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Egenskap
Degeneration of cerebrum
Klinisk navn: Cerebral atrophy
Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.
Sammendrag
- Kroppssystem
- Abnormality of the nervous system
Degeneration of cerebrumHP:0002059
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Read the genes linked to Degeneration of cerebrum, and the rest of your genome, with one test.
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Få mitt Genome Test413 gener knyttet til Degeneration of cerebrum
Endringer i disse genene forårsaker sjeldne tilstander der Degeneration of cerebrum forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| AARS1alanyl-tRNA synthetase 1 | Alltid | I 2 tilstander |
| ACER3alkaline ceramidase 3 | Alltid | I 1 tilstand |
| ADAM22ADAM metallopeptidase domain 22 | Alltid | I 1 tilstand |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Alltid | I 1 tilstand |
| AHDC1AT-hook DNA binding motif containing 1 | Alltid | I 1 tilstand |
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Alltid | I 1 tilstand |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Alltid | I 1 tilstand |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Alltid | I 2 tilstander |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Alltid | I 1 tilstand |
| ATP11AATPase phospholipid transporting 11A | Alltid | I 1 tilstand |
| ATP6AP2ATPase H+ transporting accessory protein 2 | Alltid | I 1 tilstand |
| BORCS8BLOC-1 related complex subunit 8 | Alltid | I 1 tilstand |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Alltid | I 1 tilstand |
| CCDC47coiled-coil domain containing 47 | Alltid | I 1 tilstand |
| COG1component of oligomeric golgi complex 1 | Alltid | I 1 tilstand |
| COG7component of oligomeric golgi complex 7 | Alltid | I 1 tilstand |
| COL18A1collagen type XVIII alpha 1 chain | Alltid | I 1 tilstand |
| COQ9coenzyme Q9 | Alltid | I 1 tilstand |
| COX4I1cytochrome c oxidase subunit 4I1 | Alltid | I 1 tilstand |
| CST3cystatin C | Alltid | I 1 tilstand |
| CTSDcathepsin D | Alltid | I 1 tilstand |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Alltid | I 1 tilstand |
| DNAJC3DnaJ heat shock protein family (Hsp40) member C3 | Alltid | I 2 tilstander |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Alltid | I 2 tilstander |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Alltid | I 1 tilstand |
| EPRS1glutamyl-prolyl-tRNA synthetase 1 | Alltid | I 1 tilstand |
| EXOSC1exosome component 1 | Alltid | I 1 tilstand |
| FADDFas associated via death domain | Alltid | I 2 tilstander |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Alltid | I 1 tilstand |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Alltid | I 1 tilstand |
| GBA2glucosylceramidase beta 2 | Alltid | I 3 tilstander |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Alltid | I 1 tilstand |
| HTThuntingtin | Alltid | I 2 tilstander |
| IBA57iron-sulfur cluster assembly factor IBA57 | Alltid | I 2 tilstander |
| IFIH1interferon induced with helicase C domain 1 | Alltid | I 1 tilstand |
| INTS11integrator complex subunit 11 | Alltid | I 1 tilstand |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Alltid | I 1 tilstand |
| KCTD7potassium channel tetramerization domain containing 7 | Alltid | I 2 tilstander |
| KRASKRas proto-oncogene, GTPase | Alltid | I 2 tilstander |
| LSM11LSM11, U7 small nuclear RNA associated | Alltid | I 1 tilstand |
Vis 373 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| MAP2K1mitogen-activated protein kinase kinase 1 | Alltid | I 1 tilstand |
| MAP2K2mitogen-activated protein kinase kinase 2 | Alltid | I 1 tilstand |
| MAPTmicrotubule associated protein tau | Alltid | I 1 tilstand |
| MMADHCmetabolism of cobalamin associated D | Alltid | I 1 tilstand |
| MRM2mitochondrial rRNA methyltransferase 2 | Alltid | I 1 tilstand |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Alltid | I 2 tilstander |
| NADK2NAD kinase 2, mitochondrial | Alltid | I 1 tilstand |
| NDUFA2NADH:ubiquinone oxidoreductase subunit A2 | Alltid | I 1 tilstand |
| NDUFA8NADH:ubiquinone oxidoreductase subunit A8 | Alltid | I 1 tilstand |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Alltid | I 1 tilstand |
| NEUROD2neuronal differentiation 2 | Alltid | I 1 tilstand |
| NOTCH3notch receptor 3 | Alltid | I 1 tilstand |
| PCLOpiccolo presynaptic cytomatrix protein | Alltid | I 1 tilstand |
| PCYT2phosphate cytidylyltransferase 2, ethanolamine | Alltid | I 1 tilstand |
| PEX19peroxisomal biogenesis factor 19 | Alltid | I 1 tilstand |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Alltid | I 1 tilstand |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Alltid | I 3 tilstander |
| PIGSphosphatidylinositol glycan anchor biosynthesis class S | Alltid | I 1 tilstand |
| PLA2G6phospholipase A2 group VI | Alltid | I 2 tilstander |
| POLGDNA polymerase gamma, catalytic subunit | Alltid | I 2 tilstander |
| POLR1ARNA polymerase I subunit A | Alltid | I 1 tilstand |
| PSPHphosphoserine phosphatase | Alltid | I 1 tilstand |
| PTCD3pentatricopeptide repeat domain 3 | Alltid | I 1 tilstand |
| RNU4-2RNA, U4 small nuclear 2 | Alltid | I 1 tilstand |
| SLC31A1solute carrier family 31 member 1 | Alltid | I 1 tilstand |
| SLC33A1solute carrier family 33 member 1 | Alltid | I 1 tilstand |
| SLC5A6solute carrier family 5 member 6 | Alltid | I 1 tilstand |
| SLC9A6solute carrier family 9 member A6 | Alltid | I 1 tilstand |
| SPG21SPG21 abhydrolase domain containing, maspardin | Alltid | I 1 tilstand |
| SPOUT1SPOUT domain containing methyltransferase 1 | Alltid | I 1 tilstand |
| SUOXsulfite oxidase | Alltid | I 1 tilstand |
| TARS2threonyl-tRNA synthetase 2, mitochondrial | Alltid | I 1 tilstand |
| TBC1D24TBC1 domain family member 24 | Alltid | I 3 tilstander |
| TECPR2tectonin beta-propeller repeat containing 2 | Alltid | I 2 tilstander |
| TGFB1transforming growth factor beta 1 | Alltid | I 1 tilstand |
| TTC5tetratricopeptide repeat domain 5 | Alltid | I 1 tilstand |
| UBTFupstream binding transcription factor | Alltid | I 2 tilstander |
| UCHL1ubiquitin C-terminal hydrolase L1 | Alltid | I 1 tilstand |
| VARS1valyl-tRNA synthetase 1 | Alltid | I 1 tilstand |
| VPS53VPS53 subunit of GARP complex | Alltid | I 1 tilstand |
| WDR45WD repeat domain 45 | Alltid | I 2 tilstander |
| ADSLadenylosuccinate lyase | Svært ofte (80–99 %) | I 1 tilstand |
| GM2Aganglioside GM2 activator | Svært ofte (80–99 %) | I 2 tilstander |
| GRM7glutamate metabotropic receptor 7 | Svært ofte (80–99 %) | I 1 tilstand |
| NGLY1N-glycanase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| STXBP1syntaxin binding protein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| TIMM50translocase of inner mitochondrial membrane 50 | Svært ofte (80–99 %) | I 2 tilstander |
| ABAT4-aminobutyrate aminotransferase | Ofte (30–79 %) | I 1 tilstand |
| ABCD4ATP binding cassette subfamily D member 4 | Ofte (30–79 %) | I 1 tilstand |
| ACTL6Bactin like 6B | Ofte (30–79 %) | I 2 tilstander |
| ADKadenosine kinase | Ofte (30–79 %) | I 1 tilstand |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Ofte (30–79 %) | I 1 tilstand |
| AP1B1adaptor related protein complex 1 subunit beta 1 | Ofte (30–79 %) | I 1 tilstand |
| ATG7autophagy related 7 | Ofte (30–79 %) | I 1 tilstand |
| ATXN7ataxin 7 | Ofte (30–79 %) | I 1 tilstand |
| BCAP31B cell receptor associated protein 31 | Ofte (30–79 %) | I 1 tilstand |
| BCAS3BCAS3 microtubule associated cell migration factor | Ofte (30–79 %) | I 1 tilstand |
| BORCS5BLOC-1 related complex subunit 5 | Ofte (30–79 %) | I 1 tilstand |
| CAPRIN1cell cycle associated protein 1 | Ofte (30–79 %) | I 1 tilstand |
| CDK19cyclin dependent kinase 19 | Ofte (30–79 %) | I 2 tilstander |
| CILK1ciliogenesis associated kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| CLN8CLN8 transmembrane ER and ERGIC protein | Ofte (30–79 %) | I 3 tilstander |
