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Egenskap
Brain degeneration
Klinisk navn: Brain atrophy
Partial or complete wasting (loss) of brain tissue that was once present.
Sammendrag
- Også kalt
- Brain wasting
- Kroppssystem
- Abnormality of the nervous system
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Denne siden som data
Legg til .json etter adressen til siden, eller be om application/json, for å lese den som JSON.
library(jsonlite)
url <- "https://dantelabs.com/traits/brain-atrophy.json"
page <- fromJSON(url)
page$trait$nameBrain degenerationHP:0012444
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Les genene knyttet til Brain degeneration, og resten av genomet ditt, med én test.
Fra 449 $Gratis frakt · Resultater på 6–8 uker
Få mitt Genome Test59 condition reports read genes linked to this trait
Dante Labs condition reports look at the genes behind groups of inherited conditions, read from one whole-genome test. Each page says which conditions and genes a report covers, how it is read and what it cannot tell you.
- Epilepsy (Full Panel)Reads 57 of these genesFBXO28GLULKCNT1NECAP1DNM1HID1About this report →
- Aicardi-Goutieres SyndromeReads 8 of these genesADARIFIH1RNASEH2ARNASEH2BRNASEH2CRNU7-1About this report →
- Frontotemporal DementiaReads 7 of these genesVCPCHMP2BGRNMAPTPSEN1HNRNPA1About this report →
- Other Inherited LeukodystrophiesReads 16 of these genesVPS11TMEM106BTREM2ADARIFIH1NKX6-2About this report →
Show 55 more reports
- Familial Hemiplegic MigraineReads 3 of these genesATP1A2CACNA1ASCN1AAbout this report →
- Cerebral Arteriopathy with Subcortical Infarcts and LeukoencephalopathyReads 2 of these genesHTRA1NOTCH3About this report →
- Hereditary Optic NeuropathyReads 5 of these genesATP1A3MT-ND1MT-ND4MT-ND5MT-ND6About this report →
- Rare Monogenic Autoinflammatory DiseasesReads 8 of these genesADARIFIH1RNASEH2ARNASEH2BRNASEH2CRNU7-1About this report →
- Leigh SyndromeReads 10 of these genesNDUFV1SCO2ECHS1SERAC1MT-ND1MT-ND4About this report →
- Distal MyopathiesReads 5 of these genesDNAJB4LRP12VCPHNRNPA1HNRNPA2B1About this report →
- Canavan DiseaseReads 1 of these genesASPAAbout this report →
- Chediak-Higashi syndromeReads 1 of these genesLYSTAbout this report →
- Dravet SyndromeReads 1 of these genesSCN1AAbout this report →
- Dyschromatosis Symmetrica HereditariaReads 1 of these genesADARAbout this report →
- FGFR3-Related Chondrodysplasias (Achondroplasia and Related Conditions)Reads 1 of these genesFGFR3About this report →
- Alzheimer diseaseReads 2 of these genesPSEN1TREM2About this report →
- Primary Mitochondrial DiseaseReads 10 of these genesATP5PONDUFA11NDUFV1SCO1SCO2COX16About this report →
- Other Inborn Errors of ImmunityReads 12 of these genesRFXANKRFXAPADARIFIH1RNASEH2ARNASEH2BAbout this report →
- Congenital Disorders of GlycosylationReads 8 of these genesCOG7COG1PGAP2ALG3COG5DHDDSAbout this report →
- Parkinson DiseaseReads 3 of these genesMAPTDNAJC6SYNJ1About this report →
- Intellectual DisabilityReads 11 of these genesRUSC2SLC16A2SYNGAP1CHAMP1CLTCCNKSR2About this report →
- Disorders of Glycine & Serine MetabolismReads 2 of these genesPHGDHSLC1A4About this report →
- Homocystinuria & Cobalamin DisordersReads 3 of these genesCBSMTRRMTHFRAbout this report →
- Type I InterferonopathiesReads 2 of these genesIFIH1TREX1About this report →
- Stargardt DiseaseReads 1 of these genesELOVL4About this report →
- Thyroid Hormone Resistance, Transport & Metabolism DefectsReads 1 of these genesSLC16A2About this report →
- Charcot-Marie-Tooth DiseaseReads 5 of these genesVCPSCO2AARS1MORC2SBF1About this report →
- Amyotrophic Lateral Sclerosis (ALS)Reads 3 of these genesVCPCHMP2BHNRNPA1About this report →
- Severe Combined ImmunodeficiencyReads 3 of these genesRFXANKRFXAPPRKDCAbout this report →
- Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)Reads 3 of these genesELOVL4ATP1A3CACNA1AAbout this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 3 of these genesATP1A3BCAP31PDE10AAbout this report →
- Adult-Onset Leukodystrophies (CSF1R, LMNB1, Nasu-Hakola)Reads 1 of these genesTREM2About this report →
- Hereditary Episodic AtaxiasReads 1 of these genesCACNA1AAbout this report →
- Moyamoya DiseaseReads 1 of these genesSAMHD1About this report →
- DNA Repair DiseaseReads 3 of these genesERCC6ERCC8ERCC4About this report →
- Systemic Lupus ErythematosusReads 1 of these genesTREX1About this report →
- Pelizaeus-Merzbacher Disease & Hypomyelinating LeukodystrophiesReads 2 of these genesVPS11TMEM106BAbout this report →
- Basal Ganglia CalcificationReads 1 of these genesMYORGAbout this report →
- Nephrotic SyndromeReads 2 of these genesNUP133PODXLAbout this report →
- Familial Glucocorticoid DeficiencyReads 1 of these genesMRAPAbout this report →
- Osteogenesis ImperfectaReads 2 of these genesIFIH1MBTPS2About this report →
- Neuronal Ceroid LipofuscinosisReads 1 of these genesGRNAbout this report →
- Zellweger Spectrum & Peroxisome Biogenesis DisordersReads 1 of these genesPEX16About this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 2 of these genesGRID2WDR81About this report →
- Lysosomal Storage DiseaseReads 2 of these genesGRNASAH1About this report →
- Cutis LaxaReads 1 of these genesATP6V1AAbout this report →
- Fanconi AnemiaReads 1 of these genesERCC4About this report →
- GPI Anchor Biosynthesis DefectsReads 1 of these genesPGAP2About this report →
- Autoimmune DiseaseReads 1 of these genesTREX1About this report →
- Leber Congenital Amaurosis & RPE65-Related RetinopathyReads 1 of these genesNMNAT1About this report →
- Syndromic CraniosynostosisReads 1 of these genesFGFR3About this report →
- Microphthalmia, Anophthalmia & ColobomaReads 1 of these genesRAB3GAP1About this report →
- Spinal Muscular AtrophyReads 1 of these genesASAH1About this report →
- Diabetes MellitusReads 1 of these genesMT-TL1About this report →
- Inherited ThrombocytopeniasReads 1 of these genesDIAPH1About this report →
- Hereditary Palmoplantar Keratodermas and Pachyonychia CongenitaReads 1 of these genesMBTPS2About this report →
- Joubert Syndrome And Related DisordersReads 1 of these genesKIF7About this report →
- Retinitis PigmentosaReads 1 of these genesDHDDSAbout this report →
- Hearing Loss and DeafnessReads 1 of these genesDIAPH1About this report →
Les genene knyttet til Brain degeneration, og resten av genomet ditt, med én test.
Fra 449 $Gratis frakt · Resultater på 6–8 uker
Få mitt Genome Test202 gener knyttet til Brain degeneration
Endringer i disse genene forårsaker sjeldne tilstander der Brain degeneration 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 |
|---|---|---|
| ATP5POATP synthase peripheral stalk subunit OSCP | Alltid | I 1 tilstand |
| CBScystathionine beta-synthase | Alltid | I 1 tilstand |
| COX11cytochrome c oxidase copper chaperone COX11 | Alltid | I 1 tilstand |
| COX8Acytochrome c oxidase subunit 8A | Alltid | I 1 tilstand |
| DNAJB4DnaJ heat shock protein family (Hsp40) member B4 | Alltid | I 1 tilstand |
| FBXO28F-box protein 28 | Alltid | I 2 tilstander |
| GLULglutamate-ammonia ligase | Alltid | I 1 tilstand |
| GOLGA2golgin A2 | Alltid | I 1 tilstand |
| GTPBP2GTP binding protein 2 | Alltid | I 1 tilstand |
| HTRA1HtrA serine peptidase 1 | Alltid | I 1 tilstand |
| INTS11integrator complex subunit 11 | Alltid | I 1 tilstand |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Alltid | I 1 tilstand |
| LRP12LDL receptor related protein 12 | Alltid | I 1 tilstand |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Alltid | I 2 tilstander |
| MRAPmelanocortin 2 receptor accessory protein | Alltid | I 1 tilstand |
| MYORGmyogenesis regulating glycosidase | Alltid | I 1 tilstand |
| NDUFA11NADH:ubiquinone oxidoreductase subunit A11 | Alltid | I 1 tilstand |
| NDUFV1NADH:ubiquinone oxidoreductase core subunit V1 | Alltid | I 1 tilstand |
| NECAP1NECAP endocytosis associated 1 | Alltid | I 2 tilstander |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Alltid | I 1 tilstand |
| NOTCH3notch receptor 3 | Alltid | I 2 tilstander |
| NUP133nucleoporin 133 | Alltid | I 1 tilstand |
| PHGDHphosphoglycerate dehydrogenase | Alltid | I 1 tilstand |
| RFXANKregulatory factor X associated ankyrin containing protein | Alltid | I 1 tilstand |
| RFXAPregulatory factor X associated protein | Alltid | I 1 tilstand |
| RNU4-2RNA, U4 small nuclear 2 | Alltid | I 1 tilstand |
| SCO1synthesis of cytochrome C oxidase 1 | Alltid | I 1 tilstand |
| VCPvalosin containing protein | Alltid | I 2 tilstander |
| VPS11VPS11 core subunit of CORVET and HOPS complexes | Alltid | I 1 tilstand |
| AFF3ALF transcription elongation factor 3 | Svært ofte (80–99 %) | I 1 tilstand |
| CHMP2Bcharged multivesicular body protein 2B | Svært ofte (80–99 %) | I 1 tilstand |
| COG7component of oligomeric golgi complex 7 | Svært ofte (80–99 %) | I 1 tilstand |
| EMC1ER membrane protein complex subunit 1 | Svært ofte (80–99 %) | I 1 tilstand |
| FGFR3fibroblast growth factor receptor 3 | Svært ofte (80–99 %) | I 1 tilstand |
| GRNgranulin precursor | Svært ofte (80–99 %) | I 1 tilstand |
| MAPTmicrotubule associated protein tau | Svært ofte (80–99 %) | I 1 tilstand |
| PSEN1presenilin 1 | Svært ofte (80–99 %) | I 1 tilstand |
| SCO2synthesis of cytochrome C oxidase 2 | Svært ofte (80–99 %) | I 1 tilstand |
| TMEM106Btransmembrane protein 106B | Svært ofte (80–99 %) | I 1 tilstand |
| TREM2triggering receptor expressed on myeloid cells 2 | Svært ofte (80–99 %) | I 1 tilstand |
Vis 162 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| ZNF335zinc finger protein 335 | Svært ofte (80–99 %) | I 1 tilstand |
| ADARadenosine deaminase RNA specific | Ofte (30–79 %) | I 1 tilstand |
| ARHGEF15Rho guanine nucleotide exchange factor 15 | Ofte (30–79 %) | I 1 tilstand |
| BORCS5BLOC-1 related complex subunit 5 | Ofte (30–79 %) | I 1 tilstand |
| COG1component of oligomeric golgi complex 1 | Ofte (30–79 %) | I 1 tilstand |
| COX16cytochrome c oxidase assembly factor COX16 | Ofte (30–79 %) | I 1 tilstand |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Ofte (30–79 %) | I 1 tilstand |
| DNM1dynamin 1 | Ofte (30–79 %) | I 2 tilstander |
| ECHS1enoyl-CoA hydratase, short chain 1 | Ofte (30–79 %) | I 1 tilstand |
| ELOVL4ELOVL fatty acid elongase 4 | Ofte (30–79 %) | I 1 tilstand |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Ofte (30–79 %) | I 2 tilstander |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Ofte (30–79 %) | I 1 tilstand |
| GEMIN4gem nuclear organelle associated protein 4 | Ofte (30–79 %) | I 1 tilstand |
| GRID2glutamate ionotropic receptor delta type subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| HID1HID1 domain containing | Ofte (30–79 %) | I 1 tilstand |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Ofte (30–79 %) | I 1 tilstand |
| HNRNPA2B1heterogeneous nuclear ribonucleoprotein A2/B1 | Ofte (30–79 %) | I 1 tilstand |
| IFIH1interferon induced with helicase C domain 1 | Ofte (30–79 %) | I 1 tilstand |
| LSM11LSM11, U7 small nuclear RNA associated | Ofte (30–79 %) | I 1 tilstand |
| MED11mediator complex subunit 11 | Ofte (30–79 %) | I 1 tilstand |
| MTRR5-methyltetrahydrofolate-homocysteine methyltransferase reductase | Ofte (30–79 %) | I 1 tilstand |
| NKX6-2NK6 homeobox 2 | Ofte (30–79 %) | I 1 tilstand |
| NTNG2netrin G2 | Ofte (30–79 %) | I 1 tilstand |
| PGAP2post-GPI attachment to proteins 2 | Ofte (30–79 %) | I 1 tilstand |
| PODXLpodocalyxin like | Ofte (30–79 %) | I 1 tilstand |
| PURApurine rich element binding protein A | Ofte (30–79 %) | I 1 tilstand |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| RARS2arginyl-tRNA synthetase 2, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| RBMXRNA binding motif protein X-linked | Ofte (30–79 %) | I 1 tilstand |
| RNASEH2Aribonuclease H2 subunit A | Ofte (30–79 %) | I 1 tilstand |
| RNASEH2Bribonuclease H2 subunit B | Ofte (30–79 %) | I 1 tilstand |
| RNASEH2Cribonuclease H2 subunit C | Ofte (30–79 %) | I 1 tilstand |
| RNU7-1RNA, U7 small nuclear 1 | Ofte (30–79 %) | I 1 tilstand |
| RUSC2RUN and SH3 domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Ofte (30–79 %) | I 1 tilstand |
| SERAC1serine active site containing 1 | Ofte (30–79 %) | I 1 tilstand |
| SLC16A2solute carrier family 16 member 2 | Ofte (30–79 %) | I 1 tilstand |
| SLC1A4solute carrier family 1 member 4 | Ofte (30–79 %) | I 1 tilstand |
| SLC25A22solute carrier family 25 member 22 | Ofte (30–79 %) | I 1 tilstand |
| SMG9SMG9 nonsense mediated mRNA decay factor | Ofte (30–79 %) | I 1 tilstand |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Ofte (30–79 %) | I 2 tilstander |
| SYNJ1synaptojanin 1 | Ofte (30–79 %) | I 2 tilstander |
| TPRKBTP53RK binding protein | Ofte (30–79 %) | I 1 tilstand |
| TREX1three prime repair exonuclease 1 | Ofte (30–79 %) | I 1 tilstand |
| TRMT5tRNA methyltransferase 5 | Ofte (30–79 %) | I 1 tilstand |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Ofte (30–79 %) | I 2 tilstander |
| WDR73WD repeat domain 73 | Ofte (30–79 %) | I 1 tilstand |
| ZNF592zinc finger protein 592 | Ofte (30–79 %) | I 1 tilstand |
| ZNF668zinc finger protein 668 | Ofte (30–79 %) | I 1 tilstand |
| AARS1alanyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ACTL6Bactin like 6B | Noen ganger (5–29 %) | I 1 tilstand |
| ADAT3adenosine deaminase tRNA specific 3 | Noen ganger (5–29 %) | I 2 tilstander |
| AFG2AAAA ATPase AFG2A | Noen ganger (5–29 %) | I 1 tilstand |
| ALDH7A1aldehyde dehydrogenase 7 family member A1 | Noen ganger (5–29 %) | I 1 tilstand |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ASAH1N-acylsphingosine amidohydrolase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Noen ganger (5–29 %) | I 1 tilstand |
| ATP6V1AATPase H+ transporting V1 subunit A | Noen ganger (5–29 %) | I 1 tilstand |
| AXIN1axin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| BCAP31B cell receptor associated protein 31 | Noen ganger (5–29 %) | I 1 tilstand |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Noen ganger (5–29 %) | I 1 tilstand |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Noen ganger (5–29 %) | I 1 tilstand |
| CACNA1Icalcium voltage-gated channel subunit alpha1 I | Noen ganger (5–29 %) | I 1 tilstand |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CDK19cyclin dependent kinase 19 | Noen ganger (5–29 %) | I 1 tilstand |
| CELF2CUGBP Elav-like family member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CHAMP1chromosome alignment maintaining phosphoprotein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CLTCclathrin heavy chain | Noen ganger (5–29 %) | I 1 tilstand |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Noen ganger (5–29 %) | I 1 tilstand |
| COG5component of oligomeric golgi complex 5 | Noen ganger (5–29 %) | I 1 tilstand |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| DALRD3DALR anticodon binding domain containing 3 | Noen ganger (5–29 %) | I 1 tilstand |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Noen ganger (5–29 %) | I 1 tilstand |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Noen ganger (5–29 %) | I 1 tilstand |
| DIAPH1diaphanous related formin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DOT1LDOT1 like histone lysine methyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| DPH5diphthamide biosynthesis 5 | Noen ganger (5–29 %) | I 1 tilstand |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Noen ganger (5–29 %) | I 1 tilstand |
| EPM2AEPM2A glucan phosphatase, laforin | Noen ganger (5–29 %) | I 1 tilstand |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| FBXO22F-box protein 22 | Noen ganger (5–29 %) | I 1 tilstand |
| FGF12fibroblast growth factor 12 | Noen ganger (5–29 %) | I 1 tilstand |
| FOXG1forkhead box G1 | Noen ganger (5–29 %) | I 1 tilstand |
| FTOFTO alpha-ketoglutarate dependent dioxygenase | Noen ganger (5–29 %) | I 1 tilstand |
| FZR1fizzy and cell division cycle 20 related 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Noen ganger (5–29 %) | I 1 tilstand |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Noen ganger (5–29 %) | I 1 tilstand |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Noen ganger (5–29 %) | I 1 tilstand |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Noen ganger (5–29 %) | I 1 tilstand |
| GLYCTKglycerate kinase | Noen ganger (5–29 %) | I 1 tilstand |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Noen ganger (5–29 %) | I 1 tilstand |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNQ5potassium voltage-gated channel subfamily Q member 5 | Noen ganger (5–29 %) | I 1 tilstand |
| LYSTlysosomal trafficking regulator | Noen ganger (5–29 %) | I 1 tilstand |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| MORC2MORC family CW-type zinc finger 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Noen ganger (5–29 %) | I 1 tilstand |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Noen ganger (5–29 %) | I 1 tilstand |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Noen ganger (5–29 %) | I 1 tilstand |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Noen ganger (5–29 %) | I 1 tilstand |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Noen ganger (5–29 %) | I 1 tilstand |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Noen ganger (5–29 %) | I 1 tilstand |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Noen ganger (5–29 %) | I 1 tilstand |
| MTHFRmethylenetetrahydrofolate reductase | Noen ganger (5–29 %) | I 1 tilstand |
| NARS1asparaginyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NAXENAD(P)HX epimerase | Noen ganger (5–29 %) | I 2 tilstander |
| NHLRC1NHL repeat containing E3 ubiquitin protein ligase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Noen ganger (5–29 %) | I 1 tilstand |
| PACS2phosphofurin acidic cluster sorting protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Noen ganger (5–29 %) | I 1 tilstand |
| PEX16peroxisomal biogenesis factor 16 | Noen ganger (5–29 %) | I 1 tilstand |
| PLPBPpyridoxal phosphate binding protein | Noen ganger (5–29 %) | I 2 tilstander |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Noen ganger (5–29 %) | I 1 tilstand |
| PRKDCprotein kinase, DNA-activated, catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| PUS7pseudouridine synthase 7 | Noen ganger (5–29 %) | I 1 tilstand |
| SBF1SET binding factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Noen ganger (5–29 %) | I 1 tilstand |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC13A5solute carrier family 13 member 5 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC1A2solute carrier family 1 member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC38A3solute carrier family 38 member 3 | Noen ganger (5–29 %) | I 1 tilstand |
| SMG8SMG8 nonsense mediated mRNA decay factor | Noen ganger (5–29 %) | I 1 tilstand |
| STAG1STAG1 cohesin complex component | Noen ganger (5–29 %) | I 1 tilstand |
| SZT2SZT2 subunit of KICSTOR complex | Noen ganger (5–29 %) | I 1 tilstand |
| TRAK1trafficking kinesin protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| UBA5ubiquitin like modifier activating enzyme 5 | Noen ganger (5–29 %) | I 1 tilstand |
| UFSP2UFM1 specific peptidase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| USP9Xubiquitin specific peptidase 9 X-linked | Noen ganger (5–29 %) | I 1 tilstand |
| YME1L1YME1 like 1 ATPase | Noen ganger (5–29 %) | I 1 tilstand |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Noen ganger (5–29 %) | I 1 tilstand |
| ACBD6acyl-CoA binding domain containing 6 | Sjelden (1–4%) | I 1 tilstand |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Sjelden (1–4%) | I 1 tilstand |
| ASPAaspartoacylase | Ikke registrert | I 1 tilstand |
| EXOC8exocyst complex component 8 | Ikke registrert | I 1 tilstand |
| ITPAinosine triphosphatase | Ikke registrert | I 1 tilstand |
| KIF7kinesin family member 7 | Ikke registrert | I 1 tilstand |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Ikke registrert | I 1 tilstand |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Ikke registrert | I 1 tilstand |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Ikke registrert | I 1 tilstand |
| NDUFV2NADH:ubiquinone oxidoreductase core subunit V2 | Ikke registrert | I 1 tilstand |
| PDE10Aphosphodiesterase 10A | Ikke registrert | I 1 tilstand |
| TBC1D32TBC1 domain family member 32 | Ikke registrert | I 1 tilstand |
| TBCKTBC1 domain containing kinase | Ikke registrert | I 1 tilstand |
| TRAPPC4trafficking protein particle complex subunit 4 | Ikke registrert | I 1 tilstand |
| WDR81WD repeat domain 81 | Ikke registrert | I 1 tilstand |
| ZC4H2zinc finger C4H2-type containing | 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.
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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 2026.10.17-8666dff2.
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