Træk
Too much cerebrospinal fluid in the brain
Klinisk navn: Hydrocephalus
Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.
Resumé
- Også kaldet
- Hydrocephaly, Nonsyndromal hydrocephalus
- Kropssystem
- Abnormality of the nervous system
ReferencegenomGRCh38hg38
Positioner på gen- og variantsider følger dette valg i denne browser.
Read the genes linked to Too much cerebrospinal fluid in the brain, and the rest of your genome, with one test.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger
Bestil min Genome Test409 gener knyttet til Too much cerebrospinal fluid in the brain
Ændringer i disse gener forårsager sjældne tilstande, hvor Too much cerebrospinal fluid in the brain 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 |
|---|---|---|
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Altid | I 1 tilstand |
| B4GALT1beta-1,4-galactosyltransferase 1 | Altid | I 2 tilstande |
| BLTP1bridge-like lipid transfer protein family member 1 | Altid | I 1 tilstand |
| CC2D2Acoiled-coil and C2 domain containing 2A | Altid | I 5 tilstande |
| CCDC88Ccoiled-coil and HOOK domain protein 88C | Altid | I 1 tilstand |
| CILK1ciliogenesis associated kinase 1 | Altid | I 2 tilstande |
| CRPPACDP-L-ribitol pyrophosphorylase A | Altid | I 3 tilstande |
| CST3cystatin C | Altid | I 1 tilstand |
| EML1EMAP like 1 | Altid | I 1 tilstand |
| FBN1fibrillin 1 | Altid | I 1 tilstand |
| FBXL4F-box and leucine rich repeat protein 4 | Altid | I 1 tilstand |
| FGFR2fibroblast growth factor receptor 2 | Altid | I 9 tilstande |
| FGFR3fibroblast growth factor receptor 3 | Altid | I 9 tilstande |
| FKRPfukutin related protein | Altid | I 5 tilstande |
| FLVCR1FLVCR choline and heme transporter 1 | Altid | I 1 tilstand |
| GTPBP2GTP binding protein 2 | Altid | I 1 tilstand |
| HES7hes family bHLH transcription factor 7 | Altid | I 1 tilstand |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Altid | I 1 tilstand |
| L1CAML1 cell adhesion molecule | Altid | I 4 tilstande |
| LAMB1laminin subunit beta 1 | Altid | I 2 tilstande |
| MPDZmultiple PDZ domain crumbs cell polarity complex component | Altid | I 1 tilstand |
| NADK2NAD kinase 2, mitochondrial | Altid | I 1 tilstand |
| PIK3R2phosphoinositide-3-kinase regulatory subunit 2 | Altid | I 2 tilstande |
| PLGplasminogen | Altid | I 2 tilstande |
| POLR1ARNA polymerase I subunit A | Altid | I 1 tilstand |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Altid | I 4 tilstande |
| POMKprotein O-mannose kinase | Altid | I 3 tilstande |
| POMT2protein O-mannosyltransferase 2 | Altid | I 5 tilstande |
| RAD51RAD51 recombinase | Altid | I 2 tilstande |
| SPINK5serine peptidase inhibitor Kazal type 5 | Altid | I 1 tilstand |
| SPOUT1SPOUT domain containing methyltransferase 1 | Altid | I 1 tilstand |
| YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | Altid | I 1 tilstand |
| ZFPM2zinc finger protein, FOG family member 2 | Altid | I 1 tilstand |
| ZPR1ZPR1 zinc finger | Altid | I 1 tilstand |
| ZRSR2zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 | Altid | I 1 tilstand |
| AKT3AKT serine/threonine kinase 3 | Meget ofte (80–99 %) | I 2 tilstande |
| 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 3 tilstande |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Meget ofte (80–99 %) | I 2 tilstande |
| CCND2cyclin D2 | Meget ofte (80–99 %) | I 2 tilstande |
Vis 369 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| CLCN7Cl-/H+ antiporter 7 | Meget ofte (80–99 %) | I 2 tilstande |
