Cecha
Cleft palate
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
Podsumowanie
- Znana także jako
- Cleft roof of mouth, Cleft hard and soft palate, Cleft of hard and soft palate, Cleft of palate, Palatoschisis, Uranostaphyloschisis
- Układ organizmu
- Abnormality of head or neck
Genom referencyjnyGRCh38hg38
Pozycje na stronach genów i wariantów zależą od tego wyboru, w tej przeglądarce.
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Zamawiam Genome Test570 genów powiązanych z Cleft palate
Zmiany w tych genach powodują rzadkie choroby, w których występuje Cleft palate. 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 |
|---|---|---|
| ACBD5acyl-CoA binding domain containing 5 | Zawsze | W 1 chorobie |
| ACTBactin beta | Zawsze | W 1 chorobie |
| BPNT23'(2'), 5'-bisphosphate nucleotidase 2 | Zawsze | W 1 chorobie |
| CCDC32coiled-coil domain containing 32 | Zawsze | W 1 chorobie |
| COL2A1collagen type II alpha 1 chain | Zawsze | W 11 chorobach |
| CREBBPCREB binding lysine acetyltransferase | Zawsze | W 3 chorobach |
| DLG5discs large MAGUK scaffold protein 5 | Zawsze | W 1 chorobie |
| DMRT2doublesex and mab-3 related transcription factor 2 | Zawsze | W 1 chorobie |
| EP300EP300 lysine acetyltransferase | Zawsze | W 1 chorobie |
| FLNAfilamin A | Zawsze | W 7 chorobach |
| FLVCR1FLVCR choline and heme transporter 1 | Zawsze | W 1 chorobie |
| FOXE1forkhead box E1 | Zawsze | W 2 chorobach |
| GPC3glypican 3 | Zawsze | W 2 chorobach |
| IKZF2IKAROS family zinc finger 2 | Zawsze | W 1 chorobie |
| IRF6interferon regulatory factor 6 | Zawsze | W 6 chorobach |
| JPH1junctophilin 1 | Zawsze | W 1 chorobie |
| KCNK3potassium two pore domain channel subfamily K member 3 | Zawsze | W 1 chorobie |
| KIF15kinesin family member 15 | Zawsze | W 1 chorobie |
| LRRC32leucine rich repeat containing 32 | Zawsze | W 1 chorobie |
| MEIS2Meis homeobox 2 | Zawsze | W 2 chorobach |
| MYOD1myogenic differentiation 1 | Zawsze | W 2 chorobach |
| OTX2orthodenticle homeobox 2 | Zawsze | W 2 chorobach |
| PEX1peroxisomal biogenesis factor 1 | Zawsze | W 1 chorobie |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Zawsze | W 4 chorobach |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Zawsze | W 1 chorobie |
| PRRX1paired related homeobox 1 | Zawsze | W 1 chorobie |
| PTBP1polypyrimidine tract binding protein 1 | Zawsze | W 1 chorobie |
| PUF60poly(U) binding splicing factor 60 | Zawsze | W 1 chorobie |
| RAB34RAB34, member RAS oncogene family | Zawsze | W 1 chorobie |
| RBM10RNA binding motif protein 10 | Zawsze | W 2 chorobach |
| RPGRIP1LRPGRIP1 like | Zawsze | W 3 chorobach |
| RPS28ribosomal protein S28 | Zawsze | W 1 chorobie |
| SATB2SATB homeobox 2 | Zawsze | W 4 chorobach |
| SNAPINSNAP associated protein | Zawsze | W 1 chorobie |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Zawsze | W 1 chorobie |
| TP63tumor protein p63 | Zawsze | W 8 chorobach |
| TSR2TSR2 ribosome maturation factor | Zawsze | W 1 chorobie |
| VAX1ventral anterior homeobox 1 | Zawsze | W 1 chorobie |
| ARVCFARVCF delta catenin family member | Bardzo często (80–99%) | W 1 chorobie |
| COL11A1collagen type XI alpha 1 chain | Bardzo często (80–99%) | W 7 chorobach |
Pokaż jeszcze 530 genów
| Gen | Jak często występuje | Choroby |
|---|---|---|
| COL11A2collagen type XI alpha 2 chain | Bardzo często (80–99%) | W 4 chorobach |
| COMTcatechol-O-methyltransferase | Bardzo często (80–99%) | W 1 chorobie |
| DHCR2424-dehydrocholesterol reductase | Bardzo często (80–99%) | W 2 chorobach |
| EFTUD2elongation factor Tu GTP binding domain containing 2 | Bardzo często (80–99%) | W 2 chorobach |
| FGFR1fibroblast growth factor receptor 1 | Bardzo często (80–99%) | W 9 chorobach |
| GJA1gap junction protein alpha 1 | Bardzo często (80–99%) | W 2 chorobach |
| GP1BBglycoprotein Ib platelet subunit beta | Bardzo często (80–99%) | W 1 chorobie |
| GRHL3grainyhead like transcription factor 3 | Bardzo często (80–99%) | W 2 chorobach |
| HIRAhistone cell cycle regulator | Bardzo często (80–99%) | W 1 chorobie |
| JMJD1Cjumonji domain containing 1C | Bardzo często (80–99%) | W 1 chorobie |
| KIFBPkinesin family binding protein | Bardzo często (80–99%) | W 1 chorobie |
| NEK1NIMA related kinase 1 | Bardzo często (80–99%) | W 3 chorobach |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Bardzo często (80–99%) | W 1 chorobie |
| PQBP1polyglutamine binding protein 1 | Bardzo często (80–99%) | W 2 chorobach |
| RIPK4receptor interacting serine/threonine kinase 4 | Bardzo często (80–99%) | W 3 chorobach |
| RREB1ras responsive element binding protein 1 | Bardzo często (80–99%) | W 1 chorobie |
| RSPO2R-spondin 2 | Bardzo często (80–99%) | W 1 chorobie |
| SEC24CSEC24 homolog C, COPII component | Bardzo często (80–99%) | W 1 chorobie |
| SNRPBsmall nuclear ribonucleoprotein polypeptides B and B1 | Bardzo często (80–99%) | W 2 chorobach |
| SOX9SRY-box transcription factor 9 | Bardzo często (80–99%) | W 3 chorobach |
| TBR1T-box brain transcription factor 1 | Bardzo często (80–99%) | W 1 chorobie |
| TBX1T-box transcription factor 1 | Bardzo często (80–99%) | W 4 chorobach |
| TBX22T-box transcription factor 22 | Bardzo często (80–99%) | W 3 chorobach |
| TGDSTDP-glucose 4,6-dehydratase | Bardzo często (80–99%) | W 2 chorobach |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Bardzo często (80–99%) | W 1 chorobie |
| ALX1ALX homeobox 1 | Często (30–79%) | W 2 chorobach |
| ALX3ALX homeobox 3 | Często (30–79%) | W 1 chorobie |
| AMER1APC membrane recruitment protein 1 | Często (30–79%) | W 2 chorobach |
| AMOTL1angiomotin like 1 | Często (30–79%) | W 1 chorobie |
| ANKRD11ankyrin repeat domain 11 | Często (30–79%) | W 1 chorobie |
| ARHGAP29Rho GTPase activating protein 29 | Często (30–79%) | W 1 chorobie |
| ARHGEF38Rho guanine nucleotide exchange factor 38 | Często (30–79%) | W 1 chorobie |
| ARID1BAT-rich interaction domain 1B | Często (30–79%) | W 2 chorobach |
| ARNT2aryl hydrocarbon receptor nuclear translocator 2 | Często (30–79%) | W 1 chorobie |
| B3GALT6beta-1,3-galactosyltransferase 6 | Często (30–79%) | W 2 chorobach |
| B3GLCTbeta 3-glucosyltransferase | Często (30–79%) | W 2 chorobach |
| B9D1B9 domain containing 1 | Często (30–79%) | W 1 chorobie |
| B9D2B9 domain containing 2 | Często (30–79%) | W 2 chorobach |
| BCORBCL6 corepressor | Często (30–79%) | W 1 chorobie |
| BMP4bone morphogenetic protein 4 | Często (30–79%) | W 4 chorobach |
| BRPF1bromodomain and PHD finger containing 1 | Często (30–79%) | W 1 chorobie |
| C2CD3C2 domain containing 3 centriole elongation regulator | Często (30–79%) | W 2 chorobach |
| CC2D2Acoiled-coil and C2 domain containing 2A | Często (30–79%) | W 2 chorobach |
| CCDC22CCC complex scaffolding subunit CCDC22 | Często (30–79%) | W 1 chorobie |
| CDH1cadherin 1 | Często (30–79%) | W 2 chorobach |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Często (30–79%) | W 1 chorobie |
| CDONcell adhesion associated, oncogene regulated | Często (30–79%) | W 6 chorobach |
| CEP290centrosomal protein 290 | Często (30–79%) | W 3 chorobach |
| CHD7chromodomain helicase DNA binding protein 7 | Często (30–79%) | W 5 chorobach |
| COBLL1cordon-bleu WH2 repeat protein like 1 | Często (30–79%) | W 1 chorobie |
| COG1component of oligomeric golgi complex 1 | Często (30–79%) | W 1 chorobie |
| COLEC10collectin subfamily member 10 | Często (30–79%) | W 1 chorobie |
| COLEC11collectin subfamily member 11 | Często (30–79%) | W 1 chorobie |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Często (30–79%) | W 2 chorobach |
| CPLX1complexin 1 | Często (30–79%) | W 3 chorobach |
| CRIPTOcripto, EGF-CFC family member | Często (30–79%) | W 5 chorobach |
| CSPP1centrosome and spindle pole associated protein 1 | Często (30–79%) | W 1 chorobie |
| CTNNB1catenin beta 1 | Często (30–79%) | W 1 chorobie |
| CYP26C1cytochrome P450 family 26 subfamily C member 1 | Często (30–79%) | W 1 chorobie |
| DDX3XDEAD-box helicase 3 X-linked | Często (30–79%) | W 2 chorobach |
| DDX59DEAD-box helicase 59 | Często (30–79%) | W 1 chorobie |
| DEF6DEF6 guanine nucleotide exchange factor | Często (30–79%) | W 1 chorobie |
| DHCR77-dehydrocholesterol reductase | Często (30–79%) | W 2 chorobach |
| DHODHdihydroorotate dehydrogenase (quinone) | Często (30–79%) | W 2 chorobach |
| DISP1dispatched RND transporter family member 1 | Często (30–79%) | W 5 chorobach |
| DLG1discs large MAGUK scaffold protein 1 | Często (30–79%) | W 1 chorobie |
| DLL1delta like canonical Notch ligand 1 | Często (30–79%) | W 5 chorobach |
| DLX4distal-less homeobox 4 | Często (30–79%) | W 1 chorobie |
| DLX5distal-less homeobox 5 | Często (30–79%) | W 1 chorobie |
| DOK7docking protein 7 | Często (30–79%) | W 1 chorobie |
| DPYSL5dihydropyrimidinase like 5 | Często (30–79%) | W 1 chorobie |
| DVL1dishevelled segment polarity protein 1 | Często (30–79%) | W 1 chorobie |
| DVL3dishevelled segment polarity protein 3 | Często (30–79%) | W 1 chorobie |
| EDN1endothelin 1 | Często (30–79%) | W 1 chorobie |
| EDNRAendothelin receptor type A | Często (30–79%) | W 1 chorobie |
| EIF4A3eukaryotic translation initiation factor 4A3 | Często (30–79%) | W 1 chorobie |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Często (30–79%) | W 2 chorobach |
| FAAP100FA core complex associated protein 100 | Często (30–79%) | W 2 chorobach |
| FAM149B1family with sequence similarity 149 member B1 | Często (30–79%) | W 1 chorobie |
| FANCLFA complementation group L | Często (30–79%) | W 2 chorobach |
| FGF8fibroblast growth factor 8 | Często (30–79%) | W 7 chorobach |
| FOXH1forkhead box H1 | Często (30–79%) | W 5 chorobach |
| FRAS1Fraser extracellular matrix complex subunit 1 | Często (30–79%) | W 1 chorobie |
| FTOFTO alpha-ketoglutarate dependent dioxygenase | Często (30–79%) | W 1 chorobie |
| FZD2frizzled class receptor 2 | Często (30–79%) | W 1 chorobie |
| GAD1glutamate decarboxylase 1 | Często (30–79%) | W 1 chorobie |
| GAS1growth arrest specific 1 | Często (30–79%) | W 5 chorobach |
| GLDNgliomedin | Często (30–79%) | W 1 chorobie |
| GLI2GLI family zinc finger 2 | Często (30–79%) | W 7 chorobach |
| GNAI3G protein subunit alpha i3 | Często (30–79%) | W 2 chorobach |
| GPC4glypican 4 | Często (30–79%) | W 1 chorobie |
| HESX1HESX homeobox 1 | Często (30–79%) | W 2 chorobach |
| HMGA2high mobility group AT-hook 2 | Często (30–79%) | W 1 chorobie |
