Egenskap
Ventriculomegaly
An increase in size of the ventricular system of the brain.
Sammendrag
- Også kalt
- 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
- Kroppssystem
- Abnormality of the nervous system
ReferansegenomGRCh38hg38
Posisjoner på gen- og variantsidene følger dette valget i denne nettleseren.
Read the genes linked to Ventriculomegaly, and the rest of your genome, with one test.
Fra 449 $Gratis frakt · Resultater på 6–8 uker
Få mitt Genome Test655 gener knyttet til Ventriculomegaly
Endringer i disse genene forårsaker sjeldne tilstander der Ventriculomegaly 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 |
|---|---|---|
| ADGRG1adhesion G protein-coupled receptor G1 | Alltid | I 2 tilstander |
| AP4E1adaptor related protein complex 4 subunit epsilon 1 | Alltid | I 1 tilstand |
| APC2APC regulator of Wnt signaling pathway 2 | Alltid | I 2 tilstander |
| ASNSasparagine synthetase (glutamine-hydrolyzing) | Alltid | I 1 tilstand |
| ATP11AATPase phospholipid transporting 11A | Alltid | I 1 tilstand |
| ATP6V1AATPase H+ transporting V1 subunit A | Alltid | I 1 tilstand |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Alltid | I 2 tilstander |
| BAIAP2BAR/IMD domain containing adaptor protein 2 | Alltid | I 1 tilstand |
| BGNbiglycan | Alltid | I 1 tilstand |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Alltid | I 2 tilstander |
| CCDC88Acoiled-coil and HOOK domain protein 88A | Alltid | I 1 tilstand |
| CCDC88Ccoiled-coil and HOOK domain protein 88C | Alltid | I 1 tilstand |
| CDC42cell division cycle 42 | Alltid | I 2 tilstander |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Alltid | I 1 tilstand |
| CHD4chromodomain helicase DNA binding protein 4 | Alltid | I 1 tilstand |
| CILK1ciliogenesis associated kinase 1 | Alltid | I 2 tilstander |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Alltid | I 1 tilstand |
| COL3A1collagen type III alpha 1 chain | Alltid | I 1 tilstand |
| COPB2coat protein complex I subunit beta 2 | Alltid | I 2 tilstander |
| COX6B1cytochrome c oxidase subunit 6B1 | Alltid | I 1 tilstand |
| COX8Acytochrome c oxidase subunit 8A | Alltid | I 1 tilstand |
| CPT2carnitine palmitoyltransferase 2 | Alltid | I 2 tilstander |
| CSF1Rcolony stimulating factor 1 receptor | Alltid | I 1 tilstand |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Alltid | I 1 tilstand |
| DAG1dystroglycan 1 | Alltid | I 3 tilstander |
| EIF2B4eukaryotic translation initiation factor 2B subunit delta | Alltid | I 1 tilstand |
| EIF4A2eukaryotic translation initiation factor 4A2 | Alltid | I 1 tilstand |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Alltid | I 2 tilstander |
| FAAP100FA core complex associated protein 100 | Alltid | I 2 tilstander |
| FANCBFA complementation group B | Alltid | I 2 tilstander |
| FBXO28F-box protein 28 | Alltid | I 1 tilstand |
| FGFR2fibroblast growth factor receptor 2 | Alltid | I 4 tilstander |
| FHfumarate hydratase | Alltid | I 2 tilstander |
| FIG4FIG4 phosphoinositide 5-phosphatase | Alltid | I 1 tilstand |
| FKRPfukutin related protein | Alltid | I 7 tilstander |
| FLVCR2FLVCR choline and putative heme transporter 2 | Alltid | I 1 tilstand |
| GET4guided entry of tail-anchored proteins factor 4 | Alltid | I 1 tilstand |
| GPSM2G protein signaling modulator 2 | Alltid | I 2 tilstander |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Alltid | I 1 tilstand |
| GTPBP2GTP binding protein 2 | Alltid | I 1 tilstand |
Vis 615 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Alltid | I 1 tilstand |
| IBA57iron-sulfur cluster assembly factor IBA57 | Alltid | I 1 tilstand |
| IFT140intraflagellar transport 140 | Alltid | I 1 tilstand |
| INTS11integrator complex subunit 11 | Alltid | I 1 tilstand |
| INTUinturned planar cell polarity protein | Alltid | I 1 tilstand |
| ISCA1iron-sulfur cluster assembly 1 | Alltid | I 2 tilstander |
| KATNB1katanin regulatory subunit B1 | Alltid | I 1 tilstand |
| KIAA0753KIAA0753 | Alltid | I 2 tilstander |
| KIDINS220kinase D interacting substrate 220 | Alltid | I 2 tilstander |
| L1CAML1 cell adhesion molecule | Alltid | I 3 tilstander |
| LIPT1lipoyltransferase 1 | Alltid | I 1 tilstand |
| LIPT2lipoyl(octanoyl) transferase 2 | Alltid | I 1 tilstand |
| LRRC32leucine rich repeat containing 32 | Alltid | I 1 tilstand |
| MAPRE2microtubule associated protein RP/EB family member 2 | Alltid | I 1 tilstand |
