 11 | Czasami (5–29%) | W 1 chorobie |
| SLF2SMC5/6 complex localization factor 2 | Czasami (5–29%) | W 1 chorobie |
| SMAD4SMAD family member 4 | Czasami (5–29%) | W 1 chorobie |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Czasami (5–29%) | W 2 chorobach |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Czasami (5–29%) | W 1 chorobie |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Czasami (5–29%) | W 1 chorobie |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Czasami (5–29%) | W 1 chorobie |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Czasami (5–29%) | W 1 chorobie |
| SMC1Astructural maintenance of chromosomes 1A | Czasami (5–29%) | W 2 chorobach |
| SMC3structural maintenance of chromosomes 3 | Czasami (5–29%) | W 2 chorobach |
| SNRPBsmall nuclear ribonucleoprotein polypeptides B and B1 | Czasami (5–29%) | W 2 chorobach |
| SONSON DNA and RNA binding protein | Czasami (5–29%) | W 1 chorobie |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Czasami (5–29%) | W 1 chorobie |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Czasami (5–29%) | W 1 chorobie |
| SOX11SRY-box transcription factor 11 | Czasami (5–29%) | W 1 chorobie |
| SOX17SRY-box transcription factor 17 | Czasami (5–29%) | W 1 chorobie |
| SOX2SRY-box transcription factor 2 | Czasami (5–29%) | W 2 chorobach |
| SOX4SRY-box transcription factor 4 | Czasami (5–29%) | W 2 chorobach |
| SPENspen family transcriptional repressor | Czasami (5–29%) | W 1 chorobie |
| STAG1STAG1 cohesin complex component | Czasami (5–29%) | W 1 chorobie |
| STAG2STAG2 cohesin complex component | Czasami (5–29%) | W 1 chorobie |
| STX1Asyntaxin 1A | Czasami (5–29%) | W 1 chorobie |
| TAOK1TAO kinase 1 | Czasami (5–29%) | W 1 chorobie |
| TARS1threonyl-tRNA synthetase 1 | Czasami (5–29%) | W 1 chorobie |
| TBC1D24TBC1 domain family member 24 | Czasami (5–29%) | W 1 chorobie |
| TBCKTBC1 domain containing kinase | Czasami (5–29%) | W 1 chorobie |
| TBL2transducin beta like 2 | Czasami (5–29%) | W 1 chorobie |
| TBX3T-box transcription factor 3 | Czasami (5–29%) | W 2 chorobach |
| TCTN3tectonic family member 3 | Czasami (5–29%) | W 1 chorobie |
| TET3tet methylcytosine dioxygenase 3 | Czasami (5–29%) | W 1 chorobie |
| TFAP2Btranscription factor AP-2 beta | Czasami (5–29%) | W 1 chorobie |
| TIAM1TIAM Rac1 associated GEF 1 | Czasami (5–29%) | W 1 chorobie |
| TMEM237transmembrane protein 237 | Czasami (5–29%) | W 1 chorobie |
| TMEM270transmembrane protein 270 | Czasami (5–29%) | W 1 chorobie |
| TMEM53transmembrane protein 53 | Czasami (5–29%) | W 1 chorobie |
| TRAF7TNF receptor associated factor 7 | Czasami (5–29%) | W 1 chorobie |
| TRIOtrio Rho guanine nucleotide exchange factor | Czasami (5–29%) | W 1 chorobie |
| TRRAPtransformation/transcription domain associated protein | Czasami (5–29%) | W 1 chorobie |
| TSHZ3teashirt zinc finger homeobox 3 | Czasami (5–29%) | W 1 chorobie |
| TSR2TSR2 ribosome maturation factor | Czasami (5–29%) | W 1 chorobie |
| TTC7Atetratricopeptide repeat domain 7A | Czasami (5–29%) | W 2 chorobach |
| UBR7ubiquitin protein ligase E3 component n-recognin 7 | Czasami (5–29%) | W 1 chorobie |
| UMPSuridine monophosphate synthetase | Czasami (5–29%) | W 1 chorobie |
| VPS13Bvacuolar protein sorting 13 homolog B | Czasami (5–29%) | W 1 chorobie |
| VPS37DVPS37D subunit of ESCRT-I | Czasami (5–29%) | W 1 chorobie |
| WACWW domain containing adaptor with coiled-coil | Czasami (5–29%) | W 1 chorobie |
| WBP4WW domain binding protein 4 | Czasami (5–29%) | W 1 chorobie |
| WDR26WD repeat domain 26 | Czasami (5–29%) | W 2 chorobach |
| WSB2WD repeat and SOCS box containing 2 | Czasami (5–29%) | W 1 chorobie |
| WT1WT1 transcription factor | Czasami (5–29%) | W 2 chorobach |
| YARS1tyrosyl-tRNA synthetase 1 | Czasami (5–29%) | W 1 chorobie |
| YY1AP1YY1 associated protein 1 | Czasami (5–29%) | W 1 chorobie |
| ZBTB7Azinc finger and BTB domain containing 7A | Czasami (5–29%) | W 1 chorobie |
| ZFXzinc finger protein X-linked | Czasami (5–29%) | W 1 chorobie |