| HOXA2homeobox A2 | Często (30–79%) | W 1 chorobie |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Często (30–79%) | W 2 chorobach |
| IGBP1immunoglobulin binding protein 1 | Często (30–79%) | W 1 chorobie |
| IGF2insulin like growth factor 2 | Często (30–79%) | W 1 chorobie |
| INTS1integrator complex subunit 1 | Często (30–79%) | W 1 chorobie |
| IPO8importin 8 | Często (30–79%) | W 1 chorobie |
| KAT6Blysine acetyltransferase 6B | Często (30–79%) | W 1 chorobie |
| KATNIPkatanin interacting protein | Często (30–79%) | W 1 chorobie |
| KDM6Alysine demethylase 6A | Często (30–79%) | W 3 chorobach |
| KIAA0753KIAA0753 | Często (30–79%) | W 1 chorobie |
| KIF21Akinesin family member 21A | Często (30–79%) | W 1 chorobie |
| KIF7kinesin family member 7 | Często (30–79%) | W 4 chorobach |
| KMT2Dlysine methyltransferase 2D | Często (30–79%) | W 2 chorobach |
| LRRC7leucine rich repeat containing 7 | Często (30–79%) | W 1 chorobie |
| MAFMAF bZIP transcription factor | Często (30–79%) | W 1 chorobie |
| MAGEL2MAGE family member L2 | Często (30–79%) | W 1 chorobie |
| MAN2B2mannosidase alpha class 2B member 2 | Często (30–79%) | W 1 chorobie |
| MAPRE2microtubule associated protein RP/EB family member 2 | Często (30–79%) | W 2 chorobach |
| MASP1MBL associated serine protease 1 | Często (30–79%) | W 1 chorobie |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Często (30–79%) | W 2 chorobach |
| MCTP2multiple C2 and transmembrane domain containing 2 | Często (30–79%) | W 1 chorobie |
| MECOMMDS1 and EVI1 complex locus | Często (30–79%) | W 1 chorobie |
| MED16mediator complex subunit 16 | Często (30–79%) | W 1 chorobie |
| MED25mediator complex subunit 25 | Często (30–79%) | W 2 chorobach |
| MEGF10multiple EGF like domains 10 | Często (30–79%) | W 2 chorobach |
| MID1midline 1 | Często (30–79%) | W 2 chorobach |
| MKS1MKS transition zone complex subunit 1 | Często (30–79%) | W 2 chorobach |
| MSX1msh homeobox 1 | Często (30–79%) | W 2 chorobach |
| MUSKmuscle associated receptor tyrosine kinase | Często (30–79%) | W 1 chorobie |
| MYMKmyomaker, myoblast fusion factor | Często (30–79%) | W 2 chorobach |
| MYMXmyomixer, myoblast fusion factor | Często (30–79%) | W 1 chorobie |
| NECTIN1nectin cell adhesion molecule 1 | Często (30–79%) | W 2 chorobach |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Często (30–79%) | W 1 chorobie |
| NODALnodal growth differentiation factor | Często (30–79%) | W 5 chorobach |
| NUP88nucleoporin 88 | Często (30–79%) | W 1 chorobie |
| OFD1OFD1 centriole and centriolar satellite protein | Często (30–79%) | W 3 chorobach |
| PDE6Dphosphodiesterase 6D | Często (30–79%) | W 1 chorobie |
| PDGFRAplatelet derived growth factor receptor alpha | Często (30–79%) | W 1 chorobie |
| PGAP2post-GPI attachment to proteins 2 | Często (30–79%) | W 1 chorobie |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Często (30–79%) | W 1 chorobie |
| PGM1phosphoglucomutase 1 | Często (30–79%) | W 1 chorobie |
| PHF8PHD finger protein 8 | Często (30–79%) | W 1 chorobie |
| PHGDHphosphoglycerate dehydrogenase | Często (30–79%) | W 1 chorobie |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Często (30–79%) | W 2 chorobach |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Często (30–79%) | W 2 chorobach |
| PLAG1PLAG1 zinc finger | Często (30–79%) | W 1 chorobie |
| PLCB4phospholipase C beta 4 | Często (30–79%) | W 2 chorobach |
| PLCH1phospholipase C eta 1 | Często (30–79%) | W 2 chorobach |
| POLR1ARNA polymerase I subunit A | Często (30–79%) | W 1 chorobie |
| POLR1BRNA polymerase I subunit B | Często (30–79%) | W 2 chorobach |
| POLR1CRNA polymerase I and III subunit C | Często (30–79%) | W 2 chorobach |
| POLR1DRNA polymerase I and III subunit D | Często (30–79%) | W 2 chorobach |
| POMT2protein O-mannosyltransferase 2 | Często (30–79%) | W 3 chorobach |
| PPP2R3Cprotein phosphatase 2 regulatory subunit B''gamma | Często (30–79%) | W 1 chorobie |
| PROKR2prokineticin receptor 2 | Często (30–79%) | W 4 chorobach |
| PTCH1patched 1 | Często (30–79%) | W 7 chorobach |
| RAPSNreceptor associated protein of the synapse | Często (30–79%) | W 2 chorobach |
| RECQL4RecQ like helicase 4 | Często (30–79%) | W 5 chorobach |
| RIC1RIC1 partner of RAB6A GEF complex | Często (30–79%) | W 2 chorobach |
| RNU4ATACRNA, U4atac small nuclear | Często (30–79%) | W 1 chorobie |
| RPGRIP1RPGR interacting protein 1 | Często (30–79%) | W 1 chorobie |
| RPL5ribosomal protein L5 | Często (30–79%) | W 1 chorobie |
| RPS26ribosomal protein S26 | Często (30–79%) | W 1 chorobie |
| SELENOIselenoprotein I | Często (30–79%) | W 2 chorobach |
| SETD5SET domain containing 5 | Często (30–79%) | W 1 chorobie |
| SF3B4splicing factor 3b subunit 4 | Często (30–79%) | W 2 chorobach |
| SHHsonic hedgehog signaling molecule | Często (30–79%) | W 6 chorobach |
| SIX3SIX homeobox 3 | Często (30–79%) | W 5 chorobach |
| SLC18A3solute carrier family 18 member A3 | Często (30–79%) | W 1 chorobie |
| SLC26A2solute carrier family 26 member 2 | Często (30–79%) | W 5 chorobach |
| SLC35B2solute carrier family 35 member B2 | Często (30–79%) | W 1 chorobie |
| SMAD2SMAD family member 2 | Często (30–79%) | W 1 chorobie |
| SMAD3SMAD family member 3 | Często (30–79%) | W 2 chorobach |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Często (30–79%) | W 1 chorobie |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Często (30–79%) | W 1 chorobie |
| SMC1Astructural maintenance of chromosomes 1A | Często (30–79%) | W 3 chorobach |
| SMSspermine synthase | Często (30–79%) | W 2 chorobach |
| SOX2SRY-box transcription factor 2 | Często (30–79%) | W 1 chorobie |
| SOX3SRY-box transcription factor 3 | Często (30–79%) | W 1 chorobie |
| STAC3SH3 and cysteine rich domain 3 | Często (30–79%) | W 2 chorobach |
| STAG2STAG2 cohesin complex component | Często (30–79%) | W 4 chorobach |
| STAT3signal transducer and activator of transcription 3 | Często (30–79%) | W 1 chorobie |
| STILSTIL centriolar assembly protein | Często (30–79%) | W 4 chorobach |
| TBX2T-box transcription factor 2 | Często (30–79%) | W 1 chorobie |
| TCTN1tectonic family member 1 | Często (30–79%) | W 1 chorobie |
| TCTN2tectonic family member 2 | Często (30–79%) | W 2 chorobach |
| TCTN3tectonic family member 3 | Często (30–79%) | W 5 chorobach |
| TGFB2transforming growth factor beta 2 | Często (30–79%) | W 1 chorobie |
| TGFB3transforming growth factor beta 3 | Często (30–79%) | W 2 chorobach |
| TGFBR1transforming growth factor beta receptor 1 | Często (30–79%) | W 2 chorobach |
| TGFBR2transforming growth factor beta receptor 2 | Często (30–79%) | W 2 chorobach |
| TGIF1TGFB induced factor homeobox 1 | Często (30–79%) | W 5 chorobach |
| TMEM107transmembrane protein 107 | Często (30–79%) | W 1 chorobie |
| TMEM216transmembrane protein 216 | Często (30–79%) | W 3 chorobach |
| TMEM231transmembrane protein 231 | Często (30–79%) | W 2 chorobach |
| TMEM237transmembrane protein 237 | Często (30–79%) | W 3 chorobach |
| TMEM67transmembrane protein 67 | Często (30–79%) | W 2 chorobach |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Często (30–79%) | W 1 chorobie |
| TUBA1Atubulin alpha 1a | Często (30–79%) | W 1 chorobie |
| TUBBtubulin beta class I | Często (30–79%) | W 2 chorobach |
| TXNDC15thioredoxin domain containing 15 | 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 |
| WNT3Wnt family member 3 | Często (30–79%) | W 1 chorobie |
| WNT4Wnt family member 4 | Często (30–79%) | W 2 chorobach |
| YAP1Yes1 associated transcriptional regulator | Często (30–79%) | W 1 chorobie |
| ZIC2Zic family zinc finger 2 | Często (30–79%) | W 5 chorobach |
| ZSCAN10zinc finger and SCAN domain containing 10 | Często (30–79%) | W 1 chorobie |
| ACTG2actin gamma 2, smooth muscle | Czasami (5–29%) | W 1 chorobie |
| AHDC1AT-hook DNA binding motif containing 1 | Czasami (5–29%) | W 1 chorobie |
| AHI1Abelson helper integration site 1 | Czasami (5–29%) | W 1 chorobie |
| ANOS1anosmin 1 | Czasami (5–29%) | W 1 chorobie |
| ARandrogen receptor | Czasami (5–29%) | W 1 chorobie |
| ARCN1archain 1 coat protein complex I subunit delta | Czasami (5–29%) | W 1 chorobie |
| ARID2AT-rich interaction domain 2 | Czasami (5–29%) | W 1 chorobie |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Czasami (5–29%) | W 1 chorobie |
| ASXL1ASXL transcriptional regulator 1 | Czasami (5–29%) | W 1 chorobie |
| ATN1atrophin 1 | Czasami (5–29%) | W 1 chorobie |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Czasami (5–29%) | W 2 chorobach |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Czasami (5–29%) | W 1 chorobie |
| B4GALT7beta-1,4-galactosyltransferase 7 | Czasami (5–29%) | W 1 chorobie |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Czasami (5–29%) | W 1 chorobie |
| BCRBCR activator of RhoGEF and GTPase | Czasami (5–29%) | W 1 chorobie |
| BMPERBMP binding endothelial regulator | Czasami (5–29%) | W 2 chorobach |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Czasami (5–29%) | W 1 chorobie |
| BRCA1BRCA1 DNA repair associated | Czasami (5–29%) | W 1 chorobie |
| BRCA2BRCA2 DNA repair associated | Czasami (5–29%) | W 1 chorobie |
| BRD4bromodomain containing 4 | Czasami (5–29%) | W 1 chorobie |
| BRIP1BRCA1 interacting DNA helicase 1 | Czasami (5–29%) | W 1 chorobie |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Czasami (5–29%) | W 1 chorobie |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Czasami (5–29%) | W 2 chorobach |
| BUB3BUB3 mitotic checkpoint protein | Czasami (5–29%) | W 1 chorobie |
| CCDC141coiled-coil domain containing 141 | Czasami (5–29%) | W 1 chorobie |
| CD96CD96 molecule | Czasami (5–29%) | W 1 chorobie |
| CDC45cell division cycle 45 | Czasami (5–29%) | W 2 chorobach |
| CDC6cell division cycle 6 | Czasami (5–29%) | W 1 chorobie |
| CDH11cadherin 11 | Czasami (5–29%) | W 1 chorobie |
| CDT1chromatin licensing and DNA replication factor 1 | Czasami (5–29%) | W 1 chorobie |
| CEP120centrosomal protein 120 | Czasami (5–29%) | W 2 chorobach |
| CEP152centrosomal protein 152 | Czasami (5–29%) | W 1 chorobie |
| CEP41centrosomal protein 41 | Czasami (5–29%) | W 1 chorobie |
| CEP57centrosomal protein 57 | Czasami (5–29%) | W 1 chorobie |
| CHN1chimerin 1 | Czasami (5–29%) | W 1 chorobie |
| CHRNGcholinergic receptor nicotinic gamma subunit | Czasami (5–29%) | W 3 chorobach |
