Træk
Encephalopathy
Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state.
Resumé
- Kropssystem
- Abnormality of the nervous system
ReferencegenomGRCh38hg38
Positioner på gen- og variantsider følger dette valg i denne browser.
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Bestil min Genome Test243 gener knyttet til Encephalopathy
Ændringer i disse gener forårsager sjældne tilstande, hvor Encephalopathy 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 |
|---|---|---|
| ATAD3AATPase family AAA domain containing 3A | Altid | I 1 tilstand |
| ATP5F1AATP synthase F1 subunit alpha | Altid | I 3 tilstande |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Altid | I 1 tilstand |
| COQ5coenzyme Q5, methyltransferase | Altid | I 1 tilstand |
| COQ9coenzyme Q9 | Altid | I 1 tilstand |
| COX16cytochrome c oxidase assembly factor COX16 | Altid | I 1 tilstand |
| CRNKL1crooked neck pre-mRNA splicing factor 1 | Altid | I 1 tilstand |
| DNM1Ldynamin 1L | Altid | I 1 tilstand |
| DSTdystonin | Altid | I 1 tilstand |
| EPG5ectopic P-granules 5 autophagy tethering factor | Altid | I 1 tilstand |
| FADDFas associated via death domain | Altid | I 2 tilstande |
| FBXL4F-box and leucine rich repeat protein 4 | Altid | I 1 tilstand |
| FDXRferredoxin reductase | Altid | I 1 tilstand |
| GLYCTKglycerate kinase | Altid | I 1 tilstand |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Altid | I 1 tilstand |
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Altid | I 1 tilstand |
| JKAMPJNK1/MAPK8 associated membrane protein | Altid | I 1 tilstand |
| KYNUkynureninase | Altid | I 1 tilstand |
| LIPT2lipoyl(octanoyl) transferase 2 | Altid | I 1 tilstand |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Altid | I 2 tilstande |
| MECP2methyl-CpG binding protein 2 | Altid | I 2 tilstande |
| MMADHCmetabolism of cobalamin associated D | Altid | I 1 tilstand |
| NADK2NAD kinase 2, mitochondrial | Altid | I 1 tilstand |
| NAXDNAD(P)HX dehydratase | Altid | I 1 tilstand |
| NAXENAD(P)HX epimerase | Altid | I 1 tilstand |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Altid | I 2 tilstande |
| NDUFB3NADH:ubiquinone oxidoreductase subunit B3 | Altid | I 2 tilstande |
| NDUFV2NADH:ubiquinone oxidoreductase core subunit V2 | Altid | I 2 tilstande |
| OPA1OPA1 mitochondrial dynamin like GTPase | Altid | I 1 tilstand |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Altid | I 1 tilstand |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Altid | I 1 tilstand |
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Altid | I 1 tilstand |
| PTPN23protein tyrosine phosphatase non-receptor type 23 | Altid | I 1 tilstand |
| RFC4replication factor C subunit 4 | Altid | I 1 tilstand |
| RNH1ribonuclease/angiogenin inhibitor 1 | Altid | I 1 tilstand |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Altid | I 1 tilstand |
| SCO2synthesis of cytochrome C oxidase 2 | Altid | I 1 tilstand |
| SNAPINSNAP associated protein | Altid | I 1 tilstand |
| SPOUT1SPOUT domain containing methyltransferase 1 | Altid | I 1 tilstand |
| THAP11THAP domain containing 11 | Altid | I 1 tilstand |
Vis 203 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| TRAPPC12trafficking protein particle complex subunit 12 | Altid | I 1 tilstand |
| TWNKtwinkle mtDNA helicase | Altid | I 1 tilstand |
| AARS1alanyl-tRNA synthetase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| ACTL6Bactin like 6B | Meget ofte (80–99 %) | I 1 tilstand |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Meget ofte (80–99 %) | I 1 tilstand |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Meget ofte (80–99 %) | I 1 tilstand |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Meget ofte (80–99 %) | I 2 tilstande |
| ATP6V1AATPase H+ transporting V1 subunit A | Meget ofte (80–99 %) | I 1 tilstand |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Meget ofte (80–99 %) | I 2 tilstande |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Meget ofte (80–99 %) | I 1 tilstand |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Meget ofte (80–99 %) | I 1 tilstand |
| CDK19cyclin dependent kinase 19 | Meget ofte (80–99 %) | I 1 tilstand |
| CELF2CUGBP Elav-like family member 2 | Meget ofte (80–99 %) | I 1 tilstand |
| CHD2chromodomain helicase DNA binding protein 2 | Meget ofte (80–99 %) | I 1 tilstand |
| CLTCclathrin heavy chain | Meget ofte (80–99 %) | I 1 tilstand |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Meget ofte (80–99 %) | I 1 tilstand |
| CUX2cut like homeobox 2 | Meget ofte (80–99 %) | I 1 tilstand |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Meget ofte (80–99 %) | I 1 tilstand |
| DALRD3DALR anticodon binding domain containing 3 | Meget ofte (80–99 %) | I 1 tilstand |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Meget ofte (80–99 %) | I 1 tilstand |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Meget ofte (80–99 %) | I 1 tilstand |
| DNM1dynamin 1 | Meget ofte (80–99 %) | I 2 tilstande |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Meget ofte (80–99 %) | I 1 tilstand |
| ETHE1ETHE1 persulfide dioxygenase | Meget ofte (80–99 %) | I 2 tilstande |
| FBXO28F-box protein 28 | Meget ofte (80–99 %) | I 1 tilstand |
| FGF12fibroblast growth factor 12 | Meget ofte (80–99 %) | I 1 tilstand |
| FOXG1forkhead box G1 | Meget ofte (80–99 %) | I 1 tilstand |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Meget ofte (80–99 %) | I 1 tilstand |
| FZR1fizzy and cell division cycle 20 related 1 | Meget ofte (80–99 %) | I 1 tilstand |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Meget ofte (80–99 %) | I 1 tilstand |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Meget ofte (80–99 %) | I 1 tilstand |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Meget ofte (80–99 %) | I 1 tilstand |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Meget ofte (80–99 %) | I 1 tilstand |
| GABRB3gamma-aminobutyric acid type A receptor subunit beta3 | Meget ofte (80–99 %) | I 1 tilstand |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Meget ofte (80–99 %) | I 1 tilstand |
| GBA1glucosylceramidase beta 1 | Meget ofte (80–99 %) | I 2 tilstande |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Meget ofte (80–99 %) | I 1 tilstand |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Meget ofte (80–99 %) | I 1 tilstand |
| HMGCS23-hydroxy-3-methylglutaryl-CoA synthase 2 | Meget ofte (80–99 %) | I 1 tilstand |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Meget ofte (80–99 %) | I 1 tilstand |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Meget ofte (80–99 %) | I 1 tilstand |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Meget ofte (80–99 %) | I 1 tilstand |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Meget ofte (80–99 %) | I 1 tilstand |
| MAPK10mitogen-activated protein kinase 10 | Meget ofte (80–99 %) | I 1 tilstand |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Meget ofte (80–99 %) | I 3 tilstande |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Meget ofte (80–99 %) | I 1 tilstand |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFA11NADH:ubiquinone oxidoreductase subunit A11 | Meget ofte (80–99 %) | I 2 tilstande |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Meget ofte (80–99 %) | I 2 tilstande |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFAF1NADH:ubiquinone oxidoreductase complex assembly factor 1 | Meget ofte (80–99 %) | I 2 tilstande |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Meget ofte (80–99 %) | I 2 tilstande |
| NDUFAF3NADH:ubiquinone oxidoreductase complex assembly factor 3 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFAF8NADH:ubiquinone oxidoreductase complex assembly factor 8 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFB10NADH:ubiquinone oxidoreductase subunit B10 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFB9NADH:ubiquinone oxidoreductase subunit B9 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFS3NADH:ubiquinone oxidoreductase core subunit S3 | Meget ofte (80–99 %) | I 2 tilstande |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFS6NADH:ubiquinone oxidoreductase subunit S6 | Meget ofte (80–99 %) | I 2 tilstande |
