Egenskap
Encephalopathy
Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state.
Sammendrag
- Kroppssystem
- Abnormality of the nervous system
ReferansegenomGRCh38hg38
Posisjoner på gen- og variantsidene følger dette valget i denne nettleseren.
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Få mitt Genome Test243 gener knyttet til Encephalopathy
Endringer i disse genene forårsaker sjeldne tilstander der Encephalopathy forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| ATAD3AATPase family AAA domain containing 3A | Alltid | I 1 tilstand |
| ATP5F1AATP synthase F1 subunit alpha | Alltid | I 3 tilstander |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Alltid | I 1 tilstand |
| COQ5coenzyme Q5, methyltransferase | Alltid | I 1 tilstand |
| COQ9coenzyme Q9 | Alltid | I 1 tilstand |
| COX16cytochrome c oxidase assembly factor COX16 | Alltid | I 1 tilstand |
| CRNKL1crooked neck pre-mRNA splicing factor 1 | Alltid | I 1 tilstand |
| DNM1Ldynamin 1L | Alltid | I 1 tilstand |
| DSTdystonin | Alltid | I 1 tilstand |
| EPG5ectopic P-granules 5 autophagy tethering factor | Alltid | I 1 tilstand |
| FADDFas associated via death domain | Alltid | I 2 tilstander |
| FBXL4F-box and leucine rich repeat protein 4 | Alltid | I 1 tilstand |
| FDXRferredoxin reductase | Alltid | I 1 tilstand |
| GLYCTKglycerate kinase | Alltid | I 1 tilstand |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Alltid | I 1 tilstand |
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Alltid | I 1 tilstand |
| JKAMPJNK1/MAPK8 associated membrane protein | Alltid | I 1 tilstand |
| KYNUkynureninase | Alltid | I 1 tilstand |
| LIPT2lipoyl(octanoyl) transferase 2 | Alltid | I 1 tilstand |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Alltid | I 2 tilstander |
| MECP2methyl-CpG binding protein 2 | Alltid | I 2 tilstander |
| MMADHCmetabolism of cobalamin associated D | Alltid | I 1 tilstand |
| NADK2NAD kinase 2, mitochondrial | Alltid | I 1 tilstand |
| NAXDNAD(P)HX dehydratase | Alltid | I 1 tilstand |
| NAXENAD(P)HX epimerase | Alltid | I 1 tilstand |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Alltid | I 2 tilstander |
| NDUFB3NADH:ubiquinone oxidoreductase subunit B3 | Alltid | I 2 tilstander |
| NDUFV2NADH:ubiquinone oxidoreductase core subunit V2 | Alltid | I 2 tilstander |
| OPA1OPA1 mitochondrial dynamin like GTPase | Alltid | I 1 tilstand |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Alltid | I 1 tilstand |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Alltid | I 1 tilstand |
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Alltid | I 1 tilstand |
| PTPN23protein tyrosine phosphatase non-receptor type 23 | Alltid | I 1 tilstand |
| RFC4replication factor C subunit 4 | Alltid | I 1 tilstand |
| RNH1ribonuclease/angiogenin inhibitor 1 | Alltid | I 1 tilstand |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Alltid | I 1 tilstand |
| SCO2synthesis of cytochrome C oxidase 2 | Alltid | I 1 tilstand |
| SNAPINSNAP associated protein | Alltid | I 1 tilstand |
| SPOUT1SPOUT domain containing methyltransferase 1 | Alltid | I 1 tilstand |
| THAP11THAP domain containing 11 | Alltid | I 1 tilstand |
Vis 203 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| TRAPPC12trafficking protein particle complex subunit 12 | Alltid | I 1 tilstand |
| TWNKtwinkle mtDNA helicase | Alltid | I 1 tilstand |
| AARS1alanyl-tRNA synthetase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| ACTL6Bactin like 6B | Svært ofte (80–99 %) | I 1 tilstand |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Svært ofte (80–99 %) | I 1 tilstand |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Svært ofte (80–99 %) | I 1 tilstand |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Svært ofte (80–99 %) | I 2 tilstander |
| ATP6V1AATPase H+ transporting V1 subunit A | Svært ofte (80–99 %) | I 1 tilstand |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Svært ofte (80–99 %) | I 2 tilstander |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Svært ofte (80–99 %) | I 1 tilstand |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Svært ofte (80–99 %) | I 1 tilstand |
| CDK19cyclin dependent kinase 19 | Svært ofte (80–99 %) | I 1 tilstand |
| CELF2CUGBP Elav-like family member 2 | Svært ofte (80–99 %) | I 1 tilstand |
| CHD2chromodomain helicase DNA binding protein 2 | Svært ofte (80–99 %) | I 1 tilstand |
| CLTCclathrin heavy chain | Svært ofte (80–99 %) | I 1 tilstand |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Svært ofte (80–99 %) | I 1 tilstand |
| CUX2cut like homeobox 2 | Svært ofte (80–99 %) | I 1 tilstand |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Svært ofte (80–99 %) | I 1 tilstand |
| DALRD3DALR anticodon binding domain containing 3 | Svært ofte (80–99 %) | I 1 tilstand |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Svært ofte (80–99 %) | I 1 tilstand |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Svært ofte (80–99 %) | I 1 tilstand |
| DNM1dynamin 1 | Svært ofte (80–99 %) | I 2 tilstander |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Svært ofte (80–99 %) | I 1 tilstand |
| ETHE1ETHE1 persulfide dioxygenase | Svært ofte (80–99 %) | I 2 tilstander |
| FBXO28F-box protein 28 | Svært ofte (80–99 %) | I 1 tilstand |
| FGF12fibroblast growth factor 12 | Svært ofte (80–99 %) | I 1 tilstand |
| FOXG1forkhead box G1 | Svært ofte (80–99 %) | I 1 tilstand |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Svært ofte (80–99 %) | I 1 tilstand |
| FZR1fizzy and cell division cycle 20 related 1 | Svært ofte (80–99 %) | I 1 tilstand |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Svært ofte (80–99 %) | I 1 tilstand |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Svært ofte (80–99 %) | I 1 tilstand |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Svært ofte (80–99 %) | I 1 tilstand |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Svært ofte (80–99 %) | I 1 tilstand |
| GABRB3gamma-aminobutyric acid type A receptor subunit beta3 | Svært ofte (80–99 %) | I 1 tilstand |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Svært ofte (80–99 %) | I 1 tilstand |
| GBA1glucosylceramidase beta 1 | Svært ofte (80–99 %) | I 2 tilstander |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Svært ofte (80–99 %) | I 1 tilstand |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Svært ofte (80–99 %) | I 1 tilstand |
| HMGCS23-hydroxy-3-methylglutaryl-CoA synthase 2 | Svært ofte (80–99 %) | I 1 tilstand |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Svært ofte (80–99 %) | I 1 tilstand |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Svært ofte (80–99 %) | I 1 tilstand |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Svært ofte (80–99 %) | I 1 tilstand |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Svært ofte (80–99 %) | I 1 tilstand |
| MAPK10mitogen-activated protein kinase 10 | Svært ofte (80–99 %) | I 1 tilstand |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Svært ofte (80–99 %) | I 3 tilstander |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Svært ofte (80–99 %) | I 1 tilstand |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFA11NADH:ubiquinone oxidoreductase subunit A11 | Svært ofte (80–99 %) | I 2 tilstander |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Svært ofte (80–99 %) | I 2 tilstander |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFAF1NADH:ubiquinone oxidoreductase complex assembly factor 1 | Svært ofte (80–99 %) | I 2 tilstander |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Svært ofte (80–99 %) | I 2 tilstander |
| NDUFAF3NADH:ubiquinone oxidoreductase complex assembly factor 3 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFAF8NADH:ubiquinone oxidoreductase complex assembly factor 8 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFB10NADH:ubiquinone oxidoreductase subunit B10 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFB9NADH:ubiquinone oxidoreductase subunit B9 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFS3NADH:ubiquinone oxidoreductase core subunit S3 | Svært ofte (80–99 %) | I 2 tilstander |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFS6NADH:ubiquinone oxidoreductase subunit S6 | Svært ofte (80–99 %) | I 2 tilstander |
| NDUFS7NADH:ubiquinone oxidoreductase core subunit S7 | Svært ofte (80–99 %) | I 2 tilstander |
| NDUFS8NADH:ubiquinone oxidoreductase core subunit S8 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFV1NADH:ubiquinone oxidoreductase core subunit V1 | Svært ofte (80–99 %) | I 1 tilstand |
| NECAP1NECAP endocytosis associated 1 | Svært ofte (80–99 %) | I 1 tilstand |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Svært ofte (80–99 %) | I 1 tilstand |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Svært ofte (80–99 %) | I 1 tilstand |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Svært ofte (80–99 %) | I 1 tilstand |
| PACS2phosphofurin acidic cluster sorting protein 2 | Svært ofte (80–99 %) | I 1 tilstand |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Svært ofte (80–99 %) | I 1 tilstand |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Svært ofte (80–99 %) | I 1 tilstand |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Svært ofte (80–99 %) | I 2 tilstander |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Svært ofte (80–99 %) | I 1 tilstand |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Svært ofte (80–99 %) | I 1 tilstand |
| SLC13A5solute carrier family 13 member 5 | Svært ofte (80–99 %) | I 1 tilstand |
| SLC1A2solute carrier family 1 member 2 | Svært ofte (80–99 %) | I 1 tilstand |
| SLC25A20solute carrier family 25 member 20 | Svært ofte (80–99 %) | I 1 tilstand |
| SLC2A1solute carrier family 2 member 1 | Svært ofte (80–99 %) | I 1 tilstand |
| SLC38A3solute carrier family 38 member 3 | Svært ofte (80–99 %) | I 1 tilstand |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| SYNJ1synaptojanin 1 | Svært ofte (80–99 %) | I 1 tilstand |
| SZT2SZT2 subunit of KICSTOR complex | Svært ofte (80–99 %) | I 1 tilstand |
| TIMM50translocase of inner mitochondrial membrane 50 | Svært ofte (80–99 %) | I 1 tilstand |
| TIMMDC1translocase of inner mitochondrial membrane domain containing 1 | Svært ofte (80–99 %) | I 1 tilstand |
| TMEM126Btransmembrane protein 126B | Svært ofte (80–99 %) | I 1 tilstand |
| TRAK1trafficking kinesin protein 1 | Svært ofte (80–99 %) | I 2 tilstander |
| UBA5ubiquitin like modifier activating enzyme 5 | Svært ofte (80–99 %) | I 1 tilstand |
| UFSP2UFM1 specific peptidase 2 | Svært ofte (80–99 %) | I 1 tilstand |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Svært ofte (80–99 %) | I 1 tilstand |
| ACAD9acyl-CoA dehydrogenase family member 9 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Ofte (30–79 %) | I 2 tilstander |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Ofte (30–79 %) | I 2 tilstander |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Ofte (30–79 %) | I 2 tilstander |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Ofte (30–79 %) | I 2 tilstander |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Ofte (30–79 %) | I 2 tilstander |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Ofte (30–79 %) | I 2 tilstander |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Ofte (30–79 %) | I 2 tilstander |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Ofte (30–79 %) | I 2 tilstander |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Ofte (30–79 %) | I 2 tilstander |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Ofte (30–79 %) | I 2 tilstander |
| TSFMTs translation elongation factor, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| ACSF3acyl-CoA synthetase family member 3 | Noen ganger (5–29 %) | I 1 tilstand |
| ALDH4A1aldehyde dehydrogenase 4 family member A1 | Noen ganger (5–29 %) | I 1 tilstand |
| CA5Acarbonic anhydrase 5A | Noen ganger (5–29 %) | I 1 tilstand |
| D2HGDHD-2-hydroxyglutarate dehydrogenase | Noen ganger (5–29 %) | I 1 tilstand |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Noen ganger (5–29 %) | I 1 tilstand |
| GALCgalactosylceramidase | Noen ganger (5–29 %) | I 1 tilstand |
| GALTgalactose-1-phosphate uridylyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| GRIK2glutamate ionotropic receptor kainate type subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| HIBCH3-hydroxyisobutyryl-CoA hydrolase | Noen ganger (5–29 %) | I 1 tilstand |
| HIVEP2HIVEP zinc finger 2 | Noen ganger (5–29 %) | I 1 tilstand |
| HMGCL3-hydroxy-3-methylglutaryl-CoA lyase | Noen ganger (5–29 %) | I 2 tilstander |
| IDH2isocitrate dehydrogenase (NADP(+)) 2 | Noen ganger (5–29 %) | I 1 tilstand |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Noen ganger (5–29 %) | I 1 tilstand |
| LRPPRCleucine rich pentatricopeptide repeat containing | Noen ganger (5–29 %) | I 1 tilstand |
| MMACHCmetabolism of cobalamin associated C | Noen ganger (5–29 %) | I 1 tilstand |
| MPC1mitochondrial pyruvate carrier 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MPV17mitochondrial inner membrane protein MPV17 | Noen ganger (5–29 %) | I 1 tilstand |
| NOTCH3notch receptor 3 | Noen ganger (5–29 %) | I 1 tilstand |
| PSAPprosaposin | Noen ganger (5–29 %) | I 1 tilstand |
| SLC52A3solute carrier family 52 member 3 | Noen ganger (5–29 %) | I 1 tilstand |
| SMC5structural maintenance of chromosomes 5 | Noen ganger (5–29 %) | I 1 tilstand |
| STAT2signal transducer and activator of transcription 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TPK1thiamin pyrophosphokinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GPR35G protein-coupled receptor 35 | Sjelden (1–4%) | I 1 tilstand |
| MST1macrophage stimulating 1 | Sjelden (1–4%) | I 1 tilstand |
| MTHFRmethylenetetrahydrofolate reductase | Sjelden (1–4%) | I 1 tilstand |
| NAGSN-acetylglutamate synthase | Sjelden (1–4%) | I 1 tilstand |
| SEMA4Dsemaphorin 4D | Sjelden (1–4%) | I 1 tilstand |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Sjelden (1–4%) | I 1 tilstand |
| TCF4transcription factor 4 | Sjelden (1–4%) | I 1 tilstand |
| ACOX1acyl-CoA oxidase 1 | Ikke registrert | I 1 tilstand |
| APTXaprataxin | Ikke registrert | I 1 tilstand |
| ASNSasparagine synthetase (glutamine-hydrolyzing) | Ikke registrert | I 1 tilstand |
| ATAD1ATPase family AAA domain containing 1 | Ikke registrert | I 1 tilstand |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Ikke registrert | I 1 tilstand |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Ikke registrert | I 1 tilstand |
| COQ2coenzyme Q2, polyprenyltransferase | Ikke registrert | I 1 tilstand |
| COX15cytochrome c oxidase assembly factor COX15 | Ikke registrert | I 1 tilstand |
| CPT2carnitine palmitoyltransferase 2 | Ikke registrert | I 1 tilstand |
| DGUOKdeoxyguanosine kinase | Ikke registrert | I 1 tilstand |
| DLDdihydrolipoamide dehydrogenase | Ikke registrert | I 1 tilstand |
| GLDCglycine decarboxylase | Ikke registrert | I 1 tilstand |
| GLULglutamate-ammonia ligase | Ikke registrert | I 1 tilstand |
| GPT2glutamic--pyruvic transaminase 2 | Ikke registrert | I 1 tilstand |
| IBA57iron-sulfur cluster assembly factor IBA57 | Ikke registrert | I 1 tilstand |
| ITPAinosine triphosphatase | Ikke registrert | I 1 tilstand |
| LIASlipoic acid synthetase | Ikke registrert | I 1 tilstand |
| LYRM7LYR motif containing 7 | Ikke registrert | I 1 tilstand |
| MT-CYBmitochondrially encoded cytochrome b | Ikke registrert | I 1 tilstand |
| MT-TCmitochondrially encoded tRNA-Cys (UGU/C) | Ikke registrert | I 1 tilstand |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Ikke registrert | I 1 tilstand |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Ikke registrert | I 1 tilstand |
| PNPOpyridoxamine 5'-phosphate oxidase | Ikke registrert | I 1 tilstand |
| PRNPprion protein (Kanno blood group) | Ikke registrert | I 1 tilstand |
| RANBP2RAN binding protein 2 | Ikke registrert | I 1 tilstand |
| RNASEH2Bribonuclease H2 subunit B | Ikke registrert | I 1 tilstand |
| RNASEH2Cribonuclease H2 subunit C | Ikke registrert | I 1 tilstand |
| SERPINI1serpin family I member 1 | Ikke registrert | I 1 tilstand |
| SIK1salt inducible kinase 1 | Ikke registrert | I 1 tilstand |
| SLC19A3solute carrier family 19 member 3 | Ikke registrert | I 1 tilstand |
| SLC22A5solute carrier family 22 member 5 | Ikke registrert | I 1 tilstand |
| SLC25A1solute carrier family 25 member 1 | Ikke registrert | I 1 tilstand |
| SLC35A1solute carrier family 35 member A1 | Ikke registrert | I 1 tilstand |
| SLC6A9solute carrier family 6 member 9 | Ikke registrert | I 1 tilstand |
| TBCDtubulin folding cofactor D | Ikke registrert | I 1 tilstand |
| TBCEtubulin folding cofactor E | Ikke registrert | I 1 tilstand |
| TBCKTBC1 domain containing kinase | Ikke registrert | I 1 tilstand |
| TGFB1transforming growth factor beta 1 | Ikke registrert | I 1 tilstand |
| TMEM70transmembrane protein 70 | Ikke registrert | I 1 tilstand |
| TUFMTu translation elongation factor, mitochondrial | Ikke registrert | I 1 tilstand |
| UGT1A1UDP glucuronosyltransferase family 1 member A1 | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
Smalere egenskaper
- 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 egenskaper
Slik er informasjonen samlet
- Human Phenotype Ontology, versjon 2026-09-01: egenskapen, navnene på den, definisjonen og genene som er knyttet til den. Les mer på hpo.jax.org.
- Datautgave 2026.10.16-c6eea6bf.
Én test. En livstid med svar.
Fra 449 $Gratis frakt · Resultater på 6–8 uker