Piirre
Encephalopathy
Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state.
Yhteenveto
- Elimistön järjestelmä
- Abnormality of the nervous system
ViitegenomiGRCh38hg38
Geenien ja varianttien sivujen sijainnit noudattavat tätä valintaa tässä selaimessa.
Read the genes linked to Encephalopathy, and the rest of your genome, with one test.
Alkaen 449 $Ilmainen toimitus · Tulokset 6–8 viikossa
Tilaa Genome Test243 geeniä, jotka liittyvät piirteeseen Encephalopathy
Näiden geenien muutokset aiheuttavat harvinaisia sairauksia, joissa Encephalopathy esiintyy. Useimmilla, joilla on tämä piirre, ei ole mitään näistä sairauksista, eikä tämän listan geeni kerro mitään kenenkään omasta genomista.
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| ATAD3AATPase family AAA domain containing 3A | Aina | 1 sairaudessa |
| ATP5F1AATP synthase F1 subunit alpha | Aina | 3 sairaudessa |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Aina | 1 sairaudessa |
| COQ5coenzyme Q5, methyltransferase | Aina | 1 sairaudessa |
| COQ9coenzyme Q9 | Aina | 1 sairaudessa |
| COX16cytochrome c oxidase assembly factor COX16 | Aina | 1 sairaudessa |
| CRNKL1crooked neck pre-mRNA splicing factor 1 | Aina | 1 sairaudessa |
| DNM1Ldynamin 1L | Aina | 1 sairaudessa |
| DSTdystonin | Aina | 1 sairaudessa |
| EPG5ectopic P-granules 5 autophagy tethering factor | Aina | 1 sairaudessa |
| FADDFas associated via death domain | Aina | 2 sairaudessa |
| FBXL4F-box and leucine rich repeat protein 4 | Aina | 1 sairaudessa |
| FDXRferredoxin reductase | Aina | 1 sairaudessa |
| GLYCTKglycerate kinase | Aina | 1 sairaudessa |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Aina | 1 sairaudessa |
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Aina | 1 sairaudessa |
| JKAMPJNK1/MAPK8 associated membrane protein | Aina | 1 sairaudessa |
| KYNUkynureninase | Aina | 1 sairaudessa |
| LIPT2lipoyl(octanoyl) transferase 2 | Aina | 1 sairaudessa |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Aina | 2 sairaudessa |
| MECP2methyl-CpG binding protein 2 | Aina | 2 sairaudessa |
| MMADHCmetabolism of cobalamin associated D | Aina | 1 sairaudessa |
| NADK2NAD kinase 2, mitochondrial | Aina | 1 sairaudessa |
| NAXDNAD(P)HX dehydratase | Aina | 1 sairaudessa |
| NAXENAD(P)HX epimerase | Aina | 1 sairaudessa |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Aina | 2 sairaudessa |
| NDUFB3NADH:ubiquinone oxidoreductase subunit B3 | Aina | 2 sairaudessa |
| NDUFV2NADH:ubiquinone oxidoreductase core subunit V2 | Aina | 2 sairaudessa |
| OPA1OPA1 mitochondrial dynamin like GTPase | Aina | 1 sairaudessa |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Aina | 1 sairaudessa |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Aina | 1 sairaudessa |
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Aina | 1 sairaudessa |
| PTPN23protein tyrosine phosphatase non-receptor type 23 | Aina | 1 sairaudessa |
| RFC4replication factor C subunit 4 | Aina | 1 sairaudessa |
| RNH1ribonuclease/angiogenin inhibitor 1 | Aina | 1 sairaudessa |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Aina | 1 sairaudessa |
| SCO2synthesis of cytochrome C oxidase 2 | Aina | 1 sairaudessa |
| SNAPINSNAP associated protein | Aina | 1 sairaudessa |
| SPOUT1SPOUT domain containing methyltransferase 1 | Aina | 1 sairaudessa |
| THAP11THAP domain containing 11 | Aina | 1 sairaudessa |
Näytä 203 geeniä lisää
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| TRAPPC12trafficking protein particle complex subunit 12 | Aina | 1 sairaudessa |
| TWNKtwinkle mtDNA helicase | Aina | 1 sairaudessa |
| AARS1alanyl-tRNA synthetase 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| ACTL6Bactin like 6B | Hyvin usein (80–99%) | 1 sairaudessa |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Hyvin usein (80–99%) | 2 sairaudessa |
