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Træk
Enlarged liver
Klinisk navn: Hepatomegaly
Abnormally increased size of the liver.
Resumé
- Kropssystem
- Abnormality of the digestive 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/hepatomegaly.json"
page <- fromJSON(url)
page$trait$nameEnlarged liverHP:0002240
AtlasHvem vi hjælperVores videnskabProdukterResultater
Log indSpørgSekvenér dit genom↗
Læs de gener, der er knyttet til Enlarged liver, og resten af dit genom, med én test.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger
Bestil min Genome Test258 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.
- Other Inborn Errors of ImmunityReads 81 of these genesAK2AP3B1ARPC5CASP10CD27CYBBAbout this report →
- Primary Mitochondrial DiseaseReads 56 of these genesPOLG2SCO1UQCRBFOXRED1NDUFA1NDUFA11About this report →
- Rare Hereditary Peripheral NeuropathiesReads 71 of these genesAPOA1ITPR3LMNAPEX1PEX14PEX6About this report →
- Leigh SyndromeReads 36 of these genesTRMUFOXRED1MT-ND1MT-ND3NDUFA1NDUFA9About this report →
Show 254 more reports
- Lysosomal Storage DiseaseReads 32 of these genesGBA1GLB1GNEIDSLIPAPSAPAbout this report →
- Hypertrophic CardiomyopathyReads 28 of these genesACADVLLDB3MYL2BRAFHADHAKRASAbout this report →
- Zellweger Spectrum & Peroxisome Biogenesis DisordersReads 13 of these genesPEX1PEX14PEX6PEX10PEX11BPEX12About this report →
- Noonan SyndromeReads 15 of these genesBRAFCBLKRASLZTR1MAP2K1MRASAbout this report →
- Congenital Disorders of GlycosylationReads 30 of these genesALG1ALG13ALG2ALG8ALG9COG7About this report →
- Fatty Acid Oxidation & Carnitine Cycle DisordersReads 12 of these genesACADVLCPT1ACPT2SLC25A20HMGCS2SLC22A5About this report →
- Rare Monogenic Autoinflammatory DiseasesReads 17 of these genesLYNSKIC2PSMB10ADA2DOCK11IFIH1About this report →
- LipodystrophyReads 10 of these genesAGPAT2LMNAAKT2LIPEPPARGCAVIN1About this report →
- OsteopetrosisReads 10 of these genesCLCN7OSTM1PLEKHM1TCIRG1LRP5SNX10About this report →
- Dyskeratosis CongenitaReads 12 of these genesACDCTC1DKC1NHP2NOP10NPM1About this report →
- Chronic Granulomatous DiseaseReads 6 of these genesCYBBCYBACYBC1NCF1NCF2NCF4About this report →
- Severe Combined ImmunodeficiencyReads 13 of these genesAK2DCLRE1CNHEJ1ADAIL2RGIL7RAbout this report →
- Autoimmune Lymphoproliferative Syndrome (ALPS)Reads 6 of these genesCASP10CTLA4FASFASLGKRASPRKCDAbout this report →
- Other Inherited LeukodystrophiesReads 20 of these genesPEX1PEX14PEX6PSAPPEX10PEX11BAbout this report →
- ThalassaemiaReads 5 of these genesHBBHBA1HBA2HBG1HBG2About this report →
- Familial Intrahepatic CholestasisReads 7 of these genesABCB11ABCB4ATP8B1ZFYVE19MYO5BKIF12About this report →
- Autoimmune DiseaseReads 10 of these genesCASP10CTLA4FASFASLGKRASPRKCDAbout this report →
- Methylmalonic & Propionic AcidemiaReads 8 of these genesMMACHCMMUTPCCAPCCBPRDX1LMBRD1About this report →
- Red Blood Cell Membrane DisordersReads 6 of these genesSLC4A1SPTA1SPTBPIEZO1KCNN4RHAGAbout this report →
- Inherited Neurodegenerative DisordersReads 40 of these genesCYP7B1FLVCR1PEX1PEX14PEX6PSAPAbout this report →
- Glycogen Storage DiseaseReads 8 of these genesG6PC1PHKG2PYGLSLC37A4PHKA2PHKBAbout this report →
- HemochromatosisReads 5 of these genesHJVHFESLC40A1TFR2HAMPAbout this report →
- Hereditary SpherocytosisReads 5 of these genesANK1EPB42SLC4A1SPTA1SPTBAbout this report →
- Urea Cycle DisorderReads 7 of these genesARG1SLC7A7ASLSLC25A13SLC25A15NAGSAbout this report →
- Familial Hemophagocytic LymphohistiocytosisReads 4 of these genesPRF1STX11STXBP2UNC13DAbout this report →
- GalactosemiaReads 4 of these genesGALEGALTGALK1GALMAbout this report →
- Mucopolysaccharidosis Type III (Sanfilippo Syndrome)Reads 4 of these genesGNSHGSNATSGSHNAGLUAbout this report →
- Polycystic Liver Disease (1 and 2)Reads 4 of these genesALG8LRP5PRKCSHSEC63About this report →
- Alpha-Mannosidosis and Other GlycoproteinosesReads 5 of these genesFUCA1NAGAAGANEU1MAN2B1About this report →
- Polycystic Kidney DiseaseReads 6 of these genesALG8ALG9PKD2NEK8IFT140PKHD1About this report →
- Aicardi-Goutieres SyndromeReads 5 of these genesIFIH1TREX1ADARRNU7-1RNASEH2AAbout this report →
- Hereditary Fructose Intolerance & Gluconeogenesis DefectsReads 3 of these genesALDOBFBP1PCK1About this report →
- X-Linked Lymphoproliferative Disease and XMENReads 3 of these genesMAGT1SH2D1AXIAPAbout this report →
- Diabetes MellitusReads 9 of these genesHNF4AAKT2SLC2A2ABCC8BSCL2KCNJ11About this report →
- Homocystinuria & Cobalamin DisordersReads 7 of these genesTCN2MMACHCPRDX1CBSLMBRD1MMAAAbout this report →
- Hereditary HypolipoproteinemiasReads 4 of these genesAPOA1LCATMTTPABCA1About this report →
- Congenital Dyserythropoietic AnaemiasReads 3 of these genesCDAN1KLF1CDIN1About this report →
- Type I InterferonopathiesReads 5 of these genesPSMB10IFIH1PSMB8TREX1USP18About this report →
- Activated PI3K-Delta Syndrome (APDS)Reads 2 of these genesPIK3CDPIK3R1About this report →
- CitrullinemiaReads 2 of these genesSLC25A13ASS1About this report →
- Niemann-Pick Disease Type CReads 2 of these genesNPC1NPC2About this report →
- Restrictive CardiomyopathyReads 2 of these genesTNNI3TNNT2About this report →
- Severe Inherited Insulin ResistanceReads 2 of these genesAKT2INSRAbout this report →
- Shwachman-Diamond SyndromeReads 2 of these genesEFL1SBDSAbout this report →
- Hereditary Methaemoglobinaemia and Unstable HaemoglobinsReads 3 of these genesHBBHBA1HBA2About this report →
- Dilated CardiomyopathyReads 9 of these genesLDB3LMNARAF1FLNCMYPNPGM1About this report →
- Common Variable Immunodeficiency (Monogenic CVID)Reads 4 of these genesCD19CR2ICOSTNFRSF13BAbout this report →
- Mendelian Susceptibility to Mycobacterial Disease (MSMD)Reads 4 of these genesIRF8IL12RB1STAT1RORCAbout this report →
- Hereditary Periodic Fever SyndromesReads 3 of these genesMVKNLRP3TNFRSF1AAbout this report →
- Peroxisomal Enzyme Disorders & Refsum DiseaseReads 3 of these genesAMACRACOX1HSD17B4About this report →
- Systemic Lupus ErythematosusReads 3 of these genesPRKCDTREX1DNASE1L3About this report →
- HyperinsulinismReads 4 of these genesINSRPMM2ABCC8KCNJ11About this report →
- Maturity-Onset Diabetes Of The YoungReads 4 of these genesHNF4AABCC8KCNJ11HNF1AAbout this report →
- Immuno-Osseous DysplasiasReads 2 of these genesRMRPRNU4ATACAbout this report →
- Leukocyte Adhesion DeficiencyReads 2 of these genesSLC35C1FERMT3About this report →
- Neuroacanthocytosis and Huntington Disease PhenocopiesReads 2 of these genesXKVPS13AAbout this report →
- Classic Organic AciduriasReads 3 of these genesHMGCLACAT1GCDHAbout this report →
- Ellis-van Creveld Syndrome and Cranioectodermal DysplasiaReads 3 of these genesWDR19IFT122WDR35About this report →
- Inherited Predisposition to Acute Myeloid LeukaemiaReads 3 of these genesGATA2TERCTERTAbout this report →
- IPEX Syndrome and Other TregopathiesReads 3 of these genesCTLA4DEF6IL2RBAbout this report →
- Left Ventricular NoncompactionReads 3 of these genesLDB3TNNT2MYBPC3About this report →
- Charcot-Marie-Tooth DiseaseReads 10 of these genesITPR3LMNAMARS1SCO2MFN2MPV17About this report →
- Neonatal Diabetes MellitusReads 5 of these genesSLC2A2ABCC8BSCL2KCNJ11GLIS3About this report →
- Nephronophthisis and Senior-Løken SyndromeReads 5 of these genesDCDC2WDR19NEK8NPHP3TMEM67About this report →
- Hereditary Optic NeuropathyReads 4 of these genesMT-ND1MT-ND4MT-ND5MT-ND6About this report →
- PolycythemiaReads 3 of these genesHBBHBA1HBA2About this report →
- Familial Pulmonary FibrosisReads 3 of these genesPARNRTEL1TERTAbout this report →
- PorphyriaReads 3 of these genesUROSHMBSCPOXAbout this report →
- Pyruvate Dehydrogenase & Pyruvate Carboxylase DeficiencyReads 3 of these genesDLDMPC1PCAbout this report →
- Hereditary Gastrointestinal Stromal TumourReads 2 of these genesKITPDGFRAAbout this report →
- 3-Methylglutaconic Aciduria Type 1Reads 1 of these genesAUHAbout this report →
- Acid Sphingomyelinase Deficiency (Niemann-Pick Disease Types A and B)Reads 1 of these genesSMPD1About this report →
- ARC Syndrome 1 (VPS33B)Reads 1 of these genesVPS33BAbout this report →
- ARC Syndrome 2 (VIPAS39)Reads 1 of these genesVIPAS39About this report →
- BAP1 Tumour Predisposition SyndromeReads 1 of these genesBAP1About this report →
- CHAPLE Disease (CD55 Deficiency)Reads 1 of these genesCD55About this report →
- CHARGE SyndromeReads 1 of these genesCHD7About this report →
- Chediak-Higashi syndromeReads 1 of these genesLYSTAbout this report →
- CLCN7-Related Hypopigmentation, Organomegaly and Delayed Myelination (HOD)Reads 1 of these genesCLCN7About this report →
- Congenital Bile Acid Synthesis Defect 1 (HSD3B7)Reads 1 of these genesHSD3B7About this report →
- Congenital Bile Acid Synthesis Defect 2Reads 1 of these genesAKR1D1About this report →
- CTNNB1 SyndromeReads 1 of these genesCTNNB1About this report →
- CYP7B1-Related Spastic Paraplegia and Liver DiseaseReads 1 of these genesCYP7B1About this report →
- Cystic FibrosisReads 1 of these genesCFTRAbout this report →
- CystinosisReads 1 of these genesCTNSAbout this report →
- Danon DiseaseReads 1 of these genesLAMP2About this report →
- Deficiency of Adenosine Deaminase 2 (DADA2)Reads 1 of these genesADA2About this report →
- Dyschromatosis Symmetrica HereditariaReads 1 of these genesADARAbout this report →
- Familial Mediterranean FeverReads 1 of these genesMEFVAbout this report →
- GAPO SyndromeReads 1 of these genesANTXR1About this report →
- Gaucher DiseaseReads 1 of these genesGBA1About this report →
- GM1 Gangliosidosis and Morquio B SyndromeReads 1 of these genesGLB1About this report →
- GUCY2D-Related Dominant Cone-Rod DystrophyReads 1 of these genesGUCY2DAbout this report →
- GUCY2D-Related Recessive RetinopathyReads 1 of these genesGUCY2DAbout this report →
- H SyndromeReads 1 of these genesSLC29A3About this report →
- Hajdu-Cheney SyndromeReads 1 of these genesNOTCH2About this report →
- Hepatic Veno-Occlusive Disease with Immunodeficiency (VODI)Reads 1 of these genesSP110About this report →
- Hereditary Leiomyomatosis and Renal Cell CancerReads 1 of these genesFHAbout this report →
- Hereditary Thrombocythaemia (JAK2)Reads 1 of these genesJAK2About this report →
- IFT140-Related CiliopathyReads 1 of these genesIFT140About this report →
- ITCH DeficiencyReads 1 of these genesITCHAbout this report →
- Johanson-Blizzard SyndromeReads 1 of these genesUBR1About this report →
- KCNH1-Related DisorderReads 1 of these genesKCNH1About this report →
- LAMA5-Related Multisystemic SyndromeReads 1 of these genesLAMA5About this report →
- Low phospholipid-associated cholelithiasisReads 1 of these genesABCB4About this report →
- Lysosomal Acid Lipase Deficiency (Wolman Disease and CESD)Reads 1 of these genesLIPAAbout this report →
- MDPL SyndromeReads 1 of these genesPOLD1About this report →
- Mitchell SyndromeReads 1 of these genesACOX1About this report →
- MPL-Related Hereditary ThrombocythaemiaReads 1 of these genesMPLAbout this report →
- MTX2-Related Mandibuloacral DysplasiaReads 1 of these genesMTX2About this report →
- Mucopolysaccharidosis Type I (Hurler and Scheie Syndromes)Reads 1 of these genesIDUAAbout this report →
- Mucopolysaccharidosis Type II (Hunter Syndrome)Reads 1 of these genesIDSAbout this report →
- Mucopolysaccharidosis Type IVA (Morquio A Syndrome)Reads 1 of these genesGALNSAbout this report →
- Mucopolysaccharidosis Type VI (Maroteaux-Lamy Syndrome)Reads 1 of these genesARSBAbout this report →
- Mucopolysaccharidosis Type VII (Sly Syndrome)Reads 1 of these genesGUSBAbout this report →
- Mucopolysaccharidosis-Plus SyndromeReads 1 of these genesVPS33AAbout this report →
- Mulibrey NanismReads 1 of these genesTRIM37About this report →
- NEK8-Related Renal-Hepatic-Pancreatic DysplasiaReads 1 of these genesNEK8About this report →
- NGLY1 DeficiencyReads 1 of these genesNGLY1About this report →
- OpsismodysplasiaReads 1 of these genesINPPL1About this report →
- Perlman SyndromeReads 1 of these genesDIS3L2About this report →
- PIK3R1-Related DisordersReads 1 of these genesPIK3R1About this report →
- Polyglucosan Body Myopathy 1 (RBCK1)Reads 1 of these genesRBCK1About this report →
- Pompe DiseaseReads 1 of these genesGAAAbout this report →
- PPP1R21-Related Neurodevelopmental DisorderReads 1 of these genesPPP1R21About this report →
- Prolidase DeficiencyReads 1 of these genesPEPDAbout this report →
- Pulmonary Alveolar MicrolithiasisReads 1 of these genesSLC34A2About this report →
- RNU4ATAC Spectrum DisorderReads 1 of these genesRNU4ATACAbout this report →
- Salla Disease and Free Sialic Acid Storage DiseaseReads 1 of these genesSLC17A5About this report →
- Saul-Wilson SyndromeReads 1 of these genesCOG4About this report →
- SCN4A-Related Congenital MyopathyReads 1 of these genesSCN4AAbout this report →
- SH2B3-Related Immune DysregulationReads 1 of these genesSH2B3About this report →
- Short-Rib Thoracic Dysplasia 7 (WDR35)Reads 1 of these genesWDR35About this report →
- Sickle Cell DiseaseReads 1 of these genesHBBAbout this report →
- Simpson-Golabi-Behmel SyndromeReads 1 of these genesGPC3About this report →
- Smith-Lemli-Opitz SyndromeReads 1 of these genesDHCR7About this report →
- Tylosis with Oesophageal CancerReads 1 of these genesRHBDF2About this report →
- UNC13A-Related Neurodevelopmental DisordersReads 1 of these genesUNC13AAbout this report →
- Very Long Chain Acyl-Coa Dehydrogenase DeficiencyReads 1 of these genesACADVLAbout this report →
- Wilson DiseaseReads 1 of these genesATP7BAbout this report →
- Joubert Syndrome And Related DisordersReads 6 of these genesARL13BCC2D2AINPP5ERPGRIP1LTMEM67TOGARAM1About this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 7 of these genesFLVCR1PEX6SCYL1CC2D2ATMEM67MTTPAbout this report →
- Sclerosing Bone Dysplasias (High Bone Mass)Reads 2 of these genesLRP5TGFB1About this report →
- Severe Congenital NeutropeniaReads 3 of these genesVPS45G6PC3SRP54About this report →
- HyperlipidemiaReads 3 of these genesGPIHBP1APOC2APOEAbout this report →
- Hereditary Visceral Myopathy, CIPO & MMIHSReads 2 of these genesFLNAERBB3About this report →
- Congenital Myasthenic SyndromeReads 4 of these genesALG2DPAGT1SCN4ASLC25A1About this report →
- DNA Repair DiseaseReads 5 of these genesDCLRE1CERCC1ERCC4ERCC6ERCC8About this report →
- Hepatic Porphyria DisordersReads 2 of these genesHMBSCPOXAbout this report →
- Hereditary Rickets (Hypophosphatemic and Vitamin D-Dependent)Reads 2 of these genesCYP27B1CYP2R1About this report →
- Hereditary Sideroblastic AnaemiasReads 2 of these genesYARS2GLRX5About this report →
- Pyruvate Kinase Deficiency and Other Red Cell Enzyme DisordersReads 2 of these genesPKLRGPIAbout this report →
- Acrodermatitis EnteropathicaReads 1 of these genesSLC39A4About this report →
- Alagille SyndromeReads 1 of these genesNOTCH2About this report →
- Biotinidase & Holocarboxylase DeficiencyReads 1 of these genesBTDAbout this report →
- Cerebral Arteriopathy with Subcortical Infarcts and LeukoencephalopathyReads 1 of these genesNOTCH3About this report →
- Cowden Syndrome (PTEN hamartoma tumour syndrome)Reads 1 of these genesPTENAbout this report →
- DOORS SyndromeReads 1 of these genesATP6V1B2About this report →
- Gilbert SyndromeReads 1 of these genesABCC2About this report →
- Hereditary Gingival FibromatosisReads 1 of these genesSOS1About this report →
- Hereditary Manganese Transporter DisordersReads 1 of these genesSLC30A10About this report →
- Hereditary Wilms TumourReads 1 of these genesWT1About this report →
- Metachromatic LeukodystrophyReads 1 of these genesPSAPAbout this report →
- Rare Inherited Megaloblastic AnaemiasReads 1 of these genesDHFRAbout this report →
- Sandhoff Disease and GM2 Activator DeficiencyReads 1 of these genesHEXBAbout this report →
- STAT1 and STAT3 Gain-of-Function DiseaseReads 1 of these genesSTAT1About this report →
- Tubular Aggregate MyopathyReads 1 of these genesSTIM1About this report →
- Distal MyopathiesReads 3 of these genesGNELDB3FLNCAbout this report →
- Inherited ThrombocytopeniasReads 4 of these genesGNEMPLGALESTIM1About this report →
- Retinitis PigmentosaReads 6 of these genesDHDDSFLVCR1CC2D2AHGSNATIFT140IFT172About this report →
- GPI Anchor Biosynthesis DefectsReads 3 of these genesPIGAPIGLPIGSAbout this report →
- Imprinting Disorders: Prader-Willi, Silver-Russell and Beckwith-WiedemannReads 2 of these genesCDKN1CIGF2About this report →
- Kidney CancerReads 2 of these genesMETBAP1About this report →
- Intellectual DisabilityReads 10 of these genesNSD2CTNNB1PIGLTCF4TFE3AHDC1About this report →
- Epilepsy (Full Panel)Reads 9 of these genesALG13FLNAPIGASCARB2PIGSATP6V1B2About this report →
- Meckel SyndromeReads 2 of these genesRPGRIP1LTMEM67About this report →
- Syndromic CraniosynostosisReads 3 of these genesWDR19IFT122WDR35About this report →
- Hermansky-Pudlak SyndromeReads 2 of these genesAP3B1AP3D1About this report →
- VitreoretinopathyReads 3 of these genesCTNNB1LRP5CTC1About this report →
- Hereditary AmyloidosisReads 2 of these genesAPOA1FGAAbout this report →
- Urinary and Renal System TumourReads 2 of these genesMETBAP1About this report →
- Congenital AfibrinogenemiaReads 1 of these genesFGAAbout this report →
- Congenital Diaphragmatic Hernia (Monogenic)Reads 1 of these genesALDH1A2About this report →
- Disorder of Copper MetabolismReads 1 of these genesATP7BAbout this report →
- EBV-Driven Lymphoproliferation and CARD11 Immune DysregulationReads 1 of these genesCD27About this report →
- Familial Periodic ParalysisReads 1 of these genesSCN4AAbout this report →
- Griscelli SyndromeReads 1 of these genesRAB27AAbout this report →
- Monogenic Precocious PubertyReads 1 of these genesDLK1About this report →
- Mucolipidoses (ML II, ML III and ML IV)Reads 1 of these genesGNPTABAbout this report →
- Myelodysplastic Syndrome (MDS)Reads 1 of these genesGATA2About this report →
- TyrosinemiaReads 1 of these genesFAHAbout this report →
- Myofibrillar MyopathiesReads 2 of these genesLDB3FLNCAbout this report →
- Limb-Girdle Muscular DystrophyReads 3 of these genesLMNATNPO3TRAPPC11About this report →
- Familial Atrial FibrillationReads 1 of these genesKCNQ1About this report →
- Familial Paget Disease of BoneReads 1 of these genesTNFRSF11AAbout this report →
- Fanconi Renotubular Syndrome and Renal GlucosuriaReads 1 of these genesHNF4AAbout this report →
- Hyper-IgM SyndromesReads 1 of these genesCD40LGAbout this report →
- Inherited Predisposition to Myeloid Blood CancersReads 1 of these genesGATA2About this report →
- Maple Syrup Urine DiseaseReads 1 of these genesDLDAbout this report →
- NeurofibromatosisReads 1 of these genesLZTR1About this report →
- PorokeratosisReads 1 of these genesMVKAbout this report →
- Short Qt SyndromeReads 1 of these genesKCNQ1About this report →
- Thiamine Transporter and Metabolism DisordersReads 1 of these genesSLC25A19About this report →
- 46,XY Differences of Sex Development and Gonadal DysgenesisReads 2 of these genesWT1ATRXAbout this report →
- Hereditary Corneal DystrophiesReads 2 of these genesNLRP1TCF4About this report →
- Alzheimer diseaseReads 1 of these genesAPOEAbout this report →
- Chronic Mucocutaneous CandidiasisReads 1 of these genesSTAT1About this report →
- MTOR Pathway Megalencephaly and Overgrowth DisordersReads 1 of these genesPIK3CAAbout this report →
- PancreatitisReads 1 of these genesTRPV6About this report →
- Periventricular Nodular HeterotopiaReads 1 of these genesFLNAAbout this report →
- Bardet-Biedl and Alström SyndromesReads 2 of these genesALMS1IFT172About this report →
- Heritable Pulmonary Arterial Hypertension (HPAH)Reads 1 of these genesCAV1About this report →
- Inflammatory Bowel Diseases (IBD)Reads 1 of these genesTGFB1About this report →
- Rare Inherited Bone Marrow Failure SyndromesReads 1 of these genesDNAJC21About this report →
- Renal Tubular AcidosisReads 1 of these genesSLC4A1About this report →
- Surfactant Metabolism DysfunctionReads 1 of these genesMARS1About this report →
- Microphthalmia, Anophthalmia & ColobomaReads 2 of these genesNDUFB11ERCC1About this report →
- Spinal Muscular AtrophyReads 2 of these genesBSCL2ASAH1About this report →
- Colorectal Cancer & PolyposisReads 1 of these genesPOLD1About this report →
- Inherited Parathyroid & Calcium-Sensing DisordersReads 1 of these genesCASRAbout this report →
- Waardenburg SyndromeReads 1 of these genesSOX10About this report →
- Hereditary Spastic ParaplegiaReads 3 of these genesCYP7B1RINT1BSCL2About this report →
- Thyroid CancerReads 2 of these genesCASRTRPV6About this report →
- Progressive Cardiac Conduction Disease & Sick Sinus SyndromeReads 1 of these genesLMNAAbout this report →
- Osteogenesis ImperfectaReads 2 of these genesLRP5IFIH1About this report →
- Hereditary Palmoplantar Keratodermas and Pachyonychia CongenitaReads 2 of these genesNLRP1RHBDF2About this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 2 of these genesSCN4ASLC2A1About this report →
- Epiphyseal and Spondyloepiphyseal DysplasiasReads 1 of these genesXYLT1About this report →
- ThrombophiliaReads 1 of these genesF5About this report →
- Agammaglobulinaemia (XLA and Autosomal Forms)Reads 1 of these genesPIK3R1About this report →
- Hereditary Pheochromocytoma and ParagangliomaReads 1 of these genesSDHDAbout this report →
- Long QT SyndromeReads 1 of these genesKCNQ1About this report →
- Marfan Like SyndromesReads 1 of these genesFBN1About this report →
- Rare Inherited Coagulation Factor DeficienciesReads 1 of these genesF5About this report →
- Familial HypomagnesemiaReads 1 of these genesTRPV6About this report →
- Heterotaxy & Laterality DefectsReads 1 of these genesZIC3About this report →
- Aortic AneurysmReads 1 of these genesFBN1About this report →
- Congenital Diarrhoeas & EnteropathiesReads 1 of these genesMYO5BAbout this report →
- Inherited Congenital Heart DefectsReads 1 of these genesFLNAAbout this report →
- Female InfertilityReads 2 of these genesGALTHSD17B4About this report →
- Parkinson DiseaseReads 1 of these genesGBA1About this report →
- Primary Lymphoedema & Lymphatic MalformationsReads 1 of these genesPIEZO1About this report →
- Ectodermal DysplasiasReads 1 of these genesNFKBIAAbout this report →
- Fanconi AnemiaReads 1 of these genesERCC4About this report →
- Congenital Stationary Night BlindnessReads 1 of these genesGUCY2DAbout this report →
- Congenital MyopathiesReads 1 of these genesMYPNAbout this report →
- Leber Congenital Amaurosis & RPE65-Related RetinopathyReads 1 of these genesGUCY2DAbout this report →
- Syndromic Complex Neurodevelopmental DisorderReads 1 of these genesTFE3About this report →
- Inherited IchthyosesReads 1 of these genesCLDN1About this report →
- Congenital Muscular DystrophiesReads 1 of these genesDPM2About this report →
- Nephrotic SyndromeReads 1 of these genesLAMA5About this report →
- Male InfertilityReads 1 of these genesCFTRAbout this report →
- Hypogonadotropic HypogonadismReads 1 of these genesCHD7About this report →
- Hearing Loss and DeafnessReads 1 of these genesMETAbout this report →
Læs de gener, der er knyttet til Enlarged liver, og resten af dit genom, med én test.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger
Bestil min Genome Test637 gener knyttet til Enlarged liver
Ændringer i disse gener forårsager sjældne tilstande, hvor Enlarged liver 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 |
|---|---|---|
| ABCB11ATP binding cassette subfamily B member 11 | Altid | I 3 tilstande |
| ABCB4ATP binding cassette subfamily B member 4 | Altid | I 1 tilstand |
| ABCD3ATP binding cassette subfamily D member 3 | Altid | I 1 tilstand |
| ACADVLacyl-CoA dehydrogenase very long chain | Altid | I 2 tilstande |
| AGPAT21-acylglycerol-3-phosphate O-acyltransferase 2 | Altid | I 1 tilstand |
| AK2adenylate kinase 2 | Altid | I 1 tilstand |
| ALDOAaldolase, fructose-bisphosphate A | Altid | I 1 tilstand |
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Altid | I 1 tilstand |
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Altid | I 1 tilstand |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Altid | I 2 tilstande |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Altid | I 2 tilstande |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Altid | I 2 tilstande |
| AMACRalpha-methylacyl-CoA racemase | Altid | I 1 tilstand |
| AP3B1adaptor related protein complex 3 subunit beta 1 | Altid | I 1 tilstand |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Altid | I 1 tilstand |
| APOA1apolipoprotein A1 | Altid | I 1 tilstand |
| ARG1arginase 1 | Altid | I 1 tilstand |
| ARL13BARF like GTPase 13B | Altid | I 1 tilstand |
| ARPC5actin related protein 2/3 complex subunit 5 | Altid | I 1 tilstand |
| ATAD3AATPase family AAA domain containing 3A | Altid | I 1 tilstand |
| ATP7BATPase copper transporting beta | Altid | I 2 tilstande |
| ATP8B1ATPase phospholipid transporting 8B1 | Altid | I 3 tilstande |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Altid | I 2 tilstande |
| BOLA3bolA family member 3 | Altid | I 2 tilstande |
| CALRcalreticulin | Altid | I 3 tilstande |
| CASP10caspase 10 | Altid | I 2 tilstande |
| CD27CD27 molecule | Altid | I 1 tilstand |
| CD81CD81 molecule | Altid | I 1 tilstand |
| CDAN1codanin 1 | Altid | I 1 tilstand |
| CIDECcell death inducing DFFA like effector c | Altid | I 2 tilstande |
| CLCN7Cl-/H+ antiporter 7 | Altid | I 3 tilstande |
| CLDN1claudin 1 | Altid | I 2 tilstande |
| COG7component of oligomeric golgi complex 7 | Altid | I 2 tilstande |
| COX14cytochrome c oxidase assembly factor COX14 | Altid | I 1 tilstand |
| CPT1Acarnitine palmitoyltransferase 1A | Altid | I 2 tilstande |
| CPT2carnitine palmitoyltransferase 2 | Altid | I 4 tilstande |
| CYBBcytochrome b-245 beta chain | Altid | I 2 tilstande |
| CYP7B1cytochrome P450 family 7 subfamily B member 1 | Altid | I 1 tilstand |
| DCDC2doublecortin domain containing 2 | Altid | I 2 tilstande |
| DCLRE1CDNA cross-link repair 1C | Altid | I 3 tilstande |
Vis 597 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| DHCR77-dehydrocholesterol reductase | Altid | I 1 tilstand |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Altid | I 2 tilstande |
| FLNAfilamin A | Altid | I 1 tilstand |
| FLVCR1FLVCR choline and heme transporter 1 | Altid | I 1 tilstand |
| G6PC1glucose-6-phosphatase catalytic subunit 1 | Altid | I 1 tilstand |
| GBA1glucosylceramidase beta 1 | Altid | I 8 tilstande |
| GLB1galactosidase beta 1 | Altid | I 3 tilstande |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Altid | I 2 tilstande |
| GON4Lgon-4 like | Altid | I 1 tilstand |
| GPD1glycerol-3-phosphate dehydrogenase 1 | Altid | I 1 tilstand |
| GPIHBP1glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 | Altid | I 1 tilstand |
| HBBhemoglobin subunit beta | Altid | I 5 tilstande |
| HCKHCK proto-oncogene, Src family tyrosine kinase | Altid | I 1 tilstand |
| HJVhemojuvelin BMP co-receptor | Altid | I 1 tilstand |
| HMOX1heme oxygenase 1 | Altid | I 2 tilstande |
| HNF4Ahepatocyte nuclear factor 4 alpha | Altid | I 2 tilstande |
| HYOU1hypoxia up-regulated 1 | Altid | I 1 tilstand |
| IDSiduronate 2-sulfatase | Altid | I 1 tilstand |
| IFT56intraflagellar transport 56 | Altid | I 1 tilstand |
| IL18BPinterleukin 18 binding protein | Altid | I 1 tilstand |
| IRF8interferon regulatory factor 8 | Altid | I 1 tilstand |
| ITKIL2 inducible T cell kinase | Altid | I 1 tilstand |
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Altid | I 1 tilstand |
| JAK2Janus kinase 2 | Altid | I 4 tilstande |
| JAM3junctional adhesion molecule 3 | Altid | I 1 tilstand |
| KLF1KLF transcription factor 1 | Altid | I 3 tilstande |
| LDB3LIM domain binding 3 | Altid | I 1 tilstand |
| LIPAlipase A, lysosomal acid type | Altid | I 4 tilstande |
| LMNAlamin A/C | Altid | I 5 tilstande |
| LYNLYN proto-oncogene, Src family tyrosine kinase | Altid | I 1 tilstand |
| MAN2B2mannosidase alpha class 2B member 2 | Altid | I 1 tilstand |
| MOGSmannosyl-oligosaccharide glucosidase | Altid | I 2 tilstande |
| MPImannose phosphate isomerase | Altid | I 2 tilstande |
| MPLMPL proto-oncogene, thrombopoietin receptor | Altid | I 2 tilstande |
| MRPS28mitochondrial ribosomal protein S28 | Altid | I 1 tilstand |
| MYL2myosin light chain 2 | Altid | I 1 tilstand |
| NFKBIANFKB inhibitor alpha | Altid | I 1 tilstand |
| NHEJ1non-homologous end joining factor 1 | Altid | I 1 tilstand |
| NSD2nuclear receptor binding SET domain protein 2 | Altid | I 1 tilstand |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Altid | I 2 tilstande |
| PDCD1programmed cell death 1 | Altid | I 1 tilstand |
| PEPDpeptidase D | Altid | I 2 tilstande |
| PEX1peroxisomal biogenesis factor 1 | Altid | I 4 tilstande |
| PEX14peroxisomal biogenesis factor 14 | Altid | I 3 tilstande |
| PEX6peroxisomal biogenesis factor 6 | Altid | I 4 tilstande |
| PHKG2phosphorylase kinase catalytic subunit gamma 2 | Altid | I 2 tilstande |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Altid | I 2 tilstande |
| PKD2polycystin 2, transient receptor potential cation channel | Altid | I 1 tilstand |
| PKLRpyruvate kinase L/R | Altid | I 1 tilstand |
| PLEKHM1pleckstrin homology and RUN domain containing M1 | Altid | I 1 tilstand |
| POLD3DNA polymerase delta 3, accessory subunit | Altid | I 1 tilstand |
| POLG2DNA polymerase gamma 2, accessory subunit | Altid | I 1 tilstand |
| PRF1perforin 1 | Altid | I 2 tilstande |
| PSAPprosaposin | Altid | I 3 tilstande |
| PSMG2proteasome assembly chaperone 2 | Altid | I 1 tilstand |
| PYGLglycogen phosphorylase L | Altid | I 2 tilstande |
| RBSNrabenosyn, RAB effector | Altid | I 1 tilstand |
| RC3H1ring finger and CCCH-type domains 1 | Altid | I 1 tilstand |
| RELREL proto-oncogene, NF-kB subunit | Altid | I 1 tilstand |
| RFT1RFT1 glycolipid translocator homolog | Altid | I 2 tilstande |
| RINT1RAD50 interactor 1 | Altid | I 1 tilstand |
| SCO1synthesis of cytochrome C oxidase 1 | Altid | I 2 tilstande |
| SCYL1SCY1 like pseudokinase 1 | Altid | I 1 tilstand |
| SDHDsuccinate dehydrogenase complex subunit D | Altid | I 1 tilstand |
| SH2B3SH2B adaptor protein 3 | Altid | I 1 tilstand |
| SKIC2SKI2 subunit of superkiller complex | Altid | I 2 tilstande |
| SLC25A20solute carrier family 25 member 20 | Altid | I 2 tilstande |
| SLC37A4solute carrier family 37 member 4 | Altid | I 4 tilstande |
| SMPD1sphingomyelin phosphodiesterase 1 | Altid | I 3 tilstande |
| SPIN4spindlin family member 4 | Altid | I 1 tilstand |
| STX11syntaxin 11 | Altid | I 2 tilstande |
| SUPT7LSPT7 like, STAGA complex subunit gamma | Altid | I 1 tilstand |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Altid | I 2 tilstande |
| TCN2transcobalamin 2 | Altid | I 1 tilstand |
| TMEM165transmembrane protein 165 | Altid | I 1 tilstand |
| TRACT cell receptor alpha constant | Altid | I 1 tilstand |
| TRAF3TNF receptor associated factor 3 | Altid | I 1 tilstand |
| TRMUtRNA mitochondrial 2-thiouridylase | Altid | I 2 tilstande |
| UBR1ubiquitin protein ligase E3 component n-recognin 1 | Altid | I 1 tilstand |
| UNC13Aunc-13 homolog A | Altid | I 1 tilstand |
| UQCRBubiquinol-cytochrome c reductase binding protein | Altid | I 1 tilstand |
| UROSuroporphyrinogen III synthase | Altid | I 1 tilstand |
| VIPAS39VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog | Altid | I 2 tilstande |
| VPS45vacuolar protein sorting 45 homolog | Altid | I 1 tilstand |
| WDR19WD repeat domain 19 | Altid | I 1 tilstand |
| ZFYVE19zinc finger FYVE-type containing 19 | Altid | I 1 tilstand |
| ADAadenosine deaminase | Meget ofte (80–99 %) | I 2 tilstande |
| AKT2AKT serine/threonine kinase 2 | Meget ofte (80–99 %) | I 1 tilstand |
| CASRcalcium sensing receptor | Meget ofte (80–99 %) | I 2 tilstande |
| CC2D2Acoiled-coil and C2 domain containing 2A | Meget ofte (80–99 %) | I 1 tilstand |
| CHD7chromodomain helicase DNA binding protein 7 | Meget ofte (80–99 %) | I 1 tilstand |
| CTNNB1catenin beta 1 | Meget ofte (80–99 %) | I 1 tilstand |
| CYBAcytochrome b-245 alpha chain | Meget ofte (80–99 %) | I 2 tilstande |
| CYBC1cytochrome b-245 chaperone 1 | Meget ofte (80–99 %) | I 1 tilstand |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Meget ofte (80–99 %) | I 1 tilstand |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Meget ofte (80–99 %) | I 1 tilstand |
| FUCA1alpha-L-fucosidase 1 | Meget ofte (80–99 %) | I 2 tilstande |
| GAAalpha glucosidase | Meget ofte (80–99 %) | I 2 tilstande |
| GPC3glypican 3 | Meget ofte (80–99 %) | I 2 tilstande |
| GPC4glypican 4 | Meget ofte (80–99 %) | I 1 tilstand |
| HMGCS23-hydroxy-3-methylglutaryl-CoA synthase 2 | Meget ofte (80–99 %) | I 1 tilstand |
| HSD3B7hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | Meget ofte (80–99 %) | I 2 tilstande |
| HYMAIhydatidiform mole associated and imprinted | Meget ofte (80–99 %) | I 1 tilstand |
| IDUAalpha-L-iduronidase | Meget ofte (80–99 %) | I 5 tilstande |
| IL2RGinterleukin 2 receptor subunit gamma | Meget ofte (80–99 %) | I 3 tilstande |
| IL7Rinterleukin 7 receptor | Meget ofte (80–99 %) | I 2 tilstande |
| INPP5Einositol polyphosphate-5-phosphatase E | Meget ofte (80–99 %) | I 1 tilstand |
| ITCHitchy E3 ubiquitin protein ligase | Meget ofte (80–99 %) | I 1 tilstand |
| LBRlamin B receptor | Meget ofte (80–99 %) | I 3 tilstande |
| LIPElipase E, hormone sensitive type | Meget ofte (80–99 %) | I 1 tilstand |
| LRP5LDL receptor related protein 5 | Meget ofte (80–99 %) | I 1 tilstand |
| MARS1methionyl-tRNA synthetase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| METMET proto-oncogene, receptor tyrosine kinase | Meget ofte (80–99 %) | I 1 tilstand |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Meget ofte (80–99 %) | I 2 tilstande |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Meget ofte (80–99 %) | I 2 tilstande |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Meget ofte (80–99 %) | I 2 tilstande |
| MVKmevalonate kinase | Meget ofte (80–99 %) | I 1 tilstand |
| MYO5Bmyosin VB | Meget ofte (80–99 %) | I 1 tilstand |
| NCF1neutrophil cytosolic factor 1 | Meget ofte (80–99 %) | I 2 tilstande |
| NCF2neutrophil cytosolic factor 2 | Meget ofte (80–99 %) | I 2 tilstande |
| NCF4neutrophil cytosolic factor 4 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFA11NADH:ubiquinone oxidoreductase subunit A11 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFAF1NADH:ubiquinone oxidoreductase complex assembly factor 1 | Meget ofte (80–99 %) | I 2 tilstande |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFAF3NADH:ubiquinone oxidoreductase complex assembly factor 3 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFAF8NADH:ubiquinone oxidoreductase complex assembly factor 8 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFB10NADH:ubiquinone oxidoreductase subunit B10 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFB3NADH:ubiquinone oxidoreductase subunit B3 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFB9NADH:ubiquinone oxidoreductase subunit B9 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Meget ofte (80–99 %) | I 2 tilstande |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFS3NADH:ubiquinone oxidoreductase core subunit S3 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Meget ofte (80–99 %) | I 2 tilstande |
| NDUFS6NADH:ubiquinone oxidoreductase subunit S6 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFS7NADH:ubiquinone oxidoreductase core subunit S7 | Meget ofte (80–99 %) | I 2 tilstande |
| NDUFS8NADH:ubiquinone oxidoreductase core subunit S8 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFV1NADH:ubiquinone oxidoreductase core subunit V1 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFV2NADH:ubiquinone oxidoreductase core subunit V2 | Meget ofte (80–99 %) | I 1 tilstand |
| NEK8NIMA related kinase 8 | Meget ofte (80–99 %) | I 2 tilstande |
| NLRP3NLR family pyrin domain containing 3 | Meget ofte (80–99 %) | I 2 tilstande |
| NPHP3nephrocystin 3 | Meget ofte (80–99 %) | I 2 tilstande |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Meget ofte (80–99 %) | I 1 tilstand |
| NUDCD3NudC domain containing 3 | Meget ofte (80–99 %) | I 1 tilstand |
| PEX10peroxisomal biogenesis factor 10 | Meget ofte (80–99 %) | I 3 tilstande |
| PEX11Bperoxisomal biogenesis factor 11 beta | Meget ofte (80–99 %) | I 2 tilstande |
| PEX12peroxisomal biogenesis factor 12 | Meget ofte (80–99 %) | I 4 tilstande |
| PEX13peroxisomal biogenesis factor 13 | Meget ofte (80–99 %) | I 2 tilstande |
| PEX16peroxisomal biogenesis factor 16 | Meget ofte (80–99 %) | I 3 tilstande |
| PEX19peroxisomal biogenesis factor 19 | Meget ofte (80–99 %) | I 2 tilstande |
| PEX2peroxisomal biogenesis factor 2 | Meget ofte (80–99 %) | I 3 tilstande |
| PEX26peroxisomal biogenesis factor 26 | Meget ofte (80–99 %) | I 3 tilstande |
| PEX3peroxisomal biogenesis factor 3 | Meget ofte (80–99 %) | I 3 tilstande |
| PEX5peroxisomal biogenesis factor 5 | Meget ofte (80–99 %) | I 3 tilstande |
| PHKA2phosphorylase kinase regulatory subunit alpha 2 | Meget ofte (80–99 %) | I 2 tilstande |
| PHKBphosphorylase kinase regulatory subunit beta | Meget ofte (80–99 %) | I 2 tilstande |
| PLAGL1PLAG1 like zinc finger 1 | Meget ofte (80–99 %) | I 1 tilstand |
| PPARGperoxisome proliferator activated receptor gamma | Meget ofte (80–99 %) | I 1 tilstand |
| PRKCSHPRKCSH beta subunit of glucosidase II | Meget ofte (80–99 %) | I 1 tilstand |
| PSMB10proteasome 20S subunit beta 10 | Meget ofte (80–99 %) | I 1 tilstand |
| RAB27ARAB27A, member RAS oncogene family | Meget ofte (80–99 %) | I 1 tilstand |
| RAG1recombination activating 1 | Meget ofte (80–99 %) | I 3 tilstande |
| RAG2recombination activating 2 | Meget ofte (80–99 %) | I 3 tilstande |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Meget ofte (80–99 %) | I 2 tilstande |
| RPGRIP1LRPGRIP1 like | Meget ofte (80–99 %) | I 1 tilstand |
| SCARB2scavenger receptor class B member 2 | Meget ofte (80–99 %) | I 1 tilstand |
| SCO2synthesis of cytochrome C oxidase 2 | Meget ofte (80–99 %) | I 2 tilstande |
| SEC63SEC63 protein translocation regulator | Meget ofte (80–99 %) | I 2 tilstande |
| SLC22A5solute carrier family 22 member 5 | Meget ofte (80–99 %) | I 2 tilstande |
| SLC7A7solute carrier family 7 member 7 | Meget ofte (80–99 %) | I 2 tilstande |
| SNX10sorting nexin 10 | Meget ofte (80–99 %) | I 2 tilstande |
| SUMF1sulfatase modifying factor 1 | Meget ofte (80–99 %) | I 2 tilstande |
| TIMMDC1translocase of inner mitochondrial membrane domain containing 1 | Meget ofte (80–99 %) | I 1 tilstand |
| TLR8toll like receptor 8 | Meget ofte (80–99 %) | I 1 tilstand |
| TMEM126Btransmembrane protein 126B | Meget ofte (80–99 %) | I 1 tilstand |
| TMEM67transmembrane protein 67 | Meget ofte (80–99 %) | I 3 tilstande |
| TNFSF11TNF superfamily member 11 | Meget ofte (80–99 %) | I 1 tilstand |
| TRIM37tripartite motif containing 37 | Meget ofte (80–99 %) | I 2 tilstande |
| TRPV6transient receptor potential cation channel subfamily V member 6 | Meget ofte (80–99 %) | I 1 tilstand |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Meget ofte (80–99 %) | I 1 tilstand |
| VPS4Avacuolar protein sorting 4 homolog A | Meget ofte (80–99 %) | I 1 tilstand |
| ZNFX1zinc finger NFX1-type containing 1 | Meget ofte (80–99 %) | I 1 tilstand |
| ABHD5abhydrolase domain containing 5, lysophosphatidic acid acyltransferase | Ofte (30–79 %) | I 2 tilstande |
| ACADMacyl-CoA dehydrogenase medium chain | Ofte (30–79 %) | I 2 tilstande |
| ACOX1acyl-CoA oxidase 1 | Ofte (30–79 %) | I 2 tilstande |
| ADA2adenosine deaminase 2 | Ofte (30–79 %) | I 1 tilstand |
| ADRA2Aadrenoceptor alpha 2A | Ofte (30–79 %) | I 1 tilstand |
| AGR2anterior gradient 2, protein disulphide isomerase family member | Ofte (30–79 %) | I 1 tilstand |
| AKR1D1aldo-keto reductase family 1 member D1 | Ofte (30–79 %) | I 2 tilstande |
| ALDH1A2aldehyde dehydrogenase 1 family member A2 | Ofte (30–79 %) | I 1 tilstand |
| ANK1ankyrin 1 | Ofte (30–79 %) | I 1 tilstand |
| APOC2apolipoprotein C2 | Ofte (30–79 %) | I 1 tilstand |
| APOEapolipoprotein E | Ofte (30–79 %) | I 1 tilstand |
| ARSBarylsulfatase B | Ofte (30–79 %) | I 1 tilstand |
| ASLargininosuccinate lyase | Ofte (30–79 %) | I 2 tilstande |
| ATP6AP1ATPase H+ transporting accessory protein 1 | Ofte (30–79 %) | I 1 tilstand |
| BMP6bone morphogenetic protein 6 | Ofte (30–79 %) | I 1 tilstand |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Ofte (30–79 %) | I 1 tilstand |
| CAVIN1caveolae associated protein 1 | Ofte (30–79 %) | I 1 tilstand |
| CBLCbl proto-oncogene | Ofte (30–79 %) | I 1 tilstand |
| CCDC47coiled-coil domain containing 47 | Ofte (30–79 %) | I 1 tilstand |
| CD28CD28 molecule | Ofte (30–79 %) | I 2 tilstande |
| CD4CD4 molecule | Ofte (30–79 %) | I 1 tilstand |
| COA8cytochrome c oxidase assembly factor 8 | Ofte (30–79 %) | I 1 tilstand |
| COG6component of oligomeric golgi complex 6 | Ofte (30–79 %) | I 1 tilstand |
| COX4I2cytochrome c oxidase subunit 4I2 | Ofte (30–79 %) | I 1 tilstand |
| CTLA4cytotoxic T-lymphocyte associated protein 4 | Ofte (30–79 %) | I 4 tilstande |
| DEF6DEF6 guanine nucleotide exchange factor | Ofte (30–79 %) | I 1 tilstand |
| DHRSXdehydrogenase/reductase X-linked | Ofte (30–79 %) | I 1 tilstand |
| DLDdihydrolipoamide dehydrogenase | Ofte (30–79 %) | I 2 tilstande |
| DOCK11dedicator of cytokinesis 11 | Ofte (30–79 %) | I 1 tilstand |
| EPB42erythrocyte membrane protein band 4.2 | Ofte (30–79 %) | I 1 tilstand |
| EWSR1EWS RNA binding protein 1 | Ofte (30–79 %) | I 1 tilstand |
| F5coagulation factor V | Ofte (30–79 %) | I 1 tilstand |
| FAHfumarylacetoacetate hydrolase | Ofte (30–79 %) | I 2 tilstande |
| FASFas cell surface death receptor | Ofte (30–79 %) | I 2 tilstande |
| FASLGFas ligand | Ofte (30–79 %) | I 2 tilstande |
| FBXL4F-box and leucine rich repeat protein 4 | Ofte (30–79 %) | I 1 tilstand |
| FOCADfocadhesin | Ofte (30–79 %) | I 1 tilstand |
| GALEUDP-galactose-4-epimerase | Ofte (30–79 %) | I 2 tilstande |
| GALTgalactose-1-phosphate uridylyltransferase | Ofte (30–79 %) | I 2 tilstande |
| GATA2GATA binding protein 2 | Ofte (30–79 %) | I 1 tilstand |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Ofte (30–79 %) | I 2 tilstande |
| GNSglucosamine (N-acetyl)-6-sulfatase | Ofte (30–79 %) | I 1 tilstand |
| GPIglucose-6-phosphate isomerase | Ofte (30–79 %) | I 1 tilstand |
| GPR35G protein-coupled receptor 35 | Ofte (30–79 %) | I 1 tilstand |
| GUSBglucuronidase beta | Ofte (30–79 %) | I 1 tilstand |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Ofte (30–79 %) | I 2 tilstande |
| HBA1hemoglobin subunit alpha 1 | Ofte (30–79 %) | I 2 tilstande |
| HBA2hemoglobin subunit alpha 2 | Ofte (30–79 %) | I 2 tilstande |
| HBG1hemoglobin subunit gamma 1 | Ofte (30–79 %) | I 1 tilstand |
| HBG2hemoglobin subunit gamma 2 | Ofte (30–79 %) | I 2 tilstande |
| HFEhomeostatic iron regulator | Ofte (30–79 %) | I 2 tilstande |
| HMBShydroxymethylbilane synthase | Ofte (30–79 %) | I 1 tilstand |
| HMGCL3-hydroxy-3-methylglutaryl-CoA lyase | Ofte (30–79 %) | I 2 tilstande |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Ofte (30–79 %) | I 1 tilstand |
| IFIH1interferon induced with helicase C domain 1 | Ofte (30–79 %) | I 1 tilstand |
| IL12Ainterleukin 12A | Ofte (30–79 %) | I 1 tilstand |
| IL12RB1interleukin 12 receptor subunit beta 1 | Ofte (30–79 %) | I 1 tilstand |
| INSRinsulin receptor | Ofte (30–79 %) | I 2 tilstande |
| IRF1interferon regulatory factor 1 | Ofte (30–79 %) | I 1 tilstand |
| IRF4interferon regulatory factor 4 | Ofte (30–79 %) | I 2 tilstande |
| IRF5interferon regulatory factor 5 | Ofte (30–79 %) | I 1 tilstand |
| KIF12kinesin family member 12 | Ofte (30–79 %) | I 1 tilstand |
| KIF20Akinesin family member 20A | Ofte (30–79 %) | I 2 tilstande |
| KRASKRas proto-oncogene, GTPase | Ofte (30–79 %) | I 1 tilstand |
| LAMA5laminin subunit alpha 5 | Ofte (30–79 %) | I 1 tilstand |
| LPIN2lipin 2 | Ofte (30–79 %) | I 1 tilstand |
| LYRM4LYR motif containing 4 | Ofte (30–79 %) | I 1 tilstand |
| LYSTlysosomal trafficking regulator | Ofte (30–79 %) | I 1 tilstand |
| LZTR1leucine zipper like post translational regulator 1 | Ofte (30–79 %) | I 1 tilstand |
| MADDMAP kinase activating death domain | Ofte (30–79 %) | I 2 tilstande |
| MAGT1magnesium transporter 1 | Ofte (30–79 %) | I 1 tilstand |
| MAP2K1mitogen-activated protein kinase kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| MFN2mitofusin 2 | Ofte (30–79 %) | I 1 tilstand |
| MMACHCmetabolism of cobalamin associated C | Ofte (30–79 %) | I 1 tilstand |
| MMEL1membrane metalloendopeptidase like 1 | Ofte (30–79 %) | I 1 tilstand |
| MMUTmethylmalonyl-CoA mutase | Ofte (30–79 %) | I 3 tilstande |
| MPV17mitochondrial inner membrane protein MPV17 | Ofte (30–79 %) | I 1 tilstand |
| MRASmuscle RAS oncogene homolog | Ofte (30–79 %) | I 1 tilstand |
| MRPL3mitochondrial ribosomal protein L3 | Ofte (30–79 %) | I 1 tilstand |
| MRPS7mitochondrial ribosomal protein S7 | Ofte (30–79 %) | I 1 tilstand |
| MST1macrophage stimulating 1 | Ofte (30–79 %) | I 1 tilstand |
| MTX2metaxin 2 | Ofte (30–79 %) | I 1 tilstand |
| NAE1NEDD8 activating enzyme E1 subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| NAGAalpha-N-acetylgalactosaminidase | Ofte (30–79 %) | I 2 tilstande |
| NDUFA2NADH:ubiquinone oxidoreductase subunit A2 | Ofte (30–79 %) | I 1 tilstand |
| NGLY1N-glycanase 1 | Ofte (30–79 %) | I 2 tilstande |
| NLRP1NLR family pyrin domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| NPC1NPC intracellular cholesterol transporter 1 | Ofte (30–79 %) | I 1 tilstand |
| NPC2NPC intracellular cholesterol transporter 2 | Ofte (30–79 %) | I 1 tilstand |
| NRASNRAS proto-oncogene, GTPase | Ofte (30–79 %) | I 3 tilstande |
| PCCApropionyl-CoA carboxylase subunit alpha | Ofte (30–79 %) | I 2 tilstande |
| PCCBpropionyl-CoA carboxylase subunit beta | Ofte (30–79 %) | I 2 tilstande |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Ofte (30–79 %) | I 1 tilstand |
| PIGMphosphatidylinositol glycan anchor biosynthesis class M | Ofte (30–79 %) | I 1 tilstand |
| PIGSphosphatidylinositol glycan anchor biosynthesis class S | Ofte (30–79 %) | I 1 tilstand |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Ofte (30–79 %) | I 1 tilstand |
| PLAAT3phospholipase A and acyltransferase 3 | Ofte (30–79 %) | I 1 tilstand |
| PMM2phosphomannomutase 2 | Ofte (30–79 %) | I 1 tilstand |
| PNPLA2patatin like domain 2, triacylglycerol lipase | Ofte (30–79 %) | I 3 tilstande |
| POU2AF1POU class 2 homeobox associating factor 1 | Ofte (30–79 %) | I 1 tilstand |
| PRDX1peroxiredoxin 1 | Ofte (30–79 %) | I 1 tilstand |
| PRKCDprotein kinase C delta | Ofte (30–79 %) | I 1 tilstand |
| PSKH1protein serine kinase H1 | Ofte (30–79 %) | I 1 tilstand |
| PSMB8proteasome 20S subunit beta 8 | Ofte (30–79 %) | I 1 tilstand |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Ofte (30–79 %) | I 1 tilstand |
| PTRH2peptidyl-tRNA hydrolase 2 | Ofte (30–79 %) | I 2 tilstande |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Ofte (30–79 %) | I 1 tilstand |
| RASA2RAS p21 protein activator 2 | Ofte (30–79 %) | I 1 tilstand |
| RBCK1RANBP2-type and C3HC4-type zinc finger containing 1 | Ofte (30–79 %) | I 1 tilstand |
| RHBDF2rhomboid 5 homolog 2 | Ofte (30–79 %) | I 1 tilstand |
| RIT1Ras like without CAAX 1 | Ofte (30–79 %) | I 1 tilstand |
| RRASRAS related | Ofte (30–79 %) | I 1 tilstand |
| RRAS2RAS related 2 | Ofte (30–79 %) | I 1 tilstand |
| SAA1serum amyloid A1 | Ofte (30–79 %) | I 1 tilstand |
| SASH3SAM and SH3 domain containing 3 | Ofte (30–79 %) | I 1 tilstand |
| SC5Dsterol-C5-desaturase | Ofte (30–79 %) | I 1 tilstand |
| SEMA4Dsemaphorin 4D | Ofte (30–79 %) | I 1 tilstand |
| SH2D1ASH2 domain containing 1A | Ofte (30–79 %) | I 1 tilstand |
| SHARPINSHANK associated RH domain interactor | Ofte (30–79 %) | I 1 tilstand |
| SKIC3SKI3 subunit of superkiller complex | Ofte (30–79 %) | I 2 tilstande |
| SLC19A1solute carrier family 19 member 1 | Ofte (30–79 %) | I 1 tilstand |
| SLC25A13solute carrier family 25 member 13 | Ofte (30–79 %) | I 2 tilstande |
| SLC25A15solute carrier family 25 member 15 | Ofte (30–79 %) | I 2 tilstande |
| SLC29A3solute carrier family 29 member 3 | Ofte (30–79 %) | I 1 tilstand |
| SLC2A2solute carrier family 2 member 2 | Ofte (30–79 %) | I 2 tilstande |
| SLC30A10solute carrier family 30 member 10 | Ofte (30–79 %) | I 2 tilstande |
| SLC4A1solute carrier family 4 member 1 (Diego blood group) | Ofte (30–79 %) | I 1 tilstand |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Ofte (30–79 %) | I 1 tilstand |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Ofte (30–79 %) | I 1 tilstand |
| SP110SP110 nuclear body protein | Ofte (30–79 %) | I 1 tilstand |
| SPIBSpi-B transcription factor | Ofte (30–79 %) | I 1 tilstand |
| SPRED2sprouty related EVH1 domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| SPTA1spectrin alpha, erythrocytic 1 | Ofte (30–79 %) | I 1 tilstand |
| SPTBspectrin beta, erythrocytic | Ofte (30–79 %) | I 1 tilstand |
| STAT1signal transducer and activator of transcription 1 | Ofte (30–79 %) | I 1 tilstand |
| STEAP3STEAP3 metalloreductase | Ofte (30–79 %) | I 1 tilstand |
| STIM1stromal interaction molecule 1 | Ofte (30–79 %) | I 1 tilstand |
| STXBP2syntaxin binding protein 2 | Ofte (30–79 %) | I 1 tilstand |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Ofte (30–79 %) | I 1 tilstand |
| TCF4transcription factor 4 | Ofte (30–79 %) | I 1 tilstand |
| TET2tet methylcytosine dioxygenase 2 | Ofte (30–79 %) | I 3 tilstande |
| TFE3transcription factor binding to IGHM enhancer 3 | Ofte (30–79 %) | I 1 tilstand |
| TMEM70transmembrane protein 70 | Ofte (30–79 %) | I 1 tilstand |
| TNFRSF11ATNF receptor superfamily member 11a | Ofte (30–79 %) | I 1 tilstand |
| TNFRSF1BTNF receptor superfamily member 1B | Ofte (30–79 %) | I 2 tilstande |
| TNFSF15TNF superfamily member 15 | Ofte (30–79 %) | I 1 tilstand |
| TNPO3transportin 3 | Ofte (30–79 %) | I 1 tilstand |
| TRAPPC11trafficking protein particle complex subunit 11 | Ofte (30–79 %) | I 2 tilstande |
| TREX1three prime repair exonuclease 1 | Ofte (30–79 %) | I 1 tilstand |
| UNC13Dunc-13 homolog D | Ofte (30–79 %) | I 1 tilstand |
| VMA12vacuolar ATPase assembly factor VMA12 | Ofte (30–79 %) | I 1 tilstand |
| VPS33BVPS33B late endosome and lysosome associated | Ofte (30–79 %) | I 2 tilstande |
| WDR83OSWD repeat domain 83 opposite strand | Ofte (30–79 %) | I 1 tilstand |
| WT1WT1 transcription factor | Ofte (30–79 %) | I 1 tilstand |
| XIAPX-linked inhibitor of apoptosis | Ofte (30–79 %) | I 2 tilstande |
| XKX-linked Kx blood group antigen, Kell and VPS13A binding protein | Ofte (30–79 %) | I 1 tilstand |
| XYLT1xylosyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| YARS1tyrosyl-tRNA synthetase 1 | Ofte (30–79 %) | I 1 tilstand |
| ZIC3Zic family zinc finger 3 | Ofte (30–79 %) | I 1 tilstand |
| ABCC2ATP binding cassette subfamily C member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ABCC8ATP binding cassette subfamily C member 8 | Nogle gange (5–29 %) | I 1 tilstand |
| ACAT1acetyl-CoA acetyltransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ACDACD shelterin complex subunit and telomerase recruitment factor | Nogle gange (5–29 %) | I 1 tilstand |
| ADAMTSL2ADAMTS like 2 | Nogle gange (5–29 %) | I 2 tilstande |
| ADARadenosine deaminase RNA specific | Nogle gange (5–29 %) | I 1 tilstand |
| AGAaspartylglucosaminidase | Nogle gange (5–29 %) | I 2 tilstande |
| AGGF1angiogenic factor with G-patch and FHA domains 1 | Nogle gange (5–29 %) | I 1 tilstand |
| AHDC1AT-hook DNA binding motif containing 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ALDOBaldolase, fructose-bisphosphate B | Nogle gange (5–29 %) | I 2 tilstande |
| ALMS1ALMS1 centrosome and basal body associated protein | Nogle gange (5–29 %) | I 2 tilstande |
| ASXL1ASXL transcriptional regulator 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ATP5F1AATP synthase F1 subunit alpha | Nogle gange (5–29 %) | I 1 tilstand |
| ATP5F1DATP synthase F1 subunit delta | Nogle gange (5–29 %) | I 1 tilstand |
| ATP5F1EATP synthase F1 subunit epsilon | Nogle gange (5–29 %) | I 1 tilstand |
| ATP5MKATP synthase membrane subunit k | Nogle gange (5–29 %) | I 1 tilstand |
| ATP5POATP synthase peripheral stalk subunit OSCP | Nogle gange (5–29 %) | I 1 tilstand |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Nogle gange (5–29 %) | I 1 tilstand |
| ATRXATRX chromatin remodeler | Nogle gange (5–29 %) | I 1 tilstand |
| AUHAU RNA binding methylglutaconyl-CoA hydratase | Nogle gange (5–29 %) | I 1 tilstand |
| B4GALT1beta-1,4-galactosyltransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| BAATbile acid-CoA:amino acid N-acyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| BAP1BRCA1 associated deubiquitinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Nogle gange (5–29 %) | I 3 tilstande |
| BTNL2butyrophilin like 2 | Nogle gange (5–29 %) | I 2 tilstande |
| C1QBPcomplement C1q binding protein | Nogle gange (5–29 %) | I 1 tilstand |
| C2orf69chromosome 2 open reading frame 69 | Nogle gange (5–29 %) | I 1 tilstand |
| CA2carbonic anhydrase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| CBScystathionine beta-synthase | Nogle gange (5–29 %) | I 1 tilstand |
| CNTNAP2contactin associated protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| COG4component of oligomeric golgi complex 4 | Nogle gange (5–29 %) | I 1 tilstand |
| COG5component of oligomeric golgi complex 5 | Nogle gange (5–29 %) | I 1 tilstand |
| CTC1CST telomere replication complex component 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CYP27B1cytochrome P450 family 27 subfamily B member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CYP2R1cytochrome P450 family 2 subfamily R member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DGUOKdeoxyguanosine kinase | Nogle gange (5–29 %) | I 2 tilstande |
| DKC1dyskerin pseudouridine synthase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DLK1delta like non-canonical Notch ligand 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DNASE1L3deoxyribonuclease 1L3 | Nogle gange (5–29 %) | I 1 tilstand |
| DOCK2dedicator of cytokinesis 2 | Nogle gange (5–29 %) | I 1 tilstand |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Nogle gange (5–29 %) | I 2 tilstande |
| DPM2dolichyl-phosphate mannosyltransferase subunit 2, regulatory | Nogle gange (5–29 %) | I 1 tilstand |
| EARS2glutamyl-tRNA synthetase 2, mitochondrial | Nogle gange (5–29 %) | I 1 tilstand |
| EFL1elongation factor like GTPase 1 | Nogle gange (5–29 %) | I 2 tilstande |
| EIF2AK3eukaryotic translation initiation factor 2 alpha kinase 3 | Nogle gange (5–29 %) | I 2 tilstande |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Nogle gange (5–29 %) | I 4 tilstande |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Nogle gange (5–29 %) | I 4 tilstande |
| EXTL3exostosin like glycosyltransferase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| FAM111BFAM111 trypsin like peptidase B | Nogle gange (5–29 %) | I 1 tilstand |
| FBN1fibrillin 1 | Nogle gange (5–29 %) | I 2 tilstande |
| FBP1fructose-bisphosphatase 1 | Nogle gange (5–29 %) | I 2 tilstande |
| FHfumarate hydratase | Nogle gange (5–29 %) | I 1 tilstand |
| FLNCfilamin C | Nogle gange (5–29 %) | I 1 tilstand |
| GALK1galactokinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GFM1G elongation factor mitochondrial 1 | Nogle gange (5–29 %) | I 2 tilstande |
| GIMAP5GTPase, IMAP family member 5 | Nogle gange (5–29 %) | I 1 tilstand |
| GUK1guanylate kinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| HEXBhexosaminidase subunit beta | Nogle gange (5–29 %) | I 1 tilstand |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Nogle gange (5–29 %) | I 3 tilstande |
| HPGD15-hydroxyprostaglandin dehydrogenase | Nogle gange (5–29 %) | I 1 tilstand |
| IFT122intraflagellar transport 122 | Nogle gange (5–29 %) | I 1 tilstand |
| IFT140intraflagellar transport 140 | Nogle gange (5–29 %) | I 1 tilstand |
| IL6interleukin 6 | Nogle gange (5–29 %) | I 1 tilstand |
| INPPL1inositol polyphosphate phosphatase like 1 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Nogle gange (5–29 %) | I 2 tilstande |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Nogle gange (5–29 %) | I 1 tilstand |
| KITKIT proto-oncogene, receptor tyrosine kinase | Nogle gange (5–29 %) | I 1 tilstand |
| KPTNkaptin, actin binding protein | Nogle gange (5–29 %) | I 1 tilstand |
| LACC1laccase domain multifunctional purine nucleosidase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| LAMP2lysosome associated membrane protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| LCATlecithin-cholesterol acyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| LIG4DNA ligase 4 | Nogle gange (5–29 %) | I 1 tilstand |
| LMBRD1LMBR1 domain containing 1 | Nogle gange (5–29 %) | I 1 tilstand |
| LTBP3latent transforming growth factor beta binding protein 3 | Nogle gange (5–29 %) | I 1 tilstand |
| MCTS1MCTS1 re-initiation and release factor | Nogle gange (5–29 %) | I 1 tilstand |
| MED12mediator complex subunit 12 | Nogle gange (5–29 %) | I 1 tilstand |
| MEG3maternally expressed 3 | Nogle gange (5–29 %) | I 1 tilstand |
| MICU1mitochondrial calcium uptake 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MIFmacrophage migration inhibitory factor | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Nogle gange (5–29 %) | I 2 tilstande |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-CYBmitochondrially encoded cytochrome b | 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-TEmitochondrially encoded tRNA-Glu (GAA/G) | Nogle gange (5–29 %) | I 1 tilstand |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Nogle gange (5–29 %) | I 1 tilstand |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | 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 |
| MTTPmicrosomal triglyceride transfer protein | Nogle gange (5–29 %) | I 1 tilstand |
| MYD88MYD88 innate immune signal transduction adaptor | Nogle gange (5–29 %) | I 1 tilstand |
| MYPNmyopalladin | Nogle gange (5–29 %) | I 1 tilstand |
| NEU1neuraminidase 1 | Nogle gange (5–29 %) | I 3 tilstande |
| NHP2NHP2 ribonucleoprotein | Nogle gange (5–29 %) | I 1 tilstand |
| NOP10NOP10 ribonucleoprotein | Nogle gange (5–29 %) | I 1 tilstand |
| NOTCH2notch receptor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| NPM1nucleophosmin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| OTUD5OTU deubiquitinase 5 | Nogle gange (5–29 %) | I 1 tilstand |
| PARNpoly(A)-specific ribonuclease | Nogle gange (5–29 %) | I 1 tilstand |
| PGM1phosphoglucomutase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PIEZO1piezo type mechanosensitive ion channel component 1 (Er blood group) | Nogle gange (5–29 %) | I 1 tilstand |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Nogle gange (5–29 %) | I 1 tilstand |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PKHD1PKHD1 ciliary IPT domain containing fibrocystin/polyductin | Nogle gange (5–29 %) | I 2 tilstande |
| POLD1DNA polymerase delta 1, catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Nogle gange (5–29 %) | I 1 tilstand |
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PUS7pseudouridine synthase 7 | Nogle gange (5–29 %) | I 1 tilstand |
| RFXANKregulatory factor X associated ankyrin containing protein | Nogle gange (5–29 %) | I 1 tilstand |
| RFXAPregulatory factor X associated protein | Nogle gange (5–29 %) | I 1 tilstand |
| RIPK1receptor interacting serine/threonine kinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RMND1required for meiotic nuclear division 1 homolog | Nogle gange (5–29 %) | I 1 tilstand |
| RNU7-1RNA, U7 small nuclear 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RORCRAR related orphan receptor C | Nogle gange (5–29 %) | I 1 tilstand |
| RTEL1regulator of telomere elongation helicase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RTL1retrotransposon Gag like 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Nogle gange (5–29 %) | I 1 tilstand |
| SF3B1splicing factor 3b subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SGSHN-sulfoglucosamine sulfohydrolase | Nogle gange (5–29 %) | I 1 tilstand |
| SLC25A1solute carrier family 25 member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC25A19solute carrier family 25 member 19 | Nogle gange (5–29 %) | I 2 tilstande |
| SLC34A2solute carrier family 34 member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC35C1solute carrier family 35 member C1 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC38A3solute carrier family 38 member 3 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC40A1solute carrier family 40 member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SLCO2A1solute carrier organic anion transporter family member 2A1 | Nogle gange (5–29 %) | I 1 tilstand |
| SNX14sorting nexin 14 | Nogle gange (5–29 %) | I 1 tilstand |
| SOCS1suppressor of cytokine signaling 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SOX10SRY-box transcription factor 10 | Nogle gange (5–29 %) | I 1 tilstand |
| SRSF2serine and arginine rich splicing factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| TERCtelomerase RNA component | Nogle gange (5–29 %) | I 1 tilstand |
| TERTtelomerase reverse transcriptase | Nogle gange (5–29 %) | I 1 tilstand |
| TFR2transferrin receptor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| TGFB1transforming growth factor beta 1 | Nogle gange (5–29 %) | I 2 tilstande |
| TINF2TERF1 interacting nuclear factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| TKFCtriokinase and FMN cyclase | Nogle gange (5–29 %) | I 1 tilstand |
| TKTtransketolase | Nogle gange (5–29 %) | I 1 tilstand |
| TNFRSF1ATNF receptor superfamily member 1A | Nogle gange (5–29 %) | I 1 tilstand |
| TNNI3troponin I3, cardiac type | Nogle gange (5–29 %) | I 1 tilstand |
| TNNT2troponin T2, cardiac type | Nogle gange (5–29 %) | I 1 tilstand |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TYMSthymidylate synthetase | Nogle gange (5–29 %) | I 1 tilstand |
| UCP2uncoupling protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| USB1U6 snRNA biogenesis phosphodiesterase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| USP18ubiquitin specific peptidase 18 | Nogle gange (5–29 %) | I 1 tilstand |
| VPS13Avacuolar protein sorting 13 homolog A | Nogle gange (5–29 %) | I 1 tilstand |
| WRAP53WD repeat containing antisense to TP53 | Nogle gange (5–29 %) | I 1 tilstand |
| YARS2tyrosyl-tRNA synthetase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ZNF699zinc finger protein 699 | Nogle gange (5–29 %) | I 1 tilstand |
| CFTRCF transmembrane conductance regulator | Sjældent (1–4%) | I 1 tilstand |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Sjældent (1–4%) | I 2 tilstande |
| FCGR2AFc gamma receptor IIa | Sjældent (1–4%) | I 1 tilstand |
| GALMgalactose mutarotase | Sjældent (1–4%) | I 1 tilstand |
| HNF1AHNF1 homeobox A | Sjældent (1–4%) | I 1 tilstand |
| NAGSN-acetylglutamate synthase | Sjældent (1–4%) | I 1 tilstand |
| PTENphosphatase and tensin homolog | Sjældent (1–4%) | I 1 tilstand |
| SBDSSBDS ribosome maturation factor | Sjældent (1–4%) | I 2 tilstande |
| ABCA1ATP binding cassette subfamily A member 1 | Ikke registreret | I 1 tilstand |
| AGLamylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase | Ikke registreret | I 1 tilstand |
| ANTXR1ANTXR cell adhesion molecule 1 | Ikke registreret | I 1 tilstand |
| ASAH1N-acylsphingosine amidohydrolase 1 | Ikke registreret | I 1 tilstand |
| ASS1argininosuccinate synthase 1 | Ikke registreret | I 1 tilstand |
| ATP6AP2ATPase H+ transporting accessory protein 2 | Ikke registreret | I 1 tilstand |
| BMP2bone morphogenetic protein 2 | Ikke registreret | I 1 tilstand |
| BTDbiotinidase | Ikke registreret | I 1 tilstand |
| CAV1caveolin 1 | Ikke registreret | I 1 tilstand |
| CD19CD19 molecule | Ikke registreret | I 1 tilstand |
| CD40LGCD40 ligand | Ikke registreret | I 1 tilstand |
| CD55CD55 molecule (Cromer blood group) | Ikke registreret | I 1 tilstand |
| CD96CD96 molecule | Ikke registreret | I 1 tilstand |
| CDIN1CDAN1 interacting nuclease 1 | Ikke registreret | I 1 tilstand |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Ikke registreret | I 1 tilstand |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Ikke registreret | I 1 tilstand |
| COX15cytochrome c oxidase assembly factor COX15 | Ikke registreret | I 1 tilstand |
| COX5Acytochrome c oxidase subunit 5A | Ikke registreret | I 1 tilstand |
| COX6B1cytochrome c oxidase subunit 6B1 | Ikke registreret | I 1 tilstand |
| CPOXcoproporphyrinogen oxidase | Ikke registreret | I 2 tilstande |
| CR2complement C3d receptor 2 | Ikke registreret | I 1 tilstand |
| CTNScystinosin, lysosomal cystine transporter | Ikke registreret | I 1 tilstand |
| DDRGK1DDRGK domain containing 1 | Ikke registreret | I 1 tilstand |
| DHFRdihydrofolate reductase | Ikke registreret | I 1 tilstand |
| DYNC2LI1dynein cytoplasmic 2 light intermediate chain 1 | Ikke registreret | I 1 tilstand |
| ERBB3erb-b2 receptor tyrosine kinase 3 | Ikke registreret | I 1 tilstand |
| ETFAelectron transfer flavoprotein subunit alpha | Ikke registreret | I 1 tilstand |
| ETFBelectron transfer flavoprotein subunit beta | Ikke registreret | I 1 tilstand |
| ETFDHelectron transfer flavoprotein dehydrogenase | Ikke registreret | I 1 tilstand |
| FASTKD2FASTK mitochondrial RNA regulator 2 | Ikke registreret | I 1 tilstand |
| FDX2ferredoxin 2 | Ikke registreret | I 1 tilstand |
| FERMT3FERM domain containing kindlin 3 | Ikke registreret | I 1 tilstand |
| FGAfibrinogen alpha chain | Ikke registreret | I 1 tilstand |
| G6PC3glucose-6-phosphatase catalytic subunit 3 | Ikke registreret | I 1 tilstand |
| GALNSgalactosamine (N-acetyl)-6-sulfatase | Ikke registreret | I 1 tilstand |
| GCDHglutaryl-CoA dehydrogenase | Ikke registreret | I 1 tilstand |
| GLIS3GLIS family zinc finger 3 | Ikke registreret | I 1 tilstand |
| GLRX5glutaredoxin 5 | Ikke registreret | I 1 tilstand |
| GNMTglycine N-methyltransferase | Ikke registreret | I 1 tilstand |
| GUCY2Dguanylate cyclase 2D, retinal | Ikke registreret | I 1 tilstand |
| HAMPhepcidin antimicrobial peptide | Ikke registreret | I 1 tilstand |
| ICOSinducible T cell costimulator | Ikke registreret | I 2 tilstande |
| IFT172intraflagellar transport 172 | Ikke registreret | I 1 tilstand |
| IGF2insulin like growth factor 2 | Ikke registreret | I 1 tilstand |
| IL1RNinterleukin 1 receptor antagonist | Ikke registreret | I 1 tilstand |
| IL2RBinterleukin 2 receptor subunit beta | Ikke registreret | I 1 tilstand |
| KCNN4potassium calcium-activated channel subfamily N member 4 | Ikke registreret | I 1 tilstand |
| KCNQ1potassium voltage-gated channel subfamily Q member 1 | Ikke registreret | I 1 tilstand |
| KCNQ1OT1KCNQ1 opposite strand/antisense transcript 1 | Ikke registreret | I 1 tilstand |
| LARS1leucyl-tRNA synthetase 1 | Ikke registreret | I 1 tilstand |
| MAN2B1mannosidase alpha class 2B member 1 | Ikke registreret | I 1 tilstand |
| MCM4minichromosome maintenance complex component 4 | Ikke registreret | I 1 tilstand |
| MEFVMEFV innate immunity regulator, pyrin | Ikke registreret | I 1 tilstand |
| MMAAmetabolism of cobalamin associated A | Ikke registreret | I 1 tilstand |
| MMABmetabolism of cobalamin associated B | Ikke registreret | I 1 tilstand |
| MPC1mitochondrial pyruvate carrier 1 | Ikke registreret | I 1 tilstand |
| MT-TNmitochondrially encoded tRNA-Asn (AAU/C) | Ikke registreret | I 1 tilstand |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Ikke registreret | I 1 tilstand |
| MYBPC3myosin binding protein C3 | Ikke registreret | I 1 tilstand |
| NAGLUN-acetyl-alpha-glucosaminidase | Ikke registreret | I 1 tilstand |
| NOTCH3notch receptor 3 | Ikke registreret | I 1 tilstand |
| OCLNoccludin | Ikke registreret | I 1 tilstand |
| PCpyruvate carboxylase | Ikke registreret | I 1 tilstand |
| PCK1phosphoenolpyruvate carboxykinase 1 | Ikke registreret | I 1 tilstand |
| PDGFRAplatelet derived growth factor receptor alpha | Ikke registreret | I 1 tilstand |
| PIK3C2Aphosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | Ikke registreret | I 1 tilstand |
| POLGDNA polymerase gamma, catalytic subunit | Ikke registreret | I 1 tilstand |
| PSMB4proteasome 20S subunit beta 4 | Ikke registreret | I 1 tilstand |
| PSTPIP1proline-serine-threonine phosphatase interacting protein 1 | Ikke registreret | I 1 tilstand |
| RHAGRh associated glycoprotein | Ikke registreret | I 1 tilstand |
| RHDRh blood group D antigen | Ikke registreret | I 1 tilstand |
| RNASEH2Aribonuclease H2 subunit A | Ikke registreret | I 1 tilstand |
| RNU4ATACRNA, U4atac small nuclear | Ikke registreret | I 1 tilstand |
| SLC17A5solute carrier family 17 member 5 | Ikke registreret | I 1 tilstand |
| SLC2A1solute carrier family 2 member 1 | Ikke registreret | I 1 tilstand |
| SLC39A4solute carrier family 39 member 4 | Ikke registreret | I 1 tilstand |
| SRP54signal recognition particle 54 | Ikke registreret | I 1 tilstand |
| SURF1SURF1 cytochrome c oxidase assembly factor | Ikke registreret | I 1 tilstand |
| TACO1translational activator of cytochrome c oxidase I | Ikke registreret | I 1 tilstand |
| TALDO1transaldolase 1 | Ikke registreret | I 1 tilstand |
| TNFRSF13BTNF receptor superfamily member 13B | Ikke registreret | I 1 tilstand |
| TNFRSF13CTNF receptor superfamily member 13C | Ikke registreret | I 1 tilstand |
| TSFMTs translation elongation factor, mitochondrial | Ikke registreret | I 1 tilstand |
| TUFMTu translation elongation factor, mitochondrial | Ikke registreret | I 1 tilstand |
| VMA22vacuolar ATPase assembly factor VMA22 | Ikke registreret | I 1 tilstand |
| WDR35WD repeat domain 35 | Ikke registreret | I 1 tilstand |
| ZAP70zeta chain of T cell receptor associated protein kinase 70 | 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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