Egenskap
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).
Sammendrag
- Også kalt
- Cleft roof of mouth, Cleft hard and soft palate, Cleft of hard and soft palate, Cleft of palate, Palatoschisis, Uranostaphyloschisis
- Kroppssystem
- Abnormality of head or neck
ReferansegenomGRCh38hg38
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Endringer i disse genene forårsaker sjeldne tilstander der Cleft palate 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 |
|---|---|---|
| ACBD5acyl-CoA binding domain containing 5 | Alltid | I 1 tilstand |
| ACTBactin beta | Alltid | I 1 tilstand |
| BPNT23'(2'), 5'-bisphosphate nucleotidase 2 | Alltid | I 1 tilstand |
| CCDC32coiled-coil domain containing 32 | Alltid | I 1 tilstand |
| COL2A1collagen type II alpha 1 chain | Alltid | I 11 tilstander |
| CREBBPCREB binding lysine acetyltransferase | Alltid | I 3 tilstander |
| DLG5discs large MAGUK scaffold protein 5 | Alltid | I 1 tilstand |
| DMRT2doublesex and mab-3 related transcription factor 2 | Alltid | I 1 tilstand |
| EP300EP300 lysine acetyltransferase | Alltid | I 1 tilstand |
| FLNAfilamin A | Alltid | I 7 tilstander |
| FLVCR1FLVCR choline and heme transporter 1 | Alltid | I 1 tilstand |
| FOXE1forkhead box E1 | Alltid | I 2 tilstander |
| GPC3glypican 3 | Alltid | I 2 tilstander |
| IKZF2IKAROS family zinc finger 2 | Alltid | I 1 tilstand |
| IRF6interferon regulatory factor 6 | Alltid | I 6 tilstander |
| JPH1junctophilin 1 | Alltid | I 1 tilstand |
| KCNK3potassium two pore domain channel subfamily K member 3 | Alltid | I 1 tilstand |
| KIF15kinesin family member 15 | Alltid | I 1 tilstand |
| LRRC32leucine rich repeat containing 32 | Alltid | I 1 tilstand |
| MEIS2Meis homeobox 2 | Alltid | I 2 tilstander |
| MYOD1myogenic differentiation 1 | Alltid | I 2 tilstander |
| OTX2orthodenticle homeobox 2 | Alltid | I 2 tilstander |
| PEX1peroxisomal biogenesis factor 1 | Alltid | I 1 tilstand |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Alltid | I 4 tilstander |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Alltid | I 1 tilstand |
| PRRX1paired related homeobox 1 | Alltid | I 1 tilstand |
| PTBP1polypyrimidine tract binding protein 1 | Alltid | I 1 tilstand |
| PUF60poly(U) binding splicing factor 60 | Alltid | I 1 tilstand |
| RAB34RAB34, member RAS oncogene family | Alltid | I 1 tilstand |
| RBM10RNA binding motif protein 10 | Alltid | I 2 tilstander |
| RPGRIP1LRPGRIP1 like | Alltid | I 3 tilstander |
| RPS28ribosomal protein S28 | Alltid | I 1 tilstand |
| SATB2SATB homeobox 2 | Alltid | I 4 tilstander |
| SNAPINSNAP associated protein | Alltid | I 1 tilstand |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Alltid | I 1 tilstand |
| TP63tumor protein p63 | Alltid | I 8 tilstander |
| TSR2TSR2 ribosome maturation factor | Alltid | I 1 tilstand |
| VAX1ventral anterior homeobox 1 | Alltid | I 1 tilstand |
| ARVCFARVCF delta catenin family member | Svært ofte (80–99 %) | I 1 tilstand |
| COL11A1collagen type XI alpha 1 chain | Svært ofte (80–99 %) | I 7 tilstander |
Vis 530 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| COL11A2collagen type XI alpha 2 chain | Svært ofte (80–99 %) | I 4 tilstander |
| COMTcatechol-O-methyltransferase | Svært ofte (80–99 %) | I 1 tilstand |
| DHCR2424-dehydrocholesterol reductase | Svært ofte (80–99 %) | I 2 tilstander |
| EFTUD2elongation factor Tu GTP binding domain containing 2 | Svært ofte (80–99 %) | I 2 tilstander |
| FGFR1fibroblast growth factor receptor 1 | Svært ofte (80–99 %) | I 9 tilstander |
| GJA1gap junction protein alpha 1 | Svært ofte (80–99 %) | I 2 tilstander |
| GP1BBglycoprotein Ib platelet subunit beta | Svært ofte (80–99 %) | I 1 tilstand |
| GRHL3grainyhead like transcription factor 3 | Svært ofte (80–99 %) | I 2 tilstander |
| HIRAhistone cell cycle regulator | Svært ofte (80–99 %) | I 1 tilstand |
| JMJD1Cjumonji domain containing 1C | Svært ofte (80–99 %) | I 1 tilstand |
| KIFBPkinesin family binding protein | Svært ofte (80–99 %) | I 1 tilstand |
| NEK1NIMA related kinase 1 | Svært ofte (80–99 %) | I 3 tilstander |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Svært ofte (80–99 %) | I 1 tilstand |
| PQBP1polyglutamine binding protein 1 | Svært ofte (80–99 %) | I 2 tilstander |
| RIPK4receptor interacting serine/threonine kinase 4 | Svært ofte (80–99 %) | I 3 tilstander |
| RREB1ras responsive element binding protein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| RSPO2R-spondin 2 | Svært ofte (80–99 %) | I 1 tilstand |
| SEC24CSEC24 homolog C, COPII component | Svært ofte (80–99 %) | I 1 tilstand |
| SNRPBsmall nuclear ribonucleoprotein polypeptides B and B1 | Svært ofte (80–99 %) | I 2 tilstander |
| SOX9SRY-box transcription factor 9 | Svært ofte (80–99 %) | I 3 tilstander |
| TBR1T-box brain transcription factor 1 | Svært ofte (80–99 %) | I 1 tilstand |
| TBX1T-box transcription factor 1 | Svært ofte (80–99 %) | I 4 tilstander |
| TBX22T-box transcription factor 22 | Svært ofte (80–99 %) | I 3 tilstander |
| TGDSTDP-glucose 4,6-dehydratase | Svært ofte (80–99 %) | I 2 tilstander |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Svært ofte (80–99 %) | I 1 tilstand |
| ALX1ALX homeobox 1 | Ofte (30–79 %) | I 2 tilstander |
| ALX3ALX homeobox 3 | Ofte (30–79 %) | I 1 tilstand |
| AMER1APC membrane recruitment protein 1 | Ofte (30–79 %) | I 2 tilstander |
| AMOTL1angiomotin like 1 | Ofte (30–79 %) | I 1 tilstand |
| ANKRD11ankyrin repeat domain 11 | Ofte (30–79 %) | I 1 tilstand |
| ARHGAP29Rho GTPase activating protein 29 | Ofte (30–79 %) | I 1 tilstand |
| ARHGEF38Rho guanine nucleotide exchange factor 38 | Ofte (30–79 %) | I 1 tilstand |
| ARID1BAT-rich interaction domain 1B | Ofte (30–79 %) | I 2 tilstander |
| ARNT2aryl hydrocarbon receptor nuclear translocator 2 | Ofte (30–79 %) | I 1 tilstand |
| B3GALT6beta-1,3-galactosyltransferase 6 | Ofte (30–79 %) | I 2 tilstander |
| B3GLCTbeta 3-glucosyltransferase | Ofte (30–79 %) | I 2 tilstander |
| B9D1B9 domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| B9D2B9 domain containing 2 | Ofte (30–79 %) | I 2 tilstander |
| BCORBCL6 corepressor | Ofte (30–79 %) | I 1 tilstand |
| BMP4bone morphogenetic protein 4 | Ofte (30–79 %) | I 4 tilstander |
| BRPF1bromodomain and PHD finger containing 1 | Ofte (30–79 %) | I 1 tilstand |
| C2CD3C2 domain containing 3 centriole elongation regulator | Ofte (30–79 %) | I 2 tilstander |
| CC2D2Acoiled-coil and C2 domain containing 2A | Ofte (30–79 %) | I 2 tilstander |
| CCDC22CCC complex scaffolding subunit CCDC22 | Ofte (30–79 %) | I 1 tilstand |
| CDH1cadherin 1 | Ofte (30–79 %) | I 2 tilstander |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Ofte (30–79 %) | I 1 tilstand |
| CDONcell adhesion associated, oncogene regulated | Ofte (30–79 %) | I 6 tilstander |
| CEP290centrosomal protein 290 | Ofte (30–79 %) | I 3 tilstander |
| CHD7chromodomain helicase DNA binding protein 7 | Ofte (30–79 %) | I 5 tilstander |
| COBLL1cordon-bleu WH2 repeat protein like 1 | Ofte (30–79 %) | I 1 tilstand |
| COG1component of oligomeric golgi complex 1 | Ofte (30–79 %) | I 1 tilstand |
| COLEC10collectin subfamily member 10 | Ofte (30–79 %) | I 1 tilstand |
| COLEC11collectin subfamily member 11 | Ofte (30–79 %) | I 1 tilstand |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Ofte (30–79 %) | I 2 tilstander |
| CPLX1complexin 1 | Ofte (30–79 %) | I 3 tilstander |
| CRIPTOcripto, EGF-CFC family member | Ofte (30–79 %) | I 5 tilstander |
| CSPP1centrosome and spindle pole associated protein 1 | Ofte (30–79 %) | I 1 tilstand |
| CTNNB1catenin beta 1 | Ofte (30–79 %) | I 1 tilstand |
| CYP26C1cytochrome P450 family 26 subfamily C member 1 | Ofte (30–79 %) | I 1 tilstand |
| DDX3XDEAD-box helicase 3 X-linked | Ofte (30–79 %) | I 2 tilstander |
| DDX59DEAD-box helicase 59 | Ofte (30–79 %) | I 1 tilstand |
| DEF6DEF6 guanine nucleotide exchange factor | Ofte (30–79 %) | I 1 tilstand |
| DHCR77-dehydrocholesterol reductase | Ofte (30–79 %) | I 2 tilstander |
| DHODHdihydroorotate dehydrogenase (quinone) | Ofte (30–79 %) | I 2 tilstander |
| DISP1dispatched RND transporter family member 1 | Ofte (30–79 %) | I 5 tilstander |
| DLG1discs large MAGUK scaffold protein 1 | Ofte (30–79 %) | I 1 tilstand |
| DLL1delta like canonical Notch ligand 1 | Ofte (30–79 %) | I 5 tilstander |
| DLX4distal-less homeobox 4 | Ofte (30–79 %) | I 1 tilstand |
| DLX5distal-less homeobox 5 | Ofte (30–79 %) | I 1 tilstand |
| DOK7docking protein 7 | Ofte (30–79 %) | I 1 tilstand |
| DPYSL5dihydropyrimidinase like 5 | Ofte (30–79 %) | I 1 tilstand |
| DVL1dishevelled segment polarity protein 1 | Ofte (30–79 %) | I 1 tilstand |
| DVL3dishevelled segment polarity protein 3 | Ofte (30–79 %) | I 1 tilstand |
| EDN1endothelin 1 | Ofte (30–79 %) | I 1 tilstand |
| EDNRAendothelin receptor type A | Ofte (30–79 %) | I 1 tilstand |
| EIF4A3eukaryotic translation initiation factor 4A3 | Ofte (30–79 %) | I 1 tilstand |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Ofte (30–79 %) | I 2 tilstander |
| FAAP100FA core complex associated protein 100 | Ofte (30–79 %) | I 2 tilstander |
| FAM149B1family with sequence similarity 149 member B1 | Ofte (30–79 %) | I 1 tilstand |
| FANCLFA complementation group L | Ofte (30–79 %) | I 2 tilstander |
| FGF8fibroblast growth factor 8 | Ofte (30–79 %) | I 7 tilstander |
| FOXH1forkhead box H1 | Ofte (30–79 %) | I 5 tilstander |
| FRAS1Fraser extracellular matrix complex subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| FTOFTO alpha-ketoglutarate dependent dioxygenase | Ofte (30–79 %) | I 1 tilstand |
| FZD2frizzled class receptor 2 | Ofte (30–79 %) | I 1 tilstand |
| GAD1glutamate decarboxylase 1 | Ofte (30–79 %) | I 1 tilstand |
| GAS1growth arrest specific 1 | Ofte (30–79 %) | I 5 tilstander |
| GLDNgliomedin | Ofte (30–79 %) | I 1 tilstand |
| GLI2GLI family zinc finger 2 | Ofte (30–79 %) | I 7 tilstander |
| GNAI3G protein subunit alpha i3 | Ofte (30–79 %) | I 2 tilstander |
| GPC4glypican 4 | Ofte (30–79 %) | I 1 tilstand |
| HESX1HESX homeobox 1 | Ofte (30–79 %) | I 2 tilstander |
| HMGA2high mobility group AT-hook 2 | Ofte (30–79 %) | I 1 tilstand |
| HOXA2homeobox A2 | Ofte (30–79 %) | I 1 tilstand |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Ofte (30–79 %) | I 2 tilstander |
| IGBP1immunoglobulin binding protein 1 | Ofte (30–79 %) | I 1 tilstand |
| IGF2insulin like growth factor 2 | Ofte (30–79 %) | I 1 tilstand |
| INTS1integrator complex subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| IPO8importin 8 | Ofte (30–79 %) | I 1 tilstand |
| KAT6Blysine acetyltransferase 6B | Ofte (30–79 %) | I 1 tilstand |
| KATNIPkatanin interacting protein | Ofte (30–79 %) | I 1 tilstand |
| KDM6Alysine demethylase 6A | Ofte (30–79 %) | I 3 tilstander |
| KIAA0753KIAA0753 | Ofte (30–79 %) | I 1 tilstand |
| KIF21Akinesin family member 21A | Ofte (30–79 %) | I 1 tilstand |
| KIF7kinesin family member 7 | Ofte (30–79 %) | I 4 tilstander |
| KMT2Dlysine methyltransferase 2D | Ofte (30–79 %) | I 2 tilstander |
| LRRC7leucine rich repeat containing 7 | Ofte (30–79 %) | I 1 tilstand |
| MAFMAF bZIP transcription factor | Ofte (30–79 %) | I 1 tilstand |
| MAGEL2MAGE family member L2 | Ofte (30–79 %) | I 1 tilstand |
| MAN2B2mannosidase alpha class 2B member 2 | Ofte (30–79 %) | I 1 tilstand |
| MAPRE2microtubule associated protein RP/EB family member 2 | Ofte (30–79 %) | I 2 tilstander |
| MASP1MBL associated serine protease 1 | Ofte (30–79 %) | I 1 tilstand |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Ofte (30–79 %) | I 2 tilstander |
| MCTP2multiple C2 and transmembrane domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| MECOMMDS1 and EVI1 complex locus | Ofte (30–79 %) | I 1 tilstand |
| MED16mediator complex subunit 16 | Ofte (30–79 %) | I 1 tilstand |
| MED25mediator complex subunit 25 | Ofte (30–79 %) | I 2 tilstander |
| MEGF10multiple EGF like domains 10 | Ofte (30–79 %) | I 2 tilstander |
| MID1midline 1 | Ofte (30–79 %) | I 2 tilstander |
| MKS1MKS transition zone complex subunit 1 | Ofte (30–79 %) | I 2 tilstander |
| MSX1msh homeobox 1 | Ofte (30–79 %) | I 2 tilstander |
| MUSKmuscle associated receptor tyrosine kinase | Ofte (30–79 %) | I 1 tilstand |
| MYMKmyomaker, myoblast fusion factor | Ofte (30–79 %) | I 2 tilstander |
| MYMXmyomixer, myoblast fusion factor | Ofte (30–79 %) | I 1 tilstand |
| NECTIN1nectin cell adhesion molecule 1 | Ofte (30–79 %) | I 2 tilstander |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Ofte (30–79 %) | I 1 tilstand |
| NODALnodal growth differentiation factor | Ofte (30–79 %) | I 5 tilstander |
| NUP88nucleoporin 88 | Ofte (30–79 %) | I 1 tilstand |
| OFD1OFD1 centriole and centriolar satellite protein | Ofte (30–79 %) | I 3 tilstander |
| PDE6Dphosphodiesterase 6D | Ofte (30–79 %) | I 1 tilstand |
| PDGFRAplatelet derived growth factor receptor alpha | Ofte (30–79 %) | I 1 tilstand |
| PGAP2post-GPI attachment to proteins 2 | Ofte (30–79 %) | I 1 tilstand |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Ofte (30–79 %) | I 1 tilstand |
| PGM1phosphoglucomutase 1 | Ofte (30–79 %) | I 1 tilstand |
| PHF8PHD finger protein 8 | Ofte (30–79 %) | I 1 tilstand |
| PHGDHphosphoglycerate dehydrogenase | Ofte (30–79 %) | I 1 tilstand |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Ofte (30–79 %) | I 2 tilstander |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Ofte (30–79 %) | I 2 tilstander |
| PLAG1PLAG1 zinc finger | Ofte (30–79 %) | I 1 tilstand |
| PLCB4phospholipase C beta 4 | Ofte (30–79 %) | I 2 tilstander |
| PLCH1phospholipase C eta 1 | Ofte (30–79 %) | I 2 tilstander |
| POLR1ARNA polymerase I subunit A | Ofte (30–79 %) | I 1 tilstand |
| POLR1BRNA polymerase I subunit B | Ofte (30–79 %) | I 2 tilstander |
| POLR1CRNA polymerase I and III subunit C | Ofte (30–79 %) | I 2 tilstander |
| POLR1DRNA polymerase I and III subunit D | Ofte (30–79 %) | I 2 tilstander |
| POMT2protein O-mannosyltransferase 2 | Ofte (30–79 %) | I 3 tilstander |
| PPP2R3Cprotein phosphatase 2 regulatory subunit B''gamma | Ofte (30–79 %) | I 1 tilstand |
| PROKR2prokineticin receptor 2 | Ofte (30–79 %) | I 4 tilstander |
| PTCH1patched 1 | Ofte (30–79 %) | I 7 tilstander |
| RAPSNreceptor associated protein of the synapse | Ofte (30–79 %) | I 2 tilstander |
| RECQL4RecQ like helicase 4 | Ofte (30–79 %) | I 5 tilstander |
| RIC1RIC1 partner of RAB6A GEF complex | Ofte (30–79 %) | I 2 tilstander |
| RNU4ATACRNA, U4atac small nuclear | Ofte (30–79 %) | I 1 tilstand |
| RPGRIP1RPGR interacting protein 1 | Ofte (30–79 %) | I 1 tilstand |
| RPL5ribosomal protein L5 | Ofte (30–79 %) | I 1 tilstand |
| RPS26ribosomal protein S26 | Ofte (30–79 %) | I 1 tilstand |
| SELENOIselenoprotein I | Ofte (30–79 %) | I 2 tilstander |
| SETD5SET domain containing 5 | Ofte (30–79 %) | I 1 tilstand |
| SF3B4splicing factor 3b subunit 4 | Ofte (30–79 %) | I 2 tilstander |
| SHHsonic hedgehog signaling molecule | Ofte (30–79 %) | I 6 tilstander |
| SIX3SIX homeobox 3 | Ofte (30–79 %) | I 5 tilstander |
| SLC18A3solute carrier family 18 member A3 | Ofte (30–79 %) | I 1 tilstand |
| SLC26A2solute carrier family 26 member 2 | Ofte (30–79 %) | I 5 tilstander |
| SLC35B2solute carrier family 35 member B2 | Ofte (30–79 %) | I 1 tilstand |
| SMAD2SMAD family member 2 | Ofte (30–79 %) | I 1 tilstand |
| SMAD3SMAD family member 3 | Ofte (30–79 %) | I 2 tilstander |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Ofte (30–79 %) | I 1 tilstand |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Ofte (30–79 %) | I 1 tilstand |
| SMC1Astructural maintenance of chromosomes 1A | Ofte (30–79 %) | I 3 tilstander |
| SMSspermine synthase | Ofte (30–79 %) | I 2 tilstander |
| SOX2SRY-box transcription factor 2 | Ofte (30–79 %) | I 1 tilstand |
| SOX3SRY-box transcription factor 3 | Ofte (30–79 %) | I 1 tilstand |
| STAC3SH3 and cysteine rich domain 3 | Ofte (30–79 %) | I 2 tilstander |
| STAG2STAG2 cohesin complex component | Ofte (30–79 %) | I 4 tilstander |
| STAT3signal transducer and activator of transcription 3 | Ofte (30–79 %) | I 1 tilstand |
| STILSTIL centriolar assembly protein | Ofte (30–79 %) | I 4 tilstander |
| TBX2T-box transcription factor 2 | Ofte (30–79 %) | I 1 tilstand |
| TCTN1tectonic family member 1 | Ofte (30–79 %) | I 1 tilstand |
| TCTN2tectonic family member 2 | Ofte (30–79 %) | I 2 tilstander |
| TCTN3tectonic family member 3 | Ofte (30–79 %) | I 5 tilstander |
| TGFB2transforming growth factor beta 2 | Ofte (30–79 %) | I 1 tilstand |
| TGFB3transforming growth factor beta 3 | Ofte (30–79 %) | I 2 tilstander |
| TGFBR1transforming growth factor beta receptor 1 | Ofte (30–79 %) | I 2 tilstander |
| TGFBR2transforming growth factor beta receptor 2 | Ofte (30–79 %) | I 2 tilstander |
| TGIF1TGFB induced factor homeobox 1 | Ofte (30–79 %) | I 5 tilstander |
| TMEM107transmembrane protein 107 | Ofte (30–79 %) | I 1 tilstand |
| TMEM216transmembrane protein 216 | Ofte (30–79 %) | I 3 tilstander |
| TMEM231transmembrane protein 231 | Ofte (30–79 %) | I 2 tilstander |
| TMEM237transmembrane protein 237 | Ofte (30–79 %) | I 3 tilstander |
| TMEM67transmembrane protein 67 | Ofte (30–79 %) | I 2 tilstander |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Ofte (30–79 %) | I 1 tilstand |
| TUBA1Atubulin alpha 1a | Ofte (30–79 %) | I 1 tilstand |
| TUBBtubulin beta class I | Ofte (30–79 %) | I 2 tilstander |
| TXNDC15thioredoxin domain containing 15 | 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 |
| WNT3Wnt family member 3 | Ofte (30–79 %) | I 1 tilstand |
| WNT4Wnt family member 4 | Ofte (30–79 %) | I 2 tilstander |
| YAP1Yes1 associated transcriptional regulator | Ofte (30–79 %) | I 1 tilstand |
| ZIC2Zic family zinc finger 2 | Ofte (30–79 %) | I 5 tilstander |
| ZSCAN10zinc finger and SCAN domain containing 10 | Ofte (30–79 %) | I 1 tilstand |
| ACTG2actin gamma 2, smooth muscle | Noen ganger (5–29 %) | I 1 tilstand |
| AHDC1AT-hook DNA binding motif containing 1 | Noen ganger (5–29 %) | I 1 tilstand |
| AHI1Abelson helper integration site 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ANOS1anosmin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ARandrogen receptor | Noen ganger (5–29 %) | I 1 tilstand |
| ARCN1archain 1 coat protein complex I subunit delta | Noen ganger (5–29 %) | I 1 tilstand |
| ARID2AT-rich interaction domain 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Noen ganger (5–29 %) | I 1 tilstand |
| ASXL1ASXL transcriptional regulator 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ATN1atrophin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Noen ganger (5–29 %) | I 2 tilstander |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| B4GALT7beta-1,4-galactosyltransferase 7 | Noen ganger (5–29 %) | I 1 tilstand |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| BCRBCR activator of RhoGEF and GTPase | Noen ganger (5–29 %) | I 1 tilstand |
| BMPERBMP binding endothelial regulator | Noen ganger (5–29 %) | I 2 tilstander |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Noen ganger (5–29 %) | I 1 tilstand |
| BRCA1BRCA1 DNA repair associated | Noen ganger (5–29 %) | I 1 tilstand |
| BRCA2BRCA2 DNA repair associated | Noen ganger (5–29 %) | I 1 tilstand |
| BRD4bromodomain containing 4 | Noen ganger (5–29 %) | I 1 tilstand |
| BRIP1BRCA1 interacting DNA helicase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Noen ganger (5–29 %) | I 1 tilstand |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Noen ganger (5–29 %) | I 2 tilstander |
| BUB3BUB3 mitotic checkpoint protein | Noen ganger (5–29 %) | I 1 tilstand |
| CCDC141coiled-coil domain containing 141 | Noen ganger (5–29 %) | I 1 tilstand |
| CD96CD96 molecule | Noen ganger (5–29 %) | I 1 tilstand |
| CDC45cell division cycle 45 | Noen ganger (5–29 %) | I 2 tilstander |
| CDC6cell division cycle 6 | Noen ganger (5–29 %) | I 1 tilstand |
| CDH11cadherin 11 | Noen ganger (5–29 %) | I 1 tilstand |
| CDT1chromatin licensing and DNA replication factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CEP120centrosomal protein 120 | Noen ganger (5–29 %) | I 2 tilstander |
| CEP152centrosomal protein 152 | Noen ganger (5–29 %) | I 1 tilstand |
| CEP41centrosomal protein 41 | Noen ganger (5–29 %) | I 1 tilstand |
| CEP57centrosomal protein 57 | Noen ganger (5–29 %) | I 1 tilstand |
| CHN1chimerin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CHRNGcholinergic receptor nicotinic gamma subunit | Noen ganger (5–29 %) | I 3 tilstander |
| CHST14carbohydrate sulfotransferase 14 | Noen ganger (5–29 %) | I 2 tilstander |
| CHSY1chondroitin sulfate synthase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| COL1A1collagen type I alpha 1 chain | Noen ganger (5–29 %) | I 1 tilstand |
| COL1A2collagen type I alpha 2 chain | Noen ganger (5–29 %) | I 1 tilstand |
| COL4A1collagen type IV alpha 1 chain | Noen ganger (5–29 %) | I 1 tilstand |
| COX7Bcytochrome c oxidase subunit 7B | Noen ganger (5–29 %) | I 1 tilstand |
| CRELD1CRELD disulfide isomerase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CRKLCRK like proto-oncogene, adaptor protein | Noen ganger (5–29 %) | I 1 tilstand |
| CRPPACDP-L-ribitol pyrophosphorylase A | Noen ganger (5–29 %) | I 1 tilstand |
| CTBP1C-terminal binding protein 1 | Noen ganger (5–29 %) | I 2 tilstander |
| CTCFCCCTC-binding factor | Noen ganger (5–29 %) | I 2 tilstander |
| DAG1dystroglycan 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DCCDCC netrin 1 receptor | Noen ganger (5–29 %) | I 1 tilstand |
| DGCR2DiGeorge syndrome critical region gene 2 | Noen ganger (5–29 %) | I 1 tilstand |
| DGCR6DiGeorge syndrome critical region gene 6 | Noen ganger (5–29 %) | I 1 tilstand |
| DGCR8DGCR8 microprocessor complex subunit | Noen ganger (5–29 %) | I 1 tilstand |
| DLK1delta like non-canonical Notch ligand 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DLL3delta like canonical Notch ligand 3 | Noen ganger (5–29 %) | I 1 tilstand |
| DPH1diphthamide biosynthesis 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DPH2diphthamide biosynthesis 2 | Noen ganger (5–29 %) | I 1 tilstand |
| DSEdermatan sulfate epimerase | Noen ganger (5–29 %) | I 1 tilstand |
| DSPdesmoplakin | Noen ganger (5–29 %) | I 1 tilstand |
| DUSP6dual specificity phosphatase 6 | Noen ganger (5–29 %) | I 2 tilstander |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Noen ganger (5–29 %) | I 1 tilstand |
| EARS2glutamyl-tRNA synthetase 2, mitochondrial | Noen ganger (5–29 %) | I 1 tilstand |
| EBF3EBF transcription factor 3 | Noen ganger (5–29 %) | I 1 tilstand |
| EBPEBP cholestenol delta-isomerase | Noen ganger (5–29 %) | I 1 tilstand |
| ECEL1endothelin converting enzyme like 1 | Noen ganger (5–29 %) | I 1 tilstand |
| EDEM3ER degradation enhancing alpha-mannosidase like protein 3 | Noen ganger (5–29 %) | I 1 tilstand |
| EIF5Aeukaryotic translation initiation factor 5A | Noen ganger (5–29 %) | I 1 tilstand |
| EMX2empty spiracles homeobox 2 | Noen ganger (5–29 %) | I 2 tilstander |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| ERCC5ERCC excision repair 5, endonuclease | Noen ganger (5–29 %) | I 1 tilstand |
| ESS2ess-2 spliceosome associated protein | Noen ganger (5–29 %) | I 1 tilstand |
| EYA1EYA transcriptional coactivator and phosphatase 1 | Noen ganger (5–29 %) | I 3 tilstander |
| FAM50Afamily with sequence similarity 50 member A | Noen ganger (5–29 %) | I 1 tilstand |
| FANCAFA complementation group A | Noen ganger (5–29 %) | I 1 tilstand |
| FANCBFA complementation group B | Noen ganger (5–29 %) | I 1 tilstand |
| FANCCFA complementation group C | Noen ganger (5–29 %) | I 1 tilstand |
| FANCD2FA complementation group D2 | Noen ganger (5–29 %) | I 1 tilstand |
| FANCEFA complementation group E | Noen ganger (5–29 %) | I 1 tilstand |
| FANCFFA complementation group F | Noen ganger (5–29 %) | I 1 tilstand |
| FANCGFA complementation group G | Noen ganger (5–29 %) | I 1 tilstand |
| FANCIFA complementation group I | Noen ganger (5–29 %) | I 1 tilstand |
| FANCMFA complementation group M | Noen ganger (5–29 %) | I 1 tilstand |
| FBXO11F-box protein 11 | Noen ganger (5–29 %) | I 1 tilstand |
| FEZF1FEZ family zinc finger 1 | Noen ganger (5–29 %) | I 1 tilstand |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Noen ganger (5–29 %) | I 2 tilstander |
| FGF17fibroblast growth factor 17 | Noen ganger (5–29 %) | I 2 tilstander |
| FGF20fibroblast growth factor 20 | Noen ganger (5–29 %) | I 1 tilstand |
| FGFR2fibroblast growth factor receptor 2 | Noen ganger (5–29 %) | I 7 tilstander |
| FGFR3fibroblast growth factor receptor 3 | Noen ganger (5–29 %) | I 1 tilstand |
| FILIP1filamin A interacting protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| FKRPfukutin related protein | Noen ganger (5–29 %) | I 2 tilstander |
| FKTNfukutin | Noen ganger (5–29 %) | I 2 tilstander |
| FLNBfilamin B | Noen ganger (5–29 %) | I 7 tilstander |
| FLRT3fibronectin leucine rich transmembrane protein 3 | Noen ganger (5–29 %) | I 1 tilstand |
| FLVCR2FLVCR choline and putative heme transporter 2 | Noen ganger (5–29 %) | I 1 tilstand |
| FOXC2forkhead box C2 | Noen ganger (5–29 %) | I 2 tilstander |
| G6PC3glucose-6-phosphatase catalytic subunit 3 | Noen ganger (5–29 %) | I 1 tilstand |
| GABRA3gamma-aminobutyric acid type A receptor subunit alpha3 | 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 2 tilstander |
| GFRA1GDNF family receptor alpha 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GJB2gap junction protein beta 2 | Noen ganger (5–29 %) | I 1 tilstand |
| GLI3GLI family zinc finger 3 | Noen ganger (5–29 %) | I 3 tilstander |
| GMNNgeminin DNA replication inhibitor | Noen ganger (5–29 %) | I 2 tilstander |
| GMPPBGDP-mannose pyrophosphorylase B | Noen ganger (5–29 %) | I 1 tilstand |
| GNB1G protein subunit beta 1 | Noen ganger (5–29 %) | I 2 tilstander |
| GNRH1gonadotropin releasing hormone 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GNRHRgonadotropin releasing hormone receptor | Noen ganger (5–29 %) | I 1 tilstand |
| GREB1LGREB1 like retinoic acid receptor coactivator | Noen ganger (5–29 %) | I 1 tilstand |
| GTF3C3general transcription factor IIIC subunit 3 | Noen ganger (5–29 %) | I 1 tilstand |
| H4C5H4 clustered histone 5 | Noen ganger (5–29 %) | I 1 tilstand |
| HCCSholocytochrome c synthase | Noen ganger (5–29 %) | I 1 tilstand |