| ATP6V1AATPase H+ transporting V1 subunit A | Hyvin usein (80–99%) | 1 sairaudessa |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Hyvin usein (80–99%) | 2 sairaudessa |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Hyvin usein (80–99%) | 1 sairaudessa |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| CDK19cyclin dependent kinase 19 | Hyvin usein (80–99%) | 1 sairaudessa |
| CELF2CUGBP Elav-like family member 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| CHD2chromodomain helicase DNA binding protein 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| CLTCclathrin heavy chain | Hyvin usein (80–99%) | 1 sairaudessa |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| CUX2cut like homeobox 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| DALRD3DALR anticodon binding domain containing 3 | Hyvin usein (80–99%) | 1 sairaudessa |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Hyvin usein (80–99%) | 1 sairaudessa |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Hyvin usein (80–99%) | 1 sairaudessa |
| DNM1dynamin 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| ETHE1ETHE1 persulfide dioxygenase | Hyvin usein (80–99%) | 2 sairaudessa |
| FBXO28F-box protein 28 | Hyvin usein (80–99%) | 1 sairaudessa |
| FGF12fibroblast growth factor 12 | Hyvin usein (80–99%) | 1 sairaudessa |
| FOXG1forkhead box G1 | Hyvin usein (80–99%) | 1 sairaudessa |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| FZR1fizzy and cell division cycle 20 related 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Hyvin usein (80–99%) | 1 sairaudessa |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Hyvin usein (80–99%) | 1 sairaudessa |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Hyvin usein (80–99%) | 1 sairaudessa |
| GABRB3gamma-aminobutyric acid type A receptor subunit beta3 | Hyvin usein (80–99%) | 1 sairaudessa |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Hyvin usein (80–99%) | 1 sairaudessa |
| GBA1glucosylceramidase beta 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Hyvin usein (80–99%) | 1 sairaudessa |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| HMGCS23-hydroxy-3-methylglutaryl-CoA synthase 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Hyvin usein (80–99%) | 1 sairaudessa |
| MAPK10mitogen-activated protein kinase 10 | Hyvin usein (80–99%) | 1 sairaudessa |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Hyvin usein (80–99%) | 3 sairaudessa |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Hyvin usein (80–99%) | 1 sairaudessa |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Hyvin usein (80–99%) | 1 sairaudessa |
| NDUFA11NADH:ubiquinone oxidoreductase subunit A11 | Hyvin usein (80–99%) | 2 sairaudessa |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Hyvin usein (80–99%) | 2 sairaudessa |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Hyvin usein (80–99%) | 1 sairaudessa |
| NDUFAF1NADH:ubiquinone oxidoreductase complex assembly factor 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Hyvin usein (80–99%) | 2 sairaudessa |
| NDUFAF3NADH:ubiquinone oxidoreductase complex assembly factor 3 | Hyvin usein (80–99%) | 1 sairaudessa |
| NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5 | Hyvin usein (80–99%) | 1 sairaudessa |
| NDUFAF8NADH:ubiquinone oxidoreductase complex assembly factor 8 | Hyvin usein (80–99%) | 1 sairaudessa |
| NDUFB10NADH:ubiquinone oxidoreductase subunit B10 | Hyvin usein (80–99%) | 1 sairaudessa |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Hyvin usein (80–99%) | 1 sairaudessa |
| NDUFB9NADH:ubiquinone oxidoreductase subunit B9 | Hyvin usein (80–99%) | 1 sairaudessa |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Hyvin usein (80–99%) | 1 sairaudessa |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Hyvin usein (80–99%) | 1 sairaudessa |
| NDUFS3NADH:ubiquinone oxidoreductase core subunit S3 | Hyvin usein (80–99%) | 2 sairaudessa |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Hyvin usein (80–99%) | 1 sairaudessa |
| NDUFS6NADH:ubiquinone oxidoreductase subunit S6 | Hyvin usein (80–99%) | 2 sairaudessa |
| NDUFS7NADH:ubiquinone oxidoreductase core subunit S7 | Hyvin usein (80–99%) | 2 sairaudessa |
| NDUFS8NADH:ubiquinone oxidoreductase core subunit S8 | Hyvin usein (80–99%) | 1 sairaudessa |
| NDUFV1NADH:ubiquinone oxidoreductase core subunit V1 | Hyvin usein (80–99%) | 1 sairaudessa |
| NECAP1NECAP endocytosis associated 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Hyvin usein (80–99%) | 1 sairaudessa |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Hyvin usein (80–99%) | 1 sairaudessa |
| PACS2phosphofurin acidic cluster sorting protein 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Hyvin usein (80–99%) | 1 sairaudessa |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Hyvin usein (80–99%) | 1 sairaudessa |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Hyvin usein (80–99%) | 1 sairaudessa |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Hyvin usein (80–99%) | 1 sairaudessa |
| SLC13A5solute carrier family 13 member 5 | Hyvin usein (80–99%) | 1 sairaudessa |
| SLC1A2solute carrier family 1 member 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| SLC25A20solute carrier family 25 member 20 | Hyvin usein (80–99%) | 1 sairaudessa |
| SLC2A1solute carrier family 2 member 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| SLC38A3solute carrier family 38 member 3 | Hyvin usein (80–99%) | 1 sairaudessa |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| SYNJ1synaptojanin 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| SZT2SZT2 subunit of KICSTOR complex | Hyvin usein (80–99%) | 1 sairaudessa |
| TIMM50translocase of inner mitochondrial membrane 50 | Hyvin usein (80–99%) | 1 sairaudessa |
| TIMMDC1translocase of inner mitochondrial membrane domain containing 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| TMEM126Btransmembrane protein 126B | Hyvin usein (80–99%) | 1 sairaudessa |
| TRAK1trafficking kinesin protein 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| UBA5ubiquitin like modifier activating enzyme 5 | Hyvin usein (80–99%) | 1 sairaudessa |
| UFSP2UFM1 specific peptidase 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Hyvin usein (80–99%) | 1 sairaudessa |
| ACAD9acyl-CoA dehydrogenase family member 9 | Usein (30–79%) | 2 sairaudessa |
| ACY1aminoacylase 1 | Usein (30–79%) | 1 sairaudessa |
| AMACRalpha-methylacyl-CoA racemase | Usein (30–79%) | 1 sairaudessa |
| ATG7autophagy related 7 | Usein (30–79%) | 1 sairaudessa |
| ATP5F1DATP synthase F1 subunit delta | Usein (30–79%) | 2 sairaudessa |
| ATP5F1EATP synthase F1 subunit epsilon | Usein (30–79%) | 1 sairaudessa |
| ATP5MKATP synthase membrane subunit k | Usein (30–79%) | 1 sairaudessa |
| ATP5POATP synthase peripheral stalk subunit OSCP | Usein (30–79%) | 1 sairaudessa |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Usein (30–79%) | 1 sairaudessa |
| CLPBClpB family mitochondrial disaggregase | Usein (30–79%) | 1 sairaudessa |
| CYC1cytochrome c1 | Usein (30–79%) | 1 sairaudessa |
| DBR1debranching RNA lariats 1 | Usein (30–79%) | 1 sairaudessa |
| FHfumarate hydratase | Usein (30–79%) | 1 sairaudessa |
| GCDHglutaryl-CoA dehydrogenase | Usein (30–79%) | 1 sairaudessa |
| GFM1G elongation factor mitochondrial 1 | Usein (30–79%) | 1 sairaudessa |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Usein (30–79%) | 1 sairaudessa |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Usein (30–79%) | 1 sairaudessa |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Usein (30–79%) | 2 sairaudessa |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Usein (30–79%) | 2 sairaudessa |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Usein (30–79%) | 2 sairaudessa |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Usein (30–79%) | 1 sairaudessa |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Usein (30–79%) | 2 sairaudessa |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Usein (30–79%) | 2 sairaudessa |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Usein (30–79%) | 2 sairaudessa |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Usein (30–79%) | 2 sairaudessa |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Usein (30–79%) | 2 sairaudessa |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Usein (30–79%) | 2 sairaudessa |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Usein (30–79%) | 2 sairaudessa |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Usein (30–79%) | 2 sairaudessa |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Usein (30–79%) | 2 sairaudessa |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Usein (30–79%) | 2 sairaudessa |
| MTO1mitochondrial tRNA translation optimization 1 | Usein (30–79%) | 1 sairaudessa |
| NDUFA2NADH:ubiquinone oxidoreductase subunit A2 | Usein (30–79%) | 1 sairaudessa |
| NFU1NFU1 iron-sulfur cluster scaffold | Usein (30–79%) | 2 sairaudessa |
| OTCornithine transcarbamylase | Usein (30–79%) | 1 sairaudessa |
| POLGDNA polymerase gamma, catalytic subunit | Usein (30–79%) | 1 sairaudessa |
| RNU2-2RNA, U2 small nuclear 2 | Usein (30–79%) | 1 sairaudessa |
| SERAC1serine active site containing 1 | Usein (30–79%) | 2 sairaudessa |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Usein (30–79%) | 2 sairaudessa |
| TSFMTs translation elongation factor, mitochondrial | Usein (30–79%) | 1 sairaudessa |
| ACSF3acyl-CoA synthetase family member 3 | Joskus (5–29%) | 1 sairaudessa |
| ALDH4A1aldehyde dehydrogenase 4 family member A1 | Joskus (5–29%) | 1 sairaudessa |
| CA5Acarbonic anhydrase 5A | Joskus (5–29%) | 1 sairaudessa |
| D2HGDHD-2-hydroxyglutarate dehydrogenase | Joskus (5–29%) | 1 sairaudessa |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Joskus (5–29%) | 1 sairaudessa |
| GALCgalactosylceramidase | Joskus (5–29%) | 1 sairaudessa |
| GALTgalactose-1-phosphate uridylyltransferase | Joskus (5–29%) | 1 sairaudessa |
| GRIK2glutamate ionotropic receptor kainate type subunit 2 | Joskus (5–29%) | 1 sairaudessa |
| HIBCH3-hydroxyisobutyryl-CoA hydrolase | Joskus (5–29%) | 1 sairaudessa |
| HIVEP2HIVEP zinc finger 2 | Joskus (5–29%) | 1 sairaudessa |
| HMGCL3-hydroxy-3-methylglutaryl-CoA lyase | Joskus (5–29%) | 2 sairaudessa |
| IDH2isocitrate dehydrogenase (NADP(+)) 2 | Joskus (5–29%) | 1 sairaudessa |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Joskus (5–29%) | 1 sairaudessa |
| LRPPRCleucine rich pentatricopeptide repeat containing | Joskus (5–29%) | 1 sairaudessa |
| MMACHCmetabolism of cobalamin associated C | Joskus (5–29%) | 1 sairaudessa |
| MPC1mitochondrial pyruvate carrier 1 | Joskus (5–29%) | 1 sairaudessa |
| MPV17mitochondrial inner membrane protein MPV17 | Joskus (5–29%) | 1 sairaudessa |
| NOTCH3notch receptor 3 | Joskus (5–29%) | 1 sairaudessa |
| PSAPprosaposin | Joskus (5–29%) | 1 sairaudessa |
| SLC52A3solute carrier family 52 member 3 | Joskus (5–29%) | 1 sairaudessa |
| SMC5structural maintenance of chromosomes 5 | Joskus (5–29%) | 1 sairaudessa |
| STAT2signal transducer and activator of transcription 2 | Joskus (5–29%) | 1 sairaudessa |
| TPK1thiamin pyrophosphokinase 1 | Joskus (5–29%) | 1 sairaudessa |
| GPR35G protein-coupled receptor 35 | Harvinainen (1–4 %) | 1 sairaudessa |
| MST1macrophage stimulating 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| MTHFRmethylenetetrahydrofolate reductase | Harvinainen (1–4 %) | 1 sairaudessa |
| NAGSN-acetylglutamate synthase | Harvinainen (1–4 %) | 1 sairaudessa |
| SEMA4Dsemaphorin 4D | Harvinainen (1–4 %) | 1 sairaudessa |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| TCF4transcription factor 4 | Harvinainen (1–4 %) | 1 sairaudessa |
| ACOX1acyl-CoA oxidase 1 | Ei kirjattu | 1 sairaudessa |
| APTXaprataxin | Ei kirjattu | 1 sairaudessa |
| ASNSasparagine synthetase (glutamine-hydrolyzing) | Ei kirjattu | 1 sairaudessa |
| ATAD1ATPase family AAA domain containing 1 | Ei kirjattu | 1 sairaudessa |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Ei kirjattu | 1 sairaudessa |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Ei kirjattu | 1 sairaudessa |
| COQ2coenzyme Q2, polyprenyltransferase | Ei kirjattu | 1 sairaudessa |
| COX15cytochrome c oxidase assembly factor COX15 | Ei kirjattu | 1 sairaudessa |
| CPT2carnitine palmitoyltransferase 2 | Ei kirjattu | 1 sairaudessa |
| DGUOKdeoxyguanosine kinase | Ei kirjattu | 1 sairaudessa |
| DLDdihydrolipoamide dehydrogenase | Ei kirjattu | 1 sairaudessa |
| GLDCglycine decarboxylase | Ei kirjattu | 1 sairaudessa |
| GLULglutamate-ammonia ligase | Ei kirjattu | 1 sairaudessa |
| GPT2glutamic--pyruvic transaminase 2 | Ei kirjattu | 1 sairaudessa |
| IBA57iron-sulfur cluster assembly factor IBA57 | Ei kirjattu | 1 sairaudessa |
| ITPAinosine triphosphatase | Ei kirjattu | 1 sairaudessa |
| LIASlipoic acid synthetase | Ei kirjattu | 1 sairaudessa |
| LYRM7LYR motif containing 7 | Ei kirjattu | 1 sairaudessa |
| MT-CYBmitochondrially encoded cytochrome b | Ei kirjattu | 1 sairaudessa |
| MT-TCmitochondrially encoded tRNA-Cys (UGU/C) | Ei kirjattu | 1 sairaudessa |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Ei kirjattu | 1 sairaudessa |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Ei kirjattu | 1 sairaudessa |
| PNPOpyridoxamine 5'-phosphate oxidase | Ei kirjattu | 1 sairaudessa |
| PRNPprion protein (Kanno blood group) | Ei kirjattu | 1 sairaudessa |
| RANBP2RAN binding protein 2 | Ei kirjattu | 1 sairaudessa |
| RNASEH2Bribonuclease H2 subunit B | Ei kirjattu | 1 sairaudessa |
| RNASEH2Cribonuclease H2 subunit C | Ei kirjattu | 1 sairaudessa |
| SERPINI1serpin family I member 1 | Ei kirjattu | 1 sairaudessa |
| SIK1salt inducible kinase 1 | Ei kirjattu | 1 sairaudessa |
| SLC19A3solute carrier family 19 member 3 | Ei kirjattu | 1 sairaudessa |
| SLC22A5solute carrier family 22 member 5 | Ei kirjattu | 1 sairaudessa |
| SLC25A1solute carrier family 25 member 1 | Ei kirjattu | 1 sairaudessa |
| SLC35A1solute carrier family 35 member A1 | Ei kirjattu | 1 sairaudessa |
| SLC6A9solute carrier family 6 member 9 | Ei kirjattu | 1 sairaudessa |
| TBCDtubulin folding cofactor D | Ei kirjattu | 1 sairaudessa |
| TBCEtubulin folding cofactor E | Ei kirjattu | 1 sairaudessa |
| TBCKTBC1 domain containing kinase | Ei kirjattu | 1 sairaudessa |
| TGFB1transforming growth factor beta 1 | Ei kirjattu | 1 sairaudessa |
| TMEM70transmembrane protein 70 | Ei kirjattu | 1 sairaudessa |
| TUFMTu translation elongation factor, mitochondrial | Ei kirjattu | 1 sairaudessa |
| UGT1A1UDP glucuronosyltransferase family 1 member A1 | Ei kirjattu | 1 sairaudessa |
Kuinka usein ilmiö esiintyy ihmisillä, joilla on jokin geenin sairauksista, niin kuin Human Phenotype Ontology sen kirjaa. Nämä sivut kuvaavat piirteitä ja niiden taustalla olevaa tutkimusta, eivätkä ne ole diagnoosi. Oireista kannattaa kysyä lääkäriltä tai geneettiseltä neuvojalta.
Tarkemmat piirteet
- Epileptic encephalopathy134 geeniä
- Hepatic encephalopathy24 geeniä
- Acute encephalopathy15 geeniä
- Progressive brain disease12 geeniä
- Infantile encephalopathy7 geeniä
- Hypoglycemic encephalopathy3 geeniä
- Mitochondrial encephalopathy3 geeniä
- Nonprogressive encephalopathy3 geeniä
- Congenital encephalopathy1 geeni
- Recurrent encephalopathy1 geeni
Laajemmat piirteet
Mistä tämä tieto tulee
- Human Phenotype Ontology, julkaisu 2026-09-01: piirre, sen nimet, määritelmä ja siihen liitetyt geenit. Lue lisää osoitteesta hpo.jax.org.
- Tietojulkaisu 2026.10.16-c6eea6bf.
Yksi testi. Vastauksia koko elämäksi.
Alkaen 449 $Ilmainen toimitus · Tulokset 6–8 viikossa