Tunnus
Degeneration of cerebrum
Kliiniline nimetus: Cerebral atrophy
Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.
Kokkuvõte
- Kehasüsteem
- Abnormality of the nervous system
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Degeneration of cerebrum, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test413 geeni on seotud tunnusega Degeneration of cerebrum
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Degeneration of cerebrum. Enamikul selle tunnusega inimestest ei ole ühtegi neist haigustest. Selles loendis olev geen ei ütle midagi kellegi enda genoomi kohta.
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| AARS1alanyl-tRNA synthetase 1 | Alati | Esineb 2 haiguses |
| ACER3alkaline ceramidase 3 | Alati | Esineb 1 haiguses |
| ADAM22ADAM metallopeptidase domain 22 | Alati | Esineb 1 haiguses |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Alati | Esineb 1 haiguses |
| AHDC1AT-hook DNA binding motif containing 1 | Alati | Esineb 1 haiguses |
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Alati | Esineb 1 haiguses |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Alati | Esineb 1 haiguses |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Alati | Esineb 2 haiguses |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Alati | Esineb 1 haiguses |
| ATP11AATPase phospholipid transporting 11A | Alati | Esineb 1 haiguses |
| ATP6AP2ATPase H+ transporting accessory protein 2 | Alati | Esineb 1 haiguses |
| BORCS8BLOC-1 related complex subunit 8 | Alati | Esineb 1 haiguses |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Alati | Esineb 1 haiguses |
| CCDC47coiled-coil domain containing 47 | Alati | Esineb 1 haiguses |
| COG1component of oligomeric golgi complex 1 | Alati | Esineb 1 haiguses |
| COG7component of oligomeric golgi complex 7 | Alati | Esineb 1 haiguses |
| COL18A1collagen type XVIII alpha 1 chain | Alati | Esineb 1 haiguses |
| COQ9coenzyme Q9 | Alati | Esineb 1 haiguses |
| COX4I1cytochrome c oxidase subunit 4I1 | Alati | Esineb 1 haiguses |
| CST3cystatin C | Alati | Esineb 1 haiguses |
| CTSDcathepsin D | Alati | Esineb 1 haiguses |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Alati | Esineb 1 haiguses |
| DNAJC3DnaJ heat shock protein family (Hsp40) member C3 | Alati | Esineb 2 haiguses |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Alati | Esineb 2 haiguses |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Alati | Esineb 1 haiguses |
| EPRS1glutamyl-prolyl-tRNA synthetase 1 | Alati | Esineb 1 haiguses |
| EXOSC1exosome component 1 | Alati | Esineb 1 haiguses |
| FADDFas associated via death domain | Alati | Esineb 2 haiguses |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Alati | Esineb 1 haiguses |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Alati | Esineb 1 haiguses |
| GBA2glucosylceramidase beta 2 | Alati | Esineb 3 haiguses |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Alati | Esineb 1 haiguses |
| HTThuntingtin | Alati | Esineb 2 haiguses |
| IBA57iron-sulfur cluster assembly factor IBA57 | Alati | Esineb 2 haiguses |
| IFIH1interferon induced with helicase C domain 1 | Alati | Esineb 1 haiguses |
| INTS11integrator complex subunit 11 | Alati | Esineb 1 haiguses |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Alati | Esineb 1 haiguses |
| KCTD7potassium channel tetramerization domain containing 7 | Alati | Esineb 2 haiguses |
| KRASKRas proto-oncogene, GTPase | Alati | Esineb 2 haiguses |
| LSM11LSM11, U7 small nuclear RNA associated | Alati | Esineb 1 haiguses |
Näita veel 373 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| MAP2K1mitogen-activated protein kinase kinase 1 | Alati | Esineb 1 haiguses |
| MAP2K2mitogen-activated protein kinase kinase 2 | Alati | Esineb 1 haiguses |
| MAPTmicrotubule associated protein tau | Alati | Esineb 1 haiguses |
| MMADHCmetabolism of cobalamin associated D | Alati | Esineb 1 haiguses |
| MRM2mitochondrial rRNA methyltransferase 2 | Alati | Esineb 1 haiguses |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Alati | Esineb 2 haiguses |
| NADK2NAD kinase 2, mitochondrial | Alati | Esineb 1 haiguses |
| NDUFA2NADH:ubiquinone oxidoreductase subunit A2 | Alati | Esineb 1 haiguses |
| NDUFA8NADH:ubiquinone oxidoreductase subunit A8 | Alati | Esineb 1 haiguses |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Alati | Esineb 1 haiguses |
| NEUROD2neuronal differentiation 2 | Alati | Esineb 1 haiguses |
| NOTCH3notch receptor 3 | Alati | Esineb 1 haiguses |
| PCLOpiccolo presynaptic cytomatrix protein | Alati | Esineb 1 haiguses |
| PCYT2phosphate cytidylyltransferase 2, ethanolamine | Alati | Esineb 1 haiguses |
| PEX19peroxisomal biogenesis factor 19 | Alati | Esineb 1 haiguses |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Alati | Esineb 1 haiguses |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Alati | Esineb 3 haiguses |
| PIGSphosphatidylinositol glycan anchor biosynthesis class S | Alati | Esineb 1 haiguses |
| PLA2G6phospholipase A2 group VI | Alati | Esineb 2 haiguses |
| POLGDNA polymerase gamma, catalytic subunit | Alati | Esineb 2 haiguses |
| POLR1ARNA polymerase I subunit A | Alati | Esineb 1 haiguses |
| PSPHphosphoserine phosphatase | Alati | Esineb 1 haiguses |
| PTCD3pentatricopeptide repeat domain 3 | Alati | Esineb 1 haiguses |
| RNU4-2RNA, U4 small nuclear 2 | Alati | Esineb 1 haiguses |
| SLC31A1solute carrier family 31 member 1 | Alati | Esineb 1 haiguses |
| SLC33A1solute carrier family 33 member 1 | Alati | Esineb 1 haiguses |
| SLC5A6solute carrier family 5 member 6 | Alati | Esineb 1 haiguses |
| SLC9A6solute carrier family 9 member A6 | Alati | Esineb 1 haiguses |
| SPG21SPG21 abhydrolase domain containing, maspardin | Alati | Esineb 1 haiguses |
| SPOUT1SPOUT domain containing methyltransferase 1 | Alati | Esineb 1 haiguses |
| SUOXsulfite oxidase | Alati | Esineb 1 haiguses |
| TARS2threonyl-tRNA synthetase 2, mitochondrial | Alati | Esineb 1 haiguses |
| TBC1D24TBC1 domain family member 24 | Alati | Esineb 3 haiguses |
| TECPR2tectonin beta-propeller repeat containing 2 | Alati | Esineb 2 haiguses |
| TGFB1transforming growth factor beta 1 | Alati | Esineb 1 haiguses |
| TTC5tetratricopeptide repeat domain 5 | Alati | Esineb 1 haiguses |
| UBTFupstream binding transcription factor | Alati | Esineb 2 haiguses |
| UCHL1ubiquitin C-terminal hydrolase L1 | Alati | Esineb 1 haiguses |
| VARS1valyl-tRNA synthetase 1 | Alati | Esineb 1 haiguses |
| VPS53VPS53 subunit of GARP complex | Alati | Esineb 1 haiguses |
| WDR45WD repeat domain 45 | Alati | Esineb 2 haiguses |
| ADSLadenylosuccinate lyase | Väga sageli (80–99%) | Esineb 1 haiguses |
| GM2Aganglioside GM2 activator | Väga sageli (80–99%) | Esineb 2 haiguses |
| GRM7glutamate metabotropic receptor 7 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NGLY1N-glycanase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| STXBP1syntaxin binding protein 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TIMM50translocase of inner mitochondrial membrane 50 | Väga sageli (80–99%) | Esineb 2 haiguses |
| ABAT4-aminobutyrate aminotransferase | Sageli (30–79%) | Esineb 1 haiguses |
| ABCD4ATP binding cassette subfamily D member 4 | Sageli (30–79%) | Esineb 1 haiguses |
| ACTL6Bactin like 6B | Sageli (30–79%) | Esineb 2 haiguses |
| ADKadenosine kinase | Sageli (30–79%) | Esineb 1 haiguses |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Sageli (30–79%) | Esineb 1 haiguses |
| AP1B1adaptor related protein complex 1 subunit beta 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ATG7autophagy related 7 | Sageli (30–79%) | Esineb 1 haiguses |
| ATXN7ataxin 7 | Sageli (30–79%) | Esineb 1 haiguses |
| BCAP31B cell receptor associated protein 31 | Sageli (30–79%) | Esineb 1 haiguses |
| BCAS3BCAS3 microtubule associated cell migration factor | Sageli (30–79%) | Esineb 1 haiguses |
| BORCS5BLOC-1 related complex subunit 5 | Sageli (30–79%) | Esineb 1 haiguses |
| CAPRIN1cell cycle associated protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| CDK19cyclin dependent kinase 19 | Sageli (30–79%) | Esineb 2 haiguses |