| CLPBClpB family mitochondrial disaggregase | Ofte (30–79 %) | I 2 tilstander |
| COLGALT1collagen beta(1-O)galactosyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| COQ4coenzyme Q4 | Ofte (30–79 %) | I 1 tilstand |
| CPSF3cleavage and polyadenylation specific factor 3 | Ofte (30–79 %) | I 1 tilstand |
| CRLS1cardiolipin synthase 1 | Ofte (30–79 %) | I 1 tilstand |
| DHX30DExH-box helicase 30 | Ofte (30–79 %) | I 1 tilstand |
| DTYMKdeoxythymidylate kinase | Ofte (30–79 %) | I 1 tilstand |
| EMC1ER membrane protein complex subunit 1 | Ofte (30–79 %) | I 2 tilstander |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Ofte (30–79 %) | I 2 tilstander |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Ofte (30–79 %) | I 1 tilstand |
| FAR1fatty acyl-CoA reductase 1 | Ofte (30–79 %) | I 1 tilstand |
| FASTKD2FASTK mitochondrial RNA regulator 2 | Ofte (30–79 %) | I 1 tilstand |
| FBXL4F-box and leucine rich repeat protein 4 | Ofte (30–79 %) | I 1 tilstand |
| FBXO28F-box protein 28 | Ofte (30–79 %) | I 2 tilstander |
| FDXRferredoxin reductase | Ofte (30–79 %) | I 1 tilstand |
| FGFR1fibroblast growth factor receptor 1 | Ofte (30–79 %) | I 1 tilstand |
| FHfumarate hydratase | Ofte (30–79 %) | I 2 tilstander |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Ofte (30–79 %) | I 2 tilstander |
| GNAO1G protein subunit alpha o1 | Ofte (30–79 %) | I 2 tilstander |
| GOT2glutamic-oxaloacetic transaminase 2 | Ofte (30–79 %) | I 1 tilstand |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Ofte (30–79 %) | I 1 tilstand |
| JKAMPJNK1/MAPK8 associated membrane protein | Ofte (30–79 %) | I 1 tilstand |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Ofte (30–79 %) | I 2 tilstander |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Ofte (30–79 %) | I 1 tilstand |
| KIDINS220kinase D interacting substrate 220 | Ofte (30–79 %) | I 1 tilstand |
| KIF1Akinesin family member 1A | Ofte (30–79 %) | I 1 tilstand |
| LAGE3L antigen family member 3 | Ofte (30–79 %) | I 1 tilstand |
| LGI1leucine rich glioma inactivated 1 | Ofte (30–79 %) | I 1 tilstand |
| LONP1lon peptidase 1, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| MARS2methionyl-tRNA synthetase 2, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Ofte (30–79 %) | I 2 tilstander |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Ofte (30–79 %) | I 1 tilstand |
| NANSN-acetylneuraminate synthase | Ofte (30–79 %) | I 1 tilstand |
| NAXDNAD(P)HX dehydratase | Ofte (30–79 %) | I 2 tilstander |
| NDUFB8NADH:ubiquinone oxidoreductase subunit B8 | Ofte (30–79 %) | I 1 tilstand |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| NT5C25'-nucleotidase, cytosolic II | Ofte (30–79 %) | I 1 tilstand |
| OSGEPO-sialoglycoprotein endopeptidase | Ofte (30–79 %) | I 1 tilstand |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Ofte (30–79 %) | I 1 tilstand |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Ofte (30–79 %) | I 2 tilstander |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Ofte (30–79 %) | I 1 tilstand |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Ofte (30–79 %) | I 1 tilstand |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Ofte (30–79 %) | I 1 tilstand |
| PITRM1pitrilysin metallopeptidase 1 | Ofte (30–79 %) | I 1 tilstand |
| PLCB1phospholipase C beta 1 | Ofte (30–79 %) | I 1 tilstand |
| POGZpogo transposable element derived with ZNF domain | Ofte (30–79 %) | I 1 tilstand |
| PPP2R2Bprotein phosphatase 2 regulatory subunit Bbeta | Ofte (30–79 %) | I 1 tilstand |
| PRUNE1prune exopolyphosphatase 1 | Ofte (30–79 %) | I 1 tilstand |
| PUM1pumilio RNA binding family member 1 | Ofte (30–79 %) | I 1 tilstand |
| PUS3pseudouridine synthase 3 | Ofte (30–79 %) | I 1 tilstand |
| RARS1arginyl-tRNA synthetase 1 | Ofte (30–79 %) | I 1 tilstand |
| RBL2RB transcriptional corepressor like 2 | Ofte (30–79 %) | I 1 tilstand |
| RBSNrabenosyn, RAB effector | Ofte (30–79 %) | I 1 tilstand |
