Kimlere Yardımcı OluyoruzBilimimizÜrünlerSonuçlar
Giriş YapSorBaşlayın$449'den başlayan
Özellik
Degeneration of cerebrum
Klinik adı: Cerebral atrophy
Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.
Özet
- Vücut sistemi
- Abnormality of the nervous system
Degeneration of cerebrumHP:0002059
Kimlere Yardımcı OluyoruzBilimimizÜrünlerSonuçlar
Giriş YapSorBaşlayın$449'den başlayan
Read the genes linked to Degeneration of cerebrum, and the rest of your genome, with one test.
$449'den başlayanÜcretsiz kargo · Sonuçlar 6–8 hafta içinde
Genome Test'imi alDegeneration of cerebrum ile ilişkili 413 gen
Bu genlerdeki değişiklikler, Degeneration of cerebrum 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 |
|---|---|---|
| AARS1alanyl-tRNA synthetase 1 | Her zaman | 2 durumda |
| ACER3alkaline ceramidase 3 | Her zaman | 1 durumda |
| ADAM22ADAM metallopeptidase domain 22 | Her zaman | 1 durumda |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Her zaman | 1 durumda |
| AHDC1AT-hook DNA binding motif containing 1 | Her zaman | 1 durumda |
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Her zaman | 1 durumda |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Her zaman | 1 durumda |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Her zaman | 2 durumda |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Her zaman | 1 durumda |
| ATP11AATPase phospholipid transporting 11A | Her zaman | 1 durumda |
| ATP6AP2ATPase H+ transporting accessory protein 2 | Her zaman | 1 durumda |
| BORCS8BLOC-1 related complex subunit 8 | Her zaman | 1 durumda |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Her zaman | 1 durumda |
| CCDC47coiled-coil domain containing 47 | Her zaman | 1 durumda |
| COG1component of oligomeric golgi complex 1 | Her zaman | 1 durumda |
| COG7component of oligomeric golgi complex 7 | Her zaman | 1 durumda |
| COL18A1collagen type XVIII alpha 1 chain | Her zaman | 1 durumda |
| COQ9coenzyme Q9 | Her zaman | 1 durumda |
| COX4I1cytochrome c oxidase subunit 4I1 | Her zaman | 1 durumda |
| CST3cystatin C | Her zaman | 1 durumda |
| CTSDcathepsin D | Her zaman | 1 durumda |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Her zaman | 1 durumda |
| DNAJC3DnaJ heat shock protein family (Hsp40) member C3 | Her zaman | 2 durumda |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Her zaman | 2 durumda |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Her zaman | 1 durumda |
| EPRS1glutamyl-prolyl-tRNA synthetase 1 | Her zaman | 1 durumda |
| EXOSC1exosome component 1 | Her zaman | 1 durumda |
| FADDFas associated via death domain | Her zaman | 2 durumda |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Her zaman | 1 durumda |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Her zaman | 1 durumda |
| GBA2glucosylceramidase beta 2 | Her zaman | 3 durumda |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Her zaman | 1 durumda |
| HTThuntingtin | Her zaman | 2 durumda |
| IBA57iron-sulfur cluster assembly factor IBA57 | Her zaman | 2 durumda |
| IFIH1interferon induced with helicase C domain 1 | Her zaman | 1 durumda |
| INTS11integrator complex subunit 11 | Her zaman | 1 durumda |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Her zaman | 1 durumda |
| KCTD7potassium channel tetramerization domain containing 7 | Her zaman | 2 durumda |
| KRASKRas proto-oncogene, GTPase | Her zaman | 2 durumda |
| LSM11LSM11, U7 small nuclear RNA associated | Her zaman | 1 durumda |
373 gen daha göster
| Gen | Ne sıklıkla görüldüğü | Durumlar |
|---|---|---|
| MAP2K1mitogen-activated protein kinase kinase 1 | Her zaman | 1 durumda |
| MAP2K2mitogen-activated protein kinase kinase 2 | Her zaman | 1 durumda |
| MAPTmicrotubule associated protein tau | Her zaman | 1 durumda |
| MMADHCmetabolism of cobalamin associated D | Her zaman | 1 durumda |
| MRM2mitochondrial rRNA methyltransferase 2 | Her zaman | 1 durumda |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Her zaman | 2 durumda |
| NADK2NAD kinase 2, mitochondrial | Her zaman | 1 durumda |
| NDUFA2NADH:ubiquinone oxidoreductase subunit A2 | Her zaman | 1 durumda |
| NDUFA8NADH:ubiquinone oxidoreductase subunit A8 | Her zaman | 1 durumda |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Her zaman | 1 durumda |
| NEUROD2neuronal differentiation 2 | Her zaman | 1 durumda |
| NOTCH3notch receptor 3 | Her zaman | 1 durumda |
| PCLOpiccolo presynaptic cytomatrix protein | Her zaman | 1 durumda |
| PCYT2phosphate cytidylyltransferase 2, ethanolamine | Her zaman | 1 durumda |
| PEX19peroxisomal biogenesis factor 19 | Her zaman | 1 durumda |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Her zaman | 1 durumda |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Her zaman | 3 durumda |
| PIGSphosphatidylinositol glycan anchor biosynthesis class S | Her zaman | 1 durumda |
| PLA2G6phospholipase A2 group VI | Her zaman | 2 durumda |
| POLGDNA polymerase gamma, catalytic subunit | Her zaman | 2 durumda |
| POLR1ARNA polymerase I subunit A | Her zaman | 1 durumda |
| PSPHphosphoserine phosphatase | Her zaman | 1 durumda |
| PTCD3pentatricopeptide repeat domain 3 | Her zaman | 1 durumda |
| RNU4-2RNA, U4 small nuclear 2 | Her zaman | 1 durumda |
| SLC31A1solute carrier family 31 member 1 | Her zaman | 1 durumda |
| SLC33A1solute carrier family 33 member 1 | Her zaman | 1 durumda |
| SLC5A6solute carrier family 5 member 6 | Her zaman | 1 durumda |
| SLC9A6solute carrier family 9 member A6 | Her zaman | 1 durumda |
| SPG21SPG21 abhydrolase domain containing, maspardin | Her zaman | 1 durumda |
| SPOUT1SPOUT domain containing methyltransferase 1 | Her zaman | 1 durumda |
| SUOXsulfite oxidase | Her zaman | 1 durumda |
| TARS2threonyl-tRNA synthetase 2, mitochondrial | Her zaman | 1 durumda |
| TBC1D24TBC1 domain family member 24 | Her zaman | 3 durumda |
| TECPR2tectonin beta-propeller repeat containing 2 | Her zaman | 2 durumda |
| TGFB1transforming growth factor beta 1 | Her zaman | 1 durumda |
| TTC5tetratricopeptide repeat domain 5 | Her zaman | 1 durumda |
| UBTFupstream binding transcription factor | Her zaman | 2 durumda |
| UCHL1ubiquitin C-terminal hydrolase L1 | Her zaman | 1 durumda |
| VARS1valyl-tRNA synthetase 1 | Her zaman | 1 durumda |
| VPS53VPS53 subunit of GARP complex | Her zaman | 1 durumda |
| WDR45WD repeat domain 45 | Her zaman | 2 durumda |
| ADSLadenylosuccinate lyase | Çok sık (%80–99) | 1 durumda |
| GM2Aganglioside GM2 activator | Çok sık (%80–99) | 2 durumda |
| GRM7glutamate metabotropic receptor 7 | Çok sık (%80–99) | 1 durumda |
| NGLY1N-glycanase 1 | Çok sık (%80–99) | 1 durumda |
| STXBP1syntaxin binding protein 1 | Çok sık (%80–99) | 1 durumda |
| TIMM50translocase of inner mitochondrial membrane 50 | Çok sık (%80–99) | 2 durumda |
| ABAT4-aminobutyrate aminotransferase | Sık (%30–79) | 1 durumda |
| ABCD4ATP binding cassette subfamily D member 4 | Sık (%30–79) | 1 durumda |
| ACTL6Bactin like 6B | Sık (%30–79) | 2 durumda |
| ADKadenosine kinase | Sık (%30–79) | 1 durumda |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Sık (%30–79) | 1 durumda |
| AP1B1adaptor related protein complex 1 subunit beta 1 | Sık (%30–79) | 1 durumda |
| ATG7autophagy related 7 | Sık (%30–79) | 1 durumda |
| ATXN7ataxin 7 | Sık (%30–79) | 1 durumda |
| BCAP31B cell receptor associated protein 31 | Sık (%30–79) | 1 durumda |
| BCAS3BCAS3 microtubule associated cell migration factor | Sık (%30–79) | 1 durumda |
| BORCS5BLOC-1 related complex subunit 5 | Sık (%30–79) | 1 durumda |
| CAPRIN1cell cycle associated protein 1 | Sık (%30–79) | 1 durumda |
| CDK19cyclin dependent kinase 19 | Sık (%30–79) | 2 durumda |
| CILK1ciliogenesis associated kinase 1 | Sık (%30–79) | 1 durumda |
| CLN8CLN8 transmembrane ER and ERGIC protein | Sık (%30–79) | 3 durumda |
| CLPBClpB family mitochondrial disaggregase | Sık (%30–79) | 2 durumda |
| COLGALT1collagen beta(1-O)galactosyltransferase 1 | Sık (%30–79) | 1 durumda |
| COQ4coenzyme Q4 | Sık (%30–79) | 1 durumda |
| CPSF3cleavage and polyadenylation specific factor 3 | Sık (%30–79) | 1 durumda |
| CRLS1cardiolipin synthase 1 | Sık (%30–79) | 1 durumda |
| DHX30DExH-box helicase 30 | Sık (%30–79) | 1 durumda |
| DTYMKdeoxythymidylate kinase | Sık (%30–79) | 1 durumda |
| EMC1ER membrane protein complex subunit 1 | Sık (%30–79) | 2 durumda |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Sık (%30–79) | 2 durumda |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Sık (%30–79) | 1 durumda |
| FAR1fatty acyl-CoA reductase 1 | Sık (%30–79) | 1 durumda |
| FASTKD2FASTK mitochondrial RNA regulator 2 | Sık (%30–79) | 1 durumda |
| FBXL4F-box and leucine rich repeat protein 4 | Sık (%30–79) | 1 durumda |
| FBXO28F-box protein 28 | Sık (%30–79) | 2 durumda |
| FDXRferredoxin reductase | Sık (%30–79) | 1 durumda |
| FGFR1fibroblast growth factor receptor 1 | Sık (%30–79) | 1 durumda |
| FHfumarate hydratase | Sık (%30–79) | 2 durumda |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Sık (%30–79) | 2 durumda |
| GNAO1G protein subunit alpha o1 | Sık (%30–79) | 2 durumda |
| GOT2glutamic-oxaloacetic transaminase 2 | Sık (%30–79) | 1 durumda |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Sık (%30–79) | 1 durumda |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Sık (%30–79) | 1 durumda |
| JKAMPJNK1/MAPK8 associated membrane protein | Sık (%30–79) | 1 durumda |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Sık (%30–79) | 2 durumda |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Sık (%30–79) | 1 durumda |
| KIDINS220kinase D interacting substrate 220 | Sık (%30–79) | 1 durumda |
| KIF1Akinesin family member 1A | Sık (%30–79) | 1 durumda |
| LAGE3L antigen family member 3 | Sık (%30–79) | 1 durumda |
| LGI1leucine rich glioma inactivated 1 | Sık (%30–79) | 1 durumda |
| LONP1lon peptidase 1, mitochondrial | Sık (%30–79) | 1 durumda |
| MARS2methionyl-tRNA synthetase 2, mitochondrial | Sık (%30–79) | 1 durumda |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Sık (%30–79) | 2 durumda |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Sık (%30–79) | 1 durumda |
| NANSN-acetylneuraminate synthase | Sık (%30–79) | 1 durumda |
| NAXDNAD(P)HX dehydratase | Sık (%30–79) | 2 durumda |
| NDUFB8NADH:ubiquinone oxidoreductase subunit B8 | Sık (%30–79) | 1 durumda |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Sık (%30–79) | 1 durumda |
| NT5C25'-nucleotidase, cytosolic II | Sık (%30–79) | 1 durumda |
| OSGEPO-sialoglycoprotein endopeptidase | Sık (%30–79) | 1 durumda |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Sık (%30–79) | 1 durumda |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Sık (%30–79) | 2 durumda |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Sık (%30–79) | 1 durumda |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Sık (%30–79) | 1 durumda |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Sık (%30–79) | 1 durumda |
| PITRM1pitrilysin metallopeptidase 1 | Sık (%30–79) | 1 durumda |
| PLCB1phospholipase C beta 1 | Sık (%30–79) | 1 durumda |
| POGZpogo transposable element derived with ZNF domain | Sık (%30–79) | 1 durumda |
| PPP2R2Bprotein phosphatase 2 regulatory subunit Bbeta | Sık (%30–79) | 1 durumda |
| PRUNE1prune exopolyphosphatase 1 | Sık (%30–79) | 1 durumda |
| PUM1pumilio RNA binding family member 1 | Sık (%30–79) | 1 durumda |
| PUS3pseudouridine synthase 3 | Sık (%30–79) | 1 durumda |
| RARS1arginyl-tRNA synthetase 1 | Sık (%30–79) | 1 durumda |
| RBL2RB transcriptional corepressor like 2 | Sık (%30–79) | 1 durumda |
| RBSNrabenosyn, RAB effector | Sık (%30–79) | 1 durumda |
| RCC1regulator of chromosome condensation 1 | Sık (%30–79) | 1 durumda |
| REPS1RALBP1 associated Eps domain containing 1 | Sık (%30–79) | 1 durumda |
| RFT1RFT1 glycolipid translocator homolog | Sık (%30–79) | 2 durumda |
| RNF216ring finger protein 216 | Sık (%30–79) | 1 durumda |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Sık (%30–79) | 3 durumda |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Sık (%30–79) | 1 durumda |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Sık (%30–79) | 2 durumda |
| SCO2synthesis of cytochrome C oxidase 2 | Sık (%30–79) | 1 durumda |
| SLC12A5solute carrier family 12 member 5 | Sık (%30–79) | 2 durumda |
| SLC19A1solute carrier family 19 member 1 | Sık (%30–79) | 1 durumda |
| SLC1A2solute carrier family 1 member 2 | Sık (%30–79) | 2 durumda |
| SLC25A22solute carrier family 25 member 22 | Sık (%30–79) | 2 durumda |
| SLC35A2solute carrier family 35 member A2 | Sık (%30–79) | 2 durumda |
| SLC35B2solute carrier family 35 member B2 | Sık (%30–79) | 1 durumda |
| SLC35C1solute carrier family 35 member C1 | Sık (%30–79) | 1 durumda |
| SLC39A14solute carrier family 39 member 14 | Sık (%30–79) | 2 durumda |
| SNAPC4small nuclear RNA activating complex polypeptide 4 | Sık (%30–79) | 1 durumda |
| SOX10SRY-box transcription factor 10 | Sık (%30–79) | 1 durumda |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Sık (%30–79) | 2 durumda |
| TANGO2transport and golgi organization 2 homolog | Sık (%30–79) | 1 durumda |
| TDP1tyrosyl-DNA phosphodiesterase 1 | Sık (%30–79) | 1 durumda |
| TMX2thioredoxin related transmembrane protein 2 | Sık (%30–79) | 1 durumda |
| TPI1triosephosphate isomerase 1 | Sık (%30–79) | 1 durumda |
| TRAPPC11trafficking protein particle complex subunit 11 | Sık (%30–79) | 2 durumda |
| TRAPPC2Ltrafficking protein particle complex subunit 2L | Sık (%30–79) | 1 durumda |
| TRNT1tRNA nucleotidyl transferase 1 | Sık (%30–79) | 1 durumda |
| TRPM7transient receptor potential cation channel subfamily M member 7 | Sık (%30–79) | 1 durumda |
| UBA5ubiquitin like modifier activating enzyme 5 | Sık (%30–79) | 2 durumda |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Sık (%30–79) | 2 durumda |
| WDR73WD repeat domain 73 | Sık (%30–79) | 1 durumda |
| WWOXWW domain containing oxidoreductase | Sık (%30–79) | 1 durumda |
| YRDCyrdC N6-threonylcarbamoyltransferase domain containing | Sık (%30–79) | 1 durumda |
| ADNPactivity dependent neuroprotector homeobox | Bazen (%5–29) | 1 durumda |
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Bazen (%5–29) | 2 durumda |
| ALG11ALG11 alpha-1,2-mannosyltransferase | Bazen (%5–29) | 1 durumda |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Bazen (%5–29) | 2 durumda |
| APC2APC regulator of Wnt signaling pathway 2 | Bazen (%5–29) | 1 durumda |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Bazen (%5–29) | 2 durumda |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Bazen (%5–29) | 1 durumda |
| ATP6V1AATPase H+ transporting V1 subunit A | Bazen (%5–29) | 2 durumda |
| BOLA3bolA family member 3 | Bazen (%5–29) | 1 durumda |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Bazen (%5–29) | 2 durumda |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Bazen (%5–29) | 1 durumda |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Bazen (%5–29) | 2 durumda |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Bazen (%5–29) | 1 durumda |
| CARS1cysteinyl-tRNA synthetase 1 | Bazen (%5–29) | 1 durumda |
| CELF2CUGBP Elav-like family member 2 | Bazen (%5–29) | 1 durumda |
| CLTCclathrin heavy chain | Bazen (%5–29) | 1 durumda |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Bazen (%5–29) | 1 durumda |
| CNTNAP2contactin associated protein 2 | Bazen (%5–29) | 1 durumda |
| COASYCoenzyme A synthase | Bazen (%5–29) | 1 durumda |
| COG5component of oligomeric golgi complex 5 | Bazen (%5–29) | 1 durumda |
| COG6component of oligomeric golgi complex 6 | Bazen (%5–29) | 1 durumda |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Bazen (%5–29) | 2 durumda |
| DALRD3DALR anticodon binding domain containing 3 | Bazen (%5–29) | 1 durumda |
| DDX3XDEAD-box helicase 3 X-linked | Bazen (%5–29) | 1 durumda |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Bazen (%5–29) | 1 durumda |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Bazen (%5–29) | 1 durumda |
| DNM1dynamin 1 | Bazen (%5–29) | 1 durumda |
| DNMT1DNA methyltransferase 1 | Bazen (%5–29) | 2 durumda |
| DOCK6dedicator of cytokinesis 6 | Bazen (%5–29) | 1 durumda |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Bazen (%5–29) | 1 durumda |
| DPYDdihydropyrimidine dehydrogenase | Bazen (%5–29) | 2 durumda |
| EPG5ectopic P-granules 5 autophagy tethering factor | Bazen (%5–29) | 1 durumda |
| FEM1Bfem-1 homolog B | Bazen (%5–29) | 1 durumda |
| FGF12fibroblast growth factor 12 | Bazen (%5–29) | 1 durumda |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Bazen (%5–29) | 1 durumda |
| FOXG1forkhead box G1 | Bazen (%5–29) | 1 durumda |
| FZR1fizzy and cell division cycle 20 related 1 | Bazen (%5–29) | 1 durumda |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Bazen (%5–29) | 1 durumda |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Bazen (%5–29) | 1 durumda |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Bazen (%5–29) | 1 durumda |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Bazen (%5–29) | 1 durumda |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Bazen (%5–29) | 1 durumda |
| GAD1glutamate decarboxylase 1 | Bazen (%5–29) | 1 durumda |
| GCDHglutaryl-CoA dehydrogenase | Bazen (%5–29) | 1 durumda |
| GRIA2glutamate ionotropic receptor AMPA type subunit 2 | Bazen (%5–29) | 1 durumda |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Bazen (%5–29) | 2 durumda |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Bazen (%5–29) | 2 durumda |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Bazen (%5–29) | 1 durumda |
| HDAC4histone deacetylase 4 | Bazen (%5–29) | 1 durumda |
| HEXBhexosaminidase subunit beta | Bazen (%5–29) | 1 durumda |
| HNF1BHNF1 homeobox B | Bazen (%5–29) | 1 durumda |
| IRF2BPLinterferon regulatory factor 2 binding protein like | Bazen (%5–29) | 1 durumda |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Bazen (%5–29) | 1 durumda |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Bazen (%5–29) | 1 durumda |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Bazen (%5–29) | 1 durumda |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Bazen (%5–29) | 2 durumda |
| KCNMA1potassium calcium-activated channel subfamily M alpha 1 | Bazen (%5–29) | 1 durumda |
| KIF1Ckinesin family member 1C | Bazen (%5–29) | 2 durumda |
| KIF26Akinesin family member 26A | Bazen (%5–29) | 1 durumda |
| KIF7kinesin family member 7 | Bazen (%5–29) | 1 durumda |
| LHX1LIM homeobox 1 | Bazen (%5–29) | 1 durumda |
| LIASlipoic acid synthetase | Bazen (%5–29) | 1 durumda |
| LYRM7LYR motif containing 7 | Bazen (%5–29) | 1 durumda |
| MAFMAF bZIP transcription factor | Bazen (%5–29) | 1 durumda |
| MECP2methyl-CpG binding protein 2 | Bazen (%5–29) | 1 durumda |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Bazen (%5–29) | 1 durumda |
| MED25mediator complex subunit 25 | Bazen (%5–29) | 2 durumda |
| MED27mediator complex subunit 27 | Bazen (%5–29) | 1 durumda |
| MMACHCmetabolism of cobalamin associated C | Bazen (%5–29) | 1 durumda |
| MORC2MORC family CW-type zinc finger 2 | Bazen (%5–29) | 1 durumda |
| MYT1Lmyelin transcription factor 1 like | Bazen (%5–29) | 1 durumda |
| NACC1nucleus accumbens associated 1 | Bazen (%5–29) | 2 durumda |
| NALCNsodium leak channel, non-selective | Bazen (%5–29) | 1 durumda |
| NECAP1NECAP endocytosis associated 1 | Bazen (%5–29) | 1 durumda |
| NFIXnuclear factor I X | Bazen (%5–29) | 2 durumda |
| NKX6-2NK6 homeobox 2 | Bazen (%5–29) | 1 durumda |
| NODALnodal growth differentiation factor | Bazen (%5–29) | 1 durumda |
| NSD1nuclear receptor binding SET domain protein 1 | Bazen (%5–29) | 1 durumda |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Bazen (%5–29) | 1 durumda |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Bazen (%5–29) | 1 durumda |
| OFD1OFD1 centriole and centriolar satellite protein | Bazen (%5–29) | 1 durumda |
| OPLAH5-oxoprolinase, ATP-hydrolysing | Bazen (%5–29) | 1 durumda |
| PACS2phosphofurin acidic cluster sorting protein 2 | Bazen (%5–29) | 1 durumda |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Bazen (%5–29) | 1 durumda |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Bazen (%5–29) | 1 durumda |
| POLA1DNA polymerase alpha 1, catalytic subunit | Bazen (%5–29) | 1 durumda |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Bazen (%5–29) | 2 durumda |
| PRKNparkin RBR E3 ubiquitin protein ligase | Bazen (%5–29) | 1 durumda |
| RALGAPA1Ral GTPase activating protein catalytic subunit alpha 1 | Bazen (%5–29) | 1 durumda |
| RFC4replication factor C subunit 4 | Bazen (%5–29) | 1 durumda |
| RNU2-2RNA, U2 small nuclear 2 | Bazen (%5–29) | 1 durumda |
| RNU7-1RNA, U7 small nuclear 1 | Bazen (%5–29) | 1 durumda |
| RRM1ribonucleotide reductase catalytic subunit M1 | Bazen (%5–29) | 1 durumda |
| RTTNrotatin | Bazen (%5–29) | 1 durumda |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Bazen (%5–29) | 1 durumda |
| SLC13A5solute carrier family 13 member 5 | Bazen (%5–29) | 1 durumda |
| SLC2A3solute carrier family 2 member 3 | Bazen (%5–29) | 1 durumda |
| SLC32A1solute carrier family 32 member 1 | Bazen (%5–29) | 1 durumda |
| SLC38A3solute carrier family 38 member 3 | Bazen (%5–29) | 1 durumda |
| SLC39A8solute carrier family 39 member 8 | Bazen (%5–29) | 1 durumda |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Bazen (%5–29) | 1 durumda |
| STAG1STAG1 cohesin complex component | Bazen (%5–29) | 1 durumda |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Bazen (%5–29) | 1 durumda |
| SYNJ1synaptojanin 1 | Bazen (%5–29) | 1 durumda |
| SYT2synaptotagmin 2 | Bazen (%5–29) | 1 durumda |
| SZT2SZT2 subunit of KICSTOR complex | Bazen (%5–29) | 1 durumda |
| TAF2TATA-box binding protein associated factor 2 | Bazen (%5–29) | 2 durumda |
| TK2thymidine kinase 2 | Bazen (%5–29) | 2 durumda |
| TOP3ADNA topoisomerase III alpha | Bazen (%5–29) | 1 durumda |
| TP53RKTP53 regulating kinase | Bazen (%5–29) | 1 durumda |
| TRAF7TNF receptor associated factor 7 | Bazen (%5–29) | 1 durumda |
| TRAK1trafficking kinesin protein 1 | Bazen (%5–29) | 1 durumda |
| TSEN2tRNA splicing endonuclease subunit 2 | Bazen (%5–29) | 1 durumda |
| UFSP2UFM1 specific peptidase 2 | Bazen (%5–29) | 1 durumda |
| UNC13Aunc-13 homolog A | Bazen (%5–29) | 1 durumda |
| UNC80unc-80 subunit of NALCN channel complex | Bazen (%5–29) | 1 durumda |
| UPB1beta-ureidopropionase 1 | Bazen (%5–29) | 1 durumda |
| VPS4Avacuolar protein sorting 4 homolog A | Bazen (%5–29) | 1 durumda |
| YIF1BYip1 interacting factor homolog B, membrane trafficking protein | Bazen (%5–29) | 1 durumda |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Bazen (%5–29) | 1 durumda |
| ZFXzinc finger protein X-linked | Bazen (%5–29) | 1 durumda |
| ATAD1ATPase family AAA domain containing 1 | Seyrek (%1–4) | 1 durumda |
| CLCN4Cl-/H+ antiporter 4 | Seyrek (%1–4) | 1 durumda |
| CTCFCCCTC-binding factor | Seyrek (%1–4) | 1 durumda |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Seyrek (%1–4) | 1 durumda |
| GLE1GLE1 RNA export mediator | Seyrek (%1–4) | 1 durumda |
| PDHXpyruvate dehydrogenase complex component X | Seyrek (%1–4) | 1 durumda |
| ACY1aminoacylase 1 | Kaydedilmedi | 1 durumda |
| ADPRSADP-ribosylserine hydrolase | Kaydedilmedi | 1 durumda |
| AGAaspartylglucosaminidase | Kaydedilmedi | 1 durumda |
| AIMP2aminoacyl tRNA synthetase complex interacting multifunctional protein 2 | Kaydedilmedi | 1 durumda |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Kaydedilmedi | 1 durumda |
| ATN1atrophin 1 | Kaydedilmedi | 1 durumda |
| ATRXATRX chromatin remodeler | Kaydedilmedi | 1 durumda |
| AUHAU RNA binding methylglutaconyl-CoA hydratase | Kaydedilmedi | 1 durumda |
| B3GLCTbeta 3-glucosyltransferase | Kaydedilmedi | 1 durumda |
| BCS1LBCS1 ubiquinol-cytochrome c reductase complex chaperone | Kaydedilmedi | 1 durumda |
| C9orf72C9orf72-SMCR8 complex subunit | Kaydedilmedi | 1 durumda |
| CARS2cysteinyl-tRNA synthetase 2, mitochondrial | Kaydedilmedi | 1 durumda |
| CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin | Kaydedilmedi | 1 durumda |
| CLN6CLN6 transmembrane ER protein | Kaydedilmedi | 1 durumda |
| CNTNAP1contactin associated protein 1 | Kaydedilmedi | 1 durumda |
| COG4component of oligomeric golgi complex 4 | Kaydedilmedi | 1 durumda |
| CTDP1CTD phosphatase 1 | Kaydedilmedi | 1 durumda |
| CTNScystinosin, lysosomal cystine transporter | Kaydedilmedi | 1 durumda |
| DGUOKdeoxyguanosine kinase | Kaydedilmedi | 1 durumda |
| DHFRdihydrofolate reductase | Kaydedilmedi | 1 durumda |
| DMPKDM1 protein kinase | Kaydedilmedi | 1 durumda |
| DSEdermatan sulfate epimerase | Kaydedilmedi | 1 durumda |
| DYNC1I2dynein cytoplasmic 1 intermediate chain 2 | Kaydedilmedi | 1 durumda |
| EIF2AK2eukaryotic translation initiation factor 2 alpha kinase 2 | Kaydedilmedi | 1 durumda |
| EXOSC3exosome component 3 | Kaydedilmedi | 1 durumda |
| EXOSC9exosome component 9 | Kaydedilmedi | 1 durumda |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Kaydedilmedi | 1 durumda |
| FGF13fibroblast growth factor 13 | Kaydedilmedi | 1 durumda |
| FRRS1Lferric chelate reductase 1 like | Kaydedilmedi | 1 durumda |
| FUCA1alpha-L-fucosidase 1 | Kaydedilmedi | 1 durumda |
| GBA1glucosylceramidase beta 1 | Kaydedilmedi | 1 durumda |
| GJC2gap junction protein gamma 2 | Kaydedilmedi | 1 durumda |
| GLB1galactosidase beta 1 | Kaydedilmedi | 1 durumda |
| HEPACAMhepatic and glial cell adhesion molecule | Kaydedilmedi | 1 durumda |
| HRASHRas proto-oncogene, GTPase | Kaydedilmedi | 1 durumda |
| HTRA2HtrA serine peptidase 2 | Kaydedilmedi | 1 durumda |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Kaydedilmedi | 1 durumda |
| ITPAinosine triphosphatase | Kaydedilmedi | 1 durumda |
| KANK1KN motif and ankyrin repeat domains 1 | Kaydedilmedi | 1 durumda |
| KYkyphoscoliosis peptidase | Kaydedilmedi | 1 durumda |
| MFSD8major facilitator superfamily domain containing 8 | Kaydedilmedi | 1 durumda |
| MOCS1molybdenum cofactor synthesis 1 | Kaydedilmedi | 1 durumda |
| MOCS2molybdenum cofactor synthesis 2 | Kaydedilmedi | 1 durumda |
| MOGSmannosyl-oligosaccharide glucosidase | Kaydedilmedi | 1 durumda |
| MPDU1mannose-P-dolichol utilization defect 1 | Kaydedilmedi | 1 durumda |
| MTR5-methyltetrahydrofolate-homocysteine methyltransferase | Kaydedilmedi | 1 durumda |
| MTRR5-methyltetrahydrofolate-homocysteine methyltransferase reductase | Kaydedilmedi | 1 durumda |
| MVKmevalonate kinase | Kaydedilmedi | 1 durumda |
| NAGAalpha-N-acetylgalactosaminidase | Kaydedilmedi | 1 durumda |
| NRROSnegative regulator of reactive oxygen species | Kaydedilmedi | 1 durumda |
| NUP214nucleoporin 214 | Kaydedilmedi | 1 durumda |
| NUTM2B-AS1NUTM2B antisense RNA 1 | Kaydedilmedi | 1 durumda |
| PCCApropionyl-CoA carboxylase subunit alpha | Kaydedilmedi | 1 durumda |
| PCCBpropionyl-CoA carboxylase subunit beta | Kaydedilmedi | 1 durumda |
| PCK1phosphoenolpyruvate carboxykinase 1 | Kaydedilmedi | 1 durumda |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Kaydedilmedi | 1 durumda |
| PLK4polo like kinase 4 | Kaydedilmedi | 1 durumda |
| PPT1palmitoyl-protein thioesterase 1 | Kaydedilmedi | 1 durumda |
| PQBP1polyglutamine binding protein 1 | Kaydedilmedi | 1 durumda |
| PUF60poly(U) binding splicing factor 60 | Kaydedilmedi | 1 durumda |
| PYCR2pyrroline-5-carboxylate reductase 2 | Kaydedilmedi | 1 durumda |
| QARS1glutaminyl-tRNA synthetase 1 | Kaydedilmedi | 1 durumda |
| RAB23RAB23, member RAS oncogene family | Kaydedilmedi | 1 durumda |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Kaydedilmedi | 1 durumda |
| RARS2arginyl-tRNA synthetase 2, mitochondrial | Kaydedilmedi | 1 durumda |
| RNASEH2Aribonuclease H2 subunit A | Kaydedilmedi | 1 durumda |
| RNASEH2Bribonuclease H2 subunit B | Kaydedilmedi | 1 durumda |
| ROGDIrogdi atypical leucine zipper | Kaydedilmedi | 1 durumda |
| SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | Kaydedilmedi | 1 durumda |
| SERPINI1serpin family I member 1 | Kaydedilmedi | 1 durumda |
| SETBP1SET binding protein 1 | Kaydedilmedi | 1 durumda |
| SLC17A5solute carrier family 17 member 5 | Kaydedilmedi | 1 durumda |
| SLC1A4solute carrier family 1 member 4 | Kaydedilmedi | 1 durumda |
| SLC2A1solute carrier family 2 member 1 | Kaydedilmedi | 1 durumda |
| SMG9SMG9 nonsense mediated mRNA decay factor | Kaydedilmedi | 1 durumda |
| SNORD118small nucleolar RNA, C/D box 118 | Kaydedilmedi | 1 durumda |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Kaydedilmedi | 1 durumda |
| STAMBPSTAM binding protein | Kaydedilmedi | 1 durumda |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Kaydedilmedi | 1 durumda |
| SUMF1sulfatase modifying factor 1 | Kaydedilmedi | 1 durumda |
| TBCKTBC1 domain containing kinase | Kaydedilmedi | 1 durumda |
| TCTN3tectonic family member 3 | Kaydedilmedi | 1 durumda |
| TOE1target of EGR1, exonuclease | Kaydedilmedi | 1 durumda |
| TPP1tripeptidyl peptidase 1 | Kaydedilmedi | 1 durumda |
| TREM2triggering receptor expressed on myeloid cells 2 | Kaydedilmedi | 1 durumda |
| TREX1three prime repair exonuclease 1 | Kaydedilmedi | 1 durumda |
| TRIT1tRNA isopentenyltransferase 1 | Kaydedilmedi | 1 durumda |
| TTC19tetratricopeptide repeat domain 19 | Kaydedilmedi | 1 durumda |
| TUBGCP6tubulin gamma complex component 6 | Kaydedilmedi | 1 durumda |
| TWNKtwinkle mtDNA helicase | Kaydedilmedi | 1 durumda |
| TYROBPtransmembrane immune signaling adaptor TYROBP | Kaydedilmedi | 1 durumda |
| UFM1ubiquitin fold modifier 1 | Kaydedilmedi | 1 durumda |
| WFS1wolframin ER transmembrane glycoprotein | Kaydedilmedi | 1 durumda |
| WIPI2WD repeat domain, phosphoinositide interacting 2 | Kaydedilmedi | 1 durumda |
| WNK3WNK lysine deficient protein kinase 3 | Kaydedilmedi | 1 durumda |
| ZC4H2zinc finger C4H2-type containing | Kaydedilmedi | 1 durumda |
| ZMIZ1zinc finger MIZ-type containing 1 | Kaydedilmedi | 1 durumda |
| ZNF335zinc finger protein 335 | 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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