| CILK1ciliogenesis associated kinase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| CLN8CLN8 transmembrane ER and ERGIC protein | Sageli (30–79%) | Esineb 3 haiguses |
| CLPBClpB family mitochondrial disaggregase | Sageli (30–79%) | Esineb 2 haiguses |
| COLGALT1collagen beta(1-O)galactosyltransferase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| COQ4coenzyme Q4 | Sageli (30–79%) | Esineb 1 haiguses |
| CPSF3cleavage and polyadenylation specific factor 3 | Sageli (30–79%) | Esineb 1 haiguses |
| CRLS1cardiolipin synthase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| DHX30DExH-box helicase 30 | Sageli (30–79%) | Esineb 1 haiguses |
| DTYMKdeoxythymidylate kinase | Sageli (30–79%) | Esineb 1 haiguses |
| EMC1ER membrane protein complex subunit 1 | Sageli (30–79%) | Esineb 2 haiguses |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Sageli (30–79%) | Esineb 2 haiguses |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Sageli (30–79%) | Esineb 1 haiguses |
| FAR1fatty acyl-CoA reductase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| FASTKD2FASTK mitochondrial RNA regulator 2 | Sageli (30–79%) | Esineb 1 haiguses |
| FBXL4F-box and leucine rich repeat protein 4 | Sageli (30–79%) | Esineb 1 haiguses |
| FBXO28F-box protein 28 | Sageli (30–79%) | Esineb 2 haiguses |
| FDXRferredoxin reductase | Sageli (30–79%) | Esineb 1 haiguses |
| FGFR1fibroblast growth factor receptor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| FHfumarate hydratase | Sageli (30–79%) | Esineb 2 haiguses |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Sageli (30–79%) | Esineb 2 haiguses |
| GNAO1G protein subunit alpha o1 | Sageli (30–79%) | Esineb 2 haiguses |
| GOT2glutamic-oxaloacetic transaminase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Sageli (30–79%) | Esineb 1 haiguses |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Sageli (30–79%) | Esineb 1 haiguses |
| JKAMPJNK1/MAPK8 associated membrane protein | Sageli (30–79%) | Esineb 1 haiguses |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Sageli (30–79%) | Esineb 2 haiguses |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Sageli (30–79%) | Esineb 1 haiguses |
| KIDINS220kinase D interacting substrate 220 | Sageli (30–79%) | Esineb 1 haiguses |
| KIF1Akinesin family member 1A | Sageli (30–79%) | Esineb 1 haiguses |
| LAGE3L antigen family member 3 | Sageli (30–79%) | Esineb 1 haiguses |
| LGI1leucine rich glioma inactivated 1 | Sageli (30–79%) | Esineb 1 haiguses |
| LONP1lon peptidase 1, mitochondrial | Sageli (30–79%) | Esineb 1 haiguses |
| MARS2methionyl-tRNA synthetase 2, mitochondrial | Sageli (30–79%) | Esineb 1 haiguses |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Sageli (30–79%) | Esineb 2 haiguses |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Sageli (30–79%) | Esineb 1 haiguses |
| NANSN-acetylneuraminate synthase | Sageli (30–79%) | Esineb 1 haiguses |
| NAXDNAD(P)HX dehydratase | Sageli (30–79%) | Esineb 2 haiguses |
| NDUFB8NADH:ubiquinone oxidoreductase subunit B8 | Sageli (30–79%) | Esineb 1 haiguses |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| NT5C25'-nucleotidase, cytosolic II | Sageli (30–79%) | Esineb 1 haiguses |
| OSGEPO-sialoglycoprotein endopeptidase | Sageli (30–79%) | Esineb 1 haiguses |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Sageli (30–79%) | Esineb 2 haiguses |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Sageli (30–79%) | Esineb 1 haiguses |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Sageli (30–79%) | Esineb 1 haiguses |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Sageli (30–79%) | Esineb 1 haiguses |
| PITRM1pitrilysin metallopeptidase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PLCB1phospholipase C beta 1 | Sageli (30–79%) | Esineb 1 haiguses |
| POGZpogo transposable element derived with ZNF domain | Sageli (30–79%) | Esineb 1 haiguses |
| PPP2R2Bprotein phosphatase 2 regulatory subunit Bbeta | Sageli (30–79%) | Esineb 1 haiguses |
| PRUNE1prune exopolyphosphatase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PUM1pumilio RNA binding family member 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PUS3pseudouridine synthase 3 | Sageli (30–79%) | Esineb 1 haiguses |
| RARS1arginyl-tRNA synthetase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| RBL2RB transcriptional corepressor like 2 | Sageli (30–79%) | Esineb 1 haiguses |
| RBSNrabenosyn, RAB effector | Sageli (30–79%) | Esineb 1 haiguses |
| RCC1regulator of chromosome condensation 1 | Sageli (30–79%) | Esineb 1 haiguses |
| REPS1RALBP1 associated Eps domain containing 1 | Sageli (30–79%) | Esineb 1 haiguses |
| RFT1RFT1 glycolipid translocator homolog | Sageli (30–79%) | Esineb 2 haiguses |
| RNF216ring finger protein 216 | Sageli (30–79%) | Esineb 1 haiguses |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Sageli (30–79%) | Esineb 3 haiguses |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Sageli (30–79%) | Esineb 1 haiguses |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Sageli (30–79%) | Esineb 2 haiguses |
| SCO2synthesis of cytochrome C oxidase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| SLC12A5solute carrier family 12 member 5 | Sageli (30–79%) | Esineb 2 haiguses |
| SLC19A1solute carrier family 19 member 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SLC1A2solute carrier family 1 member 2 | Sageli (30–79%) | Esineb 2 haiguses |
| SLC25A22solute carrier family 25 member 22 | Sageli (30–79%) | Esineb 2 haiguses |
| SLC35A2solute carrier family 35 member A2 | Sageli (30–79%) | Esineb 2 haiguses |
| SLC35B2solute carrier family 35 member B2 | Sageli (30–79%) | Esineb 1 haiguses |
| SLC35C1solute carrier family 35 member C1 | Sageli (30–79%) | Esineb 1 haiguses |
| SLC39A14solute carrier family 39 member 14 | Sageli (30–79%) | Esineb 2 haiguses |
| SNAPC4small nuclear RNA activating complex polypeptide 4 | Sageli (30–79%) | Esineb 1 haiguses |
| SOX10SRY-box transcription factor 10 | Sageli (30–79%) | Esineb 1 haiguses |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Sageli (30–79%) | Esineb 2 haiguses |
| TANGO2transport and golgi organization 2 homolog | Sageli (30–79%) | Esineb 1 haiguses |
| TDP1tyrosyl-DNA phosphodiesterase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TMX2thioredoxin related transmembrane protein 2 | Sageli (30–79%) | Esineb 1 haiguses |
| TPI1triosephosphate isomerase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TRAPPC11trafficking protein particle complex subunit 11 | Sageli (30–79%) | Esineb 2 haiguses |
| TRAPPC2Ltrafficking protein particle complex subunit 2L | Sageli (30–79%) | Esineb 1 haiguses |
| TRNT1tRNA nucleotidyl transferase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TRPM7transient receptor potential cation channel subfamily M member 7 | Sageli (30–79%) | Esineb 1 haiguses |
| UBA5ubiquitin like modifier activating enzyme 5 | Sageli (30–79%) | Esineb 2 haiguses |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Sageli (30–79%) | Esineb 2 haiguses |
| WDR73WD repeat domain 73 | Sageli (30–79%) | Esineb 1 haiguses |
| WWOXWW domain containing oxidoreductase | Sageli (30–79%) | Esineb 1 haiguses |
| YRDCyrdC N6-threonylcarbamoyltransferase domain containing | Sageli (30–79%) | Esineb 1 haiguses |
| ADNPactivity dependent neuroprotector homeobox | Mõnikord (5–29%) | Esineb 1 haiguses |
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Mõnikord (5–29%) | Esineb 2 haiguses |
| ALG11ALG11 alpha-1,2-mannosyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| APC2APC regulator of Wnt signaling pathway 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATP6V1AATPase H+ transporting V1 subunit A | Mõnikord (5–29%) | Esineb 2 haiguses |
| BOLA3bolA family member 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Mõnikord (5–29%) | Esineb 2 haiguses |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Mõnikord (5–29%) | Esineb 1 haiguses |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Mõnikord (5–29%) | Esineb 2 haiguses |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CARS1cysteinyl-tRNA synthetase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CELF2CUGBP Elav-like family member 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CLTCclathrin heavy chain | Mõnikord (5–29%) | Esineb 1 haiguses |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CNTNAP2contactin associated protein 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| COASYCoenzyme A synthase | Mõnikord (5–29%) | Esineb 1 haiguses |
| COG5component of oligomeric golgi complex 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| COG6component of oligomeric golgi complex 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| DALRD3DALR anticodon binding domain containing 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DDX3XDEAD-box helicase 3 X-linked | Mõnikord (5–29%) | Esineb 1 haiguses |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| DNM1dynamin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DNMT1DNA methyltransferase 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| DOCK6dedicator of cytokinesis 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Mõnikord (5–29%) | Esineb 1 haiguses |
| DPYDdihydropyrimidine dehydrogenase | Mõnikord (5–29%) | Esineb 2 haiguses |
| EPG5ectopic P-granules 5 autophagy tethering factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| FEM1Bfem-1 homolog B | Mõnikord (5–29%) | Esineb 1 haiguses |
| FGF12fibroblast growth factor 12 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| FOXG1forkhead box G1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FZR1fizzy and cell division cycle 20 related 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GAD1glutamate decarboxylase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GCDHglutaryl-CoA dehydrogenase | Mõnikord (5–29%) | Esineb 1 haiguses |
| GRIA2glutamate ionotropic receptor AMPA type subunit 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Mõnikord (5–29%) | Esineb 2 haiguses |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HDAC4histone deacetylase 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HEXBhexosaminidase subunit beta | Mõnikord (5–29%) | Esineb 1 haiguses |
| HNF1BHNF1 homeobox B | Mõnikord (5–29%) | Esineb 1 haiguses |
| IRF2BPLinterferon regulatory factor 2 binding protein like | Mõnikord (5–29%) | Esineb 1 haiguses |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Mõnikord (5–29%) | Esineb 2 haiguses |
| KCNMA1potassium calcium-activated channel subfamily M alpha 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KIF1Ckinesin family member 1C | Mõnikord (5–29%) | Esineb 2 haiguses |
| KIF26Akinesin family member 26A | Mõnikord (5–29%) | Esineb 1 haiguses |
| KIF7kinesin family member 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LHX1LIM homeobox 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LIASlipoic acid synthetase | Mõnikord (5–29%) | Esineb 1 haiguses |
| LYRM7LYR motif containing 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MAFMAF bZIP transcription factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| MECP2methyl-CpG binding protein 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Mõnikord (5–29%) | Esineb 1 haiguses |
| MED25mediator complex subunit 25 | Mõnikord (5–29%) | Esineb 2 haiguses |
| MED27mediator complex subunit 27 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MMACHCmetabolism of cobalamin associated C | Mõnikord (5–29%) | Esineb 1 haiguses |
| MORC2MORC family CW-type zinc finger 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MYT1Lmyelin transcription factor 1 like | Mõnikord (5–29%) | Esineb 1 haiguses |
| NACC1nucleus accumbens associated 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| NALCNsodium leak channel, non-selective | Mõnikord (5–29%) | Esineb 1 haiguses |
| NECAP1NECAP endocytosis associated 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NFIXnuclear factor I X | Mõnikord (5–29%) | Esineb 2 haiguses |
| NKX6-2NK6 homeobox 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NODALnodal growth differentiation factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| NSD1nuclear receptor binding SET domain protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| OFD1OFD1 centriole and centriolar satellite protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| OPLAH5-oxoprolinase, ATP-hydrolysing | Mõnikord (5–29%) | Esineb 1 haiguses |
| PACS2phosphofurin acidic cluster sorting protein 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Mõnikord (5–29%) | Esineb 1 haiguses |
| POLA1DNA polymerase alpha 1, catalytic subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Mõnikord (5–29%) | Esineb 2 haiguses |
| PRKNparkin RBR E3 ubiquitin protein ligase | Mõnikord (5–29%) | Esineb 1 haiguses |
| RALGAPA1Ral GTPase activating protein catalytic subunit alpha 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RFC4replication factor C subunit 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RNU2-2RNA, U2 small nuclear 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RNU7-1RNA, U7 small nuclear 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RRM1ribonucleotide reductase catalytic subunit M1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RTTNrotatin | Mõnikord (5–29%) | Esineb 1 haiguses |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC13A5solute carrier family 13 member 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC2A3solute carrier family 2 member 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC32A1solute carrier family 32 member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC38A3solute carrier family 38 member 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC39A8solute carrier family 39 member 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| STAG1STAG1 cohesin complex component | Mõnikord (5–29%) | Esineb 1 haiguses |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SYNJ1synaptojanin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SYT2synaptotagmin 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SZT2SZT2 subunit of KICSTOR complex | Mõnikord (5–29%) | Esineb 1 haiguses |
| TAF2TATA-box binding protein associated factor 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| TK2thymidine kinase 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| TOP3ADNA topoisomerase III alpha | Mõnikord (5–29%) | Esineb 1 haiguses |
| TP53RKTP53 regulating kinase | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRAF7TNF receptor associated factor 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRAK1trafficking kinesin protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TSEN2tRNA splicing endonuclease subunit 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| UFSP2UFM1 specific peptidase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| UNC13Aunc-13 homolog A | Mõnikord (5–29%) | Esineb 1 haiguses |
| UNC80unc-80 subunit of NALCN channel complex | Mõnikord (5–29%) | Esineb 1 haiguses |
| UPB1beta-ureidopropionase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| VPS4Avacuolar protein sorting 4 homolog A | Mõnikord (5–29%) | Esineb 1 haiguses |
| YIF1BYip1 interacting factor homolog B, membrane trafficking protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZFXzinc finger protein X-linked | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATAD1ATPase family AAA domain containing 1 | Harva (1–4%) | Esineb 1 haiguses |
| CLCN4Cl-/H+ antiporter 4 | Harva (1–4%) | Esineb 1 haiguses |
| CTCFCCCTC-binding factor | Harva (1–4%) | Esineb 1 haiguses |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Harva (1–4%) | Esineb 1 haiguses |
| GLE1GLE1 RNA export mediator | Harva (1–4%) | Esineb 1 haiguses |
| PDHXpyruvate dehydrogenase complex component X | Harva (1–4%) | Esineb 1 haiguses |
| ACY1aminoacylase 1 | Pole registreeritud | Esineb 1 haiguses |
| ADPRSADP-ribosylserine hydrolase | Pole registreeritud | Esineb 1 haiguses |
| AGAaspartylglucosaminidase | Pole registreeritud | Esineb 1 haiguses |
| AIMP2aminoacyl tRNA synthetase complex interacting multifunctional protein 2 | Pole registreeritud | Esineb 1 haiguses |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Pole registreeritud | Esineb 1 haiguses |
| ATN1atrophin 1 | Pole registreeritud | Esineb 1 haiguses |
| ATRXATRX chromatin remodeler | Pole registreeritud | Esineb 1 haiguses |
| AUHAU RNA binding methylglutaconyl-CoA hydratase | Pole registreeritud | Esineb 1 haiguses |
| B3GLCTbeta 3-glucosyltransferase | Pole registreeritud | Esineb 1 haiguses |
| BCS1LBCS1 ubiquinol-cytochrome c reductase complex chaperone | Pole registreeritud | Esineb 1 haiguses |
| C9orf72C9orf72-SMCR8 complex subunit | Pole registreeritud | Esineb 1 haiguses |
| CARS2cysteinyl-tRNA synthetase 2, mitochondrial | Pole registreeritud | Esineb 1 haiguses |
| CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin | Pole registreeritud | Esineb 1 haiguses |
| CLN6CLN6 transmembrane ER protein | Pole registreeritud | Esineb 1 haiguses |
| CNTNAP1contactin associated protein 1 | Pole registreeritud | Esineb 1 haiguses |
| COG4component of oligomeric golgi complex 4 | Pole registreeritud | Esineb 1 haiguses |
| CTDP1CTD phosphatase 1 | Pole registreeritud | Esineb 1 haiguses |
| CTNScystinosin, lysosomal cystine transporter | Pole registreeritud | Esineb 1 haiguses |
| DGUOKdeoxyguanosine kinase | Pole registreeritud | Esineb 1 haiguses |
| DHFRdihydrofolate reductase | Pole registreeritud | Esineb 1 haiguses |
| DMPKDM1 protein kinase | Pole registreeritud | Esineb 1 haiguses |
| DSEdermatan sulfate epimerase | Pole registreeritud | Esineb 1 haiguses |
| DYNC1I2dynein cytoplasmic 1 intermediate chain 2 | Pole registreeritud | Esineb 1 haiguses |
| EIF2AK2eukaryotic translation initiation factor 2 alpha kinase 2 | Pole registreeritud | Esineb 1 haiguses |
| EXOSC3exosome component 3 | Pole registreeritud | Esineb 1 haiguses |
| EXOSC9exosome component 9 | Pole registreeritud | Esineb 1 haiguses |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Pole registreeritud | Esineb 1 haiguses |
| FGF13fibroblast growth factor 13 | Pole registreeritud | Esineb 1 haiguses |
| FRRS1Lferric chelate reductase 1 like | Pole registreeritud | Esineb 1 haiguses |
| FUCA1alpha-L-fucosidase 1 | Pole registreeritud | Esineb 1 haiguses |
| GBA1glucosylceramidase beta 1 | Pole registreeritud | Esineb 1 haiguses |
| GJC2gap junction protein gamma 2 | Pole registreeritud | Esineb 1 haiguses |
| GLB1galactosidase beta 1 | Pole registreeritud | Esineb 1 haiguses |
| HEPACAMhepatic and glial cell adhesion molecule | Pole registreeritud | Esineb 1 haiguses |
| HRASHRas proto-oncogene, GTPase | Pole registreeritud | Esineb 1 haiguses |
| HTRA2HtrA serine peptidase 2 | Pole registreeritud | Esineb 1 haiguses |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Pole registreeritud | Esineb 1 haiguses |
| ITPAinosine triphosphatase | Pole registreeritud | Esineb 1 haiguses |
| KANK1KN motif and ankyrin repeat domains 1 | Pole registreeritud | Esineb 1 haiguses |
| KYkyphoscoliosis peptidase | Pole registreeritud | Esineb 1 haiguses |
| MFSD8major facilitator superfamily domain containing 8 | Pole registreeritud | Esineb 1 haiguses |
| MOCS1molybdenum cofactor synthesis 1 | Pole registreeritud | Esineb 1 haiguses |
| MOCS2molybdenum cofactor synthesis 2 | Pole registreeritud | Esineb 1 haiguses |
| MOGSmannosyl-oligosaccharide glucosidase | Pole registreeritud | Esineb 1 haiguses |
| MPDU1mannose-P-dolichol utilization defect 1 | Pole registreeritud | Esineb 1 haiguses |
| MTR5-methyltetrahydrofolate-homocysteine methyltransferase | Pole registreeritud | Esineb 1 haiguses |
| MTRR5-methyltetrahydrofolate-homocysteine methyltransferase reductase | Pole registreeritud | Esineb 1 haiguses |
| MVKmevalonate kinase | Pole registreeritud | Esineb 1 haiguses |
| NAGAalpha-N-acetylgalactosaminidase | Pole registreeritud | Esineb 1 haiguses |
| NRROSnegative regulator of reactive oxygen species | Pole registreeritud | Esineb 1 haiguses |
| NUP214nucleoporin 214 | Pole registreeritud | Esineb 1 haiguses |
| NUTM2B-AS1NUTM2B antisense RNA 1 | Pole registreeritud | Esineb 1 haiguses |
| PCCApropionyl-CoA carboxylase subunit alpha | Pole registreeritud | Esineb 1 haiguses |
| PCCBpropionyl-CoA carboxylase subunit beta | Pole registreeritud | Esineb 1 haiguses |
| PCK1phosphoenolpyruvate carboxykinase 1 | Pole registreeritud | Esineb 1 haiguses |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Pole registreeritud | Esineb 1 haiguses |
| PLK4polo like kinase 4 | Pole registreeritud | Esineb 1 haiguses |
| PPT1palmitoyl-protein thioesterase 1 | Pole registreeritud | Esineb 1 haiguses |
| PQBP1polyglutamine binding protein 1 | Pole registreeritud | Esineb 1 haiguses |
| PUF60poly(U) binding splicing factor 60 | Pole registreeritud | Esineb 1 haiguses |
| PYCR2pyrroline-5-carboxylate reductase 2 | Pole registreeritud | Esineb 1 haiguses |
| QARS1glutaminyl-tRNA synthetase 1 | Pole registreeritud | Esineb 1 haiguses |
| RAB23RAB23, member RAS oncogene family | Pole registreeritud | Esineb 1 haiguses |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Pole registreeritud | Esineb 1 haiguses |
| RARS2arginyl-tRNA synthetase 2, mitochondrial | Pole registreeritud | Esineb 1 haiguses |
| RNASEH2Aribonuclease H2 subunit A | Pole registreeritud | Esineb 1 haiguses |
| RNASEH2Bribonuclease H2 subunit B | Pole registreeritud | Esineb 1 haiguses |
| ROGDIrogdi atypical leucine zipper | Pole registreeritud | Esineb 1 haiguses |
| SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | Pole registreeritud | Esineb 1 haiguses |
| SERPINI1serpin family I member 1 | Pole registreeritud | Esineb 1 haiguses |
| SETBP1SET binding protein 1 | Pole registreeritud | Esineb 1 haiguses |
| SLC17A5solute carrier family 17 member 5 | Pole registreeritud | Esineb 1 haiguses |
| SLC1A4solute carrier family 1 member 4 | Pole registreeritud | Esineb 1 haiguses |
| SLC2A1solute carrier family 2 member 1 | Pole registreeritud | Esineb 1 haiguses |
| SMG9SMG9 nonsense mediated mRNA decay factor | Pole registreeritud | Esineb 1 haiguses |
| SNORD118small nucleolar RNA, C/D box 118 | Pole registreeritud | Esineb 1 haiguses |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Pole registreeritud | Esineb 1 haiguses |
| STAMBPSTAM binding protein | Pole registreeritud | Esineb 1 haiguses |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Pole registreeritud | Esineb 1 haiguses |
| SUMF1sulfatase modifying factor 1 | Pole registreeritud | Esineb 1 haiguses |
| TBCKTBC1 domain containing kinase | Pole registreeritud | Esineb 1 haiguses |
| TCTN3tectonic family member 3 | Pole registreeritud | Esineb 1 haiguses |
| TOE1target of EGR1, exonuclease | Pole registreeritud | Esineb 1 haiguses |
| TPP1tripeptidyl peptidase 1 | Pole registreeritud | Esineb 1 haiguses |
| TREM2triggering receptor expressed on myeloid cells 2 | Pole registreeritud | Esineb 1 haiguses |
| TREX1three prime repair exonuclease 1 | Pole registreeritud | Esineb 1 haiguses |
| TRIT1tRNA isopentenyltransferase 1 | Pole registreeritud | Esineb 1 haiguses |
| TTC19tetratricopeptide repeat domain 19 | Pole registreeritud | Esineb 1 haiguses |
| TUBGCP6tubulin gamma complex component 6 | Pole registreeritud | Esineb 1 haiguses |
| TWNKtwinkle mtDNA helicase | Pole registreeritud | Esineb 1 haiguses |
| TYROBPtransmembrane immune signaling adaptor TYROBP | Pole registreeritud | Esineb 1 haiguses |
| UFM1ubiquitin fold modifier 1 | Pole registreeritud | Esineb 1 haiguses |
| WFS1wolframin ER transmembrane glycoprotein | Pole registreeritud | Esineb 1 haiguses |
| WIPI2WD repeat domain, phosphoinositide interacting 2 | Pole registreeritud | Esineb 1 haiguses |
| WNK3WNK lysine deficient protein kinase 3 | Pole registreeritud | Esineb 1 haiguses |
| ZC4H2zinc finger C4H2-type containing | Pole registreeritud | Esineb 1 haiguses |
| ZMIZ1zinc finger MIZ-type containing 1 | Pole registreeritud | Esineb 1 haiguses |
| ZNF335zinc finger protein 335 | Pole registreeritud | Esineb 1 haiguses |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Kitsamad tunnused
Laiemad tunnused
Allikas
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: tunnus, selle nimetused, määratlus ja sellega seotud geenid. Lisateave leiab aadressilt hpo.jax.org.
- Andmeversioon 2026.10.16-c6eea6bf.
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast