Egenskap
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.
Sammendrag
- Også kalt
- Hydrocephaly, Nonsyndromal hydrocephalus
- Kroppssystem
- Abnormality of the nervous system
ReferansegenomGRCh38hg38
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Endringer i disse genene forårsaker sjeldne tilstander der Too much cerebrospinal fluid in the brain 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 |
|---|---|---|
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Alltid | I 1 tilstand |
| B4GALT1beta-1,4-galactosyltransferase 1 | Alltid | I 2 tilstander |
| BLTP1bridge-like lipid transfer protein family member 1 | Alltid | I 1 tilstand |
| CC2D2Acoiled-coil and C2 domain containing 2A | Alltid | I 5 tilstander |
| CCDC88Ccoiled-coil and HOOK domain protein 88C | Alltid | I 1 tilstand |
| CILK1ciliogenesis associated kinase 1 | Alltid | I 2 tilstander |
| CRPPACDP-L-ribitol pyrophosphorylase A | Alltid | I 3 tilstander |
| CST3cystatin C | Alltid | I 1 tilstand |
| EML1EMAP like 1 | Alltid | I 1 tilstand |
| FBN1fibrillin 1 | Alltid | I 1 tilstand |
| FBXL4F-box and leucine rich repeat protein 4 | Alltid | I 1 tilstand |
| FGFR2fibroblast growth factor receptor 2 | Alltid | I 9 tilstander |
| FGFR3fibroblast growth factor receptor 3 | Alltid | I 9 tilstander |
| FKRPfukutin related protein | Alltid | I 5 tilstander |
| FLVCR1FLVCR choline and heme transporter 1 | Alltid | I 1 tilstand |
| GTPBP2GTP binding protein 2 | Alltid | I 1 tilstand |
| HES7hes family bHLH transcription factor 7 | Alltid | I 1 tilstand |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Alltid | I 1 tilstand |
| L1CAML1 cell adhesion molecule | Alltid | I 4 tilstander |
| LAMB1laminin subunit beta 1 | Alltid | I 2 tilstander |
| MPDZmultiple PDZ domain crumbs cell polarity complex component | Alltid | I 1 tilstand |
| NADK2NAD kinase 2, mitochondrial | Alltid | I 1 tilstand |
| PIK3R2phosphoinositide-3-kinase regulatory subunit 2 | Alltid | I 2 tilstander |
| PLGplasminogen | Alltid | I 2 tilstander |
| POLR1ARNA polymerase I subunit A | Alltid | I 1 tilstand |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Alltid | I 4 tilstander |
| POMKprotein O-mannose kinase | Alltid | I 3 tilstander |
| POMT2protein O-mannosyltransferase 2 | Alltid | I 5 tilstander |
| RAD51RAD51 recombinase | Alltid | I 2 tilstander |
| SPINK5serine peptidase inhibitor Kazal type 5 | Alltid | I 1 tilstand |
| SPOUT1SPOUT domain containing methyltransferase 1 | Alltid | I 1 tilstand |
| YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | Alltid | I 1 tilstand |
| ZFPM2zinc finger protein, FOG family member 2 | Alltid | I 1 tilstand |
| ZPR1ZPR1 zinc finger | Alltid | I 1 tilstand |
| ZRSR2zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 | Alltid | I 1 tilstand |
| AKT3AKT serine/threonine kinase 3 | Svært ofte (80–99 %) | I 2 tilstander |
| 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 3 tilstander |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Svært ofte (80–99 %) | I 2 tilstander |
| CCND2cyclin D2 | Svært ofte (80–99 %) | I 2 tilstander |
Vis 369 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| CLCN7Cl-/H+ antiporter 7 | Svært ofte (80–99 %) | I 2 tilstander |
| COL4A1collagen type IV alpha 1 chain | Svært ofte (80–99 %) | I 2 tilstander |
| DAG1dystroglycan 1 | Svært ofte (80–99 %) | I 2 tilstander |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Svært ofte (80–99 %) | I 1 tilstand |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Svært ofte (80–99 %) | I 1 tilstand |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Svært ofte (80–99 %) | I 2 tilstander |
| ERCC5ERCC excision repair 5, endonuclease | Svært ofte (80–99 %) | I 1 tilstand |
| ESAMendothelial cell adhesion molecule | Svært ofte (80–99 %) | I 1 tilstand |
| FANCBFA complementation group B | Svært ofte (80–99 %) | I 3 tilstander |
| FKTNfukutin | Svært ofte (80–99 %) | I 5 tilstander |
| GMPPBGDP-mannose pyrophosphorylase B | Svært ofte (80–99 %) | I 2 tilstander |
| HDAC6histone deacetylase 6 | Svært ofte (80–99 %) | I 2 tilstander |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Svært ofte (80–99 %) | I 2 tilstander |
| KIF7kinesin family member 7 | Svært ofte (80–99 %) | I 2 tilstander |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Svært ofte (80–99 %) | I 4 tilstander |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Svært ofte (80–99 %) | I 1 tilstand |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Svært ofte (80–99 %) | I 2 tilstander |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Svært ofte (80–99 %) | I 2 tilstander |
| POMT1protein O-mannosyltransferase 1 | Svært ofte (80–99 %) | I 5 tilstander |
| PTENphosphatase and tensin homolog | Svært ofte (80–99 %) | I 2 tilstander |
| RSPO2R-spondin 2 | Svært ofte (80–99 %) | I 1 tilstand |
| RXYLT1ribitol xylosyltransferase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| SEC24DSEC24 homolog D, COPII component | Svært ofte (80–99 %) | I 1 tilstand |
| SNX10sorting nexin 10 | Svært ofte (80–99 %) | I 1 tilstand |
| TBX4T-box transcription factor 4 | Svært ofte (80–99 %) | I 1 tilstand |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Svært ofte (80–99 %) | I 2 tilstander |
| TNFSF11TNF superfamily member 11 | Svært ofte (80–99 %) | I 2 tilstander |
| TP53tumor protein p53 | Svært ofte (80–99 %) | I 2 tilstander |
| WDR81WD repeat domain 81 | Svært ofte (80–99 %) | I 1 tilstand |
| WNT3Wnt family member 3 | Svært ofte (80–99 %) | I 2 tilstander |
| ZBTB20zinc finger and BTB domain containing 20 | Svært ofte (80–99 %) | I 1 tilstand |
| ZIC1Zic family zinc finger 1 | Svært ofte (80–99 %) | I 1 tilstand |
| ZIC4Zic family zinc finger 4 | Svært 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| FAM111AFAM111 trypsin like peptidase A | Ofte (30–79 %) | I 1 tilstand |
| FANCLFA complementation group L | Ofte (30–79 %) | I 2 tilstander |
| FLNAfilamin A | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| IFT43intraflagellar transport 43 | Ofte (30–79 %) | I 1 tilstand |
| KDM6Alysine demethylase 6A | Ofte (30–79 %) | I 2 tilstander |
| KDM6Blysine demethylase 6B | Ofte (30–79 %) | I 1 tilstand |
| KMT2Dlysine methyltransferase 2D | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| PLCH1phospholipase C eta 1 | Ofte (30–79 %) | I 2 tilstander |
| POLR3ARNA polymerase III subunit A | Ofte (30–79 %) | I 2 tilstander |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Ofte (30–79 %) | I 1 tilstand |
| PPP2R1Aprotein phosphatase 2 scaffold subunit Aalpha | Ofte (30–79 %) | I 2 tilstander |
| PTCH1patched 1 | Ofte (30–79 %) | I 8 tilstander |
| 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 tilstander |
| SUFUSUFU negative regulator of hedgehog signaling | Ofte (30–79 %) | I 4 tilstander |
| SUMF1sulfatase modifying factor 1 | Ofte (30–79 %) | I 2 tilstander |
| TBCKTBC1 domain containing kinase | Ofte (30–79 %) | I 1 tilstand |
| TMEM237transmembrane protein 237 | Ofte (30–79 %) | I 5 tilstander |