| HDAC8histone deacetylase 8 | Noen ganger (5–29 %) | I 2 tilstander |
| HDAC9histone deacetylase 9 | Noen ganger (5–29 %) | I 1 tilstand |
| HES7hes family bHLH transcription factor 7 | Noen ganger (5–29 %) | I 1 tilstand |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Noen ganger (5–29 %) | I 3 tilstander |
| HOXD13homeobox D13 | Noen ganger (5–29 %) | I 1 tilstand |
| HS6ST1heparan sulfate 6-O-sulfotransferase 1 | Noen ganger (5–29 %) | I 3 tilstander |
| HSPG2heparan sulfate proteoglycan 2 | Noen ganger (5–29 %) | I 2 tilstander |
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Noen ganger (5–29 %) | I 1 tilstand |
| IL17RDinterleukin 17 receptor D | Noen ganger (5–29 %) | I 1 tilstand |
| INPP5Einositol polyphosphate-5-phosphatase E | Noen ganger (5–29 %) | I 1 tilstand |
| INPPL1inositol polyphosphate phosphatase like 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ITGA8integrin subunit alpha 8 | Noen ganger (5–29 %) | I 1 tilstand |
| JARID2jumonji and AT-rich interaction domain containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| JUPjunction plakoglobin | Noen ganger (5–29 %) | I 1 tilstand |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| KAT6Alysine acetyltransferase 6A | Noen ganger (5–29 %) | I 2 tilstander |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Noen ganger (5–29 %) | I 1 tilstand |
| KDF1keratinocyte differentiation factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| KISS1KiSS-1 metastasis suppressor | Noen ganger (5–29 %) | I 1 tilstand |
| KISS1RKISS1 receptor | Noen ganger (5–29 %) | I 1 tilstand |
| KLHL41kelch like family member 41 | Noen ganger (5–29 %) | I 1 tilstand |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Noen ganger (5–29 %) | I 2 tilstander |
| LARS2leucyl-tRNA synthetase 2, mitochondrial | Noen ganger (5–29 %) | I 1 tilstand |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Noen ganger (5–29 %) | I 2 tilstander |
| LFNGLFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| LMBRD1LMBR1 domain containing 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MAD2L2mitotic arrest deficient 2 like 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MAFBMAF bZIP transcription factor B | Noen ganger (5–29 %) | I 1 tilstand |
| MAMLD1mastermind like domain containing 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MAP2K1mitogen-activated protein kinase kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Noen ganger (5–29 %) | I 2 tilstander |
| MAPK1mitogen-activated protein kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MAU2MAU2 sister chromatid cohesion factor | Noen ganger (5–29 %) | I 1 tilstand |
| MEG3maternally expressed 3 | Noen ganger (5–29 %) | I 1 tilstand |
| MEOX1mesenchyme homeobox 1 | Noen ganger (5–29 %) | I 2 tilstander |
| MESP2mesoderm posterior bHLH transcription factor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MKKSMKKS centrosomal shuttling protein | Noen ganger (5–29 %) | I 1 tilstand |
| MYH3myosin heavy chain 3 | Noen ganger (5–29 %) | I 4 tilstander |
| MYL11myosin light chain 11 | Noen ganger (5–29 %) | I 1 tilstand |
| NAE1NEDD8 activating enzyme E1 subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NBNnibrin | Noen ganger (5–29 %) | I 2 tilstander |
| NDNFneuron derived neurotrophic factor | Noen ganger (5–29 %) | I 1 tilstand |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Noen ganger (5–29 %) | I 1 tilstand |
| NELFAnegative elongation factor complex member A | Noen ganger (5–29 %) | I 1 tilstand |
| NFIXnuclear factor I X | Noen ganger (5–29 %) | I 1 tilstand |
| NHLH2nescient helix-loop-helix 2 | Noen ganger (5–29 %) | I 1 tilstand |
| NIPBLNIPBL cohesin loading factor | Noen ganger (5–29 %) | I 2 tilstander |
| NOTCH2notch receptor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| NOTCH3notch receptor 3 | Noen ganger (5–29 %) | I 1 tilstand |
| NPHP1nephrocystin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NSD2nuclear receptor binding SET domain protein 2 | Noen ganger (5–29 %) | I 2 tilstander |
| NSMFNMDA receptor synaptonuclear signaling and neuronal migration factor | Noen ganger (5–29 %) | I 2 tilstander |
| ORC1origin recognition complex subunit 1 | Noen ganger (5–29 %) | I 2 tilstander |
| ORC4origin recognition complex subunit 4 | Noen ganger (5–29 %) | I 1 tilstand |
| ORC6origin recognition complex subunit 6 | Noen ganger (5–29 %) | I 1 tilstand |
| PALB2partner and localizer of BRCA2 | Noen ganger (5–29 %) | I 1 tilstand |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Noen ganger (5–29 %) | I 1 tilstand |
| PAX3paired box 3 | Noen ganger (5–29 %) | I 1 tilstand |
| PDZD8PDZ domain containing 8 | Noen ganger (5–29 %) | I 1 tilstand |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Noen ganger (5–29 %) | I 1 tilstand |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Noen ganger (5–29 %) | I 1 tilstand |
| PLXND1plexin D1 | Noen ganger (5–29 %) | I 1 tilstand |
| POGZpogo transposable element derived with ZNF domain | Noen ganger (5–29 %) | I 1 tilstand |
| POLR2ARNA polymerase II subunit A | Noen ganger (5–29 %) | I 1 tilstand |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Noen ganger (5–29 %) | I 1 tilstand |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Noen ganger (5–29 %) | I 1 tilstand |
| POMKprotein O-mannose kinase | Noen ganger (5–29 %) | I 1 tilstand |
| POMT1protein O-mannosyltransferase 1 | Noen ganger (5–29 %) | I 2 tilstander |
| PORCNporcupine O-acyltransferase | Noen ganger (5–29 %) | I 2 tilstander |
| PROK2prokineticin 2 | Noen ganger (5–29 %) | I 2 tilstander |
| PSAT1phosphoserine aminotransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Noen ganger (5–29 %) | I 1 tilstand |
| PTDSS1phosphatidylserine synthase 1 | Noen ganger (5–29 %) | I 2 tilstander |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Noen ganger (5–29 %) | I 2 tilstander |
| RAD21RAD21 cohesin complex component | Noen ganger (5–29 %) | I 2 tilstander |
| RAD51RAD51 recombinase | Noen ganger (5–29 %) | I 1 tilstand |
| RAD51CRAD51 paralog C | Noen ganger (5–29 %) | I 1 tilstand |
| RAI1retinoic acid induced 1 | Noen ganger (5–29 %) | I 1 tilstand |
| RARBretinoic acid receptor beta | Noen ganger (5–29 %) | I 1 tilstand |
| RBM8ARNA binding motif protein 8A | Noen ganger (5–29 %) | I 2 tilstander |
| RETret proto-oncogene | Noen ganger (5–29 %) | I 1 tilstand |
| REV3LREV3 like, DNA directed polymerase zeta catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| RFWD3ring finger and WD repeat domain 3 | Noen ganger (5–29 %) | I 1 tilstand |
| RIPPLY2ripply transcriptional repressor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| RNU12RNA, U12 small nuclear | Noen ganger (5–29 %) | I 2 tilstander |
| RPL17ribosomal protein L17 | Noen ganger (5–29 %) | I 1 tilstand |
| RTL1retrotransposon Gag like 1 | Noen ganger (5–29 %) | I 1 tilstand |
| RUNX2RUNX family transcription factor 2 | Noen ganger (5–29 %) | I 2 tilstander |
| RXYLT1ribitol xylosyltransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SALL4spalt like transcription factor 4 | Noen ganger (5–29 %) | I 1 tilstand |
| SCUBE3signal peptide, CUB domain and EGF like domain containing 3 | Noen ganger (5–29 %) | I 1 tilstand |
| SEC23ASEC23 homolog A, COPII component | Noen ganger (5–29 %) | I 1 tilstand |
| SEMA3Asemaphorin 3A | Noen ganger (5–29 %) | I 1 tilstand |
| SEMA3Esemaphorin 3E | Noen ganger (5–29 %) | I 1 tilstand |
| SEPTIN9septin 9 | Noen ganger (5–29 %) | I 2 tilstander |
| SIX1SIX homeobox 1 | Noen ganger (5–29 %) | I 3 tilstander |
| SIX5SIX homeobox 5 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC10A7solute carrier family 10 member 7 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC35D1solute carrier family 35 member D1 | Noen ganger (5–29 %) | I 2 tilstander |
| 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 |
| SLX4SLX4 structure-specific endonuclease subunit | Noen ganger (5–29 %) | I 1 tilstand |
| SMAD4SMAD family member 4 | Noen ganger (5–29 %) | I 2 tilstander |
| SMC3structural maintenance of chromosomes 3 | Noen ganger (5–29 %) | I 2 tilstander |
| SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1 | Noen ganger (5–29 %) | I 2 tilstander |
| SMOC1SPARC related modular calcium binding 1 | Noen ganger (5–29 %) | I 2 tilstander |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Noen ganger (5–29 %) | I 1 tilstand |
| SONSON DNA and RNA binding protein | Noen ganger (5–29 %) | I 1 tilstand |
| SOX10SRY-box transcription factor 10 | Noen ganger (5–29 %) | I 1 tilstand |
| SPRY4sprouty RTK signaling antagonist 4 | Noen ganger (5–29 %) | I 2 tilstander |
| SUFUSUFU negative regulator of hedgehog signaling | Noen ganger (5–29 %) | I 1 tilstand |
| TAC3tachykinin precursor 3 | Noen ganger (5–29 %) | I 1 tilstand |
| TACR3tachykinin receptor 3 | Noen ganger (5–29 %) | I 2 tilstander |
| TBC1D24TBC1 domain family member 24 | Noen ganger (5–29 %) | I 2 tilstander |
| TBX6T-box transcription factor 6 | Noen ganger (5–29 %) | I 2 tilstander |
| TCOF1treacle ribosome biogenesis factor 1 | Noen ganger (5–29 %) | I 2 tilstander |
| TELO2telomere maintenance 2 | Noen ganger (5–29 %) | I 2 tilstander |
| TFE3transcription factor binding to IGHM enhancer 3 | Noen ganger (5–29 %) | I 1 tilstand |
| TMCO1transmembrane and coiled-coil domains 1 | Noen ganger (5–29 %) | I 2 tilstander |
| TRIP13thyroid hormone receptor interactor 13 | Noen ganger (5–29 %) | I 2 tilstander |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Noen ganger (5–29 %) | I 1 tilstand |
| TRRAPtransformation/transcription domain associated protein | Noen ganger (5–29 %) | I 1 tilstand |
| TWIST1twist family bHLH transcription factor 1 | Noen ganger (5–29 %) | I 2 tilstander |
| UBE2Tubiquitin conjugating enzyme E2 T | Noen ganger (5–29 %) | I 1 tilstand |
| USP9Xubiquitin specific peptidase 9 X-linked | Noen ganger (5–29 %) | I 2 tilstander |
| WBP4WW domain binding protein 4 | Noen ganger (5–29 %) | I 1 tilstand |
| WDR11WD repeat domain 11 | Noen ganger (5–29 %) | I 2 tilstander |
| WDR26WD repeat domain 26 | Noen ganger (5–29 %) | I 2 tilstander |
| WNT7AWnt family member 7A | Noen ganger (5–29 %) | I 1 tilstand |
| WNT9BWnt family member 9B | Noen ganger (5–29 %) | I 1 tilstand |
| XRCC2X-ray repair cross complementing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| XYLT1xylosyltransferase 1 | Noen ganger (5–29 %) | I 2 tilstander |
| ZFXzinc finger protein X-linked | Noen ganger (5–29 %) | I 1 tilstand |
| ZIC1Zic family zinc finger 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ZIC4Zic family zinc finger 4 | Noen ganger (5–29 %) | I 1 tilstand |
| ZSWIM6zinc finger SWIM-type containing 6 | Noen ganger (5–29 %) | I 1 tilstand |
| ACBD6acyl-CoA binding domain containing 6 | Sjelden (1–4%) | I 1 tilstand |
| ALX4ALX homeobox 4 | Sjelden (1–4%) | I 1 tilstand |
| ANKRD17ankyrin repeat domain 17 | Sjelden (1–4%) | I 1 tilstand |
| ARXaristaless related homeobox | 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 |
| COL9A1collagen type IX alpha 1 chain | Sjelden (1–4%) | I 1 tilstand |
| COL9A2collagen type IX alpha 2 chain | Sjelden (1–4%) | I 1 tilstand |
| COL9A3collagen type IX alpha 3 chain | Sjelden (1–4%) | I 1 tilstand |
| DMXL2Dmx like 2 | Sjelden (1–4%) | I 1 tilstand |
| FOXF1forkhead box F1 | Sjelden (1–4%) | I 1 tilstand |
| GATA3GATA binding protein 3 | 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 |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Sjelden (1–4%) | I 1 tilstand |
| KDM6Blysine demethylase 6B | Sjelden (1–4%) | I 1 tilstand |
| LEMD3LEM domain containing 3 | Sjelden (1–4%) | I 1 tilstand |
| LGI1leucine rich glioma inactivated 1 | Sjelden (1–4%) | I 1 tilstand |
| LOXL3lysyl oxidase like 3 | Sjelden (1–4%) | I 1 tilstand |
| MSX2msh homeobox 2 | 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 |
| 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 |
| 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 |
| SH2B1SH2B adaptor protein 1 | Sjelden (1–4%) | I 1 tilstand |
| SIK1salt inducible kinase 1 | 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 |
| SPINT2serine peptidase inhibitor, Kunitz type 2 | Sjelden (1–4%) | I 1 tilstand |
| TRIM8tripartite motif containing 8 | Sjelden (1–4%) | I 1 tilstand |
| WDR35WD repeat domain 35 | Sjelden (1–4%) | I 2 tilstander |
| ZEB2zinc finger E-box binding homeobox 2 | Sjelden (1–4%) | I 3 tilstander |
| ARHGAP31Rho GTPase activating protein 31 | Ikke registrert | I 1 tilstand |
| ATRATR checkpoint kinase | Ikke registrert | I 1 tilstand |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Ikke registrert | I 1 tilstand |
| CCN2cellular communication network factor 2 | Ikke registrert | I 1 tilstand |
| CENPFcentromere protein F | Ikke registrert | I 1 tilstand |
| CHRNA1cholinergic receptor nicotinic alpha 1 subunit | Ikke registrert | I 1 tilstand |
| CHRNDcholinergic receptor nicotinic delta subunit | Ikke registrert | I 1 tilstand |
| CHST3carbohydrate sulfotransferase 3 | Ikke registrert | I 1 tilstand |
| DONSONDNA replication fork stabilization factor DONSON | Ikke registrert | I 1 tilstand |
| EFNB1ephrin B1 | Ikke registrert | I 1 tilstand |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Ikke registrert | I 1 tilstand |
| EPG5ectopic P-granules 5 autophagy tethering factor | Ikke registrert | I 1 tilstand |
| FAM20CFAM20C golgi associated secretory pathway kinase | Ikke registrert | I 1 tilstand |
| FGF9fibroblast growth factor 9 | Ikke registrert | I 1 tilstand |
| FGFRL1fibroblast growth factor receptor like 1 | Ikke registrert | I 1 tilstand |
| INTUinturned planar cell polarity protein | Ikke registrert | I 1 tilstand |
| KCNJ2potassium inwardly rectifying channel subfamily J member 2 | Ikke registrert | I 1 tilstand |
| KIAA0586KIAA0586 | Ikke registrert | I 1 tilstand |
| LMX1BLIM homeobox transcription factor 1 beta | Ikke registrert | I 1 tilstand |
| MED12mediator complex subunit 12 | Ikke registrert | I 1 tilstand |
| NEBnebulin | Ikke registrert | I 1 tilstand |
| NFASCneurofascin | Ikke registrert | I 1 tilstand |
| NUP107nucleoporin 107 | Ikke registrert | I 2 tilstander |
| PEX2peroxisomal biogenesis factor 2 | Ikke registrert | I 1 tilstand |
| PEX5peroxisomal biogenesis factor 5 | Ikke registrert | I 1 tilstand |
| PEX7peroxisomal biogenesis factor 7 | Ikke registrert | I 1 tilstand |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Ikke registrert | I 1 tilstand |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Ikke registrert | I 1 tilstand |
| RB1RB transcriptional corepressor 1 | Ikke registrert | I 1 tilstand |
| RPL11ribosomal protein L11 | Ikke registrert | I 1 tilstand |
| RPS19ribosomal protein S19 | Ikke registrert | I 1 tilstand |
| SCARF2scavenger receptor class F member 2 | Ikke registrert | I 1 tilstand |
| SF3B2splicing factor 3b subunit 2 | Ikke registrert | I 1 tilstand |
| SMOsmoothened, frizzled class receptor | Ikke registrert | I 1 tilstand |
| STAMBPSTAM binding protein | Ikke registrert | I 1 tilstand |
| TAPT1transmembrane anterior posterior transformation 1 | Ikke registrert | I 1 tilstand |
| TBC1D32TBC1 domain family member 32 | Ikke registrert | I 1 tilstand |
| TBX15T-box transcription factor 15 | Ikke registrert | I 1 tilstand |
| TBX4T-box transcription factor 4 | Ikke registrert | I 1 tilstand |
| TFAP2Atranscription factor AP-2 alpha | Ikke registrert | I 1 tilstand |
| TRAPPC2trafficking protein particle complex subunit 2 | Ikke registrert | I 1 tilstand |
| TXNL4Athioredoxin like 4A | Ikke registrert | I 1 tilstand |
| ZC4H2zinc finger C4H2-type containing | 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
Bredere egenskaper
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.
Én test. En livstid med svar.
Fra 449 $Gratis frakt · Resultater på 6–8 uker