| ZMYM2zinc finger MYM-type containing 2 | Czasami (5–29%) | W 1 chorobie |
| ZNF462zinc finger protein 462 | Czasami (5–29%) | W 1 chorobie |
| ZNF699zinc finger protein 699 | Czasami (5–29%) | W 1 chorobie |
| ZRSR2zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 | Czasami (5–29%) | W 1 chorobie |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Rzadko (1–4%) | W 1 chorobie |
| ARSLarylsulfatase L | Rzadko (1–4%) | W 1 chorobie |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Rzadko (1–4%) | W 1 chorobie |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Rzadko (1–4%) | W 1 chorobie |
| CASKcalcium/calmodulin dependent serine protein kinase | Rzadko (1–4%) | W 1 chorobie |
| CDKL5cyclin dependent kinase like 5 | Rzadko (1–4%) | W 1 chorobie |
| DMXL2Dmx like 2 | Rzadko (1–4%) | W 1 chorobie |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Rzadko (1–4%) | W 2 chorobach |
| GGCXgamma-glutamyl carboxylase | Rzadko (1–4%) | W 1 chorobie |
| GNAO1G protein subunit alpha o1 | Rzadko (1–4%) | W 1 chorobie |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Rzadko (1–4%) | W 1 chorobie |
| GRM7glutamate metabotropic receptor 7 | Rzadko (1–4%) | W 1 chorobie |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Rzadko (1–4%) | W 1 chorobie |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Rzadko (1–4%) | W 1 chorobie |
| KDM6Blysine demethylase 6B | Rzadko (1–4%) | W 1 chorobie |
| LGI1leucine rich glioma inactivated 1 | Rzadko (1–4%) | W 1 chorobie |
| MAP2K1mitogen-activated protein kinase kinase 1 | Rzadko (1–4%) | W 2 chorobach |
| MT-CYBmitochondrially encoded cytochrome b | Rzadko (1–4%) | W 1 chorobie |
| NEUROD2neuronal differentiation 2 | Rzadko (1–4%) | W 1 chorobie |
| NF1neurofibromin 1 | Rzadko (1–4%) | W 2 chorobach |
| NIPA1NIPA magnesium transporter 1 | Rzadko (1–4%) | W 1 chorobie |
| NIPA2NIPA magnesium transporter 2 | Rzadko (1–4%) | W 1 chorobie |
| NUP107nucleoporin 107 | Rzadko (1–4%) | W 2 chorobach |
| PI4KAphosphatidylinositol 4-kinase alpha | Rzadko (1–4%) | W 1 chorobie |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Rzadko (1–4%) | W 1 chorobie |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Rzadko (1–4%) | W 1 chorobie |
| PNKPpolynucleotide kinase 3'-phosphatase | Rzadko (1–4%) | W 1 chorobie |
| PORCNporcupine O-acyltransferase | Rzadko (1–4%) | W 1 chorobie |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Rzadko (1–4%) | W 1 chorobie |
| RHOBTB2Rho related BTB domain containing 2 | Rzadko (1–4%) | W 1 chorobie |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Rzadko (1–4%) | W 1 chorobie |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Rzadko (1–4%) | W 1 chorobie |
| SIK1salt inducible kinase 1 | Rzadko (1–4%) | W 1 chorobie |
| SKIC2SKI2 subunit of superkiller complex | Rzadko (1–4%) | W 1 chorobie |
| SLC25A22solute carrier family 25 member 22 | Rzadko (1–4%) | W 1 chorobie |
| SLC32A1solute carrier family 32 member 1 | Rzadko (1–4%) | W 1 chorobie |
| SPTBN1spectrin beta, non-erythrocytic 1 | Rzadko (1–4%) | W 1 chorobie |
| TGFB3transforming growth factor beta 3 | Rzadko (1–4%) | W 1 chorobie |
| TRIM8tripartite motif containing 8 | Rzadko (1–4%) | W 1 chorobie |
| TUBG1tubulin gamma 1 | Rzadko (1–4%) | W 1 chorobie |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Rzadko (1–4%) | W 1 chorobie |
| VKORC1vitamin K epoxide reductase complex subunit 1 | Rzadko (1–4%) | W 1 chorobie |
| VPS33BVPS33B late endosome and lysosome associated | Rzadko (1–4%) | W 1 chorobie |
| ZEB2zinc finger E-box binding homeobox 2 | Rzadko (1–4%) | W 2 chorobach |
| AMER1APC membrane recruitment protein 1 | Nie odnotowano | W 1 chorobie |
| ARHGAP31Rho GTPase activating protein 31 | Nie odnotowano | W 1 chorobie |
| ASXL1ASXL transcriptional regulator 1 | Nie odnotowano | W 1 chorobie |
| ATRXATRX chromatin remodeler | Nie odnotowano | W 1 chorobie |
| B3GALT6beta-1,3-galactosyltransferase 6 | Nie odnotowano | W 1 chorobie |
| B3GLCTbeta 3-glucosyltransferase | Nie odnotowano | W 1 chorobie |