| COL4A1collagen type IV alpha 1 chain | Meget ofte (80–99 %) | I 2 tilstande |
| DAG1dystroglycan 1 | Meget ofte (80–99 %) | I 2 tilstande |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Meget ofte (80–99 %) | I 1 tilstand |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Meget ofte (80–99 %) | I 1 tilstand |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Meget ofte (80–99 %) | I 2 tilstande |
| ERCC5ERCC excision repair 5, endonuclease | Meget ofte (80–99 %) | I 1 tilstand |
| ESAMendothelial cell adhesion molecule | Meget ofte (80–99 %) | I 1 tilstand |
| FANCBFA complementation group B | Meget ofte (80–99 %) | I 3 tilstande |
| FKTNfukutin | Meget ofte (80–99 %) | I 5 tilstande |
| GMPPBGDP-mannose pyrophosphorylase B | Meget ofte (80–99 %) | I 2 tilstande |
| HDAC6histone deacetylase 6 | Meget ofte (80–99 %) | I 2 tilstande |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Meget ofte (80–99 %) | I 2 tilstande |
| KIF7kinesin family member 7 | Meget ofte (80–99 %) | I 2 tilstande |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Meget ofte (80–99 %) | I 4 tilstande |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Meget ofte (80–99 %) | I 1 tilstand |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Meget ofte (80–99 %) | I 2 tilstande |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Meget ofte (80–99 %) | I 2 tilstande |
| POMT1protein O-mannosyltransferase 1 | Meget ofte (80–99 %) | I 5 tilstande |
| PTENphosphatase and tensin homolog | Meget ofte (80–99 %) | I 2 tilstande |
| RSPO2R-spondin 2 | Meget ofte (80–99 %) | I 1 tilstand |
| RXYLT1ribitol xylosyltransferase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| SEC24DSEC24 homolog D, COPII component | Meget ofte (80–99 %) | I 1 tilstand |
| SNX10sorting nexin 10 | Meget ofte (80–99 %) | I 1 tilstand |
| TBX4T-box transcription factor 4 | Meget ofte (80–99 %) | I 1 tilstand |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Meget ofte (80–99 %) | I 2 tilstande |
| TNFSF11TNF superfamily member 11 | Meget ofte (80–99 %) | I 2 tilstande |
| TP53tumor protein p53 | Meget ofte (80–99 %) | I 2 tilstande |
| WDR81WD repeat domain 81 | Meget ofte (80–99 %) | I 1 tilstand |
| WNT3Wnt family member 3 | Meget ofte (80–99 %) | I 2 tilstande |
| ZBTB20zinc finger and BTB domain containing 20 | Meget ofte (80–99 %) | I 1 tilstand |
| ZIC1Zic family zinc finger 1 | Meget ofte (80–99 %) | I 1 tilstand |
| ZIC4Zic family zinc finger 4 | Meget ofte (80–99 %) | I 1 tilstand |
| ALDH7A1aldehyde dehydrogenase 7 family member A1 | Ofte (30–79 %) | I 1 tilstand |
| ARHGAP31Rho GTPase activating protein 31 | Ofte (30–79 %) | I 1 tilstand |
| B3GALT6beta-1,3-galactosyltransferase 6 | Ofte (30–79 %) | I 1 tilstand |
| B3GLCTbeta 3-glucosyltransferase | Ofte (30–79 %) | I 2 tilstande |
| CASP2caspase 2 | Ofte (30–79 %) | I 1 tilstand |
| CCDC22CCC complex scaffolding subunit CCDC22 | Ofte (30–79 %) | I 1 tilstand |
| COL18A1collagen type XVIII alpha 1 chain | Ofte (30–79 %) | I 1 tilstand |
| CSF1Rcolony stimulating factor 1 receptor | Ofte (30–79 %) | I 1 tilstand |
| CYP26C1cytochrome P450 family 26 subfamily C member 1 | Ofte (30–79 %) | I 1 tilstand |
| DENND5ADENN domain containing 5A | Ofte (30–79 %) | I 1 tilstand |
| DLL4delta like canonical Notch ligand 4 | Ofte (30–79 %) | I 1 tilstand |
| DOCK6dedicator of cytokinesis 6 | Ofte (30–79 %) | I 2 tilstande |
| DPH1diphthamide biosynthesis 1 | Ofte (30–79 %) | I 1 tilstand |
| DPH2diphthamide biosynthesis 2 | Ofte (30–79 %) | I 1 tilstand |
| DPYSL5dihydropyrimidinase like 5 | Ofte (30–79 %) | I 1 tilstand |
| EBPEBP cholestenol delta-isomerase | Ofte (30–79 %) | I 2 tilstande |
| EOGTEGF domain specific O-linked N-acetylglucosamine transferase | Ofte (30–79 %) | I 1 tilstand |
| FAAP100FA core complex associated protein 100 | Ofte (30–79 %) | I 2 tilstande |
| FAM111AFAM111 trypsin like peptidase A | Ofte (30–79 %) | I 1 tilstand |
| FANCLFA complementation group L | Ofte (30–79 %) | I 2 tilstande |
| FLNAfilamin A | Ofte (30–79 %) | I 2 tilstande |
| FLVCR2FLVCR choline and putative heme transporter 2 | Ofte (30–79 %) | I 1 tilstand |
| FTOFTO alpha-ketoglutarate dependent dioxygenase | Ofte (30–79 %) | I 1 tilstand |
| GPSM2G protein signaling modulator 2 | Ofte (30–79 %) | I 1 tilstand |
| GRIP1glutamate receptor interacting protein 1 | Ofte (30–79 %) | I 1 tilstand |
| H4C9H4 clustered histone 9 | Ofte (30–79 %) | I 1 tilstand |
| HBA1hemoglobin subunit alpha 1 | Ofte (30–79 %) | I 1 tilstand |
| HBA2hemoglobin subunit alpha 2 | Ofte (30–79 %) | I 1 tilstand |
| IDUAalpha-L-iduronidase | Ofte (30–79 %) | I 2 tilstande |
| IFT43intraflagellar transport 43 | Ofte (30–79 %) | I 1 tilstand |
| KDM6Alysine demethylase 6A | Ofte (30–79 %) | I 2 tilstande |
| KDM6Blysine demethylase 6B | Ofte (30–79 %) | I 1 tilstand |
| KMT2Dlysine methyltransferase 2D | Ofte (30–79 %) | I 2 tilstande |
| MAFMAF bZIP transcription factor | Ofte (30–79 %) | I 1 tilstand |
| NFIXnuclear factor I X | Ofte (30–79 %) | I 1 tilstand |
| NKX3-2NK3 homeobox 2 | Ofte (30–79 %) | I 1 tilstand |
| NOTCH1notch receptor 1 | Ofte (30–79 %) | I 1 tilstand |
| OGDHoxoglutarate dehydrogenase | Ofte (30–79 %) | I 1 tilstand |
| PAK2p21 (RAC1) activated kinase 2 | Ofte (30–79 %) | I 1 tilstand |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Ofte (30–79 %) | I 1 tilstand |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Ofte (30–79 %) | I 1 tilstand |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Ofte (30–79 %) | I 3 tilstande |
| PLCH1phospholipase C eta 1 | Ofte (30–79 %) | I 2 tilstande |
| POLR3ARNA polymerase III subunit A | Ofte (30–79 %) | I 2 tilstande |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Ofte (30–79 %) | I 1 tilstand |
| PPP2R1Aprotein phosphatase 2 scaffold subunit Aalpha | Ofte (30–79 %) | I 2 tilstande |
| PTCH1patched 1 | Ofte (30–79 %) | I 8 tilstande |
| PYCR1pyrroline-5-carboxylate reductase 1 | Ofte (30–79 %) | I 1 tilstand |
| RBPJrecombination signal binding protein for immunoglobulin kappa J region | Ofte (30–79 %) | I 1 tilstand |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Ofte (30–79 %) | I 1 tilstand |
| SIK3SIK family kinase 3 | Ofte (30–79 %) | I 1 tilstand |
| SKISKI proto-oncogene | Ofte (30–79 %) | I 1 tilstand |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Ofte (30–79 %) | I 2 tilstande |
| SUFUSUFU negative regulator of hedgehog signaling | Ofte (30–79 %) | I 4 tilstande |
| SUMF1sulfatase modifying factor 1 | Ofte (30–79 %) | I 2 tilstande |
| TBCKTBC1 domain containing kinase | Ofte (30–79 %) | I 1 tilstand |
| TMEM237transmembrane protein 237 | Ofte (30–79 %) | I 5 tilstande |
| TMTC3transmembrane O-mannosyltransferase targeting cadherins 3 | Ofte (30–79 %) | I 1 tilstand |
| VPS35LVPS35 endosomal protein sorting factor like | Ofte (30–79 %) | I 1 tilstand |
| VSX1visual system homeobox 1 | Ofte (30–79 %) | I 1 tilstand |
| WASHC5WASH complex subunit 5 | Ofte (30–79 %) | I 2 tilstande |
| ZNHIT3zinc finger HIT-type containing 3 | Ofte (30–79 %) | I 1 tilstand |
| AHI1Abelson helper integration site 1 | Nogle gange (5–29 %) | I 2 tilstande |
| AIPAHR interacting HSP90 co-chaperone | Nogle gange (5–29 %) | I 1 tilstand |
| AKT1AKT serine/threonine kinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ALKALK receptor tyrosine kinase | Nogle gange (5–29 %) | I 1 tilstand |
| ARL13BARF like GTPase 13B | Nogle gange (5–29 %) | I 1 tilstand |
| ARL3ARF like GTPase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| ARMC9armadillo repeat containing 9 | Nogle gange (5–29 %) | I 1 tilstand |
| ARVCFARVCF delta catenin family member | Nogle gange (5–29 %) | I 1 tilstand |
| B9D1B9 domain containing 1 | Nogle gange (5–29 %) | I 2 tilstande |
| B9D2B9 domain containing 2 | Nogle gange (5–29 %) | I 2 tilstande |
| BAP1BRCA1 associated deubiquitinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Nogle gange (5–29 %) | I 4 tilstande |
| BRCA1BRCA1 DNA repair associated | Nogle gange (5–29 %) | I 1 tilstand |
| BRCA2BRCA2 DNA repair associated | Nogle gange (5–29 %) | I 1 tilstand |
| BRIP1BRCA1 interacting DNA helicase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CBY1chibby 1, beta catenin antagonist | Nogle gange (5–29 %) | I 1 tilstand |
| CD4CD4 molecule | Nogle gange (5–29 %) | I 1 tilstand |
| CDC40cell division cycle 40 | Nogle gange (5–29 %) | I 1 tilstand |
| CDONcell adhesion associated, oncogene regulated | Nogle gange (5–29 %) | I 4 tilstande |
| CEP104centrosomal protein 104 | Nogle gange (5–29 %) | I 1 tilstand |
| CEP120centrosomal protein 120 | Nogle gange (5–29 %) | I 2 tilstande |
| CEP290centrosomal protein 290 | Nogle gange (5–29 %) | I 3 tilstande |
| CEP41centrosomal protein 41 | Nogle gange (5–29 %) | I 2 tilstande |
| CEP83centrosomal protein 83 | Nogle gange (5–29 %) | I 1 tilstand |
| CLCN3Cl-/H+ antiporter 3 | Nogle gange (5–29 %) | I 1 tilstand |
| COG6component of oligomeric golgi complex 6 | Nogle gange (5–29 %) | I 1 tilstand |
| COMTcatechol-O-methyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| COX7Bcytochrome c oxidase subunit 7B | Nogle gange (5–29 %) | I 2 tilstande |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CPLX1complexin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CPT2carnitine palmitoyltransferase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| CRIPTOcripto, EGF-CFC family member | Nogle gange (5–29 %) | I 4 tilstande |
| CSPP1centrosome and spindle pole associated protein 1 | Nogle gange (5–29 %) | I 2 tilstande |
| CTBP1C-terminal binding protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CTNNB1catenin beta 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DCCDCC netrin 1 receptor | Nogle gange (5–29 %) | I 1 tilstand |
| DHCR2424-dehydrocholesterol reductase | Nogle gange (5–29 %) | I 2 tilstande |
| DISP1dispatched RND transporter family member 1 | Nogle gange (5–29 %) | I 4 tilstande |
| DLL1delta like canonical Notch ligand 1 | Nogle gange (5–29 %) | I 5 tilstande |
| FAM20CFAM20C golgi associated secretory pathway kinase | 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 2 tilstande |
| 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 |
| FANCMFA complementation group M | Nogle gange (5–29 %) | I 1 tilstand |
| FBXO22F-box protein 22 | Nogle gange (5–29 %) | I 1 tilstand |
| FGF8fibroblast growth factor 8 | Nogle gange (5–29 %) | I 4 tilstande |
| FGFR1fibroblast growth factor receptor 1 | Nogle gange (5–29 %) | I 4 tilstande |
| FGFRL1fibroblast growth factor receptor like 1 | Nogle gange (5–29 %) | I 1 tilstand |
| FIG4FIG4 phosphoinositide 5-phosphatase | Nogle gange (5–29 %) | I 1 tilstand |
| FOXH1forkhead box H1 | Nogle gange (5–29 %) | I 4 tilstande |
| GALCgalactosylceramidase | Nogle gange (5–29 %) | I 2 tilstande |
| GAS1growth arrest specific 1 | Nogle gange (5–29 %) | I 4 tilstande |
| GBA1glucosylceramidase beta 1 | Nogle gange (5–29 %) | I 3 tilstande |
| GCDHglutaryl-CoA dehydrogenase | Nogle gange (5–29 %) | I 1 tilstand |
| GFAPglial fibrillary acidic protein | Nogle gange (5–29 %) | I 2 tilstande |
| GLI2GLI family zinc finger 2 | Nogle gange (5–29 %) | I 5 tilstande |
| GLI3GLI family zinc finger 3 | Nogle gange (5–29 %) | I 2 tilstande |
| GNAQG protein subunit alpha q | Nogle gange (5–29 %) | I 1 tilstand |
| GP1BBglycoprotein Ib platelet subunit beta | Nogle gange (5–29 %) | I 1 tilstand |
| GPR101G protein-coupled receptor 101 | Nogle gange (5–29 %) | I 1 tilstand |
| HCCSholocytochrome c synthase | Nogle gange (5–29 %) | I 2 tilstande |
| HIRAhistone cell cycle regulator | Nogle gange (5–29 %) | I 1 tilstand |
| HNRNPUheterogeneous nuclear ribonucleoprotein U | Nogle gange (5–29 %) | I 1 tilstand |
| HSPG2heparan sulfate proteoglycan 2 | Nogle gange (5–29 %) | I 1 tilstand |
| IFT172intraflagellar transport 172 | Nogle gange (5–29 %) | I 1 tilstand |
| IFT56intraflagellar transport 56 | Nogle gange (5–29 %) | I 1 tilstand |
| IFT74intraflagellar transport 74 | Nogle gange (5–29 %) | I 1 tilstand |
| INPP5Einositol polyphosphate-5-phosphatase E | Nogle gange (5–29 %) | I 3 tilstande |
| IRF4interferon regulatory factor 4 | Nogle gange (5–29 %) | I 1 tilstand |
| JMJD1Cjumonji domain containing 1C | Nogle gange (5–29 %) | I 1 tilstand |
| KATNIPkatanin interacting protein | Nogle gange (5–29 %) | I 1 tilstand |
| KDM2Blysine demethylase 2B | Nogle gange (5–29 %) | I 1 tilstand |
| KIAA0586KIAA0586 | Nogle gange (5–29 %) | I 2 tilstande |
| KIAA0753KIAA0753 | Nogle gange (5–29 %) | I 1 tilstand |
| KIF26Akinesin family member 26A | Nogle gange (5–29 %) | I 1 tilstand |
| KRASKRas proto-oncogene, GTPase | Nogle gange (5–29 %) | I 2 tilstande |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| LMBR1limb development membrane protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MAD2L2mitotic arrest deficient 2 like 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MAP2K1mitogen-activated protein kinase kinase 1 | Nogle gange (5–29 %) | I 2 tilstande |
| MAP2K2mitogen-activated protein kinase kinase 2 | Nogle gange (5–29 %) | I 2 tilstande |
| MED12mediator complex subunit 12 | Nogle gange (5–29 %) | I 2 tilstande |
| MKS1MKS transition zone complex subunit 1 | Nogle gange (5–29 %) | I 4 tilstande |
| MNX1motor neuron and pancreas homeobox 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MTRR5-methyltetrahydrofolate-homocysteine methyltransferase reductase | Nogle gange (5–29 %) | I 1 tilstand |
| MYT1Lmyelin transcription factor 1 like | Nogle gange (5–29 %) | I 1 tilstand |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Nogle gange (5–29 %) | I 2 tilstande |
| NEK1NIMA related kinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NEU1neuraminidase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NF2NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | Nogle gange (5–29 %) | I 2 tilstande |
| NODALnodal growth differentiation factor | Nogle gange (5–29 %) | I 4 tilstande |
| NOTCH2notch receptor 2 | Nogle gange (5–29 %) | I 2 tilstande |
| NOTCH3notch receptor 3 | Nogle gange (5–29 %) | I 1 tilstand |
| NPHP1nephrocystin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NRASNRAS proto-oncogene, GTPase | Nogle gange (5–29 %) | I 2 tilstande |
| NRCAMneuronal cell adhesion molecule | Nogle gange (5–29 %) | I 1 tilstand |
| NSD2nuclear receptor binding SET domain protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| OFD1OFD1 centriole and centriolar satellite protein | Nogle gange (5–29 %) | I 3 tilstande |
| PAK3p21 (RAC1) activated kinase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| PALB2partner and localizer of BRCA2 | Nogle gange (5–29 %) | I 1 tilstand |
| PDE6Dphosphodiesterase 6D | Nogle gange (5–29 %) | I 1 tilstand |
| PDGFBplatelet derived growth factor subunit B | Nogle gange (5–29 %) | I 1 tilstand |
| PIBF1progesterone immunomodulatory binding factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PORcytochrome p450 oxidoreductase | Nogle gange (5–29 %) | I 2 tilstande |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Nogle gange (5–29 %) | I 1 tilstand |
| PRKAG2protein kinase AMP-activated non-catalytic subunit gamma 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PSAPprosaposin | Nogle gange (5–29 %) | I 1 tilstand |
| PTCH2patched 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PTDSS1phosphatidylserine synthase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RAC3Rac family small GTPase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| RAD51CRAD51 paralog C | Nogle gange (5–29 %) | I 1 tilstand |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Nogle gange (5–29 %) | I 1 tilstand |
| RECQL4RecQ like helicase 4 | Nogle gange (5–29 %) | I 1 tilstand |
| RFWD3ring finger and WD repeat domain 3 | Nogle gange (5–29 %) | I 1 tilstand |
| RNF125ring finger protein 125 | Nogle gange (5–29 %) | I 1 tilstand |
| RNU4ATACRNA, U4atac small nuclear | Nogle gange (5–29 %) | I 1 tilstand |
| ROBO1roundabout guidance receptor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ROGDIrogdi atypical leucine zipper | Nogle gange (5–29 %) | I 1 tilstand |
| RPGRIP1RPGR interacting protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RPGRIP1LRPGRIP1 like | Nogle gange (5–29 %) | I 3 tilstande |
| RREB1ras responsive element binding protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SALL1spalt like transcription factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SAMD9sterile alpha motif domain containing 9 | Nogle gange (5–29 %) | I 1 tilstand |
| SEC24CSEC24 homolog C, COPII component | Nogle gange (5–29 %) | I 1 tilstand |
| SHHsonic hedgehog signaling molecule | Nogle gange (5–29 %) | I 4 tilstande |
| SIX3SIX homeobox 3 | Nogle gange (5–29 %) | I 4 tilstande |
| SLC13A5solute carrier family 13 member 5 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC29A3solute carrier family 29 member 3 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC32A1solute carrier family 32 member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SLX4SLX4 structure-specific endonuclease subunit | Nogle gange (5–29 %) | I 1 tilstand |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Nogle gange (5–29 %) | I 1 tilstand |
| SMC1Astructural maintenance of chromosomes 1A | Nogle gange (5–29 %) | I 1 tilstand |
| SMOsmoothened, frizzled class receptor | Nogle gange (5–29 %) | I 2 tilstande |
| SMOC1SPARC related modular calcium binding 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SOX2SRY-box transcription factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SOX5SRY-box transcription factor 5 | Nogle gange (5–29 %) | I 1 tilstand |
| STAG2STAG2 cohesin complex component | Nogle gange (5–29 %) | I 2 tilstande |
| STILSTIL centriolar assembly protein | Nogle gange (5–29 %) | I 4 tilstande |
| TAF2TATA-box binding protein associated factor 2 | Nogle gange (5–29 %) | I 2 tilstande |
| TAOK1TAO kinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TBX1T-box transcription factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TCOF1treacle ribosome biogenesis factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TCTN1tectonic family member 1 | Nogle gange (5–29 %) | I 2 tilstande |
| TCTN2tectonic family member 2 | Nogle gange (5–29 %) | I 2 tilstande |
| TCTN3tectonic family member 3 | Nogle gange (5–29 %) | I 2 tilstande |
| TERTtelomerase reverse transcriptase | Nogle gange (5–29 %) | I 1 tilstand |
| TGFBR1transforming growth factor beta receptor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TGFBR2transforming growth factor beta receptor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| TGIF1TGFB induced factor homeobox 1 | Nogle gange (5–29 %) | I 4 tilstande |
| TMEM107transmembrane protein 107 | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM138transmembrane protein 138 | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM216transmembrane protein 216 | Nogle gange (5–29 %) | I 3 tilstande |
| TMEM218transmembrane protein 218 | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM222transmembrane protein 222 | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM231transmembrane protein 231 | Nogle gange (5–29 %) | I 2 tilstande |
| TMEM67transmembrane protein 67 | Nogle gange (5–29 %) | I 4 tilstande |
| TNFRSF11ATNF receptor superfamily member 11a | Nogle gange (5–29 %) | I 1 tilstand |
| TOE1target of EGR1, exonuclease | Nogle gange (5–29 %) | I 1 tilstand |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TRAF7TNF receptor associated factor 7 | Nogle gange (5–29 %) | I 1 tilstand |
| TREM2triggering receptor expressed on myeloid cells 2 | Nogle gange (5–29 %) | I 1 tilstand |
| TRMT1tRNA methyltransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Nogle gange (5–29 %) | I 1 tilstand |
| TSC1TSC complex subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TSC2TSC complex subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| TXNDC15thioredoxin domain containing 15 | Nogle gange (5–29 %) | I 1 tilstand |
| TYROBPtransmembrane immune signaling adaptor TYROBP | Nogle gange (5–29 %) | I 1 tilstand |
| UBE2Tubiquitin conjugating enzyme E2 T | Nogle gange (5–29 %) | I 1 tilstand |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Nogle gange (5–29 %) | I 1 tilstand |
| UNC45Aunc-45 myosin chaperone A | Nogle gange (5–29 %) | I 1 tilstand |
| USP7ubiquitin specific peptidase 7 | Nogle gange (5–29 %) | I 1 tilstand |
| VAC14VAC14 component of PIKFYVE complex | Nogle gange (5–29 %) | I 1 tilstand |
| VANGL1VANGL planar cell polarity protein 1 | Nogle gange (5–29 %) | I 2 tilstande |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Nogle gange (5–29 %) | I 1 tilstand |
| XRCC2X-ray repair cross complementing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ZEB2zinc finger E-box binding homeobox 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ZIC2Zic family zinc finger 2 | Nogle gange (5–29 %) | I 5 tilstande |
| ZIC3Zic family zinc finger 3 | Nogle gange (5–29 %) | I 2 tilstande |
| ZNF423zinc finger protein 423 | Nogle gange (5–29 %) | I 1 tilstand |
| ACBD6acyl-CoA binding domain containing 6 | 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 |
| 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 |
| MFN2mitofusin 2 | Sjældent (1–4%) | I 1 tilstand |
| MMACHCmetabolism of cobalamin associated C | Sjældent (1–4%) | I 2 tilstande |
| MT-CYBmitochondrially encoded cytochrome b | Sjældent (1–4%) | I 1 tilstand |
| MTHFRmethylenetetrahydrofolate reductase | Sjældent (1–4%) | I 1 tilstand |
| NEK10NIMA related kinase 10 | Sjældent (1–4%) | I 1 tilstand |
| NF1neurofibromin 1 | Sjældent (1–4%) | I 2 tilstande |
| 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 |
| SPTBN1spectrin beta, non-erythrocytic 1 | 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 |
| ZMYND10zinc finger MYND-type containing 10 | Sjældent (1–4%) | I 1 tilstand |
| AMER1APC membrane recruitment protein 1 | Ikke registreret | I 1 tilstand |
| ARSBarylsulfatase B | Ikke registreret | I 1 tilstand |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Ikke registreret | I 1 tilstand |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Ikke registreret | I 1 tilstand |
| CENPFcentromere protein F | Ikke registreret | I 1 tilstand |
| CHST3carbohydrate sulfotransferase 3 | Ikke registreret | I 1 tilstand |
| CRB2crumbs cell polarity complex component 2 | Ikke registreret | I 1 tilstand |
| DHCR77-dehydrocholesterol reductase | Ikke registreret | I 1 tilstand |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Ikke registreret | I 1 tilstand |
| FRAS1Fraser extracellular matrix complex subunit 1 | Ikke registreret | I 1 tilstand |
| FUZfuzzy planar cell polarity protein | Ikke registreret | I 1 tilstand |
| GPC3glypican 3 | Ikke registreret | I 1 tilstand |
| GUSBglucuronidase beta | Ikke registreret | I 1 tilstand |
| HRASHRas proto-oncogene, GTPase | Ikke registreret | I 1 tilstand |
| IDSiduronate 2-sulfatase | Ikke registreret | I 1 tilstand |
| MTM1myotubularin 1 | Ikke registreret | I 1 tilstand |
| MUSKmuscle associated receptor tyrosine kinase | Ikke registreret | I 1 tilstand |
| P4HBprolyl 4-hydroxylase subunit beta | Ikke registreret | I 1 tilstand |
| PEX19peroxisomal biogenesis factor 19 | Ikke registreret | I 1 tilstand |
| PORCNporcupine O-acyltransferase | Ikke registreret | I 1 tilstand |
| PRDX1peroxiredoxin 1 | Ikke registreret | I 1 tilstand |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Ikke registreret | I 1 tilstand |
| RNASEH2Aribonuclease H2 subunit A | Ikke registreret | I 1 tilstand |
| SF3B2splicing factor 3b subunit 2 | Ikke registreret | I 1 tilstand |
| SF3B4splicing factor 3b subunit 4 | Ikke registreret | I 1 tilstand |
| SLC17A5solute carrier family 17 member 5 | Ikke registreret | I 1 tilstand |
| SLC25A24solute carrier family 25 member 24 | Ikke registreret | I 1 tilstand |
| SOX9SRY-box transcription factor 9 | Ikke registreret | I 1 tilstand |
| TBX15T-box transcription factor 15 | Ikke registreret | I 1 tilstand |
| TBXTT-box transcription factor T | Ikke registreret | I 1 tilstand |
| VANGL2VANGL planar cell polarity protein 2 | 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.
Én test. Svar for hele livet.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger