Cecha
Too much cerebrospinal fluid in the brain
Nazwa kliniczna: 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.
Podsumowanie
- Znana także jako
- Hydrocephaly, Nonsyndromal hydrocephalus
- Układ organizmu
- Abnormality of the nervous system
Genom referencyjnyGRCh38hg38
Pozycje na stronach genów i wariantów zależą od tego wyboru, w tej przeglądarce.
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Zamawiam Genome Test409 genów powiązanych z Too much cerebrospinal fluid in the brain
Zmiany w tych genach powodują rzadkie choroby, w których występuje Too much cerebrospinal fluid in the brain. Większość osób z tą cechą nie ma żadnej z tych chorób, a gen z tej listy nic nie mówi o czyimkolwiek własnym genomie.
| Gen | Jak często występuje | Choroby |
|---|---|---|
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Zawsze | W 1 chorobie |
| B4GALT1beta-1,4-galactosyltransferase 1 | Zawsze | W 2 chorobach |
| BLTP1bridge-like lipid transfer protein family member 1 | Zawsze | W 1 chorobie |
| CC2D2Acoiled-coil and C2 domain containing 2A | Zawsze | W 5 chorobach |
| CCDC88Ccoiled-coil and HOOK domain protein 88C | Zawsze | W 1 chorobie |
| CILK1ciliogenesis associated kinase 1 | Zawsze | W 2 chorobach |
| CRPPACDP-L-ribitol pyrophosphorylase A | Zawsze | W 3 chorobach |
| CST3cystatin C | Zawsze | W 1 chorobie |
| EML1EMAP like 1 | Zawsze | W 1 chorobie |
| FBN1fibrillin 1 | Zawsze | W 1 chorobie |
| FBXL4F-box and leucine rich repeat protein 4 | Zawsze | W 1 chorobie |
| FGFR2fibroblast growth factor receptor 2 | Zawsze | W 9 chorobach |
| FGFR3fibroblast growth factor receptor 3 | Zawsze | W 9 chorobach |
| FKRPfukutin related protein | Zawsze | W 5 chorobach |
| FLVCR1FLVCR choline and heme transporter 1 | Zawsze | W 1 chorobie |
| GTPBP2GTP binding protein 2 | Zawsze | W 1 chorobie |
| HES7hes family bHLH transcription factor 7 | Zawsze | W 1 chorobie |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Zawsze | W 1 chorobie |
| L1CAML1 cell adhesion molecule | Zawsze | W 4 chorobach |
| LAMB1laminin subunit beta 1 | Zawsze | W 2 chorobach |
| MPDZmultiple PDZ domain crumbs cell polarity complex component | Zawsze | W 1 chorobie |
| NADK2NAD kinase 2, mitochondrial | Zawsze | W 1 chorobie |
| PIK3R2phosphoinositide-3-kinase regulatory subunit 2 | Zawsze | W 2 chorobach |
| PLGplasminogen | Zawsze | W 2 chorobach |
| POLR1ARNA polymerase I subunit A | Zawsze | W 1 chorobie |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Zawsze | W 4 chorobach |
| POMKprotein O-mannose kinase | Zawsze | W 3 chorobach |
| POMT2protein O-mannosyltransferase 2 | Zawsze | W 5 chorobach |
| RAD51RAD51 recombinase | Zawsze | W 2 chorobach |
| SPINK5serine peptidase inhibitor Kazal type 5 | Zawsze | W 1 chorobie |
| SPOUT1SPOUT domain containing methyltransferase 1 | Zawsze | W 1 chorobie |
| YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | Zawsze | W 1 chorobie |
| ZFPM2zinc finger protein, FOG family member 2 | Zawsze | W 1 chorobie |
| ZPR1ZPR1 zinc finger | Zawsze | W 1 chorobie |
| ZRSR2zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 | Zawsze | W 1 chorobie |
| AKT3AKT serine/threonine kinase 3 | Bardzo często (80–99%) | W 2 chorobach |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Bardzo często (80–99%) | W 2 chorobach |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Bardzo często (80–99%) | W 3 chorobach |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Bardzo często (80–99%) | W 2 chorobach |
| CCND2cyclin D2 | Bardzo często (80–99%) | W 2 chorobach |
Pokaż jeszcze 369 genów
| Gen | Jak często występuje | Choroby |
|---|---|---|
| CLCN7Cl-/H+ antiporter 7 | Bardzo często (80–99%) | W 2 chorobach |
| COL4A1collagen type IV alpha 1 chain | Bardzo często (80–99%) | W 2 chorobach |
| DAG1dystroglycan 1 | Bardzo często (80–99%) | W 2 chorobach |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Bardzo często (80–99%) | W 1 chorobie |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Bardzo często (80–99%) | W 1 chorobie |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Bardzo często (80–99%) | W 2 chorobach |
| ERCC5ERCC excision repair 5, endonuclease | Bardzo często (80–99%) | W 1 chorobie |
| ESAMendothelial cell adhesion molecule | Bardzo często (80–99%) | W 1 chorobie |
| FANCBFA complementation group B | Bardzo często (80–99%) | W 3 chorobach |
| FKTNfukutin | Bardzo często (80–99%) | W 5 chorobach |
| GMPPBGDP-mannose pyrophosphorylase B | Bardzo często (80–99%) | W 2 chorobach |
| HDAC6histone deacetylase 6 | Bardzo często (80–99%) | W 2 chorobach |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Bardzo często (80–99%) | W 2 chorobach |
| KIF7kinesin family member 7 | Bardzo często (80–99%) | W 2 chorobach |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Bardzo często (80–99%) | W 4 chorobach |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Bardzo często (80–99%) | W 1 chorobie |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Bardzo często (80–99%) | W 2 chorobach |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Bardzo często (80–99%) | W 2 chorobach |
| POMT1protein O-mannosyltransferase 1 | Bardzo często (80–99%) | W 5 chorobach |
| PTENphosphatase and tensin homolog | Bardzo często (80–99%) | W 2 chorobach |
| RSPO2R-spondin 2 | Bardzo często (80–99%) | W 1 chorobie |
| RXYLT1ribitol xylosyltransferase 1 | Bardzo często (80–99%) | W 1 chorobie |
| SEC24DSEC24 homolog D, COPII component | Bardzo często (80–99%) | W 1 chorobie |
| SNX10sorting nexin 10 | Bardzo często (80–99%) | W 1 chorobie |
| TBX4T-box transcription factor 4 | Bardzo często (80–99%) | W 1 chorobie |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Bardzo często (80–99%) | W 2 chorobach |
| TNFSF11TNF superfamily member 11 | Bardzo często (80–99%) | W 2 chorobach |
| TP53tumor protein p53 | Bardzo często (80–99%) | W 2 chorobach |
| WDR81WD repeat domain 81 | Bardzo często (80–99%) | W 1 chorobie |
| WNT3Wnt family member 3 | Bardzo często (80–99%) | W 2 chorobach |
| ZBTB20zinc finger and BTB domain containing 20 | Bardzo często (80–99%) | W 1 chorobie |
| ZIC1Zic family zinc finger 1 | Bardzo często (80–99%) | W 1 chorobie |
| ZIC4Zic family zinc finger 4 | Bardzo często (80–99%) | W 1 chorobie |
| ALDH7A1aldehyde dehydrogenase 7 family member A1 | Często (30–79%) | W 1 chorobie |
| ARHGAP31Rho GTPase activating protein 31 | Często (30–79%) | W 1 chorobie |
| B3GALT6beta-1,3-galactosyltransferase 6 | Często (30–79%) | W 1 chorobie |
| B3GLCTbeta 3-glucosyltransferase | Często (30–79%) | W 2 chorobach |
| CASP2caspase 2 | Często (30–79%) | W 1 chorobie |
| CCDC22CCC complex scaffolding subunit CCDC22 | Często (30–79%) | W 1 chorobie |
| COL18A1collagen type XVIII alpha 1 chain | Często (30–79%) | W 1 chorobie |
| CSF1Rcolony stimulating factor 1 receptor | Często (30–79%) | W 1 chorobie |
| CYP26C1cytochrome P450 family 26 subfamily C member 1 | Często (30–79%) | W 1 chorobie |
| DENND5ADENN domain containing 5A | Często (30–79%) | W 1 chorobie |
| DLL4delta like canonical Notch ligand 4 | Często (30–79%) | W 1 chorobie |
| DOCK6dedicator of cytokinesis 6 | Często (30–79%) | W 2 chorobach |
| DPH1diphthamide biosynthesis 1 | Często (30–79%) | W 1 chorobie |
| DPH2diphthamide biosynthesis 2 | Często (30–79%) | W 1 chorobie |
| DPYSL5dihydropyrimidinase like 5 | Często (30–79%) | W 1 chorobie |
| EBPEBP cholestenol delta-isomerase | Często (30–79%) | W 2 chorobach |
| EOGTEGF domain specific O-linked N-acetylglucosamine transferase | Często (30–79%) | W 1 chorobie |
| FAAP100FA core complex associated protein 100 | Często (30–79%) | W 2 chorobach |
| FAM111AFAM111 trypsin like peptidase A | Często (30–79%) | W 1 chorobie |
| FANCLFA complementation group L | Często (30–79%) | W 2 chorobach |
| FLNAfilamin A | Często (30–79%) | W 2 chorobach |
| FLVCR2FLVCR choline and putative heme transporter 2 | Często (30–79%) | W 1 chorobie |
| FTOFTO alpha-ketoglutarate dependent dioxygenase | Często (30–79%) | W 1 chorobie |
| GPSM2G protein signaling modulator 2 | Często (30–79%) | W 1 chorobie |
| GRIP1glutamate receptor interacting protein 1 | Często (30–79%) | W 1 chorobie |
| H4C9H4 clustered histone 9 | Często (30–79%) | W 1 chorobie |
| HBA1hemoglobin subunit alpha 1 | Często (30–79%) | W 1 chorobie |
| HBA2hemoglobin subunit alpha 2 | Często (30–79%) | W 1 chorobie |
| IDUAalpha-L-iduronidase | Często (30–79%) | W 2 chorobach |
| IFT43intraflagellar transport 43 | Często (30–79%) | W 1 chorobie |
| KDM6Alysine demethylase 6A | Często (30–79%) | W 2 chorobach |
| KDM6Blysine demethylase 6B | Często (30–79%) | W 1 chorobie |
| KMT2Dlysine methyltransferase 2D | Często (30–79%) | W 2 chorobach |
| MAFMAF bZIP transcription factor | Często (30–79%) | W 1 chorobie |
| NFIXnuclear factor I X | Często (30–79%) | W 1 chorobie |
| NKX3-2NK3 homeobox 2 | Często (30–79%) | W 1 chorobie |
| NOTCH1notch receptor 1 | Często (30–79%) | W 1 chorobie |
| OGDHoxoglutarate dehydrogenase | Często (30–79%) | W 1 chorobie |
| PAK2p21 (RAC1) activated kinase 2 | Często (30–79%) | W 1 chorobie |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Często (30–79%) | W 1 chorobie |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Często (30–79%) | W 1 chorobie |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Często (30–79%) | W 3 chorobach |
| PLCH1phospholipase C eta 1 | Często (30–79%) | W 2 chorobach |
| POLR3ARNA polymerase III subunit A | Często (30–79%) | W 2 chorobach |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Często (30–79%) | W 1 chorobie |
| PPP2R1Aprotein phosphatase 2 scaffold subunit Aalpha | Często (30–79%) | W 2 chorobach |
| PTCH1patched 1 | Często (30–79%) | W 8 chorobach |
| PYCR1pyrroline-5-carboxylate reductase 1 | Często (30–79%) | W 1 chorobie |
| RBPJrecombination signal binding protein for immunoglobulin kappa J region | Często (30–79%) | W 1 chorobie |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Często (30–79%) | W 1 chorobie |
| SIK3SIK family kinase 3 | Często (30–79%) | W 1 chorobie |
| SKISKI proto-oncogene | Często (30–79%) | W 1 chorobie |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Często (30–79%) | W 2 chorobach |
| SUFUSUFU negative regulator of hedgehog signaling | Często (30–79%) | W 4 chorobach |
| SUMF1sulfatase modifying factor 1 | Często (30–79%) | W 2 chorobach |
| TBCKTBC1 domain containing kinase | Często (30–79%) | W 1 chorobie |
| TMEM237transmembrane protein 237 | Często (30–79%) | W 5 chorobach |
| TMTC3transmembrane O-mannosyltransferase targeting cadherins 3 | Często (30–79%) | W 1 chorobie |
| VPS35LVPS35 endosomal protein sorting factor like | Często (30–79%) | W 1 chorobie |
| VSX1visual system homeobox 1 | Często (30–79%) | W 1 chorobie |
| WASHC5WASH complex subunit 5 | Często (30–79%) | W 2 chorobach |
| ZNHIT3zinc finger HIT-type containing 3 | Często (30–79%) | W 1 chorobie |
| AHI1Abelson helper integration site 1 | Czasami (5–29%) | W 2 chorobach |
| AIPAHR interacting HSP90 co-chaperone | Czasami (5–29%) | W 1 chorobie |
| AKT1AKT serine/threonine kinase 1 | Czasami (5–29%) | W 1 chorobie |
| ALKALK receptor tyrosine kinase | Czasami (5–29%) | W 1 chorobie |
| ARL13BARF like GTPase 13B | Czasami (5–29%) | W 1 chorobie |
| ARL3ARF like GTPase 3 | Czasami (5–29%) | W 1 chorobie |
| ARMC9armadillo repeat containing 9 | Czasami (5–29%) | W 1 chorobie |
| ARVCFARVCF delta catenin family member | Czasami (5–29%) | W 1 chorobie |
| B9D1B9 domain containing 1 | Czasami (5–29%) | W 2 chorobach |
| B9D2B9 domain containing 2 | Czasami (5–29%) | W 2 chorobach |
| BAP1BRCA1 associated deubiquitinase 1 | Czasami (5–29%) | W 1 chorobie |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Czasami (5–29%) | W 4 chorobach |
| BRCA1BRCA1 DNA repair associated | Czasami (5–29%) | W 1 chorobie |
| BRCA2BRCA2 DNA repair associated | Czasami (5–29%) | W 1 chorobie |
| BRIP1BRCA1 interacting DNA helicase 1 | Czasami (5–29%) | W 1 chorobie |
| CBY1chibby 1, beta catenin antagonist | Czasami (5–29%) | W 1 chorobie |
| CD4CD4 molecule | Czasami (5–29%) | W 1 chorobie |
| CDC40cell division cycle 40 | Czasami (5–29%) | W 1 chorobie |
| CDONcell adhesion associated, oncogene regulated | Czasami (5–29%) | W 4 chorobach |
| CEP104centrosomal protein 104 | Czasami (5–29%) | W 1 chorobie |
| CEP120centrosomal protein 120 | Czasami (5–29%) | W 2 chorobach |
| CEP290centrosomal protein 290 | Czasami (5–29%) | W 3 chorobach |
| CEP41centrosomal protein 41 | Czasami (5–29%) | W 2 chorobach |
| CEP83centrosomal protein 83 | Czasami (5–29%) | W 1 chorobie |
| CLCN3Cl-/H+ antiporter 3 | Czasami (5–29%) | W 1 chorobie |
| COG6component of oligomeric golgi complex 6 | Czasami (5–29%) | W 1 chorobie |
| COMTcatechol-O-methyltransferase | Czasami (5–29%) | W 1 chorobie |
| COX7Bcytochrome c oxidase subunit 7B | Czasami (5–29%) | W 2 chorobach |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Czasami (5–29%) | W 1 chorobie |
| CPLX1complexin 1 | Czasami (5–29%) | W 1 chorobie |
| CPT2carnitine palmitoyltransferase 2 | Czasami (5–29%) | W 1 chorobie |
| CRIPTOcripto, EGF-CFC family member | Czasami (5–29%) | W 4 chorobach |
| CSPP1centrosome and spindle pole associated protein 1 | Czasami (5–29%) | W 2 chorobach |
| CTBP1C-terminal binding protein 1 | Czasami (5–29%) | W 1 chorobie |
| CTNNB1catenin beta 1 | Czasami (5–29%) | W 1 chorobie |
| DCCDCC netrin 1 receptor | Czasami (5–29%) | W 1 chorobie |
| DHCR2424-dehydrocholesterol reductase | Czasami (5–29%) | W 2 chorobach |
| DISP1dispatched RND transporter family member 1 | Czasami (5–29%) | W 4 chorobach |
| DLL1delta like canonical Notch ligand 1 | Czasami (5–29%) | W 5 chorobach |
| FAM20CFAM20C golgi associated secretory pathway kinase | Czasami (5–29%) | W 1 chorobie |
| FANCAFA complementation group A | Czasami (5–29%) | W 1 chorobie |
| FANCCFA complementation group C | Czasami (5–29%) | W 1 chorobie |
| FANCD2FA complementation group D2 | Czasami (5–29%) | W 2 chorobach |
| FANCEFA complementation group E | Czasami (5–29%) | W 1 chorobie |
| FANCFFA complementation group F | Czasami (5–29%) | W 1 chorobie |
| FANCGFA complementation group G | Czasami (5–29%) | W 1 chorobie |
| FANCIFA complementation group I | Czasami (5–29%) | W 1 chorobie |
| FANCMFA complementation group M | Czasami (5–29%) | W 1 chorobie |
| FBXO22F-box protein 22 | Czasami (5–29%) | W 1 chorobie |
| FGF8fibroblast growth factor 8 | Czasami (5–29%) | W 4 chorobach |
| FGFR1fibroblast growth factor receptor 1 | Czasami (5–29%) | W 4 chorobach |
| FGFRL1fibroblast growth factor receptor like 1 | Czasami (5–29%) | W 1 chorobie |
| FIG4FIG4 phosphoinositide 5-phosphatase | Czasami (5–29%) | W 1 chorobie |
| FOXH1forkhead box H1 | Czasami (5–29%) | W 4 chorobach |
| GALCgalactosylceramidase | Czasami (5–29%) | W 2 chorobach |
| GAS1growth arrest specific 1 | Czasami (5–29%) | W 4 chorobach |
| GBA1glucosylceramidase beta 1 | Czasami (5–29%) | W 3 chorobach |
| GCDHglutaryl-CoA dehydrogenase | Czasami (5–29%) | W 1 chorobie |
| GFAPglial fibrillary acidic protein | Czasami (5–29%) | W 2 chorobach |
| GLI2GLI family zinc finger 2 | Czasami (5–29%) | W 5 chorobach |
| GLI3GLI family zinc finger 3 | Czasami (5–29%) | W 2 chorobach |
| GNAQG protein subunit alpha q | Czasami (5–29%) | W 1 chorobie |
| GP1BBglycoprotein Ib platelet subunit beta | Czasami (5–29%) | W 1 chorobie |
| GPR101G protein-coupled receptor 101 | Czasami (5–29%) | W 1 chorobie |
| HCCSholocytochrome c synthase | Czasami (5–29%) | W 2 chorobach |
| HIRAhistone cell cycle regulator | Czasami (5–29%) | W 1 chorobie |
| HNRNPUheterogeneous nuclear ribonucleoprotein U | Czasami (5–29%) | W 1 chorobie |
| HSPG2heparan sulfate proteoglycan 2 | Czasami (5–29%) | W 1 chorobie |
| IFT172intraflagellar transport 172 | Czasami (5–29%) | W 1 chorobie |
| IFT56intraflagellar transport 56 | Czasami (5–29%) | W 1 chorobie |
| IFT74intraflagellar transport 74 | Czasami (5–29%) | W 1 chorobie |
| INPP5Einositol polyphosphate-5-phosphatase E | Czasami (5–29%) | W 3 chorobach |
| IRF4interferon regulatory factor 4 | Czasami (5–29%) | W 1 chorobie |
| JMJD1Cjumonji domain containing 1C | Czasami (5–29%) | W 1 chorobie |
| KATNIPkatanin interacting protein | Czasami (5–29%) | W 1 chorobie |
| KDM2Blysine demethylase 2B | Czasami (5–29%) | W 1 chorobie |
| KIAA0586KIAA0586 | Czasami (5–29%) | W 2 chorobach |
| KIAA0753KIAA0753 | Czasami (5–29%) | W 1 chorobie |
| KIF26Akinesin family member 26A | Czasami (5–29%) | W 1 chorobie |
| KRASKRas proto-oncogene, GTPase | Czasami (5–29%) | W 2 chorobach |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Czasami (5–29%) | W 1 chorobie |
| LMBR1limb development membrane protein 1 | Czasami (5–29%) | W 1 chorobie |
| MAD2L2mitotic arrest deficient 2 like 2 | Czasami (5–29%) | W 1 chorobie |
| MAP2K1mitogen-activated protein kinase kinase 1 | Czasami (5–29%) | W 2 chorobach |
| MAP2K2mitogen-activated protein kinase kinase 2 | Czasami (5–29%) | W 2 chorobach |
| MED12mediator complex subunit 12 | Czasami (5–29%) | W 2 chorobach |
| MKS1MKS transition zone complex subunit 1 | Czasami (5–29%) | W 4 chorobach |
| MNX1motor neuron and pancreas homeobox 1 | Czasami (5–29%) | W 1 chorobie |
| MTRR5-methyltetrahydrofolate-homocysteine methyltransferase reductase | Czasami (5–29%) | W 1 chorobie |
| MYT1Lmyelin transcription factor 1 like | Czasami (5–29%) | W 1 chorobie |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Czasami (5–29%) | W 2 chorobach |
| NEK1NIMA related kinase 1 | Czasami (5–29%) | W 1 chorobie |
| NEU1neuraminidase 1 | Czasami (5–29%) | W 1 chorobie |
| NF2NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | Czasami (5–29%) | W 2 chorobach |
| NODALnodal growth differentiation factor | Czasami (5–29%) | W 4 chorobach |
| NOTCH2notch receptor 2 | Czasami (5–29%) | W 2 chorobach |
| NOTCH3notch receptor 3 | Czasami (5–29%) | W 1 chorobie |
| NPHP1nephrocystin 1 | Czasami (5–29%) | W 1 chorobie |
| NRASNRAS proto-oncogene, GTPase | Czasami (5–29%) | W 2 chorobach |
| NRCAMneuronal cell adhesion molecule | Czasami (5–29%) | W 1 chorobie |
| NSD2nuclear receptor binding SET domain protein 2 | Czasami (5–29%) | W 1 chorobie |
| OFD1OFD1 centriole and centriolar satellite protein | Czasami (5–29%) | W 3 chorobach |
| PAK3p21 (RAC1) activated kinase 3 | Czasami (5–29%) | W 1 chorobie |
| PALB2partner and localizer of BRCA2 | Czasami (5–29%) | W 1 chorobie |
| PDE6Dphosphodiesterase 6D | Czasami (5–29%) | W 1 chorobie |
| PDGFBplatelet derived growth factor subunit B | Czasami (5–29%) | W 1 chorobie |
| PIBF1progesterone immunomodulatory binding factor 1 | Czasami (5–29%) | W 1 chorobie |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Czasami (5–29%) | W 1 chorobie |
| PORcytochrome p450 oxidoreductase | Czasami (5–29%) | W 2 chorobach |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Czasami (5–29%) | W 1 chorobie |
| PRKAG2protein kinase AMP-activated non-catalytic subunit gamma 2 | Czasami (5–29%) | W 1 chorobie |
| PSAPprosaposin | Czasami (5–29%) | W 1 chorobie |
| PTCH2patched 2 | Czasami (5–29%) | W 1 chorobie |
| PTDSS1phosphatidylserine synthase 1 | Czasami (5–29%) | W 1 chorobie |
| RAC3Rac family small GTPase 3 | Czasami (5–29%) | W 1 chorobie |
| RAD51CRAD51 paralog C | Czasami (5–29%) | W 1 chorobie |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Czasami (5–29%) | W 1 chorobie |
| RECQL4RecQ like helicase 4 | Czasami (5–29%) | W 1 chorobie |
| RFWD3ring finger and WD repeat domain 3 | Czasami (5–29%) | W 1 chorobie |
| RNF125ring finger protein 125 | Czasami (5–29%) | W 1 chorobie |
| RNU4ATACRNA, U4atac small nuclear | Czasami (5–29%) | W 1 chorobie |
| ROBO1roundabout guidance receptor 1 | Czasami (5–29%) | W 1 chorobie |
| ROGDIrogdi atypical leucine zipper | Czasami (5–29%) | W 1 chorobie |
| RPGRIP1RPGR interacting protein 1 | Czasami (5–29%) | W 1 chorobie |
| RPGRIP1LRPGRIP1 like | Czasami (5–29%) | W 3 chorobach |
| RREB1ras responsive element binding protein 1 | Czasami (5–29%) | W 1 chorobie |
| SALL1spalt like transcription factor 1 | Czasami (5–29%) | W 1 chorobie |
| SAMD9sterile alpha motif domain containing 9 | Czasami (5–29%) | W 1 chorobie |
| SEC24CSEC24 homolog C, COPII component | Czasami (5–29%) | W 1 chorobie |
| SHHsonic hedgehog signaling molecule | Czasami (5–29%) | W 4 chorobach |
| SIX3SIX homeobox 3 | Czasami (5–29%) | W 4 chorobach |
| SLC13A5solute carrier family 13 member 5 | Czasami (5–29%) | W 1 chorobie |
| SLC29A3solute carrier family 29 member 3 | Czasami (5–29%) | W 1 chorobie |
| SLC32A1solute carrier family 32 member 1 | Czasami (5–29%) | W 1 chorobie |
| SLX4SLX4 structure-specific endonuclease subunit | Czasami (5–29%) | W 1 chorobie |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Czasami (5–29%) | W 1 chorobie |
| SMC1Astructural maintenance of chromosomes 1A | Czasami (5–29%) | W 1 chorobie |
| SMOsmoothened, frizzled class receptor | Czasami (5–29%) | W 2 chorobach |
| SMOC1SPARC related modular calcium binding 1 | Czasami (5–29%) | W 1 chorobie |
| SOX2SRY-box transcription factor 2 | Czasami (5–29%) | W 1 chorobie |
| SOX5SRY-box transcription factor 5 | Czasami (5–29%) | W 1 chorobie |
| STAG2STAG2 cohesin complex component | Czasami (5–29%) | W 2 chorobach |
| STILSTIL centriolar assembly protein | Czasami (5–29%) | W 4 chorobach |
| TAF2TATA-box binding protein associated factor 2 | Czasami (5–29%) | W 2 chorobach |
| TAOK1TAO kinase 1 | Czasami (5–29%) | W 1 chorobie |
| TBX1T-box transcription factor 1 | Czasami (5–29%) | W 1 chorobie |
| TCOF1treacle ribosome biogenesis factor 1 | Czasami (5–29%) | W 1 chorobie |
| TCTN1tectonic family member 1 | Czasami (5–29%) | W 2 chorobach |
| TCTN2tectonic family member 2 | Czasami (5–29%) | W 2 chorobach |
| TCTN3tectonic family member 3 | Czasami (5–29%) | W 2 chorobach |
| TERTtelomerase reverse transcriptase | Czasami (5–29%) | W 1 chorobie |
| TGFBR1transforming growth factor beta receptor 1 | Czasami (5–29%) | W 1 chorobie |
| TGFBR2transforming growth factor beta receptor 2 | Czasami (5–29%) | W 1 chorobie |
| TGIF1TGFB induced factor homeobox 1 | Czasami (5–29%) | W 4 chorobach |
| TMEM107transmembrane protein 107 | Czasami (5–29%) | W 1 chorobie |
| TMEM138transmembrane protein 138 | Czasami (5–29%) | W 1 chorobie |
| TMEM216transmembrane protein 216 | Czasami (5–29%) | W 3 chorobach |
| TMEM218transmembrane protein 218 | Czasami (5–29%) | W 1 chorobie |
| TMEM222transmembrane protein 222 | Czasami (5–29%) | W 1 chorobie |
| TMEM231transmembrane protein 231 | Czasami (5–29%) | W 2 chorobach |
| TMEM67transmembrane protein 67 | Czasami (5–29%) | W 4 chorobach |
| TNFRSF11ATNF receptor superfamily member 11a | Czasami (5–29%) | W 1 chorobie |
| TOE1target of EGR1, exonuclease | Czasami (5–29%) | W 1 chorobie |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Czasami (5–29%) | W 1 chorobie |
| TRAF7TNF receptor associated factor 7 | Czasami (5–29%) | W 1 chorobie |
| TREM2triggering receptor expressed on myeloid cells 2 | Czasami (5–29%) | W 1 chorobie |
| TRMT1tRNA methyltransferase 1 | Czasami (5–29%) | W 1 chorobie |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Czasami (5–29%) | W 1 chorobie |
| TSC1TSC complex subunit 1 | Czasami (5–29%) | W 1 chorobie |
| TSC2TSC complex subunit 2 | Czasami (5–29%) | W 1 chorobie |
| TXNDC15thioredoxin domain containing 15 | Czasami (5–29%) | W 1 chorobie |
| TYROBPtransmembrane immune signaling adaptor TYROBP | Czasami (5–29%) | W 1 chorobie |
| UBE2Tubiquitin conjugating enzyme E2 T | Czasami (5–29%) | W 1 chorobie |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Czasami (5–29%) | W 1 chorobie |
| UNC45Aunc-45 myosin chaperone A | Czasami (5–29%) | W 1 chorobie |
| USP7ubiquitin specific peptidase 7 | Czasami (5–29%) | W 1 chorobie |
| VAC14VAC14 component of PIKFYVE complex | Czasami (5–29%) | W 1 chorobie |
| VANGL1VANGL planar cell polarity protein 1 | Czasami (5–29%) | W 2 chorobach |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Czasami (5–29%) | W 1 chorobie |
| XRCC2X-ray repair cross complementing 2 | Czasami (5–29%) | W 1 chorobie |
| ZEB2zinc finger E-box binding homeobox 2 | Czasami (5–29%) | W 1 chorobie |
| ZIC2Zic family zinc finger 2 | Czasami (5–29%) | W 5 chorobach |
| ZIC3Zic family zinc finger 3 | Czasami (5–29%) | W 2 chorobach |
| ZNF423zinc finger protein 423 | Czasami (5–29%) | W 1 chorobie |
| ACBD6acyl-CoA binding domain containing 6 | Rzadko (1–4%) | W 1 chorobie |
| BRWD1bromodomain and WD repeat domain containing 1 | Rzadko (1–4%) | W 1 chorobie |
| CCDC39coiled-coil domain 39 molecular ruler complex subunit | Rzadko (1–4%) | W 1 chorobie |
| CCDC40coiled-coil domain 40 molecular ruler complex subunit | Rzadko (1–4%) | W 1 chorobie |
| CCNOcyclin O | Rzadko (1–4%) | W 1 chorobie |
| CFAP221cilia and flagella associated protein 221 | Rzadko (1–4%) | W 1 chorobie |
| CFAP298cilia and flagella associated protein 298 | Rzadko (1–4%) | W 1 chorobie |
| CFAP300cilia and flagella associated protein 300 | Rzadko (1–4%) | W 1 chorobie |
| CFAP74cilia and flagella associated protein 74 | Rzadko (1–4%) | W 1 chorobie |
| CLXNcalaxin | Rzadko (1–4%) | W 1 chorobie |
| DAW1dynein assembly factor with WD repeats 1 | Rzadko (1–4%) | W 1 chorobie |
| DNAAF1dynein axonemal assembly factor 1 | Rzadko (1–4%) | W 1 chorobie |
| DNAAF11dynein axonemal assembly factor 11 | Rzadko (1–4%) | W 1 chorobie |
| DNAAF19dynein axonemal assembly factor 19 | Rzadko (1–4%) | W 1 chorobie |
| DNAAF2dynein axonemal assembly factor 2 | Rzadko (1–4%) | W 1 chorobie |
| DNAAF3dynein axonemal assembly factor 3 | Rzadko (1–4%) | W 1 chorobie |
| DNAAF4dynein axonemal assembly factor 4 | Rzadko (1–4%) | W 1 chorobie |
| DNAAF5dynein axonemal assembly factor 5 | Rzadko (1–4%) | W 1 chorobie |
| DNAAF6dynein axonemal assembly factor 6 | Rzadko (1–4%) | W 1 chorobie |
| DNAH1dynein axonemal heavy chain 1 | Rzadko (1–4%) | W 1 chorobie |
| DNAH11dynein axonemal heavy chain 11 | Rzadko (1–4%) | W 1 chorobie |
| DNAH5dynein axonemal heavy chain 5 | Rzadko (1–4%) | W 1 chorobie |
| DNAH7dynein axonemal heavy chain 7 | Rzadko (1–4%) | W 1 chorobie |
| DNAH9dynein axonemal heavy chain 9 | Rzadko (1–4%) | W 1 chorobie |
| DNAI1dynein axonemal intermediate chain 1 | Rzadko (1–4%) | W 1 chorobie |
| DNAI2dynein axonemal intermediate chain 2 | Rzadko (1–4%) | W 1 chorobie |
| DNAJB13DnaJ heat shock protein family (Hsp40) member B13 | Rzadko (1–4%) | W 1 chorobie |
| DNAL1dynein axonemal light chain 1 | Rzadko (1–4%) | W 1 chorobie |
| DRC1dynein regulatory complex subunit 1 | Rzadko (1–4%) | W 1 chorobie |
| DRC2dynein regulatory complex subunit 2 | Rzadko (1–4%) | W 1 chorobie |
| DRC4dynein regulatory complex subunit 4 | Rzadko (1–4%) | W 1 chorobie |
| FOXJ1forkhead box J1 | Rzadko (1–4%) | W 1 chorobie |
| GAS2L2growth arrest specific 2 like 2 | Rzadko (1–4%) | W 1 chorobie |
| HYDINHYDIN axonemal central pair apparatus protein | Rzadko (1–4%) | W 1 chorobie |
| LRRC56leucine rich repeat containing 56 | Rzadko (1–4%) | W 1 chorobie |
| MCIDASmulticiliate differentiation and DNA synthesis associated cell cycle protein | Rzadko (1–4%) | W 1 chorobie |
| MFN2mitofusin 2 | Rzadko (1–4%) | W 1 chorobie |
| MMACHCmetabolism of cobalamin associated C | Rzadko (1–4%) | W 2 chorobach |
| MT-CYBmitochondrially encoded cytochrome b | Rzadko (1–4%) | W 1 chorobie |
| MTHFRmethylenetetrahydrofolate reductase | Rzadko (1–4%) | W 1 chorobie |
| NEK10NIMA related kinase 10 | Rzadko (1–4%) | W 1 chorobie |
| NF1neurofibromin 1 | Rzadko (1–4%) | W 2 chorobach |
| NME5NME/NM23 family member 5 | Rzadko (1–4%) | W 1 chorobie |
| NME8NME/NM23 family member 8 | Rzadko (1–4%) | W 1 chorobie |
| ODAD1outer dynein arm docking complex subunit 1 | Rzadko (1–4%) | W 1 chorobie |
| ODAD2outer dynein arm docking complex subunit 2 | Rzadko (1–4%) | W 1 chorobie |
| ODAD3outer dynein arm docking complex subunit 3 | Rzadko (1–4%) | W 1 chorobie |
| ODAD4outer dynein arm docking complex subunit 4 | Rzadko (1–4%) | W 1 chorobie |
| RPGRretinitis pigmentosa GTPase regulator | Rzadko (1–4%) | W 1 chorobie |
| RSPH1radial spoke head component 1 | Rzadko (1–4%) | W 1 chorobie |
| RSPH3radial spoke head 3 | Rzadko (1–4%) | W 1 chorobie |
| RSPH4Aradial spoke head component 4A | Rzadko (1–4%) | W 1 chorobie |
| RSPH9radial spoke head component 9 | Rzadko (1–4%) | W 1 chorobie |
| SPAG1sperm associated antigen 1 | Rzadko (1–4%) | W 1 chorobie |
| SPEF2sperm flagellar and cilia associated 2 | Rzadko (1–4%) | W 1 chorobie |
| SPTBN1spectrin beta, non-erythrocytic 1 | Rzadko (1–4%) | W 1 chorobie |
| STK36serine/threonine kinase 36 | Rzadko (1–4%) | W 1 chorobie |
| TTC12tetratricopeptide repeat domain 12 | Rzadko (1–4%) | W 1 chorobie |
| ZMYND10zinc finger MYND-type containing 10 | Rzadko (1–4%) | W 1 chorobie |
| AMER1APC membrane recruitment protein 1 | Nie odnotowano | W 1 chorobie |
| ARSBarylsulfatase B | Nie odnotowano | W 1 chorobie |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Nie odnotowano | W 1 chorobie |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Nie odnotowano | W 1 chorobie |
| CENPFcentromere protein F | Nie odnotowano | W 1 chorobie |
| CHST3carbohydrate sulfotransferase 3 | Nie odnotowano | W 1 chorobie |
| CRB2crumbs cell polarity complex component 2 | Nie odnotowano | W 1 chorobie |
| DHCR77-dehydrocholesterol reductase | Nie odnotowano | W 1 chorobie |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Nie odnotowano | W 1 chorobie |
| FRAS1Fraser extracellular matrix complex subunit 1 | Nie odnotowano | W 1 chorobie |
| FUZfuzzy planar cell polarity protein | Nie odnotowano | W 1 chorobie |
| GPC3glypican 3 | Nie odnotowano | W 1 chorobie |
| GUSBglucuronidase beta | Nie odnotowano | W 1 chorobie |
| HRASHRas proto-oncogene, GTPase | Nie odnotowano | W 1 chorobie |
| IDSiduronate 2-sulfatase | Nie odnotowano | W 1 chorobie |
| MTM1myotubularin 1 | Nie odnotowano | W 1 chorobie |
| MUSKmuscle associated receptor tyrosine kinase | Nie odnotowano | W 1 chorobie |
| P4HBprolyl 4-hydroxylase subunit beta | Nie odnotowano | W 1 chorobie |
| PEX19peroxisomal biogenesis factor 19 | Nie odnotowano | W 1 chorobie |
| PORCNporcupine O-acyltransferase | Nie odnotowano | W 1 chorobie |
| PRDX1peroxiredoxin 1 | Nie odnotowano | W 1 chorobie |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Nie odnotowano | W 1 chorobie |
| RNASEH2Aribonuclease H2 subunit A | Nie odnotowano | W 1 chorobie |
| SF3B2splicing factor 3b subunit 2 | Nie odnotowano | W 1 chorobie |
| SF3B4splicing factor 3b subunit 4 | Nie odnotowano | W 1 chorobie |
| SLC17A5solute carrier family 17 member 5 | Nie odnotowano | W 1 chorobie |
| SLC25A24solute carrier family 25 member 24 | Nie odnotowano | W 1 chorobie |
| SOX9SRY-box transcription factor 9 | Nie odnotowano | W 1 chorobie |
| TBX15T-box transcription factor 15 | Nie odnotowano | W 1 chorobie |
| TBXTT-box transcription factor T | Nie odnotowano | W 1 chorobie |
| VANGL2VANGL planar cell polarity protein 2 | Nie odnotowano | W 1 chorobie |
Jak często występuje wśród osób z jedną z chorób związanych z tym genem, najczęściej spośród wszystkich, według danych Human Phenotype Ontology. Te strony opisują cechy i badania, na których się opierają; nie są diagnozą, a w sprawie objawów należy zwrócić się do lekarza lub doradcy genetycznego.
Cechy podrzędne
Cechy nadrzędne
Skąd pochodzą te dane
- Human Phenotype Ontology, wydanie 2026-09-01: cecha, jej nazwy, definicja oraz geny z nią powiązane. Więcej informacji znajdą Państwo na stronie hpo.jax.org.
- Wydanie danych 2026.10.16-c6eea6bf.
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