| CCDC174coiled-coil domain containing 174 | Nie odnotowano | W 1 chorobie |
| CD96CD96 molecule | Nie odnotowano | W 1 chorobie |
| CEP290centrosomal protein 290 | Nie odnotowano | W 1 chorobie |
| CHST3carbohydrate sulfotransferase 3 | Nie odnotowano | W 1 chorobie |
| COX7Bcytochrome c oxidase subunit 7B | Nie odnotowano | W 1 chorobie |
| CPLX1complexin 1 | Nie odnotowano | W 1 chorobie |
| CTBP1C-terminal binding protein 1 | Nie odnotowano | W 1 chorobie |
| DGCR2DiGeorge syndrome critical region gene 2 | Nie odnotowano | W 1 chorobie |
| DGCR6DiGeorge syndrome critical region gene 6 | Nie odnotowano | W 1 chorobie |
| DGCR8DGCR8 microprocessor complex subunit | Nie odnotowano | W 1 chorobie |
| DYNC2I1dynein 2 intermediate chain 1 | Nie odnotowano | W 1 chorobie |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Nie odnotowano | W 1 chorobie |
| ESS2ess-2 spliceosome associated protein | Nie odnotowano | W 1 chorobie |
| FBN2fibrillin 2 | Nie odnotowano | W 1 chorobie |
| FGFR1fibroblast growth factor receptor 1 | Nie odnotowano | W 1 chorobie |
| FGFR2fibroblast growth factor receptor 2 | Nie odnotowano | W 1 chorobie |
| FGFRL1fibroblast growth factor receptor like 1 | Nie odnotowano | W 1 chorobie |
| FLNBfilamin B | Nie odnotowano | W 1 chorobie |
| GDF1growth differentiation factor 1 | Nie odnotowano | W 2 chorobach |
| GPC6glypican 6 | Nie odnotowano | W 1 chorobie |
| HCCSholocytochrome c synthase | Nie odnotowano | W 1 chorobie |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Nie odnotowano | W 1 chorobie |
| IGF1Rinsulin like growth factor 1 receptor | Nie odnotowano | W 1 chorobie |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Nie odnotowano | W 1 chorobie |
| LRP5LDL receptor related protein 5 | Nie odnotowano | W 1 chorobie |
| MASP1MBL associated serine protease 1 | Nie odnotowano | W 1 chorobie |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Nie odnotowano | W 1 chorobie |
| NSD2nuclear receptor binding SET domain protein 2 | Nie odnotowano | W 1 chorobie |
| PHGDHphosphoglycerate dehydrogenase | Nie odnotowano | W 1 chorobie |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Nie odnotowano | W 1 chorobie |
| PQBP1polyglutamine binding protein 1 | Nie odnotowano | W 1 chorobie |
| RAB23RAB23, member RAS oncogene family | Nie odnotowano | W 1 chorobie |
| RARBretinoic acid receptor beta | Nie odnotowano | W 1 chorobie |
| RSPO2R-spondin 2 | Nie odnotowano | W 1 chorobie |
| SALL4spalt like transcription factor 4 | Nie odnotowano | W 1 chorobie |
| SIX6SIX homeobox 6 | Nie odnotowano | W 1 chorobie |
| SMN1survival of motor neuron 1, telomeric | Nie odnotowano | W 1 chorobie |
| STAMBPSTAM binding protein | Nie odnotowano | W 1 chorobie |
| TAB2TGF-beta activated kinase 1 (MAP3K7) binding protein 2 | Nie odnotowano | W 1 chorobie |
| TALDO1transaldolase 1 | Nie odnotowano | W 1 chorobie |
| TAPT1transmembrane anterior posterior transformation 1 | Nie odnotowano | W 1 chorobie |
| TP63tumor protein p63 | Nie odnotowano | W 1 chorobie |
| TRAIPTRAF interacting protein | Nie odnotowano | W 1 chorobie |
| TXNL4Athioredoxin like 4A | Nie odnotowano | W 1 chorobie |
| UBE3Bubiquitin protein ligase E3B | Nie odnotowano | W 1 chorobie |
| UBR1ubiquitin protein ligase E3 component n-recognin 1 | Nie odnotowano | W 1 chorobie |
| VIPAS39VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog | Nie odnotowano | W 1 chorobie |
Jak często występuje wśród osób z jedną z chorób związanych z tym genem, najczęściej spośród wszystkich, według danych Human Phenotype Ontology. Te strony opisują cechy i badania, na których się opierają; nie są diagnozą, a w sprawie objawów należy zwrócić się do lekarza lub doradcy genetycznego.
Cechy podrzędne
Cechy nadrzędne
Skąd pochodzą te dane
- Human Phenotype Ontology, wydanie 2026-09-01: cecha, jej nazwy, definicja oraz geny z nią powiązane. Więcej informacji znajdą Państwo na stronie hpo.jax.org.
- Wydanie danych 2026.10.16-c6eea6bf.
Jeden test. Odpowiedzi na całe życie.
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