| 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 tilstander |
| ZNHIT3zinc finger HIT-type containing 3 | Ofte (30–79 %) | I 1 tilstand |
| AHI1Abelson helper integration site 1 | Noen ganger (5–29 %) | I 2 tilstander |
| AIPAHR interacting HSP90 co-chaperone | Noen ganger (5–29 %) | I 1 tilstand |
| AKT1AKT serine/threonine kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ALKALK receptor tyrosine kinase | Noen ganger (5–29 %) | I 1 tilstand |
| ARL13BARF like GTPase 13B | Noen ganger (5–29 %) | I 1 tilstand |
| ARL3ARF like GTPase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| ARMC9armadillo repeat containing 9 | Noen ganger (5–29 %) | I 1 tilstand |
| ARVCFARVCF delta catenin family member | Noen ganger (5–29 %) | I 1 tilstand |
| B9D1B9 domain containing 1 | Noen ganger (5–29 %) | I 2 tilstander |
| B9D2B9 domain containing 2 | Noen ganger (5–29 %) | I 2 tilstander |
| BAP1BRCA1 associated deubiquitinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Noen ganger (5–29 %) | I 4 tilstander |
| BRCA1BRCA1 DNA repair associated | Noen ganger (5–29 %) | I 1 tilstand |
| BRCA2BRCA2 DNA repair associated | Noen ganger (5–29 %) | I 1 tilstand |
| BRIP1BRCA1 interacting DNA helicase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CBY1chibby 1, beta catenin antagonist | Noen ganger (5–29 %) | I 1 tilstand |
| CD4CD4 molecule | Noen ganger (5–29 %) | I 1 tilstand |
| CDC40cell division cycle 40 | Noen ganger (5–29 %) | I 1 tilstand |
| CDONcell adhesion associated, oncogene regulated | Noen ganger (5–29 %) | I 4 tilstander |
| CEP104centrosomal protein 104 | Noen ganger (5–29 %) | I 1 tilstand |
| CEP120centrosomal protein 120 | Noen ganger (5–29 %) | I 2 tilstander |
| CEP290centrosomal protein 290 | Noen ganger (5–29 %) | I 3 tilstander |
| CEP41centrosomal protein 41 | Noen ganger (5–29 %) | I 2 tilstander |
| CEP83centrosomal protein 83 | Noen ganger (5–29 %) | I 1 tilstand |
| CLCN3Cl-/H+ antiporter 3 | Noen ganger (5–29 %) | I 1 tilstand |
| COG6component of oligomeric golgi complex 6 | Noen ganger (5–29 %) | I 1 tilstand |
| COMTcatechol-O-methyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| COX7Bcytochrome c oxidase subunit 7B | Noen ganger (5–29 %) | I 2 tilstander |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CPLX1complexin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CPT2carnitine palmitoyltransferase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CRIPTOcripto, EGF-CFC family member | Noen ganger (5–29 %) | I 4 tilstander |
| CSPP1centrosome and spindle pole associated protein 1 | Noen ganger (5–29 %) | I 2 tilstander |
| CTBP1C-terminal binding protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CTNNB1catenin beta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DCCDCC netrin 1 receptor | Noen ganger (5–29 %) | I 1 tilstand |
| DHCR2424-dehydrocholesterol reductase | Noen ganger (5–29 %) | I 2 tilstander |
| DISP1dispatched RND transporter family member 1 | Noen ganger (5–29 %) | I 4 tilstander |
| DLL1delta like canonical Notch ligand 1 | Noen ganger (5–29 %) | I 5 tilstander |
| FAM20CFAM20C golgi associated secretory pathway kinase | 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 2 tilstander |
| FANCEFA complementation group E | Noen ganger (5–29 %) | I 1 tilstand |
| FANCFFA complementation group F | Noen ganger (5–29 %) | I 1 tilstand |
| FANCGFA complementation group G | Noen ganger (5–29 %) | I 1 tilstand |
| FANCIFA complementation group I | Noen ganger (5–29 %) | I 1 tilstand |
| FANCMFA complementation group M | Noen ganger (5–29 %) | I 1 tilstand |
| FBXO22F-box protein 22 | Noen ganger (5–29 %) | I 1 tilstand |
| FGF8fibroblast growth factor 8 | Noen ganger (5–29 %) | I 4 tilstander |
| FGFR1fibroblast growth factor receptor 1 | Noen ganger (5–29 %) | I 4 tilstander |
| FGFRL1fibroblast growth factor receptor like 1 | Noen ganger (5–29 %) | I 1 tilstand |
| FIG4FIG4 phosphoinositide 5-phosphatase | Noen ganger (5–29 %) | I 1 tilstand |
| FOXH1forkhead box H1 | Noen ganger (5–29 %) | I 4 tilstander |
| GALCgalactosylceramidase | Noen ganger (5–29 %) | I 2 tilstander |
| GAS1growth arrest specific 1 | Noen ganger (5–29 %) | I 4 tilstander |
| GBA1glucosylceramidase beta 1 | Noen ganger (5–29 %) | I 3 tilstander |
| GCDHglutaryl-CoA dehydrogenase | Noen ganger (5–29 %) | I 1 tilstand |
| GFAPglial fibrillary acidic protein | Noen ganger (5–29 %) | I 2 tilstander |
| GLI2GLI family zinc finger 2 | Noen ganger (5–29 %) | I 5 tilstander |
| GLI3GLI family zinc finger 3 | Noen ganger (5–29 %) | I 2 tilstander |
| GNAQG protein subunit alpha q | Noen ganger (5–29 %) | I 1 tilstand |
| GP1BBglycoprotein Ib platelet subunit beta | Noen ganger (5–29 %) | I 1 tilstand |
| GPR101G protein-coupled receptor 101 | Noen ganger (5–29 %) | I 1 tilstand |
| HCCSholocytochrome c synthase | Noen ganger (5–29 %) | I 2 tilstander |
| HIRAhistone cell cycle regulator | Noen ganger (5–29 %) | I 1 tilstand |
| HNRNPUheterogeneous nuclear ribonucleoprotein U | Noen ganger (5–29 %) | I 1 tilstand |
| HSPG2heparan sulfate proteoglycan 2 | Noen ganger (5–29 %) | I 1 tilstand |
| IFT172intraflagellar transport 172 | Noen ganger (5–29 %) | I 1 tilstand |
| IFT56intraflagellar transport 56 | Noen ganger (5–29 %) | I 1 tilstand |
| IFT74intraflagellar transport 74 | Noen ganger (5–29 %) | I 1 tilstand |
| INPP5Einositol polyphosphate-5-phosphatase E | Noen ganger (5–29 %) | I 3 tilstander |
| IRF4interferon regulatory factor 4 | Noen ganger (5–29 %) | I 1 tilstand |
| JMJD1Cjumonji domain containing 1C | Noen ganger (5–29 %) | I 1 tilstand |
| KATNIPkatanin interacting protein | Noen ganger (5–29 %) | I 1 tilstand |
| KDM2Blysine demethylase 2B | Noen ganger (5–29 %) | I 1 tilstand |
| KIAA0586KIAA0586 | Noen ganger (5–29 %) | I 2 tilstander |
| KIAA0753KIAA0753 | Noen ganger (5–29 %) | I 1 tilstand |
| KIF26Akinesin family member 26A | Noen ganger (5–29 %) | I 1 tilstand |
| KRASKRas proto-oncogene, GTPase | Noen ganger (5–29 %) | I 2 tilstander |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| LMBR1limb development membrane protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MAD2L2mitotic arrest deficient 2 like 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MAP2K1mitogen-activated protein kinase kinase 1 | Noen ganger (5–29 %) | I 2 tilstander |
| MAP2K2mitogen-activated protein kinase kinase 2 | Noen ganger (5–29 %) | I 2 tilstander |
| MED12mediator complex subunit 12 | Noen ganger (5–29 %) | I 2 tilstander |
| MKS1MKS transition zone complex subunit 1 | Noen ganger (5–29 %) | I 4 tilstander |
| MNX1motor neuron and pancreas homeobox 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MTRR5-methyltetrahydrofolate-homocysteine methyltransferase reductase | Noen ganger (5–29 %) | I 1 tilstand |
| MYT1Lmyelin transcription factor 1 like | Noen ganger (5–29 %) | I 1 tilstand |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Noen ganger (5–29 %) | I 2 tilstander |
| NEK1NIMA related kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NEU1neuraminidase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NF2NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | Noen ganger (5–29 %) | I 2 tilstander |
| NODALnodal growth differentiation factor | Noen ganger (5–29 %) | I 4 tilstander |
| NOTCH2notch receptor 2 | Noen ganger (5–29 %) | I 2 tilstander |
| NOTCH3notch receptor 3 | Noen ganger (5–29 %) | I 1 tilstand |
| NPHP1nephrocystin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NRASNRAS proto-oncogene, GTPase | Noen ganger (5–29 %) | I 2 tilstander |
| NRCAMneuronal cell adhesion molecule | Noen ganger (5–29 %) | I 1 tilstand |
| NSD2nuclear receptor binding SET domain protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| OFD1OFD1 centriole and centriolar satellite protein | Noen ganger (5–29 %) | I 3 tilstander |
| PAK3p21 (RAC1) activated kinase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| PALB2partner and localizer of BRCA2 | Noen ganger (5–29 %) | I 1 tilstand |
| PDE6Dphosphodiesterase 6D | Noen ganger (5–29 %) | I 1 tilstand |
| PDGFBplatelet derived growth factor subunit B | Noen ganger (5–29 %) | I 1 tilstand |
| PIBF1progesterone immunomodulatory binding factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PORcytochrome p450 oxidoreductase | Noen ganger (5–29 %) | I 2 tilstander |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Noen ganger (5–29 %) | I 1 tilstand |
| PRKAG2protein kinase AMP-activated non-catalytic subunit gamma 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PSAPprosaposin | Noen ganger (5–29 %) | I 1 tilstand |
| PTCH2patched 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PTDSS1phosphatidylserine synthase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| RAC3Rac family small GTPase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| RAD51CRAD51 paralog C | Noen ganger (5–29 %) | I 1 tilstand |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Noen ganger (5–29 %) | I 1 tilstand |
| RECQL4RecQ like helicase 4 | Noen ganger (5–29 %) | I 1 tilstand |
| RFWD3ring finger and WD repeat domain 3 | Noen ganger (5–29 %) | I 1 tilstand |
| RNF125ring finger protein 125 | Noen ganger (5–29 %) | I 1 tilstand |
| RNU4ATACRNA, U4atac small nuclear | Noen ganger (5–29 %) | I 1 tilstand |
| ROBO1roundabout guidance receptor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ROGDIrogdi atypical leucine zipper | Noen ganger (5–29 %) | I 1 tilstand |
| RPGRIP1RPGR interacting protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| RPGRIP1LRPGRIP1 like | Noen ganger (5–29 %) | I 3 tilstander |
| RREB1ras responsive element binding protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SALL1spalt like transcription factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SAMD9sterile alpha motif domain containing 9 | Noen ganger (5–29 %) | I 1 tilstand |
| SEC24CSEC24 homolog C, COPII component | Noen ganger (5–29 %) | I 1 tilstand |
| SHHsonic hedgehog signaling molecule | Noen ganger (5–29 %) | I 4 tilstander |
| SIX3SIX homeobox 3 | Noen ganger (5–29 %) | I 4 tilstander |
| SLC13A5solute carrier family 13 member 5 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC29A3solute carrier family 29 member 3 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC32A1solute carrier family 32 member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SLX4SLX4 structure-specific endonuclease subunit | Noen ganger (5–29 %) | I 1 tilstand |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Noen ganger (5–29 %) | I 1 tilstand |
| SMC1Astructural maintenance of chromosomes 1A | Noen ganger (5–29 %) | I 1 tilstand |
| SMOsmoothened, frizzled class receptor | Noen ganger (5–29 %) | I 2 tilstander |
| SMOC1SPARC related modular calcium binding 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SOX2SRY-box transcription factor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SOX5SRY-box transcription factor 5 | Noen ganger (5–29 %) | I 1 tilstand |
| STAG2STAG2 cohesin complex component | Noen ganger (5–29 %) | I 2 tilstander |
| STILSTIL centriolar assembly protein | Noen ganger (5–29 %) | I 4 tilstander |
| TAF2TATA-box binding protein associated factor 2 | Noen ganger (5–29 %) | I 2 tilstander |
| TAOK1TAO kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TBX1T-box transcription factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TCOF1treacle ribosome biogenesis factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TCTN1tectonic family member 1 | Noen ganger (5–29 %) | I 2 tilstander |
| TCTN2tectonic family member 2 | Noen ganger (5–29 %) | I 2 tilstander |
| TCTN3tectonic family member 3 | Noen ganger (5–29 %) | I 2 tilstander |
| TERTtelomerase reverse transcriptase | Noen ganger (5–29 %) | I 1 tilstand |
| TGFBR1transforming growth factor beta receptor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TGFBR2transforming growth factor beta receptor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TGIF1TGFB induced factor homeobox 1 | Noen ganger (5–29 %) | I 4 tilstander |
| TMEM107transmembrane protein 107 | Noen ganger (5–29 %) | I 1 tilstand |
| TMEM138transmembrane protein 138 | Noen ganger (5–29 %) | I 1 tilstand |
| TMEM216transmembrane protein 216 | Noen ganger (5–29 %) | I 3 tilstander |
| TMEM218transmembrane protein 218 | Noen ganger (5–29 %) | I 1 tilstand |
| TMEM222transmembrane protein 222 | Noen ganger (5–29 %) | I 1 tilstand |
| TMEM231transmembrane protein 231 | Noen ganger (5–29 %) | I 2 tilstander |
| TMEM67transmembrane protein 67 | Noen ganger (5–29 %) | I 4 tilstander |
| TNFRSF11ATNF receptor superfamily member 11a | Noen ganger (5–29 %) | I 1 tilstand |
| TOE1target of EGR1, exonuclease | Noen ganger (5–29 %) | I 1 tilstand |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TRAF7TNF receptor associated factor 7 | Noen ganger (5–29 %) | I 1 tilstand |
| TREM2triggering receptor expressed on myeloid cells 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TRMT1tRNA methyltransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Noen ganger (5–29 %) | I 1 tilstand |
| TSC1TSC complex subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TSC2TSC complex subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TXNDC15thioredoxin domain containing 15 | Noen ganger (5–29 %) | I 1 tilstand |
| TYROBPtransmembrane immune signaling adaptor TYROBP | Noen ganger (5–29 %) | I 1 tilstand |
| UBE2Tubiquitin conjugating enzyme E2 T | Noen ganger (5–29 %) | I 1 tilstand |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Noen ganger (5–29 %) | I 1 tilstand |
| UNC45Aunc-45 myosin chaperone A | Noen ganger (5–29 %) | I 1 tilstand |
| USP7ubiquitin specific peptidase 7 | Noen ganger (5–29 %) | I 1 tilstand |
| VAC14VAC14 component of PIKFYVE complex | Noen ganger (5–29 %) | I 1 tilstand |
| VANGL1VANGL planar cell polarity protein 1 | Noen ganger (5–29 %) | I 2 tilstander |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Noen ganger (5–29 %) | I 1 tilstand |
| XRCC2X-ray repair cross complementing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ZEB2zinc finger E-box binding homeobox 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ZIC2Zic family zinc finger 2 | Noen ganger (5–29 %) | I 5 tilstander |
| ZIC3Zic family zinc finger 3 | Noen ganger (5–29 %) | I 2 tilstander |
| ZNF423zinc finger protein 423 | Noen ganger (5–29 %) | I 1 tilstand |
| ACBD6acyl-CoA binding domain containing 6 | 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 |
| 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 |
| MFN2mitofusin 2 | Sjelden (1–4%) | I 1 tilstand |
| MMACHCmetabolism of cobalamin associated C | Sjelden (1–4%) | I 2 tilstander |
| MT-CYBmitochondrially encoded cytochrome b | Sjelden (1–4%) | I 1 tilstand |
| MTHFRmethylenetetrahydrofolate reductase | Sjelden (1–4%) | I 1 tilstand |
| NEK10NIMA related kinase 10 | Sjelden (1–4%) | I 1 tilstand |
| NF1neurofibromin 1 | Sjelden (1–4%) | I 2 tilstander |
| 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 |
| SPTBN1spectrin beta, non-erythrocytic 1 | 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 |
| ZMYND10zinc finger MYND-type containing 10 | Sjelden (1–4%) | I 1 tilstand |
| AMER1APC membrane recruitment protein 1 | Ikke registrert | I 1 tilstand |
| ARSBarylsulfatase B | Ikke registrert | I 1 tilstand |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Ikke registrert | I 1 tilstand |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Ikke registrert | I 1 tilstand |
| CENPFcentromere protein F | Ikke registrert | I 1 tilstand |
| CHST3carbohydrate sulfotransferase 3 | Ikke registrert | I 1 tilstand |
| CRB2crumbs cell polarity complex component 2 | Ikke registrert | I 1 tilstand |
| DHCR77-dehydrocholesterol reductase | Ikke registrert | I 1 tilstand |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Ikke registrert | I 1 tilstand |
| FRAS1Fraser extracellular matrix complex subunit 1 | Ikke registrert | I 1 tilstand |
| FUZfuzzy planar cell polarity protein | Ikke registrert | I 1 tilstand |
| GPC3glypican 3 | Ikke registrert | I 1 tilstand |
| GUSBglucuronidase beta | Ikke registrert | I 1 tilstand |
| HRASHRas proto-oncogene, GTPase | Ikke registrert | I 1 tilstand |
| IDSiduronate 2-sulfatase | Ikke registrert | I 1 tilstand |
| MTM1myotubularin 1 | Ikke registrert | I 1 tilstand |
| MUSKmuscle associated receptor tyrosine kinase | Ikke registrert | I 1 tilstand |
| P4HBprolyl 4-hydroxylase subunit beta | Ikke registrert | I 1 tilstand |
| PEX19peroxisomal biogenesis factor 19 | Ikke registrert | I 1 tilstand |
| PORCNporcupine O-acyltransferase | Ikke registrert | I 1 tilstand |
| PRDX1peroxiredoxin 1 | Ikke registrert | I 1 tilstand |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Ikke registrert | I 1 tilstand |
| RNASEH2Aribonuclease H2 subunit A | Ikke registrert | I 1 tilstand |
| SF3B2splicing factor 3b subunit 2 | Ikke registrert | I 1 tilstand |
| SF3B4splicing factor 3b subunit 4 | Ikke registrert | I 1 tilstand |
| SLC17A5solute carrier family 17 member 5 | Ikke registrert | I 1 tilstand |
| SLC25A24solute carrier family 25 member 24 | Ikke registrert | I 1 tilstand |
| SOX9SRY-box transcription factor 9 | Ikke registrert | I 1 tilstand |
| TBX15T-box transcription factor 15 | Ikke registrert | I 1 tilstand |
| TBXTT-box transcription factor T | Ikke registrert | I 1 tilstand |
| VANGL2VANGL planar cell polarity protein 2 | 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.
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