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Increased reflexes
Klinisk navn: Hyperreflexia
Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.
Resumé
- Også kaldet
- Increased deep tendon reflexes
- 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/hyperreflexia.json"
page <- fromJSON(url)
page$trait$nameIncreased reflexesHP:0001347
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Log indSpørgSekvenér dit genom↗
Læs de gener, der er knyttet til Increased reflexes, og resten af dit genom, med én test.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger
Bestil min Genome Test192 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 201 of these genesABCB7ABHD16AAFG3L2AIMP2ALDH18A1ALS2About this report →
- Hereditary Spastic ParaplegiaReads 50 of these genesABHD16AALDH18A1AP4B1AP4E1AP4M1AP4S1About this report →
- Rare Hereditary Peripheral NeuropathiesReads 88 of these genesBSCL2FBXL4HEXBMARS1MFFMTRFRAbout this report →
- Amyotrophic Lateral Sclerosis (ALS)Reads 26 of these genesALS2SIGMAR1SOD1ANGANXA11CCNFAbout this report →
Show 188 more reports
- Other Inherited LeukodystrophiesReads 42 of these genesAIMP2GJC2HSPD1HYCC1NKX6-2PEX3About this report →
- Fanconi AnemiaReads 18 of these genesERCC4BRCA1BRCA2BRIP1FANCAFANCBAbout this report →
- Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)Reads 24 of these genesAFG3L2ATXN7NOP56SPTBN2TTBK2GRM1About this report →
- Epilepsy (Full Panel)Reads 51 of these genesABATBRAT1DNM1FZR1GRIA3PIGAAbout this report →
- Autosomal Recessive Primary MicrocephalyReads 15 of these genesMFSD2AANKLE2ASPMCDK5RAP2CEP135CEP152About this report →
- Parkinson DiseaseReads 14 of these genesATP13A2FBXO7PRKNCHCHD2PLA2G6SNCAAbout this report →
- Leigh SyndromeReads 30 of these genesFBXL4MFFMTRFRPDHA1AIFM1HIBCHAbout this report →
- DNA Repair DiseaseReads 23 of these genesERCC1ERCC4ERCC6ERCC8BRCA1BRCA2About this report →
- Zellweger Spectrum & Peroxisome Biogenesis DisordersReads 13 of these genesPEX3PEX1PEX10PEX11BPEX12PEX13About this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 25 of these genesCWF19L1GDAP2GRID2SPTBN2ATP8A2CA8About this report →
- Pontocerebellar Hypoplasia (TSEN54 and MINPP1)Reads 13 of these genesAMPD2CLP1PCLOTOE1CHMP1APRDM13About this report →
- Frontotemporal DementiaReads 10 of these genesCCNFCHCHD10CHMP2BHNRNPA1SQSTM1TBK1About this report →
- Charcot-Marie-Tooth DiseaseReads 24 of these genesBSCL2MARS1RTN2SIGMAR1AIFM1COQ7About this report →
- Spinal Muscular AtrophyReads 14 of these genesBSCL2SIGMAR1CHCHD10DCTN1EMILIN1WARS1About this report →
- Basal Ganglia CalcificationReads 7 of these genesJAM2MYORGNAA60PDGFBPDGFRBSLC20A2About this report →
- Intellectual DisabilityReads 40 of these genesELP2GRIA3PGAP1ACSL4ATP6AP2CASKAbout this report →
- Hereditary Optic NeuropathyReads 9 of these genesAFG3L2DNM1LATP1A3MT-ND1MT-ND4MT-ND5About this report →
- Primary Mitochondrial DiseaseReads 29 of these genesAFG3L2FBXL4MTRFRUQCRQAARS2DNAJC30About this report →
- Pelizaeus-Merzbacher Disease & Hypomyelinating LeukodystrophiesReads 12 of these genesAIMP2GJC2HSPD1HYCC1RNF220PLP1About this report →
- Lysosomal Storage DiseaseReads 16 of these genesHEXBPSAPGM2AMCOLN1AP5Z1CYP27A1About this report →
- Hereditary Episodic AtaxiasReads 4 of these genesCACNA1AKCNA1SCN2ASLC1A3About this report →
- Neurodegeneration with Brain Iron Accumulation (NBIA)Reads 6 of these genesATP13A2FTH1PANK2PLA2G6C19orf12FTLAbout this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 11 of these genesGCH1SLC18A2TOR1AWARS2PNKPPRKRAAbout this report →
- Congenital Disorders of GlycosylationReads 18 of these genesCOG4PIGAALG11ATP6AP2PIGNPMM2About this report →
- BH4 Deficiency & Monoamine Neurotransmitter DisordersReads 5 of these genesGCH1SLC18A2DDCSPRPTSAbout this report →
- Adult-Onset Leukodystrophies (CSF1R, LMNB1, Nasu-Hakola)Reads 3 of these genesLMNB1TREM2CSF1RAbout this report →
- Disorders of Glycine & Serine MetabolismReads 4 of these genesGCSHSLC1A4PSAT1GLDCAbout this report →
- Cerebral Arteriopathy with Subcortical Infarcts and LeukoencephalopathyReads 2 of these genesNOTCH3HTRA1About this report →
- Encephalopathy due to Mitochondrial and Peroxisomal Fission DefectReads 2 of these genesDNM1LMFFAbout this report →
- Hereditary Breast and Ovarian Cancer (BRCA1/2)Reads 2 of these genesBRCA1BRCA2About this report →
- Metachromatic LeukodystrophyReads 2 of these genesPSAPARSAAbout this report →
- Sandhoff Disease and GM2 Activator DeficiencyReads 2 of these genesHEXBGM2AAbout this report →
- Meckel SyndromeReads 4 of these genesTCTN2KIF14RPGRIP1LTMEM67About this report →
- Lissencephaly Spectrum DisordersReads 6 of these genesKATNB1NDE1CTNNA2ARXPSAT1RAB3GAP1About this report →
- Familial Hemiplegic MigraineReads 2 of these genesCACNA1AATP1A2About this report →
- Alpha-Mannosidosis and Other GlycoproteinosesReads 3 of these genesMAN2B1NAGANEU1About this report →
- GPI Anchor Biosynthesis DefectsReads 5 of these genesPIGAGPAA1PIGNPIGPPIGQAbout this report →
- Congenital Muscular DystrophiesReads 6 of these genesFKRPGMPPBPOMGNT1POMKPOMT1POMT2About this report →
- Hereditary Sensory and Autonomic Neuropathies (incl. Familial Dysautonomia)Reads 5 of these genesAIFM1SPTLC1DNMT1ATL1KIF1AAbout this report →
- Neuronal Ceroid LipofuscinosisReads 4 of these genesATP13A2TPP1CTSFGRNAbout this report →
- Purine & Pyrimidine Metabolism DisordersReads 3 of these genesDPYDHPRT1PRPS1About this report →
- Complex Cortical Dysplasia and Frontoparietal PolymicrogyriaReads 4 of these genesCAMSAP1CTNNA2TUBB2BADGRG1About this report →
- Cutis LaxaReads 4 of these genesALDH18A1ELNEMILIN1ATP6V1AAbout this report →
- Breast and Ovarian Cancer Genes Beyond BRCA1/2Reads 3 of these genesBRIP1PALB2RAD51CAbout 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 →
- 3-Methylglutaconic Aciduria Type 9 (TIMM50)Reads 1 of these genesTIMM50About this report →
- ADCY5-Related DyskinesiaReads 1 of these genesADCY5About this report →
- Alacrima, Achalasia and Intellectual Disability Syndrome (GMPPA)Reads 1 of these genesGMPPAAbout this report →
- Alexander DiseaseReads 1 of these genesGFAPAbout this report →
- Amyotrophic Lateral Sclerosis Susceptibility 24 (NEK1)Reads 1 of these genesNEK1About this report →
- Angelman SyndromeReads 1 of these genesUBE3AAbout this report →
- Asparagine Synthetase DeficiencyReads 1 of these genesASNSAbout this report →
- ATP1A2-Related Fetal Akinesia with PolymicrogyriaReads 1 of these genesATP1A2About this report →
- BCKDK DeficiencyReads 1 of these genesBCKDKAbout this report →
- Björnstad SyndromeReads 1 of these genesBCS1LAbout this report →
- Brain Abnormalities, Neurodegeneration and Dysosteosclerosis (BANDDOS)Reads 1 of these genesCSF1RAbout this report →
- BRAT1-Related Neurodevelopmental Disorder with Cerebellar AtrophyReads 1 of these genesBRAT1About this report →
- Canavan DiseaseReads 1 of these genesASPAAbout this report →
- Cerebrotendinous XanthomatosisReads 1 of these genesCYP27A1About this report →
- Christianson SyndromeReads 1 of these genesSLC9A6About this report →
- CYP7B1-Related Spastic Paraplegia and Liver DiseaseReads 1 of these genesCYP7B1About this report →
- DCC-Related Mirror Movements and Agenesis of the Corpus CallosumReads 1 of these genesDCCAbout this report →
- Deafness-Dystonia-Optic Neuronopathy SyndromeReads 1 of these genesTIMM8AAbout this report →
- DNMT1-Related Ataxia, Deafness and Narcolepsy (ADCA-DN)Reads 1 of these genesDNMT1About this report →
- Dyschromatosis Symmetrica HereditariaReads 1 of these genesADARAbout this report →
- Familial Mediterranean FeverReads 1 of these genesMEFVAbout this report →
- FANCM-Related Genomic Instability DisorderReads 1 of these genesFANCMAbout this report →
- Gaucher DiseaseReads 1 of these genesGBA1About this report →
- Genetic Prion Disease (incl. Fatal Familial Insomnia)Reads 1 of these genesPRNPAbout this report →
- GM1 Gangliosidosis and Morquio B SyndromeReads 1 of these genesGLB1About this report →
- GTP Cyclohydrolase 1 DeficiencyReads 1 of these genesGCH1About this report →
- H SyndromeReads 1 of these genesSLC29A3About this report →
- Hartnup DiseaseReads 1 of these genesSLC6A19About this report →
- Hereditary Folate MalabsorptionReads 1 of these genesSLC46A1About this report →
- HIBCH DeficiencyReads 1 of these genesHIBCHAbout this report →
- Huntington DiseaseReads 1 of these genesHTTAbout this report →
- Hyperekplexia 3 (SLC6A5)Reads 1 of these genesSLC6A5About this report →
- Jaberi-Elahi SyndromeReads 1 of these genesGTPBP2About this report →
- KIDINS220-Related Ventriculomegaly and ArthrogryposisReads 1 of these genesKIDINS220About this report →
- Krabbe DiseaseReads 1 of these genesGALCAbout this report →
- L1 SyndromeReads 1 of these genesL1CAMAbout this report →
- MCPH1-Related Primary MicrocephalyReads 1 of these genesMCPH1About this report →
- Mitchell SyndromeReads 1 of these genesACOX1About this report →
- Mowat-Wilson SyndromeReads 1 of these genesZEB2About this report →
- NDE1-Related MicrolissencephalyReads 1 of these genesNDE1About this report →
- OPA1-Related Optic AtrophyReads 1 of these genesOPA1About this report →
- OPTN-Related Normal-Tension GlaucomaReads 1 of these genesOPTNAbout this report →
- P5CS Deficiency (ALDH18A1-Related)Reads 1 of these genesALDH18A1About this report →
- PALB2 related diseasesReads 1 of these genesPALB2About this report →
- Phenylketonuria (PKU)Reads 1 of these genesPAHAbout this report →
- PNPLA6-Related Ataxia, Retinal Dystrophy and HypogonadismReads 1 of these genesPNPLA6About this report →
- POLR3A-Related DisorderReads 1 of these genesPOLR3AAbout this report →
- POLR3B-Related DisorderReads 1 of these genesPOLR3BAbout this report →
- Primary Microcephaly 26 (LMNB1)Reads 1 of these genesLMNB1About this report →
- Rett Syndrome and MECP2-Related DisordersReads 1 of these genesMECP2About this report →
- Saul-Wilson SyndromeReads 1 of these genesCOG4About this report →
- TNR-Related Neurodevelopmental Disorder with SpasticityReads 1 of these genesTNRAbout this report →
- TRAPPC6B-Related Neurodevelopmental DisorderReads 1 of these genesTRAPPC6BAbout this report →
- TRIM8-Related Neurodevelopmental and Kidney DisorderReads 1 of these genesTRIM8About this report →
- UNC13A-Related Neurodevelopmental DisordersReads 1 of these genesUNC13AAbout this report →
- X-Linked Adrenoleukodystrophy (ABCD1)Reads 1 of these genesABCD1About this report →
- Distal MyopathiesReads 4 of these genesHNRNPA1LRP12MATR3VCPAbout this report →
- Alzheimer diseaseReads 2 of these genesTREM2PSEN1About this report →
- LipodystrophyReads 3 of these genesBSCL2MFN2CAV1About this report →
- Joubert Syndrome And Related DisordersReads 5 of these genesTCTN2CC2D2AINPP5ERPGRIP1LTMEM67About this report →
- Peroxisomal Enzyme Disorders & Refsum DiseaseReads 2 of these genesAMACRACOX1About this report →
- Congenital Myasthenic SyndromeReads 4 of these genesVAMP1GMPPBALG2DPAGT1About this report →
- Autoimmune Lymphoproliferative Syndrome (ALPS)Reads 2 of these genesKRASFASAbout this report →
- Classic Organic AciduriasReads 2 of these genesMCCC1MCCC2About this report →
- Diabetes MellitusReads 4 of these genesBSCL2EIF2S3MT-TL1ABCC8About this report →
- Aicardi-Goutieres SyndromeReads 2 of these genesADARRNASEH2CAbout this report →
- Familial Glucocorticoid DeficiencyReads 2 of these genesNDC1AAASAbout this report →
- Hereditary Sideroblastic AnaemiasReads 2 of these genesABCB7GLRX5About this report →
- Malignant Endocrine NeoplasmReads 2 of these genesSDHBSDHAAbout this report →
- Hereditary FibromatosesReads 1 of these genesPDGFRBAbout this report →
- Hereditary Manganese Transporter DisordersReads 1 of these genesSLC39A14About this report →
- Riboflavin Transporter DeficiencyReads 1 of these genesSLC52A3About this report →
- Limb-Girdle Muscular DystrophyReads 4 of these genesFKRPGMPPBPOMGNT1TRAPPC11About this report →
- Complex Neurodevelopmental Disorder With Motor FeaturesReads 2 of these genesELP2CACNA1AAbout this report →
- Imprinting Disorders: Prader-Willi, Silver-Russell and Beckwith-WiedemannReads 2 of these genesSNRPNNSD1About this report →
- Pyruvate Dehydrogenase & Pyruvate Carboxylase DeficiencyReads 2 of these genesPDHA1DLATAbout this report →
- Autoimmune DiseaseReads 3 of these genesKRASFASUNC93B1About this report →
- Noonan SyndromeReads 3 of these genesHRASKRASNRASAbout this report →
- Hereditary Pheochromocytoma and ParagangliomaReads 2 of these genesSDHBSDHAAbout this report →
- Mendelian Susceptibility to Mycobacterial Disease (MSMD)Reads 2 of these genesIFNGR1IL23RAbout this report →
- Other Inborn Errors of ImmunityReads 9 of these genesKRASNCF1ADARC4ACD40LGFASAbout this report →
- HyperinsulinismReads 2 of these genesPMM2ABCC8About this report →
- Urea Cycle DisorderReads 2 of these genesMCCC1SLC25A15About this report →
- Urinary and Renal System TumourReads 2 of these genesSDHBSDHAAbout this report →
- Cerebral Creatine Deficiency SyndromesReads 1 of these genesGAMTAbout this report →
- Leukocyte Adhesion DeficiencyReads 1 of these genesSLC35C1About this report →
- Monogenic Early-Onset OsteoporosisReads 1 of these genesCOPB2About this report →
- Mucolipidoses (ML II, ML III and ML IV)Reads 1 of these genesMCOLN1About this report →
- Neuroacanthocytosis and Huntington Disease PhenocopiesReads 1 of these genesJPH3About this report →
- Stargardt DiseaseReads 1 of these genesELOVL4About this report →
- Thyroid Hormone Resistance, Transport & Metabolism DefectsReads 1 of these genesSLC16A2About this report →
- Hypertrophic CardiomyopathyReads 4 of these genesHRASKRASNRASNSD1About this report →
- Hearing Loss and DeafnessReads 5 of these genesSLC12A2AIFM1KARS1POU3F4PRPS1About this report →
- Familial Paget Disease of BoneReads 1 of these genesSQSTM1About this report →
- Hereditary Gastrointestinal Stromal TumourReads 1 of these genesSDHBAbout this report →
- Hyper-IgM SyndromesReads 1 of these genesCD40LGAbout this report →
- Inherited Predisposition to Myeloid Blood CancersReads 1 of these genesSAMD9LAbout this report →
- Molybdenum Cofactor & Isolated Sulfite Oxidase DeficiencyReads 1 of these genesGPHNAbout this report →
- Overgrowth Syndromes (Sotos, Weaver, Tatton-Brown-Rahman, Malan)Reads 1 of these genesNSD1About this report →
- Thiamine Transporter and Metabolism DisordersReads 1 of these genesSLC19A3About this report →
- Neonatal Diabetes MellitusReads 2 of these genesBSCL2ABCC8About this report →
- Chronic Granulomatous DiseaseReads 1 of these genesNCF1About this report →
- Heritable Pulmonary Arterial Hypertension (HPAH)Reads 1 of these genesCAV1About this report →
- Inflammatory Bowel Diseases (IBD)Reads 1 of these genesIL10About this report →
- Surfactant Metabolism DysfunctionReads 1 of these genesMARS1About this report →
- Systemic Lupus ErythematosusReads 1 of these genesUNC93B1About this report →
- Vanishing White Matter DiseaseReads 1 of these genesAARS2About this report →
- Microphthalmia, Anophthalmia & ColobomaReads 2 of these genesERCC1RAB3GAP1About this report →
- GlaucomaReads 1 of these genesOPTNAbout this report →
- Hepatic Porphyria DisordersReads 1 of these genesPPOXAbout this report →
- Pyruvate Kinase Deficiency and Other Red Cell Enzyme DisordersReads 1 of these genesGCLCAbout this report →
- Rare Monogenic Autoinflammatory DiseasesReads 2 of these genesADARRNASEH2CAbout this report →
- Anterior Segment Dysgenesis, Axenfeld-Rieger Syndrome & AniridiaReads 1 of these genesITPR1About this report →
- Kidney CancerReads 1 of these genesSDHBAbout this report →
- PorphyriaReads 1 of these genesPPOXAbout this report →
- Hereditary Macular DystrophiesReads 1 of these genesPRDM13About this report →
- Male InfertilityReads 2 of these genesFKBP6FANCMAbout this report →
- Congenital Anomalies of the Kidney and Urinary TractReads 1 of these genesDSTYKAbout this report →
- Polycystic Kidney DiseaseReads 1 of these genesALG9About this report →
- Hereditary AmyloidosisReads 1 of these genesTTRAbout this report →
- Maturity-Onset Diabetes Of The YoungReads 1 of these genesABCC8About this report →
- Severe Congenital NeutropeniaReads 1 of these genesCLPBAbout this report →
- Inherited Congenital Heart DefectsReads 1 of these genesELNAbout this report →
- Female InfertilityReads 2 of these genesTUBA4AFANCMAbout this report →
- OsteopetrosisReads 1 of these genesOSTM1About this report →
- Primary Lymphoedema & Lymphatic MalformationsReads 1 of these genesGJC2About this report →
- Inherited Complement and Properdin DeficienciesReads 1 of these genesC4AAbout this report →
- 46,XY Differences of Sex Development and Gonadal DysgenesisReads 1 of these genesATRXAbout this report →
- Hereditary Corneal DystrophiesReads 1 of these genesMCOLN1About this report →
- Retinitis PigmentosaReads 2 of these genesCC2D2APOMGNT1About this report →
- Congenital MyopathiesReads 1 of these genesACTA1About this report →
- Homocystinuria & Cobalamin DisordersReads 1 of these genesMAT1AAbout this report →
- Nephronophthisis and Senior-Løken SyndromeReads 1 of these genesTMEM67About this report →
- Hereditary Congenital & Juvenile CataractReads 1 of these genesFTLAbout this report →
- Syndromic Complex Neurodevelopmental DisorderReads 1 of these genesAP1S2About this report →
- Non-Acquired Combined Pituitary Hormone DeficiencyReads 1 of these genesZIC2About this report →
- VitreoretinopathyReads 1 of these genesNDPAbout this report →
- Nephrotic SyndromeReads 1 of these genesPODXLAbout this report →
- Osteogenesis ImperfectaReads 1 of these genesPOLR3AAbout this report →
- Hereditary Palmoplantar Keratodermas and Pachyonychia CongenitaReads 1 of these genesGJA1About this report →
- Dilated CardiomyopathyReads 1 of these genesSYNE1About this report →
- Hypogonadotropic HypogonadismReads 1 of these genesSNRPNAbout this report →
Læs de gener, der er knyttet til Increased reflexes, og resten af dit genom, med én test.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger
Bestil min Genome Test635 gener knyttet til Increased reflexes
Ændringer i disse gener forårsager sjældne tilstande, hvor Increased reflexes 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 |
|---|---|---|
| ABAT4-aminobutyrate aminotransferase | Altid | I 2 tilstande |
| ABCB1ATP binding cassette subfamily B member 1 | Altid | I 1 tilstand |
| ABCB7ATP binding cassette subfamily B member 7 | Altid | I 2 tilstande |
| ABHD16Aabhydrolase domain containing 16A, phospholipase | Altid | I 1 tilstand |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Altid | I 1 tilstand |
| AIMP2aminoacyl tRNA synthetase complex interacting multifunctional protein 2 | Altid | I 1 tilstand |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Altid | I 3 tilstande |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Altid | I 5 tilstande |
| AMACRalpha-methylacyl-CoA racemase | Altid | I 1 tilstand |
| AMPD2adenosine monophosphate deaminase 2 | Altid | I 3 tilstande |
| AP4B1adaptor related protein complex 4 subunit beta 1 | Altid | I 2 tilstande |
| AP4E1adaptor related protein complex 4 subunit epsilon 1 | Altid | I 2 tilstande |
| AP4M1adaptor related protein complex 4 subunit mu 1 | Altid | I 2 tilstande |
| AP4S1adaptor related protein complex 4 subunit sigma 1 | Altid | I 2 tilstande |
| ATP13A2ATPase cation transporting 13A2 | Altid | I 3 tilstande |
| ATXN7ataxin 7 | Altid | I 2 tilstande |
| ATXN7L3ataxin 7 like 3 | Altid | I 1 tilstand |
| BCAS3BCAS3 microtubule associated cell migration factor | Altid | I 1 tilstand |
| BRAT1BRCA1 associated ATM activator 1 | Altid | I 2 tilstande |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Altid | I 5 tilstande |
| CAMSAP1calmodulin regulated spectrin associated protein 1 | Altid | I 1 tilstand |
| CASP2caspase 2 | Altid | I 1 tilstand |
| CCDC88Acoiled-coil and HOOK domain protein 88A | Altid | I 1 tilstand |
| CCT5chaperonin containing TCP1 subunit 5 | Altid | I 2 tilstande |
| CHKAcholine kinase alpha | Altid | I 1 tilstand |
| CHP1calcineurin like EF-hand protein 1 | Altid | I 1 tilstand |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Altid | I 2 tilstande |
| COG4component of oligomeric golgi complex 4 | Altid | I 2 tilstande |
| CPT1Ccarnitine palmitoyltransferase 1C | Altid | I 2 tilstande |
| CRATcarnitine O-acetyltransferase | Altid | I 1 tilstand |
| CRNKL1crooked neck pre-mRNA splicing factor 1 | Altid | I 1 tilstand |
| CWF19L1CWF19 like cell cycle control factor 1 | Altid | I 1 tilstand |
| CYP7B1cytochrome P450 family 7 subfamily B member 1 | Altid | I 1 tilstand |
| DDHD1DDHD domain containing 1 | Altid | I 2 tilstande |
| DDHD2DDHD domain containing 2 | Altid | I 1 tilstand |
| DNM1dynamin 1 | Altid | I 1 tilstand |
| DNM1Ldynamin 1L | Altid | I 1 tilstand |
| DSTYKdual serine/threonine and tyrosine protein kinase | Altid | I 2 tilstande |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Altid | I 1 tilstand |
| ELP2elongator acetyltransferase complex subunit 2 | Altid | I 1 tilstand |
Vis 595 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Altid | I 1 tilstand |
| ERLIN1ER lipid raft associated 1 | Altid | I 2 tilstande |
| ESAMendothelial cell adhesion molecule | Altid | I 1 tilstand |
| EXOC8exocyst complex component 8 | Altid | I 1 tilstand |
| EXOSC5exosome component 5 | Altid | I 1 tilstand |
| EXTL3exostosin like glycosyltransferase 3 | Altid | I 2 tilstande |
| FBXL4F-box and leucine rich repeat protein 4 | Altid | I 1 tilstand |
| FBXO7F-box protein 7 | Altid | I 2 tilstande |
| FEM1Bfem-1 homolog B | Altid | I 1 tilstand |
| FZR1fizzy and cell division cycle 20 related 1 | Altid | I 1 tilstand |
| GBA2glucosylceramidase beta 2 | Altid | I 2 tilstande |
| GCH1GTP cyclohydrolase 1 | Altid | I 1 tilstand |
| GCSHglycine cleavage system protein H | Altid | I 1 tilstand |
| GDAP2ganglioside induced differentiation associated protein 2 | Altid | I 1 tilstand |
| GGT1gamma-glutamyltransferase 1 | Altid | I 2 tilstande |
| GJC2gap junction protein gamma 2 | Altid | I 1 tilstand |
| GLRBglycine receptor beta | Altid | I 2 tilstande |
| GPHNgephyrin | Altid | I 2 tilstande |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Altid | I 1 tilstand |
| GRID2glutamate ionotropic receptor delta type subunit 2 | Altid | I 1 tilstand |
| GTPBP1GTP binding protein 1 | Altid | I 1 tilstand |
| HEXBhexosaminidase subunit beta | Altid | I 2 tilstande |
| HSPD1heat shock protein family D (Hsp60) member 1 | Altid | I 3 tilstande |
| HYCC1hyccin PI4KA lipid kinase complex subunit 1 | Altid | I 1 tilstand |
| IREB2iron responsive element binding protein 2 | Altid | I 1 tilstand |
| ISCA1iron-sulfur cluster assembly 1 | Altid | I 2 tilstande |
| KATNB1katanin regulatory subunit B1 | Altid | I 1 tilstand |
| MAGmyelin associated glycoprotein | Altid | I 1 tilstand |
| MARS1methionyl-tRNA synthetase 1 | Altid | I 1 tilstand |
| MARS2methionyl-tRNA synthetase 2, mitochondrial | Altid | I 2 tilstande |
| MCCC1methylcrotonyl-CoA carboxylase subunit 1 | Altid | I 1 tilstand |
| MED17mediator complex subunit 17 | Altid | I 1 tilstand |
| MFFmitochondrial fission factor | Altid | I 2 tilstande |
| MFSD2AMFSD2 lysolipid transporter A, lysophospholipid | Altid | I 2 tilstande |
| MICOS13mitochondrial contact site and cristae organizing system subunit 13 | Altid | I 1 tilstand |
| MOCS3molybdenum cofactor synthesis 3 | Altid | I 1 tilstand |
| MTRFRmitochondrial translation release factor in rescue | Altid | I 2 tilstande |
| NDC1NDC1 transmembrane nucleoporin | Altid | I 1 tilstand |
| NDE1nudE neurodevelopment protein 1 | Altid | I 2 tilstande |
| NEK1NIMA related kinase 1 | Altid | I 2 tilstande |
| NKX6-2NK6 homeobox 2 | Altid | I 2 tilstande |
| NOP56NOP56 ribonucleoprotein | Altid | I 2 tilstande |
| NT5C25'-nucleotidase, cytosolic II | Altid | I 2 tilstande |
| PCLOpiccolo presynaptic cytomatrix protein | Altid | I 1 tilstand |
| PCYT2phosphate cytidylyltransferase 2, ethanolamine | Altid | I 1 tilstand |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Altid | I 1 tilstand |
| PEX3peroxisomal biogenesis factor 3 | Altid | I 2 tilstande |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Altid | I 2 tilstande |
| PI4KAphosphatidylinositol 4-kinase alpha | Altid | I 2 tilstande |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Altid | I 2 tilstande |
| POLR1ARNA polymerase I subunit A | Altid | I 1 tilstand |
| PRKNparkin RBR E3 ubiquitin protein ligase | Altid | I 2 tilstande |
| PSAPprosaposin | Altid | I 3 tilstande |
| RNF220ring finger protein 220 | Altid | I 1 tilstand |
| RTN2reticulon 2 | Altid | I 3 tilstande |
| SAMD9Lsterile alpha motif domain containing 9 like | Altid | I 2 tilstande |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Altid | I 1 tilstand |
| SEC31ASEC31 homolog A, COPII component | Altid | I 1 tilstand |
| SELENOIselenoprotein I | Altid | I 1 tilstand |
| SIGMAR1sigma receptor chaperone 1 | Altid | I 1 tilstand |
| SLC12A2solute carrier family 12 member 2 | Altid | I 1 tilstand |
| SLC18A2solute carrier family 18 member A2 | Altid | I 1 tilstand |
| SLC31A1solute carrier family 31 member 1 | Altid | I 1 tilstand |
| SOD1superoxide dismutase 1 | Altid | I 3 tilstande |
| SPARTspartin | Altid | I 2 tilstande |
| SPG21SPG21 abhydrolase domain containing, maspardin | Altid | I 2 tilstande |
| SPTBN2spectrin beta, non-erythrocytic 2 | Altid | I 3 tilstande |
| TCTN2tectonic family member 2 | Altid | I 1 tilstand |
| TFGtrafficking from ER to golgi regulator | Altid | I 1 tilstand |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Altid | I 1 tilstand |
| TMEM63Ctransmembrane protein 63C | Altid | I 1 tilstand |
| TMX2thioredoxin related transmembrane protein 2 | Altid | I 1 tilstand |
| TNRtenascin R | Altid | I 1 tilstand |
| TOR1Atorsin family 1 member A | Altid | I 1 tilstand |
| TRAPPC6Btrafficking protein particle complex subunit 6B | Altid | I 1 tilstand |
| TTBK2tau tubulin kinase 2 | Altid | I 1 tilstand |
| UCHL1ubiquitin C-terminal hydrolase L1 | Altid | I 2 tilstande |
| UQCRQubiquinol-cytochrome c reductase complex III subunit VII | Altid | I 1 tilstand |
| VPS37AVPS37A subunit of ESCRT-I | Altid | I 1 tilstand |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Altid | I 2 tilstande |
| ZIC2Zic family zinc finger 2 | Altid | I 1 tilstand |
| AARS2alanyl-tRNA synthetase 2, mitochondrial | Meget ofte (80–99 %) | I 1 tilstand |
| ACOX1acyl-CoA oxidase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| ASNSasparagine synthetase (glutamine-hydrolyzing) | Meget ofte (80–99 %) | I 1 tilstand |
| ATAD1ATPase family AAA domain containing 1 | Meget ofte (80–99 %) | I 2 tilstande |
| ATP8A2ATPase phospholipid transporting 8A2 | Meget ofte (80–99 %) | I 1 tilstand |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Meget ofte (80–99 %) | I 1 tilstand |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Meget ofte (80–99 %) | I 1 tilstand |
| CA8carbonic anhydrase 8 (inactive) | Meget ofte (80–99 %) | I 1 tilstand |
| CLIP2CAP-Gly domain containing linker protein 2 | Meget ofte (80–99 %) | I 1 tilstand |
| CLTRNcollectrin, amino acid transport regulator | Meget ofte (80–99 %) | I 1 tilstand |
| CTNNA2catenin alpha 2 | Meget ofte (80–99 %) | I 1 tilstand |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Meget ofte (80–99 %) | I 1 tilstand |
| EIF4Heukaryotic translation initiation factor 4H | Meget ofte (80–99 %) | I 1 tilstand |
| ELNelastin | Meget ofte (80–99 %) | I 2 tilstande |
| ERLIN2ER lipid raft associated 2 | Meget ofte (80–99 %) | I 3 tilstande |
| FA2Hfatty acid 2-hydroxylase | Meget ofte (80–99 %) | I 2 tilstande |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Meget ofte (80–99 %) | I 1 tilstand |
| GLRA1glycine receptor alpha 1 | Meget ofte (80–99 %) | I 1 tilstand |
| GM2Aganglioside GM2 activator | Meget ofte (80–99 %) | I 2 tilstande |
| GPT2glutamic--pyruvic transaminase 2 | Meget ofte (80–99 %) | I 2 tilstande |
| GRM1glutamate metabotropic receptor 1 | Meget ofte (80–99 %) | I 2 tilstande |
| GTF2Igeneral transcription factor IIi | Meget ofte (80–99 %) | I 1 tilstand |
| GTF2IRD1GTF2I repeat domain containing 1 | Meget ofte (80–99 %) | I 1 tilstand |
| GTF2IRD2GTF2I repeat domain containing 2 | Meget ofte (80–99 %) | I 1 tilstand |
| HRASHRas proto-oncogene, GTPase | Meget ofte (80–99 %) | I 2 tilstande |
| HTThuntingtin | Meget ofte (80–99 %) | I 4 tilstande |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Meget ofte (80–99 %) | I 3 tilstande |
| KCNJ6potassium inwardly rectifying channel subfamily J member 6 | Meget ofte (80–99 %) | I 2 tilstande |
| KIF1Ckinesin family member 1C | Meget ofte (80–99 %) | I 2 tilstande |
| KRASKRas proto-oncogene, GTPase | Meget ofte (80–99 %) | I 1 tilstand |
| L1CAML1 cell adhesion molecule | Meget ofte (80–99 %) | I 1 tilstand |
| LGI1leucine rich glioma inactivated 1 | Meget ofte (80–99 %) | I 2 tilstande |
| LIMK1LIM domain kinase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| MCOLN1mucolipin TRP cation channel 1 | Meget ofte (80–99 %) | I 2 tilstande |
| METTL27methyltransferase like 27 | Meget ofte (80–99 %) | I 1 tilstand |
| MTPAPmitochondrial poly(A) polymerase | Meget ofte (80–99 %) | I 1 tilstand |
| NCF1neutrophil cytosolic factor 1 | Meget ofte (80–99 %) | I 1 tilstand |
| NOTCH3notch receptor 3 | Meget ofte (80–99 %) | I 1 tilstand |
| NRASNRAS proto-oncogene, GTPase | Meget ofte (80–99 %) | I 1 tilstand |
| OCLNoccludin | Meget ofte (80–99 %) | I 2 tilstande |
| PDYNprodynorphin | Meget ofte (80–99 %) | I 2 tilstande |
| PEX1peroxisomal biogenesis factor 1 | Meget ofte (80–99 %) | I 1 tilstand |
| PEX10peroxisomal biogenesis factor 10 | Meget ofte (80–99 %) | I 2 tilstande |
| 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 |
| PEX5peroxisomal biogenesis factor 5 | Meget ofte (80–99 %) | I 1 tilstand |
| PEX6peroxisomal biogenesis factor 6 | Meget ofte (80–99 %) | I 1 tilstand |
| PLP1proteolipid protein 1 | Meget ofte (80–99 %) | I 3 tilstande |
| PRUNE1prune exopolyphosphatase 1 | Meget ofte (80–99 %) | I 2 tilstande |
| PTRHD1peptidyl-tRNA hydrolase domain containing 1 | Meget ofte (80–99 %) | I 1 tilstand |
| RFC2replication factor C subunit 2 | Meget ofte (80–99 %) | I 1 tilstand |
| SLC1A4solute carrier family 1 member 4 | Meget ofte (80–99 %) | I 2 tilstande |
| SLC25A15solute carrier family 25 member 15 | Meget ofte (80–99 %) | I 2 tilstande |
| SLC2A3solute carrier family 2 member 3 | Meget ofte (80–99 %) | I 1 tilstand |
| SLC33A1solute carrier family 33 member 1 | Meget ofte (80–99 %) | I 1 tilstand |
| SLC6A19solute carrier family 6 member 19 | Meget ofte (80–99 %) | I 2 tilstande |
| SLC6A5solute carrier family 6 member 5 | Meget ofte (80–99 %) | I 1 tilstand |
| SNAPC4small nuclear RNA activating complex polypeptide 4 | Meget ofte (80–99 %) | I 1 tilstand |
| STX1Asyntaxin 1A | Meget ofte (80–99 %) | I 1 tilstand |
| TBL2transducin beta like 2 | Meget ofte (80–99 %) | I 1 tilstand |
| TGM6transglutaminase 6 | Meget ofte (80–99 %) | I 2 tilstande |
| TMEM270transmembrane protein 270 | Meget ofte (80–99 %) | I 1 tilstand |
| TOE1target of EGR1, exonuclease | Meget ofte (80–99 %) | I 2 tilstande |
| TUBB2Btubulin beta 2B class IIb | Meget ofte (80–99 %) | I 1 tilstand |
| UBAP1ubiquitin associated protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| VAMP1vesicle associated membrane protein 1 | Meget ofte (80–99 %) | I 2 tilstande |
| VLDLRvery low density lipoprotein receptor | Meget ofte (80–99 %) | I 2 tilstande |
| VPS37DVPS37D subunit of ESCRT-I | Meget ofte (80–99 %) | I 1 tilstand |
| WASHC5WASH complex subunit 5 | Meget ofte (80–99 %) | I 2 tilstande |
| WDR81WD repeat domain 81 | Meget ofte (80–99 %) | I 1 tilstand |
| ZNHIT3zinc finger HIT-type containing 3 | Meget ofte (80–99 %) | I 2 tilstande |
| ABCD1ATP binding cassette subfamily D member 1 | Ofte (30–79 %) | I 1 tilstand |
| ACSL4acyl-CoA synthetase long chain family member 4 | Ofte (30–79 %) | I 1 tilstand |
| ADARadenosine deaminase RNA specific | Ofte (30–79 %) | I 1 tilstand |
| ADCY5adenylate cyclase 5 | Ofte (30–79 %) | I 2 tilstande |
| ADGRG1adhesion G protein-coupled receptor G1 | Ofte (30–79 %) | I 2 tilstande |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Ofte (30–79 %) | I 1 tilstand |
| ALG11ALG11 alpha-1,2-mannosyltransferase | Ofte (30–79 %) | I 1 tilstand |
| ANGangiogenin | Ofte (30–79 %) | I 1 tilstand |
| ANKLE2ankyrin repeat and LEM domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| ANO10anoctamin 10 | Ofte (30–79 %) | I 1 tilstand |
| ANXA11annexin A11 | Ofte (30–79 %) | I 1 tilstand |
| AP5Z1adaptor related protein complex 5 subunit zeta 1 | Ofte (30–79 %) | I 1 tilstand |
| ARXaristaless related homeobox | Ofte (30–79 %) | I 3 tilstande |
| ASPAaspartoacylase | Ofte (30–79 %) | I 2 tilstande |
| ASPMassembly factor for spindle microtubules | Ofte (30–79 %) | I 1 tilstand |
| ATP6AP2ATPase H+ transporting accessory protein 2 | Ofte (30–79 %) | I 1 tilstand |
| ATXN2ataxin 2 | Ofte (30–79 %) | I 1 tilstand |
| ATXN3ataxin 3 | Ofte (30–79 %) | I 3 tilstande |
| ATXN8ataxin 8 | Ofte (30–79 %) | I 1 tilstand |
| ATXN8OSATXN8 opposite strand lncRNA | Ofte (30–79 %) | I 1 tilstand |
| B4GALNT1beta-1,4-N-acetyl-galactosaminyltransferase 1 | Ofte (30–79 %) | I 2 tilstande |
| BCKDKbranched chain keto acid dehydrogenase kinase | Ofte (30–79 %) | I 1 tilstand |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Ofte (30–79 %) | I 3 tilstande |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Ofte (30–79 %) | I 2 tilstande |
| CASKcalcium/calmodulin dependent serine protein kinase | Ofte (30–79 %) | I 2 tilstande |
| CC2D2Acoiled-coil and C2 domain containing 2A | Ofte (30–79 %) | I 1 tilstand |
| CCDC47coiled-coil domain containing 47 | Ofte (30–79 %) | I 1 tilstand |
| CCDC88Ccoiled-coil and HOOK domain protein 88C | Ofte (30–79 %) | I 2 tilstande |
| CCNFcyclin F | Ofte (30–79 %) | I 1 tilstand |
| CDK5RAP2CDK5 regulatory subunit associated protein 2 | Ofte (30–79 %) | I 1 tilstand |
| CDK6cyclin dependent kinase 6 | Ofte (30–79 %) | I 1 tilstand |
| CDKL5cyclin dependent kinase like 5 | Ofte (30–79 %) | I 1 tilstand |
| CENPEcentromere protein E | Ofte (30–79 %) | I 1 tilstand |
| CEP135centrosomal protein 135 | Ofte (30–79 %) | I 1 tilstand |
| CEP152centrosomal protein 152 | Ofte (30–79 %) | I 1 tilstand |
| CFAP410cilia and flagella associated protein 410 | Ofte (30–79 %) | I 1 tilstand |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Ofte (30–79 %) | I 1 tilstand |
| CHCHD2coiled-coil-helix-coiled-coil-helix domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| CHMP1Acharged multivesicular body protein 1A | Ofte (30–79 %) | I 1 tilstand |
| CHMP2Bcharged multivesicular body protein 2B | Ofte (30–79 %) | I 3 tilstande |
| CITcitron rho-interacting serine/threonine kinase | Ofte (30–79 %) | I 2 tilstande |
| CLPBClpB family mitochondrial disaggregase | Ofte (30–79 %) | I 2 tilstande |
| COPB2coat protein complex I subunit beta 2 | Ofte (30–79 %) | I 1 tilstand |
| COQ7coenzyme Q7, hydroxylase | Ofte (30–79 %) | I 1 tilstand |
| CPAPcentrosome assembly and centriole elongation protein | Ofte (30–79 %) | I 1 tilstand |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | 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 |
| DBR1debranching RNA lariats 1 | Ofte (30–79 %) | I 1 tilstand |
| DCTN1dynactin subunit 1 | Ofte (30–79 %) | I 2 tilstande |
| DDCdopa decarboxylase | Ofte (30–79 %) | I 1 tilstand |
| DMXL2Dmx like 2 | Ofte (30–79 %) | I 1 tilstand |
| DTYMKdeoxythymidylate kinase | Ofte (30–79 %) | I 1 tilstand |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Ofte (30–79 %) | I 2 tilstande |
| EMILIN1elastin microfibril interfacer 1 | Ofte (30–79 %) | I 1 tilstand |
| ERBB4erb-b2 receptor tyrosine kinase 4 | Ofte (30–79 %) | I 1 tilstand |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Ofte (30–79 %) | I 2 tilstande |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Ofte (30–79 %) | I 3 tilstande |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Ofte (30–79 %) | I 2 tilstande |
| FAM177A1family with sequence similarity 177 member A1 | Ofte (30–79 %) | I 1 tilstand |
| FIG4FIG4 phosphoinositide 5-phosphatase | Ofte (30–79 %) | I 1 tilstand |
| FRMPD4FERM and PDZ domain containing 4 | Ofte (30–79 %) | I 1 tilstand |
| FTH1ferritin heavy chain 1 | Ofte (30–79 %) | I 1 tilstand |
| FUSFUS RNA binding protein | Ofte (30–79 %) | I 1 tilstand |
| GFAPglial fibrillary acidic protein | Ofte (30–79 %) | I 2 tilstande |
| GJA1gap junction protein alpha 1 | Ofte (30–79 %) | I 1 tilstand |
| GJB1gap junction protein beta 1 | Ofte (30–79 %) | I 1 tilstand |
| GLE1GLE1 RNA export mediator | Ofte (30–79 %) | I 1 tilstand |
| GLRX5glutaredoxin 5 | Ofte (30–79 %) | I 2 tilstande |
| GLT8D1glycosyltransferase 8 domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| GNAO1G protein subunit alpha o1 | Ofte (30–79 %) | I 1 tilstand |
| GNAQG protein subunit alpha q | Ofte (30–79 %) | I 1 tilstand |
| GPAA1glycosylphosphatidylinositol anchor attachment 1 | Ofte (30–79 %) | I 2 tilstande |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Ofte (30–79 %) | I 2 tilstande |
| GRM7glutamate metabotropic receptor 7 | Ofte (30–79 %) | I 2 tilstande |
| GTPBP2GTP binding protein 2 | Ofte (30–79 %) | I 1 tilstand |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Ofte (30–79 %) | I 1 tilstand |
| HIBCH3-hydroxyisobutyryl-CoA hydrolase | Ofte (30–79 %) | I 1 tilstand |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Ofte (30–79 %) | I 1 tilstand |
| INPP5Einositol polyphosphate-5-phosphatase E | Ofte (30–79 %) | I 1 tilstand |
| KARS1lysyl-tRNA synthetase 1 | Ofte (30–79 %) | I 1 tilstand |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Ofte (30–79 %) | I 2 tilstande |
| KCNC3potassium voltage-gated channel subfamily C member 3 | Ofte (30–79 %) | I 2 tilstande |
| KCND3potassium voltage-gated channel subfamily D member 3 | Ofte (30–79 %) | I 2 tilstande |
| KCNK4potassium two pore domain channel subfamily K member 4 | Ofte (30–79 %) | I 1 tilstand |
| KDM5Clysine demethylase 5C | Ofte (30–79 %) | I 2 tilstande |
| KIDINS220kinase D interacting substrate 220 | Ofte (30–79 %) | I 1 tilstand |
| KIF14kinesin family member 14 | Ofte (30–79 %) | I 1 tilstand |
| KNL1kinetochore scaffold 1 | Ofte (30–79 %) | I 1 tilstand |
| KPNA3karyopherin subunit alpha 3 | Ofte (30–79 %) | I 1 tilstand |
| LMNB1lamin B1 | Ofte (30–79 %) | I 1 tilstand |
| LRP12LDL receptor related protein 12 | Ofte (30–79 %) | I 1 tilstand |
| MATR3matrin 3 | Ofte (30–79 %) | I 3 tilstande |
| MCM7minichromosome maintenance complex component 7 | Ofte (30–79 %) | I 1 tilstand |
| MCPH1microcephalin 1 | Ofte (30–79 %) | I 1 tilstand |
| METTL5methyltransferase 5, N6-adenosine | Ofte (30–79 %) | I 1 tilstand |
| MLXIPLMLX interacting protein like | Ofte (30–79 %) | I 1 tilstand |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Ofte (30–79 %) | I 3 tilstande |
| NARS1asparaginyl-tRNA synthetase 1 | Ofte (30–79 %) | I 2 tilstande |
| NCAPD3non-SMC condensin II complex subunit D3 | Ofte (30–79 %) | I 1 tilstand |
| NEFHneurofilament heavy chain | Ofte (30–79 %) | I 2 tilstande |
| NEUROD2neuronal differentiation 2 | Ofte (30–79 %) | I 1 tilstand |
| NOTCH2NLCnotch 2 N-terminal like C | Ofte (30–79 %) | I 1 tilstand |
| NSRP1nuclear speckle splicing regulatory protein 1 | Ofte (30–79 %) | I 1 tilstand |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Ofte (30–79 %) | I 1 tilstand |
| NUP214nucleoporin 214 | Ofte (30–79 %) | I 1 tilstand |
| NUP37nucleoporin 37 | Ofte (30–79 %) | I 1 tilstand |
| NUP54nucleoporin 54 | Ofte (30–79 %) | I 1 tilstand |
| NUP62nucleoporin 62 | Ofte (30–79 %) | I 1 tilstand |
| OPTNoptineurin | Ofte (30–79 %) | I 1 tilstand |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Ofte (30–79 %) | I 1 tilstand |
| PANK2pantothenate kinase 2 | Ofte (30–79 %) | I 3 tilstande |
| PDCD6IPprogrammed cell death 6 interacting protein | Ofte (30–79 %) | I 1 tilstand |
| PFN1profilin 1 | Ofte (30–79 %) | I 1 tilstand |
| PGBD5piggyBac transposable element derived 5 | Ofte (30–79 %) | I 1 tilstand |
| PHC1polyhomeotic homolog 1 | Ofte (30–79 %) | I 1 tilstand |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Ofte (30–79 %) | I 2 tilstande |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Ofte (30–79 %) | I 2 tilstande |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Ofte (30–79 %) | I 1 tilstand |
| PLA2G6phospholipase A2 group VI | Ofte (30–79 %) | I 4 tilstande |
| PMM2phosphomannomutase 2 | 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 1 tilstand |
| PNPLA6patatin like domain 6, lysophospholipase | Ofte (30–79 %) | I 2 tilstande |
| POLR3ARNA polymerase III subunit A | Ofte (30–79 %) | I 2 tilstande |
| POLR3BRNA polymerase III subunit B | Ofte (30–79 %) | I 3 tilstande |
| POU3F4POU class 3 homeobox 4 | Ofte (30–79 %) | I 1 tilstand |
| PPP2R2Bprotein phosphatase 2 regulatory subunit Bbeta | Ofte (30–79 %) | I 2 tilstande |
| PRDM13PR/SET domain 13 | Ofte (30–79 %) | I 1 tilstand |
| PRDM8PR/SET domain 8 | Ofte (30–79 %) | I 2 tilstande |
| PRKRAprotein activator of interferon induced protein kinase EIF2AK2 | Ofte (30–79 %) | I 2 tilstande |
| PRPHperipherin | Ofte (30–79 %) | I 2 tilstande |
| PSAT1phosphoserine aminotransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| PYCR2pyrroline-5-carboxylate reductase 2 | Ofte (30–79 %) | I 3 tilstande |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Ofte (30–79 %) | I 2 tilstande |
| RARS1arginyl-tRNA synthetase 1 | Ofte (30–79 %) | I 2 tilstande |
| RBSNrabenosyn, RAB effector | Ofte (30–79 %) | I 1 tilstand |
| RHOBTB2Rho related BTB domain containing 2 | Ofte (30–79 %) | I 2 tilstande |
| RNF2ring finger protein 2 | Ofte (30–79 %) | I 1 tilstand |
| RPGRIP1LRPGRIP1 like | Ofte (30–79 %) | I 1 tilstand |
| RPS6KC1ribosomal protein S6 kinase C1 | Ofte (30–79 %) | I 1 tilstand |
| RUSC2RUN and SH3 domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| SARS1seryl-tRNA synthetase 1 | Ofte (30–79 %) | I 1 tilstand |
| SASS6SAS-6 centriolar assembly protein | Ofte (30–79 %) | I 1 tilstand |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Ofte (30–79 %) | I 2 tilstande |
| SCYL1SCY1 like pseudokinase 1 | Ofte (30–79 %) | I 2 tilstande |
| SEMA6Bsemaphorin 6B | Ofte (30–79 %) | I 1 tilstand |
| SIK1salt inducible kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| SLC16A2solute carrier family 16 member 2 | Ofte (30–79 %) | I 2 tilstande |
| SLC19A3solute carrier family 19 member 3 | Ofte (30–79 %) | I 1 tilstand |
| SLC25A22solute carrier family 25 member 22 | Ofte (30–79 %) | I 1 tilstand |
| SLC2A1solute carrier family 2 member 1 | Ofte (30–79 %) | I 5 tilstande |
| SLC32A1solute carrier family 32 member 1 | Ofte (30–79 %) | I 1 tilstand |
| SLC38A3solute carrier family 38 member 3 | Ofte (30–79 %) | I 1 tilstand |
| SLC39A14solute carrier family 39 member 14 | Ofte (30–79 %) | I 2 tilstande |
| SLC4A10solute carrier family 4 member 10 | Ofte (30–79 %) | I 1 tilstand |
| SLC9A6solute carrier family 9 member A6 | Ofte (30–79 %) | I 1 tilstand |
| SNCAsynuclein alpha | Ofte (30–79 %) | I 2 tilstande |
| SPRsepiapterin reductase | Ofte (30–79 %) | I 1 tilstand |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| SQSTM1sequestosome 1 | Ofte (30–79 %) | I 4 tilstande |
| SRPX2sushi repeat containing protein X-linked 2 | Ofte (30–79 %) | I 1 tilstand |
| STILSTIL centriolar assembly protein | Ofte (30–79 %) | I 1 tilstand |
| STUB1STIP1 homology and U-box containing protein 1 | Ofte (30–79 %) | I 3 tilstande |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Ofte (30–79 %) | I 1 tilstand |
| TAF13TATA-box binding protein associated factor 13 | Ofte (30–79 %) | I 1 tilstand |
| TAF15TATA-box binding protein associated factor 15 | Ofte (30–79 %) | I 1 tilstand |
| TAF2TATA-box binding protein associated factor 2 | Ofte (30–79 %) | I 2 tilstande |
| TARDBPTAR DNA binding protein | Ofte (30–79 %) | I 1 tilstand |
| TBK1TANK binding kinase 1 | Ofte (30–79 %) | I 3 tilstande |
| TMEM67transmembrane protein 67 | Ofte (30–79 %) | I 2 tilstande |
| TPP1tripeptidyl peptidase 1 | Ofte (30–79 %) | I 2 tilstande |
| TRAPPC10trafficking protein particle complex subunit 10 | Ofte (30–79 %) | I 1 tilstand |
| TRAPPC14trafficking protein particle complex subunit 14 | Ofte (30–79 %) | I 1 tilstand |
| TREM2triggering receptor expressed on myeloid cells 2 | Ofte (30–79 %) | I 2 tilstande |
| TRIM8tripartite motif containing 8 | Ofte (30–79 %) | I 1 tilstand |
| TRIOtrio Rho guanine nucleotide exchange factor | Ofte (30–79 %) | I 1 tilstand |
| TRMT5tRNA methyltransferase 5 | Ofte (30–79 %) | I 1 tilstand |
| TTRtransthyretin | Ofte (30–79 %) | I 1 tilstand |
| TUBA4Atubulin alpha 4a | Ofte (30–79 %) | I 1 tilstand |
| UBQLN2ubiquilin 2 | Ofte (30–79 %) | I 1 tilstand |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Ofte (30–79 %) | I 1 tilstand |
| UGDHUDP-glucose 6-dehydrogenase | Ofte (30–79 %) | I 1 tilstand |
| UGP2UDP-glucose pyrophosphorylase 2 | Ofte (30–79 %) | I 1 tilstand |
| 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 2 tilstande |
| VPS13Cvacuolar protein sorting 13 homolog C | Ofte (30–79 %) | I 2 tilstande |
| WARS1tryptophanyl-tRNA synthetase 1 | Ofte (30–79 %) | I 1 tilstand |
| WDR62WD repeat domain 62 | Ofte (30–79 %) | I 2 tilstande |
| WWOXWW domain containing oxidoreductase | Ofte (30–79 %) | I 1 tilstand |
| ZFRzinc finger RNA binding protein | Ofte (30–79 %) | I 1 tilstand |
| AAASaladin WD repeat nucleoporin | Nogle gange (5–29 %) | I 2 tilstande |
| ACTA1actin alpha 1, skeletal muscle | Nogle gange (5–29 %) | I 1 tilstand |
| AGTPBP1ATP/GTP binding carboxypeptidase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Nogle gange (5–29 %) | I 1 tilstand |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Nogle gange (5–29 %) | I 2 tilstande |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Nogle gange (5–29 %) | I 1 tilstand |
| ATP5MKATP synthase membrane subunit k | Nogle gange (5–29 %) | I 1 tilstand |
| ATXN10ataxin 10 | Nogle gange (5–29 %) | I 2 tilstande |
| AUTS2activator of transcription and developmental regulator AUTS2 | Nogle gange (5–29 %) | I 1 tilstand |
| BEAN1brain expressed associated with NEDD4 1 | Nogle gange (5–29 %) | I 1 tilstand |
| BICD2BICD cargo adaptor 2 | Nogle gange (5–29 %) | I 2 tilstande |
| BRCA1BRCA1 DNA repair associated | Nogle gange (5–29 %) | I 1 tilstand |
| BRCA2BRCA2 DNA repair associated | Nogle gange (5–29 %) | I 1 tilstand |
| BRIP1BRCA1 interacting DNA helicase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| C4Acomplement C4A (Chido/Rodgers blood group) | Nogle gange (5–29 %) | I 1 tilstand |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Nogle gange (5–29 %) | I 2 tilstande |
| CCR1C-C motif chemokine receptor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CD40LGCD40 ligand | Nogle gange (5–29 %) | I 1 tilstand |
| COQ8Acoenzyme Q8A | Nogle gange (5–29 %) | I 2 tilstande |
| CSF1Rcolony stimulating factor 1 receptor | Nogle gange (5–29 %) | I 2 tilstande |
| CTSFcathepsin F | Nogle gange (5–29 %) | I 1 tilstand |
| DCCDCC netrin 1 receptor | Nogle gange (5–29 %) | I 1 tilstand |
| DHX9DExH-box helicase 9 | Nogle gange (5–29 %) | I 1 tilstand |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Nogle gange (5–29 %) | I 1 tilstand |
| DNMT1DNA methyltransferase 1 | Nogle gange (5–29 %) | I 2 tilstande |
| DPYDdihydropyrimidine dehydrogenase | Nogle gange (5–29 %) | I 1 tilstand |
| DYMdymeclin | Nogle gange (5–29 %) | I 1 tilstand |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ERAP1endoplasmic reticulum aminopeptidase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| EXOSC3exosome component 3 | Nogle gange (5–29 %) | I 2 tilstande |
| EXOSC8exosome component 8 | Nogle gange (5–29 %) | I 2 tilstande |
| EXOSC9exosome component 9 | Nogle gange (5–29 %) | I 2 tilstande |
| FAAP100FA core complex associated protein 100 | Nogle gange (5–29 %) | I 1 tilstand |
| FANCAFA complementation group A | Nogle gange (5–29 %) | I 1 tilstand |
| FANCBFA complementation group B | Nogle gange (5–29 %) | I 1 tilstand |
| FANCCFA complementation group C | Nogle gange (5–29 %) | I 1 tilstand |
| FANCD2FA complementation group D2 | Nogle gange (5–29 %) | I 1 tilstand |
| FANCEFA complementation group E | Nogle gange (5–29 %) | I 1 tilstand |
| FANCFFA complementation group F | Nogle gange (5–29 %) | I 1 tilstand |
| FANCGFA complementation group G | Nogle gange (5–29 %) | I 1 tilstand |
| FANCIFA complementation group I | Nogle gange (5–29 %) | I 1 tilstand |
| FANCLFA complementation group L | Nogle gange (5–29 %) | I 1 tilstand |
| FANCMFA complementation group M | Nogle gange (5–29 %) | I 1 tilstand |
| FASFas cell surface death receptor | Nogle gange (5–29 %) | I 1 tilstand |
| FBXO22F-box protein 22 | Nogle gange (5–29 %) | I 1 tilstand |
| FKRPfukutin related protein | Nogle gange (5–29 %) | I 1 tilstand |
| GAD1glutamate decarboxylase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GALCgalactosylceramidase | Nogle gange (5–29 %) | I 1 tilstand |
| GARS1glycyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 2 tilstande |
| GBA1glucosylceramidase beta 1 | Nogle gange (5–29 %) | I 2 tilstande |
| GCLCglutamate-cysteine ligase catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GMPPAGDP-mannose pyrophosphorylase A | Nogle gange (5–29 %) | I 2 tilstande |
| GMPPBGDP-mannose pyrophosphorylase B | Nogle gange (5–29 %) | I 1 tilstand |
| GNB1G protein subunit beta 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GNB2G protein subunit beta 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GRNgranulin precursor | Nogle gange (5–29 %) | I 1 tilstand |
| H4C5H4 clustered histone 5 | Nogle gange (5–29 %) | I 1 tilstand |
| HIKESHIheat shock protein nuclear import factor hikeshi | Nogle gange (5–29 %) | I 1 tilstand |
| HLA-Bmajor histocompatibility complex, class I, B | Nogle gange (5–29 %) | I 1 tilstand |
| HPRT1hypoxanthine phosphoribosyltransferase 1 | Nogle gange (5–29 %) | I 2 tilstande |
| HTRA2HtrA serine peptidase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| IFNGR1interferon gamma receptor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| IL10interleukin 10 | Nogle gange (5–29 %) | I 1 tilstand |
| IL12Ainterleukin 12A | Nogle gange (5–29 %) | I 1 tilstand |
| IL12A-AS1IL12A antisense RNA 1 | Nogle gange (5–29 %) | I 1 tilstand |
| IL23Rinterleukin 23 receptor | Nogle gange (5–29 %) | I 1 tilstand |
| IRF2BPLinterferon regulatory factor 2 binding protein like | Nogle gange (5–29 %) | I 1 tilstand |
| ISCA2iron-sulfur cluster assembly 2 | Nogle gange (5–29 %) | I 2 tilstande |
| JPH3junctophilin 3 | Nogle gange (5–29 %) | I 2 tilstande |
| KCNJ18potassium inwardly rectifying channel subfamily J member 18 | Nogle gange (5–29 %) | I 1 tilstand |
| KLRC4killer cell lectin like receptor C4 | Nogle gange (5–29 %) | I 1 tilstand |
| LRRK2leucine rich repeat kinase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MAD2L2mitotic arrest deficient 2 like 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MAPTmicrotubule associated protein tau | Nogle gange (5–29 %) | I 1 tilstand |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Nogle gange (5–29 %) | I 1 tilstand |
| MEFVMEFV innate immunity regulator, pyrin | Nogle gange (5–29 %) | I 1 tilstand |
| MFN2mitofusin 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MORC2MORC family CW-type zinc finger 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Nogle gange (5–29 %) | I 2 tilstande |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Nogle gange (5–29 %) | I 1 tilstand |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Nogle gange (5–29 %) | I 1 tilstand |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| NAA20N-alpha-acetyltransferase 20, NatB catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| NDPnorrin cystine knot growth factor NDP | Nogle gange (5–29 %) | I 1 tilstand |
| NDUFAF3NADH:ubiquinone oxidoreductase complex assembly factor 3 | Nogle gange (5–29 %) | I 1 tilstand |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Nogle gange (5–29 %) | I 1 tilstand |
| PALB2partner and localizer of BRCA2 | Nogle gange (5–29 %) | I 1 tilstand |
| PARK7Parkinsonism associated deglycase | Nogle gange (5–29 %) | I 1 tilstand |
| PINK1PTEN induced kinase 1 | Nogle gange (5–29 %) | I 2 tilstande |
| PODXLpodocalyxin like | Nogle gange (5–29 %) | I 1 tilstand |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Nogle gange (5–29 %) | I 1 tilstand |
| POMKprotein O-mannose kinase | Nogle gange (5–29 %) | I 1 tilstand |
| POMT1protein O-mannosyltransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| POMT2protein O-mannosyltransferase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PPFIA3PPFI scaffold protein A3 | Nogle gange (5–29 %) | I 1 tilstand |
| PPOXprotoporphyrinogen oxidase | Nogle gange (5–29 %) | I 1 tilstand |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PSEN1presenilin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PTS6-pyruvoyltetrahydropterin synthase | Nogle gange (5–29 %) | I 2 tilstande |
| PUS3pseudouridine synthase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| QARS1glutaminyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RAD51RAD51 recombinase | Nogle gange (5–29 %) | I 1 tilstand |
| RAD51CRAD51 paralog C | Nogle gange (5–29 %) | I 1 tilstand |
| REEP1receptor accessory protein 1 | Nogle gange (5–29 %) | I 2 tilstande |
| RFWD3ring finger and WD repeat domain 3 | Nogle gange (5–29 %) | I 1 tilstand |
| RFX7regulatory factor X7 | Nogle gange (5–29 %) | I 1 tilstand |
| RNASEH1ribonuclease H1 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC1A3solute carrier family 1 member 3 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC25A46solute carrier family 25 member 46 | Nogle gange (5–29 %) | I 2 tilstande |
| SLC29A3solute carrier family 29 member 3 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC35C1solute carrier family 35 member C1 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC39A8solute carrier family 39 member 8 | Nogle gange (5–29 %) | I 2 tilstande |
| SLC46A1solute carrier family 46 member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SLX4SLX4 structure-specific endonuclease subunit | Nogle gange (5–29 %) | I 1 tilstand |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Nogle gange (5–29 %) | I 1 tilstand |
| STAT4signal transducer and activator of transcription 4 | Nogle gange (5–29 %) | I 1 tilstand |
| SYNJ1synaptojanin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TANGO2transport and golgi organization 2 homolog | Nogle gange (5–29 %) | I 1 tilstand |
| TBX4T-box transcription factor 4 | Nogle gange (5–29 %) | I 1 tilstand |
| TICAM1TIR domain containing adaptor molecule 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TIMM50translocase of inner mitochondrial membrane 50 | Nogle gange (5–29 %) | I 2 tilstande |
| TLR3toll like receptor 3 | Nogle gange (5–29 %) | I 1 tilstand |
| TLR4toll like receptor 4 | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM106Btransmembrane protein 106B | Nogle gange (5–29 %) | I 2 tilstande |
| TRAF3TNF receptor associated factor 3 | Nogle gange (5–29 %) | I 1 tilstand |
| TRAPPC11trafficking protein particle complex subunit 11 | Nogle gange (5–29 %) | I 1 tilstand |
| TSEN15tRNA splicing endonuclease subunit 15 | Nogle gange (5–29 %) | I 1 tilstand |
| TTC19tetratricopeptide repeat domain 19 | Nogle gange (5–29 %) | I 1 tilstand |
| UBAC2UBA domain containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| UBE2Tubiquitin conjugating enzyme E2 T | Nogle gange (5–29 %) | I 1 tilstand |
| UNC93B1unc-93B1 regulator of TLR signaling | Nogle gange (5–29 %) | I 1 tilstand |
| VRK1VRK serine/threonine kinase 1 | Nogle gange (5–29 %) | I 3 tilstande |
| WLSWnt ligand secretion mediator | Nogle gange (5–29 %) | I 1 tilstand |
| XRCC2X-ray repair cross complementing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ZEB2zinc finger E-box binding homeobox 2 | Nogle gange (5–29 %) | I 1 tilstand |
| FDX2ferredoxin 2 | Sjældent (1–4%) | I 1 tilstand |
| ABCC8ATP binding cassette subfamily C member 8 | Ikke registreret | I 1 tilstand |
| ABHD12abhydrolase domain containing 12, lysophospholipase | Ikke registreret | I 1 tilstand |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Ikke registreret | I 1 tilstand |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Ikke registreret | I 1 tilstand |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Ikke registreret | I 1 tilstand |
| ARSAarylsulfatase A | Ikke registreret | I 1 tilstand |
| ATL1atlastin GTPase 1 | Ikke registreret | I 2 tilstande |
| ATP5MC3ATP synthase membrane subunit c locus 3 | Ikke registreret | I 1 tilstand |
| ATP6V1AATPase H+ transporting V1 subunit A | Ikke registreret | I 1 tilstand |
| ATRXATRX chromatin remodeler | Ikke registreret | I 1 tilstand |
| ATXN1ataxin 1 | Ikke registreret | I 1 tilstand |
| AUHAU RNA binding methylglutaconyl-CoA hydratase | Ikke registreret | I 1 tilstand |
| BCS1LBCS1 ubiquinol-cytochrome c reductase complex chaperone | Ikke registreret | I 1 tilstand |
| C19orf12chromosome 19 open reading frame 12 | Ikke registreret | I 2 tilstande |
| CAV1caveolin 1 | Ikke registreret | I 1 tilstand |
| CNTNAP1contactin associated protein 1 | Ikke registreret | I 1 tilstand |
| COQ2coenzyme Q2, polyprenyltransferase | Ikke registreret | I 1 tilstand |
| COQ9coenzyme Q9 | Ikke registreret | I 1 tilstand |
| CREBBPCREB binding lysine acetyltransferase | Ikke registreret | I 1 tilstand |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Ikke registreret | I 1 tilstand |
| DENND5ADENN domain containing 5A | Ikke registreret | I 1 tilstand |
| DGUOKdeoxyguanosine kinase | Ikke registreret | I 1 tilstand |
| DLATdihydrolipoamide S-acetyltransferase | Ikke registreret | I 1 tilstand |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Ikke registreret | I 1 tilstand |
| DYNC1I2dynein cytoplasmic 1 intermediate chain 2 | Ikke registreret | I 1 tilstand |
| ELOVL4ELOVL fatty acid elongase 4 | Ikke registreret | I 1 tilstand |
| EP300EP300 lysine acetyltransferase | Ikke registreret | I 1 tilstand |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Ikke registreret | I 1 tilstand |
| FTLferritin light chain | Ikke registreret | I 1 tilstand |
| GAMTguanidinoacetate N-methyltransferase | Ikke registreret | I 1 tilstand |
| GANgigaxonin | Ikke registreret | I 1 tilstand |
| GFM1G elongation factor mitochondrial 1 | Ikke registreret | I 1 tilstand |
| GLB1galactosidase beta 1 | Ikke registreret | I 1 tilstand |
| GLDCglycine decarboxylase | Ikke registreret | I 1 tilstand |
| GLYCTKglycerate kinase | Ikke registreret | I 1 tilstand |
| HTRA1HtrA serine peptidase 1 | Ikke registreret | I 1 tilstand |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Ikke registreret | I 1 tilstand |
| IBA57iron-sulfur cluster assembly factor IBA57 | Ikke registreret | I 1 tilstand |
| JAM2junctional adhesion molecule 2 | Ikke registreret | I 1 tilstand |
| JAM3junctional adhesion molecule 3 | Ikke registreret | I 1 tilstand |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Ikke registreret | I 1 tilstand |
| KIF1Akinesin family member 1A | Ikke registreret | I 2 tilstande |
| MAN2B1mannosidase alpha class 2B member 1 | Ikke registreret | I 1 tilstand |
| MAT1Amethionine adenosyltransferase 1A | Ikke registreret | I 1 tilstand |
| MBOAT7membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7 | Ikke registreret | I 1 tilstand |
| MCCC2methylcrotonyl-CoA carboxylase subunit 2 | Ikke registreret | I 1 tilstand |
| MECP2methyl-CpG binding protein 2 | Ikke registreret | I 2 tilstande |
| MRPS34mitochondrial ribosomal protein S34 | Ikke registreret | I 1 tilstand |
| MYORGmyogenesis regulating glycosidase | Ikke registreret | I 2 tilstande |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Ikke registreret | I 1 tilstand |
| NAGAalpha-N-acetylgalactosaminidase | Ikke registreret | I 1 tilstand |
| NALCNsodium leak channel, non-selective | Ikke registreret | I 1 tilstand |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Ikke registreret | I 1 tilstand |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Ikke registreret | I 1 tilstand |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Ikke registreret | I 1 tilstand |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Ikke registreret | I 1 tilstand |
| NDUFS7NADH:ubiquinone oxidoreductase core subunit S7 | Ikke registreret | I 1 tilstand |
| NDUFS8NADH:ubiquinone oxidoreductase core subunit S8 | Ikke registreret | I 1 tilstand |
| NEU1neuraminidase 1 | Ikke registreret | I 1 tilstand |
| NFASCneurofascin | Ikke registreret | I 1 tilstand |
| NIPA1NIPA magnesium transporter 1 | Ikke registreret | I 1 tilstand |
| NSD1nuclear receptor binding SET domain protein 1 | Ikke registreret | I 1 tilstand |
| NSUN2NOP2/Sun RNA methyltransferase 2 | Ikke registreret | I 1 tilstand |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Ikke registreret | I 1 tilstand |
| OPA1OPA1 mitochondrial dynamin like GTPase | Ikke registreret | I 1 tilstand |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Ikke registreret | I 1 tilstand |
| PAHphenylalanine hydroxylase | Ikke registreret | I 1 tilstand |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Ikke registreret | I 1 tilstand |
| PCDH12protocadherin 12 | Ikke registreret | I 1 tilstand |
| PDGFBplatelet derived growth factor subunit B | Ikke registreret | I 1 tilstand |
| PDGFRBplatelet derived growth factor receptor beta | Ikke registreret | I 1 tilstand |
| PLCB1phospholipase C beta 1 | Ikke registreret | I 1 tilstand |
| PQBP1polyglutamine binding protein 1 | Ikke registreret | I 1 tilstand |
| PRKCGprotein kinase C gamma | Ikke registreret | I 1 tilstand |
| PRNPprion protein (Kanno blood group) | Ikke registreret | I 1 tilstand |
| RARS2arginyl-tRNA synthetase 2, mitochondrial | Ikke registreret | I 1 tilstand |
| RFT1RFT1 glycolipid translocator homolog | Ikke registreret | I 1 tilstand |
| RLIMring finger protein, LIM domain interacting | Ikke registreret | I 1 tilstand |
| RNASEH2Cribonuclease H2 subunit C | Ikke registreret | I 1 tilstand |
| SACSsacsin molecular chaperone | Ikke registreret | I 1 tilstand |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Ikke registreret | I 1 tilstand |
| SETXsenataxin | Ikke registreret | I 1 tilstand |
| SHMT2serine hydroxymethyltransferase 2 | Ikke registreret | I 1 tilstand |
| SLC20A2solute carrier family 20 member 2 | Ikke registreret | I 1 tilstand |
| SLC52A3solute carrier family 52 member 3 | Ikke registreret | I 1 tilstand |
| SPASTspastin | Ikke registreret | I 1 tilstand |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Ikke registreret | I 1 tilstand |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Ikke registreret | I 1 tilstand |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Ikke registreret | I 1 tilstand |
| TRAK1trafficking kinesin protein 1 | Ikke registreret | I 1 tilstand |
| UBE3Aubiquitin protein ligase E3A | Ikke registreret | I 1 tilstand |
| VAC14VAC14 component of PIKFYVE complex | Ikke registreret | I 1 tilstand |
| VPS13Dvacuolar protein sorting 13 homolog D | Ikke registreret | I 1 tilstand |
| VWA3Bvon Willebrand factor A domain containing 3B | Ikke registreret | I 1 tilstand |
| WDR73WD repeat domain 73 | Ikke registreret | I 1 tilstand |
| XPR1xenotropic and polytropic retrovirus receptor 1 | Ikke registreret | I 1 tilstand |
| ZC4H2zinc finger C4H2-type containing | Ikke registreret | I 1 tilstand |
| ZFYVE26zinc finger FYVE-type containing 26 | 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 2026.10.18-8b139e39.
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