| CHST14carbohydrate sulfotransferase 14 | Czasami (5–29%) | W 2 chorobach |
| CHSY1chondroitin sulfate synthase 1 | Czasami (5–29%) | W 1 chorobie |
| COL1A1collagen type I alpha 1 chain | Czasami (5–29%) | W 1 chorobie |
| COL1A2collagen type I alpha 2 chain | Czasami (5–29%) | W 1 chorobie |
| COL4A1collagen type IV alpha 1 chain | Czasami (5–29%) | W 1 chorobie |
| COX7Bcytochrome c oxidase subunit 7B | Czasami (5–29%) | W 1 chorobie |
| CRELD1CRELD disulfide isomerase 1 | Czasami (5–29%) | W 1 chorobie |
| CRKLCRK like proto-oncogene, adaptor protein | Czasami (5–29%) | W 1 chorobie |
| CRPPACDP-L-ribitol pyrophosphorylase A | Czasami (5–29%) | W 1 chorobie |
| CTBP1C-terminal binding protein 1 | Czasami (5–29%) | W 2 chorobach |
| CTCFCCCTC-binding factor | Czasami (5–29%) | W 2 chorobach |
| DAG1dystroglycan 1 | Czasami (5–29%) | W 1 chorobie |
| DCCDCC netrin 1 receptor | Czasami (5–29%) | W 1 chorobie |
| DGCR2DiGeorge syndrome critical region gene 2 | Czasami (5–29%) | W 1 chorobie |
| DGCR6DiGeorge syndrome critical region gene 6 | Czasami (5–29%) | W 1 chorobie |
| DGCR8DGCR8 microprocessor complex subunit | Czasami (5–29%) | W 1 chorobie |
| DLK1delta like non-canonical Notch ligand 1 | Czasami (5–29%) | W 1 chorobie |
| DLL3delta like canonical Notch ligand 3 | Czasami (5–29%) | W 1 chorobie |
| DPH1diphthamide biosynthesis 1 | Czasami (5–29%) | W 1 chorobie |
| DPH2diphthamide biosynthesis 2 | Czasami (5–29%) | W 1 chorobie |
| DSEdermatan sulfate epimerase | Czasami (5–29%) | W 1 chorobie |
| DSPdesmoplakin | Czasami (5–29%) | W 1 chorobie |
| DUSP6dual specificity phosphatase 6 | Czasami (5–29%) | W 2 chorobach |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Czasami (5–29%) | W 1 chorobie |
| EARS2glutamyl-tRNA synthetase 2, mitochondrial | Czasami (5–29%) | W 1 chorobie |
| EBF3EBF transcription factor 3 | Czasami (5–29%) | W 1 chorobie |
| EBPEBP cholestenol delta-isomerase | Czasami (5–29%) | W 1 chorobie |
| ECEL1endothelin converting enzyme like 1 | Czasami (5–29%) | W 1 chorobie |
| EDEM3ER degradation enhancing alpha-mannosidase like protein 3 | Czasami (5–29%) | W 1 chorobie |
| EIF5Aeukaryotic translation initiation factor 5A | Czasami (5–29%) | W 1 chorobie |
| EMX2empty spiracles homeobox 2 | Czasami (5–29%) | W 2 chorobach |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Czasami (5–29%) | W 1 chorobie |
| ERCC5ERCC excision repair 5, endonuclease | Czasami (5–29%) | W 1 chorobie |
| ESS2ess-2 spliceosome associated protein | Czasami (5–29%) | W 1 chorobie |
| EYA1EYA transcriptional coactivator and phosphatase 1 | Czasami (5–29%) | W 3 chorobach |
| FAM50Afamily with sequence similarity 50 member A | Czasami (5–29%) | W 1 chorobie |
| FANCAFA complementation group A | Czasami (5–29%) | W 1 chorobie |
| FANCBFA complementation group B | Czasami (5–29%) | W 1 chorobie |
| FANCCFA complementation group C | Czasami (5–29%) | W 1 chorobie |
| FANCD2FA complementation group D2 | Czasami (5–29%) | W 1 chorobie |
| FANCEFA complementation group E | Czasami (5–29%) | W 1 chorobie |
| FANCFFA complementation group F | Czasami (5–29%) | W 1 chorobie |
| FANCGFA complementation group G | Czasami (5–29%) | W 1 chorobie |
| FANCIFA complementation group I | Czasami (5–29%) | W 1 chorobie |
| FANCMFA complementation group M | Czasami (5–29%) | W 1 chorobie |
| FBXO11F-box protein 11 | Czasami (5–29%) | W 1 chorobie |
| FEZF1FEZ family zinc finger 1 | Czasami (5–29%) | W 1 chorobie |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Czasami (5–29%) | W 2 chorobach |
| FGF17fibroblast growth factor 17 | Czasami (5–29%) | W 2 chorobach |
| FGF20fibroblast growth factor 20 | Czasami (5–29%) | W 1 chorobie |
| FGFR2fibroblast growth factor receptor 2 | Czasami (5–29%) | W 7 chorobach |
| FGFR3fibroblast growth factor receptor 3 | Czasami (5–29%) | W 1 chorobie |
| FILIP1filamin A interacting protein 1 | Czasami (5–29%) | W 1 chorobie |
| FKRPfukutin related protein | Czasami (5–29%) | W 2 chorobach |
| FKTNfukutin | Czasami (5–29%) | W 2 chorobach |
| FLNBfilamin B | Czasami (5–29%) | W 7 chorobach |
| FLRT3fibronectin leucine rich transmembrane protein 3 | Czasami (5–29%) | W 1 chorobie |
| FLVCR2FLVCR choline and putative heme transporter 2 | Czasami (5–29%) | W 1 chorobie |
| FOXC2forkhead box C2 | Czasami (5–29%) | W 2 chorobach |
| G6PC3glucose-6-phosphatase catalytic subunit 3 | Czasami (5–29%) | W 1 chorobie |
| GABRA3gamma-aminobutyric acid type A receptor subunit alpha3 | Czasami (5–29%) | W 1 chorobie |
| GDF3growth differentiation factor 3 | Czasami (5–29%) | W 1 chorobie |
| GDF6growth differentiation factor 6 | Czasami (5–29%) | W 2 chorobach |
| GFRA1GDNF family receptor alpha 1 | Czasami (5–29%) | W 1 chorobie |
| GJB2gap junction protein beta 2 | Czasami (5–29%) | W 1 chorobie |
| GLI3GLI family zinc finger 3 | Czasami (5–29%) | W 3 chorobach |
| GMNNgeminin DNA replication inhibitor | Czasami (5–29%) | W 2 chorobach |
| GMPPBGDP-mannose pyrophosphorylase B | Czasami (5–29%) | W 1 chorobie |
| GNB1G protein subunit beta 1 | Czasami (5–29%) | W 2 chorobach |
| GNRH1gonadotropin releasing hormone 1 | Czasami (5–29%) | W 1 chorobie |
| GNRHRgonadotropin releasing hormone receptor | Czasami (5–29%) | W 1 chorobie |
| GREB1LGREB1 like retinoic acid receptor coactivator | Czasami (5–29%) | W 1 chorobie |
| GTF3C3general transcription factor IIIC subunit 3 | Czasami (5–29%) | W 1 chorobie |
| H4C5H4 clustered histone 5 | Czasami (5–29%) | W 1 chorobie |
| HCCSholocytochrome c synthase | Czasami (5–29%) | W 1 chorobie |
| HDAC8histone deacetylase 8 | Czasami (5–29%) | W 2 chorobach |
| HDAC9histone deacetylase 9 | Czasami (5–29%) | W 1 chorobie |
| HES7hes family bHLH transcription factor 7 | Czasami (5–29%) | W 1 chorobie |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Czasami (5–29%) | W 3 chorobach |
| HOXD13homeobox D13 | Czasami (5–29%) | W 1 chorobie |
| HS6ST1heparan sulfate 6-O-sulfotransferase 1 | Czasami (5–29%) | W 3 chorobach |
| HSPG2heparan sulfate proteoglycan 2 | Czasami (5–29%) | W 2 chorobach |
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Czasami (5–29%) | W 1 chorobie |
| IL17RDinterleukin 17 receptor D | Czasami (5–29%) | W 1 chorobie |
| INPP5Einositol polyphosphate-5-phosphatase E | Czasami (5–29%) | W 1 chorobie |
| INPPL1inositol polyphosphate phosphatase like 1 | Czasami (5–29%) | W 1 chorobie |
| ITGA8integrin subunit alpha 8 | Czasami (5–29%) | W 1 chorobie |
| JARID2jumonji and AT-rich interaction domain containing 2 | Czasami (5–29%) | W 1 chorobie |
| JUPjunction plakoglobin | Czasami (5–29%) | W 1 chorobie |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Czasami (5–29%) | W 1 chorobie |
| KAT6Alysine acetyltransferase 6A | Czasami (5–29%) | W 2 chorobach |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Czasami (5–29%) | W 1 chorobie |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Czasami (5–29%) | W 1 chorobie |
| KDF1keratinocyte differentiation factor 1 | Czasami (5–29%) | W 1 chorobie |
| KISS1KiSS-1 metastasis suppressor | Czasami (5–29%) | W 1 chorobie |
| KISS1RKISS1 receptor | Czasami (5–29%) | W 1 chorobie |
| KLHL41kelch like family member 41 | Czasami (5–29%) | W 1 chorobie |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Czasami (5–29%) | W 2 chorobach |
| LARS2leucyl-tRNA synthetase 2, mitochondrial | Czasami (5–29%) | W 1 chorobie |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Czasami (5–29%) | W 2 chorobach |
| LFNGLFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Czasami (5–29%) | W 1 chorobie |
| LMBRD1LMBR1 domain containing 1 | Czasami (5–29%) | W 1 chorobie |
| MAD2L2mitotic arrest deficient 2 like 2 | Czasami (5–29%) | W 1 chorobie |
| MAFBMAF bZIP transcription factor B | Czasami (5–29%) | W 1 chorobie |
| MAMLD1mastermind like domain containing 1 | Czasami (5–29%) | W 1 chorobie |
| MAP2K1mitogen-activated protein kinase kinase 1 | Czasami (5–29%) | W 1 chorobie |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Czasami (5–29%) | W 2 chorobach |
| MAPK1mitogen-activated protein kinase 1 | Czasami (5–29%) | W 1 chorobie |
| MAU2MAU2 sister chromatid cohesion factor | Czasami (5–29%) | W 1 chorobie |
| MEG3maternally expressed 3 | Czasami (5–29%) | W 1 chorobie |
| MEOX1mesenchyme homeobox 1 | Czasami (5–29%) | W 2 chorobach |
| MESP2mesoderm posterior bHLH transcription factor 2 | Czasami (5–29%) | W 1 chorobie |
| MKKSMKKS centrosomal shuttling protein | Czasami (5–29%) | W 1 chorobie |
| MYH3myosin heavy chain 3 | Czasami (5–29%) | W 4 chorobach |
| MYL11myosin light chain 11 | Czasami (5–29%) | W 1 chorobie |
| NAE1NEDD8 activating enzyme E1 subunit 1 | Czasami (5–29%) | W 1 chorobie |
| NBNnibrin | Czasami (5–29%) | W 2 chorobach |
| NDNFneuron derived neurotrophic factor | Czasami (5–29%) | W 1 chorobie |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Czasami (5–29%) | W 1 chorobie |
| NELFAnegative elongation factor complex member A | Czasami (5–29%) | W 1 chorobie |
| NFIXnuclear factor I X | Czasami (5–29%) | W 1 chorobie |
| NHLH2nescient helix-loop-helix 2 | Czasami (5–29%) | W 1 chorobie |
| NIPBLNIPBL cohesin loading factor | Czasami (5–29%) | W 2 chorobach |
| NOTCH2notch receptor 2 | Czasami (5–29%) | W 1 chorobie |
| NOTCH3notch receptor 3 | Czasami (5–29%) | W 1 chorobie |
| NPHP1nephrocystin 1 | Czasami (5–29%) | W 1 chorobie |
| NSD2nuclear receptor binding SET domain protein 2 | Czasami (5–29%) | W 2 chorobach |
| NSMFNMDA receptor synaptonuclear signaling and neuronal migration factor | Czasami (5–29%) | W 2 chorobach |
| ORC1origin recognition complex subunit 1 | Czasami (5–29%) | W 2 chorobach |
| ORC4origin recognition complex subunit 4 | Czasami (5–29%) | W 1 chorobie |
| ORC6origin recognition complex subunit 6 | Czasami (5–29%) | W 1 chorobie |
| PALB2partner and localizer of BRCA2 | Czasami (5–29%) | W 1 chorobie |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Czasami (5–29%) | W 1 chorobie |
| PAX3paired box 3 | Czasami (5–29%) | W 1 chorobie |
| PDZD8PDZ domain containing 8 | Czasami (5–29%) | W 1 chorobie |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Czasami (5–29%) | W 1 chorobie |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Czasami (5–29%) | W 1 chorobie |
| PLXND1plexin D1 | Czasami (5–29%) | W 1 chorobie |
| POGZpogo transposable element derived with ZNF domain | Czasami (5–29%) | W 1 chorobie |
| POLR2ARNA polymerase II subunit A | Czasami (5–29%) | W 1 chorobie |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Czasami (5–29%) | W 1 chorobie |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Czasami (5–29%) | W 1 chorobie |
| POMKprotein O-mannose kinase | Czasami (5–29%) | W 1 chorobie |
| POMT1protein O-mannosyltransferase 1 | Czasami (5–29%) | W 2 chorobach |
| PORCNporcupine O-acyltransferase | Czasami (5–29%) | W 2 chorobach |
| PROK2prokineticin 2 | Czasami (5–29%) | W 2 chorobach |
| PSAT1phosphoserine aminotransferase 1 | Czasami (5–29%) | W 1 chorobie |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Czasami (5–29%) | W 1 chorobie |
| PTDSS1phosphatidylserine synthase 1 | Czasami (5–29%) | W 2 chorobach |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Czasami (5–29%) | W 2 chorobach |
| RAD21RAD21 cohesin complex component | Czasami (5–29%) | W 2 chorobach |
| RAD51RAD51 recombinase | Czasami (5–29%) | W 1 chorobie |
| RAD51CRAD51 paralog C | Czasami (5–29%) | W 1 chorobie |
| RAI1retinoic acid induced 1 | Czasami (5–29%) | W 1 chorobie |
| RARBretinoic acid receptor beta | Czasami (5–29%) | W 1 chorobie |
| RBM8ARNA binding motif protein 8A | Czasami (5–29%) | W 2 chorobach |
| RETret proto-oncogene | Czasami (5–29%) | W 1 chorobie |
| REV3LREV3 like, DNA directed polymerase zeta catalytic subunit | Czasami (5–29%) | W 1 chorobie |
| RFWD3ring finger and WD repeat domain 3 | Czasami (5–29%) | W 1 chorobie |
| RIPPLY2ripply transcriptional repressor 2 | Czasami (5–29%) | W 1 chorobie |
| RNU12RNA, U12 small nuclear | Czasami (5–29%) | W 2 chorobach |
| RPL17ribosomal protein L17 | Czasami (5–29%) | W 1 chorobie |
| RTL1retrotransposon Gag like 1 | Czasami (5–29%) | W 1 chorobie |
| RUNX2RUNX family transcription factor 2 | Czasami (5–29%) | W 2 chorobach |
| RXYLT1ribitol xylosyltransferase 1 | Czasami (5–29%) | W 1 chorobie |
| SALL4spalt like transcription factor 4 | Czasami (5–29%) | W 1 chorobie |
| SCUBE3signal peptide, CUB domain and EGF like domain containing 3 | Czasami (5–29%) | W 1 chorobie |
| SEC23ASEC23 homolog A, COPII component | Czasami (5–29%) | W 1 chorobie |
| SEMA3Asemaphorin 3A | Czasami (5–29%) | W 1 chorobie |
| SEMA3Esemaphorin 3E | Czasami (5–29%) | W 1 chorobie |
| SEPTIN9septin 9 | Czasami (5–29%) | W 2 chorobach |
| SIX1SIX homeobox 1 | Czasami (5–29%) | W 3 chorobach |
| SIX5SIX homeobox 5 | Czasami (5–29%) | W 1 chorobie |
| SLC10A7solute carrier family 10 member 7 | Czasami (5–29%) | W 1 chorobie |
| SLC35D1solute carrier family 35 member D1 | Czasami (5–29%) | W 2 chorobach |
| SLC6A1solute carrier family 6 member 1 | Czasami (5–29%) | W 1 chorobie |
| SLC6A11solute carrier family 6 member 11 | Czasami (5–29%) | W 1 chorobie |
| SLX4SLX4 structure-specific endonuclease subunit | Czasami (5–29%) | W 1 chorobie |
| SMAD4SMAD family member 4 | Czasami (5–29%) | W 2 chorobach |
| SMC3structural maintenance of chromosomes 3 | Czasami (5–29%) | W 2 chorobach |
| SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1 | Czasami (5–29%) | W 2 chorobach |
| SMOC1SPARC related modular calcium binding 1 | Czasami (5–29%) | W 2 chorobach |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Czasami (5–29%) | W 1 chorobie |
| SONSON DNA and RNA binding protein | Czasami (5–29%) | W 1 chorobie |
| SOX10SRY-box transcription factor 10 | Czasami (5–29%) | W 1 chorobie |
| SPRY4sprouty RTK signaling antagonist 4 | Czasami (5–29%) | W 2 chorobach |
| SUFUSUFU negative regulator of hedgehog signaling | Czasami (5–29%) | W 1 chorobie |
| TAC3tachykinin precursor 3 | Czasami (5–29%) | W 1 chorobie |
| TACR3tachykinin receptor 3 | Czasami (5–29%) | W 2 chorobach |
| TBC1D24TBC1 domain family member 24 | Czasami (5–29%) | W 2 chorobach |
| TBX6T-box transcription factor 6 | Czasami (5–29%) | W 2 chorobach |
| TCOF1treacle ribosome biogenesis factor 1 | Czasami (5–29%) | W 2 chorobach |
| TELO2telomere maintenance 2 | Czasami (5–29%) | W 2 chorobach |
| TFE3transcription factor binding to IGHM enhancer 3 | Czasami (5–29%) | W 1 chorobie |
| TMCO1transmembrane and coiled-coil domains 1 | Czasami (5–29%) | W 2 chorobach |
| TRIP13thyroid hormone receptor interactor 13 | Czasami (5–29%) | W 2 chorobach |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Czasami (5–29%) | W 1 chorobie |
| TRRAPtransformation/transcription domain associated protein | Czasami (5–29%) | W 1 chorobie |
| TWIST1twist family bHLH transcription factor 1 | Czasami (5–29%) | W 2 chorobach |
| UBE2Tubiquitin conjugating enzyme E2 T | Czasami (5–29%) | W 1 chorobie |
| USP9Xubiquitin specific peptidase 9 X-linked | Czasami (5–29%) | W 2 chorobach |
| WBP4WW domain binding protein 4 | Czasami (5–29%) | W 1 chorobie |
| WDR11WD repeat domain 11 | Czasami (5–29%) | W 2 chorobach |
| WDR26WD repeat domain 26 | Czasami (5–29%) | W 2 chorobach |
| WNT7AWnt family member 7A | Czasami (5–29%) | W 1 chorobie |
| WNT9BWnt family member 9B | Czasami (5–29%) | W 1 chorobie |
| XRCC2X-ray repair cross complementing 2 | Czasami (5–29%) | W 1 chorobie |
| XYLT1xylosyltransferase 1 | Czasami (5–29%) | W 2 chorobach |
| ZFXzinc finger protein X-linked | Czasami (5–29%) | W 1 chorobie |
| ZIC1Zic family zinc finger 1 | Czasami (5–29%) | W 1 chorobie |
| ZIC4Zic family zinc finger 4 | Czasami (5–29%) | W 1 chorobie |
| ZSWIM6zinc finger SWIM-type containing 6 | Czasami (5–29%) | W 1 chorobie |
| ACBD6acyl-CoA binding domain containing 6 | Rzadko (1–4%) | W 1 chorobie |
| ALX4ALX homeobox 4 | Rzadko (1–4%) | W 1 chorobie |
| ANKRD17ankyrin repeat domain 17 | Rzadko (1–4%) | W 1 chorobie |
| ARXaristaless related homeobox | 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 |
| COL9A1collagen type IX alpha 1 chain | Rzadko (1–4%) | W 1 chorobie |
| COL9A2collagen type IX alpha 2 chain | Rzadko (1–4%) | W 1 chorobie |
| COL9A3collagen type IX alpha 3 chain | Rzadko (1–4%) | W 1 chorobie |
| DMXL2Dmx like 2 | Rzadko (1–4%) | W 1 chorobie |
| FOXF1forkhead box F1 | Rzadko (1–4%) | W 1 chorobie |
| GATA3GATA binding protein 3 | 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 |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Rzadko (1–4%) | W 1 chorobie |
| KDM6Blysine demethylase 6B | Rzadko (1–4%) | W 1 chorobie |
| LEMD3LEM domain containing 3 | Rzadko (1–4%) | W 1 chorobie |
| LGI1leucine rich glioma inactivated 1 | Rzadko (1–4%) | W 1 chorobie |
| LOXL3lysyl oxidase like 3 | Rzadko (1–4%) | W 1 chorobie |
| MSX2msh homeobox 2 | 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 |
| 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 |
| 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 |
| SH2B1SH2B adaptor protein 1 | Rzadko (1–4%) | W 1 chorobie |
| SIK1salt inducible kinase 1 | 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 |
| SPINT2serine peptidase inhibitor, Kunitz type 2 | Rzadko (1–4%) | W 1 chorobie |
| TRIM8tripartite motif containing 8 | Rzadko (1–4%) | W 1 chorobie |
| WDR35WD repeat domain 35 | Rzadko (1–4%) | W 2 chorobach |
| ZEB2zinc finger E-box binding homeobox 2 | Rzadko (1–4%) | W 3 chorobach |
| ARHGAP31Rho GTPase activating protein 31 | Nie odnotowano | W 1 chorobie |
| ATRATR checkpoint kinase | Nie odnotowano | W 1 chorobie |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Nie odnotowano | W 1 chorobie |
| CCN2cellular communication network factor 2 | Nie odnotowano | W 1 chorobie |
| CENPFcentromere protein F | Nie odnotowano | W 1 chorobie |
| CHRNA1cholinergic receptor nicotinic alpha 1 subunit | Nie odnotowano | W 1 chorobie |
| CHRNDcholinergic receptor nicotinic delta subunit | Nie odnotowano | W 1 chorobie |
| CHST3carbohydrate sulfotransferase 3 | Nie odnotowano | W 1 chorobie |
| DONSONDNA replication fork stabilization factor DONSON | Nie odnotowano | W 1 chorobie |
| EFNB1ephrin B1 | Nie odnotowano | W 1 chorobie |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Nie odnotowano | W 1 chorobie |
| EPG5ectopic P-granules 5 autophagy tethering factor | Nie odnotowano | W 1 chorobie |
| FAM20CFAM20C golgi associated secretory pathway kinase | Nie odnotowano | W 1 chorobie |
| FGF9fibroblast growth factor 9 | Nie odnotowano | W 1 chorobie |
| FGFRL1fibroblast growth factor receptor like 1 | Nie odnotowano | W 1 chorobie |
| INTUinturned planar cell polarity protein | Nie odnotowano | W 1 chorobie |
| KCNJ2potassium inwardly rectifying channel subfamily J member 2 | Nie odnotowano | W 1 chorobie |
| KIAA0586KIAA0586 | Nie odnotowano | W 1 chorobie |
| LMX1BLIM homeobox transcription factor 1 beta | Nie odnotowano | W 1 chorobie |
| MED12mediator complex subunit 12 | Nie odnotowano | W 1 chorobie |
| NEBnebulin | Nie odnotowano | W 1 chorobie |
| NFASCneurofascin | Nie odnotowano | W 1 chorobie |
| NUP107nucleoporin 107 | Nie odnotowano | W 2 chorobach |
| PEX2peroxisomal biogenesis factor 2 | Nie odnotowano | W 1 chorobie |
| PEX5peroxisomal biogenesis factor 5 | Nie odnotowano | W 1 chorobie |
| PEX7peroxisomal biogenesis factor 7 | Nie odnotowano | W 1 chorobie |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Nie odnotowano | W 1 chorobie |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Nie odnotowano | W 1 chorobie |
| RB1RB transcriptional corepressor 1 | Nie odnotowano | W 1 chorobie |
| RPL11ribosomal protein L11 | Nie odnotowano | W 1 chorobie |
| RPS19ribosomal protein S19 | Nie odnotowano | W 1 chorobie |
| SCARF2scavenger receptor class F member 2 | Nie odnotowano | W 1 chorobie |
| SF3B2splicing factor 3b subunit 2 | Nie odnotowano | W 1 chorobie |
| SMOsmoothened, frizzled class receptor | Nie odnotowano | W 1 chorobie |
| STAMBPSTAM binding protein | Nie odnotowano | W 1 chorobie |
| TAPT1transmembrane anterior posterior transformation 1 | Nie odnotowano | W 1 chorobie |
| TBC1D32TBC1 domain family member 32 | Nie odnotowano | W 1 chorobie |
| TBX15T-box transcription factor 15 | Nie odnotowano | W 1 chorobie |
| TBX4T-box transcription factor 4 | Nie odnotowano | W 1 chorobie |
| TFAP2Atranscription factor AP-2 alpha | Nie odnotowano | W 1 chorobie |
| TRAPPC2trafficking protein particle complex subunit 2 | Nie odnotowano | W 1 chorobie |
| TXNL4Athioredoxin like 4A | Nie odnotowano | W 1 chorobie |
| ZC4H2zinc finger C4H2-type containing | 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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