Tunnus
Encephalopathy
Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state.
Kokkuvõte
- Kehasüsteem
- Abnormality of the nervous system
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Encephalopathy, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test243 geeni on seotud tunnusega Encephalopathy
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Encephalopathy. Enamikul selle tunnusega inimestest ei ole ühtegi neist haigustest. Selles loendis olev geen ei ütle midagi kellegi enda genoomi kohta.
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| ATAD3AATPase family AAA domain containing 3A | Alati | Esineb 1 haiguses |
| ATP5F1AATP synthase F1 subunit alpha | Alati | Esineb 3 haiguses |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Alati | Esineb 1 haiguses |
| COQ5coenzyme Q5, methyltransferase | Alati | Esineb 1 haiguses |
| COQ9coenzyme Q9 | Alati | Esineb 1 haiguses |
| COX16cytochrome c oxidase assembly factor COX16 | Alati | Esineb 1 haiguses |
| CRNKL1crooked neck pre-mRNA splicing factor 1 | Alati | Esineb 1 haiguses |
| DNM1Ldynamin 1L | Alati | Esineb 1 haiguses |
| DSTdystonin | Alati | Esineb 1 haiguses |
| EPG5ectopic P-granules 5 autophagy tethering factor | Alati | Esineb 1 haiguses |
| FADDFas associated via death domain | Alati | Esineb 2 haiguses |
| FBXL4F-box and leucine rich repeat protein 4 | Alati | Esineb 1 haiguses |
| FDXRferredoxin reductase | Alati | Esineb 1 haiguses |
| GLYCTKglycerate kinase | Alati | Esineb 1 haiguses |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Alati | Esineb 1 haiguses |
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Alati | Esineb 1 haiguses |
| JKAMPJNK1/MAPK8 associated membrane protein | Alati | Esineb 1 haiguses |
| KYNUkynureninase | Alati | Esineb 1 haiguses |
| LIPT2lipoyl(octanoyl) transferase 2 | Alati | Esineb 1 haiguses |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Alati | Esineb 2 haiguses |
| MECP2methyl-CpG binding protein 2 | Alati | Esineb 2 haiguses |
| MMADHCmetabolism of cobalamin associated D | Alati | Esineb 1 haiguses |
| NADK2NAD kinase 2, mitochondrial | Alati | Esineb 1 haiguses |
| NAXDNAD(P)HX dehydratase | Alati | Esineb 1 haiguses |
| NAXENAD(P)HX epimerase | Alati | Esineb 1 haiguses |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Alati | Esineb 2 haiguses |
| NDUFB3NADH:ubiquinone oxidoreductase subunit B3 | Alati | Esineb 2 haiguses |
| NDUFV2NADH:ubiquinone oxidoreductase core subunit V2 | Alati | Esineb 2 haiguses |
| OPA1OPA1 mitochondrial dynamin like GTPase | Alati | Esineb 1 haiguses |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Alati | Esineb 1 haiguses |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Alati | Esineb 1 haiguses |
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Alati | Esineb 1 haiguses |
| PTPN23protein tyrosine phosphatase non-receptor type 23 | Alati | Esineb 1 haiguses |
| RFC4replication factor C subunit 4 | Alati | Esineb 1 haiguses |
| RNH1ribonuclease/angiogenin inhibitor 1 | Alati | Esineb 1 haiguses |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Alati | Esineb 1 haiguses |
| SCO2synthesis of cytochrome C oxidase 2 | Alati | Esineb 1 haiguses |
| SNAPINSNAP associated protein | Alati | Esineb 1 haiguses |
| SPOUT1SPOUT domain containing methyltransferase 1 | Alati | Esineb 1 haiguses |
| THAP11THAP domain containing 11 | Alati | Esineb 1 haiguses |
Näita veel 203 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| TRAPPC12trafficking protein particle complex subunit 12 | Alati | Esineb 1 haiguses |
| TWNKtwinkle mtDNA helicase | Alati | Esineb 1 haiguses |
| AARS1alanyl-tRNA synthetase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ACTL6Bactin like 6B | Väga sageli (80–99%) | Esineb 1 haiguses |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Väga sageli (80–99%) | Esineb 2 haiguses |
| ATP6V1AATPase H+ transporting V1 subunit A | Väga sageli (80–99%) | Esineb 1 haiguses |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Väga sageli (80–99%) | Esineb 2 haiguses |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Väga sageli (80–99%) | Esineb 1 haiguses |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CDK19cyclin dependent kinase 19 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CELF2CUGBP Elav-like family member 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CHD2chromodomain helicase DNA binding protein 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CLTCclathrin heavy chain | Väga sageli (80–99%) | Esineb 1 haiguses |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CUX2cut like homeobox 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| DALRD3DALR anticodon binding domain containing 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Väga sageli (80–99%) | Esineb 1 haiguses |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Väga sageli (80–99%) | Esineb 1 haiguses |
| DNM1dynamin 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ETHE1ETHE1 persulfide dioxygenase | Väga sageli (80–99%) | Esineb 2 haiguses |
| FBXO28F-box protein 28 | Väga sageli (80–99%) | Esineb 1 haiguses |
| FGF12fibroblast growth factor 12 | Väga sageli (80–99%) | Esineb 1 haiguses |
| FOXG1forkhead box G1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| FZR1fizzy and cell division cycle 20 related 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Väga sageli (80–99%) | Esineb 1 haiguses |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| GABRB3gamma-aminobutyric acid type A receptor subunit beta3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| GBA1glucosylceramidase beta 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Väga sageli (80–99%) | Esineb 1 haiguses |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| HMGCS23-hydroxy-3-methylglutaryl-CoA synthase 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MAPK10mitogen-activated protein kinase 10 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Väga sageli (80–99%) | Esineb 3 haiguses |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NDUFA11NADH:ubiquinone oxidoreductase subunit A11 | Väga sageli (80–99%) | Esineb 2 haiguses |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Väga sageli (80–99%) | Esineb 2 haiguses |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NDUFAF1NADH:ubiquinone oxidoreductase complex assembly factor 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| NDUFAF3NADH:ubiquinone oxidoreductase complex assembly factor 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NDUFAF8NADH:ubiquinone oxidoreductase complex assembly factor 8 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NDUFB10NADH:ubiquinone oxidoreductase subunit B10 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NDUFB9NADH:ubiquinone oxidoreductase subunit B9 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NDUFS3NADH:ubiquinone oxidoreductase core subunit S3 | Väga sageli (80–99%) | Esineb 2 haiguses |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NDUFS6NADH:ubiquinone oxidoreductase subunit S6 | Väga sageli (80–99%) | Esineb 2 haiguses |
| NDUFS7NADH:ubiquinone oxidoreductase core subunit S7 | Väga sageli (80–99%) | Esineb 2 haiguses |
| NDUFS8NADH:ubiquinone oxidoreductase core subunit S8 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NDUFV1NADH:ubiquinone oxidoreductase core subunit V1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NECAP1NECAP endocytosis associated 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Väga sageli (80–99%) | Esineb 1 haiguses |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Väga sageli (80–99%) | Esineb 1 haiguses |
| PACS2phosphofurin acidic cluster sorting protein 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Väga sageli (80–99%) | Esineb 1 haiguses |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Väga sageli (80–99%) | Esineb 1 haiguses |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SLC13A5solute carrier family 13 member 5 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SLC1A2solute carrier family 1 member 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SLC25A20solute carrier family 25 member 20 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SLC2A1solute carrier family 2 member 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SLC38A3solute carrier family 38 member 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SYNJ1synaptojanin 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SZT2SZT2 subunit of KICSTOR complex | Väga sageli (80–99%) | Esineb 1 haiguses |
| TIMM50translocase of inner mitochondrial membrane 50 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TIMMDC1translocase of inner mitochondrial membrane domain containing 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TMEM126Btransmembrane protein 126B | Väga sageli (80–99%) | Esineb 1 haiguses |
| TRAK1trafficking kinesin protein 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| UBA5ubiquitin like modifier activating enzyme 5 | Väga sageli (80–99%) | Esineb 1 haiguses |
| UFSP2UFM1 specific peptidase 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Väga sageli (80–99%) | Esineb 1 haiguses |
| ACAD9acyl-CoA dehydrogenase family member 9 | Sageli (30–79%) | Esineb 2 haiguses |
| ACY1aminoacylase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| AMACRalpha-methylacyl-CoA racemase | Sageli (30–79%) | Esineb 1 haiguses |
| ATG7autophagy related 7 | Sageli (30–79%) | Esineb 1 haiguses |
| ATP5F1DATP synthase F1 subunit delta | Sageli (30–79%) | Esineb 2 haiguses |
| ATP5F1EATP synthase F1 subunit epsilon | Sageli (30–79%) | Esineb 1 haiguses |
| ATP5MKATP synthase membrane subunit k | Sageli (30–79%) | Esineb 1 haiguses |
| ATP5POATP synthase peripheral stalk subunit OSCP | Sageli (30–79%) | Esineb 1 haiguses |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Sageli (30–79%) | Esineb 1 haiguses |
| CLPBClpB family mitochondrial disaggregase | Sageli (30–79%) | Esineb 1 haiguses |
| CYC1cytochrome c1 | Sageli (30–79%) | Esineb 1 haiguses |
| DBR1debranching RNA lariats 1 | Sageli (30–79%) | Esineb 1 haiguses |
| FHfumarate hydratase | Sageli (30–79%) | Esineb 1 haiguses |
| GCDHglutaryl-CoA dehydrogenase | Sageli (30–79%) | Esineb 1 haiguses |
| GFM1G elongation factor mitochondrial 1 | Sageli (30–79%) | Esineb 1 haiguses |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Sageli (30–79%) | Esineb 1 haiguses |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Sageli (30–79%) | Esineb 1 haiguses |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Sageli (30–79%) | Esineb 2 haiguses |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Sageli (30–79%) | Esineb 2 haiguses |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Sageli (30–79%) | Esineb 2 haiguses |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Sageli (30–79%) | Esineb 1 haiguses |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Sageli (30–79%) | Esineb 2 haiguses |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Sageli (30–79%) | Esineb 2 haiguses |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Sageli (30–79%) | Esineb 2 haiguses |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Sageli (30–79%) | Esineb 2 haiguses |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Sageli (30–79%) | Esineb 2 haiguses |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Sageli (30–79%) | Esineb 2 haiguses |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Sageli (30–79%) | Esineb 2 haiguses |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Sageli (30–79%) | Esineb 2 haiguses |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Sageli (30–79%) | Esineb 2 haiguses |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Sageli (30–79%) | Esineb 2 haiguses |
| MTO1mitochondrial tRNA translation optimization 1 | Sageli (30–79%) | Esineb 1 haiguses |
| NDUFA2NADH:ubiquinone oxidoreductase subunit A2 | Sageli (30–79%) | Esineb 1 haiguses |
| NFU1NFU1 iron-sulfur cluster scaffold | Sageli (30–79%) | Esineb 2 haiguses |
| OTCornithine transcarbamylase | Sageli (30–79%) | Esineb 1 haiguses |
| POLGDNA polymerase gamma, catalytic subunit | Sageli (30–79%) | Esineb 1 haiguses |
| RNU2-2RNA, U2 small nuclear 2 | Sageli (30–79%) | Esineb 1 haiguses |
| SERAC1serine active site containing 1 | Sageli (30–79%) | Esineb 2 haiguses |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Sageli (30–79%) | Esineb 2 haiguses |
| TSFMTs translation elongation factor, mitochondrial | Sageli (30–79%) | Esineb 1 haiguses |
| ACSF3acyl-CoA synthetase family member 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ALDH4A1aldehyde dehydrogenase 4 family member A1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CA5Acarbonic anhydrase 5A | Mõnikord (5–29%) | Esineb 1 haiguses |
| D2HGDHD-2-hydroxyglutarate dehydrogenase | Mõnikord (5–29%) | Esineb 1 haiguses |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Mõnikord (5–29%) | Esineb 1 haiguses |
| GALCgalactosylceramidase | Mõnikord (5–29%) | Esineb 1 haiguses |
| GALTgalactose-1-phosphate uridylyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| GRIK2glutamate ionotropic receptor kainate type subunit 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HIBCH3-hydroxyisobutyryl-CoA hydrolase | Mõnikord (5–29%) | Esineb 1 haiguses |
| HIVEP2HIVEP zinc finger 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HMGCL3-hydroxy-3-methylglutaryl-CoA lyase | Mõnikord (5–29%) | Esineb 2 haiguses |
| IDH2isocitrate dehydrogenase (NADP(+)) 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Mõnikord (5–29%) | Esineb 1 haiguses |
| LRPPRCleucine rich pentatricopeptide repeat containing | Mõnikord (5–29%) | Esineb 1 haiguses |
| MMACHCmetabolism of cobalamin associated C | Mõnikord (5–29%) | Esineb 1 haiguses |
| MPC1mitochondrial pyruvate carrier 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MPV17mitochondrial inner membrane protein MPV17 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NOTCH3notch receptor 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PSAPprosaposin | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC52A3solute carrier family 52 member 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SMC5structural maintenance of chromosomes 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| STAT2signal transducer and activator of transcription 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TPK1thiamin pyrophosphokinase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GPR35G protein-coupled receptor 35 | Harva (1–4%) | Esineb 1 haiguses |
| MST1macrophage stimulating 1 | Harva (1–4%) | Esineb 1 haiguses |
| MTHFRmethylenetetrahydrofolate reductase | Harva (1–4%) | Esineb 1 haiguses |
| NAGSN-acetylglutamate synthase | Harva (1–4%) | Esineb 1 haiguses |
| SEMA4Dsemaphorin 4D | Harva (1–4%) | Esineb 1 haiguses |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Harva (1–4%) | Esineb 1 haiguses |
| TCF4transcription factor 4 | Harva (1–4%) | Esineb 1 haiguses |
| ACOX1acyl-CoA oxidase 1 | Pole registreeritud | Esineb 1 haiguses |
| APTXaprataxin | Pole registreeritud | Esineb 1 haiguses |
| ASNSasparagine synthetase (glutamine-hydrolyzing) | Pole registreeritud | Esineb 1 haiguses |
| ATAD1ATPase family AAA domain containing 1 | Pole registreeritud | Esineb 1 haiguses |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Pole registreeritud | Esineb 1 haiguses |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Pole registreeritud | Esineb 1 haiguses |
| COQ2coenzyme Q2, polyprenyltransferase | Pole registreeritud | Esineb 1 haiguses |
| COX15cytochrome c oxidase assembly factor COX15 | Pole registreeritud | Esineb 1 haiguses |
| CPT2carnitine palmitoyltransferase 2 | Pole registreeritud | Esineb 1 haiguses |
| DGUOKdeoxyguanosine kinase | Pole registreeritud | Esineb 1 haiguses |
| DLDdihydrolipoamide dehydrogenase | Pole registreeritud | Esineb 1 haiguses |
| GLDCglycine decarboxylase | Pole registreeritud | Esineb 1 haiguses |
| GLULglutamate-ammonia ligase | Pole registreeritud | Esineb 1 haiguses |
| GPT2glutamic--pyruvic transaminase 2 | Pole registreeritud | Esineb 1 haiguses |
| IBA57iron-sulfur cluster assembly factor IBA57 | Pole registreeritud | Esineb 1 haiguses |
| ITPAinosine triphosphatase | Pole registreeritud | Esineb 1 haiguses |
| LIASlipoic acid synthetase | Pole registreeritud | Esineb 1 haiguses |
| LYRM7LYR motif containing 7 | Pole registreeritud | Esineb 1 haiguses |
| MT-CYBmitochondrially encoded cytochrome b | Pole registreeritud | Esineb 1 haiguses |
| MT-TCmitochondrially encoded tRNA-Cys (UGU/C) | Pole registreeritud | Esineb 1 haiguses |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Pole registreeritud | Esineb 1 haiguses |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Pole registreeritud | Esineb 1 haiguses |
| PNPOpyridoxamine 5'-phosphate oxidase | Pole registreeritud | Esineb 1 haiguses |
| PRNPprion protein (Kanno blood group) | Pole registreeritud | Esineb 1 haiguses |
| RANBP2RAN binding protein 2 | Pole registreeritud | Esineb 1 haiguses |
| RNASEH2Bribonuclease H2 subunit B | Pole registreeritud | Esineb 1 haiguses |
| RNASEH2Cribonuclease H2 subunit C | Pole registreeritud | Esineb 1 haiguses |
| SERPINI1serpin family I member 1 | Pole registreeritud | Esineb 1 haiguses |
| SIK1salt inducible kinase 1 | Pole registreeritud | Esineb 1 haiguses |
| SLC19A3solute carrier family 19 member 3 | Pole registreeritud | Esineb 1 haiguses |
| SLC22A5solute carrier family 22 member 5 | Pole registreeritud | Esineb 1 haiguses |
| SLC25A1solute carrier family 25 member 1 | Pole registreeritud | Esineb 1 haiguses |
| SLC35A1solute carrier family 35 member A1 | Pole registreeritud | Esineb 1 haiguses |
| SLC6A9solute carrier family 6 member 9 | Pole registreeritud | Esineb 1 haiguses |
| TBCDtubulin folding cofactor D | Pole registreeritud | Esineb 1 haiguses |
| TBCEtubulin folding cofactor E | Pole registreeritud | Esineb 1 haiguses |
| TBCKTBC1 domain containing kinase | Pole registreeritud | Esineb 1 haiguses |
| TGFB1transforming growth factor beta 1 | Pole registreeritud | Esineb 1 haiguses |
| TMEM70transmembrane protein 70 | Pole registreeritud | Esineb 1 haiguses |
| TUFMTu translation elongation factor, mitochondrial | Pole registreeritud | Esineb 1 haiguses |
| UGT1A1UDP glucuronosyltransferase family 1 member A1 | Pole registreeritud | Esineb 1 haiguses |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Kitsamad tunnused
- Epileptic encephalopathy134 geeni
- Hepatic encephalopathy24 geeni
- Acute encephalopathy15 geeni
- Progressive brain disease12 geeni
- Infantile encephalopathy7 geeni
- Hypoglycemic encephalopathy3 geeni
- Mitochondrial encephalopathy3 geeni
- Nonprogressive encephalopathy3 geeni
- Congenital encephalopathy1 geen
- Recurrent encephalopathy1 geen
Laiemad tunnused
Allikas
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: tunnus, selle nimetused, määratlus ja sellega seotud geenid. Lisateave leiab aadressilt hpo.jax.org.
- Andmeversioon 2026.10.16-c6eea6bf.
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast