Özellik
Too much cerebrospinal fluid in the brain
Klinik adı: 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.
Özet
- Diğer adları
- Hydrocephaly, Nonsyndromal hydrocephalus
- Vücut sistemi
- Abnormality of the nervous system
Referans genomGRCh38hg38
Gen ve varyant sayfalarındaki konumlar, bu tarayıcıda yaptığınız bu seçimi izler.
Read the genes linked to Too much cerebrospinal fluid in the brain, and the rest of your genome, with one test.
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Genome Test'imi alToo much cerebrospinal fluid in the brain ile ilişkili 409 gen
Bu genlerdeki değişiklikler, Too much cerebrospinal fluid in the brain özelliğinin görüldüğü nadir durumlara yol açar. Bu özelliğe sahip çoğu kişide bu durumlardan hiçbiri yoktur; ayrıca bu listedeki bir gen, kimsenin kendi genomu hakkında bir şey söylemez.
| Gen | Ne sıklıkla görüldüğü | Durumlar |
|---|---|---|
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Her zaman | 1 durumda |
| B4GALT1beta-1,4-galactosyltransferase 1 | Her zaman | 2 durumda |
| BLTP1bridge-like lipid transfer protein family member 1 | Her zaman | 1 durumda |
| CC2D2Acoiled-coil and C2 domain containing 2A | Her zaman | 5 durumda |
| CCDC88Ccoiled-coil and HOOK domain protein 88C | Her zaman | 1 durumda |
| CILK1ciliogenesis associated kinase 1 | Her zaman | 2 durumda |
| CRPPACDP-L-ribitol pyrophosphorylase A | Her zaman | 3 durumda |
| CST3cystatin C | Her zaman | 1 durumda |
| EML1EMAP like 1 | Her zaman | 1 durumda |
| FBN1fibrillin 1 | Her zaman | 1 durumda |
| FBXL4F-box and leucine rich repeat protein 4 | Her zaman | 1 durumda |
| FGFR2fibroblast growth factor receptor 2 | Her zaman | 9 durumda |
| FGFR3fibroblast growth factor receptor 3 | Her zaman | 9 durumda |
| FKRPfukutin related protein | Her zaman | 5 durumda |
| FLVCR1FLVCR choline and heme transporter 1 | Her zaman | 1 durumda |
| GTPBP2GTP binding protein 2 | Her zaman | 1 durumda |
| HES7hes family bHLH transcription factor 7 | Her zaman | 1 durumda |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Her zaman | 1 durumda |
| L1CAML1 cell adhesion molecule | Her zaman | 4 durumda |
| LAMB1laminin subunit beta 1 | Her zaman | 2 durumda |
| MPDZmultiple PDZ domain crumbs cell polarity complex component | Her zaman | 1 durumda |
| NADK2NAD kinase 2, mitochondrial | Her zaman | 1 durumda |
| PIK3R2phosphoinositide-3-kinase regulatory subunit 2 | Her zaman | 2 durumda |
| PLGplasminogen | Her zaman | 2 durumda |
| POLR1ARNA polymerase I subunit A | Her zaman | 1 durumda |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Her zaman | 4 durumda |
| POMKprotein O-mannose kinase | Her zaman | 3 durumda |
| POMT2protein O-mannosyltransferase 2 | Her zaman | 5 durumda |
| RAD51RAD51 recombinase | Her zaman | 2 durumda |
| SPINK5serine peptidase inhibitor Kazal type 5 | Her zaman | 1 durumda |
| SPOUT1SPOUT domain containing methyltransferase 1 | Her zaman | 1 durumda |
| YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | Her zaman | 1 durumda |
| ZFPM2zinc finger protein, FOG family member 2 | Her zaman | 1 durumda |
| ZPR1ZPR1 zinc finger | Her zaman | 1 durumda |
| ZRSR2zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 | Her zaman | 1 durumda |
| AKT3AKT serine/threonine kinase 3 | Çok sık (%80–99) | 2 durumda |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Çok sık (%80–99) | 2 durumda |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Çok sık (%80–99) | 3 durumda |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Çok sık (%80–99) | 2 durumda |
| CCND2cyclin D2 | Çok sık (%80–99) | 2 durumda |
369 gen daha göster
| Gen | Ne sıklıkla görüldüğü | Durumlar |
|---|---|---|
| CLCN7Cl-/H+ antiporter 7 | Çok sık (%80–99) | 2 durumda |
| COL4A1collagen type IV alpha 1 chain | Çok sık (%80–99) | 2 durumda |
| DAG1dystroglycan 1 | Çok sık (%80–99) | 2 durumda |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Çok sık (%80–99) | 1 durumda |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Çok sık (%80–99) | 1 durumda |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Çok sık (%80–99) | 2 durumda |
| ERCC5ERCC excision repair 5, endonuclease | Çok sık (%80–99) | 1 durumda |
| ESAMendothelial cell adhesion molecule | Çok sık (%80–99) | 1 durumda |
| FANCBFA complementation group B | Çok sık (%80–99) | 3 durumda |
| FKTNfukutin | Çok sık (%80–99) | 5 durumda |
| GMPPBGDP-mannose pyrophosphorylase B | Çok sık (%80–99) | 2 durumda |
| HDAC6histone deacetylase 6 | Çok sık (%80–99) | 2 durumda |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Çok sık (%80–99) | 2 durumda |
| KIF7kinesin family member 7 | Çok sık (%80–99) | 2 durumda |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Çok sık (%80–99) | 4 durumda |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Çok sık (%80–99) | 1 durumda |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Çok sık (%80–99) | 2 durumda |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Çok sık (%80–99) | 2 durumda |
| POMT1protein O-mannosyltransferase 1 | Çok sık (%80–99) | 5 durumda |
| PTENphosphatase and tensin homolog | Çok sık (%80–99) | 2 durumda |
| RSPO2R-spondin 2 | Çok sık (%80–99) | 1 durumda |
| RXYLT1ribitol xylosyltransferase 1 | Çok sık (%80–99) | 1 durumda |
| SEC24DSEC24 homolog D, COPII component | Çok sık (%80–99) | 1 durumda |
| SNX10sorting nexin 10 | Çok sık (%80–99) | 1 durumda |
| TBX4T-box transcription factor 4 | Çok sık (%80–99) | 1 durumda |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Çok sık (%80–99) | 2 durumda |
| TNFSF11TNF superfamily member 11 | Çok sık (%80–99) | 2 durumda |
| TP53tumor protein p53 | Çok sık (%80–99) | 2 durumda |
| WDR81WD repeat domain 81 | Çok sık (%80–99) | 1 durumda |
| WNT3Wnt family member 3 | Çok sık (%80–99) | 2 durumda |
| ZBTB20zinc finger and BTB domain containing 20 | Çok sık (%80–99) | 1 durumda |
| ZIC1Zic family zinc finger 1 | Çok sık (%80–99) | 1 durumda |
| ZIC4Zic family zinc finger 4 | Çok sık (%80–99) | 1 durumda |
| ALDH7A1aldehyde dehydrogenase 7 family member A1 | Sık (%30–79) | 1 durumda |
| ARHGAP31Rho GTPase activating protein 31 | Sık (%30–79) | 1 durumda |
| B3GALT6beta-1,3-galactosyltransferase 6 | Sık (%30–79) | 1 durumda |
| B3GLCTbeta 3-glucosyltransferase | Sık (%30–79) | 2 durumda |
| CASP2caspase 2 | Sık (%30–79) | 1 durumda |
| CCDC22CCC complex scaffolding subunit CCDC22 | Sık (%30–79) | 1 durumda |
| COL18A1collagen type XVIII alpha 1 chain | Sık (%30–79) | 1 durumda |
| CSF1Rcolony stimulating factor 1 receptor | Sık (%30–79) | 1 durumda |
| CYP26C1cytochrome P450 family 26 subfamily C member 1 | Sık (%30–79) | 1 durumda |
| DENND5ADENN domain containing 5A | Sık (%30–79) | 1 durumda |
| DLL4delta like canonical Notch ligand 4 | Sık (%30–79) | 1 durumda |
| DOCK6dedicator of cytokinesis 6 | Sık (%30–79) | 2 durumda |
| DPH1diphthamide biosynthesis 1 | Sık (%30–79) | 1 durumda |
| DPH2diphthamide biosynthesis 2 | Sık (%30–79) | 1 durumda |
| DPYSL5dihydropyrimidinase like 5 | Sık (%30–79) | 1 durumda |
| EBPEBP cholestenol delta-isomerase | Sık (%30–79) | 2 durumda |
| EOGTEGF domain specific O-linked N-acetylglucosamine transferase | Sık (%30–79) | 1 durumda |
| FAAP100FA core complex associated protein 100 | Sık (%30–79) | 2 durumda |
| FAM111AFAM111 trypsin like peptidase A | Sık (%30–79) | 1 durumda |
| FANCLFA complementation group L | Sık (%30–79) | 2 durumda |
| FLNAfilamin A | Sık (%30–79) | 2 durumda |
| FLVCR2FLVCR choline and putative heme transporter 2 | Sık (%30–79) | 1 durumda |
| FTOFTO alpha-ketoglutarate dependent dioxygenase | Sık (%30–79) | 1 durumda |
| GPSM2G protein signaling modulator 2 | Sık (%30–79) | 1 durumda |
| GRIP1glutamate receptor interacting protein 1 | Sık (%30–79) | 1 durumda |
| H4C9H4 clustered histone 9 | Sık (%30–79) | 1 durumda |
| HBA1hemoglobin subunit alpha 1 | Sık (%30–79) | 1 durumda |
| HBA2hemoglobin subunit alpha 2 | Sık (%30–79) | 1 durumda |
| IDUAalpha-L-iduronidase | Sık (%30–79) | 2 durumda |
| IFT43intraflagellar transport 43 | Sık (%30–79) | 1 durumda |
| KDM6Alysine demethylase 6A | Sık (%30–79) | 2 durumda |
| KDM6Blysine demethylase 6B | Sık (%30–79) | 1 durumda |
| KMT2Dlysine methyltransferase 2D | Sık (%30–79) | 2 durumda |
| MAFMAF bZIP transcription factor | Sık (%30–79) | 1 durumda |
| NFIXnuclear factor I X | Sık (%30–79) | 1 durumda |
| NKX3-2NK3 homeobox 2 | Sık (%30–79) | 1 durumda |
| NOTCH1notch receptor 1 | Sık (%30–79) | 1 durumda |
| OGDHoxoglutarate dehydrogenase | Sık (%30–79) | 1 durumda |
| PAK2p21 (RAC1) activated kinase 2 | Sık (%30–79) | 1 durumda |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Sık (%30–79) | 1 durumda |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Sık (%30–79) | 1 durumda |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Sık (%30–79) | 3 durumda |
| PLCH1phospholipase C eta 1 | Sık (%30–79) | 2 durumda |
| POLR3ARNA polymerase III subunit A | Sık (%30–79) | 2 durumda |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Sık (%30–79) | 1 durumda |
| PPP2R1Aprotein phosphatase 2 scaffold subunit Aalpha | Sık (%30–79) | 2 durumda |
| PTCH1patched 1 | Sık (%30–79) | 8 durumda |
| PYCR1pyrroline-5-carboxylate reductase 1 | Sık (%30–79) | 1 durumda |
| RBPJrecombination signal binding protein for immunoglobulin kappa J region | Sık (%30–79) | 1 durumda |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Sık (%30–79) | 1 durumda |
| SIK3SIK family kinase 3 | Sık (%30–79) | 1 durumda |
| SKISKI proto-oncogene | Sık (%30–79) | 1 durumda |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Sık (%30–79) | 2 durumda |
| SUFUSUFU negative regulator of hedgehog signaling | Sık (%30–79) | 4 durumda |
| SUMF1sulfatase modifying factor 1 | Sık (%30–79) | 2 durumda |
| TBCKTBC1 domain containing kinase | Sık (%30–79) | 1 durumda |
| TMEM237transmembrane protein 237 | Sık (%30–79) | 5 durumda |
| TMTC3transmembrane O-mannosyltransferase targeting cadherins 3 | Sık (%30–79) | 1 durumda |
| VPS35LVPS35 endosomal protein sorting factor like | Sık (%30–79) | 1 durumda |
| VSX1visual system homeobox 1 | Sık (%30–79) | 1 durumda |
| WASHC5WASH complex subunit 5 | Sık (%30–79) | 2 durumda |
| ZNHIT3zinc finger HIT-type containing 3 | Sık (%30–79) | 1 durumda |
| AHI1Abelson helper integration site 1 | Bazen (%5–29) | 2 durumda |
| AIPAHR interacting HSP90 co-chaperone | Bazen (%5–29) | 1 durumda |
| AKT1AKT serine/threonine kinase 1 | Bazen (%5–29) | 1 durumda |
| ALKALK receptor tyrosine kinase | Bazen (%5–29) | 1 durumda |
| ARL13BARF like GTPase 13B | Bazen (%5–29) | 1 durumda |
| ARL3ARF like GTPase 3 | Bazen (%5–29) | 1 durumda |
| ARMC9armadillo repeat containing 9 | Bazen (%5–29) | 1 durumda |
| ARVCFARVCF delta catenin family member | Bazen (%5–29) | 1 durumda |
| B9D1B9 domain containing 1 | Bazen (%5–29) | 2 durumda |
| B9D2B9 domain containing 2 | Bazen (%5–29) | 2 durumda |
| BAP1BRCA1 associated deubiquitinase 1 | Bazen (%5–29) | 1 durumda |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Bazen (%5–29) | 4 durumda |
| BRCA1BRCA1 DNA repair associated | Bazen (%5–29) | 1 durumda |
| BRCA2BRCA2 DNA repair associated | Bazen (%5–29) | 1 durumda |
| BRIP1BRCA1 interacting DNA helicase 1 | Bazen (%5–29) | 1 durumda |
| CBY1chibby 1, beta catenin antagonist | Bazen (%5–29) | 1 durumda |
| CD4CD4 molecule | Bazen (%5–29) | 1 durumda |
| CDC40cell division cycle 40 | Bazen (%5–29) | 1 durumda |
| CDONcell adhesion associated, oncogene regulated | Bazen (%5–29) | 4 durumda |
| CEP104centrosomal protein 104 | Bazen (%5–29) | 1 durumda |
| CEP120centrosomal protein 120 | Bazen (%5–29) | 2 durumda |
| CEP290centrosomal protein 290 | Bazen (%5–29) | 3 durumda |
| CEP41centrosomal protein 41 | Bazen (%5–29) | 2 durumda |
| CEP83centrosomal protein 83 | Bazen (%5–29) | 1 durumda |
| CLCN3Cl-/H+ antiporter 3 | Bazen (%5–29) | 1 durumda |
| COG6component of oligomeric golgi complex 6 | Bazen (%5–29) | 1 durumda |
| COMTcatechol-O-methyltransferase | Bazen (%5–29) | 1 durumda |
| COX7Bcytochrome c oxidase subunit 7B | Bazen (%5–29) | 2 durumda |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Bazen (%5–29) | 1 durumda |
| CPLX1complexin 1 | Bazen (%5–29) | 1 durumda |
| CPT2carnitine palmitoyltransferase 2 | Bazen (%5–29) | 1 durumda |
| CRIPTOcripto, EGF-CFC family member | Bazen (%5–29) | 4 durumda |
| CSPP1centrosome and spindle pole associated protein 1 | Bazen (%5–29) | 2 durumda |
| CTBP1C-terminal binding protein 1 | Bazen (%5–29) | 1 durumda |
| CTNNB1catenin beta 1 | Bazen (%5–29) | 1 durumda |
| DCCDCC netrin 1 receptor | Bazen (%5–29) | 1 durumda |
| DHCR2424-dehydrocholesterol reductase | Bazen (%5–29) | 2 durumda |
| DISP1dispatched RND transporter family member 1 | Bazen (%5–29) | 4 durumda |
| DLL1delta like canonical Notch ligand 1 | Bazen (%5–29) | 5 durumda |
| FAM20CFAM20C golgi associated secretory pathway kinase | Bazen (%5–29) | 1 durumda |
| FANCAFA complementation group A | Bazen (%5–29) | 1 durumda |
| FANCCFA complementation group C | Bazen (%5–29) | 1 durumda |
| FANCD2FA complementation group D2 | Bazen (%5–29) | 2 durumda |
| FANCEFA complementation group E | Bazen (%5–29) | 1 durumda |
| FANCFFA complementation group F | Bazen (%5–29) | 1 durumda |
| FANCGFA complementation group G | Bazen (%5–29) | 1 durumda |
| FANCIFA complementation group I | Bazen (%5–29) | 1 durumda |
| FANCMFA complementation group M | Bazen (%5–29) | 1 durumda |
| FBXO22F-box protein 22 | Bazen (%5–29) | 1 durumda |
| FGF8fibroblast growth factor 8 | Bazen (%5–29) | 4 durumda |
| FGFR1fibroblast growth factor receptor 1 | Bazen (%5–29) | 4 durumda |
| FGFRL1fibroblast growth factor receptor like 1 | Bazen (%5–29) | 1 durumda |
| FIG4FIG4 phosphoinositide 5-phosphatase | Bazen (%5–29) | 1 durumda |
| FOXH1forkhead box H1 | Bazen (%5–29) | 4 durumda |
| GALCgalactosylceramidase | Bazen (%5–29) | 2 durumda |
| GAS1growth arrest specific 1 | Bazen (%5–29) | 4 durumda |
| GBA1glucosylceramidase beta 1 | Bazen (%5–29) | 3 durumda |
| GCDHglutaryl-CoA dehydrogenase | Bazen (%5–29) | 1 durumda |
| GFAPglial fibrillary acidic protein | Bazen (%5–29) | 2 durumda |
| GLI2GLI family zinc finger 2 | Bazen (%5–29) | 5 durumda |
| GLI3GLI family zinc finger 3 | Bazen (%5–29) | 2 durumda |
| GNAQG protein subunit alpha q | Bazen (%5–29) | 1 durumda |
| GP1BBglycoprotein Ib platelet subunit beta | Bazen (%5–29) | 1 durumda |
| GPR101G protein-coupled receptor 101 | Bazen (%5–29) | 1 durumda |
| HCCSholocytochrome c synthase | Bazen (%5–29) | 2 durumda |
| HIRAhistone cell cycle regulator | Bazen (%5–29) | 1 durumda |
| HNRNPUheterogeneous nuclear ribonucleoprotein U | Bazen (%5–29) | 1 durumda |
| HSPG2heparan sulfate proteoglycan 2 | Bazen (%5–29) | 1 durumda |
| IFT172intraflagellar transport 172 | Bazen (%5–29) | 1 durumda |
| IFT56intraflagellar transport 56 | Bazen (%5–29) | 1 durumda |
| IFT74intraflagellar transport 74 | Bazen (%5–29) | 1 durumda |
| INPP5Einositol polyphosphate-5-phosphatase E | Bazen (%5–29) | 3 durumda |
| IRF4interferon regulatory factor 4 | Bazen (%5–29) | 1 durumda |
| JMJD1Cjumonji domain containing 1C | Bazen (%5–29) | 1 durumda |
| KATNIPkatanin interacting protein | Bazen (%5–29) | 1 durumda |
| KDM2Blysine demethylase 2B | Bazen (%5–29) | 1 durumda |
| KIAA0586KIAA0586 | Bazen (%5–29) | 2 durumda |
| KIAA0753KIAA0753 | Bazen (%5–29) | 1 durumda |
| KIF26Akinesin family member 26A | Bazen (%5–29) | 1 durumda |
| KRASKRas proto-oncogene, GTPase | Bazen (%5–29) | 2 durumda |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Bazen (%5–29) | 1 durumda |
| LMBR1limb development membrane protein 1 | Bazen (%5–29) | 1 durumda |
| MAD2L2mitotic arrest deficient 2 like 2 | Bazen (%5–29) | 1 durumda |
| MAP2K1mitogen-activated protein kinase kinase 1 | Bazen (%5–29) | 2 durumda |
| MAP2K2mitogen-activated protein kinase kinase 2 | Bazen (%5–29) | 2 durumda |
| MED12mediator complex subunit 12 | Bazen (%5–29) | 2 durumda |
| MKS1MKS transition zone complex subunit 1 | Bazen (%5–29) | 4 durumda |
| MNX1motor neuron and pancreas homeobox 1 | Bazen (%5–29) | 1 durumda |
| MTRR5-methyltetrahydrofolate-homocysteine methyltransferase reductase | Bazen (%5–29) | 1 durumda |
| MYT1Lmyelin transcription factor 1 like | Bazen (%5–29) | 1 durumda |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Bazen (%5–29) | 2 durumda |
| NEK1NIMA related kinase 1 | Bazen (%5–29) | 1 durumda |
| NEU1neuraminidase 1 | Bazen (%5–29) | 1 durumda |
| NF2NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | Bazen (%5–29) | 2 durumda |
| NODALnodal growth differentiation factor | Bazen (%5–29) | 4 durumda |
| NOTCH2notch receptor 2 | Bazen (%5–29) | 2 durumda |
| NOTCH3notch receptor 3 | Bazen (%5–29) | 1 durumda |
| NPHP1nephrocystin 1 | Bazen (%5–29) | 1 durumda |
| NRASNRAS proto-oncogene, GTPase | Bazen (%5–29) | 2 durumda |
| NRCAMneuronal cell adhesion molecule | Bazen (%5–29) | 1 durumda |
| NSD2nuclear receptor binding SET domain protein 2 | Bazen (%5–29) | 1 durumda |
| OFD1OFD1 centriole and centriolar satellite protein | Bazen (%5–29) | 3 durumda |
| PAK3p21 (RAC1) activated kinase 3 | Bazen (%5–29) | 1 durumda |
| PALB2partner and localizer of BRCA2 | Bazen (%5–29) | 1 durumda |
| PDE6Dphosphodiesterase 6D | Bazen (%5–29) | 1 durumda |
| PDGFBplatelet derived growth factor subunit B | Bazen (%5–29) | 1 durumda |
| PIBF1progesterone immunomodulatory binding factor 1 | Bazen (%5–29) | 1 durumda |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Bazen (%5–29) | 1 durumda |
| PORcytochrome p450 oxidoreductase | Bazen (%5–29) | 2 durumda |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Bazen (%5–29) | 1 durumda |
| PRKAG2protein kinase AMP-activated non-catalytic subunit gamma 2 | Bazen (%5–29) | 1 durumda |
| PSAPprosaposin | Bazen (%5–29) | 1 durumda |
| PTCH2patched 2 | Bazen (%5–29) | 1 durumda |
| PTDSS1phosphatidylserine synthase 1 | Bazen (%5–29) | 1 durumda |
| RAC3Rac family small GTPase 3 | Bazen (%5–29) | 1 durumda |
| RAD51CRAD51 paralog C | Bazen (%5–29) | 1 durumda |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Bazen (%5–29) | 1 durumda |
| RECQL4RecQ like helicase 4 | Bazen (%5–29) | 1 durumda |
| RFWD3ring finger and WD repeat domain 3 | Bazen (%5–29) | 1 durumda |
| RNF125ring finger protein 125 | Bazen (%5–29) | 1 durumda |
| RNU4ATACRNA, U4atac small nuclear | Bazen (%5–29) | 1 durumda |
| ROBO1roundabout guidance receptor 1 | Bazen (%5–29) | 1 durumda |
| ROGDIrogdi atypical leucine zipper | Bazen (%5–29) | 1 durumda |
| RPGRIP1RPGR interacting protein 1 | Bazen (%5–29) | 1 durumda |
| RPGRIP1LRPGRIP1 like | Bazen (%5–29) | 3 durumda |
| RREB1ras responsive element binding protein 1 | Bazen (%5–29) | 1 durumda |
| SALL1spalt like transcription factor 1 | Bazen (%5–29) | 1 durumda |
| SAMD9sterile alpha motif domain containing 9 | Bazen (%5–29) | 1 durumda |
| SEC24CSEC24 homolog C, COPII component | Bazen (%5–29) | 1 durumda |
| SHHsonic hedgehog signaling molecule | Bazen (%5–29) | 4 durumda |
| SIX3SIX homeobox 3 | Bazen (%5–29) | 4 durumda |
| SLC13A5solute carrier family 13 member 5 | Bazen (%5–29) | 1 durumda |
| SLC29A3solute carrier family 29 member 3 | Bazen (%5–29) | 1 durumda |
| SLC32A1solute carrier family 32 member 1 | Bazen (%5–29) | 1 durumda |
| SLX4SLX4 structure-specific endonuclease subunit | Bazen (%5–29) | 1 durumda |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Bazen (%5–29) | 1 durumda |
| SMC1Astructural maintenance of chromosomes 1A | Bazen (%5–29) | 1 durumda |
| SMOsmoothened, frizzled class receptor | Bazen (%5–29) | 2 durumda |
| SMOC1SPARC related modular calcium binding 1 | Bazen (%5–29) | 1 durumda |
| SOX2SRY-box transcription factor 2 | Bazen (%5–29) | 1 durumda |
| SOX5SRY-box transcription factor 5 | Bazen (%5–29) | 1 durumda |
| STAG2STAG2 cohesin complex component | Bazen (%5–29) | 2 durumda |
| STILSTIL centriolar assembly protein | Bazen (%5–29) | 4 durumda |
| TAF2TATA-box binding protein associated factor 2 | Bazen (%5–29) | 2 durumda |
| TAOK1TAO kinase 1 | Bazen (%5–29) | 1 durumda |
| TBX1T-box transcription factor 1 | Bazen (%5–29) | 1 durumda |
| TCOF1treacle ribosome biogenesis factor 1 | Bazen (%5–29) | 1 durumda |
| TCTN1tectonic family member 1 | Bazen (%5–29) | 2 durumda |
| TCTN2tectonic family member 2 | Bazen (%5–29) | 2 durumda |
| TCTN3tectonic family member 3 | Bazen (%5–29) | 2 durumda |
| TERTtelomerase reverse transcriptase | Bazen (%5–29) | 1 durumda |
| TGFBR1transforming growth factor beta receptor 1 | Bazen (%5–29) | 1 durumda |
| TGFBR2transforming growth factor beta receptor 2 | Bazen (%5–29) | 1 durumda |
| TGIF1TGFB induced factor homeobox 1 | Bazen (%5–29) | 4 durumda |
| TMEM107transmembrane protein 107 | Bazen (%5–29) | 1 durumda |
| TMEM138transmembrane protein 138 | Bazen (%5–29) | 1 durumda |
| TMEM216transmembrane protein 216 | Bazen (%5–29) | 3 durumda |
| TMEM218transmembrane protein 218 | Bazen (%5–29) | 1 durumda |
| TMEM222transmembrane protein 222 | Bazen (%5–29) | 1 durumda |
| TMEM231transmembrane protein 231 | Bazen (%5–29) | 2 durumda |
| TMEM67transmembrane protein 67 | Bazen (%5–29) | 4 durumda |
| TNFRSF11ATNF receptor superfamily member 11a | Bazen (%5–29) | 1 durumda |
| TOE1target of EGR1, exonuclease | Bazen (%5–29) | 1 durumda |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Bazen (%5–29) | 1 durumda |
| TRAF7TNF receptor associated factor 7 | Bazen (%5–29) | 1 durumda |
| TREM2triggering receptor expressed on myeloid cells 2 | Bazen (%5–29) | 1 durumda |
| TRMT1tRNA methyltransferase 1 | Bazen (%5–29) | 1 durumda |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Bazen (%5–29) | 1 durumda |
| TSC1TSC complex subunit 1 | Bazen (%5–29) | 1 durumda |
| TSC2TSC complex subunit 2 | Bazen (%5–29) | 1 durumda |
| TXNDC15thioredoxin domain containing 15 | Bazen (%5–29) | 1 durumda |
| TYROBPtransmembrane immune signaling adaptor TYROBP | Bazen (%5–29) | 1 durumda |
| UBE2Tubiquitin conjugating enzyme E2 T | Bazen (%5–29) | 1 durumda |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Bazen (%5–29) | 1 durumda |
| UNC45Aunc-45 myosin chaperone A | Bazen (%5–29) | 1 durumda |
| USP7ubiquitin specific peptidase 7 | Bazen (%5–29) | 1 durumda |
| VAC14VAC14 component of PIKFYVE complex | Bazen (%5–29) | 1 durumda |
| VANGL1VANGL planar cell polarity protein 1 | Bazen (%5–29) | 2 durumda |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Bazen (%5–29) | 1 durumda |
| XRCC2X-ray repair cross complementing 2 | Bazen (%5–29) | 1 durumda |
| ZEB2zinc finger E-box binding homeobox 2 | Bazen (%5–29) | 1 durumda |
| ZIC2Zic family zinc finger 2 | Bazen (%5–29) | 5 durumda |
| ZIC3Zic family zinc finger 3 | Bazen (%5–29) | 2 durumda |
| ZNF423zinc finger protein 423 | Bazen (%5–29) | 1 durumda |
| ACBD6acyl-CoA binding domain containing 6 | Seyrek (%1–4) | 1 durumda |
| BRWD1bromodomain and WD repeat domain containing 1 | Seyrek (%1–4) | 1 durumda |
| CCDC39coiled-coil domain 39 molecular ruler complex subunit | Seyrek (%1–4) | 1 durumda |
| CCDC40coiled-coil domain 40 molecular ruler complex subunit | Seyrek (%1–4) | 1 durumda |
| CCNOcyclin O | Seyrek (%1–4) | 1 durumda |
| CFAP221cilia and flagella associated protein 221 | Seyrek (%1–4) | 1 durumda |
| CFAP298cilia and flagella associated protein 298 | Seyrek (%1–4) | 1 durumda |
| CFAP300cilia and flagella associated protein 300 | Seyrek (%1–4) | 1 durumda |
| CFAP74cilia and flagella associated protein 74 | Seyrek (%1–4) | 1 durumda |
| CLXNcalaxin | Seyrek (%1–4) | 1 durumda |
| DAW1dynein assembly factor with WD repeats 1 | Seyrek (%1–4) | 1 durumda |
| DNAAF1dynein axonemal assembly factor 1 | Seyrek (%1–4) | 1 durumda |
| DNAAF11dynein axonemal assembly factor 11 | Seyrek (%1–4) | 1 durumda |
| DNAAF19dynein axonemal assembly factor 19 | Seyrek (%1–4) | 1 durumda |
| DNAAF2dynein axonemal assembly factor 2 | Seyrek (%1–4) | 1 durumda |
| DNAAF3dynein axonemal assembly factor 3 | Seyrek (%1–4) | 1 durumda |
| DNAAF4dynein axonemal assembly factor 4 | Seyrek (%1–4) | 1 durumda |
| DNAAF5dynein axonemal assembly factor 5 | Seyrek (%1–4) | 1 durumda |
| DNAAF6dynein axonemal assembly factor 6 | Seyrek (%1–4) | 1 durumda |
| DNAH1dynein axonemal heavy chain 1 | Seyrek (%1–4) | 1 durumda |
| DNAH11dynein axonemal heavy chain 11 | Seyrek (%1–4) | 1 durumda |
| DNAH5dynein axonemal heavy chain 5 | Seyrek (%1–4) | 1 durumda |
| DNAH7dynein axonemal heavy chain 7 | Seyrek (%1–4) | 1 durumda |
| DNAH9dynein axonemal heavy chain 9 | Seyrek (%1–4) | 1 durumda |
| DNAI1dynein axonemal intermediate chain 1 | Seyrek (%1–4) | 1 durumda |
| DNAI2dynein axonemal intermediate chain 2 | Seyrek (%1–4) | 1 durumda |
| DNAJB13DnaJ heat shock protein family (Hsp40) member B13 | Seyrek (%1–4) | 1 durumda |
| DNAL1dynein axonemal light chain 1 | Seyrek (%1–4) | 1 durumda |
| DRC1dynein regulatory complex subunit 1 | Seyrek (%1–4) | 1 durumda |
| DRC2dynein regulatory complex subunit 2 | Seyrek (%1–4) | 1 durumda |
| DRC4dynein regulatory complex subunit 4 | Seyrek (%1–4) | 1 durumda |
| FOXJ1forkhead box J1 | Seyrek (%1–4) | 1 durumda |
| GAS2L2growth arrest specific 2 like 2 | Seyrek (%1–4) | 1 durumda |
| HYDINHYDIN axonemal central pair apparatus protein | Seyrek (%1–4) | 1 durumda |
| LRRC56leucine rich repeat containing 56 | Seyrek (%1–4) | 1 durumda |
| MCIDASmulticiliate differentiation and DNA synthesis associated cell cycle protein | Seyrek (%1–4) | 1 durumda |
| MFN2mitofusin 2 | Seyrek (%1–4) | 1 durumda |
| MMACHCmetabolism of cobalamin associated C | Seyrek (%1–4) | 2 durumda |
| MT-CYBmitochondrially encoded cytochrome b | Seyrek (%1–4) | 1 durumda |
| MTHFRmethylenetetrahydrofolate reductase | Seyrek (%1–4) | 1 durumda |
| NEK10NIMA related kinase 10 | Seyrek (%1–4) | 1 durumda |
| NF1neurofibromin 1 | Seyrek (%1–4) | 2 durumda |
| NME5NME/NM23 family member 5 | Seyrek (%1–4) | 1 durumda |
| NME8NME/NM23 family member 8 | Seyrek (%1–4) | 1 durumda |
| ODAD1outer dynein arm docking complex subunit 1 | Seyrek (%1–4) | 1 durumda |
| ODAD2outer dynein arm docking complex subunit 2 | Seyrek (%1–4) | 1 durumda |
| ODAD3outer dynein arm docking complex subunit 3 | Seyrek (%1–4) | 1 durumda |
| ODAD4outer dynein arm docking complex subunit 4 | Seyrek (%1–4) | 1 durumda |
| RPGRretinitis pigmentosa GTPase regulator | Seyrek (%1–4) | 1 durumda |
| RSPH1radial spoke head component 1 | Seyrek (%1–4) | 1 durumda |
| RSPH3radial spoke head 3 | Seyrek (%1–4) | 1 durumda |
| RSPH4Aradial spoke head component 4A | Seyrek (%1–4) | 1 durumda |
| RSPH9radial spoke head component 9 | Seyrek (%1–4) | 1 durumda |
| SPAG1sperm associated antigen 1 | Seyrek (%1–4) | 1 durumda |
| SPEF2sperm flagellar and cilia associated 2 | Seyrek (%1–4) | 1 durumda |
| SPTBN1spectrin beta, non-erythrocytic 1 | Seyrek (%1–4) | 1 durumda |
| STK36serine/threonine kinase 36 | Seyrek (%1–4) | 1 durumda |
| TTC12tetratricopeptide repeat domain 12 | Seyrek (%1–4) | 1 durumda |
| ZMYND10zinc finger MYND-type containing 10 | Seyrek (%1–4) | 1 durumda |
| AMER1APC membrane recruitment protein 1 | Kaydedilmedi | 1 durumda |
| ARSBarylsulfatase B | Kaydedilmedi | 1 durumda |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Kaydedilmedi | 1 durumda |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Kaydedilmedi | 1 durumda |
| CENPFcentromere protein F | Kaydedilmedi | 1 durumda |
| CHST3carbohydrate sulfotransferase 3 | Kaydedilmedi | 1 durumda |
| CRB2crumbs cell polarity complex component 2 | Kaydedilmedi | 1 durumda |
| DHCR77-dehydrocholesterol reductase | Kaydedilmedi | 1 durumda |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Kaydedilmedi | 1 durumda |
| FRAS1Fraser extracellular matrix complex subunit 1 | Kaydedilmedi | 1 durumda |
| FUZfuzzy planar cell polarity protein | Kaydedilmedi | 1 durumda |
| GPC3glypican 3 | Kaydedilmedi | 1 durumda |
| GUSBglucuronidase beta | Kaydedilmedi | 1 durumda |
| HRASHRas proto-oncogene, GTPase | Kaydedilmedi | 1 durumda |
| IDSiduronate 2-sulfatase | Kaydedilmedi | 1 durumda |
| MTM1myotubularin 1 | Kaydedilmedi | 1 durumda |
| MUSKmuscle associated receptor tyrosine kinase | Kaydedilmedi | 1 durumda |
| P4HBprolyl 4-hydroxylase subunit beta | Kaydedilmedi | 1 durumda |
| PEX19peroxisomal biogenesis factor 19 | Kaydedilmedi | 1 durumda |
| PORCNporcupine O-acyltransferase | Kaydedilmedi | 1 durumda |
| PRDX1peroxiredoxin 1 | Kaydedilmedi | 1 durumda |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Kaydedilmedi | 1 durumda |
| RNASEH2Aribonuclease H2 subunit A | Kaydedilmedi | 1 durumda |
| SF3B2splicing factor 3b subunit 2 | Kaydedilmedi | 1 durumda |
| SF3B4splicing factor 3b subunit 4 | Kaydedilmedi | 1 durumda |
| SLC17A5solute carrier family 17 member 5 | Kaydedilmedi | 1 durumda |
| SLC25A24solute carrier family 25 member 24 | Kaydedilmedi | 1 durumda |
| SOX9SRY-box transcription factor 9 | Kaydedilmedi | 1 durumda |
| TBX15T-box transcription factor 15 | Kaydedilmedi | 1 durumda |
| TBXTT-box transcription factor T | Kaydedilmedi | 1 durumda |
| VANGL2VANGL planar cell polarity protein 2 | Kaydedilmedi | 1 durumda |
Bu özelliğin, genin ilişkili olduğu durumlardan birine sahip kişiler arasında ne sıklıkta görüldüğü; Human Phenotype Ontology'nin kaydettiği şekliyle, bunlar arasında en sık görülen oran. Bu sayfalar özellikleri ve bunların arkasındaki araştırmaları anlatır; tanı koymaz. Belirtiler hakkında bir doktora veya genetik danışmana başvurmanız gerekir.
Daha dar özellikler
Daha geniş özellikler
Bilgilerin kaynağı
- Human Phenotype Ontology, 2026-09-01 sürümü: özellik, adları, tanımı ve buna bağlı genler. Ayrıntılar için hpo.jax.org adresine bakın.
- Veri sürümü 2026.10.16-c6eea6bf.
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