| RCC1regulator of chromosome condensation 1 | Ofte (30–79 %) | I 1 tilstand |
| REPS1RALBP1 associated Eps domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| RFT1RFT1 glycolipid translocator homolog | Ofte (30–79 %) | I 2 tilstander |
| RNF216ring finger protein 216 | Ofte (30–79 %) | I 1 tilstand |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Ofte (30–79 %) | I 3 tilstander |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Ofte (30–79 %) | I 2 tilstander |
| SCO2synthesis of cytochrome C oxidase 2 | Ofte (30–79 %) | I 1 tilstand |
| SLC12A5solute carrier family 12 member 5 | Ofte (30–79 %) | I 2 tilstander |
| SLC19A1solute carrier family 19 member 1 | Ofte (30–79 %) | I 1 tilstand |
| SLC1A2solute carrier family 1 member 2 | Ofte (30–79 %) | I 2 tilstander |
| SLC25A22solute carrier family 25 member 22 | Ofte (30–79 %) | I 2 tilstander |
| SLC35A2solute carrier family 35 member A2 | Ofte (30–79 %) | I 2 tilstander |
| SLC35B2solute carrier family 35 member B2 | Ofte (30–79 %) | I 1 tilstand |
| SLC35C1solute carrier family 35 member C1 | Ofte (30–79 %) | I 1 tilstand |
| SLC39A14solute carrier family 39 member 14 | Ofte (30–79 %) | I 2 tilstander |
| SNAPC4small nuclear RNA activating complex polypeptide 4 | Ofte (30–79 %) | I 1 tilstand |
| SOX10SRY-box transcription factor 10 | Ofte (30–79 %) | I 1 tilstand |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Ofte (30–79 %) | I 2 tilstander |
| TANGO2transport and golgi organization 2 homolog | Ofte (30–79 %) | I 1 tilstand |
| TDP1tyrosyl-DNA phosphodiesterase 1 | Ofte (30–79 %) | I 1 tilstand |
| TMX2thioredoxin related transmembrane protein 2 | Ofte (30–79 %) | I 1 tilstand |
| TPI1triosephosphate isomerase 1 | Ofte (30–79 %) | I 1 tilstand |
| TRAPPC11trafficking protein particle complex subunit 11 | Ofte (30–79 %) | I 2 tilstander |
| TRAPPC2Ltrafficking protein particle complex subunit 2L | Ofte (30–79 %) | I 1 tilstand |
| TRNT1tRNA nucleotidyl transferase 1 | Ofte (30–79 %) | I 1 tilstand |
| TRPM7transient receptor potential cation channel subfamily M member 7 | Ofte (30–79 %) | I 1 tilstand |
| UBA5ubiquitin like modifier activating enzyme 5 | Ofte (30–79 %) | I 2 tilstander |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Ofte (30–79 %) | I 2 tilstander |
| WDR73WD repeat domain 73 | Ofte (30–79 %) | I 1 tilstand |
| WWOXWW domain containing oxidoreductase | Ofte (30–79 %) | I 1 tilstand |
| YRDCyrdC N6-threonylcarbamoyltransferase domain containing | Ofte (30–79 %) | I 1 tilstand |
| ADNPactivity dependent neuroprotector homeobox | Noen ganger (5–29 %) | I 1 tilstand |
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Noen ganger (5–29 %) | I 2 tilstander |
| ALG11ALG11 alpha-1,2-mannosyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Noen ganger (5–29 %) | I 2 tilstander |
| APC2APC regulator of Wnt signaling pathway 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Noen ganger (5–29 %) | I 2 tilstander |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Noen ganger (5–29 %) | I 1 tilstand |
| ATP6V1AATPase H+ transporting V1 subunit A | Noen ganger (5–29 %) | I 2 tilstander |
| BOLA3bolA family member 3 | Noen ganger (5–29 %) | I 1 tilstand |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Noen ganger (5–29 %) | I 2 tilstander |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Noen ganger (5–29 %) | I 1 tilstand |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Noen ganger (5–29 %) | I 2 tilstander |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CARS1cysteinyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CELF2CUGBP Elav-like family member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CLTCclathrin heavy chain | Noen ganger (5–29 %) | I 1 tilstand |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CNTNAP2contactin associated protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| COASYCoenzyme A synthase | Noen ganger (5–29 %) | I 1 tilstand |
| COG5component of oligomeric golgi complex 5 | Noen ganger (5–29 %) | I 1 tilstand |
| COG6component of oligomeric golgi complex 6 | Noen ganger (5–29 %) | I 1 tilstand |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Noen ganger (5–29 %) | I 2 tilstander |
| DALRD3DALR anticodon binding domain containing 3 | Noen ganger (5–29 %) | I 1 tilstand |
| DDX3XDEAD-box helicase 3 X-linked | Noen ganger (5–29 %) | I 1 tilstand |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Noen ganger (5–29 %) | I 1 tilstand |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Noen ganger (5–29 %) | I 1 tilstand |
| DNM1dynamin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DNMT1DNA methyltransferase 1 | Noen ganger (5–29 %) | I 2 tilstander |
| DOCK6dedicator of cytokinesis 6 | Noen ganger (5–29 %) | I 1 tilstand |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Noen ganger (5–29 %) | I 1 tilstand |
| DPYDdihydropyrimidine dehydrogenase | Noen ganger (5–29 %) | I 2 tilstander |
| EPG5ectopic P-granules 5 autophagy tethering factor | Noen ganger (5–29 %) | I 1 tilstand |
| FEM1Bfem-1 homolog B | Noen ganger (5–29 %) | I 1 tilstand |
| FGF12fibroblast growth factor 12 | Noen ganger (5–29 %) | I 1 tilstand |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Noen ganger (5–29 %) | I 1 tilstand |
| FOXG1forkhead box G1 | Noen ganger (5–29 %) | I 1 tilstand |
| FZR1fizzy and cell division cycle 20 related 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Noen ganger (5–29 %) | I 1 tilstand |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Noen ganger (5–29 %) | I 1 tilstand |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Noen ganger (5–29 %) | I 1 tilstand |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Noen ganger (5–29 %) | I 1 tilstand |
| GAD1glutamate decarboxylase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GCDHglutaryl-CoA dehydrogenase | Noen ganger (5–29 %) | I 1 tilstand |
| GRIA2glutamate ionotropic receptor AMPA type subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Noen ganger (5–29 %) | I 2 tilstander |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Noen ganger (5–29 %) | I 2 tilstander |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Noen ganger (5–29 %) | I 1 tilstand |
| HDAC4histone deacetylase 4 | Noen ganger (5–29 %) | I 1 tilstand |
| HEXBhexosaminidase subunit beta | Noen ganger (5–29 %) | I 1 tilstand |
| HNF1BHNF1 homeobox B | Noen ganger (5–29 %) | I 1 tilstand |
| IRF2BPLinterferon regulatory factor 2 binding protein like | Noen ganger (5–29 %) | I 1 tilstand |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Noen ganger (5–29 %) | I 2 tilstander |
| KCNMA1potassium calcium-activated channel subfamily M alpha 1 | Noen ganger (5–29 %) | I 1 tilstand |
| KIF1Ckinesin family member 1C | Noen ganger (5–29 %) | I 2 tilstander |
| KIF26Akinesin family member 26A | Noen ganger (5–29 %) | I 1 tilstand |
| KIF7kinesin family member 7 | Noen ganger (5–29 %) | I 1 tilstand |
| LHX1LIM homeobox 1 | Noen ganger (5–29 %) | I 1 tilstand |
| LIASlipoic acid synthetase | Noen ganger (5–29 %) | I 1 tilstand |
| LYRM7LYR motif containing 7 | Noen ganger (5–29 %) | I 1 tilstand |
| MAFMAF bZIP transcription factor | Noen ganger (5–29 %) | I 1 tilstand |
| MECP2methyl-CpG binding protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Noen ganger (5–29 %) | I 1 tilstand |
| MED25mediator complex subunit 25 | Noen ganger (5–29 %) | I 2 tilstander |
| MED27mediator complex subunit 27 | Noen ganger (5–29 %) | I 1 tilstand |
| MMACHCmetabolism of cobalamin associated C | Noen ganger (5–29 %) | I 1 tilstand |
| MORC2MORC family CW-type zinc finger 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MYT1Lmyelin transcription factor 1 like | Noen ganger (5–29 %) | I 1 tilstand |
| NACC1nucleus accumbens associated 1 | Noen ganger (5–29 %) | I 2 tilstander |
| NALCNsodium leak channel, non-selective | Noen ganger (5–29 %) | I 1 tilstand |
| NECAP1NECAP endocytosis associated 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NFIXnuclear factor I X | Noen ganger (5–29 %) | I 2 tilstander |
| NKX6-2NK6 homeobox 2 | Noen ganger (5–29 %) | I 1 tilstand |
| NODALnodal growth differentiation factor | Noen ganger (5–29 %) | I 1 tilstand |
| NSD1nuclear receptor binding SET domain protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Noen ganger (5–29 %) | I 1 tilstand |
| OFD1OFD1 centriole and centriolar satellite protein | Noen ganger (5–29 %) | I 1 tilstand |
| OPLAH5-oxoprolinase, ATP-hydrolysing | Noen ganger (5–29 %) | I 1 tilstand |
| PACS2phosphofurin acidic cluster sorting protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Noen ganger (5–29 %) | I 1 tilstand |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Noen ganger (5–29 %) | I 1 tilstand |
| POLA1DNA polymerase alpha 1, catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Noen ganger (5–29 %) | I 2 tilstander |
| PRKNparkin RBR E3 ubiquitin protein ligase | Noen ganger (5–29 %) | I 1 tilstand |
| RALGAPA1Ral GTPase activating protein catalytic subunit alpha 1 | Noen ganger (5–29 %) | I 1 tilstand |
| RFC4replication factor C subunit 4 | Noen ganger (5–29 %) | I 1 tilstand |
| RNU2-2RNA, U2 small nuclear 2 | Noen ganger (5–29 %) | I 1 tilstand |
| RNU7-1RNA, U7 small nuclear 1 | Noen ganger (5–29 %) | I 1 tilstand |
| RRM1ribonucleotide reductase catalytic subunit M1 | Noen ganger (5–29 %) | I 1 tilstand |
| RTTNrotatin | Noen ganger (5–29 %) | I 1 tilstand |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC13A5solute carrier family 13 member 5 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC2A3solute carrier family 2 member 3 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC32A1solute carrier family 32 member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC38A3solute carrier family 38 member 3 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC39A8solute carrier family 39 member 8 | Noen ganger (5–29 %) | I 1 tilstand |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Noen ganger (5–29 %) | I 1 tilstand |
| STAG1STAG1 cohesin complex component | Noen ganger (5–29 %) | I 1 tilstand |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SYNJ1synaptojanin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SYT2synaptotagmin 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SZT2SZT2 subunit of KICSTOR complex | Noen ganger (5–29 %) | I 1 tilstand |
| TAF2TATA-box binding protein associated factor 2 | Noen ganger (5–29 %) | I 2 tilstander |
| TK2thymidine kinase 2 | Noen ganger (5–29 %) | I 2 tilstander |
| TOP3ADNA topoisomerase III alpha | Noen ganger (5–29 %) | I 1 tilstand |
| TP53RKTP53 regulating kinase | Noen ganger (5–29 %) | I 1 tilstand |
| TRAF7TNF receptor associated factor 7 | Noen ganger (5–29 %) | I 1 tilstand |
| TRAK1trafficking kinesin protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TSEN2tRNA splicing endonuclease subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| UFSP2UFM1 specific peptidase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| UNC13Aunc-13 homolog A | Noen ganger (5–29 %) | I 1 tilstand |
| UNC80unc-80 subunit of NALCN channel complex | Noen ganger (5–29 %) | I 1 tilstand |
| UPB1beta-ureidopropionase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| VPS4Avacuolar protein sorting 4 homolog A | Noen ganger (5–29 %) | I 1 tilstand |
| YIF1BYip1 interacting factor homolog B, membrane trafficking protein | Noen ganger (5–29 %) | I 1 tilstand |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Noen ganger (5–29 %) | I 1 tilstand |
| ZFXzinc finger protein X-linked | Noen ganger (5–29 %) | I 1 tilstand |
| ATAD1ATPase family AAA domain containing 1 | Sjelden (1–4%) | I 1 tilstand |
| CLCN4Cl-/H+ antiporter 4 | Sjelden (1–4%) | I 1 tilstand |
| CTCFCCCTC-binding factor | Sjelden (1–4%) | I 1 tilstand |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Sjelden (1–4%) | I 1 tilstand |
| GLE1GLE1 RNA export mediator | Sjelden (1–4%) | I 1 tilstand |
| PDHXpyruvate dehydrogenase complex component X | Sjelden (1–4%) | I 1 tilstand |
| ACY1aminoacylase 1 | Ikke registrert | I 1 tilstand |
| ADPRSADP-ribosylserine hydrolase | Ikke registrert | I 1 tilstand |
| AGAaspartylglucosaminidase | Ikke registrert | I 1 tilstand |
| AIMP2aminoacyl tRNA synthetase complex interacting multifunctional protein 2 | Ikke registrert | I 1 tilstand |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Ikke registrert | I 1 tilstand |
| ATN1atrophin 1 | Ikke registrert | I 1 tilstand |
| ATRXATRX chromatin remodeler | Ikke registrert | I 1 tilstand |
| AUHAU RNA binding methylglutaconyl-CoA hydratase | Ikke registrert | I 1 tilstand |
| B3GLCTbeta 3-glucosyltransferase | Ikke registrert | I 1 tilstand |
| BCS1LBCS1 ubiquinol-cytochrome c reductase complex chaperone | Ikke registrert | I 1 tilstand |
| C9orf72C9orf72-SMCR8 complex subunit | Ikke registrert | I 1 tilstand |
| CARS2cysteinyl-tRNA synthetase 2, mitochondrial | Ikke registrert | I 1 tilstand |
| CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin | Ikke registrert | I 1 tilstand |
| CLN6CLN6 transmembrane ER protein | Ikke registrert | I 1 tilstand |
| CNTNAP1contactin associated protein 1 | Ikke registrert | I 1 tilstand |
| COG4component of oligomeric golgi complex 4 | Ikke registrert | I 1 tilstand |
| CTDP1CTD phosphatase 1 | Ikke registrert | I 1 tilstand |
| CTNScystinosin, lysosomal cystine transporter | Ikke registrert | I 1 tilstand |
| DGUOKdeoxyguanosine kinase | Ikke registrert | I 1 tilstand |
| DHFRdihydrofolate reductase | Ikke registrert | I 1 tilstand |
| DMPKDM1 protein kinase | Ikke registrert | I 1 tilstand |
| DSEdermatan sulfate epimerase | Ikke registrert | I 1 tilstand |
| DYNC1I2dynein cytoplasmic 1 intermediate chain 2 | Ikke registrert | I 1 tilstand |
| EIF2AK2eukaryotic translation initiation factor 2 alpha kinase 2 | Ikke registrert | I 1 tilstand |
| EXOSC3exosome component 3 | Ikke registrert | I 1 tilstand |
| EXOSC9exosome component 9 | Ikke registrert | I 1 tilstand |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Ikke registrert | I 1 tilstand |
| FGF13fibroblast growth factor 13 | Ikke registrert | I 1 tilstand |
| FRRS1Lferric chelate reductase 1 like | Ikke registrert | I 1 tilstand |
| FUCA1alpha-L-fucosidase 1 | Ikke registrert | I 1 tilstand |
| GBA1glucosylceramidase beta 1 | Ikke registrert | I 1 tilstand |
| GJC2gap junction protein gamma 2 | Ikke registrert | I 1 tilstand |
| GLB1galactosidase beta 1 | Ikke registrert | I 1 tilstand |
| HEPACAMhepatic and glial cell adhesion molecule | Ikke registrert | I 1 tilstand |
| HRASHRas proto-oncogene, GTPase | Ikke registrert | I 1 tilstand |
| HTRA2HtrA serine peptidase 2 | Ikke registrert | I 1 tilstand |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Ikke registrert | I 1 tilstand |
| ITPAinosine triphosphatase | Ikke registrert | I 1 tilstand |
| KANK1KN motif and ankyrin repeat domains 1 | Ikke registrert | I 1 tilstand |
| KYkyphoscoliosis peptidase | Ikke registrert | I 1 tilstand |
| MFSD8major facilitator superfamily domain containing 8 | Ikke registrert | I 1 tilstand |
| MOCS1molybdenum cofactor synthesis 1 | Ikke registrert | I 1 tilstand |
| MOCS2molybdenum cofactor synthesis 2 | Ikke registrert | I 1 tilstand |
| MOGSmannosyl-oligosaccharide glucosidase | Ikke registrert | I 1 tilstand |
| MPDU1mannose-P-dolichol utilization defect 1 | Ikke registrert | I 1 tilstand |
| MTR5-methyltetrahydrofolate-homocysteine methyltransferase | Ikke registrert | I 1 tilstand |
| MTRR5-methyltetrahydrofolate-homocysteine methyltransferase reductase | Ikke registrert | I 1 tilstand |
| MVKmevalonate kinase | Ikke registrert | I 1 tilstand |
| NAGAalpha-N-acetylgalactosaminidase | Ikke registrert | I 1 tilstand |
| NRROSnegative regulator of reactive oxygen species | Ikke registrert | I 1 tilstand |
| NUP214nucleoporin 214 | Ikke registrert | I 1 tilstand |
| NUTM2B-AS1NUTM2B antisense RNA 1 | Ikke registrert | I 1 tilstand |
| PCCApropionyl-CoA carboxylase subunit alpha | Ikke registrert | I 1 tilstand |
| PCCBpropionyl-CoA carboxylase subunit beta | Ikke registrert | I 1 tilstand |
| PCK1phosphoenolpyruvate carboxykinase 1 | Ikke registrert | I 1 tilstand |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Ikke registrert | I 1 tilstand |
| PLK4polo like kinase 4 | Ikke registrert | I 1 tilstand |
| PPT1palmitoyl-protein thioesterase 1 | Ikke registrert | I 1 tilstand |
| PQBP1polyglutamine binding protein 1 | Ikke registrert | I 1 tilstand |
| PUF60poly(U) binding splicing factor 60 | Ikke registrert | I 1 tilstand |
| PYCR2pyrroline-5-carboxylate reductase 2 | Ikke registrert | I 1 tilstand |
| QARS1glutaminyl-tRNA synthetase 1 | Ikke registrert | I 1 tilstand |
| RAB23RAB23, member RAS oncogene family | Ikke registrert | I 1 tilstand |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Ikke registrert | I 1 tilstand |
| RARS2arginyl-tRNA synthetase 2, mitochondrial | Ikke registrert | I 1 tilstand |
| RNASEH2Aribonuclease H2 subunit A | Ikke registrert | I 1 tilstand |
| RNASEH2Bribonuclease H2 subunit B | Ikke registrert | I 1 tilstand |
| ROGDIrogdi atypical leucine zipper | Ikke registrert | I 1 tilstand |
| SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | Ikke registrert | I 1 tilstand |
| SERPINI1serpin family I member 1 | Ikke registrert | I 1 tilstand |
| SETBP1SET binding protein 1 | Ikke registrert | I 1 tilstand |
| SLC17A5solute carrier family 17 member 5 | Ikke registrert | I 1 tilstand |
| SLC1A4solute carrier family 1 member 4 | Ikke registrert | I 1 tilstand |
| SLC2A1solute carrier family 2 member 1 | Ikke registrert | I 1 tilstand |
| SMG9SMG9 nonsense mediated mRNA decay factor | Ikke registrert | I 1 tilstand |
| SNORD118small nucleolar RNA, C/D box 118 | Ikke registrert | I 1 tilstand |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Ikke registrert | I 1 tilstand |
| STAMBPSTAM binding protein | Ikke registrert | I 1 tilstand |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Ikke registrert | I 1 tilstand |
| SUMF1sulfatase modifying factor 1 | Ikke registrert | I 1 tilstand |
| TBCKTBC1 domain containing kinase | Ikke registrert | I 1 tilstand |
| TCTN3tectonic family member 3 | Ikke registrert | I 1 tilstand |
| TOE1target of EGR1, exonuclease | Ikke registrert | I 1 tilstand |
| TPP1tripeptidyl peptidase 1 | Ikke registrert | I 1 tilstand |
| TREM2triggering receptor expressed on myeloid cells 2 | Ikke registrert | I 1 tilstand |
| TREX1three prime repair exonuclease 1 | Ikke registrert | I 1 tilstand |
| TRIT1tRNA isopentenyltransferase 1 | Ikke registrert | I 1 tilstand |
| TTC19tetratricopeptide repeat domain 19 | Ikke registrert | I 1 tilstand |
| TUBGCP6tubulin gamma complex component 6 | Ikke registrert | I 1 tilstand |
| TWNKtwinkle mtDNA helicase | Ikke registrert | I 1 tilstand |
| TYROBPtransmembrane immune signaling adaptor TYROBP | Ikke registrert | I 1 tilstand |
| UFM1ubiquitin fold modifier 1 | Ikke registrert | I 1 tilstand |
| WFS1wolframin ER transmembrane glycoprotein | Ikke registrert | I 1 tilstand |
| WIPI2WD repeat domain, phosphoinositide interacting 2 | Ikke registrert | I 1 tilstand |
| WNK3WNK lysine deficient protein kinase 3 | Ikke registrert | I 1 tilstand |
| ZC4H2zinc finger C4H2-type containing | Ikke registrert | I 1 tilstand |
| ZMIZ1zinc finger MIZ-type containing 1 | Ikke registrert | I 1 tilstand |
| ZNF335zinc finger protein 335 | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
Smalere egenskaper
Bredere egenskaper
Slik er informasjonen samlet
- Human Phenotype Ontology, versjon 2026-09-01: egenskapen, navnene på den, definisjonen og genene som er knyttet til den. Les mer på hpo.jax.org.
- Datautgave 2026.10.16-c6eea6bf.
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