Hvem vi hjælperVores videnskabProdukterResultater
Log indSpørgKom i gangfra 449 $
Træk
Ventriculomegaly
An increase in size of the ventricular system of the brain.
Resumé
- Også kaldet
- Cerebral ventricular dilatation, Dilated cerebral ventricle, Dilated cerebral ventricles, Dilated ventricles, Enlarged cerebral ventricles, Enlarged ventricles, Enlarged ventricular system, Large cerebral ventricles and cisternae, Ventricular dilatation
- Kropssystem
- Abnormality of the nervous system
VentriculomegalyHP:0002119
Hvem vi hjælperVores videnskabProdukterResultater
Log indSpørgKom i gangfra 449 $
Read the genes linked to Ventriculomegaly, and the rest of your genome, with one test.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger
Bestil min Genome Test655 gener knyttet til Ventriculomegaly
Ændringer i disse gener forårsager sjældne tilstande, hvor Ventriculomegaly ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| ADGRG1adhesion G protein-coupled receptor G1 | Altid | I 2 tilstande |
| AP4E1adaptor related protein complex 4 subunit epsilon 1 | Altid | I 1 tilstand |
| APC2APC regulator of Wnt signaling pathway 2 | Altid | I 2 tilstande |
| ASNSasparagine synthetase (glutamine-hydrolyzing) | Altid | I 1 tilstand |
| ATP11AATPase phospholipid transporting 11A | Altid | I 1 tilstand |
| ATP6V1AATPase H+ transporting V1 subunit A | Altid | I 1 tilstand |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Altid | I 2 tilstande |
| BAIAP2BAR/IMD domain containing adaptor protein 2 | Altid | I 1 tilstand |
| BGNbiglycan | Altid | I 1 tilstand |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Altid | I 2 tilstande |
| CCDC88Acoiled-coil and HOOK domain protein 88A | Altid | I 1 tilstand |
| CCDC88Ccoiled-coil and HOOK domain protein 88C | Altid | I 1 tilstand |
| CDC42cell division cycle 42 | Altid | I 2 tilstande |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Altid | I 1 tilstand |
| CHD4chromodomain helicase DNA binding protein 4 | Altid | I 1 tilstand |
| CILK1ciliogenesis associated kinase 1 | Altid | I 2 tilstande |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Altid | I 1 tilstand |
| COL3A1collagen type III alpha 1 chain | Altid | I 1 tilstand |
| COPB2coat protein complex I subunit beta 2 | Altid | I 2 tilstande |
| COX6B1cytochrome c oxidase subunit 6B1 | Altid | I 1 tilstand |
| COX8Acytochrome c oxidase subunit 8A | Altid | I 1 tilstand |
| CPT2carnitine palmitoyltransferase 2 | Altid | I 2 tilstande |
| CSF1Rcolony stimulating factor 1 receptor | Altid | I 1 tilstand |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Altid | I 1 tilstand |
| DAG1dystroglycan 1 | Altid | I 3 tilstande |
| EIF2B4eukaryotic translation initiation factor 2B subunit delta | Altid | I 1 tilstand |
| EIF4A2eukaryotic translation initiation factor 4A2 | Altid | I 1 tilstand |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Altid | I 2 tilstande |
| FAAP100FA core complex associated protein 100 | Altid | I 2 tilstande |
| FANCBFA complementation group B | Altid | I 2 tilstande |
| FBXO28F-box protein 28 | Altid | I 1 tilstand |
| FGFR2fibroblast growth factor receptor 2 | Altid | I 4 tilstande |
| FHfumarate hydratase | Altid | I 2 tilstande |
| FIG4FIG4 phosphoinositide 5-phosphatase | Altid | I 1 tilstand |
| FKRPfukutin related protein | Altid | I 7 tilstande |
| FLVCR2FLVCR choline and putative heme transporter 2 | Altid | I 1 tilstand |
| GET4guided entry of tail-anchored proteins factor 4 | Altid | I 1 tilstand |
| GPSM2G protein signaling modulator 2 | Altid | I 2 tilstande |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Altid | I 1 tilstand |
| GTPBP2GTP binding protein 2 | Altid | I 1 tilstand |
Vis 615 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Altid | I 1 tilstand |
| IBA57iron-sulfur cluster assembly factor IBA57 | Altid | I 1 tilstand |
| IFT140intraflagellar transport 140 | Altid | I 1 tilstand |
| INTS11integrator complex subunit 11 | Altid | I 1 tilstand |
| INTUinturned planar cell polarity protein | Altid | I 1 tilstand |
| ISCA1iron-sulfur cluster assembly 1 | Altid | I 2 tilstande |
| KATNB1katanin regulatory subunit B1 | Altid | I 1 tilstand |
| KIAA0753KIAA0753 | Altid | I 2 tilstande |
| KIDINS220kinase D interacting substrate 220 | Altid | I 2 tilstande |
| L1CAML1 cell adhesion molecule | Altid | I 3 tilstande |
| LIPT1lipoyltransferase 1 | Altid | I 1 tilstand |
| LIPT2lipoyl(octanoyl) transferase 2 | Altid | I 1 tilstand |
| LRRC32leucine rich repeat containing 32 | Altid | I 1 tilstand |
| MAPRE2microtubule associated protein RP/EB family member 2 | Altid | I 1 tilstand |
| MAST1microtubule associated serine/threonine kinase 1 | Altid | I 1 tilstand |
| MFSD2AMFSD2 lysolipid transporter A, lysophospholipid | Altid | I 2 tilstande |
| MINPP1multiple inositol-polyphosphate phosphatase 1 | Altid | I 1 tilstand |
| MKS1MKS transition zone complex subunit 1 | Altid | I 1 tilstand |
| MPDZmultiple PDZ domain crumbs cell polarity complex component | Altid | I 1 tilstand |
| MTORmechanistic target of rapamycin kinase | Altid | I 3 tilstande |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Altid | I 1 tilstand |
| NADK2NAD kinase 2, mitochondrial | Altid | I 2 tilstande |
| NDE1nudE neurodevelopment protein 1 | Altid | I 2 tilstande |
| NDUFA8NADH:ubiquinone oxidoreductase subunit A8 | Altid | I 1 tilstand |
| NDUFS8NADH:ubiquinone oxidoreductase core subunit S8 | Altid | I 1 tilstand |
| NFIAnuclear factor I A | Altid | I 2 tilstande |
| NSD1nuclear receptor binding SET domain protein 1 | Altid | I 2 tilstande |
| NUP188nucleoporin 188 | Altid | I 1 tilstand |
| PEX1peroxisomal biogenesis factor 1 | Altid | I 1 tilstand |
| PHGDHphosphoglycerate dehydrogenase | Altid | I 2 tilstande |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Altid | I 1 tilstand |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Altid | I 1 tilstand |
| PIK3R2phosphoinositide-3-kinase regulatory subunit 2 | Altid | I 1 tilstand |
| PNKPpolynucleotide kinase 3'-phosphatase | Altid | I 1 tilstand |
| POGZpogo transposable element derived with ZNF domain | Altid | I 1 tilstand |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Altid | I 2 tilstande |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Altid | I 1 tilstand |
| PSAPprosaposin | Altid | I 1 tilstand |
| PTBP1polypyrimidine tract binding protein 1 | Altid | I 1 tilstand |
| RAB11BRAB11B, member RAS oncogene family | Altid | I 1 tilstand |
| RAD21RAD21 cohesin complex component | Altid | I 3 tilstande |
| RAP1BRAP1B, member of RAS oncogene family | Altid | I 1 tilstand |
| RNU2-2RNA, U2 small nuclear 2 | Altid | I 1 tilstand |
| RNU5B-1RNA, U5B small nuclear 1 | Altid | I 1 tilstand |
| RPS6KA3ribosomal protein S6 kinase A3 | Altid | I 2 tilstande |
| SEC31ASEC31 homolog A, COPII component | Altid | I 1 tilstand |
| SHQ1SHQ1, H/ACA ribonucleoprotein assembly factor | Altid | I 1 tilstand |
| SLC31A1solute carrier family 31 member 1 | Altid | I 1 tilstand |
| SNIP1Smad nuclear interacting protein 1 | Altid | I 1 tilstand |
| SPOUT1SPOUT domain containing methyltransferase 1 | Altid | I 1 tilstand |
| SV2Asynaptic vesicle glycoprotein 2A | Altid | I 1 tilstand |
| TBCKTBC1 domain containing kinase | Altid | I 2 tilstande |
| TBK1TANK binding kinase 1 | Altid | I 1 tilstand |
| TMX2thioredoxin related transmembrane protein 2 | Altid | I 1 tilstand |
| TRAPPC12trafficking protein particle complex subunit 12 | Altid | I 2 tilstande |
| TRAPPC6Btrafficking protein particle complex subunit 6B | Altid | I 1 tilstand |
| TRIM71tripartite motif containing 71 | Altid | I 1 tilstand |
| TUBA1Atubulin alpha 1a | Altid | I 3 tilstande |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Altid | I 2 tilstande |
| ZIC2Zic family zinc finger 2 | Altid | I 1 tilstand |
| AFF3ALF transcription elongation factor 3 | Meget ofte (80–99 %) | I 1 tilstand |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Meget ofte (80–99 %) | I 2 tilstande |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Meget ofte (80–99 %) | I 1 tilstand |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Meget ofte (80–99 %) | I 2 tilstande |
| BUB3BUB3 mitotic checkpoint protein | Meget ofte (80–99 %) | I 1 tilstand |
| CASZ1castor zinc finger 1 | Meget ofte (80–99 %) | I 1 tilstand |
| CCND2cyclin D2 | Meget ofte (80–99 %) | I 1 tilstand |
| CEP57centrosomal protein 57 | Meget ofte (80–99 %) | I 1 tilstand |
| COL4A1collagen type IV alpha 1 chain | Meget ofte (80–99 %) | I 1 tilstand |
| CRPPACDP-L-ribitol pyrophosphorylase A | Meget ofte (80–99 %) | I 3 tilstande |
| DHCR2424-dehydrocholesterol reductase | Meget ofte (80–99 %) | I 2 tilstande |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Meget ofte (80–99 %) | I 1 tilstand |
| FKTNfukutin | Meget ofte (80–99 %) | I 4 tilstande |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Meget ofte (80–99 %) | I 1 tilstand |
| HRASHRas proto-oncogene, GTPase | Meget ofte (80–99 %) | I 2 tilstande |
| HSPG2heparan sulfate proteoglycan 2 | Meget ofte (80–99 %) | I 1 tilstand |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Meget ofte (80–99 %) | I 1 tilstand |
| KRASKRas proto-oncogene, GTPase | Meget ofte (80–99 %) | I 2 tilstande |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Meget ofte (80–99 %) | I 4 tilstande |
| LUZP1leucine zipper protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| MAGEL2MAGE family member L2 | Meget ofte (80–99 %) | I 5 tilstande |
| MMP23Bmatrix metallopeptidase 23B | Meget ofte (80–99 %) | I 1 tilstand |
| NDNnecdin, MAGE family member | Meget ofte (80–99 %) | I 3 tilstande |
| NOTCH2NLCnotch 2 N-terminal like C | Meget ofte (80–99 %) | I 1 tilstand |
| NRASNRAS proto-oncogene, GTPase | Meget ofte (80–99 %) | I 1 tilstand |
| OCA2OCA2 melanosomal transmembrane protein | Meget ofte (80–99 %) | I 3 tilstande |
| OPHN1oligophrenin 1 | Meget ofte (80–99 %) | I 2 tilstande |
| OTUD5OTU deubiquitinase 5 | Meget ofte (80–99 %) | I 1 tilstand |
| PDPNpodoplanin | Meget ofte (80–99 %) | I 1 tilstand |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Meget ofte (80–99 %) | I 4 tilstande |
| POMKprotein O-mannose kinase | Meget ofte (80–99 %) | I 2 tilstande |
| POMT1protein O-mannosyltransferase 1 | Meget ofte (80–99 %) | I 5 tilstande |
| POMT2protein O-mannosyltransferase 2 | Meget ofte (80–99 %) | I 7 tilstande |
| PRDM16PR/SET domain 16 | Meget ofte (80–99 %) | I 1 tilstand |
| PRKCZprotein kinase C zeta | Meget ofte (80–99 %) | I 1 tilstand |
| REREarginine-glutamic acid dipeptide repeats | Meget ofte (80–99 %) | I 3 tilstande |
| RXYLT1ribitol xylosyltransferase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| SKISKI proto-oncogene | Meget ofte (80–99 %) | I 2 tilstande |
| SNAPINSNAP associated protein | Meget ofte (80–99 %) | I 1 tilstand |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Meget ofte (80–99 %) | I 3 tilstande |
| SPENspen family transcriptional repressor | Meget ofte (80–99 %) | I 1 tilstand |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Meget ofte (80–99 %) | I 1 tilstand |
| TREM2triggering receptor expressed on myeloid cells 2 | Meget ofte (80–99 %) | I 1 tilstand |
| TRIP13thyroid hormone receptor interactor 13 | Meget ofte (80–99 %) | I 1 tilstand |
| TYROBPtransmembrane immune signaling adaptor TYROBP | Meget ofte (80–99 %) | I 1 tilstand |
| UBE4Bubiquitination factor E4B | Meget ofte (80–99 %) | I 1 tilstand |
| ZNF335zinc finger protein 335 | Meget ofte (80–99 %) | I 1 tilstand |
| ACDACD shelterin complex subunit and telomerase recruitment factor | Ofte (30–79 %) | I 1 tilstand |
| ACTA2actin alpha 2, smooth muscle | Ofte (30–79 %) | I 1 tilstand |
| ADARadenosine deaminase RNA specific | Ofte (30–79 %) | I 1 tilstand |
| AHDC1AT-hook DNA binding motif containing 1 | Ofte (30–79 %) | I 1 tilstand |
| AKT3AKT serine/threonine kinase 3 | Ofte (30–79 %) | I 2 tilstande |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Ofte (30–79 %) | I 1 tilstand |
| AMPD2adenosine monophosphate deaminase 2 | Ofte (30–79 %) | I 1 tilstand |
| ANKLE2ankyrin repeat and LEM domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| ANKRD11ankyrin repeat domain 11 | Ofte (30–79 %) | I 1 tilstand |
| ANO1anoctamin 1 | Ofte (30–79 %) | I 1 tilstand |
| AP4M1adaptor related protein complex 4 subunit mu 1 | Ofte (30–79 %) | I 1 tilstand |
| ARXaristaless related homeobox | Ofte (30–79 %) | I 3 tilstande |
| ASPMassembly factor for spindle microtubules | Ofte (30–79 %) | I 2 tilstande |
| ATP1A1ATPase Na+/K+ transporting subunit alpha 1 | Ofte (30–79 %) | I 1 tilstand |
| BORCS5BLOC-1 related complex subunit 5 | Ofte (30–79 %) | I 1 tilstand |
| BRF1BRF1 general transcription factor IIIB subunit | Ofte (30–79 %) | I 2 tilstande |
| CC2D2Acoiled-coil and C2 domain containing 2A | Ofte (30–79 %) | I 1 tilstand |
| CCDC22CCC complex scaffolding subunit CCDC22 | Ofte (30–79 %) | I 1 tilstand |
| CDK5RAP2CDK5 regulatory subunit associated protein 2 | Ofte (30–79 %) | I 1 tilstand |
| CDK6cyclin dependent kinase 6 | Ofte (30–79 %) | I 1 tilstand |
| CENPEcentromere protein E | Ofte (30–79 %) | I 1 tilstand |
| CEP135centrosomal protein 135 | Ofte (30–79 %) | I 1 tilstand |
| CEP152centrosomal protein 152 | Ofte (30–79 %) | I 1 tilstand |
| CITcitron rho-interacting serine/threonine kinase | Ofte (30–79 %) | I 2 tilstande |
| COG4component of oligomeric golgi complex 4 | Ofte (30–79 %) | I 1 tilstand |
| COG8component of oligomeric golgi complex 8 | Ofte (30–79 %) | I 2 tilstande |
| COL18A1collagen type XVIII alpha 1 chain | Ofte (30–79 %) | I 1 tilstand |
| COX16cytochrome c oxidase assembly factor COX16 | Ofte (30–79 %) | I 1 tilstand |
| CPAPcentrosome assembly and centriole elongation protein | Ofte (30–79 %) | I 1 tilstand |
| CRB2crumbs cell polarity complex component 2 | Ofte (30–79 %) | I 1 tilstand |
| CSPP1centrosome and spindle pole associated protein 1 | Ofte (30–79 %) | I 1 tilstand |
| CTCFCCCTC-binding factor | Ofte (30–79 %) | I 2 tilstande |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| DDX3XDEAD-box helicase 3 X-linked | Ofte (30–79 %) | I 3 tilstande |
| DENND5ADENN domain containing 5A | Ofte (30–79 %) | I 1 tilstand |
| DHCR77-dehydrocholesterol reductase | Ofte (30–79 %) | I 1 tilstand |
| DHRS3dehydrogenase/reductase 3 | Ofte (30–79 %) | I 1 tilstand |
| DHX30DExH-box helicase 30 | Ofte (30–79 %) | I 1 tilstand |
| DHX9DExH-box helicase 9 | Ofte (30–79 %) | I 1 tilstand |
| DIAPH1diaphanous related formin 1 | Ofte (30–79 %) | I 1 tilstand |
| DKC1dyskerin pseudouridine synthase 1 | Ofte (30–79 %) | I 1 tilstand |
| DLL1delta like canonical Notch ligand 1 | Ofte (30–79 %) | I 1 tilstand |
| DMPKDM1 protein kinase | Ofte (30–79 %) | I 1 tilstand |
| DNM1dynamin 1 | Ofte (30–79 %) | I 1 tilstand |
| DPYSL5dihydropyrimidinase like 5 | Ofte (30–79 %) | I 1 tilstand |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Ofte (30–79 %) | I 3 tilstande |
| EML1EMAP like 1 | Ofte (30–79 %) | I 1 tilstand |
| EOMESeomesodermin | Ofte (30–79 %) | I 1 tilstand |
| ERCC5ERCC excision repair 5, endonuclease | Ofte (30–79 %) | I 1 tilstand |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Ofte (30–79 %) | I 2 tilstande |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Ofte (30–79 %) | I 1 tilstand |
| FBXL4F-box and leucine rich repeat protein 4 | Ofte (30–79 %) | I 1 tilstand |
| FGFR1fibroblast growth factor receptor 1 | Ofte (30–79 %) | I 1 tilstand |
| FGFR3fibroblast growth factor receptor 3 | Ofte (30–79 %) | I 3 tilstande |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Ofte (30–79 %) | I 1 tilstand |
| GLB1galactosidase beta 1 | Ofte (30–79 %) | I 2 tilstande |
| GLI3GLI family zinc finger 3 | Ofte (30–79 %) | I 1 tilstand |
| GOSR2golgi SNAP receptor complex member 2 | Ofte (30–79 %) | I 1 tilstand |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| HDAC4histone deacetylase 4 | Ofte (30–79 %) | I 1 tilstand |
| HDAC8histone deacetylase 8 | Ofte (30–79 %) | I 2 tilstande |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Ofte (30–79 %) | I 2 tilstande |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Ofte (30–79 %) | I 1 tilstand |
| HIBCH3-hydroxyisobutyryl-CoA hydrolase | Ofte (30–79 %) | I 1 tilstand |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Ofte (30–79 %) | I 1 tilstand |
| HNRNPUheterogeneous nuclear ribonucleoprotein U | Ofte (30–79 %) | I 2 tilstande |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Ofte (30–79 %) | I 1 tilstand |
| IFIH1interferon induced with helicase C domain 1 | Ofte (30–79 %) | I 1 tilstand |
| IFT43intraflagellar transport 43 | Ofte (30–79 %) | I 1 tilstand |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Ofte (30–79 %) | I 1 tilstand |
| ITGAVintegrin subunit alpha V | Ofte (30–79 %) | I 1 tilstand |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| KAT8lysine acetyltransferase 8 | Ofte (30–79 %) | I 1 tilstand |
| KCNK4potassium two pore domain channel subfamily K member 4 | Ofte (30–79 %) | I 1 tilstand |
| KDM6Alysine demethylase 6A | Ofte (30–79 %) | I 1 tilstand |
| KIAA0586KIAA0586 | Ofte (30–79 %) | I 2 tilstande |
| KIF14kinesin family member 14 | Ofte (30–79 %) | I 1 tilstand |
| KIF26Akinesin family member 26A | Ofte (30–79 %) | I 1 tilstand |
| KMT2Dlysine methyltransferase 2D | Ofte (30–79 %) | I 1 tilstand |
| KNL1kinetochore scaffold 1 | Ofte (30–79 %) | I 1 tilstand |
| KNSTRNkinetochore localized astrin (SPAG5) binding protein | Ofte (30–79 %) | I 2 tilstande |
| KPNA3karyopherin subunit alpha 3 | Ofte (30–79 %) | I 1 tilstand |
| LMNB1lamin B1 | Ofte (30–79 %) | I 1 tilstand |
| LMNB2lamin B2 | Ofte (30–79 %) | I 2 tilstande |
| LONP1lon peptidase 1, mitochondrial | Ofte (30–79 %) | I 2 tilstande |
| LSM11LSM11, U7 small nuclear RNA associated | Ofte (30–79 %) | I 1 tilstand |
| MAFMAF bZIP transcription factor | Ofte (30–79 %) | I 1 tilstand |
| MAN2C1mannosidase alpha class 2C member 1 | Ofte (30–79 %) | I 1 tilstand |
| MARS2methionyl-tRNA synthetase 2, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| MAXMYC associated transcriptional regulator X | Ofte (30–79 %) | I 1 tilstand |
| MCM7minichromosome maintenance complex component 7 | Ofte (30–79 %) | I 1 tilstand |
| MCPH1microcephalin 1 | Ofte (30–79 %) | I 1 tilstand |
| MED12mediator complex subunit 12 | Ofte (30–79 %) | I 1 tilstand |
| MED25mediator complex subunit 25 | Ofte (30–79 %) | I 1 tilstand |
| MEF2Cmyocyte enhancer factor 2C | Ofte (30–79 %) | I 2 tilstande |
| METTL5methyltransferase 5, N6-adenosine | Ofte (30–79 %) | I 1 tilstand |
| MID1midline 1 | Ofte (30–79 %) | I 1 tilstand |
| MKRN3makorin ring finger protein 3 | Ofte (30–79 %) | I 1 tilstand |
| MPDU1mannose-P-dolichol utilization defect 1 | Ofte (30–79 %) | I 2 tilstande |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Ofte (30–79 %) | I 1 tilstand |
| NAE1NEDD8 activating enzyme E1 subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| NAXENAD(P)HX epimerase | Ofte (30–79 %) | I 1 tilstand |
| NCAPD3non-SMC condensin II complex subunit D3 | Ofte (30–79 %) | I 1 tilstand |
| NCAPG2non-SMC condensin II complex subunit G2 | Ofte (30–79 %) | I 1 tilstand |
| NEXMIFneurite extension and migration factor | Ofte (30–79 %) | I 1 tilstand |
| NFIXnuclear factor I X | Ofte (30–79 %) | I 4 tilstande |
| NPAP1nuclear pore associated protein 1 | Ofte (30–79 %) | I 1 tilstand |
| NUP37nucleoporin 37 | Ofte (30–79 %) | I 1 tilstand |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Ofte (30–79 %) | I 2 tilstande |
| OFD1OFD1 centriole and centriolar satellite protein | Ofte (30–79 %) | I 2 tilstande |
| OGDHoxoglutarate dehydrogenase | Ofte (30–79 %) | I 1 tilstand |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Ofte (30–79 %) | I 1 tilstand |
| OTUD6BOTU deubiquitinase 6B | Ofte (30–79 %) | I 2 tilstande |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Ofte (30–79 %) | I 3 tilstande |
| PARNpoly(A)-specific ribonuclease | Ofte (30–79 %) | I 1 tilstand |
| PCDH19protocadherin 19 | Ofte (30–79 %) | I 1 tilstand |
| PDCD6IPprogrammed cell death 6 interacting protein | Ofte (30–79 %) | I 1 tilstand |
| PDE2Aphosphodiesterase 2A | Ofte (30–79 %) | I 1 tilstand |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Ofte (30–79 %) | I 2 tilstande |
| PHACTR1phosphatase and actin regulator 1 | Ofte (30–79 %) | I 1 tilstand |
| PHC1polyhomeotic homolog 1 | Ofte (30–79 %) | I 1 tilstand |
| PI4K2Aphosphatidylinositol 4-kinase type 2 alpha | Ofte (30–79 %) | I 1 tilstand |
| PI4KAphosphatidylinositol 4-kinase alpha | Ofte (30–79 %) | I 1 tilstand |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Ofte (30–79 %) | I 2 tilstande |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Ofte (30–79 %) | I 1 tilstand |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Ofte (30–79 %) | I 3 tilstande |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Ofte (30–79 %) | I 2 tilstande |
| PLAAphospholipase A2 activating protein | Ofte (30–79 %) | I 2 tilstande |
| PLCH1phospholipase C eta 1 | Ofte (30–79 %) | I 1 tilstand |
| PLGplasminogen | Ofte (30–79 %) | I 1 tilstand |
| PLOD3procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | Ofte (30–79 %) | I 1 tilstand |
| POLR1ARNA polymerase I subunit A | Ofte (30–79 %) | I 2 tilstande |
| POLR2ARNA polymerase II subunit A | Ofte (30–79 %) | I 1 tilstand |
| PPP2R1Aprotein phosphatase 2 scaffold subunit Aalpha | Ofte (30–79 %) | I 2 tilstande |
| PRNPprion protein (Kanno blood group) | Ofte (30–79 %) | I 1 tilstand |
| PSAT1phosphoserine aminotransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| PTCH1patched 1 | Ofte (30–79 %) | I 1 tilstand |
| PTDSS1phosphatidylserine synthase 1 | Ofte (30–79 %) | I 1 tilstand |
| PUS3pseudouridine synthase 3 | Ofte (30–79 %) | I 2 tilstande |
| PUS7pseudouridine synthase 7 | Ofte (30–79 %) | I 1 tilstand |
| PWAR1Prader Willi/Angelman region RNA 1 | Ofte (30–79 %) | I 1 tilstand |
| PWRN1Prader-Willi region non-protein coding RNA 1 | Ofte (30–79 %) | I 1 tilstand |
| PYCR2pyrroline-5-carboxylate reductase 2 | Ofte (30–79 %) | I 1 tilstand |
| RAB18RAB18, member RAS oncogene family | Ofte (30–79 %) | I 1 tilstand |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| RAI1retinoic acid induced 1 | Ofte (30–79 %) | I 2 tilstande |
| RNASEH2Aribonuclease H2 subunit A | Ofte (30–79 %) | I 2 tilstande |
| RNASEH2Bribonuclease H2 subunit B | Ofte (30–79 %) | I 1 tilstand |
| RNASEH2Cribonuclease H2 subunit C | Ofte (30–79 %) | I 1 tilstand |
| RNF125ring finger protein 125 | Ofte (30–79 %) | I 1 tilstand |
| RNF213ring finger protein 213 | Ofte (30–79 %) | I 1 tilstand |
| RNU7-1RNA, U7 small nuclear 1 | Ofte (30–79 %) | I 1 tilstand |
| RTEL1regulator of telomere elongation helicase 1 | Ofte (30–79 %) | I 1 tilstand |
| RTTNrotatin | Ofte (30–79 %) | I 1 tilstand |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Ofte (30–79 %) | I 1 tilstand |
| SARS1seryl-tRNA synthetase 1 | Ofte (30–79 %) | I 1 tilstand |
| SASS6SAS-6 centriolar assembly protein | Ofte (30–79 %) | I 1 tilstand |
| SCO2synthesis of cytochrome C oxidase 2 | Ofte (30–79 %) | I 1 tilstand |
| SETBP1SET binding protein 1 | Ofte (30–79 %) | I 2 tilstande |
| SHPKsedoheptulokinase | Ofte (30–79 %) | I 1 tilstand |
| SIM1SIM bHLH transcription factor 1 | Ofte (30–79 %) | I 1 tilstand |
| SIN3ASIN3 transcription regulator family member A | Ofte (30–79 %) | I 2 tilstande |
| SIN3BSIN3 transcription regulator family member B | Ofte (30–79 %) | I 1 tilstand |
| SLC12A6solute carrier family 12 member 6 | Ofte (30–79 %) | I 1 tilstand |
| SLC25A19solute carrier family 25 member 19 | Ofte (30–79 %) | I 1 tilstand |
| SLC9A6solute carrier family 9 member A6 | Ofte (30–79 %) | I 1 tilstand |
| SMOsmoothened, frizzled class receptor | Ofte (30–79 %) | I 2 tilstande |
| SNORD115-1small nucleolar RNA, C/D box 115-1 | Ofte (30–79 %) | I 1 tilstand |
| SNORD116-1small nucleolar RNA, C/D box 116-1 | Ofte (30–79 %) | I 1 tilstand |
| SONSON DNA and RNA binding protein | Ofte (30–79 %) | I 2 tilstande |
| STILSTIL centriolar assembly protein | Ofte (30–79 %) | I 1 tilstand |
| STRADASTE20 related adaptor alpha | Ofte (30–79 %) | I 2 tilstande |
| TAF1TATA-box binding protein associated factor 1 | Ofte (30–79 %) | I 1 tilstand |
| TAF13TATA-box binding protein associated factor 13 | Ofte (30–79 %) | I 1 tilstand |
| TCP1t-complex 1 | Ofte (30–79 %) | I 1 tilstand |
| TERCtelomerase RNA component | Ofte (30–79 %) | I 1 tilstand |
| TERTtelomerase reverse transcriptase | Ofte (30–79 %) | I 1 tilstand |
| THOC2THO complex subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| THOC6THO complex subunit 6 | Ofte (30–79 %) | I 1 tilstand |
| TIMMDC1translocase of inner mitochondrial membrane domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| TINF2TERF1 interacting nuclear factor 2 | Ofte (30–79 %) | I 1 tilstand |
| TMCO1transmembrane and coiled-coil domains 1 | Ofte (30–79 %) | I 1 tilstand |
| TMTC3transmembrane O-mannosyltransferase targeting cadherins 3 | Ofte (30–79 %) | I 1 tilstand |
| TOE1target of EGR1, exonuclease | Ofte (30–79 %) | I 1 tilstand |
| TPRKBTP53RK binding protein | Ofte (30–79 %) | I 1 tilstand |
| TRA2Btransformer 2 beta homolog | Ofte (30–79 %) | I 1 tilstand |
| TRAIPTRAF interacting protein | Ofte (30–79 %) | I 1 tilstand |
| TRAPPC10trafficking protein particle complex subunit 10 | Ofte (30–79 %) | I 1 tilstand |
| TRAPPC14trafficking protein particle complex subunit 14 | Ofte (30–79 %) | I 1 tilstand |
| TREX1three prime repair exonuclease 1 | Ofte (30–79 %) | I 1 tilstand |
| TSFMTs translation elongation factor, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| TUBB2Atubulin beta 2A class IIa | Ofte (30–79 %) | I 1 tilstand |
| TUBB2Btubulin beta 2B class IIb | Ofte (30–79 %) | I 1 tilstand |
| TUBB3tubulin beta 3 class III | Ofte (30–79 %) | I 1 tilstand |
| USP9Xubiquitin specific peptidase 9 X-linked | Ofte (30–79 %) | I 2 tilstande |
| VPS11VPS11 core subunit of CORVET and HOPS complexes | Ofte (30–79 %) | I 2 tilstande |
| VPS35LVPS35 endosomal protein sorting factor like | Ofte (30–79 %) | I 1 tilstand |
| VPS53VPS53 subunit of GARP complex | Ofte (30–79 %) | I 1 tilstand |
| VSX1visual system homeobox 1 | Ofte (30–79 %) | I 1 tilstand |
| WARS1tryptophanyl-tRNA synthetase 1 | Ofte (30–79 %) | I 1 tilstand |
| WASF1WASP family member 1 | Ofte (30–79 %) | I 1 tilstand |
| WASHC5WASH complex subunit 5 | Ofte (30–79 %) | I 1 tilstand |
| WDR45BWD repeat domain 45B | Ofte (30–79 %) | I 1 tilstand |
| WDR62WD repeat domain 62 | Ofte (30–79 %) | I 1 tilstand |
| YARS1tyrosyl-tRNA synthetase 1 | Ofte (30–79 %) | I 1 tilstand |
| ZBTB11zinc finger and BTB domain containing 11 | Ofte (30–79 %) | I 1 tilstand |
| ZBTB20zinc finger and BTB domain containing 20 | Ofte (30–79 %) | I 1 tilstand |
| ZNHIT3zinc finger HIT-type containing 3 | Ofte (30–79 %) | I 1 tilstand |
| ZSWIM6zinc finger SWIM-type containing 6 | Ofte (30–79 %) | I 2 tilstande |
| AARS1alanyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ABCD1ATP binding cassette subfamily D member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ACBD6acyl-CoA binding domain containing 6 | Nogle gange (5–29 %) | I 1 tilstand |
| ACP5acid phosphatase 5, tartrate resistant | Nogle gange (5–29 %) | I 1 tilstand |
| ACTBactin beta | Nogle gange (5–29 %) | I 1 tilstand |
| ACTG1actin gamma 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ADAT3adenosine deaminase tRNA specific 3 | Nogle gange (5–29 %) | I 1 tilstand |
| ADNPactivity dependent neuroprotector homeobox | Nogle gange (5–29 %) | I 2 tilstande |
| AHCYadenosylhomocysteinase | Nogle gange (5–29 %) | I 1 tilstand |
| ALDH7A1aldehyde dehydrogenase 7 family member A1 | Nogle gange (5–29 %) | I 1 tilstand |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| ARID1BAT-rich interaction domain 1B | Nogle gange (5–29 %) | I 1 tilstand |
| ARMC9armadillo repeat containing 9 | Nogle gange (5–29 %) | I 1 tilstand |
| ASXL1ASXL transcriptional regulator 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ASXL2ASXL transcriptional regulator 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Nogle gange (5–29 %) | I 1 tilstand |
| B3GLCTbeta 3-glucosyltransferase | Nogle gange (5–29 %) | I 2 tilstande |
| BCAP31B cell receptor associated protein 31 | Nogle gange (5–29 %) | I 1 tilstand |
| BCL11ABCL11 transcription factor A | Nogle gange (5–29 %) | I 1 tilstand |
| BMP2bone morphogenetic protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| BRCA1BRCA1 DNA repair associated | Nogle gange (5–29 %) | I 1 tilstand |
| BRCA2BRCA2 DNA repair associated | Nogle gange (5–29 %) | I 1 tilstand |
| BRD4bromodomain containing 4 | Nogle gange (5–29 %) | I 1 tilstand |
| BRIP1BRCA1 interacting DNA helicase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| BRPF1bromodomain and PHD finger containing 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CARS1cysteinyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CDK10cyclin dependent kinase 10 | Nogle gange (5–29 %) | I 1 tilstand |
| CELF2CUGBP Elav-like family member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| CEP120centrosomal protein 120 | Nogle gange (5–29 %) | I 1 tilstand |
| CHD8chromodomain helicase DNA binding protein 8 | Nogle gange (5–29 %) | I 1 tilstand |
| CHST14carbohydrate sulfotransferase 14 | Nogle gange (5–29 %) | I 2 tilstande |
| CLCN4Cl-/H+ antiporter 4 | Nogle gange (5–29 %) | I 1 tilstand |
| COG6component of oligomeric golgi complex 6 | Nogle gange (5–29 %) | I 1 tilstand |
| CTDP1CTD phosphatase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CTNNB1catenin beta 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CTSFcathepsin F | Nogle gange (5–29 %) | I 1 tilstand |
| D2HGDHD-2-hydroxyglutarate dehydrogenase | Nogle gange (5–29 %) | I 1 tilstand |
| DBR1debranching RNA lariats 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DCHS1dachsous cadherin-related 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DNA2DNA replication helicase/nuclease 2 | Nogle gange (5–29 %) | I 1 tilstand |
| DNMT3ADNA methyltransferase 3 alpha | Nogle gange (5–29 %) | I 2 tilstande |
| DOHHdeoxyhypusine hydroxylase | Nogle gange (5–29 %) | I 1 tilstand |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Nogle gange (5–29 %) | I 1 tilstand |
| DSEdermatan sulfate epimerase | Nogle gange (5–29 %) | I 1 tilstand |
| DSTdystonin | Nogle gange (5–29 %) | I 1 tilstand |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DYNC2I1dynein 2 intermediate chain 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DYNC2I2dynein 2 intermediate chain 2 | Nogle gange (5–29 %) | I 1 tilstand |
| EBPEBP cholestenol delta-isomerase | Nogle gange (5–29 %) | I 1 tilstand |
| EHMT1euchromatic histone lysine methyltransferase 1 | Nogle gange (5–29 %) | I 2 tilstande |
| EMG1EMG1 N1-specific pseudouridine methyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Nogle gange (5–29 %) | I 1 tilstand |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Nogle gange (5–29 %) | I 2 tilstande |
| EXT1exostosin glycosyltransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| EXTL3exostosin like glycosyltransferase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| FANCAFA complementation group A | Nogle gange (5–29 %) | I 1 tilstand |
| FANCCFA complementation group C | Nogle gange (5–29 %) | I 1 tilstand |
| FANCD2FA complementation group D2 | Nogle gange (5–29 %) | I 1 tilstand |
| FANCEFA complementation group E | Nogle gange (5–29 %) | I 1 tilstand |
| FANCFFA complementation group F | Nogle gange (5–29 %) | I 1 tilstand |
| FANCGFA complementation group G | Nogle gange (5–29 %) | I 1 tilstand |
| FANCIFA complementation group I | Nogle gange (5–29 %) | I 1 tilstand |
| FANCLFA complementation group L | Nogle gange (5–29 %) | I 1 tilstand |
| FANCMFA complementation group M | Nogle gange (5–29 %) | I 1 tilstand |
| FAT4FAT atypical cadherin 4 | Nogle gange (5–29 %) | I 1 tilstand |
| FBN1fibrillin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| FBP1fructose-bisphosphatase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| FBXO22F-box protein 22 | Nogle gange (5–29 %) | I 1 tilstand |
| FOXF1forkhead box F1 | Nogle gange (5–29 %) | I 1 tilstand |
| GBA1glucosylceramidase beta 1 | Nogle gange (5–29 %) | I 2 tilstande |
| GCDHglutaryl-CoA dehydrogenase | Nogle gange (5–29 %) | I 1 tilstand |
| GFM1G elongation factor mitochondrial 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GMPPBGDP-mannose pyrophosphorylase B | Nogle gange (5–29 %) | I 2 tilstande |
| GNB2G protein subunit beta 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GRIK2glutamate ionotropic receptor kainate type subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GTF2E2general transcription factor IIE subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GTF2H5general transcription factor IIH subunit 5 | Nogle gange (5–29 %) | I 1 tilstand |
| H1-4H1.4 linker histone, cluster member | Nogle gange (5–29 %) | I 1 tilstand |
| H3-3AH3.3 histone A | Nogle gange (5–29 %) | I 1 tilstand |
| HK1hexokinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| HTThuntingtin | Nogle gange (5–29 %) | I 1 tilstand |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| IDH1isocitrate dehydrogenase (NADP(+)) 1 | Nogle gange (5–29 %) | I 1 tilstand |
| IDH2isocitrate dehydrogenase (NADP(+)) 2 | Nogle gange (5–29 %) | I 1 tilstand |
| IFT172intraflagellar transport 172 | Nogle gange (5–29 %) | I 1 tilstand |
| IFT80intraflagellar transport 80 | Nogle gange (5–29 %) | I 1 tilstand |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Nogle gange (5–29 %) | I 1 tilstand |
| KDM2Blysine demethylase 2B | Nogle gange (5–29 %) | I 1 tilstand |
| KIFBPkinesin family binding protein | Nogle gange (5–29 %) | I 1 tilstand |
| KMT2Clysine methyltransferase 2C | Nogle gange (5–29 %) | I 1 tilstand |
| KMT5Blysine methyltransferase 5B | Nogle gange (5–29 %) | I 1 tilstand |
| KPTNkaptin, actin binding protein | Nogle gange (5–29 %) | I 1 tilstand |
| KRT14keratin 14 | Nogle gange (5–29 %) | I 1 tilstand |
| KRT5keratin 5 | Nogle gange (5–29 %) | I 1 tilstand |
| LGI1leucine rich glioma inactivated 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MAD2L2mitotic arrest deficient 2 like 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MAGmyelin associated glycoprotein | Nogle gange (5–29 %) | I 1 tilstand |
| MAU2MAU2 sister chromatid cohesion factor | Nogle gange (5–29 %) | I 2 tilstande |
| MED16mediator complex subunit 16 | Nogle gange (5–29 %) | I 1 tilstand |
| MPLKIPM-phase specific PLK1 interacting protein | Nogle gange (5–29 %) | I 1 tilstand |
| MTRR5-methyltetrahydrofolate-homocysteine methyltransferase reductase | Nogle gange (5–29 %) | I 1 tilstand |
| MYMKmyomaker, myoblast fusion factor | Nogle gange (5–29 %) | I 2 tilstande |
| MYMXmyomixer, myoblast fusion factor | Nogle gange (5–29 %) | I 1 tilstand |
| MYT1Lmyelin transcription factor 1 like | Nogle gange (5–29 %) | I 1 tilstand |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Nogle gange (5–29 %) | I 2 tilstande |
| NANSN-acetylneuraminate synthase | Nogle gange (5–29 %) | I 1 tilstand |
| NAXDNAD(P)HX dehydratase | Nogle gange (5–29 %) | I 1 tilstand |
| NDST1N-deacetylase and N-sulfotransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Nogle gange (5–29 %) | I 1 tilstand |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Nogle gange (5–29 %) | I 1 tilstand |
| NFIBnuclear factor I B | Nogle gange (5–29 %) | I 1 tilstand |
| NGLY1N-glycanase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NIPBLNIPBL cohesin loading factor | Nogle gange (5–29 %) | I 1 tilstand |
| NRCAMneuronal cell adhesion molecule | Nogle gange (5–29 %) | I 1 tilstand |
| PALB2partner and localizer of BRCA2 | Nogle gange (5–29 %) | I 1 tilstand |
| PCNTpericentrin | Nogle gange (5–29 %) | I 1 tilstand |
| PDHBpyruvate dehydrogenase E1 subunit beta | Nogle gange (5–29 %) | I 1 tilstand |
| PDHXpyruvate dehydrogenase complex component X | Nogle gange (5–29 %) | I 1 tilstand |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Nogle gange (5–29 %) | I 1 tilstand |
| PLPBPpyridoxal phosphate binding protein | Nogle gange (5–29 %) | I 2 tilstande |
| POLRMTRNA polymerase mitochondrial | Nogle gange (5–29 %) | I 1 tilstand |
| PPFIBP1PPFIB scaffold protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PPP2CAprotein phosphatase 2 catalytic subunit alpha | Nogle gange (5–29 %) | I 1 tilstand |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Nogle gange (5–29 %) | I 1 tilstand |
| PUF60poly(U) binding splicing factor 60 | Nogle gange (5–29 %) | I 1 tilstand |
| RAC1Rac family small GTPase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RAD51RAD51 recombinase | Nogle gange (5–29 %) | I 1 tilstand |
| RAD51CRAD51 paralog C | Nogle gange (5–29 %) | I 1 tilstand |
| RELREL proto-oncogene, NF-kB subunit | Nogle gange (5–29 %) | I 1 tilstand |
| RFWD3ring finger and WD repeat domain 3 | Nogle gange (5–29 %) | I 2 tilstande |
| RHOBTB2Rho related BTB domain containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| RNASET2ribonuclease T2 | Nogle gange (5–29 %) | I 1 tilstand |
| RNF113Aring finger protein 113A | Nogle gange (5–29 %) | I 1 tilstand |
| RNU4-2RNA, U4 small nuclear 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ROBO1roundabout guidance receptor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RRAS2RAS related 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SATB1SATB homeobox 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | Nogle gange (5–29 %) | I 1 tilstand |
| SETD5SET domain containing 5 | Nogle gange (5–29 %) | I 1 tilstand |
| SH2B1SH2B adaptor protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Nogle gange (5–29 %) | I 1 tilstand |
| SHMT2serine hydroxymethyltransferase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC32A1solute carrier family 32 member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC39A8solute carrier family 39 member 8 | Nogle gange (5–29 %) | I 1 tilstand |
| SLITRK2SLIT and NTRK like family member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SLX4SLX4 structure-specific endonuclease subunit | Nogle gange (5–29 %) | I 1 tilstand |
| SMC1Astructural maintenance of chromosomes 1A | Nogle gange (5–29 %) | I 2 tilstande |
| SMC3structural maintenance of chromosomes 3 | Nogle gange (5–29 %) | I 1 tilstand |
| SOX9SRY-box transcription factor 9 | Nogle gange (5–29 %) | I 1 tilstand |
| SPTBN1spectrin beta, non-erythrocytic 1 | Nogle gange (5–29 %) | I 1 tilstand |
| STAC3SH3 and cysteine rich domain 3 | Nogle gange (5–29 %) | I 1 tilstand |
| TARS1threonyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TBC1D2BTBC1 domain family member 2B | Nogle gange (5–29 %) | I 1 tilstand |
| TBC1D32TBC1 domain family member 32 | Nogle gange (5–29 %) | I 1 tilstand |
| TBCDtubulin folding cofactor D | Nogle gange (5–29 %) | I 1 tilstand |
| TBCEtubulin folding cofactor E | Nogle gange (5–29 %) | I 2 tilstande |
| TBL1XR1TBL1X/Y related 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TCF4transcription factor 4 | Nogle gange (5–29 %) | I 1 tilstand |
| TET3tet methylcytosine dioxygenase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| TGDSTDP-glucose 4,6-dehydratase | Nogle gange (5–29 %) | I 1 tilstand |
| TRAF7TNF receptor associated factor 7 | Nogle gange (5–29 %) | I 1 tilstand |
| TRIM37tripartite motif containing 37 | Nogle gange (5–29 %) | I 1 tilstand |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Nogle gange (5–29 %) | I 1 tilstand |
| TRPS1transcriptional repressor GATA binding 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TRPV6transient receptor potential cation channel subfamily V member 6 | Nogle gange (5–29 %) | I 1 tilstand |
| TRRAPtransformation/transcription domain associated protein | Nogle gange (5–29 %) | I 1 tilstand |
| TSEN15tRNA splicing endonuclease subunit 15 | Nogle gange (5–29 %) | I 1 tilstand |
| TSEN2tRNA splicing endonuclease subunit 2 | Nogle gange (5–29 %) | I 2 tilstande |
| TSEN34tRNA splicing endonuclease subunit 34 | Nogle gange (5–29 %) | I 1 tilstand |
| TSEN54tRNA splicing endonuclease subunit 54 | Nogle gange (5–29 %) | I 1 tilstand |
| UBE2Tubiquitin conjugating enzyme E2 T | Nogle gange (5–29 %) | I 1 tilstand |
| UBTFupstream binding transcription factor | Nogle gange (5–29 %) | I 1 tilstand |
| USP18ubiquitin specific peptidase 18 | Nogle gange (5–29 %) | I 1 tilstand |
| USP7ubiquitin specific peptidase 7 | Nogle gange (5–29 %) | I 1 tilstand |
| WACWW domain containing adaptor with coiled-coil | Nogle gange (5–29 %) | I 2 tilstande |
| WBP4WW domain binding protein 4 | Nogle gange (5–29 %) | I 1 tilstand |
| WDR26WD repeat domain 26 | Nogle gange (5–29 %) | I 2 tilstande |
| WDR35WD repeat domain 35 | Nogle gange (5–29 %) | I 1 tilstand |
| WDR81WD repeat domain 81 | Nogle gange (5–29 %) | I 1 tilstand |
| WDR83OSWD repeat domain 83 opposite strand | Nogle gange (5–29 %) | I 1 tilstand |
| XPO1exportin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| XRCC2X-ray repair cross complementing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| YME1L1YME1 like 1 ATPase | Nogle gange (5–29 %) | I 1 tilstand |
| YWHAEtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon | Nogle gange (5–29 %) | I 1 tilstand |
| YY1YY1 transcription factor | Nogle gange (5–29 %) | I 1 tilstand |
| ZNF148zinc finger protein 148 | Nogle gange (5–29 %) | I 1 tilstand |
| ZNF292zinc finger protein 292 | Nogle gange (5–29 %) | I 1 tilstand |
| ZNF462zinc finger protein 462 | Nogle gange (5–29 %) | I 1 tilstand |
| ZNF699zinc finger protein 699 | Nogle gange (5–29 %) | I 1 tilstand |
| ANTXR1ANTXR cell adhesion molecule 1 | Sjældent (1–4%) | I 1 tilstand |
| BRWD1bromodomain and WD repeat domain containing 1 | Sjældent (1–4%) | I 1 tilstand |
| CCDC39coiled-coil domain 39 molecular ruler complex subunit | Sjældent (1–4%) | I 1 tilstand |
| CCDC40coiled-coil domain 40 molecular ruler complex subunit | Sjældent (1–4%) | I 1 tilstand |
| CCNOcyclin O | Sjældent (1–4%) | I 1 tilstand |
| CFAP221cilia and flagella associated protein 221 | Sjældent (1–4%) | I 1 tilstand |
| CFAP298cilia and flagella associated protein 298 | Sjældent (1–4%) | I 1 tilstand |
| CFAP300cilia and flagella associated protein 300 | Sjældent (1–4%) | I 1 tilstand |
| CFAP74cilia and flagella associated protein 74 | Sjældent (1–4%) | I 1 tilstand |
| CLXNcalaxin | Sjældent (1–4%) | I 1 tilstand |
| DAW1dynein assembly factor with WD repeats 1 | Sjældent (1–4%) | I 1 tilstand |
| DNAAF1dynein axonemal assembly factor 1 | Sjældent (1–4%) | I 1 tilstand |
| DNAAF11dynein axonemal assembly factor 11 | Sjældent (1–4%) | I 1 tilstand |
| DNAAF19dynein axonemal assembly factor 19 | Sjældent (1–4%) | I 1 tilstand |
| DNAAF2dynein axonemal assembly factor 2 | Sjældent (1–4%) | I 1 tilstand |
| DNAAF3dynein axonemal assembly factor 3 | Sjældent (1–4%) | I 1 tilstand |
| DNAAF4dynein axonemal assembly factor 4 | Sjældent (1–4%) | I 1 tilstand |
| DNAAF5dynein axonemal assembly factor 5 | Sjældent (1–4%) | I 1 tilstand |
| DNAAF6dynein axonemal assembly factor 6 | Sjældent (1–4%) | I 1 tilstand |
| DNAH1dynein axonemal heavy chain 1 | Sjældent (1–4%) | I 1 tilstand |
| DNAH11dynein axonemal heavy chain 11 | Sjældent (1–4%) | I 1 tilstand |
| DNAH5dynein axonemal heavy chain 5 | Sjældent (1–4%) | I 1 tilstand |
| DNAH7dynein axonemal heavy chain 7 | Sjældent (1–4%) | I 1 tilstand |
| DNAH9dynein axonemal heavy chain 9 | Sjældent (1–4%) | I 1 tilstand |
| DNAI1dynein axonemal intermediate chain 1 | Sjældent (1–4%) | I 1 tilstand |
| DNAI2dynein axonemal intermediate chain 2 | Sjældent (1–4%) | I 1 tilstand |
| DNAJB13DnaJ heat shock protein family (Hsp40) member B13 | Sjældent (1–4%) | I 1 tilstand |
| DNAL1dynein axonemal light chain 1 | Sjældent (1–4%) | I 1 tilstand |
| DRC1dynein regulatory complex subunit 1 | Sjældent (1–4%) | I 1 tilstand |
| DRC2dynein regulatory complex subunit 2 | Sjældent (1–4%) | I 1 tilstand |
| DRC4dynein regulatory complex subunit 4 | Sjældent (1–4%) | I 1 tilstand |
| FOXJ1forkhead box J1 | Sjældent (1–4%) | I 1 tilstand |
| FOXP3forkhead box P3 | Sjældent (1–4%) | I 1 tilstand |
| GAS2L2growth arrest specific 2 like 2 | Sjældent (1–4%) | I 1 tilstand |
| HYDINHYDIN axonemal central pair apparatus protein | Sjældent (1–4%) | I 1 tilstand |
| LRRC56leucine rich repeat containing 56 | Sjældent (1–4%) | I 1 tilstand |
| MCIDASmulticiliate differentiation and DNA synthesis associated cell cycle protein | Sjældent (1–4%) | I 1 tilstand |
| MTHFRmethylenetetrahydrofolate reductase | Sjældent (1–4%) | I 1 tilstand |
| NEK10NIMA related kinase 10 | Sjældent (1–4%) | I 1 tilstand |
| NME5NME/NM23 family member 5 | Sjældent (1–4%) | I 1 tilstand |
| NME8NME/NM23 family member 8 | Sjældent (1–4%) | I 1 tilstand |
| ODAD1outer dynein arm docking complex subunit 1 | Sjældent (1–4%) | I 1 tilstand |
| ODAD2outer dynein arm docking complex subunit 2 | Sjældent (1–4%) | I 1 tilstand |
| ODAD3outer dynein arm docking complex subunit 3 | Sjældent (1–4%) | I 1 tilstand |
| ODAD4outer dynein arm docking complex subunit 4 | Sjældent (1–4%) | I 1 tilstand |
| RPGRretinitis pigmentosa GTPase regulator | Sjældent (1–4%) | I 1 tilstand |
| RSPH1radial spoke head component 1 | Sjældent (1–4%) | I 1 tilstand |
| RSPH3radial spoke head 3 | Sjældent (1–4%) | I 1 tilstand |
| RSPH4Aradial spoke head component 4A | Sjældent (1–4%) | I 1 tilstand |
| RSPH9radial spoke head component 9 | Sjældent (1–4%) | I 1 tilstand |
| SPAG1sperm associated antigen 1 | Sjældent (1–4%) | I 1 tilstand |
| SPEF2sperm flagellar and cilia associated 2 | Sjældent (1–4%) | I 1 tilstand |
| STK36serine/threonine kinase 36 | Sjældent (1–4%) | I 1 tilstand |
| TTC12tetratricopeptide repeat domain 12 | Sjældent (1–4%) | I 1 tilstand |
| VPS37AVPS37A subunit of ESCRT-I | Sjældent (1–4%) | I 1 tilstand |
| ZMYND10zinc finger MYND-type containing 10 | Sjældent (1–4%) | I 1 tilstand |
| AP4B1adaptor related protein complex 4 subunit beta 1 | Ikke registreret | I 1 tilstand |
| ARHGAP31Rho GTPase activating protein 31 | Ikke registreret | I 1 tilstand |
| BICD2BICD cargo adaptor 2 | Ikke registreret | I 1 tilstand |
| BLTP1bridge-like lipid transfer protein family member 1 | Ikke registreret | I 1 tilstand |
| BMP4bone morphogenetic protein 4 | Ikke registreret | I 1 tilstand |
| C12orf57chromosome 12 open reading frame 57 | Ikke registreret | I 1 tilstand |
| CHD3chromodomain helicase DNA binding protein 3 | Ikke registreret | I 1 tilstand |
| COL4A2collagen type IV alpha 2 chain | Ikke registreret | I 1 tilstand |
| CPLX1complexin 1 | Ikke registreret | I 1 tilstand |
| CTBP1C-terminal binding protein 1 | Ikke registreret | I 1 tilstand |
| CUL4Bcullin 4B | Ikke registreret | I 1 tilstand |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Ikke registreret | I 1 tilstand |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Ikke registreret | I 1 tilstand |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Ikke registreret | I 1 tilstand |
| FGFRL1fibroblast growth factor receptor like 1 | Ikke registreret | I 1 tilstand |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Ikke registreret | I 1 tilstand |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Ikke registreret | I 2 tilstande |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Ikke registreret | I 1 tilstand |
| GNAO1G protein subunit alpha o1 | Ikke registreret | I 1 tilstand |
| HEPACAMhepatic and glial cell adhesion molecule | Ikke registreret | I 1 tilstand |
| HTRA2HtrA serine peptidase 2 | Ikke registreret | I 1 tilstand |
| JAM3junctional adhesion molecule 3 | Ikke registreret | I 1 tilstand |
| KANK1KN motif and ankyrin repeat domains 1 | Ikke registreret | I 1 tilstand |
| KIF7kinesin family member 7 | Ikke registreret | I 1 tilstand |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Ikke registreret | I 1 tilstand |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Ikke registreret | I 1 tilstand |
| MOCS1molybdenum cofactor synthesis 1 | Ikke registreret | I 1 tilstand |
| MOCS2molybdenum cofactor synthesis 2 | Ikke registreret | I 1 tilstand |
| MSL3MSL complex subunit 3 | Ikke registreret | I 1 tilstand |
| NSD2nuclear receptor binding SET domain protein 2 | Ikke registreret | I 1 tilstand |
| OCLNoccludin | Ikke registreret | I 1 tilstand |
| OSGEPO-sialoglycoprotein endopeptidase | Ikke registreret | I 1 tilstand |
| PAX6paired box 6 | Ikke registreret | I 1 tilstand |
| QARS1glutaminyl-tRNA synthetase 1 | Ikke registreret | I 1 tilstand |
| RAC3Rac family small GTPase 3 | Ikke registreret | I 1 tilstand |
| ROGDIrogdi atypical leucine zipper | Ikke registreret | I 1 tilstand |
| SETD2SET domain containing 2, histone lysine methyltransferase | Ikke registreret | I 1 tilstand |
| SHHsonic hedgehog signaling molecule | Ikke registreret | I 1 tilstand |
| SLC25A1solute carrier family 25 member 1 | Ikke registreret | I 1 tilstand |
| SLC6A9solute carrier family 6 member 9 | Ikke registreret | I 1 tilstand |
| SUMF1sulfatase modifying factor 1 | Ikke registreret | I 1 tilstand |
| TAPT1transmembrane anterior posterior transformation 1 | Ikke registreret | I 1 tilstand |
| TBC1D24TBC1 domain family member 24 | Ikke registreret | I 1 tilstand |
| TMEM107transmembrane protein 107 | Ikke registreret | I 1 tilstand |
| TNNI3troponin I3, cardiac type | Ikke registreret | I 1 tilstand |
| TNPO2transportin 2 | Ikke registreret | I 1 tilstand |
| UBE3Bubiquitin protein ligase E3B | Ikke registreret | I 1 tilstand |
| UGDHUDP-glucose 6-dehydrogenase | Ikke registreret | I 1 tilstand |
| WDR73WD repeat domain 73 | Ikke registreret | I 1 tilstand |
| XRCC4X-ray repair cross complementing 4 | Ikke registreret | I 1 tilstand |
| ZC4H2zinc finger C4H2-type containing | Ikke registreret | I 1 tilstand |
| ZEB2zinc finger E-box binding homeobox 2 | Ikke registreret | I 1 tilstand |
| ZMIZ1zinc finger MIZ-type containing 1 | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
Snævrere træk
Bredere træk
Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
Hvem vi hjælperVores videnskabProdukterResultater
Log indSpørgKom i gangfra 449 $
Én test. Svar for hele livet.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger