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Træk
Cognitive impairment
Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering.
Resumé
- Også kaldet
- Abnormality of cognition, Cognitive abnormality, Cognitive defects, Cognitive deficits, Intellectual impairment
- Kropssystem
- Abnormality of the nervous system
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Denne side som data
Tilføj .json til sidens adresse, eller bed om application/json, for at læse den som JSON.
library(jsonlite)
url <- "https://dantelabs.com/traits/cognitive-impairment.json"
page <- fromJSON(url)
page$trait$nameCognitive impairmentHP:0100543
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Log indSpørgSekvenér dit genom↗
Læs de gener, der er knyttet til Cognitive impairment, og resten af dit genom, med én test.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger
Bestil min Genome Test186 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.
- Inherited Neurodegenerative DisordersReads 109 of these genesABCB7SQSTM1ATP13A2BSCL2CHCHD10COASYAbout this report →
- Bardet-Biedl and Alström SyndromesReads 23 of these genesLZTFL1ARL6BBIP1BBS1BBS10BBS12About this report →
- Amyotrophic Lateral Sclerosis (ALS)Reads 25 of these genesSQSTM1CHCHD10ANGANXA11CCNFCHMP2BAbout this report →
- Zellweger Spectrum & Peroxisome Biogenesis DisordersReads 13 of these genesPEX1PEX10PEX11BPEX12PEX13PEX14About this report →
Show 182 more reports
- Rare Hereditary Peripheral NeuropathiesReads 47 of these genesBSCL2CHCHD10PEX1PEX10PEX11BPEX12About this report →
- Epilepsy (Full Panel)Reads 37 of these genesKCNQ2KCNT1PIGAPLCB1SCN1ASCN2AAbout this report →
- Parkinson DiseaseReads 10 of these genesATP13A2FBXO7SNCADNAJC6LRRK2PARK7About this report →
- Other Inherited LeukodystrophiesReads 23 of these genesPEX1PEX10PEX11BPEX12PEX13PEX14About this report →
- Hereditary Spastic ParaplegiaReads 20 of these genesATP13A2BSCL2PLP1AP5Z1FA2HGBA2About this report →
- Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)Reads 14 of these genesITPR1ATN1ATXN1ATXN2KCNC3STUB1About this report →
- Frontotemporal DementiaReads 8 of these genesSQSTM1CHCHD10CCNFCHMP2BHNRNPA1HNRNPA2B1About this report →
- Congenital Muscular DystrophiesReads 10 of these genesB3GALNT2CRPPAFKRPFKTNGMPPBLARGE1About this report →
- Primary Mitochondrial DiseaseReads 21 of these genesDNA2MT-TPMTRFRPOLGAFG3L2AIFM1About this report →
- Hereditary Optic NeuropathyReads 6 of these genesMT-ND5AFG3L2ATP1A3DNM1LOPA1OPA3About this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 12 of these genesPEX6CEP290CYP27A1GRID2MKS1PMPCAAbout this report →
- Neurodegeneration with Brain Iron Accumulation (NBIA)Reads 5 of these genesATP13A2COASYFTLCPPANK2About this report →
- DNA Repair DiseaseReads 10 of these genesDDB2ERCC2ERCC3ERCC4ERCC5XPAAbout this report →
- Adult-Onset Leukodystrophies (CSF1R, LMNB1, Nasu-Hakola)Reads 3 of these genesTREM2CSF1RLMNB1About this report →
- Cerebral Cavernous MalformationReads 3 of these genesCCM2KRIT1PDCD10About this report →
- Cerebral Arteriopathy with Subcortical Infarcts and LeukoencephalopathyReads 2 of these genesNOTCH3HTRA1About this report →
- Cowden Syndrome (PTEN hamartoma tumour syndrome)Reads 2 of these genesPTENAKT1About this report →
- Sandhoff Disease and GM2 Activator DeficiencyReads 2 of these genesGM2AHEXBAbout this report →
- Tuberous SclerosisReads 2 of these genesTSC1TSC2About this report →
- Distal MyopathiesReads 6 of these genesHNRNPA1HNRNPA2B1LRP12MATR3VCPGNEAbout this report →
- Alzheimer diseaseReads 3 of these genesTREM2APOEPSEN2About this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 8 of these genesSLC18A2PNKPSPRATP1A3KMT2BPRKRAAbout this report →
- Hereditary Sensory and Autonomic Neuropathies (incl. Familial Dysautonomia)Reads 6 of these genesCLCF1CRLF1SCN9AAIFM1SPTLC1SPTLC2About this report →
- Lysosomal Storage DiseaseReads 10 of these genesGM2AAP5Z1CLN8CYP27A1GLAGNPTABAbout this report →
- Leigh SyndromeReads 10 of these genesMT-ND5MT-TKMTRFRAIFM1GTPBP3OPA1About this report →
- Rhabdoid Tumour and SWI/SNF Tumour PredispositionReads 2 of these genesSMARCB1SMARCE1About this report →
- Charcot-Marie-Tooth DiseaseReads 10 of these genesBSCL2DCTN1FIG4NEFHVCPAIFM1About this report →
- Congenital Disorders of GlycosylationReads 11 of these genesCRPPAFKRPFKTNGMPPBPIGAPOMGNT1About this report →
- Limb-Girdle Muscular DystrophyReads 6 of these genesFKRPFKTNGMPPBPOMGNT1TRIM32LAMA2About this report →
- Hereditary Hypotrichosis, Woolly Hair and MonilethrixReads 4 of these genesDSG4KRT81KRT83KRT86About this report →
- Multiple Synostoses Syndrome (FGF9)Reads 2 of these genesGDF5GDF6About this report →
- NeurofibromatosisReads 2 of these genesNF2SMARCB1About this report →
- 3-Methylglutaconic Aciduria Type 1Reads 1 of these genesAUHAbout this report →
- 3-Methylglutaconic Aciduria Type 8 (HTRA2)Reads 1 of these genesHTRA2About this report →
- Aarskog-Scott SyndromeReads 1 of these genesFGD1About this report →
- Amyotrophic Lateral Sclerosis Susceptibility 24 (NEK1)Reads 1 of these genesNEK1About this report →
- Ataxia-TelangiectasiaReads 1 of these genesATMAbout this report →
- BAP1 Tumour Predisposition SyndromeReads 1 of these genesBAP1About this report →
- Brain Abnormalities, Neurodegeneration and Dysosteosclerosis (BANDDOS)Reads 1 of these genesCSF1RAbout this report →
- CEP290-Related CiliopathyReads 1 of these genesCEP290About this report →
- Cerebrotendinous XanthomatosisReads 1 of these genesCYP27A1About this report →
- Chediak-Higashi syndromeReads 1 of these genesLYSTAbout this report →
- CHRNG-Related Multiple Pterygium SyndromeReads 1 of these genesCHRNGAbout this report →
- COL4A1-Related DisorderReads 1 of these genesCOL4A1About this report →
- Congenital Central Hypoventilation SyndromeReads 1 of these genesPHOX2BAbout this report →
- Curry-Jones Syndrome (Mosaic SMO Syndrome)Reads 1 of these genesSMOAbout this report →
- CYP7B1-Related Spastic Paraplegia and Liver DiseaseReads 1 of these genesCYP7B1About this report →
- CystinosisReads 1 of these genesCTNSAbout this report →
- DCC-Related Mirror Movements and Agenesis of the Corpus CallosumReads 1 of these genesDCCAbout this report →
- Deficiency of Adenosine Deaminase 2 (DADA2)Reads 1 of these genesADA2About this report →
- Dravet SyndromeReads 1 of these genesSCN1AAbout this report →
- Dystrophinopathies (Duchenne and Becker Muscular Dystrophy)Reads 1 of these genesDMDAbout this report →
- Fabry DiseaseReads 1 of these genesGLAAbout this report →
- FGFR3-Related Chondrodysplasias (Achondroplasia and Related Conditions)Reads 1 of these genesFGFR3About this report →
- Focal Dermal Hypoplasia (Goltz Syndrome)Reads 1 of these genesPORCNAbout this report →
- Genetic Prion Disease (incl. Fatal Familial Insomnia)Reads 1 of these genesPRNPAbout this report →
- Horizontal Gaze Palsy with Progressive ScoliosisReads 1 of these genesROBO3About this report →
- HyperlysinaemiaReads 1 of these genesAASSAbout this report →
- KCNQ2-Related Neonatal Encephalopathy with Non-Epileptic MyoclonusReads 1 of these genesKCNQ2About this report →
- KDM1A-Related Neurodevelopmental DisorderReads 1 of these genesKDM1AAbout this report →
- KIF5A-Related Amyotrophic Lateral SclerosisReads 1 of these genesKIF5AAbout this report →
- L1 SyndromeReads 1 of these genesL1CAMAbout this report →
- Li-Fraumeni SyndromeReads 1 of these genesTP53About this report →
- Microcephalic Osteodysplastic Primordial Dwarfism Type IIReads 1 of these genesPCNTAbout this report →
- NFIA-Related Brain MalformationsReads 1 of these genesNFIAAbout this report →
- OPA1-Related Optic AtrophyReads 1 of these genesOPA1About this report →
- OPTN-Related Normal-Tension GlaucomaReads 1 of these genesOPTNAbout this report →
- Primary Microcephaly 26 (LMNB1)Reads 1 of these genesLMNB1About this report →
- SPTBN1-Related Neurodevelopmental DisorderReads 1 of these genesSPTBN1About this report →
- UNC13A-Related Neurodevelopmental DisordersReads 1 of these genesUNC13AAbout this report →
- X-Linked Adrenoleukodystrophy (ABCD1)Reads 1 of these genesABCD1About this report →
- X-linked Autoinflammatory DiseaseReads 1 of these genesIKBKGAbout this report →
- Spinal Muscular AtrophyReads 5 of these genesBSCL2CHCHD10DCTN1SIGMAR1UBA1About this report →
- BH4 Deficiency & Monoamine Neurotransmitter DisordersReads 3 of these genesMAOASLC18A2SPRAbout this report →
- MTOR Pathway Megalencephaly and Overgrowth DisordersReads 2 of these genesPIK3CAMTORAbout this report →
- Autoimmune DiseaseReads 4 of these genesFASTREX1CHRNGSAT1About this report →
- Urea Cycle DisorderReads 3 of these genesSLC25A15SLC7A7NAGSAbout this report →
- Urinary and Renal System TumourReads 3 of these genesBAP1TP53SDHAAbout this report →
- Syndromic Complex Neurodevelopmental DisorderReads 4 of these genesBRPF1SETD5TBCKTRAF7About this report →
- Cornelia de Lange SyndromeReads 2 of these genesSMC1ASMC3About this report →
- Systemic Lupus ErythematosusReads 2 of these genesTREX1SAT1About this report →
- Basal Ganglia CalcificationReads 2 of these genesPDGFBXPR1About this report →
- Monogenic Obesity (Leptin-Melanocortin Pathway)Reads 2 of these genesSIM1CEP19About this report →
- Nephrotic SyndromeReads 4 of these genesNUP107NUP133NUP85PODXLAbout this report →
- Hereditary Sideroblastic AnaemiasReads 2 of these genesABCB7GLRX5About this report →
- Malignant Endocrine NeoplasmReads 2 of these genesTP53SDHAAbout this report →
- Age-Related Macular DegenerationReads 1 of these genesCFHAbout this report →
- Congenital Intestinal Atresia & Short BowelReads 1 of these genesCLMPAbout this report →
- Dent Disease and Lowe SyndromeReads 1 of these genesOCRLAbout this report →
- DOORS SyndromeReads 1 of these genesTBC1D24About this report →
- Encephalopathy due to Mitochondrial and Peroxisomal Fission DefectReads 1 of these genesDNM1LAbout this report →
- Fibrodysplasia Ossificans ProgressivaReads 1 of these genesGNASAbout this report →
- Fontaine Progeroid SyndromeReads 1 of these genesSLC25A4About this report →
- Myotonic DystrophyReads 1 of these genesCNBPAbout this report →
- Neuroblastoma Predisposition (ALK and PHOX2B)Reads 1 of these genesPHOX2BAbout this report →
- Nevoid Basal Cell Carcinoma (Gorlin) SyndromeReads 1 of these genesSUFUAbout this report →
- Retinitis PigmentosaReads 6 of these genesPOMGNT1ARL6BBS2CFAP418IFT172TTC8About this report →
- Complex Neurodevelopmental Disorder With Motor FeaturesReads 2 of these genesKMT2BADD3About this report →
- Imprinting Disorders: Prader-Willi, Silver-Russell and Beckwith-WiedemannReads 2 of these genesNSD1MAGEL2About this report →
- Kidney CancerReads 2 of these genesBAP1TP53About this report →
- Joubert Syndrome And Related DisordersReads 4 of these genesCEP290MKS1NPHP1SUFUAbout this report →
- Polycystic Kidney DiseaseReads 2 of these genesDZIP1LPKHD1About this report →
- Intellectual DisabilityReads 9 of these genesBRPF1SCN2ASETD5ERBB4PCDH19RAI1About this report →
- Coffin-Siris SyndromeReads 2 of these genesSMARCB1SMARCE1About this report →
- Cerebral Creatine Deficiency SyndromesReads 1 of these genesGATMAbout this report →
- Familial Hemiplegic MigraineReads 1 of these genesSCN1AAbout this report →
- Hirschsprung Disease & Related Enteric NeurocristopathiesReads 1 of these genesPHOX2BAbout this report →
- Immuno-Osseous DysplasiasReads 1 of these genesRMRPAbout this report →
- MedulloblastomaReads 1 of these genesSUFUAbout this report →
- Mucolipidoses (ML II, ML III and ML IV)Reads 1 of these genesGNPTABAbout this report →
- Female InfertilityReads 4 of these genesNUP107ATMLARS2TWNKAbout this report →
- Other Inborn Errors of ImmunityReads 8 of these genesFASTREX1ATMIKBKGLYSTRMRPAbout this report →
- Neuronal Ceroid LipofuscinosisReads 2 of these genesATP13A2CLN8About this report →
- Glycogen Storage DiseaseReads 2 of these genesGBE1SLC37A4About this report →
- Rare Monogenic Autoinflammatory DiseasesReads 3 of these genesADA2TREX1SKIC3About this report →
- Cutis LaxaReads 2 of these genesLTBP4RIN2About this report →
- Achondrogenesis panelReads 1 of these genesGDF5About this report →
- Carney Complex & Hereditary Adrenal Cushing SyndromeReads 1 of these genesARMC5About this report →
- Familial Paget Disease of BoneReads 1 of these genesSQSTM1About this report →
- Fanconi Renotubular Syndrome and Renal GlucosuriaReads 1 of these genesGATMAbout this report →
- Hereditary Episodic AtaxiasReads 1 of these genesSCN2AAbout this report →
- Inherited Iron Metabolism DisordersReads 1 of these genesCPAbout this report →
- Overgrowth Syndromes (Sotos, Weaver, Tatton-Brown-Rahman, Malan)Reads 1 of these genesNSD1About this report →
- Pseudohypoparathyroidism & GNAS-Inactivation DisordersReads 1 of these genesGNASAbout this report →
- Autosomal Recessive Primary MicrocephalyReads 2 of these genesCEP152CPAPAbout this report →
- Nephronophthisis and Senior-Løken SyndromeReads 2 of these genesNPHP1SDCCAG8About this report →
- Periventricular Nodular HeterotopiaReads 1 of these genesFLNAAbout this report →
- Sclerosing Bone Dysplasias (High Bone Mass)Reads 1 of these genesSOSTAbout this report →
- Noonan SyndromeReads 2 of these genesSPRED1BRAFAbout this report →
- Dilated CardiomyopathyReads 3 of these genesDMDFKTNSYNE1About this report →
- Syndromic CraniosynostosisReads 2 of these genesFGFR3SMOAbout this report →
- Hereditary Visceral Myopathy, CIPO & MMIHSReads 1 of these genesFLNAAbout this report →
- Syndromic and Metabolic CardiomyopathiesReads 1 of these genesSLC25A4About this report →
- Hearing Loss and DeafnessReads 4 of these genesKARS1TBC1D24GJB2AIFM1About this report →
- Pelizaeus-Merzbacher Disease & Hypomyelinating LeukodystrophiesReads 2 of these genesPLP1GJC2About this report →
- Hypertrophic CardiomyopathyReads 3 of these genesNSD1SPRED1BRAFAbout this report →
- Microphthalmia, Anophthalmia & ColobomaReads 2 of these genesERCC2ERCC5About this report →
- Alpha-Mannosidosis and Other GlycoproteinosesReads 1 of these genesNAGAAbout this report →
- Autoimmune Lymphoproliferative Syndrome (ALPS)Reads 1 of these genesFASAbout this report →
- Classic Organic AciduriasReads 1 of these genesGCDHAbout this report →
- Inherited Parathyroid & Calcium-Sensing DisordersReads 1 of these genesGNA11About this report →
- Inherited Predisposition to Acute Myeloid LeukaemiaReads 1 of these genesTERTAbout this report →
- Waardenburg SyndromeReads 1 of these genesEDN3About this report →
- Diabetes MellitusReads 2 of these genesBSCL2MT-TL1About this report →
- Thyroid CancerReads 2 of these genesGNA11GNASAbout this report →
- Aicardi-Goutieres SyndromeReads 1 of these genesTREX1About this report →
- GlaucomaReads 1 of these genesOPTNAbout this report →
- Hepatic Porphyria DisordersReads 1 of these genesHMBSAbout this report →
- Anterior Segment Dysgenesis, Axenfeld-Rieger Syndrome & AniridiaReads 1 of these genesITPR1About this report →
- Breast and Ovarian Cancer Genes Beyond BRCA1/2Reads 1 of these genesATMAbout this report →
- Familial Pulmonary FibrosisReads 1 of these genesTERTAbout this report →
- Hemolytic Uremic Syndrome, Interstitial NephritisReads 1 of these genesCFHAbout this report →
- PorphyriaReads 1 of these genesHMBSAbout this report →
- Hereditary Pheochromocytoma and ParagangliomaReads 1 of these genesSDHAAbout this report →
- Marfan Like SyndromesReads 1 of these genesFBN1About this report →
- Meckel SyndromeReads 1 of these genesMKS1About this report →
- Usher SyndromeReads 1 of these genesADGRV1About this report →
- LipodystrophyReads 1 of these genesBSCL2About this report →
- Type I InterferonopathiesReads 1 of these genesTREX1About this report →
- Aortic AneurysmReads 1 of these genesFBN1About this report →
- HyperlipidemiaReads 1 of these genesAPOEAbout this report →
- Inherited Congenital Heart DefectsReads 1 of these genesFLNAAbout this report →
- Complex Cortical Dysplasia and Frontoparietal PolymicrogyriaReads 1 of these genesTUBB2BAbout this report →
- Primary Lymphoedema & Lymphatic MalformationsReads 1 of these genesGJC2About this report →
- Ectodermal DysplasiasReads 1 of these genesIKBKGAbout this report →
- Fanconi AnemiaReads 1 of these genesERCC4About this report →
- Congenital Stationary Night BlindnessReads 1 of these genesCABP4About this report →
- GPI Anchor Biosynthesis DefectsReads 1 of these genesPIGAAbout this report →
- Homocystinuria & Cobalamin DisordersReads 1 of these genesMTHFRAbout this report →
- Neonatal Diabetes MellitusReads 1 of these genesBSCL2About this report →
- Leber Congenital Amaurosis & RPE65-Related RetinopathyReads 1 of these genesCEP290About this report →
- Pontocerebellar Hypoplasia (TSEN54 and MINPP1)Reads 1 of these genesCOASYAbout this report →
- Dyskeratosis CongenitaReads 1 of these genesTERTAbout this report →
- Hereditary Congenital & Juvenile CataractReads 1 of these genesFTLAbout this report →
- Lissencephaly Spectrum DisordersReads 1 of these genesDCXAbout this report →
- Non-Acquired Combined Pituitary Hormone DeficiencyReads 1 of these genesSMOAbout this report →
- Congenital Myasthenic SyndromeReads 1 of these genesGMPPBAbout this report →
- VitreoretinopathyReads 1 of these genesIKBKGAbout this report →
- Inherited ThrombocytopeniasReads 1 of these genesGNEAbout this report →
- Osteogenesis ImperfectaReads 1 of these genesPPIBAbout this report →
- Hereditary Palmoplantar Keratodermas and Pachyonychia CongenitaReads 1 of these genesGJB2About this report →
- Hypogonadotropic HypogonadismReads 1 of these genesMAGEL2About this report →
Læs de gener, der er knyttet til Cognitive impairment, og resten af dit genom, med én test.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger
Bestil min Genome Test407 gener knyttet til Cognitive impairment
Ændringer i disse gener forårsager sjældne tilstande, hvor Cognitive impairment ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| ABCB7ATP binding cassette subfamily B member 7 | Altid | I 2 tilstande |
| COA3cytochrome c oxidase assembly factor 3 | Altid | I 1 tilstand |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Altid | I 1 tilstand |
| GBE11,4-alpha-glucan branching enzyme 1 | Altid | I 1 tilstand |
| KARS1lysyl-tRNA synthetase 1 | Altid | I 1 tilstand |
| LZTFL1leucine zipper transcription factor like 1 | Altid | I 2 tilstande |
| NIT1nitrilase 1 | Altid | I 1 tilstand |
| NOTCH3notch receptor 3 | Altid | I 2 tilstande |
| NSD1nuclear receptor binding SET domain protein 1 | Altid | I 1 tilstand |
| PLAAphospholipase A2 activating protein | Altid | I 1 tilstand |
| SQSTM1sequestosome 1 | Altid | I 2 tilstande |
| ATP13A2ATPase cation transporting 13A2 | Meget ofte (80–99 %) | I 3 tilstande |
| ATRATR checkpoint kinase | Meget ofte (80–99 %) | I 1 tilstand |
| ATRIPATR interacting protein | Meget ofte (80–99 %) | I 1 tilstand |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Meget ofte (80–99 %) | I 1 tilstand |
| BRPF1bromodomain and PHD finger containing 1 | Meget ofte (80–99 %) | I 1 tilstand |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Meget ofte (80–99 %) | I 1 tilstand |
| CENPEcentromere protein E | Meget ofte (80–99 %) | I 1 tilstand |
| CEP152centrosomal protein 152 | Meget ofte (80–99 %) | I 1 tilstand |
| CEP295centrosomal protein 295 | Meget ofte (80–99 %) | I 1 tilstand |
| CEP63centrosomal protein 63 | Meget ofte (80–99 %) | I 1 tilstand |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Meget ofte (80–99 %) | I 2 tilstande |
| COASYCoenzyme A synthase | Meget ofte (80–99 %) | I 1 tilstand |
| CPAPcentrosome assembly and centriole elongation protein | Meget ofte (80–99 %) | I 1 tilstand |
| CRPPACDP-L-ribitol pyrophosphorylase A | Meget ofte (80–99 %) | I 1 tilstand |
| DCXdoublecortin | Meget ofte (80–99 %) | I 1 tilstand |
| DDB2damage specific DNA binding protein 2 | Meget ofte (80–99 %) | I 1 tilstand |
| DMDdystrophin | Meget ofte (80–99 %) | I 1 tilstand |
| DNA2DNA replication helicase/nuclease 2 | Meget ofte (80–99 %) | I 1 tilstand |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Meget ofte (80–99 %) | I 1 tilstand |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Meget ofte (80–99 %) | I 1 tilstand |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Meget ofte (80–99 %) | I 1 tilstand |
| ERCC5ERCC excision repair 5, endonuclease | Meget ofte (80–99 %) | I 1 tilstand |
| FASFas cell surface death receptor | Meget ofte (80–99 %) | I 1 tilstand |
| FGFR3fibroblast growth factor receptor 3 | Meget ofte (80–99 %) | I 1 tilstand |
| FKRPfukutin related protein | Meget ofte (80–99 %) | I 1 tilstand |
| FKTNfukutin | Meget ofte (80–99 %) | I 1 tilstand |
| FTLferritin light chain | Meget ofte (80–99 %) | I 1 tilstand |
| GATMglycine amidinotransferase | Meget ofte (80–99 %) | I 1 tilstand |
| GM2Aganglioside GM2 activator | Meget ofte (80–99 %) | I 1 tilstand |
Vis 367 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| GMPPBGDP-mannose pyrophosphorylase B | Meget ofte (80–99 %) | I 2 tilstande |
| GON7GON7 subunit of KEOPS complex | Meget ofte (80–99 %) | I 1 tilstand |
| HLA-Bmajor histocompatibility complex, class I, B | Meget ofte (80–99 %) | I 1 tilstand |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Meget ofte (80–99 %) | I 1 tilstand |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Meget ofte (80–99 %) | I 2 tilstande |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Meget ofte (80–99 %) | I 1 tilstand |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Meget ofte (80–99 %) | I 2 tilstande |
| LAGE3L antigen family member 3 | Meget ofte (80–99 %) | I 1 tilstand |
| LAMA1laminin subunit alpha 1 | Meget ofte (80–99 %) | I 1 tilstand |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| LTBP4latent transforming growth factor beta binding protein 4 | Meget ofte (80–99 %) | I 1 tilstand |
| MAOAmonoamine oxidase A | Meget ofte (80–99 %) | I 1 tilstand |
| NINninein | Meget ofte (80–99 %) | I 1 tilstand |
| NSMCE2NSE2 SUMO ligase component of SMC5/6 complex | Meget ofte (80–99 %) | I 1 tilstand |
| NUP107nucleoporin 107 | Meget ofte (80–99 %) | I 1 tilstand |
| NUP133nucleoporin 133 | Meget ofte (80–99 %) | I 1 tilstand |
| NUP85nucleoporin 85 | Meget ofte (80–99 %) | I 1 tilstand |
| OSGEPO-sialoglycoprotein endopeptidase | Meget ofte (80–99 %) | I 1 tilstand |
| PCNTpericentrin | Meget ofte (80–99 %) | I 1 tilstand |
| PEX1peroxisomal biogenesis factor 1 | Meget ofte (80–99 %) | I 1 tilstand |
| PEX10peroxisomal biogenesis factor 10 | Meget ofte (80–99 %) | I 1 tilstand |
| PEX11Bperoxisomal biogenesis factor 11 beta | Meget ofte (80–99 %) | I 1 tilstand |
| PEX12peroxisomal biogenesis factor 12 | Meget ofte (80–99 %) | I 1 tilstand |
| PEX13peroxisomal biogenesis factor 13 | Meget ofte (80–99 %) | I 1 tilstand |
| PEX14peroxisomal biogenesis factor 14 | Meget ofte (80–99 %) | I 1 tilstand |
| PEX16peroxisomal biogenesis factor 16 | Meget ofte (80–99 %) | I 1 tilstand |
| PEX19peroxisomal biogenesis factor 19 | Meget ofte (80–99 %) | I 1 tilstand |
| PEX2peroxisomal biogenesis factor 2 | Meget ofte (80–99 %) | I 1 tilstand |
| PEX26peroxisomal biogenesis factor 26 | Meget ofte (80–99 %) | I 1 tilstand |
| PEX3peroxisomal biogenesis factor 3 | Meget ofte (80–99 %) | I 1 tilstand |
| PEX5peroxisomal biogenesis factor 5 | Meget ofte (80–99 %) | I 1 tilstand |
| PEX6peroxisomal biogenesis factor 6 | Meget ofte (80–99 %) | I 1 tilstand |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Meget ofte (80–99 %) | I 1 tilstand |
| PLCB1phospholipase C beta 1 | Meget ofte (80–99 %) | I 1 tilstand |
| PLK4polo like kinase 4 | Meget ofte (80–99 %) | I 1 tilstand |
| PLP1proteolipid protein 1 | Meget ofte (80–99 %) | I 2 tilstande |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Meget ofte (80–99 %) | I 1 tilstand |
| POMT1protein O-mannosyltransferase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| POMT2protein O-mannosyltransferase 2 | Meget ofte (80–99 %) | I 2 tilstande |
| PRNPprion protein (Kanno blood group) | Meget ofte (80–99 %) | I 4 tilstande |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Meget ofte (80–99 %) | I 1 tilstand |
| RBBP8RB binding protein 8, endonuclease | Meget ofte (80–99 %) | I 1 tilstand |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Meget ofte (80–99 %) | I 3 tilstande |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Meget ofte (80–99 %) | I 3 tilstande |
| SETD5SET domain containing 5 | Meget ofte (80–99 %) | I 1 tilstand |
| SIM1SIM bHLH transcription factor 1 | Meget ofte (80–99 %) | I 1 tilstand |
| SLC12A5solute carrier family 12 member 5 | Meget ofte (80–99 %) | I 1 tilstand |
| SLC18A2solute carrier family 18 member A2 | Meget ofte (80–99 %) | I 1 tilstand |
| SLC25A15solute carrier family 25 member 15 | Meget ofte (80–99 %) | I 1 tilstand |
| SLC25A22solute carrier family 25 member 22 | Meget ofte (80–99 %) | I 1 tilstand |
| TBC1D24TBC1 domain family member 24 | Meget ofte (80–99 %) | I 1 tilstand |
| TP53RKTP53 regulating kinase | Meget ofte (80–99 %) | I 1 tilstand |
| TPRKBTP53RK binding protein | Meget ofte (80–99 %) | I 1 tilstand |
| TRAIPTRAF interacting protein | Meget ofte (80–99 %) | I 1 tilstand |
| TRANK1tetratricopeptide repeat and ankyrin repeat containing 1 | Meget ofte (80–99 %) | I 1 tilstand |
| TUBB2Btubulin beta 2B class IIb | Meget ofte (80–99 %) | I 1 tilstand |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Meget ofte (80–99 %) | I 1 tilstand |
| WDR73WD repeat domain 73 | Meget ofte (80–99 %) | I 1 tilstand |
| XPAXPA, DNA damage recognition and repair factor | Meget ofte (80–99 %) | I 1 tilstand |
| XPCXPC complex subunit, DNA damage recognition and repair factor | Meget ofte (80–99 %) | I 1 tilstand |
| YRDCyrdC N6-threonylcarbamoyltransferase domain containing | Meget ofte (80–99 %) | I 1 tilstand |
| ADA2adenosine deaminase 2 | Ofte (30–79 %) | I 1 tilstand |
| ADAMTSL4ADAMTS like 4 | Ofte (30–79 %) | I 1 tilstand |
| ANGangiogenin | Ofte (30–79 %) | I 1 tilstand |
| ANXA11annexin A11 | Ofte (30–79 %) | I 2 tilstande |
| AP5Z1adaptor related protein complex 5 subunit zeta 1 | Ofte (30–79 %) | I 1 tilstand |
| ARL6ARF like GTPase 6 | Ofte (30–79 %) | I 1 tilstand |
| ATN1atrophin 1 | Ofte (30–79 %) | I 1 tilstand |
| ATXN1ataxin 1 | Ofte (30–79 %) | I 2 tilstande |
| ATXN2ataxin 2 | Ofte (30–79 %) | I 1 tilstand |
| BBIP1BBSome interacting protein 1 | Ofte (30–79 %) | I 1 tilstand |
| BBS1Bardet-Biedl syndrome 1 | Ofte (30–79 %) | I 1 tilstand |
| BBS10Bardet-Biedl syndrome 10 | Ofte (30–79 %) | I 1 tilstand |
| BBS12Bardet-Biedl syndrome 12 | Ofte (30–79 %) | I 2 tilstande |
| BBS2Bardet-Biedl syndrome 2 | Ofte (30–79 %) | I 1 tilstand |
| BBS4Bardet-Biedl syndrome 4 | Ofte (30–79 %) | I 1 tilstand |
| BBS5Bardet-Biedl syndrome 5 | Ofte (30–79 %) | I 1 tilstand |
| BBS7Bardet-Biedl syndrome 7 | Ofte (30–79 %) | I 1 tilstand |
| BBS9Bardet-Biedl syndrome 9 | Ofte (30–79 %) | I 1 tilstand |
| CACHD1cache domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| CCNFcyclin F | Ofte (30–79 %) | I 1 tilstand |
| CEP19centrosomal protein 19 | Ofte (30–79 %) | I 1 tilstand |
| CEP290centrosomal protein 290 | Ofte (30–79 %) | I 1 tilstand |
| CFAP410cilia and flagella associated protein 410 | Ofte (30–79 %) | I 1 tilstand |
| CFAP418cilia and flagella associated protein 418 | Ofte (30–79 %) | I 1 tilstand |
| CHMP2Bcharged multivesicular body protein 2B | Ofte (30–79 %) | I 1 tilstand |
| CLCF1cardiotrophin like cytokine factor 1 | Ofte (30–79 %) | I 1 tilstand |
| CLMPCXADR like cell adhesion molecule | Ofte (30–79 %) | I 1 tilstand |
| CLN8CLN8 transmembrane ER and ERGIC protein | Ofte (30–79 %) | I 1 tilstand |
| CMPK2cytidine/uridine monophosphate kinase 2 | Ofte (30–79 %) | I 1 tilstand |
| COL4A1collagen type IV alpha 1 chain | Ofte (30–79 %) | I 1 tilstand |
| CPceruloplasmin | Ofte (30–79 %) | I 1 tilstand |
| CRLF1cytokine receptor like factor 1 | Ofte (30–79 %) | I 1 tilstand |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Ofte (30–79 %) | I 1 tilstand |
| DAOD-amino acid oxidase | Ofte (30–79 %) | I 1 tilstand |
| DCCDCC netrin 1 receptor | Ofte (30–79 %) | I 1 tilstand |
| DCTN1dynactin subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| ERBB4erb-b2 receptor tyrosine kinase 4 | Ofte (30–79 %) | I 1 tilstand |
| FA2Hfatty acid 2-hydroxylase | Ofte (30–79 %) | I 1 tilstand |
| FBN1fibrillin 1 | Ofte (30–79 %) | I 1 tilstand |
| FBXO7F-box protein 7 | Ofte (30–79 %) | I 1 tilstand |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| FIG4FIG4 phosphoinositide 5-phosphatase | Ofte (30–79 %) | I 1 tilstand |
| FLNAfilamin A | Ofte (30–79 %) | I 1 tilstand |
| FUSFUS RNA binding protein | Ofte (30–79 %) | I 2 tilstande |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Ofte (30–79 %) | I 1 tilstand |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Ofte (30–79 %) | I 2 tilstande |
| GBA2glucosylceramidase beta 2 | Ofte (30–79 %) | I 1 tilstand |
| GDF5growth differentiation factor 5 | Ofte (30–79 %) | I 1 tilstand |
| GJB2gap junction protein beta 2 | Ofte (30–79 %) | I 1 tilstand |
| GJC2gap junction protein gamma 2 | Ofte (30–79 %) | I 2 tilstande |
| GLAgalactosidase alpha | Ofte (30–79 %) | I 1 tilstand |
| GLE1GLE1 RNA export mediator | Ofte (30–79 %) | I 1 tilstand |
| GLT8D1glycosyltransferase 8 domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Ofte (30–79 %) | I 2 tilstande |
| GRID2glutamate ionotropic receptor delta type subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Ofte (30–79 %) | I 1 tilstand |
| HEXBhexosaminidase subunit beta | Ofte (30–79 %) | I 1 tilstand |
| HMBShydroxymethylbilane synthase | 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 |
| HTRA1HtrA serine peptidase 1 | Ofte (30–79 %) | I 2 tilstande |
| IFT172intraflagellar transport 172 | Ofte (30–79 %) | I 1 tilstand |
| IFT27intraflagellar transport 27 | Ofte (30–79 %) | I 1 tilstand |
| IFT74intraflagellar transport 74 | Ofte (30–79 %) | I 1 tilstand |
| KCNC3potassium voltage-gated channel subfamily C member 3 | Ofte (30–79 %) | I 1 tilstand |
| L1CAML1 cell adhesion molecule | Ofte (30–79 %) | I 1 tilstand |
| LRP12LDL receptor related protein 12 | Ofte (30–79 %) | I 1 tilstand |
| MAGEL2MAGE family member L2 | Ofte (30–79 %) | I 1 tilstand |
| MARS2methionyl-tRNA synthetase 2, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| MATR3matrin 3 | Ofte (30–79 %) | I 1 tilstand |
| MKKSMKKS centrosomal shuttling protein | Ofte (30–79 %) | I 1 tilstand |
| MKS1MKS transition zone complex subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Ofte (30–79 %) | I 1 tilstand |
| MT-RNR1mitochondrially encoded 12S rRNA | Ofte (30–79 %) | I 1 tilstand |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Ofte (30–79 %) | I 1 tilstand |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Ofte (30–79 %) | I 1 tilstand |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Ofte (30–79 %) | I 1 tilstand |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Ofte (30–79 %) | I 2 tilstande |
| MT-TPmitochondrially encoded tRNA-Pro (CCN) | Ofte (30–79 %) | I 1 tilstand |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Ofte (30–79 %) | I 1 tilstand |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Ofte (30–79 %) | I 1 tilstand |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Ofte (30–79 %) | I 1 tilstand |
| MTRFRmitochondrial translation release factor in rescue | Ofte (30–79 %) | I 3 tilstande |
| NEFHneurofilament heavy chain | Ofte (30–79 %) | I 1 tilstand |
| NEK1NIMA related kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| NOTCH2NLCnotch 2 N-terminal like C | Ofte (30–79 %) | I 1 tilstand |
| NPHP1nephrocystin 1 | Ofte (30–79 %) | I 1 tilstand |
| OPTNoptineurin | Ofte (30–79 %) | I 1 tilstand |
| PANK2pantothenate kinase 2 | Ofte (30–79 %) | I 2 tilstande |
| PCDH19protocadherin 19 | Ofte (30–79 %) | I 1 tilstand |
| PFN1profilin 1 | Ofte (30–79 %) | I 1 tilstand |
| PI4KAphosphatidylinositol 4-kinase alpha | Ofte (30–79 %) | I 1 tilstand |
| PMPCApeptidase, mitochondrial processing subunit alpha | Ofte (30–79 %) | I 1 tilstand |
| PNKPpolynucleotide kinase 3'-phosphatase | Ofte (30–79 %) | I 2 tilstande |
| POLGDNA polymerase gamma, catalytic subunit | Ofte (30–79 %) | I 5 tilstande |
| PORCNporcupine O-acyltransferase | Ofte (30–79 %) | I 1 tilstand |
| PRPHperipherin | Ofte (30–79 %) | I 1 tilstand |
| PTENphosphatase and tensin homolog | Ofte (30–79 %) | I 1 tilstand |
| RAB32RAB32, member RAS oncogene family | Ofte (30–79 %) | I 1 tilstand |
| RAI1retinoic acid induced 1 | Ofte (30–79 %) | I 1 tilstand |
| RIN2Ras and Rab interactor 2 | Ofte (30–79 %) | I 1 tilstand |
| ROBO3roundabout guidance receptor 3 | Ofte (30–79 %) | I 1 tilstand |
| SCAPERS-phase cyclin A associated protein in the ER | Ofte (30–79 %) | I 1 tilstand |
| SCLT1sodium channel and clathrin linker 1 | Ofte (30–79 %) | I 1 tilstand |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Ofte (30–79 %) | I 2 tilstande |
| SCN9Asodium voltage-gated channel alpha subunit 9 | Ofte (30–79 %) | I 2 tilstande |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Ofte (30–79 %) | I 2 tilstande |
| SLC7A7solute carrier family 7 member 7 | Ofte (30–79 %) | I 1 tilstand |
| SNCAsynuclein alpha | Ofte (30–79 %) | I 2 tilstande |
| SNORD118small nucleolar RNA, C/D box 118 | Ofte (30–79 %) | I 1 tilstand |
| SOD1superoxide dismutase 1 | Ofte (30–79 %) | I 1 tilstand |
| SPARTspartin | Ofte (30–79 %) | I 1 tilstand |
| SPRsepiapterin reductase | Ofte (30–79 %) | I 1 tilstand |
| STUB1STIP1 homology and U-box containing protein 1 | Ofte (30–79 %) | I 2 tilstande |
| TAF15TATA-box binding protein associated factor 15 | Ofte (30–79 %) | I 1 tilstand |
| TARDBPTAR DNA binding protein | Ofte (30–79 %) | I 2 tilstande |
| TBK1TANK binding kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| TMEM240transmembrane protein 240 | Ofte (30–79 %) | I 2 tilstande |
| TREM2triggering receptor expressed on myeloid cells 2 | Ofte (30–79 %) | I 1 tilstand |
| TREX1three prime repair exonuclease 1 | Ofte (30–79 %) | I 1 tilstand |
| TRIM32tripartite motif containing 32 | Ofte (30–79 %) | I 1 tilstand |
| TTC8tetratricopeptide repeat domain 8 | Ofte (30–79 %) | I 1 tilstand |
| UBQLN2ubiquilin 2 | Ofte (30–79 %) | I 2 tilstande |
| UNC13Aunc-13 homolog A | Ofte (30–79 %) | I 1 tilstand |
| VAPBVAMP associated protein B and C | Ofte (30–79 %) | I 1 tilstand |
| VCPvalosin containing protein | Ofte (30–79 %) | I 1 tilstand |
| WDPCPWD repeat containing planar cell polarity effector | Ofte (30–79 %) | I 1 tilstand |
| ZFYVE26zinc finger FYVE-type containing 26 | Ofte (30–79 %) | I 1 tilstand |
| AASSaminoadipate-semialdehyde synthase | Nogle gange (5–29 %) | I 2 tilstande |
| ABCA5ATP binding cassette subfamily A member 5 | Nogle gange (5–29 %) | I 1 tilstand |
| ABCD1ATP binding cassette subfamily D member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ADGRV1adhesion G protein-coupled receptor V1 | Nogle gange (5–29 %) | I 1 tilstand |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Nogle gange (5–29 %) | I 2 tilstande |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Nogle gange (5–29 %) | I 1 tilstand |
| AKT1AKT serine/threonine kinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Nogle gange (5–29 %) | I 1 tilstand |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Nogle gange (5–29 %) | I 1 tilstand |
| ARL6IP6ARF like GTPase 6 interacting protein 6 | Nogle gange (5–29 %) | I 1 tilstand |
| ATMATM serine/threonine kinase | Nogle gange (5–29 %) | I 1 tilstand |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Nogle gange (5–29 %) | I 1 tilstand |
| BAP1BRCA1 associated deubiquitinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| BDNFbrain derived neurotrophic factor | Nogle gange (5–29 %) | I 1 tilstand |
| CABP4calcium binding protein 4 | Nogle gange (5–29 %) | I 1 tilstand |
| CCM2CCM2 scaffold protein | Nogle gange (5–29 %) | I 1 tilstand |
| CHRM3cholinergic receptor muscarinic 3 | Nogle gange (5–29 %) | I 1 tilstand |
| CHRNA2cholinergic receptor nicotinic alpha 2 subunit | Nogle gange (5–29 %) | I 1 tilstand |
| CHRNA4cholinergic receptor nicotinic alpha 4 subunit | Nogle gange (5–29 %) | I 1 tilstand |
| CHRNB2cholinergic receptor nicotinic beta 2 subunit | Nogle gange (5–29 %) | I 1 tilstand |
| CHRNGcholinergic receptor nicotinic gamma subunit | Nogle gange (5–29 %) | I 1 tilstand |
| CNBPCCHC-type zinc finger nucleic acid binding protein | Nogle gange (5–29 %) | I 1 tilstand |
| COQ2coenzyme Q2, polyprenyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| COQ4coenzyme Q4 | Nogle gange (5–29 %) | I 1 tilstand |
| CPA6carboxypeptidase A6 | Nogle gange (5–29 %) | I 1 tilstand |
| CRHcorticotropin releasing hormone | Nogle gange (5–29 %) | I 1 tilstand |
| CSF1Rcolony stimulating factor 1 receptor | Nogle gange (5–29 %) | I 1 tilstand |
| CTNScystinosin, lysosomal cystine transporter | Nogle gange (5–29 %) | I 1 tilstand |
| CYP2U1cytochrome P450 family 2 subfamily U member 1 | Nogle gange (5–29 %) | I 2 tilstande |
| CYP7B1cytochrome P450 family 7 subfamily B member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Nogle gange (5–29 %) | I 1 tilstand |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Nogle gange (5–29 %) | I 2 tilstande |
| DGUOKdeoxyguanosine kinase | Nogle gange (5–29 %) | I 1 tilstand |
| DNAJC3DnaJ heat shock protein family (Hsp40) member C3 | Nogle gange (5–29 %) | I 1 tilstand |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Nogle gange (5–29 %) | I 2 tilstande |
| DSG4desmoglein 4 | Nogle gange (5–29 %) | I 1 tilstand |
| EDN3endothelin 3 | Nogle gange (5–29 %) | I 1 tilstand |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Nogle gange (5–29 %) | I 1 tilstand |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Nogle gange (5–29 %) | I 1 tilstand |
| ERLIN1ER lipid raft associated 1 | Nogle gange (5–29 %) | I 1 tilstand |
| FGF13fibroblast growth factor 13 | Nogle gange (5–29 %) | I 1 tilstand |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Nogle gange (5–29 %) | I 1 tilstand |
| GCDHglutaryl-CoA dehydrogenase | Nogle gange (5–29 %) | I 1 tilstand |
| GDF3growth differentiation factor 3 | Nogle gange (5–29 %) | I 1 tilstand |
| GDF6growth differentiation factor 6 | Nogle gange (5–29 %) | I 1 tilstand |
| GDNFglial cell derived neurotrophic factor | Nogle gange (5–29 %) | I 1 tilstand |
| GNA11G protein subunit alpha 11 | Nogle gange (5–29 %) | I 1 tilstand |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Nogle gange (5–29 %) | I 1 tilstand |
| GPC4glypican 4 | Nogle gange (5–29 %) | I 1 tilstand |
| GTPBP3GTP binding protein 3, mitochondrial | Nogle gange (5–29 %) | I 1 tilstand |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Nogle gange (5–29 %) | I 1 tilstand |
| HTRA2HtrA serine peptidase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Nogle gange (5–29 %) | I 1 tilstand |
| KCND3potassium voltage-gated channel subfamily D member 3 | Nogle gange (5–29 %) | I 1 tilstand |
| KMT2Blysine methyltransferase 2B | Nogle gange (5–29 %) | I 1 tilstand |
| KRIT1KRIT1 ankyrin repeat containing | Nogle gange (5–29 %) | I 1 tilstand |
| KRT81keratin 81 | Nogle gange (5–29 %) | I 1 tilstand |
| KRT83keratin 83 | Nogle gange (5–29 %) | I 1 tilstand |
| KRT86keratin 86 | Nogle gange (5–29 %) | I 1 tilstand |
| LAMA2laminin subunit alpha 2 | Nogle gange (5–29 %) | I 1 tilstand |
| LARS2leucyl-tRNA synthetase 2, mitochondrial | Nogle gange (5–29 %) | I 1 tilstand |
| LBX1ladybird homeobox 1 | Nogle gange (5–29 %) | I 1 tilstand |
| LMNB1lamin B1 | Nogle gange (5–29 %) | I 1 tilstand |
| LRRK2leucine rich repeat kinase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| LYSTlysosomal trafficking regulator | Nogle gange (5–29 %) | I 1 tilstand |
| MEOX1mesenchyme homeobox 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Nogle gange (5–29 %) | I 1 tilstand |
| MTHFRmethylenetetrahydrofolate reductase | Nogle gange (5–29 %) | I 1 tilstand |
| MYH3myosin heavy chain 3 | Nogle gange (5–29 %) | I 1 tilstand |
| MYO1Hmyosin IH | Nogle gange (5–29 %) | I 1 tilstand |
| NAGSN-acetylglutamate synthase | Nogle gange (5–29 %) | I 2 tilstande |
| NEFLneurofilament light chain | Nogle gange (5–29 %) | I 1 tilstand |
| NF2NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | Nogle gange (5–29 %) | I 1 tilstand |
| NKX6-2NK6 homeobox 2 | Nogle gange (5–29 %) | I 1 tilstand |
| NPRL2NPR2 like, GATOR1 complex subunit | Nogle gange (5–29 %) | I 1 tilstand |
| NPRL3NPR3 like, GATOR1 complex subunit | Nogle gange (5–29 %) | I 1 tilstand |
| PARK7Parkinsonism associated deglycase | Nogle gange (5–29 %) | I 1 tilstand |
| PDCD10programmed cell death 10 | Nogle gange (5–29 %) | I 1 tilstand |
| PDGFBplatelet derived growth factor subunit B | Nogle gange (5–29 %) | I 2 tilstande |
| PHOX2Bpaired like homeobox 2B | Nogle gange (5–29 %) | I 1 tilstand |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Nogle gange (5–29 %) | I 2 tilstande |
| PINK1PTEN induced kinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PODXLpodocalyxin like | Nogle gange (5–29 %) | I 1 tilstand |
| PPP2R2Bprotein phosphatase 2 regulatory subunit Bbeta | Nogle gange (5–29 %) | I 1 tilstand |
| PRKCGprotein kinase C gamma | Nogle gange (5–29 %) | I 1 tilstand |
| PRKNparkin RBR E3 ubiquitin protein ligase | Nogle gange (5–29 %) | I 1 tilstand |
| PRKRAprotein activator of interferon induced protein kinase EIF2AK2 | Nogle gange (5–29 %) | I 1 tilstand |
| PRRT2proline rich transmembrane protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| RAB3ARAB3A, member RAS oncogene family | Nogle gange (5–29 %) | I 1 tilstand |
| RBM12RNA binding motif protein 12 | Nogle gange (5–29 %) | I 1 tilstand |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Nogle gange (5–29 %) | I 1 tilstand |
| RNASEH1ribonuclease H1 | Nogle gange (5–29 %) | I 1 tilstand |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Nogle gange (5–29 %) | I 2 tilstande |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Nogle gange (5–29 %) | I 1 tilstand |
| SIGMAR1sigma receptor chaperone 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC32A1solute carrier family 32 member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC37A4solute carrier family 37 member 4 | Nogle gange (5–29 %) | I 1 tilstand |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Nogle gange (5–29 %) | I 1 tilstand |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Nogle gange (5–29 %) | I 1 tilstand |
| SMOsmoothened, frizzled class receptor | Nogle gange (5–29 %) | I 1 tilstand |
| SORDsorbitol dehydrogenase | Nogle gange (5–29 %) | I 1 tilstand |
| SPASTspastin | Nogle gange (5–29 %) | I 1 tilstand |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Nogle gange (5–29 %) | I 1 tilstand |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Nogle gange (5–29 %) | I 2 tilstande |
| SPTBN1spectrin beta, non-erythrocytic 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SPTLC2serine palmitoyltransferase long chain base subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| STARD7StAR related lipid transfer domain containing 7 | Nogle gange (5–29 %) | I 1 tilstand |
| STX1Bsyntaxin 1B | Nogle gange (5–29 %) | I 1 tilstand |
| SUFUSUFU negative regulator of hedgehog signaling | Nogle gange (5–29 %) | I 1 tilstand |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SYNJ1synaptojanin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TBCKTBC1 domain containing kinase | Nogle gange (5–29 %) | I 1 tilstand |
| TERTtelomerase reverse transcriptase | Nogle gange (5–29 %) | I 1 tilstand |
| THAP11THAP domain containing 11 | Nogle gange (5–29 %) | I 1 tilstand |
| TP53tumor protein p53 | Nogle gange (5–29 %) | I 1 tilstand |
| TRAF7TNF receptor associated factor 7 | Nogle gange (5–29 %) | I 1 tilstand |
| TRMT2BtRNA methyltransferase 2B | Nogle gange (5–29 %) | I 1 tilstand |
| TSC1TSC complex subunit 1 | Nogle gange (5–29 %) | I 2 tilstande |
| TSC2TSC complex subunit 2 | Nogle gange (5–29 %) | I 2 tilstande |
| TWNKtwinkle mtDNA helicase | Nogle gange (5–29 %) | I 3 tilstande |
| UCHL1ubiquitin C-terminal hydrolase L1 | Nogle gange (5–29 %) | I 1 tilstand |
| VPS13Cvacuolar protein sorting 13 homolog C | Nogle gange (5–29 %) | I 1 tilstand |
| ALMS1ALMS1 centrosome and basal body associated protein | Sjældent (1–4%) | I 1 tilstand |
| ARMC5armadillo repeat containing 5 | Sjældent (1–4%) | I 1 tilstand |
| DNM1Ldynamin 1L | Sjældent (1–4%) | I 1 tilstand |
| DZIP1LDAZ interacting zinc finger protein 1 like | Sjældent (1–4%) | I 1 tilstand |
| GNASGNAS complex locus | Sjældent (1–4%) | I 4 tilstande |
| IRAK1interleukin 1 receptor associated kinase 1 | Sjældent (1–4%) | I 1 tilstand |
| KDM1Alysine demethylase 1A | Sjældent (1–4%) | I 1 tilstand |
| KIF5Akinesin family member 5A | Sjældent (1–4%) | I 1 tilstand |
| OPA1OPA1 mitochondrial dynamin like GTPase | Sjældent (1–4%) | I 1 tilstand |
| PABPN1poly(A) binding protein nuclear 1 | Sjældent (1–4%) | I 1 tilstand |
| PKHD1PKHD1 ciliary IPT domain containing fibrocystin/polyductin | Sjældent (1–4%) | I 1 tilstand |
| POLG2DNA polymerase gamma 2, accessory subunit | Sjældent (1–4%) | I 1 tilstand |
| PPIBpeptidylprolyl isomerase B | Sjældent (1–4%) | I 1 tilstand |
| RRM1ribonucleotide reductase catalytic subunit M1 | Sjældent (1–4%) | I 1 tilstand |
| SAT1spermidine/spermine N1-acetyltransferase 1 | Sjældent (1–4%) | I 1 tilstand |
| SLC25A4solute carrier family 25 member 4 | Sjældent (1–4%) | I 1 tilstand |
| SPP1secreted phosphoprotein 1 | Sjældent (1–4%) | I 1 tilstand |
| SPRED1sprouty related EVH1 domain containing 1 | Sjældent (1–4%) | I 1 tilstand |
| STAT4signal transducer and activator of transcription 4 | Sjældent (1–4%) | I 1 tilstand |
| TK2thymidine kinase 2 | Sjældent (1–4%) | I 1 tilstand |
| TOP3ADNA topoisomerase III alpha | Sjældent (1–4%) | I 1 tilstand |
| UBA1ubiquitin like modifier activating enzyme 1 | Sjældent (1–4%) | I 1 tilstand |
| ADD3adducin 3 | Ikke registreret | I 1 tilstand |
| APOEapolipoprotein E | Ikke registreret | I 1 tilstand |
| APTXaprataxin | Ikke registreret | I 1 tilstand |
| AUHAU RNA binding methylglutaconyl-CoA hydratase | Ikke registreret | I 1 tilstand |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Ikke registreret | I 1 tilstand |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Ikke registreret | I 1 tilstand |
| CFHcomplement factor H | Ikke registreret | I 1 tilstand |
| CFHR1complement factor H related 1 | Ikke registreret | I 1 tilstand |
| CFHR3complement factor H related 3 | Ikke registreret | I 1 tilstand |
| CTDP1CTD phosphatase 1 | Ikke registreret | I 1 tilstand |
| GLRX5glutaredoxin 5 | Ikke registreret | I 1 tilstand |
| IBA57iron-sulfur cluster assembly factor IBA57 | Ikke registreret | I 1 tilstand |
| MAGmyelin associated glycoprotein | Ikke registreret | I 1 tilstand |
| MTFMTmitochondrial methionyl-tRNA formyltransferase | Ikke registreret | I 1 tilstand |
| MTORmechanistic target of rapamycin kinase | Ikke registreret | I 1 tilstand |
| NAGAalpha-N-acetylgalactosaminidase | Ikke registreret | I 1 tilstand |
| NFIAnuclear factor I A | Ikke registreret | I 1 tilstand |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Ikke registreret | I 1 tilstand |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Ikke registreret | I 1 tilstand |
| PRDM8PR/SET domain 8 | Ikke registreret | I 1 tilstand |
| PSEN2presenilin 2 | Ikke registreret | I 1 tilstand |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Ikke registreret | I 1 tilstand |
| SKIC3SKI3 subunit of superkiller complex | Ikke registreret | I 1 tilstand |
| SLC2A1solute carrier family 2 member 1 | Ikke registreret | I 1 tilstand |
| SMC1Astructural maintenance of chromosomes 1A | Ikke registreret | I 1 tilstand |
| SMC3structural maintenance of chromosomes 3 | Ikke registreret | I 1 tilstand |
| SOSTsclerostin | Ikke registreret | I 1 tilstand |
| SPTBN2spectrin beta, non-erythrocytic 2 | Ikke registreret | I 1 tilstand |
| TSFMTs translation elongation factor, mitochondrial | Ikke registreret | I 1 tilstand |
| TTC19tetratricopeptide repeat domain 19 | Ikke registreret | I 1 tilstand |
| VPS37AVPS37A subunit of ESCRT-I | Ikke registreret | I 1 tilstand |
| XPR1xenotropic and polytropic retrovirus receptor 1 | Ikke registreret | I 1 tilstand |
| XRCC4X-ray repair cross complementing 4 | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
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Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.19-9814e911.
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