Požymis
Encephalopathy
Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state.
Santrauka
- Kūno sistema
- Abnormality of the nervous system
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
Read the genes linked to Encephalopathy, and the rest of your genome, with one test.
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Įsigyti savo Genome Test243 genų susiję su Encephalopathy
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Encephalopathy. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| ATAD3AATPase family AAA domain containing 3A | Visada | 1 ligoje |
| ATP5F1AATP synthase F1 subunit alpha | Visada | 3 ligose |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Visada | 1 ligoje |
| COQ5coenzyme Q5, methyltransferase | Visada | 1 ligoje |
| COQ9coenzyme Q9 | Visada | 1 ligoje |
| COX16cytochrome c oxidase assembly factor COX16 | Visada | 1 ligoje |
| CRNKL1crooked neck pre-mRNA splicing factor 1 | Visada | 1 ligoje |
| DNM1Ldynamin 1L | Visada | 1 ligoje |
| DSTdystonin | Visada | 1 ligoje |
| EPG5ectopic P-granules 5 autophagy tethering factor | Visada | 1 ligoje |
| FADDFas associated via death domain | Visada | 2 ligose |
| FBXL4F-box and leucine rich repeat protein 4 | Visada | 1 ligoje |
| FDXRferredoxin reductase | Visada | 1 ligoje |
| GLYCTKglycerate kinase | Visada | 1 ligoje |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Visada | 1 ligoje |
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Visada | 1 ligoje |
| JKAMPJNK1/MAPK8 associated membrane protein | Visada | 1 ligoje |
| KYNUkynureninase | Visada | 1 ligoje |
| LIPT2lipoyl(octanoyl) transferase 2 | Visada | 1 ligoje |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Visada | 2 ligose |
| MECP2methyl-CpG binding protein 2 | Visada | 2 ligose |
| MMADHCmetabolism of cobalamin associated D | Visada | 1 ligoje |
| NADK2NAD kinase 2, mitochondrial | Visada | 1 ligoje |
| NAXDNAD(P)HX dehydratase | Visada | 1 ligoje |
| NAXENAD(P)HX epimerase | Visada | 1 ligoje |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Visada | 2 ligose |
| NDUFB3NADH:ubiquinone oxidoreductase subunit B3 | Visada | 2 ligose |
| NDUFV2NADH:ubiquinone oxidoreductase core subunit V2 | Visada | 2 ligose |
| OPA1OPA1 mitochondrial dynamin like GTPase | Visada | 1 ligoje |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Visada | 1 ligoje |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Visada | 1 ligoje |
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Visada | 1 ligoje |
| PTPN23protein tyrosine phosphatase non-receptor type 23 | Visada | 1 ligoje |
| RFC4replication factor C subunit 4 | Visada | 1 ligoje |
| RNH1ribonuclease/angiogenin inhibitor 1 | Visada | 1 ligoje |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Visada | 1 ligoje |
| SCO2synthesis of cytochrome C oxidase 2 | Visada | 1 ligoje |
| SNAPINSNAP associated protein | Visada | 1 ligoje |
| SPOUT1SPOUT domain containing methyltransferase 1 | Visada | 1 ligoje |
| THAP11THAP domain containing 11 | Visada | 1 ligoje |
Rodyti dar 203 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| TRAPPC12trafficking protein particle complex subunit 12 | Visada | 1 ligoje |
| TWNKtwinkle mtDNA helicase | Visada | 1 ligoje |
| AARS1alanyl-tRNA synthetase 1 | Labai dažnai (80–99%) | 1 ligoje |
| ACTL6Bactin like 6B | Labai dažnai (80–99%) | 1 ligoje |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Labai dažnai (80–99%) | 1 ligoje |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Labai dažnai (80–99%) | 1 ligoje |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Labai dažnai (80–99%) | 2 ligose |
| ATP6V1AATPase H+ transporting V1 subunit A | Labai dažnai (80–99%) | 1 ligoje |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Labai dažnai (80–99%) | 2 ligose |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Labai dažnai (80–99%) | 1 ligoje |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Labai dažnai (80–99%) | 1 ligoje |
| CDK19cyclin dependent kinase 19 | Labai dažnai (80–99%) | 1 ligoje |
| CELF2CUGBP Elav-like family member 2 | Labai dažnai (80–99%) | 1 ligoje |
| CHD2chromodomain helicase DNA binding protein 2 | Labai dažnai (80–99%) | 1 ligoje |
| CLTCclathrin heavy chain | Labai dažnai (80–99%) | 1 ligoje |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Labai dažnai (80–99%) | 1 ligoje |
| CUX2cut like homeobox 2 | Labai dažnai (80–99%) | 1 ligoje |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Labai dažnai (80–99%) | 1 ligoje |
| DALRD3DALR anticodon binding domain containing 3 | Labai dažnai (80–99%) | 1 ligoje |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Labai dažnai (80–99%) | 1 ligoje |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Labai dažnai (80–99%) | 1 ligoje |
| DNM1dynamin 1 | Labai dažnai (80–99%) | 2 ligose |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Labai dažnai (80–99%) | 1 ligoje |
| ETHE1ETHE1 persulfide dioxygenase | Labai dažnai (80–99%) | 2 ligose |
| FBXO28F-box protein 28 | Labai dažnai (80–99%) | 1 ligoje |
| FGF12fibroblast growth factor 12 | Labai dažnai (80–99%) | 1 ligoje |
| FOXG1forkhead box G1 | Labai dažnai (80–99%) | 1 ligoje |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Labai dažnai (80–99%) | 1 ligoje |
| FZR1fizzy and cell division cycle 20 related 1 | Labai dažnai (80–99%) | 1 ligoje |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Labai dažnai (80–99%) | 1 ligoje |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Labai dažnai (80–99%) | 1 ligoje |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Labai dažnai (80–99%) | 1 ligoje |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Labai dažnai (80–99%) | 1 ligoje |
| GABRB3gamma-aminobutyric acid type A receptor subunit beta3 | Labai dažnai (80–99%) | 1 ligoje |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Labai dažnai (80–99%) | 1 ligoje |
| GBA1glucosylceramidase beta 1 | Labai dažnai (80–99%) | 2 ligose |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Labai dažnai (80–99%) | 1 ligoje |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Labai dažnai (80–99%) | 1 ligoje |
| HMGCS23-hydroxy-3-methylglutaryl-CoA synthase 2 | Labai dažnai (80–99%) | 1 ligoje |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Labai dažnai (80–99%) | 1 ligoje |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Labai dažnai (80–99%) | 1 ligoje |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Labai dažnai (80–99%) | 1 ligoje |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Labai dažnai (80–99%) | 1 ligoje |
| MAPK10mitogen-activated protein kinase 10 | Labai dažnai (80–99%) | 1 ligoje |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Labai dažnai (80–99%) | 3 ligose |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Labai dažnai (80–99%) | 1 ligoje |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFA11NADH:ubiquinone oxidoreductase subunit A11 | Labai dažnai (80–99%) | 2 ligose |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Labai dažnai (80–99%) | 2 ligose |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFAF1NADH:ubiquinone oxidoreductase complex assembly factor 1 | Labai dažnai (80–99%) | 2 ligose |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Labai dažnai (80–99%) | 2 ligose |
| NDUFAF3NADH:ubiquinone oxidoreductase complex assembly factor 3 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFAF8NADH:ubiquinone oxidoreductase complex assembly factor 8 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFB10NADH:ubiquinone oxidoreductase subunit B10 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFB9NADH:ubiquinone oxidoreductase subunit B9 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFS3NADH:ubiquinone oxidoreductase core subunit S3 | Labai dažnai (80–99%) | 2 ligose |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFS6NADH:ubiquinone oxidoreductase subunit S6 | Labai dažnai (80–99%) | 2 ligose |
| NDUFS7NADH:ubiquinone oxidoreductase core subunit S7 | Labai dažnai (80–99%) | 2 ligose |
| NDUFS8NADH:ubiquinone oxidoreductase core subunit S8 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFV1NADH:ubiquinone oxidoreductase core subunit V1 | Labai dažnai (80–99%) | 1 ligoje |
| NECAP1NECAP endocytosis associated 1 | Labai dažnai (80–99%) | 1 ligoje |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Labai dažnai (80–99%) | 1 ligoje |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Labai dažnai (80–99%) | 1 ligoje |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Labai dažnai (80–99%) | 1 ligoje |
| PACS2phosphofurin acidic cluster sorting protein 2 | Labai dažnai (80–99%) | 1 ligoje |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Labai dažnai (80–99%) | 1 ligoje |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Labai dažnai (80–99%) | 1 ligoje |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Labai dažnai (80–99%) | 2 ligose |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Labai dažnai (80–99%) | 1 ligoje |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Labai dažnai (80–99%) | 1 ligoje |
| SLC13A5solute carrier family 13 member 5 | Labai dažnai (80–99%) | 1 ligoje |
| SLC1A2solute carrier family 1 member 2 | Labai dažnai (80–99%) | 1 ligoje |
| SLC25A20solute carrier family 25 member 20 | Labai dažnai (80–99%) | 1 ligoje |
| SLC2A1solute carrier family 2 member 1 | Labai dažnai (80–99%) | 1 ligoje |
| SLC38A3solute carrier family 38 member 3 | Labai dažnai (80–99%) | 1 ligoje |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| SYNJ1synaptojanin 1 | Labai dažnai (80–99%) | 1 ligoje |
| SZT2SZT2 subunit of KICSTOR complex | Labai dažnai (80–99%) | 1 ligoje |
| TIMM50translocase of inner mitochondrial membrane 50 | Labai dažnai (80–99%) | 1 ligoje |
| TIMMDC1translocase of inner mitochondrial membrane domain containing 1 | Labai dažnai (80–99%) | 1 ligoje |
| TMEM126Btransmembrane protein 126B | Labai dažnai (80–99%) | 1 ligoje |
| TRAK1trafficking kinesin protein 1 | Labai dažnai (80–99%) | 2 ligose |
| UBA5ubiquitin like modifier activating enzyme 5 | Labai dažnai (80–99%) | 1 ligoje |
| UFSP2UFM1 specific peptidase 2 | Labai dažnai (80–99%) | 1 ligoje |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Labai dažnai (80–99%) | 1 ligoje |
| ACAD9acyl-CoA dehydrogenase family member 9 | Dažnai (30–79%) | 2 ligose |
| ACY1aminoacylase 1 | Dažnai (30–79%) | 1 ligoje |
| AMACRalpha-methylacyl-CoA racemase | Dažnai (30–79%) | 1 ligoje |
| ATG7autophagy related 7 | Dažnai (30–79%) | 1 ligoje |
| ATP5F1DATP synthase F1 subunit delta | Dažnai (30–79%) | 2 ligose |
| ATP5F1EATP synthase F1 subunit epsilon | Dažnai (30–79%) | 1 ligoje |
| ATP5MKATP synthase membrane subunit k | Dažnai (30–79%) | 1 ligoje |
| ATP5POATP synthase peripheral stalk subunit OSCP | Dažnai (30–79%) | 1 ligoje |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Dažnai (30–79%) | 1 ligoje |
| CLPBClpB family mitochondrial disaggregase | Dažnai (30–79%) | 1 ligoje |
| CYC1cytochrome c1 | Dažnai (30–79%) | 1 ligoje |
| DBR1debranching RNA lariats 1 | Dažnai (30–79%) | 1 ligoje |
| FHfumarate hydratase | Dažnai (30–79%) | 1 ligoje |
| GCDHglutaryl-CoA dehydrogenase | Dažnai (30–79%) | 1 ligoje |
| GFM1G elongation factor mitochondrial 1 | Dažnai (30–79%) | 1 ligoje |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Dažnai (30–79%) | 1 ligoje |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Dažnai (30–79%) | 1 ligoje |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Dažnai (30–79%) | 2 ligose |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Dažnai (30–79%) | 2 ligose |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Dažnai (30–79%) | 2 ligose |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Dažnai (30–79%) | 1 ligoje |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Dažnai (30–79%) | 2 ligose |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Dažnai (30–79%) | 2 ligose |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Dažnai (30–79%) | 2 ligose |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Dažnai (30–79%) | 2 ligose |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Dažnai (30–79%) | 2 ligose |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Dažnai (30–79%) | 2 ligose |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Dažnai (30–79%) | 2 ligose |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Dažnai (30–79%) | 2 ligose |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Dažnai (30–79%) | 2 ligose |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Dažnai (30–79%) | 2 ligose |
| MTO1mitochondrial tRNA translation optimization 1 | Dažnai (30–79%) | 1 ligoje |
| NDUFA2NADH:ubiquinone oxidoreductase subunit A2 | Dažnai (30–79%) | 1 ligoje |
| NFU1NFU1 iron-sulfur cluster scaffold | Dažnai (30–79%) | 2 ligose |
| OTCornithine transcarbamylase | Dažnai (30–79%) | 1 ligoje |
| POLGDNA polymerase gamma, catalytic subunit | Dažnai (30–79%) | 1 ligoje |
| RNU2-2RNA, U2 small nuclear 2 | Dažnai (30–79%) | 1 ligoje |
| SERAC1serine active site containing 1 | Dažnai (30–79%) | 2 ligose |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Dažnai (30–79%) | 2 ligose |
| TSFMTs translation elongation factor, mitochondrial | Dažnai (30–79%) | 1 ligoje |
| ACSF3acyl-CoA synthetase family member 3 | Kartais (5–29%) | 1 ligoje |
| ALDH4A1aldehyde dehydrogenase 4 family member A1 | Kartais (5–29%) | 1 ligoje |
| CA5Acarbonic anhydrase 5A | Kartais (5–29%) | 1 ligoje |
| D2HGDHD-2-hydroxyglutarate dehydrogenase | Kartais (5–29%) | 1 ligoje |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Kartais (5–29%) | 1 ligoje |
| GALCgalactosylceramidase | Kartais (5–29%) | 1 ligoje |
| GALTgalactose-1-phosphate uridylyltransferase | Kartais (5–29%) | 1 ligoje |
| GRIK2glutamate ionotropic receptor kainate type subunit 2 | Kartais (5–29%) | 1 ligoje |
| HIBCH3-hydroxyisobutyryl-CoA hydrolase | Kartais (5–29%) | 1 ligoje |
| HIVEP2HIVEP zinc finger 2 | Kartais (5–29%) | 1 ligoje |
| HMGCL3-hydroxy-3-methylglutaryl-CoA lyase | Kartais (5–29%) | 2 ligose |
| IDH2isocitrate dehydrogenase (NADP(+)) 2 | Kartais (5–29%) | 1 ligoje |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Kartais (5–29%) | 1 ligoje |
| LRPPRCleucine rich pentatricopeptide repeat containing | Kartais (5–29%) | 1 ligoje |
| MMACHCmetabolism of cobalamin associated C | Kartais (5–29%) | 1 ligoje |
| MPC1mitochondrial pyruvate carrier 1 | Kartais (5–29%) | 1 ligoje |
| MPV17mitochondrial inner membrane protein MPV17 | Kartais (5–29%) | 1 ligoje |
| NOTCH3notch receptor 3 | Kartais (5–29%) | 1 ligoje |
| PSAPprosaposin | Kartais (5–29%) | 1 ligoje |
| SLC52A3solute carrier family 52 member 3 | Kartais (5–29%) | 1 ligoje |
| SMC5structural maintenance of chromosomes 5 | Kartais (5–29%) | 1 ligoje |
| STAT2signal transducer and activator of transcription 2 | Kartais (5–29%) | 1 ligoje |
| TPK1thiamin pyrophosphokinase 1 | Kartais (5–29%) | 1 ligoje |
| GPR35G protein-coupled receptor 35 | Retai (1–4 %) | 1 ligoje |
| MST1macrophage stimulating 1 | Retai (1–4 %) | 1 ligoje |
| MTHFRmethylenetetrahydrofolate reductase | Retai (1–4 %) | 1 ligoje |
| NAGSN-acetylglutamate synthase | Retai (1–4 %) | 1 ligoje |
| SEMA4Dsemaphorin 4D | Retai (1–4 %) | 1 ligoje |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Retai (1–4 %) | 1 ligoje |
| TCF4transcription factor 4 | Retai (1–4 %) | 1 ligoje |
| ACOX1acyl-CoA oxidase 1 | Neužfiksuota | 1 ligoje |
| APTXaprataxin | Neužfiksuota | 1 ligoje |
| ASNSasparagine synthetase (glutamine-hydrolyzing) | Neužfiksuota | 1 ligoje |
| ATAD1ATPase family AAA domain containing 1 | Neužfiksuota | 1 ligoje |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Neužfiksuota | 1 ligoje |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Neužfiksuota | 1 ligoje |
| COQ2coenzyme Q2, polyprenyltransferase | Neužfiksuota | 1 ligoje |
| COX15cytochrome c oxidase assembly factor COX15 | Neužfiksuota | 1 ligoje |
| CPT2carnitine palmitoyltransferase 2 | Neužfiksuota | 1 ligoje |
| DGUOKdeoxyguanosine kinase | Neužfiksuota | 1 ligoje |
| DLDdihydrolipoamide dehydrogenase | Neužfiksuota | 1 ligoje |
| GLDCglycine decarboxylase | Neužfiksuota | 1 ligoje |
| GLULglutamate-ammonia ligase | Neužfiksuota | 1 ligoje |
| GPT2glutamic--pyruvic transaminase 2 | Neužfiksuota | 1 ligoje |
| IBA57iron-sulfur cluster assembly factor IBA57 | Neužfiksuota | 1 ligoje |
| ITPAinosine triphosphatase | Neužfiksuota | 1 ligoje |
| LIASlipoic acid synthetase | Neužfiksuota | 1 ligoje |
| LYRM7LYR motif containing 7 | Neužfiksuota | 1 ligoje |
| MT-CYBmitochondrially encoded cytochrome b | Neužfiksuota | 1 ligoje |
| MT-TCmitochondrially encoded tRNA-Cys (UGU/C) | Neužfiksuota | 1 ligoje |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Neužfiksuota | 1 ligoje |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Neužfiksuota | 1 ligoje |
| PNPOpyridoxamine 5'-phosphate oxidase | Neužfiksuota | 1 ligoje |
| PRNPprion protein (Kanno blood group) | Neužfiksuota | 1 ligoje |
| RANBP2RAN binding protein 2 | Neužfiksuota | 1 ligoje |
| RNASEH2Bribonuclease H2 subunit B | Neužfiksuota | 1 ligoje |
| RNASEH2Cribonuclease H2 subunit C | Neužfiksuota | 1 ligoje |
| SERPINI1serpin family I member 1 | Neužfiksuota | 1 ligoje |
| SIK1salt inducible kinase 1 | Neužfiksuota | 1 ligoje |
| SLC19A3solute carrier family 19 member 3 | Neužfiksuota | 1 ligoje |
| SLC22A5solute carrier family 22 member 5 | Neužfiksuota | 1 ligoje |
| SLC25A1solute carrier family 25 member 1 | Neužfiksuota | 1 ligoje |
| SLC35A1solute carrier family 35 member A1 | Neužfiksuota | 1 ligoje |
| SLC6A9solute carrier family 6 member 9 | Neužfiksuota | 1 ligoje |
| TBCDtubulin folding cofactor D | Neužfiksuota | 1 ligoje |
| TBCEtubulin folding cofactor E | Neužfiksuota | 1 ligoje |
| TBCKTBC1 domain containing kinase | Neužfiksuota | 1 ligoje |
| TGFB1transforming growth factor beta 1 | Neužfiksuota | 1 ligoje |
| TMEM70transmembrane protein 70 | Neužfiksuota | 1 ligoje |
| TUFMTu translation elongation factor, mitochondrial | Neužfiksuota | 1 ligoje |
| UGT1A1UDP glucuronosyltransferase family 1 member A1 | Neužfiksuota | 1 ligoje |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
Siauresni požymiai
- Epileptic encephalopathy134 genų
- Hepatic encephalopathy24 genų
- Acute encephalopathy15 genų
- Progressive brain disease12 genų
- Infantile encephalopathy7 genų
- Hypoglycemic encephalopathy3 genų
- Mitochondrial encephalopathy3 genų
- Nonprogressive encephalopathy3 genų
- Congenital encephalopathy1 genas
- Recurrent encephalopathy1 genas
Platesni požymiai
Iš kur tai žinoma
- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
- Duomenų leidimas 2026.10.16-c6eea6bf.
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