| MAST1microtubule associated serine/threonine kinase 1 | Alltid | I 1 tilstand |
| MFSD2AMFSD2 lysolipid transporter A, lysophospholipid | Alltid | I 2 tilstander |
| MINPP1multiple inositol-polyphosphate phosphatase 1 | Alltid | I 1 tilstand |
| MKS1MKS transition zone complex subunit 1 | Alltid | I 1 tilstand |
| MPDZmultiple PDZ domain crumbs cell polarity complex component | Alltid | I 1 tilstand |
| MTORmechanistic target of rapamycin kinase | Alltid | I 3 tilstander |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Alltid | I 1 tilstand |
| NADK2NAD kinase 2, mitochondrial | Alltid | I 2 tilstander |
| NDE1nudE neurodevelopment protein 1 | Alltid | I 2 tilstander |
| NDUFA8NADH:ubiquinone oxidoreductase subunit A8 | Alltid | I 1 tilstand |
| NDUFS8NADH:ubiquinone oxidoreductase core subunit S8 | Alltid | I 1 tilstand |
| NFIAnuclear factor I A | Alltid | I 2 tilstander |
| NSD1nuclear receptor binding SET domain protein 1 | Alltid | I 2 tilstander |
| NUP188nucleoporin 188 | Alltid | I 1 tilstand |
| PEX1peroxisomal biogenesis factor 1 | Alltid | I 1 tilstand |
| PHGDHphosphoglycerate dehydrogenase | Alltid | I 2 tilstander |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Alltid | I 1 tilstand |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Alltid | I 1 tilstand |
| PIK3R2phosphoinositide-3-kinase regulatory subunit 2 | Alltid | I 1 tilstand |
| PNKPpolynucleotide kinase 3'-phosphatase | Alltid | I 1 tilstand |
| POGZpogo transposable element derived with ZNF domain | Alltid | I 1 tilstand |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Alltid | I 2 tilstander |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Alltid | I 1 tilstand |
| PSAPprosaposin | Alltid | I 1 tilstand |
| PTBP1polypyrimidine tract binding protein 1 | Alltid | I 1 tilstand |
| RAB11BRAB11B, member RAS oncogene family | Alltid | I 1 tilstand |
| RAD21RAD21 cohesin complex component | Alltid | I 3 tilstander |
| RAP1BRAP1B, member of RAS oncogene family | Alltid | I 1 tilstand |
| RNU2-2RNA, U2 small nuclear 2 | Alltid | I 1 tilstand |
| RNU5B-1RNA, U5B small nuclear 1 | Alltid | I 1 tilstand |
| RPS6KA3ribosomal protein S6 kinase A3 | Alltid | I 2 tilstander |
| SEC31ASEC31 homolog A, COPII component | Alltid | I 1 tilstand |
| SHQ1SHQ1, H/ACA ribonucleoprotein assembly factor | Alltid | I 1 tilstand |
| SLC31A1solute carrier family 31 member 1 | Alltid | I 1 tilstand |
| SNIP1Smad nuclear interacting protein 1 | Alltid | I 1 tilstand |
| SPOUT1SPOUT domain containing methyltransferase 1 | Alltid | I 1 tilstand |
| SV2Asynaptic vesicle glycoprotein 2A | Alltid | I 1 tilstand |
| TBCKTBC1 domain containing kinase | Alltid | I 2 tilstander |
| TBK1TANK binding kinase 1 | Alltid | I 1 tilstand |
| TMX2thioredoxin related transmembrane protein 2 | Alltid | I 1 tilstand |
| TRAPPC12trafficking protein particle complex subunit 12 | Alltid | I 2 tilstander |
| TRAPPC6Btrafficking protein particle complex subunit 6B | Alltid | I 1 tilstand |
| TRIM71tripartite motif containing 71 | Alltid | I 1 tilstand |
| TUBA1Atubulin alpha 1a | Alltid | I 3 tilstander |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Alltid | I 2 tilstander |
| ZIC2Zic family zinc finger 2 | Alltid | I 1 tilstand |
| AFF3ALF transcription elongation factor 3 | Svært ofte (80–99 %) | I 1 tilstand |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Svært ofte (80–99 %) | I 2 tilstander |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Svært ofte (80–99 %) | I 1 tilstand |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Svært ofte (80–99 %) | I 2 tilstander |
| BUB3BUB3 mitotic checkpoint protein | Svært ofte (80–99 %) | I 1 tilstand |
| CASZ1castor zinc finger 1 | Svært ofte (80–99 %) | I 1 tilstand |
| CCND2cyclin D2 | Svært ofte (80–99 %) | I 1 tilstand |
| CEP57centrosomal protein 57 | Svært ofte (80–99 %) | I 1 tilstand |
| COL4A1collagen type IV alpha 1 chain | Svært ofte (80–99 %) | I 1 tilstand |
| CRPPACDP-L-ribitol pyrophosphorylase A | Svært ofte (80–99 %) | I 3 tilstander |
| DHCR2424-dehydrocholesterol reductase | Svært ofte (80–99 %) | I 2 tilstander |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Svært ofte (80–99 %) | I 1 tilstand |
| FKTNfukutin | Svært ofte (80–99 %) | I 4 tilstander |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Svært ofte (80–99 %) | I 1 tilstand |
| HRASHRas proto-oncogene, GTPase | Svært ofte (80–99 %) | I 2 tilstander |
| HSPG2heparan sulfate proteoglycan 2 | Svært ofte (80–99 %) | I 1 tilstand |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Svært ofte (80–99 %) | I 1 tilstand |
| KRASKRas proto-oncogene, GTPase | Svært ofte (80–99 %) | I 2 tilstander |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Svært ofte (80–99 %) | I 4 tilstander |
| LUZP1leucine zipper protein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| MAGEL2MAGE family member L2 | Svært ofte (80–99 %) | I 5 tilstander |
| MMP23Bmatrix metallopeptidase 23B | Svært ofte (80–99 %) | I 1 tilstand |
| NDNnecdin, MAGE family member | Svært ofte (80–99 %) | I 3 tilstander |
| NOTCH2NLCnotch 2 N-terminal like C | Svært ofte (80–99 %) | I 1 tilstand |
| NRASNRAS proto-oncogene, GTPase | Svært ofte (80–99 %) | I 1 tilstand |
| OCA2OCA2 melanosomal transmembrane protein | Svært ofte (80–99 %) | I 3 tilstander |
| OPHN1oligophrenin 1 | Svært ofte (80–99 %) | I 2 tilstander |
| OTUD5OTU deubiquitinase 5 | Svært ofte (80–99 %) | I 1 tilstand |
| PDPNpodoplanin | Svært ofte (80–99 %) | I 1 tilstand |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Svært ofte (80–99 %) | I 4 tilstander |
| POMKprotein O-mannose kinase | Svært ofte (80–99 %) | I 2 tilstander |
| POMT1protein O-mannosyltransferase 1 | Svært ofte (80–99 %) | I 5 tilstander |
| POMT2protein O-mannosyltransferase 2 | Svært ofte (80–99 %) | I 7 tilstander |
| PRDM16PR/SET domain 16 | Svært ofte (80–99 %) | I 1 tilstand |
| PRKCZprotein kinase C zeta | Svært ofte (80–99 %) | I 1 tilstand |
| REREarginine-glutamic acid dipeptide repeats | Svært ofte (80–99 %) | I 3 tilstander |
| RXYLT1ribitol xylosyltransferase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| SKISKI proto-oncogene | Svært ofte (80–99 %) | I 2 tilstander |
| SNAPINSNAP associated protein | Svært ofte (80–99 %) | I 1 tilstand |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Svært ofte (80–99 %) | I 3 tilstander |
| SPENspen family transcriptional repressor | Svært ofte (80–99 %) | I 1 tilstand |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Svært ofte (80–99 %) | I 1 tilstand |
| TREM2triggering receptor expressed on myeloid cells 2 | Svært ofte (80–99 %) | I 1 tilstand |
| TRIP13thyroid hormone receptor interactor 13 | Svært ofte (80–99 %) | I 1 tilstand |
| TYROBPtransmembrane immune signaling adaptor TYROBP | Svært ofte (80–99 %) | I 1 tilstand |
| UBE4Bubiquitination factor E4B | Svært ofte (80–99 %) | I 1 tilstand |
| ZNF335zinc finger protein 335 | Svært 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 tilstander |
| 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 tilstander |
| ASPMassembly factor for spindle microtubules | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| COG4component of oligomeric golgi complex 4 | Ofte (30–79 %) | I 1 tilstand |
| COG8component of oligomeric golgi complex 8 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| DDX3XDEAD-box helicase 3 X-linked | Ofte (30–79 %) | I 3 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Ofte (30–79 %) | I 1 tilstand |
| GLB1galactosidase beta 1 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| LONP1lon peptidase 1, mitochondrial | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| OFD1OFD1 centriole and centriolar satellite protein | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Ofte (30–79 %) | I 3 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Ofte (30–79 %) | I 2 tilstander |
| PLAAphospholipase A2 activating protein | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| POLR2ARNA polymerase II subunit A | Ofte (30–79 %) | I 1 tilstand |
| PPP2R1Aprotein phosphatase 2 scaffold subunit Aalpha | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| RNASEH2Aribonuclease H2 subunit A | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| STILSTIL centriolar assembly protein | Ofte (30–79 %) | I 1 tilstand |
| STRADASTE20 related adaptor alpha | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| VPS11VPS11 core subunit of CORVET and HOPS complexes | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| AARS1alanyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ABCD1ATP binding cassette subfamily D member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ACBD6acyl-CoA binding domain containing 6 | Noen ganger (5–29 %) | I 1 tilstand |
| ACP5acid phosphatase 5, tartrate resistant | Noen ganger (5–29 %) | I 1 tilstand |
| ACTBactin beta | Noen ganger (5–29 %) | I 1 tilstand |
| ACTG1actin gamma 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ADAT3adenosine deaminase tRNA specific 3 | Noen ganger (5–29 %) | I 1 tilstand |
| ADNPactivity dependent neuroprotector homeobox | Noen ganger (5–29 %) | I 2 tilstander |
| AHCYadenosylhomocysteinase | Noen ganger (5–29 %) | I 1 tilstand |
| ALDH7A1aldehyde dehydrogenase 7 family member A1 | Noen ganger (5–29 %) | I 1 tilstand |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| ARID1BAT-rich interaction domain 1B | Noen ganger (5–29 %) | I 1 tilstand |
| ARMC9armadillo repeat containing 9 | Noen ganger (5–29 %) | I 1 tilstand |
| ASXL1ASXL transcriptional regulator 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ASXL2ASXL transcriptional regulator 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Noen ganger (5–29 %) | I 1 tilstand |
| B3GLCTbeta 3-glucosyltransferase | Noen ganger (5–29 %) | I 2 tilstander |
| BCAP31B cell receptor associated protein 31 | Noen ganger (5–29 %) | I 1 tilstand |
| BCL11ABCL11 transcription factor A | Noen ganger (5–29 %) | I 1 tilstand |
| BMP2bone morphogenetic protein 2 | 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 |
| BRPF1bromodomain and PHD finger containing 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CARS1cysteinyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CDK10cyclin dependent kinase 10 | Noen ganger (5–29 %) | I 1 tilstand |
| CELF2CUGBP Elav-like family member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CEP120centrosomal protein 120 | Noen ganger (5–29 %) | I 1 tilstand |
| CHD8chromodomain helicase DNA binding protein 8 | Noen ganger (5–29 %) | I 1 tilstand |
| CHST14carbohydrate sulfotransferase 14 | Noen ganger (5–29 %) | I 2 tilstander |
| CLCN4Cl-/H+ antiporter 4 | Noen ganger (5–29 %) | I 1 tilstand |
| COG6component of oligomeric golgi complex 6 | Noen ganger (5–29 %) | I 1 tilstand |
| CTDP1CTD phosphatase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CTNNB1catenin beta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CTSFcathepsin F | Noen ganger (5–29 %) | I 1 tilstand |
| D2HGDHD-2-hydroxyglutarate dehydrogenase | Noen ganger (5–29 %) | I 1 tilstand |
| DBR1debranching RNA lariats 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DCHS1dachsous cadherin-related 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DNA2DNA replication helicase/nuclease 2 | Noen ganger (5–29 %) | I 1 tilstand |
| DNMT3ADNA methyltransferase 3 alpha | Noen ganger (5–29 %) | I 2 tilstander |
| DOHHdeoxyhypusine hydroxylase | Noen ganger (5–29 %) | I 1 tilstand |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Noen ganger (5–29 %) | I 1 tilstand |
| DSEdermatan sulfate epimerase | Noen ganger (5–29 %) | I 1 tilstand |
| DSTdystonin | Noen ganger (5–29 %) | I 1 tilstand |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DYNC2I1dynein 2 intermediate chain 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DYNC2I2dynein 2 intermediate chain 2 | Noen ganger (5–29 %) | I 1 tilstand |
| EBPEBP cholestenol delta-isomerase | Noen ganger (5–29 %) | I 1 tilstand |
| EHMT1euchromatic histone lysine methyltransferase 1 | Noen ganger (5–29 %) | I 2 tilstander |
| EMG1EMG1 N1-specific pseudouridine methyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Noen ganger (5–29 %) | I 1 tilstand |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Noen ganger (5–29 %) | I 2 tilstander |
| EXT1exostosin glycosyltransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| EXTL3exostosin like glycosyltransferase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| FANCAFA complementation group A | 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 |
| FANCLFA complementation group L | Noen ganger (5–29 %) | I 1 tilstand |
| FANCMFA complementation group M | Noen ganger (5–29 %) | I 1 tilstand |
| FAT4FAT atypical cadherin 4 | Noen ganger (5–29 %) | I 1 tilstand |
| FBN1fibrillin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| FBP1fructose-bisphosphatase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| FBXO22F-box protein 22 | Noen ganger (5–29 %) | I 1 tilstand |
| FOXF1forkhead box F1 | Noen ganger (5–29 %) | I 1 tilstand |
| GBA1glucosylceramidase beta 1 | Noen ganger (5–29 %) | I 2 tilstander |
| GCDHglutaryl-CoA dehydrogenase | Noen ganger (5–29 %) | I 1 tilstand |
| GFM1G elongation factor mitochondrial 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GMPPBGDP-mannose pyrophosphorylase B | Noen ganger (5–29 %) | I 2 tilstander |
| GNB2G protein subunit beta 2 | Noen ganger (5–29 %) | I 1 tilstand |
| GRIK2glutamate ionotropic receptor kainate type subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| GTF2E2general transcription factor IIE subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| GTF2H5general transcription factor IIH subunit 5 | Noen ganger (5–29 %) | I 1 tilstand |
| H1-4H1.4 linker histone, cluster member | Noen ganger (5–29 %) | I 1 tilstand |
| H3-3AH3.3 histone A | Noen ganger (5–29 %) | I 1 tilstand |
| HK1hexokinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| HTThuntingtin | Noen ganger (5–29 %) | I 1 tilstand |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| IDH1isocitrate dehydrogenase (NADP(+)) 1 | Noen ganger (5–29 %) | I 1 tilstand |
| IDH2isocitrate dehydrogenase (NADP(+)) 2 | Noen ganger (5–29 %) | I 1 tilstand |
| IFT172intraflagellar transport 172 | Noen ganger (5–29 %) | I 1 tilstand |
| IFT80intraflagellar transport 80 | Noen ganger (5–29 %) | I 1 tilstand |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Noen ganger (5–29 %) | I 1 tilstand |
| KDM2Blysine demethylase 2B | Noen ganger (5–29 %) | I 1 tilstand |
| KIFBPkinesin family binding protein | Noen ganger (5–29 %) | I 1 tilstand |
| KMT2Clysine methyltransferase 2C | Noen ganger (5–29 %) | I 1 tilstand |
| KMT5Blysine methyltransferase 5B | Noen ganger (5–29 %) | I 1 tilstand |
| KPTNkaptin, actin binding protein | Noen ganger (5–29 %) | I 1 tilstand |
| KRT14keratin 14 | Noen ganger (5–29 %) | I 1 tilstand |
| KRT5keratin 5 | Noen ganger (5–29 %) | I 1 tilstand |
| LGI1leucine rich glioma inactivated 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MAD2L2mitotic arrest deficient 2 like 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MAGmyelin associated glycoprotein | Noen ganger (5–29 %) | I 1 tilstand |
| MAU2MAU2 sister chromatid cohesion factor | Noen ganger (5–29 %) | I 2 tilstander |
| MED16mediator complex subunit 16 | Noen ganger (5–29 %) | I 1 tilstand |
| MPLKIPM-phase specific PLK1 interacting protein | Noen ganger (5–29 %) | I 1 tilstand |
| MTRR5-methyltetrahydrofolate-homocysteine methyltransferase reductase | Noen ganger (5–29 %) | I 1 tilstand |
| MYMKmyomaker, myoblast fusion factor | Noen ganger (5–29 %) | I 2 tilstander |
| MYMXmyomixer, myoblast fusion factor | Noen ganger (5–29 %) | I 1 tilstand |
| MYT1Lmyelin transcription factor 1 like | Noen ganger (5–29 %) | I 1 tilstand |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Noen ganger (5–29 %) | I 2 tilstander |
| NANSN-acetylneuraminate synthase | Noen ganger (5–29 %) | I 1 tilstand |
| NAXDNAD(P)HX dehydratase | Noen ganger (5–29 %) | I 1 tilstand |
| NDST1N-deacetylase and N-sulfotransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Noen ganger (5–29 %) | I 1 tilstand |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Noen ganger (5–29 %) | I 1 tilstand |
| NFIBnuclear factor I B | Noen ganger (5–29 %) | I 1 tilstand |
| NGLY1N-glycanase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NIPBLNIPBL cohesin loading factor | Noen ganger (5–29 %) | I 1 tilstand |
| NRCAMneuronal cell adhesion molecule | Noen ganger (5–29 %) | I 1 tilstand |
| PALB2partner and localizer of BRCA2 | Noen ganger (5–29 %) | I 1 tilstand |
| PCNTpericentrin | Noen ganger (5–29 %) | I 1 tilstand |
| PDHBpyruvate dehydrogenase E1 subunit beta | Noen ganger (5–29 %) | I 1 tilstand |
| PDHXpyruvate dehydrogenase complex component X | Noen ganger (5–29 %) | I 1 tilstand |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Noen ganger (5–29 %) | I 1 tilstand |
| PLPBPpyridoxal phosphate binding protein | Noen ganger (5–29 %) | I 2 tilstander |
| POLRMTRNA polymerase mitochondrial | Noen ganger (5–29 %) | I 1 tilstand |
| PPFIBP1PPFIB scaffold protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PPP2CAprotein phosphatase 2 catalytic subunit alpha | Noen ganger (5–29 %) | I 1 tilstand |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Noen ganger (5–29 %) | I 1 tilstand |
| PUF60poly(U) binding splicing factor 60 | Noen ganger (5–29 %) | I 1 tilstand |
| RAC1Rac family small GTPase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| RAD51RAD51 recombinase | Noen ganger (5–29 %) | I 1 tilstand |
| RAD51CRAD51 paralog C | Noen ganger (5–29 %) | I 1 tilstand |
| RELREL proto-oncogene, NF-kB subunit | Noen ganger (5–29 %) | I 1 tilstand |
| RFWD3ring finger and WD repeat domain 3 | Noen ganger (5–29 %) | I 2 tilstander |
| RHOBTB2Rho related BTB domain containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| RNASET2ribonuclease T2 | Noen ganger (5–29 %) | I 1 tilstand |
| RNF113Aring finger protein 113A | Noen ganger (5–29 %) | I 1 tilstand |
| RNU4-2RNA, U4 small nuclear 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ROBO1roundabout guidance receptor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| RRAS2RAS related 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SATB1SATB homeobox 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | Noen ganger (5–29 %) | I 1 tilstand |
| SETD5SET domain containing 5 | Noen ganger (5–29 %) | I 1 tilstand |
| SH2B1SH2B adaptor protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Noen ganger (5–29 %) | I 1 tilstand |
| SHMT2serine hydroxymethyltransferase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC32A1solute carrier family 32 member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC39A8solute carrier family 39 member 8 | Noen ganger (5–29 %) | I 1 tilstand |
| SLITRK2SLIT and NTRK like family member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SLX4SLX4 structure-specific endonuclease subunit | Noen ganger (5–29 %) | I 1 tilstand |
| SMC1Astructural maintenance of chromosomes 1A | Noen ganger (5–29 %) | I 2 tilstander |
| SMC3structural maintenance of chromosomes 3 | Noen ganger (5–29 %) | I 1 tilstand |
| SOX9SRY-box transcription factor 9 | Noen ganger (5–29 %) | I 1 tilstand |
| SPTBN1spectrin beta, non-erythrocytic 1 | Noen ganger (5–29 %) | I 1 tilstand |
| STAC3SH3 and cysteine rich domain 3 | Noen ganger (5–29 %) | I 1 tilstand |
| TARS1threonyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TBC1D2BTBC1 domain family member 2B | Noen ganger (5–29 %) | I 1 tilstand |
| TBC1D32TBC1 domain family member 32 | Noen ganger (5–29 %) | I 1 tilstand |
| TBCDtubulin folding cofactor D | Noen ganger (5–29 %) | I 1 tilstand |
| TBCEtubulin folding cofactor E | Noen ganger (5–29 %) | I 2 tilstander |
| TBL1XR1TBL1X/Y related 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TCF4transcription factor 4 | Noen ganger (5–29 %) | I 1 tilstand |
| TET3tet methylcytosine dioxygenase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| TGDSTDP-glucose 4,6-dehydratase | Noen ganger (5–29 %) | I 1 tilstand |
| TRAF7TNF receptor associated factor 7 | Noen ganger (5–29 %) | I 1 tilstand |
| TRIM37tripartite motif containing 37 | Noen ganger (5–29 %) | I 1 tilstand |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Noen ganger (5–29 %) | I 1 tilstand |
| TRPS1transcriptional repressor GATA binding 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TRPV6transient receptor potential cation channel subfamily V member 6 | Noen ganger (5–29 %) | I 1 tilstand |
| TRRAPtransformation/transcription domain associated protein | Noen ganger (5–29 %) | I 1 tilstand |
| TSEN15tRNA splicing endonuclease subunit 15 | Noen ganger (5–29 %) | I 1 tilstand |
| TSEN2tRNA splicing endonuclease subunit 2 | Noen ganger (5–29 %) | I 2 tilstander |
| TSEN34tRNA splicing endonuclease subunit 34 | Noen ganger (5–29 %) | I 1 tilstand |
| TSEN54tRNA splicing endonuclease subunit 54 | Noen ganger (5–29 %) | I 1 tilstand |
| UBE2Tubiquitin conjugating enzyme E2 T | Noen ganger (5–29 %) | I 1 tilstand |
| UBTFupstream binding transcription factor | Noen ganger (5–29 %) | I 1 tilstand |
| USP18ubiquitin specific peptidase 18 | Noen ganger (5–29 %) | I 1 tilstand |
| USP7ubiquitin specific peptidase 7 | Noen ganger (5–29 %) | I 1 tilstand |
| WACWW domain containing adaptor with coiled-coil | Noen ganger (5–29 %) | I 2 tilstander |
| WBP4WW domain binding protein 4 | Noen ganger (5–29 %) | I 1 tilstand |
| WDR26WD repeat domain 26 | Noen ganger (5–29 %) | I 2 tilstander |
| WDR35WD repeat domain 35 | Noen ganger (5–29 %) | I 1 tilstand |
| WDR81WD repeat domain 81 | Noen ganger (5–29 %) | I 1 tilstand |
| WDR83OSWD repeat domain 83 opposite strand | Noen ganger (5–29 %) | I 1 tilstand |
| XPO1exportin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| XRCC2X-ray repair cross complementing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| YME1L1YME1 like 1 ATPase | Noen ganger (5–29 %) | I 1 tilstand |
| YWHAEtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon | Noen ganger (5–29 %) | I 1 tilstand |
| YY1YY1 transcription factor | Noen ganger (5–29 %) | I 1 tilstand |
| ZNF148zinc finger protein 148 | Noen ganger (5–29 %) | I 1 tilstand |
| ZNF292zinc finger protein 292 | Noen ganger (5–29 %) | I 1 tilstand |
| ZNF462zinc finger protein 462 | Noen ganger (5–29 %) | I 1 tilstand |
| ZNF699zinc finger protein 699 | Noen ganger (5–29 %) | I 1 tilstand |
| ANTXR1ANTXR cell adhesion molecule 1 | Sjelden (1–4%) | I 1 tilstand |
| BRWD1bromodomain and WD repeat domain containing 1 | Sjelden (1–4%) | I 1 tilstand |
| CCDC39coiled-coil domain 39 molecular ruler complex subunit | Sjelden (1–4%) | I 1 tilstand |
| CCDC40coiled-coil domain 40 molecular ruler complex subunit | Sjelden (1–4%) | I 1 tilstand |
| CCNOcyclin O | Sjelden (1–4%) | I 1 tilstand |
| CFAP221cilia and flagella associated protein 221 | Sjelden (1–4%) | I 1 tilstand |
| CFAP298cilia and flagella associated protein 298 | Sjelden (1–4%) | I 1 tilstand |
| CFAP300cilia and flagella associated protein 300 | Sjelden (1–4%) | I 1 tilstand |
| CFAP74cilia and flagella associated protein 74 | Sjelden (1–4%) | I 1 tilstand |
| CLXNcalaxin | Sjelden (1–4%) | I 1 tilstand |
| DAW1dynein assembly factor with WD repeats 1 | Sjelden (1–4%) | I 1 tilstand |
| DNAAF1dynein axonemal assembly factor 1 | Sjelden (1–4%) | I 1 tilstand |
| DNAAF11dynein axonemal assembly factor 11 | Sjelden (1–4%) | I 1 tilstand |
| DNAAF19dynein axonemal assembly factor 19 | Sjelden (1–4%) | I 1 tilstand |
| DNAAF2dynein axonemal assembly factor 2 | Sjelden (1–4%) | I 1 tilstand |
| DNAAF3dynein axonemal assembly factor 3 | Sjelden (1–4%) | I 1 tilstand |
| DNAAF4dynein axonemal assembly factor 4 | Sjelden (1–4%) | I 1 tilstand |
| DNAAF5dynein axonemal assembly factor 5 | Sjelden (1–4%) | I 1 tilstand |
| DNAAF6dynein axonemal assembly factor 6 | Sjelden (1–4%) | I 1 tilstand |
| DNAH1dynein axonemal heavy chain 1 | Sjelden (1–4%) | I 1 tilstand |
| DNAH11dynein axonemal heavy chain 11 | Sjelden (1–4%) | I 1 tilstand |
| DNAH5dynein axonemal heavy chain 5 | Sjelden (1–4%) | I 1 tilstand |
| DNAH7dynein axonemal heavy chain 7 | Sjelden (1–4%) | I 1 tilstand |
| DNAH9dynein axonemal heavy chain 9 | Sjelden (1–4%) | I 1 tilstand |
| DNAI1dynein axonemal intermediate chain 1 | Sjelden (1–4%) | I 1 tilstand |
| DNAI2dynein axonemal intermediate chain 2 | Sjelden (1–4%) | I 1 tilstand |
| DNAJB13DnaJ heat shock protein family (Hsp40) member B13 | Sjelden (1–4%) | I 1 tilstand |
| DNAL1dynein axonemal light chain 1 | Sjelden (1–4%) | I 1 tilstand |
| DRC1dynein regulatory complex subunit 1 | Sjelden (1–4%) | I 1 tilstand |
| DRC2dynein regulatory complex subunit 2 | Sjelden (1–4%) | I 1 tilstand |
| DRC4dynein regulatory complex subunit 4 | Sjelden (1–4%) | I 1 tilstand |
| FOXJ1forkhead box J1 | Sjelden (1–4%) | I 1 tilstand |
| FOXP3forkhead box P3 | Sjelden (1–4%) | I 1 tilstand |
| GAS2L2growth arrest specific 2 like 2 | Sjelden (1–4%) | I 1 tilstand |
| HYDINHYDIN axonemal central pair apparatus protein | Sjelden (1–4%) | I 1 tilstand |
| LRRC56leucine rich repeat containing 56 | Sjelden (1–4%) | I 1 tilstand |
| MCIDASmulticiliate differentiation and DNA synthesis associated cell cycle protein | Sjelden (1–4%) | I 1 tilstand |
| MTHFRmethylenetetrahydrofolate reductase | Sjelden (1–4%) | I 1 tilstand |
| NEK10NIMA related kinase 10 | Sjelden (1–4%) | I 1 tilstand |
| NME5NME/NM23 family member 5 | Sjelden (1–4%) | I 1 tilstand |
| NME8NME/NM23 family member 8 | Sjelden (1–4%) | I 1 tilstand |
| ODAD1outer dynein arm docking complex subunit 1 | Sjelden (1–4%) | I 1 tilstand |
| ODAD2outer dynein arm docking complex subunit 2 | Sjelden (1–4%) | I 1 tilstand |
| ODAD3outer dynein arm docking complex subunit 3 | Sjelden (1–4%) | I 1 tilstand |
| ODAD4outer dynein arm docking complex subunit 4 | Sjelden (1–4%) | I 1 tilstand |
| RPGRretinitis pigmentosa GTPase regulator | Sjelden (1–4%) | I 1 tilstand |
| RSPH1radial spoke head component 1 | Sjelden (1–4%) | I 1 tilstand |
| RSPH3radial spoke head 3 | Sjelden (1–4%) | I 1 tilstand |
| RSPH4Aradial spoke head component 4A | Sjelden (1–4%) | I 1 tilstand |
| RSPH9radial spoke head component 9 | Sjelden (1–4%) | I 1 tilstand |
| SPAG1sperm associated antigen 1 | Sjelden (1–4%) | I 1 tilstand |
| SPEF2sperm flagellar and cilia associated 2 | Sjelden (1–4%) | I 1 tilstand |
| STK36serine/threonine kinase 36 | Sjelden (1–4%) | I 1 tilstand |
| TTC12tetratricopeptide repeat domain 12 | Sjelden (1–4%) | I 1 tilstand |
| VPS37AVPS37A subunit of ESCRT-I | Sjelden (1–4%) | I 1 tilstand |
| ZMYND10zinc finger MYND-type containing 10 | Sjelden (1–4%) | I 1 tilstand |
| AP4B1adaptor related protein complex 4 subunit beta 1 | Ikke registrert | I 1 tilstand |
| ARHGAP31Rho GTPase activating protein 31 | Ikke registrert | I 1 tilstand |
| BICD2BICD cargo adaptor 2 | Ikke registrert | I 1 tilstand |
| BLTP1bridge-like lipid transfer protein family member 1 | Ikke registrert | I 1 tilstand |
| BMP4bone morphogenetic protein 4 | Ikke registrert | I 1 tilstand |
| C12orf57chromosome 12 open reading frame 57 | Ikke registrert | I 1 tilstand |
| CHD3chromodomain helicase DNA binding protein 3 | Ikke registrert | I 1 tilstand |
| COL4A2collagen type IV alpha 2 chain | Ikke registrert | I 1 tilstand |
| CPLX1complexin 1 | Ikke registrert | I 1 tilstand |
| CTBP1C-terminal binding protein 1 | Ikke registrert | I 1 tilstand |
| CUL4Bcullin 4B | Ikke registrert | I 1 tilstand |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Ikke registrert | I 1 tilstand |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Ikke registrert | I 1 tilstand |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Ikke registrert | I 1 tilstand |
| FGFRL1fibroblast growth factor receptor like 1 | Ikke registrert | I 1 tilstand |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Ikke registrert | I 1 tilstand |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Ikke registrert | I 2 tilstander |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Ikke registrert | I 1 tilstand |
| GNAO1G protein subunit alpha o1 | Ikke registrert | I 1 tilstand |
| HEPACAMhepatic and glial cell adhesion molecule | Ikke registrert | I 1 tilstand |
| HTRA2HtrA serine peptidase 2 | Ikke registrert | I 1 tilstand |
| JAM3junctional adhesion molecule 3 | Ikke registrert | I 1 tilstand |
| KANK1KN motif and ankyrin repeat domains 1 | Ikke registrert | I 1 tilstand |
| KIF7kinesin family member 7 | Ikke registrert | I 1 tilstand |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Ikke registrert | I 1 tilstand |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Ikke registrert | I 1 tilstand |
| MOCS1molybdenum cofactor synthesis 1 | Ikke registrert | I 1 tilstand |
| MOCS2molybdenum cofactor synthesis 2 | Ikke registrert | I 1 tilstand |
| MSL3MSL complex subunit 3 | Ikke registrert | I 1 tilstand |
| NSD2nuclear receptor binding SET domain protein 2 | Ikke registrert | I 1 tilstand |
| OCLNoccludin | Ikke registrert | I 1 tilstand |
| OSGEPO-sialoglycoprotein endopeptidase | Ikke registrert | I 1 tilstand |
| PAX6paired box 6 | Ikke registrert | I 1 tilstand |
| QARS1glutaminyl-tRNA synthetase 1 | Ikke registrert | I 1 tilstand |
| RAC3Rac family small GTPase 3 | Ikke registrert | I 1 tilstand |
| ROGDIrogdi atypical leucine zipper | Ikke registrert | I 1 tilstand |
| SETD2SET domain containing 2, histone lysine methyltransferase | Ikke registrert | I 1 tilstand |
| SHHsonic hedgehog signaling molecule | Ikke registrert | I 1 tilstand |
| SLC25A1solute carrier family 25 member 1 | Ikke registrert | I 1 tilstand |
| SLC6A9solute carrier family 6 member 9 | Ikke registrert | I 1 tilstand |
| SUMF1sulfatase modifying factor 1 | Ikke registrert | I 1 tilstand |
| TAPT1transmembrane anterior posterior transformation 1 | Ikke registrert | I 1 tilstand |
| TBC1D24TBC1 domain family member 24 | Ikke registrert | I 1 tilstand |
| TMEM107transmembrane protein 107 | Ikke registrert | I 1 tilstand |
| TNNI3troponin I3, cardiac type | Ikke registrert | I 1 tilstand |
| TNPO2transportin 2 | Ikke registrert | I 1 tilstand |
| UBE3Bubiquitin protein ligase E3B | Ikke registrert | I 1 tilstand |
| UGDHUDP-glucose 6-dehydrogenase | Ikke registrert | I 1 tilstand |
| WDR73WD repeat domain 73 | Ikke registrert | I 1 tilstand |
| XRCC4X-ray repair cross complementing 4 | Ikke registrert | I 1 tilstand |
| ZC4H2zinc finger C4H2-type containing | Ikke registrert | I 1 tilstand |
| ZEB2zinc finger E-box binding homeobox 2 | Ikke registrert | I 1 tilstand |
| ZMIZ1zinc finger MIZ-type containing 1 | 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