| NDUFS7NADH:ubiquinone oxidoreductase core subunit S7 | Meget ofte (80–99 %) | I 2 tilstande |
| NDUFS8NADH:ubiquinone oxidoreductase core subunit S8 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFV1NADH:ubiquinone oxidoreductase core subunit V1 | Meget ofte (80–99 %) | I 1 tilstand |
| NECAP1NECAP endocytosis associated 1 | Meget ofte (80–99 %) | I 1 tilstand |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Meget ofte (80–99 %) | I 1 tilstand |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Meget ofte (80–99 %) | I 1 tilstand |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Meget ofte (80–99 %) | I 1 tilstand |
| PACS2phosphofurin acidic cluster sorting protein 2 | Meget ofte (80–99 %) | I 1 tilstand |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Meget ofte (80–99 %) | I 1 tilstand |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Meget ofte (80–99 %) | I 1 tilstand |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Meget ofte (80–99 %) | I 2 tilstande |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Meget ofte (80–99 %) | I 1 tilstand |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Meget ofte (80–99 %) | I 1 tilstand |
| SLC13A5solute carrier family 13 member 5 | Meget ofte (80–99 %) | I 1 tilstand |
| SLC1A2solute carrier family 1 member 2 | Meget ofte (80–99 %) | I 1 tilstand |
| SLC25A20solute carrier family 25 member 20 | Meget ofte (80–99 %) | I 1 tilstand |
| SLC2A1solute carrier family 2 member 1 | Meget ofte (80–99 %) | I 1 tilstand |
| SLC38A3solute carrier family 38 member 3 | Meget ofte (80–99 %) | I 1 tilstand |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| SYNJ1synaptojanin 1 | Meget ofte (80–99 %) | I 1 tilstand |
| SZT2SZT2 subunit of KICSTOR complex | Meget ofte (80–99 %) | I 1 tilstand |
| TIMM50translocase of inner mitochondrial membrane 50 | Meget ofte (80–99 %) | I 1 tilstand |
| TIMMDC1translocase of inner mitochondrial membrane domain containing 1 | Meget ofte (80–99 %) | I 1 tilstand |
| TMEM126Btransmembrane protein 126B | Meget ofte (80–99 %) | I 1 tilstand |
| TRAK1trafficking kinesin protein 1 | Meget ofte (80–99 %) | I 2 tilstande |
| UBA5ubiquitin like modifier activating enzyme 5 | Meget ofte (80–99 %) | I 1 tilstand |
| UFSP2UFM1 specific peptidase 2 | Meget ofte (80–99 %) | I 1 tilstand |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Meget ofte (80–99 %) | I 1 tilstand |
| ACAD9acyl-CoA dehydrogenase family member 9 | Ofte (30–79 %) | I 2 tilstande |
| ACY1aminoacylase 1 | Ofte (30–79 %) | I 1 tilstand |
| AMACRalpha-methylacyl-CoA racemase | Ofte (30–79 %) | I 1 tilstand |
| ATG7autophagy related 7 | Ofte (30–79 %) | I 1 tilstand |
| ATP5F1DATP synthase F1 subunit delta | Ofte (30–79 %) | I 2 tilstande |
| ATP5F1EATP synthase F1 subunit epsilon | Ofte (30–79 %) | I 1 tilstand |
| ATP5MKATP synthase membrane subunit k | Ofte (30–79 %) | I 1 tilstand |
| ATP5POATP synthase peripheral stalk subunit OSCP | Ofte (30–79 %) | I 1 tilstand |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Ofte (30–79 %) | I 1 tilstand |
| CLPBClpB family mitochondrial disaggregase | Ofte (30–79 %) | I 1 tilstand |
| CYC1cytochrome c1 | Ofte (30–79 %) | I 1 tilstand |
| DBR1debranching RNA lariats 1 | Ofte (30–79 %) | I 1 tilstand |
| FHfumarate hydratase | Ofte (30–79 %) | I 1 tilstand |
| GCDHglutaryl-CoA dehydrogenase | Ofte (30–79 %) | I 1 tilstand |
| GFM1G elongation factor mitochondrial 1 | Ofte (30–79 %) | I 1 tilstand |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Ofte (30–79 %) | I 1 tilstand |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Ofte (30–79 %) | I 1 tilstand |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Ofte (30–79 %) | I 2 tilstande |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Ofte (30–79 %) | I 2 tilstande |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Ofte (30–79 %) | I 2 tilstande |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Ofte (30–79 %) | I 1 tilstand |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Ofte (30–79 %) | I 2 tilstande |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Ofte (30–79 %) | I 2 tilstande |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Ofte (30–79 %) | I 2 tilstande |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Ofte (30–79 %) | I 2 tilstande |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Ofte (30–79 %) | I 2 tilstande |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Ofte (30–79 %) | I 2 tilstande |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Ofte (30–79 %) | I 2 tilstande |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Ofte (30–79 %) | I 2 tilstande |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Ofte (30–79 %) | I 2 tilstande |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Ofte (30–79 %) | I 2 tilstande |
| MTO1mitochondrial tRNA translation optimization 1 | Ofte (30–79 %) | I 1 tilstand |
| NDUFA2NADH:ubiquinone oxidoreductase subunit A2 | Ofte (30–79 %) | I 1 tilstand |
| NFU1NFU1 iron-sulfur cluster scaffold | Ofte (30–79 %) | I 2 tilstande |
| OTCornithine transcarbamylase | Ofte (30–79 %) | I 1 tilstand |
| POLGDNA polymerase gamma, catalytic subunit | Ofte (30–79 %) | I 1 tilstand |
| RNU2-2RNA, U2 small nuclear 2 | Ofte (30–79 %) | I 1 tilstand |
| SERAC1serine active site containing 1 | Ofte (30–79 %) | I 2 tilstande |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Ofte (30–79 %) | I 2 tilstande |
| TSFMTs translation elongation factor, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| ACSF3acyl-CoA synthetase family member 3 | Nogle gange (5–29 %) | I 1 tilstand |
| ALDH4A1aldehyde dehydrogenase 4 family member A1 | Nogle gange (5–29 %) | I 1 tilstand |
| CA5Acarbonic anhydrase 5A | Nogle gange (5–29 %) | I 1 tilstand |
| D2HGDHD-2-hydroxyglutarate dehydrogenase | Nogle gange (5–29 %) | I 1 tilstand |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Nogle gange (5–29 %) | I 1 tilstand |
| GALCgalactosylceramidase | Nogle gange (5–29 %) | I 1 tilstand |
| GALTgalactose-1-phosphate uridylyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| GRIK2glutamate ionotropic receptor kainate type subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| HIBCH3-hydroxyisobutyryl-CoA hydrolase | Nogle gange (5–29 %) | I 1 tilstand |
| HIVEP2HIVEP zinc finger 2 | Nogle gange (5–29 %) | I 1 tilstand |
| HMGCL3-hydroxy-3-methylglutaryl-CoA lyase | Nogle gange (5–29 %) | I 2 tilstande |
| IDH2isocitrate dehydrogenase (NADP(+)) 2 | Nogle gange (5–29 %) | I 1 tilstand |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Nogle gange (5–29 %) | I 1 tilstand |
| LRPPRCleucine rich pentatricopeptide repeat containing | Nogle gange (5–29 %) | I 1 tilstand |
| MMACHCmetabolism of cobalamin associated C | Nogle gange (5–29 %) | I 1 tilstand |
| MPC1mitochondrial pyruvate carrier 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MPV17mitochondrial inner membrane protein MPV17 | Nogle gange (5–29 %) | I 1 tilstand |
| NOTCH3notch receptor 3 | Nogle gange (5–29 %) | I 1 tilstand |
| PSAPprosaposin | Nogle gange (5–29 %) | I 1 tilstand |
| SLC52A3solute carrier family 52 member 3 | Nogle gange (5–29 %) | I 1 tilstand |
| SMC5structural maintenance of chromosomes 5 | Nogle gange (5–29 %) | I 1 tilstand |
| STAT2signal transducer and activator of transcription 2 | Nogle gange (5–29 %) | I 1 tilstand |
| TPK1thiamin pyrophosphokinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GPR35G protein-coupled receptor 35 | Sjældent (1–4%) | I 1 tilstand |
| MST1macrophage stimulating 1 | Sjældent (1–4%) | I 1 tilstand |
| MTHFRmethylenetetrahydrofolate reductase | Sjældent (1–4%) | I 1 tilstand |
| NAGSN-acetylglutamate synthase | Sjældent (1–4%) | I 1 tilstand |
| SEMA4Dsemaphorin 4D | Sjældent (1–4%) | I 1 tilstand |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Sjældent (1–4%) | I 1 tilstand |
| TCF4transcription factor 4 | Sjældent (1–4%) | I 1 tilstand |
| ACOX1acyl-CoA oxidase 1 | Ikke registreret | I 1 tilstand |
| APTXaprataxin | Ikke registreret | I 1 tilstand |
| ASNSasparagine synthetase (glutamine-hydrolyzing) | Ikke registreret | I 1 tilstand |
| ATAD1ATPase family AAA domain containing 1 | Ikke registreret | I 1 tilstand |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Ikke registreret | I 1 tilstand |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Ikke registreret | I 1 tilstand |
| COQ2coenzyme Q2, polyprenyltransferase | Ikke registreret | I 1 tilstand |
| COX15cytochrome c oxidase assembly factor COX15 | Ikke registreret | I 1 tilstand |
| CPT2carnitine palmitoyltransferase 2 | Ikke registreret | I 1 tilstand |
| DGUOKdeoxyguanosine kinase | Ikke registreret | I 1 tilstand |
| DLDdihydrolipoamide dehydrogenase | Ikke registreret | I 1 tilstand |
| GLDCglycine decarboxylase | Ikke registreret | I 1 tilstand |
| GLULglutamate-ammonia ligase | Ikke registreret | I 1 tilstand |
| GPT2glutamic--pyruvic transaminase 2 | Ikke registreret | I 1 tilstand |
| IBA57iron-sulfur cluster assembly factor IBA57 | Ikke registreret | I 1 tilstand |
| ITPAinosine triphosphatase | Ikke registreret | I 1 tilstand |
| LIASlipoic acid synthetase | Ikke registreret | I 1 tilstand |
| LYRM7LYR motif containing 7 | Ikke registreret | I 1 tilstand |
| MT-CYBmitochondrially encoded cytochrome b | Ikke registreret | I 1 tilstand |
| MT-TCmitochondrially encoded tRNA-Cys (UGU/C) | Ikke registreret | I 1 tilstand |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Ikke registreret | I 1 tilstand |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Ikke registreret | I 1 tilstand |
| PNPOpyridoxamine 5'-phosphate oxidase | Ikke registreret | I 1 tilstand |
| PRNPprion protein (Kanno blood group) | Ikke registreret | I 1 tilstand |
| RANBP2RAN binding protein 2 | Ikke registreret | I 1 tilstand |
| RNASEH2Bribonuclease H2 subunit B | Ikke registreret | I 1 tilstand |
| RNASEH2Cribonuclease H2 subunit C | Ikke registreret | I 1 tilstand |
| SERPINI1serpin family I member 1 | Ikke registreret | I 1 tilstand |
| SIK1salt inducible kinase 1 | Ikke registreret | I 1 tilstand |
| SLC19A3solute carrier family 19 member 3 | Ikke registreret | I 1 tilstand |
| SLC22A5solute carrier family 22 member 5 | Ikke registreret | I 1 tilstand |
| SLC25A1solute carrier family 25 member 1 | Ikke registreret | I 1 tilstand |
| SLC35A1solute carrier family 35 member A1 | Ikke registreret | I 1 tilstand |
| SLC6A9solute carrier family 6 member 9 | Ikke registreret | I 1 tilstand |
| TBCDtubulin folding cofactor D | Ikke registreret | I 1 tilstand |
| TBCEtubulin folding cofactor E | Ikke registreret | I 1 tilstand |
| TBCKTBC1 domain containing kinase | Ikke registreret | I 1 tilstand |
| TGFB1transforming growth factor beta 1 | Ikke registreret | I 1 tilstand |
| TMEM70transmembrane protein 70 | Ikke registreret | I 1 tilstand |
| TUFMTu translation elongation factor, mitochondrial | Ikke registreret | I 1 tilstand |
| UGT1A1UDP glucuronosyltransferase family 1 member A1 | 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.
Snævrere træk
- Epileptic encephalopathy134 gener
- Hepatic encephalopathy24 gener
- Acute encephalopathy15 gener
- Progressive brain disease12 gener
- Infantile encephalopathy7 gener
- Hypoglycemic encephalopathy3 gener
- Mitochondrial encephalopathy3 gener
- Nonprogressive encephalopathy3 gener
- Congenital encephalopathy1 gen
- Recurrent encephalopathy1 gen
Bredere træk
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.
Én test. Svar for hele livet.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger