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Træk
Degeneration of cerebrum
Klinisk navn: Cerebral atrophy
Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.
Resumé
- Kropssystem
- 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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Bestil min Genome Test413 gener knyttet til Degeneration of cerebrum
Ændringer i disse gener forårsager sjældne tilstande, hvor Degeneration of cerebrum ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| AARS1alanyl-tRNA synthetase 1 | Altid | I 2 tilstande |
| ACER3alkaline ceramidase 3 | Altid | I 1 tilstand |
| ADAM22ADAM metallopeptidase domain 22 | Altid | I 1 tilstand |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Altid | I 1 tilstand |
| AHDC1AT-hook DNA binding motif containing 1 | Altid | I 1 tilstand |
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Altid | I 1 tilstand |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Altid | I 1 tilstand |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Altid | I 2 tilstande |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Altid | I 1 tilstand |
| ATP11AATPase phospholipid transporting 11A | Altid | I 1 tilstand |
| ATP6AP2ATPase H+ transporting accessory protein 2 | Altid | I 1 tilstand |
| BORCS8BLOC-1 related complex subunit 8 | Altid | I 1 tilstand |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Altid | I 1 tilstand |
| CCDC47coiled-coil domain containing 47 | Altid | I 1 tilstand |
| COG1component of oligomeric golgi complex 1 | Altid | I 1 tilstand |
| COG7component of oligomeric golgi complex 7 | Altid | I 1 tilstand |
| COL18A1collagen type XVIII alpha 1 chain | Altid | I 1 tilstand |
| COQ9coenzyme Q9 | Altid | I 1 tilstand |
| COX4I1cytochrome c oxidase subunit 4I1 | Altid | I 1 tilstand |
| CST3cystatin C | Altid | I 1 tilstand |
| CTSDcathepsin D | Altid | I 1 tilstand |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Altid | I 1 tilstand |
| DNAJC3DnaJ heat shock protein family (Hsp40) member C3 | Altid | I 2 tilstande |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Altid | I 2 tilstande |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Altid | I 1 tilstand |
| EPRS1glutamyl-prolyl-tRNA synthetase 1 | Altid | I 1 tilstand |
| EXOSC1exosome component 1 | Altid | I 1 tilstand |
| FADDFas associated via death domain | Altid | I 2 tilstande |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Altid | I 1 tilstand |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Altid | I 1 tilstand |
| GBA2glucosylceramidase beta 2 | Altid | I 3 tilstande |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Altid | I 1 tilstand |
| HTThuntingtin | Altid | I 2 tilstande |
| IBA57iron-sulfur cluster assembly factor IBA57 | Altid | I 2 tilstande |
| IFIH1interferon induced with helicase C domain 1 | Altid | I 1 tilstand |
| INTS11integrator complex subunit 11 | Altid | I 1 tilstand |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Altid | I 1 tilstand |
| KCTD7potassium channel tetramerization domain containing 7 | Altid | I 2 tilstande |
| KRASKRas proto-oncogene, GTPase | Altid | I 2 tilstande |
| LSM11LSM11, U7 small nuclear RNA associated | Altid | I 1 tilstand |
Vis 373 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| MAP2K1mitogen-activated protein kinase kinase 1 | Altid | I 1 tilstand |
| MAP2K2mitogen-activated protein kinase kinase 2 | Altid | I 1 tilstand |
| MAPTmicrotubule associated protein tau | Altid | I 1 tilstand |
| MMADHCmetabolism of cobalamin associated D | Altid | I 1 tilstand |
| MRM2mitochondrial rRNA methyltransferase 2 | Altid | I 1 tilstand |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Altid | I 2 tilstande |
| NADK2NAD kinase 2, mitochondrial | Altid | I 1 tilstand |
| NDUFA2NADH:ubiquinone oxidoreductase subunit A2 | Altid | I 1 tilstand |
| NDUFA8NADH:ubiquinone oxidoreductase subunit A8 | Altid | I 1 tilstand |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Altid | I 1 tilstand |
| NEUROD2neuronal differentiation 2 | Altid | I 1 tilstand |
| NOTCH3notch receptor 3 | Altid | I 1 tilstand |
| PCLOpiccolo presynaptic cytomatrix protein | Altid | I 1 tilstand |
| PCYT2phosphate cytidylyltransferase 2, ethanolamine | Altid | I 1 tilstand |
| PEX19peroxisomal biogenesis factor 19 | Altid | I 1 tilstand |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Altid | I 1 tilstand |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Altid | I 3 tilstande |
| PIGSphosphatidylinositol glycan anchor biosynthesis class S | Altid | I 1 tilstand |
| PLA2G6phospholipase A2 group VI | Altid | I 2 tilstande |
| POLGDNA polymerase gamma, catalytic subunit | Altid | I 2 tilstande |
| POLR1ARNA polymerase I subunit A | Altid | I 1 tilstand |
| PSPHphosphoserine phosphatase | Altid | I 1 tilstand |
| PTCD3pentatricopeptide repeat domain 3 | Altid | I 1 tilstand |
| RNU4-2RNA, U4 small nuclear 2 | Altid | I 1 tilstand |
| SLC31A1solute carrier family 31 member 1 | Altid | I 1 tilstand |
| SLC33A1solute carrier family 33 member 1 | Altid | I 1 tilstand |
| SLC5A6solute carrier family 5 member 6 | Altid | I 1 tilstand |
| SLC9A6solute carrier family 9 member A6 | Altid | I 1 tilstand |
| SPG21SPG21 abhydrolase domain containing, maspardin | Altid | I 1 tilstand |
| SPOUT1SPOUT domain containing methyltransferase 1 | Altid | I 1 tilstand |
| SUOXsulfite oxidase | Altid | I 1 tilstand |
| TARS2threonyl-tRNA synthetase 2, mitochondrial | Altid | I 1 tilstand |
| TBC1D24TBC1 domain family member 24 | Altid | I 3 tilstande |
| TECPR2tectonin beta-propeller repeat containing 2 | Altid | I 2 tilstande |
| TGFB1transforming growth factor beta 1 | Altid | I 1 tilstand |
| TTC5tetratricopeptide repeat domain 5 | Altid | I 1 tilstand |
| UBTFupstream binding transcription factor | Altid | I 2 tilstande |
| UCHL1ubiquitin C-terminal hydrolase L1 | Altid | I 1 tilstand |
| VARS1valyl-tRNA synthetase 1 | Altid | I 1 tilstand |
| VPS53VPS53 subunit of GARP complex | Altid | I 1 tilstand |
| WDR45WD repeat domain 45 | Altid | I 2 tilstande |
| ADSLadenylosuccinate lyase | Meget ofte (80–99 %) | I 1 tilstand |
| GM2Aganglioside GM2 activator | Meget ofte (80–99 %) | I 2 tilstande |
| GRM7glutamate metabotropic receptor 7 | Meget ofte (80–99 %) | I 1 tilstand |
| NGLY1N-glycanase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| STXBP1syntaxin binding protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| TIMM50translocase of inner mitochondrial membrane 50 | Meget ofte (80–99 %) | I 2 tilstande |
| 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 tilstande |
| 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 tilstande |
| CILK1ciliogenesis associated kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| CLN8CLN8 transmembrane ER and ERGIC protein | Ofte (30–79 %) | I 3 tilstande |
| CLPBClpB family mitochondrial disaggregase | Ofte (30–79 %) | I 2 tilstande |
| 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 tilstande |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Ofte (30–79 %) | I 2 tilstande |
| 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 tilstande |
| 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 tilstande |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Ofte (30–79 %) | I 2 tilstande |
| GNAO1G protein subunit alpha o1 | Ofte (30–79 %) | I 2 tilstande |
| 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 tilstande |
| 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 tilstande |
| 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 tilstande |
| 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 tilstande |
| 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 tilstande |
| RNF216ring finger protein 216 | Ofte (30–79 %) | I 1 tilstand |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Ofte (30–79 %) | I 3 tilstande |
| 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 tilstande |
| SCO2synthesis of cytochrome C oxidase 2 | Ofte (30–79 %) | I 1 tilstand |
| SLC12A5solute carrier family 12 member 5 | Ofte (30–79 %) | I 2 tilstande |
| SLC19A1solute carrier family 19 member 1 | Ofte (30–79 %) | I 1 tilstand |
| SLC1A2solute carrier family 1 member 2 | Ofte (30–79 %) | I 2 tilstande |
| SLC25A22solute carrier family 25 member 22 | Ofte (30–79 %) | I 2 tilstande |
| SLC35A2solute carrier family 35 member A2 | Ofte (30–79 %) | I 2 tilstande |
| 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 tilstande |
| 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 tilstande |
| 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 tilstande |
| 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 tilstande |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Ofte (30–79 %) | I 2 tilstande |
| 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 | Nogle gange (5–29 %) | I 1 tilstand |
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Nogle gange (5–29 %) | I 2 tilstande |
| ALG11ALG11 alpha-1,2-mannosyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Nogle gange (5–29 %) | I 2 tilstande |
| APC2APC regulator of Wnt signaling pathway 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Nogle gange (5–29 %) | I 2 tilstande |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Nogle gange (5–29 %) | I 1 tilstand |
| ATP6V1AATPase H+ transporting V1 subunit A | Nogle gange (5–29 %) | I 2 tilstande |
| BOLA3bolA family member 3 | Nogle gange (5–29 %) | I 1 tilstand |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Nogle gange (5–29 %) | I 2 tilstande |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Nogle gange (5–29 %) | I 1 tilstand |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Nogle gange (5–29 %) | I 2 tilstande |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CARS1cysteinyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CELF2CUGBP Elav-like family member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| CLTCclathrin heavy chain | Nogle gange (5–29 %) | I 1 tilstand |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Nogle gange (5–29 %) | I 1 tilstand |
| CNTNAP2contactin associated protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| COASYCoenzyme A synthase | Nogle gange (5–29 %) | I 1 tilstand |
| COG5component of oligomeric golgi complex 5 | Nogle gange (5–29 %) | I 1 tilstand |
| COG6component of oligomeric golgi complex 6 | Nogle gange (5–29 %) | I 1 tilstand |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Nogle gange (5–29 %) | I 2 tilstande |
| DALRD3DALR anticodon binding domain containing 3 | Nogle gange (5–29 %) | I 1 tilstand |
| DDX3XDEAD-box helicase 3 X-linked | Nogle gange (5–29 %) | I 1 tilstand |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Nogle gange (5–29 %) | I 1 tilstand |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Nogle gange (5–29 %) | I 1 tilstand |
| DNM1dynamin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DNMT1DNA methyltransferase 1 | Nogle gange (5–29 %) | I 2 tilstande |
| DOCK6dedicator of cytokinesis 6 | Nogle gange (5–29 %) | I 1 tilstand |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Nogle gange (5–29 %) | I 1 tilstand |
| DPYDdihydropyrimidine dehydrogenase | Nogle gange (5–29 %) | I 2 tilstande |
| EPG5ectopic P-granules 5 autophagy tethering factor | Nogle gange (5–29 %) | I 1 tilstand |
| FEM1Bfem-1 homolog B | Nogle gange (5–29 %) | I 1 tilstand |
| FGF12fibroblast growth factor 12 | Nogle gange (5–29 %) | I 1 tilstand |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Nogle gange (5–29 %) | I 1 tilstand |
| FOXG1forkhead box G1 | Nogle gange (5–29 %) | I 1 tilstand |
| FZR1fizzy and cell division cycle 20 related 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Nogle gange (5–29 %) | I 1 tilstand |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Nogle gange (5–29 %) | I 1 tilstand |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Nogle gange (5–29 %) | I 1 tilstand |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Nogle gange (5–29 %) | I 1 tilstand |
| GAD1glutamate decarboxylase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GCDHglutaryl-CoA dehydrogenase | Nogle gange (5–29 %) | I 1 tilstand |
| GRIA2glutamate ionotropic receptor AMPA type subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Nogle gange (5–29 %) | I 2 tilstande |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Nogle gange (5–29 %) | I 2 tilstande |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Nogle gange (5–29 %) | I 1 tilstand |
| HDAC4histone deacetylase 4 | Nogle gange (5–29 %) | I 1 tilstand |
| HEXBhexosaminidase subunit beta | Nogle gange (5–29 %) | I 1 tilstand |
| HNF1BHNF1 homeobox B | Nogle gange (5–29 %) | I 1 tilstand |
| IRF2BPLinterferon regulatory factor 2 binding protein like | Nogle gange (5–29 %) | I 1 tilstand |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Nogle gange (5–29 %) | I 2 tilstande |
| KCNMA1potassium calcium-activated channel subfamily M alpha 1 | Nogle gange (5–29 %) | I 1 tilstand |
| KIF1Ckinesin family member 1C | Nogle gange (5–29 %) | I 2 tilstande |
| KIF26Akinesin family member 26A | Nogle gange (5–29 %) | I 1 tilstand |
| KIF7kinesin family member 7 | Nogle gange (5–29 %) | I 1 tilstand |
| LHX1LIM homeobox 1 | Nogle gange (5–29 %) | I 1 tilstand |
| LIASlipoic acid synthetase | Nogle gange (5–29 %) | I 1 tilstand |
| LYRM7LYR motif containing 7 | Nogle gange (5–29 %) | I 1 tilstand |
| MAFMAF bZIP transcription factor | Nogle gange (5–29 %) | I 1 tilstand |
| MECP2methyl-CpG binding protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Nogle gange (5–29 %) | I 1 tilstand |
| MED25mediator complex subunit 25 | Nogle gange (5–29 %) | I 2 tilstande |
| MED27mediator complex subunit 27 | Nogle gange (5–29 %) | I 1 tilstand |
| MMACHCmetabolism of cobalamin associated C | Nogle gange (5–29 %) | I 1 tilstand |
| MORC2MORC family CW-type zinc finger 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MYT1Lmyelin transcription factor 1 like | Nogle gange (5–29 %) | I 1 tilstand |
| NACC1nucleus accumbens associated 1 | Nogle gange (5–29 %) | I 2 tilstande |
| NALCNsodium leak channel, non-selective | Nogle gange (5–29 %) | I 1 tilstand |
| NECAP1NECAP endocytosis associated 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NFIXnuclear factor I X | Nogle gange (5–29 %) | I 2 tilstande |
| NKX6-2NK6 homeobox 2 | Nogle gange (5–29 %) | I 1 tilstand |
| NODALnodal growth differentiation factor | Nogle gange (5–29 %) | I 1 tilstand |
| NSD1nuclear receptor binding SET domain protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Nogle gange (5–29 %) | I 1 tilstand |
| OFD1OFD1 centriole and centriolar satellite protein | Nogle gange (5–29 %) | I 1 tilstand |
| OPLAH5-oxoprolinase, ATP-hydrolysing | Nogle gange (5–29 %) | I 1 tilstand |
| PACS2phosphofurin acidic cluster sorting protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Nogle gange (5–29 %) | I 1 tilstand |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Nogle gange (5–29 %) | I 1 tilstand |
| POLA1DNA polymerase alpha 1, catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Nogle gange (5–29 %) | I 2 tilstande |
| PRKNparkin RBR E3 ubiquitin protein ligase | Nogle gange (5–29 %) | I 1 tilstand |
| RALGAPA1Ral GTPase activating protein catalytic subunit alpha 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RFC4replication factor C subunit 4 | Nogle gange (5–29 %) | I 1 tilstand |
| RNU2-2RNA, U2 small nuclear 2 | Nogle gange (5–29 %) | I 1 tilstand |
| RNU7-1RNA, U7 small nuclear 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RRM1ribonucleotide reductase catalytic subunit M1 | Nogle gange (5–29 %) | I 1 tilstand |
| RTTNrotatin | Nogle gange (5–29 %) | I 1 tilstand |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC13A5solute carrier family 13 member 5 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC2A3solute carrier family 2 member 3 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC32A1solute carrier family 32 member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC38A3solute carrier family 38 member 3 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC39A8solute carrier family 39 member 8 | Nogle gange (5–29 %) | I 1 tilstand |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Nogle gange (5–29 %) | I 1 tilstand |
| STAG1STAG1 cohesin complex component | Nogle gange (5–29 %) | I 1 tilstand |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SYNJ1synaptojanin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SYT2synaptotagmin 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SZT2SZT2 subunit of KICSTOR complex | Nogle gange (5–29 %) | I 1 tilstand |
| TAF2TATA-box binding protein associated factor 2 | Nogle gange (5–29 %) | I 2 tilstande |
| TK2thymidine kinase 2 | Nogle gange (5–29 %) | I 2 tilstande |
| TOP3ADNA topoisomerase III alpha | Nogle gange (5–29 %) | I 1 tilstand |
| TP53RKTP53 regulating kinase | Nogle gange (5–29 %) | I 1 tilstand |
| TRAF7TNF receptor associated factor 7 | Nogle gange (5–29 %) | I 1 tilstand |
| TRAK1trafficking kinesin protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TSEN2tRNA splicing endonuclease subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| UFSP2UFM1 specific peptidase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| UNC13Aunc-13 homolog A | Nogle gange (5–29 %) | I 1 tilstand |
| UNC80unc-80 subunit of NALCN channel complex | Nogle gange (5–29 %) | I 1 tilstand |
| UPB1beta-ureidopropionase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| VPS4Avacuolar protein sorting 4 homolog A | Nogle gange (5–29 %) | I 1 tilstand |
| YIF1BYip1 interacting factor homolog B, membrane trafficking protein | Nogle gange (5–29 %) | I 1 tilstand |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Nogle gange (5–29 %) | I 1 tilstand |
| ZFXzinc finger protein X-linked | Nogle gange (5–29 %) | I 1 tilstand |
| ATAD1ATPase family AAA domain containing 1 | Sjældent (1–4%) | I 1 tilstand |
| CLCN4Cl-/H+ antiporter 4 | Sjældent (1–4%) | I 1 tilstand |
| CTCFCCCTC-binding factor | Sjældent (1–4%) | I 1 tilstand |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Sjældent (1–4%) | I 1 tilstand |
| GLE1GLE1 RNA export mediator | Sjældent (1–4%) | I 1 tilstand |
| PDHXpyruvate dehydrogenase complex component X | Sjældent (1–4%) | I 1 tilstand |
| ACY1aminoacylase 1 | Ikke registreret | I 1 tilstand |
| ADPRSADP-ribosylserine hydrolase | Ikke registreret | I 1 tilstand |
| AGAaspartylglucosaminidase | Ikke registreret | I 1 tilstand |
| AIMP2aminoacyl tRNA synthetase complex interacting multifunctional protein 2 | Ikke registreret | I 1 tilstand |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Ikke registreret | I 1 tilstand |
| ATN1atrophin 1 | Ikke registreret | I 1 tilstand |
| ATRXATRX chromatin remodeler | Ikke registreret | I 1 tilstand |
| AUHAU RNA binding methylglutaconyl-CoA hydratase | Ikke registreret | I 1 tilstand |
| B3GLCTbeta 3-glucosyltransferase | Ikke registreret | I 1 tilstand |
| BCS1LBCS1 ubiquinol-cytochrome c reductase complex chaperone | Ikke registreret | I 1 tilstand |
| C9orf72C9orf72-SMCR8 complex subunit | Ikke registreret | I 1 tilstand |
| CARS2cysteinyl-tRNA synthetase 2, mitochondrial | Ikke registreret | I 1 tilstand |
| CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin | Ikke registreret | I 1 tilstand |
| CLN6CLN6 transmembrane ER protein | Ikke registreret | I 1 tilstand |
| CNTNAP1contactin associated protein 1 | Ikke registreret | I 1 tilstand |
| COG4component of oligomeric golgi complex 4 | Ikke registreret | I 1 tilstand |
| CTDP1CTD phosphatase 1 | Ikke registreret | I 1 tilstand |
| CTNScystinosin, lysosomal cystine transporter | Ikke registreret | I 1 tilstand |
| DGUOKdeoxyguanosine kinase | Ikke registreret | I 1 tilstand |
| DHFRdihydrofolate reductase | Ikke registreret | I 1 tilstand |
| DMPKDM1 protein kinase | Ikke registreret | I 1 tilstand |
| DSEdermatan sulfate epimerase | Ikke registreret | I 1 tilstand |
| DYNC1I2dynein cytoplasmic 1 intermediate chain 2 | Ikke registreret | I 1 tilstand |
| EIF2AK2eukaryotic translation initiation factor 2 alpha kinase 2 | Ikke registreret | I 1 tilstand |
| EXOSC3exosome component 3 | Ikke registreret | I 1 tilstand |
| EXOSC9exosome component 9 | Ikke registreret | I 1 tilstand |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Ikke registreret | I 1 tilstand |
| FGF13fibroblast growth factor 13 | Ikke registreret | I 1 tilstand |
| FRRS1Lferric chelate reductase 1 like | Ikke registreret | I 1 tilstand |
| FUCA1alpha-L-fucosidase 1 | Ikke registreret | I 1 tilstand |
| GBA1glucosylceramidase beta 1 | Ikke registreret | I 1 tilstand |
| GJC2gap junction protein gamma 2 | Ikke registreret | I 1 tilstand |
| GLB1galactosidase beta 1 | Ikke registreret | I 1 tilstand |
| HEPACAMhepatic and glial cell adhesion molecule | Ikke registreret | I 1 tilstand |
| HRASHRas proto-oncogene, GTPase | Ikke registreret | I 1 tilstand |
| HTRA2HtrA serine peptidase 2 | Ikke registreret | I 1 tilstand |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Ikke registreret | I 1 tilstand |
| ITPAinosine triphosphatase | Ikke registreret | I 1 tilstand |
| KANK1KN motif and ankyrin repeat domains 1 | Ikke registreret | I 1 tilstand |
| KYkyphoscoliosis peptidase | Ikke registreret | I 1 tilstand |
| MFSD8major facilitator superfamily domain containing 8 | Ikke registreret | I 1 tilstand |
| MOCS1molybdenum cofactor synthesis 1 | Ikke registreret | I 1 tilstand |
| MOCS2molybdenum cofactor synthesis 2 | Ikke registreret | I 1 tilstand |
| MOGSmannosyl-oligosaccharide glucosidase | Ikke registreret | I 1 tilstand |
| MPDU1mannose-P-dolichol utilization defect 1 | Ikke registreret | I 1 tilstand |
| MTR5-methyltetrahydrofolate-homocysteine methyltransferase | Ikke registreret | I 1 tilstand |
| MTRR5-methyltetrahydrofolate-homocysteine methyltransferase reductase | Ikke registreret | I 1 tilstand |
| MVKmevalonate kinase | Ikke registreret | I 1 tilstand |
| NAGAalpha-N-acetylgalactosaminidase | Ikke registreret | I 1 tilstand |
| NRROSnegative regulator of reactive oxygen species | Ikke registreret | I 1 tilstand |
| NUP214nucleoporin 214 | Ikke registreret | I 1 tilstand |
| NUTM2B-AS1NUTM2B antisense RNA 1 | Ikke registreret | I 1 tilstand |
| PCCApropionyl-CoA carboxylase subunit alpha | Ikke registreret | I 1 tilstand |
| PCCBpropionyl-CoA carboxylase subunit beta | Ikke registreret | I 1 tilstand |
| PCK1phosphoenolpyruvate carboxykinase 1 | Ikke registreret | I 1 tilstand |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Ikke registreret | I 1 tilstand |
| PLK4polo like kinase 4 | Ikke registreret | I 1 tilstand |
| PPT1palmitoyl-protein thioesterase 1 | Ikke registreret | I 1 tilstand |
| PQBP1polyglutamine binding protein 1 | Ikke registreret | I 1 tilstand |
| PUF60poly(U) binding splicing factor 60 | Ikke registreret | I 1 tilstand |
| PYCR2pyrroline-5-carboxylate reductase 2 | Ikke registreret | I 1 tilstand |
| QARS1glutaminyl-tRNA synthetase 1 | Ikke registreret | I 1 tilstand |
| RAB23RAB23, member RAS oncogene family | Ikke registreret | I 1 tilstand |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Ikke registreret | I 1 tilstand |
| RARS2arginyl-tRNA synthetase 2, mitochondrial | Ikke registreret | I 1 tilstand |
| RNASEH2Aribonuclease H2 subunit A | Ikke registreret | I 1 tilstand |
| RNASEH2Bribonuclease H2 subunit B | Ikke registreret | I 1 tilstand |
| ROGDIrogdi atypical leucine zipper | Ikke registreret | I 1 tilstand |
| SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | Ikke registreret | I 1 tilstand |
| SERPINI1serpin family I member 1 | Ikke registreret | I 1 tilstand |
| SETBP1SET binding protein 1 | Ikke registreret | I 1 tilstand |
| SLC17A5solute carrier family 17 member 5 | Ikke registreret | I 1 tilstand |
| SLC1A4solute carrier family 1 member 4 | Ikke registreret | I 1 tilstand |
| SLC2A1solute carrier family 2 member 1 | Ikke registreret | I 1 tilstand |
| SMG9SMG9 nonsense mediated mRNA decay factor | Ikke registreret | I 1 tilstand |
| SNORD118small nucleolar RNA, C/D box 118 | Ikke registreret | I 1 tilstand |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Ikke registreret | I 1 tilstand |
| STAMBPSTAM binding protein | Ikke registreret | I 1 tilstand |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Ikke registreret | I 1 tilstand |
| SUMF1sulfatase modifying factor 1 | Ikke registreret | I 1 tilstand |
| TBCKTBC1 domain containing kinase | Ikke registreret | I 1 tilstand |
| TCTN3tectonic family member 3 | Ikke registreret | I 1 tilstand |
| TOE1target of EGR1, exonuclease | Ikke registreret | I 1 tilstand |
| TPP1tripeptidyl peptidase 1 | Ikke registreret | I 1 tilstand |
| TREM2triggering receptor expressed on myeloid cells 2 | Ikke registreret | I 1 tilstand |
| TREX1three prime repair exonuclease 1 | Ikke registreret | I 1 tilstand |
| TRIT1tRNA isopentenyltransferase 1 | Ikke registreret | I 1 tilstand |
| TTC19tetratricopeptide repeat domain 19 | Ikke registreret | I 1 tilstand |
| TUBGCP6tubulin gamma complex component 6 | Ikke registreret | I 1 tilstand |
| TWNKtwinkle mtDNA helicase | Ikke registreret | I 1 tilstand |
| TYROBPtransmembrane immune signaling adaptor TYROBP | Ikke registreret | I 1 tilstand |
| UFM1ubiquitin fold modifier 1 | Ikke registreret | I 1 tilstand |
| WFS1wolframin ER transmembrane glycoprotein | Ikke registreret | I 1 tilstand |
| WIPI2WD repeat domain, phosphoinositide interacting 2 | Ikke registreret | I 1 tilstand |
| WNK3WNK lysine deficient protein kinase 3 | Ikke registreret | I 1 tilstand |
| ZC4H2zinc finger C4H2-type containing | Ikke registreret | I 1 tilstand |
| ZMIZ1zinc finger MIZ-type containing 1 | Ikke registreret | I 1 tilstand |
| ZNF335zinc finger protein 335 | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
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Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
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