Træk
Cardiac failure
Klinisk navn: Congestive heart failure
The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.
Resumé
- Også kaldet
- Cardiac failures, Heart failure, Cardiac insufficiency, CHF, Chronic heart failure
- Kropssystem
- Abnormality of the cardiovascular system
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/congestive-heart-failure.json"
page <- fromJSON(url)
page$trait$nameLæs de gener, der er knyttet til Cardiac failure, og resten af dit genom, med én test.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger
Bestil min Genome Test147 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.
- Dilated CardiomyopathyReads 41 of these genesABCC9BAG5LDB3MYBPC3MYZAPNRAPAbout this report →
- Hereditary Pheochromocytoma and ParagangliomaReads 9 of these genesSDHAMAXRETSDHAF2SDHBSDHCAbout this report →
- Inherited Congenital Heart DefectsReads 10 of these genesMYH6ACTC1ELNNKX2-5TAB2GATA4About this report →
- Hypertrophic CardiomyopathyReads 20 of these genesLDB3MYBPC3MYH6RAF1TNNI3TRIM63About this report →
Show 143 more reports
- Left Ventricular NoncompactionReads 6 of these genesLDB3MYBPC3ACTC1MYH7TNNT2TPM1About this report →
- Hereditary Hemorrhagic TelangiectasiaReads 4 of these genesACVRL1ENGGDF2SMAD4About this report →
- Distal MyopathiesReads 8 of these genesLDB3CRYABFLNCMYH7TTNHNRNPA1About this report →
- Arrhythmogenic CardiomyopathyReads 6 of these genesDSG2DESDSPJUPPLNTMEM43About this report →
- Progressive Cardiac Conduction Disease & Sick Sinus SyndromeReads 5 of these genesLMNADESSCN5ATRPM4TNNI3KAbout this report →
- Cutis LaxaReads 7 of these genesSLC2A10ATP6V1AEFEMP2ELNFBLN5LTBP1About this report →
- Myofibrillar MyopathiesReads 6 of these genesLDB3BAG3CRYABDESFLNCTTNAbout this report →
- Urinary and Renal System TumourReads 5 of these genesSDHARETSDHAF2SDHBVHLAbout this report →
- Malignant Endocrine NeoplasmReads 4 of these genesSDHARETSDHAF2SDHBAbout this report →
- PolycythemiaReads 4 of these genesHBA1HBA2EPAS1VHLAbout this report →
- Restrictive CardiomyopathyReads 2 of these genesTNNI3TNNT2About this report →
- Rare Hereditary Peripheral NeuropathiesReads 21 of these genesAPOA1LMNASCO2FBLN5HADHALYZAbout this report →
- Primary Mitochondrial DiseaseReads 16 of these genesNDUFAF1NDUFB11SCO1SCO2AARS2ACAD9About this report →
- HemochromatosisReads 3 of these genesHFEHAMPHJVAbout this report →
- Syndromic and Metabolic CardiomyopathiesReads 3 of these genesPRKAG2ACTN2NKX2-5About this report →
- Limb-Girdle Muscular DystrophyReads 7 of these genesSGCASGCDLMNAFKTNTCAPTTNAbout this report →
- Hereditary Arterial CalcificationReads 2 of these genesABCC6ENPP1About this report →
- Frontotemporal DementiaReads 4 of these genesPSEN1HNRNPA1HNRNPA2B1VCPAbout this report →
- Hereditary Optic NeuropathyReads 4 of these genesDNM1LMT-ND1MT-ND5MT-ND6About this report →
- Leigh SyndromeReads 9 of these genesSCO2MT-TKSDHAGTPBP3LRPPRCMT-ND1About this report →
- Inherited Neurodegenerative DisordersReads 20 of these genesDNM1LAARS2ATXN7PSEN1PSEN2SDHAAbout this report →
- Fatty Acid Oxidation & Carnitine Cycle DisordersReads 4 of these genesACAD9HADHAHADHBSLC22A5About this report →
- Carney Complex & Hereditary Adrenal Cushing SyndromeReads 2 of these genesPDE11APRKAR1AAbout this report →
- Hereditary Gastrointestinal Stromal TumourReads 2 of these genesSDHBSDHCAbout this report →
- Inherited Iron Metabolism DisordersReads 2 of these genesCPTFAbout this report →
- Aarskog-Scott SyndromeReads 1 of these genesFGD1About this report →
- ADCY5-Related DyskinesiaReads 1 of these genesADCY5About this report →
- Brugada SyndromeReads 1 of these genesSCN5AAbout this report →
- Butyrylcholinesterase DeficiencyReads 1 of these genesBCHEAbout this report →
- Caffey DiseaseReads 1 of these genesCOL1A1About this report →
- Danon DiseaseReads 1 of these genesLAMP2About this report →
- DCMA Syndrome (3-Methylglutaconic Aciduria Type 5)Reads 1 of these genesDNAJC19About this report →
- Dystrophinopathies (Duchenne and Becker Muscular Dystrophy)Reads 1 of these genesDMDAbout this report →
- Fabry DiseaseReads 1 of these genesGLAAbout this report →
- FGFR3-Related Chondrodysplasias (Achondroplasia and Related Conditions)Reads 1 of these genesFGFR3About this report →
- Friedreich AtaxiaReads 1 of these genesFXNAbout this report →
- GM1 Gangliosidosis and Morquio B SyndromeReads 1 of these genesGLB1About this report →
- Hereditary Leiomyomatosis and Renal Cell CancerReads 1 of these genesFHAbout this report →
- Mucopolysaccharidosis Type II (Hunter Syndrome)Reads 1 of these genesIDSAbout this report →
- Mucopolysaccharidosis-Plus SyndromeReads 1 of these genesVPS33AAbout this report →
- Mulibrey NanismReads 1 of these genesTRIM37About this report →
- P5CS Deficiency (ALDH18A1-Related)Reads 1 of these genesALDH18A1About this report →
- Polyglucosan Body Myopathy 1 (RBCK1)Reads 1 of these genesRBCK1About this report →
- Rett Syndrome and MECP2-Related DisordersReads 1 of these genesMECP2About this report →
- Salla Disease and Free Sialic Acid Storage DiseaseReads 1 of these genesSLC17A5About this report →
- Scalp-Ear-Nipple SyndromeReads 1 of these genesKCTD1About this report →
- SCN4A-Related Congenital MyopathyReads 1 of these genesSCN4AAbout this report →
- SPTBN1-Related Neurodevelopmental DisorderReads 1 of these genesSPTBN1About this report →
- Vici SyndromeReads 1 of these genesEPG5About this report →
- Von Hippel-Lindau DiseaseReads 1 of these genesVHLAbout this report →
- Werner SyndromeReads 1 of these genesWRNAbout this report →
- Lysosomal Storage DiseaseReads 7 of these genesLAMP2GLAGNPTABPNPLA2GLB1IDSAbout this report →
- Congenital MyopathiesReads 4 of these genesMYH7MYPNTTNSELENONAbout this report →
- Alzheimer diseaseReads 2 of these genesPSEN1PSEN2About this report →
- Hereditary Methaemoglobinaemia and Unstable HaemoglobinsReads 2 of these genesHBA1HBA2About this report →
- ThalassaemiaReads 2 of these genesHBA1HBA2About this report →
- Hereditary AmyloidosisReads 3 of these genesAPOA1LYZTTRAbout this report →
- LipodystrophyReads 3 of these genesLMNACAV1PPARGAbout this report →
- Hereditary HypolipoproteinemiasReads 2 of these genesAPOA1MTTPAbout this report →
- Inherited Parathyroid & Calcium-Sensing DisordersReads 2 of these genesCASRGNA11About this report →
- Thyroid CancerReads 4 of these genesNKX2-5CASRGNA11RETAbout this report →
- Cantú SyndromeReads 1 of these genesABCC9About this report →
- Cowden Syndrome (PTEN hamartoma tumour syndrome)Reads 1 of these genesPTENAbout this report →
- Encephalopathy due to Mitochondrial and Peroxisomal Fission DefectReads 1 of these genesDNM1LAbout this report →
- Juvenile Polyposis SyndromeReads 1 of these genesSMAD4About this report →
- Pseudoxanthoma ElasticumReads 1 of these genesABCC6About this report →
- STAT1 and STAT3 Gain-of-Function DiseaseReads 1 of these genesSTAT1About this report →
- Epidermolysis BullosaReads 3 of these genesDSPJUPDSTAbout this report →
- Osteogenesis ImperfectaReads 4 of these genesXYLT2COL1A1COL1A2IFIH1About this report →
- Kidney CancerReads 2 of these genesSDHBVHLAbout this report →
- Ehlers-Danlos SyndromeReads 3 of these genesPLOD1COL1A1COL1A2About this report →
- Mendelian Susceptibility to Mycobacterial Disease (MSMD)Reads 2 of these genesIL12BSTAT1About this report →
- Type I InterferonopathiesReads 2 of these genesIFIH1PSMB8About this report →
- Familial Periodic ParalysisReads 1 of these genesSCN4AAbout this report →
- Hirschsprung Disease & Related Enteric NeurocristopathiesReads 1 of these genesRETAbout this report →
- Immuno-Osseous DysplasiasReads 1 of these genesSMARCAL1About this report →
- Mucolipidoses (ML II, ML III and ML IV)Reads 1 of these genesGNPTABAbout this report →
- Tetralogy of FallotReads 1 of these genesNKX2-5About this report →
- Congenital Muscular DystrophiesReads 3 of these genesFKTNSELENONTRIP4About this report →
- Diabetes MellitusReads 3 of these genesGATA4GATA6MT-TL1About this report →
- Rare Monogenic Autoinflammatory DiseasesReads 3 of these genesIL36RNIFIH1PSMB8About this report →
- Hereditary Palmoplantar Keratodermas and Pachyonychia CongenitaReads 3 of these genesDSPTRPM4SNAP29About this report →
- NeurofibromatosisReads 1 of these genesNF1About this report →
- Overgrowth Syndromes (Sotos, Weaver, Tatton-Brown-Rahman, Malan)Reads 1 of these genesDNMT3AAbout this report →
- Pseudohypoparathyroidism & GNAS-Inactivation DisordersReads 1 of these genesPRKAR1AAbout this report →
- Thiamine Transporter and Metabolism DisordersReads 1 of these genesSLC19A2About this report →
- TubulinopathiesReads 1 of these genesTUBBAbout this report →
- Other Inborn Errors of ImmunityReads 7 of these genesIL6STMYD88NCF1SMARCAL1STAT1TET2About this report →
- Charcot-Marie-Tooth DiseaseReads 4 of these genesLMNASCO2FBLN5VCPAbout this report →
- Neonatal Diabetes MellitusReads 2 of these genesGATA4GATA6About this report →
- Chronic Mucocutaneous CandidiasisReads 1 of these genesSTAT1About this report →
- MTOR Pathway Megalencephaly and Overgrowth DisordersReads 1 of these genesPIK3CAAbout this report →
- Periventricular Nodular HeterotopiaReads 1 of these genesFLNAAbout this report →
- Epilepsy (Full Panel)Reads 6 of these genesATP6V1AMECP2SCN1BMDH2STRADAFLNAAbout this report →
- Chronic Granulomatous DiseaseReads 1 of these genesNCF1About this report →
- Hereditary Visceral Myopathy, CIPO & MMIHSReads 1 of these genesFLNAAbout this report →
- Heritable Pulmonary Arterial Hypertension (HPAH)Reads 1 of these genesCAV1About this report →
- Peroxisomal Enzyme Disorders & Refsum DiseaseReads 1 of these genesPHYHAbout this report →
- Rare Inherited Bone Marrow Failure SyndromesReads 1 of these genesMYSM1About this report →
- Vanishing White Matter DiseaseReads 1 of these genesAARS2About this report →
- Microphthalmia, Anophthalmia & ColobomaReads 2 of these genesNDUFB11RAB3GAP2About this report →
- Hyper-IgE SyndromeReads 1 of these genesIL6STAbout this report →
- Monogenic Obesity (Leptin-Melanocortin Pathway)Reads 1 of these genesCEP19About this report →
- Amyotrophic Lateral Sclerosis (ALS)Reads 2 of these genesHNRNPA1VCPAbout this report →
- Aicardi-Goutieres SyndromeReads 1 of these genesIFIH1About this report →
- Familial Glucocorticoid DeficiencyReads 1 of these genesTXNRD2About this report →
- Hereditary Rickets (Hypophosphatemic and Vitamin D-Dependent)Reads 1 of these genesENPP1About this report →
- Pyruvate Kinase Deficiency and Other Red Cell Enzyme DisordersReads 1 of these genesTPI1About this report →
- Other Inherited LeukodystrophiesReads 3 of these genesAARS2IFIH1PEX7About this report →
- Epiphyseal and Spondyloepiphyseal DysplasiasReads 1 of these genesXYLT1About this report →
- Long QT SyndromeReads 1 of these genesSCN5AAbout this report →
- Marfan Like SyndromesReads 1 of these genesFBN1About this report →
- Neurodegeneration with Brain Iron Accumulation (NBIA)Reads 1 of these genesCPAbout this report →
- Congenital Disorders of GlycosylationReads 3 of these genesCOG7DOLKFKTNAbout this report →
- Congenital Anomalies of the Kidney and Urinary TractReads 1 of these genesSOX17About this report →
- Familial HypomagnesemiaReads 1 of these genesRRAGDAbout this report →
- Usher SyndromeReads 1 of these genesCDH23About this report →
- Severe Congenital NeutropeniaReads 1 of these genesCLPBAbout this report →
- Aortic AneurysmReads 1 of these genesFBN1About this report →
- Diamond-Blackfan AnemiaReads 1 of these genesRPS19About this report →
- Zellweger Spectrum & Peroxisome Biogenesis DisordersReads 1 of these genesPEX7About this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 2 of these genesMTTPFXNAbout this report →
- Complex Cortical Dysplasia and Frontoparietal PolymicrogyriaReads 1 of these genesTUBBAbout this report →
- Monogenic Hypertension & Mineralocorticoid DisordersReads 1 of these genesKCNJ5About this report →
- 46,XY Differences of Sex Development and Gonadal DysgenesisReads 1 of these genesGATA4About this report →
- Hereditary Corneal DystrophiesReads 1 of these genesTCF4About this report →
- Congenital HypothyroidismReads 1 of these genesNKX2-5About this report →
- Autoimmune DiseaseReads 1 of these genesSTAT1About this report →
- Hereditary Sensory and Autonomic Neuropathies (incl. Familial Dysautonomia)Reads 1 of these genesDSTAbout this report →
- Noonan SyndromeReads 1 of these genesRAF1About this report →
- Bardet-Biedl and Alström SyndromesReads 1 of these genesALMS1About this report →
- Hereditary Congenital & Juvenile CataractReads 1 of these genesCRYABAbout this report →
- Lissencephaly Spectrum DisordersReads 1 of these genesRAB3GAP2About this report →
- Syndromic CraniosynostosisReads 1 of these genesFGFR3About this report →
- Hearing Loss and DeafnessReads 2 of these genesEYA4CDH23About this report →
- Intellectual DisabilityReads 3 of these genesMECP2SMAD4TCF4About this report →
- Congenital Myasthenic SyndromeReads 1 of these genesSCN4AAbout this report →
- VitreoretinopathyReads 1 of these genesXYLT2About this report →
- Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)Reads 1 of these genesATXN7About this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 1 of these genesSCN4AAbout this report →
- Male InfertilityReads 1 of these genesFKBP6About this report →
- Hypogonadotropic HypogonadismReads 1 of these genesRAB3GAP2About this report →
- Hereditary Spastic ParaplegiaReads 1 of these genesALDH18A1About this report →
Læs de gener, der er knyttet til Cardiac failure, og resten af dit genom, med én test.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger
Bestil min Genome Test270 gener knyttet til Cardiac failure
Ændringer i disse gener forårsager sjældne tilstande, hvor Cardiac failure 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 |
|---|---|---|
| ABCC6ATP binding cassette subfamily C member 6 | Altid | I 3 tilstande |
| ABCC9ATP binding cassette subfamily C member 9 | Altid | I 2 tilstande |
| AMOTL1angiomotin like 1 | Altid | I 1 tilstand |
| APOA1apolipoprotein A1 | Altid | I 1 tilstand |
| BAG5BAG cochaperone 5 | Altid | I 2 tilstande |
| DAND5DAN domain BMP antagonist family member 5 | Altid | I 1 tilstand |
| DNM1Ldynamin 1L | Altid | I 1 tilstand |
| DSG2desmoglein 2 | Altid | I 2 tilstande |
| FBN1fibrillin 1 | Altid | I 2 tilstande |
| GATAD1GATA zinc finger domain containing 1 | Altid | I 2 tilstande |
| LAMP2lysosome associated membrane protein 2 | Altid | I 1 tilstand |
| LDB3LIM domain binding 3 | Altid | I 3 tilstande |
| MYBPC3myosin binding protein C3 | Altid | I 3 tilstande |
| MYH6myosin heavy chain 6 | Altid | I 5 tilstande |
| MYZAPmyocardial zonula adherens protein | Altid | I 1 tilstand |
| NDUFAF1NADH:ubiquinone oxidoreductase complex assembly factor 1 | Altid | I 1 tilstand |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Altid | I 1 tilstand |
| NRAPnebulin related anchoring protein | Altid | I 2 tilstande |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Altid | I 2 tilstande |
| RFC4replication factor C subunit 4 | Altid | I 1 tilstand |
| RRAGCRas related GTP binding C | Altid | I 1 tilstand |
| SCO1synthesis of cytochrome C oxidase 1 | Altid | I 1 tilstand |
| SGCAsarcoglycan alpha | Altid | I 1 tilstand |
| SGCDsarcoglycan delta | Altid | I 2 tilstande |
| SOX17SRY-box transcription factor 17 | Altid | I 1 tilstand |
| TNNI3troponin I3, cardiac type | Altid | I 3 tilstande |
| TRIM63tripartite motif containing 63 | Altid | I 1 tilstand |
| VCLvinculin | Altid | I 2 tilstande |
| CSRP3cysteine and glycine rich protein 3 | Meget ofte (80–99 %) | I 2 tilstande |
| EYA4EYA transcriptional coactivator and phosphatase 4 | Meget ofte (80–99 %) | I 2 tilstande |
| GLAgalactosidase alpha | Meget ofte (80–99 %) | I 2 tilstande |
| HBA1hemoglobin subunit alpha 1 | Meget ofte (80–99 %) | I 1 tilstand |
| HBA2hemoglobin subunit alpha 2 | Meget ofte (80–99 %) | I 1 tilstand |
| LMNAlamin A/C | Meget ofte (80–99 %) | I 10 tilstande |
| PRKAG2protein kinase AMP-activated non-catalytic subunit gamma 2 | Meget ofte (80–99 %) | I 2 tilstande |
| SCO2synthesis of cytochrome C oxidase 2 | Meget ofte (80–99 %) | I 1 tilstand |
| SLC2A10solute carrier family 2 member 10 | Meget ofte (80–99 %) | I 1 tilstand |
| TNNC1troponin C1, slow skeletal and cardiac type | Meget ofte (80–99 %) | I 2 tilstande |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Meget ofte (80–99 %) | I 2 tilstande |
| AARS2alanyl-tRNA synthetase 2, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
Vis 230 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| ACAD9acyl-CoA dehydrogenase family member 9 | Ofte (30–79 %) | I 2 tilstande |
| ACTC1actin alpha cardiac muscle 1 | Ofte (30–79 %) | I 4 tilstande |
| ACTN2actinin alpha 2 | Ofte (30–79 %) | I 2 tilstande |
| ANKRD1ankyrin repeat domain 1 | Ofte (30–79 %) | I 1 tilstand |
| ATP5F1AATP synthase F1 subunit alpha | Ofte (30–79 %) | I 1 tilstand |
| ATP6V1AATPase H+ transporting V1 subunit A | Ofte (30–79 %) | I 1 tilstand |
| ATXN7ataxin 7 | Ofte (30–79 %) | I 1 tilstand |
| BAG3BAG cochaperone 3 | Ofte (30–79 %) | I 2 tilstande |
| CAP2cyclase associated actin cytoskeleton regulatory protein 2 | Ofte (30–79 %) | I 1 tilstand |
| CLIC2CLIC family member 2 | Ofte (30–79 %) | I 1 tilstand |
| COG7component of oligomeric golgi complex 7 | Ofte (30–79 %) | I 1 tilstand |
| COX16cytochrome c oxidase assembly factor COX16 | Ofte (30–79 %) | I 1 tilstand |
| CRYABcrystallin alpha B | Ofte (30–79 %) | I 1 tilstand |
| DESdesmin | Ofte (30–79 %) | I 3 tilstande |
| DMDdystrophin | Ofte (30–79 %) | I 3 tilstande |
| DOLKdolichol kinase | Ofte (30–79 %) | I 2 tilstande |
| DSPdesmoplakin | Ofte (30–79 %) | I 4 tilstande |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Ofte (30–79 %) | I 1 tilstand |
| ELAC2elaC ribonuclease Z 2 | Ofte (30–79 %) | I 1 tilstand |
| ELNelastin | Ofte (30–79 %) | I 3 tilstande |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Ofte (30–79 %) | I 1 tilstand |
| FBLN5fibulin 5 | Ofte (30–79 %) | I 2 tilstande |
| FGFR3fibroblast growth factor receptor 3 | Ofte (30–79 %) | I 1 tilstand |
| FHL2four and a half LIM domains 2 | Ofte (30–79 %) | I 1 tilstand |
| FKTNfukutin | Ofte (30–79 %) | I 1 tilstand |
| FLIIFLII actin remodeling protein | Ofte (30–79 %) | I 1 tilstand |
| FLNCfilamin C | Ofte (30–79 %) | I 2 tilstande |
| GET3guided entry of tail-anchored proteins factor 3, ATPase | Ofte (30–79 %) | I 1 tilstand |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Ofte (30–79 %) | I 2 tilstande |
| HADHBhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | Ofte (30–79 %) | I 1 tilstand |
| HAND2heart and neural crest derivatives expressed 2 | Ofte (30–79 %) | I 1 tilstand |
| IL6STinterleukin 6 cytokine family signal transducer | Ofte (30–79 %) | I 1 tilstand |
| JPH2junctophilin 2 | Ofte (30–79 %) | I 1 tilstand |
| JUPjunction plakoglobin | Ofte (30–79 %) | I 2 tilstande |
| KCNJ5potassium inwardly rectifying channel subfamily J member 5 | Ofte (30–79 %) | I 1 tilstand |
| LAMA4laminin subunit alpha 4 | Ofte (30–79 %) | I 1 tilstand |
| LMOD2leiomodin 2 | Ofte (30–79 %) | I 1 tilstand |
| LTBP1latent transforming growth factor beta binding protein 1 | Ofte (30–79 %) | I 1 tilstand |
| LYZlysozyme | Ofte (30–79 %) | I 1 tilstand |
| MECP2methyl-CpG binding protein 2 | Ofte (30–79 %) | I 1 tilstand |
| MRPL39mitochondrial ribosomal protein L39 | Ofte (30–79 %) | I 1 tilstand |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Ofte (30–79 %) | I 2 tilstande |
| MYH7myosin heavy chain 7 | Ofte (30–79 %) | I 6 tilstande |
| MYPNmyopalladin | Ofte (30–79 %) | I 2 tilstande |
| MYSM1Myb like, SWIRM and MPN domains 1 | Ofte (30–79 %) | I 1 tilstand |
| NEXNnexilin F-actin binding protein | Ofte (30–79 %) | I 2 tilstande |
| NKX2-5NK2 homeobox 5 | Ofte (30–79 %) | I 2 tilstande |
| PLNphospholamban | Ofte (30–79 %) | I 2 tilstande |
| PPCSphosphopantothenoylcysteine synthetase | Ofte (30–79 %) | I 1 tilstand |
| PRDM16PR/SET domain 16 | Ofte (30–79 %) | I 2 tilstande |
| PSEN1presenilin 1 | Ofte (30–79 %) | I 2 tilstande |
| PSEN2presenilin 2 | Ofte (30–79 %) | I 2 tilstande |
| RBCK1RANBP2-type and C3HC4-type zinc finger containing 1 | Ofte (30–79 %) | I 1 tilstand |
| RBM20RNA binding motif protein 20 | Ofte (30–79 %) | I 1 tilstand |
| RPL3Lribosomal protein L3 like | Ofte (30–79 %) | I 1 tilstand |
| RRAGDRas related GTP binding D | Ofte (30–79 %) | I 1 tilstand |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| SCN5Asodium voltage-gated channel alpha subunit 5 | Ofte (30–79 %) | I 3 tilstande |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Ofte (30–79 %) | I 4 tilstande |
| TAB2TGF-beta activated kinase 1 (MAP3K7) binding protein 2 | Ofte (30–79 %) | I 1 tilstand |
| TAF1ATATA-box binding protein associated factor, RNA polymerase I subunit A | Ofte (30–79 %) | I 1 tilstand |
| TAFAZZINtafazzin, phospholipid-lysophospholipid transacylase | Ofte (30–79 %) | I 2 tilstande |
| TCAPtitin-cap | Ofte (30–79 %) | I 1 tilstand |
| TFAMtranscription factor A, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| TMEM70transmembrane protein 70 | Ofte (30–79 %) | I 1 tilstand |
| TMPOthymopoietin | Ofte (30–79 %) | I 1 tilstand |
| TNNT2troponin T2, cardiac type | Ofte (30–79 %) | I 2 tilstande |
| TPM1tropomyosin 1 | Ofte (30–79 %) | I 2 tilstande |
| TRPM4transient receptor potential cation channel subfamily M member 4 | Ofte (30–79 %) | I 1 tilstand |
| TTNtitin | Ofte (30–79 %) | I 4 tilstande |
| TXNRD2thioredoxin reductase 2 | Ofte (30–79 %) | I 1 tilstand |
| VEZF1vascular endothelial zinc finger 1 | Ofte (30–79 %) | I 2 tilstande |
| WRNWRN RecQ like helicase | Ofte (30–79 %) | I 1 tilstand |
| ACVRL1activin A receptor like type 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ADCY5adenylate cyclase 5 | Nogle gange (5–29 %) | I 2 tilstande |
| AFF4ALF transcription elongation factor 4 | Nogle gange (5–29 %) | I 1 tilstand |
| AGGF1angiogenic factor with G-patch and FHA domains 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Nogle gange (5–29 %) | I 1 tilstand |
| ALMS1ALMS1 centrosome and basal body associated protein | Nogle gange (5–29 %) | I 2 tilstande |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Nogle gange (5–29 %) | I 1 tilstand |
| BMP6bone morphogenetic protein 6 | Nogle gange (5–29 %) | I 1 tilstand |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Nogle gange (5–29 %) | I 1 tilstand |
| CASRcalcium sensing receptor | Nogle gange (5–29 %) | I 1 tilstand |
| CAV1caveolin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CCN2cellular communication network factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| CCR6C-C motif chemokine receptor 6 | Nogle gange (5–29 %) | I 1 tilstand |
| CDH23cadherin related 23 | Nogle gange (5–29 %) | I 1 tilstand |
| CHD6chromodomain helicase DNA binding protein 6 | Nogle gange (5–29 %) | I 1 tilstand |
| CITED2Cbp/p300 interacting transactivator with ED-rich tail 2 | Nogle gange (5–29 %) | I 2 tilstande |
| CLIP2CAP-Gly domain containing linker protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| CLPBClpB family mitochondrial disaggregase | Nogle gange (5–29 %) | I 1 tilstand |
| CPceruloplasmin | Nogle gange (5–29 %) | I 1 tilstand |
| DLSTdihydrolipoamide S-succinyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Nogle gange (5–29 %) | I 1 tilstand |
| DNMT3ADNA methyltransferase 3 alpha | Nogle gange (5–29 %) | I 1 tilstand |
| DOHHdeoxyhypusine hydroxylase | Nogle gange (5–29 %) | I 1 tilstand |
| DSTdystonin | Nogle gange (5–29 %) | I 1 tilstand |
| EIF4Heukaryotic translation initiation factor 4H | Nogle gange (5–29 %) | I 1 tilstand |
| ENGendoglin | Nogle gange (5–29 %) | I 1 tilstand |
| EPAS1endothelial PAS domain protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Nogle gange (5–29 %) | I 1 tilstand |
| FHfumarate hydratase | Nogle gange (5–29 %) | I 1 tilstand |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Nogle gange (5–29 %) | I 1 tilstand |
| GATA4GATA binding protein 4 | Nogle gange (5–29 %) | I 1 tilstand |
| GATA6GATA binding protein 6 | Nogle gange (5–29 %) | I 1 tilstand |
| GDF2growth differentiation factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GNA11G protein subunit alpha 11 | Nogle gange (5–29 %) | I 1 tilstand |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Nogle gange (5–29 %) | I 2 tilstande |
| GPR35G protein-coupled receptor 35 | Nogle gange (5–29 %) | I 1 tilstand |
| GTF2Igeneral transcription factor IIi | Nogle gange (5–29 %) | I 1 tilstand |
| GTF2IRD1GTF2I repeat domain containing 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GTF2IRD2GTF2I repeat domain containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GTPBP3GTP binding protein 3, mitochondrial | Nogle gange (5–29 %) | I 2 tilstande |
| HFEhomeostatic iron regulator | Nogle gange (5–29 %) | I 2 tilstande |
| HLA-Bmajor histocompatibility complex, class I, B | Nogle gange (5–29 %) | I 1 tilstand |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Nogle gange (5–29 %) | I 1 tilstand |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Nogle gange (5–29 %) | I 1 tilstand |
| HNRNPA2B1heterogeneous nuclear ribonucleoprotein A2/B1 | Nogle gange (5–29 %) | I 1 tilstand |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Nogle gange (5–29 %) | I 1 tilstand |
| IL12Binterleukin 12B | Nogle gange (5–29 %) | I 1 tilstand |
| IRF5interferon regulatory factor 5 | Nogle gange (5–29 %) | I 1 tilstand |
| KCTD1potassium channel tetramerization domain containing 1 | Nogle gange (5–29 %) | I 1 tilstand |
| KIF1Bkinesin family member 1B | Nogle gange (5–29 %) | I 2 tilstande |
| LIMK1LIM domain kinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| LRPPRCleucine rich pentatricopeptide repeat containing | Nogle gange (5–29 %) | I 1 tilstand |
| MAPRE2microtubule associated protein RP/EB family member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MAXMYC associated transcriptional regulator X | Nogle gange (5–29 %) | I 2 tilstande |
| MDH2malate dehydrogenase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| METTL27methyltransferase like 27 | Nogle gange (5–29 %) | I 1 tilstand |
| MLXMAX dimerization protein MLX | Nogle gange (5–29 %) | I 1 tilstand |
| MST1macrophage stimulating 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-CYBmitochondrially encoded cytochrome b | Nogle gange (5–29 %) | I 2 tilstande |
| MYD88MYD88 innate immune signal transduction adaptor | Nogle gange (5–29 %) | I 1 tilstand |
| MYL3myosin light chain 3 | Nogle gange (5–29 %) | I 1 tilstand |
| NAXDNAD(P)HX dehydratase | Nogle gange (5–29 %) | I 1 tilstand |
| NCF1neutrophil cytosolic factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NF1neurofibromin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NPPAnatriuretic peptide A | Nogle gange (5–29 %) | I 1 tilstand |
| PDE11Aphosphodiesterase 11A | Nogle gange (5–29 %) | I 1 tilstand |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Nogle gange (5–29 %) | I 1 tilstand |
| PNPLA2patatin like domain 2, triacylglycerol lipase | Nogle gange (5–29 %) | I 1 tilstand |
| PPARGperoxisome proliferator activated receptor gamma | Nogle gange (5–29 %) | I 1 tilstand |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Nogle gange (5–29 %) | I 3 tilstande |
| PTENphosphatase and tensin homolog | Nogle gange (5–29 %) | I 1 tilstand |
| RETret proto-oncogene | Nogle gange (5–29 %) | I 3 tilstande |
| RFC2replication factor C subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Nogle gange (5–29 %) | I 1 tilstand |
| SDHAF2succinate dehydrogenase complex assembly factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Nogle gange (5–29 %) | I 2 tilstande |
| SDHCsuccinate dehydrogenase complex subunit C | Nogle gange (5–29 %) | I 1 tilstand |
| SDHDsuccinate dehydrogenase complex subunit D | Nogle gange (5–29 %) | I 2 tilstande |
| SELENONselenoprotein N | Nogle gange (5–29 %) | I 1 tilstand |
| SEMA4Dsemaphorin 4D | Nogle gange (5–29 %) | I 1 tilstand |
| SLC19A2solute carrier family 19 member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC25A11solute carrier family 25 member 11 | Nogle gange (5–29 %) | I 1 tilstand |
| SMAD4SMAD family member 4 | Nogle gange (5–29 %) | I 1 tilstand |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SNAP29synaptosome associated protein 29 | Nogle gange (5–29 %) | I 1 tilstand |
| STAT1signal transducer and activator of transcription 1 | Nogle gange (5–29 %) | I 1 tilstand |
| STRADASTE20 related adaptor alpha | Nogle gange (5–29 %) | I 1 tilstand |
| STX1Asyntaxin 1A | Nogle gange (5–29 %) | I 1 tilstand |
| TBL2transducin beta like 2 | Nogle gange (5–29 %) | I 1 tilstand |
| TBX20T-box transcription factor 20 | Nogle gange (5–29 %) | I 1 tilstand |
| TCF4transcription factor 4 | Nogle gange (5–29 %) | I 1 tilstand |
| TLL1tolloid like 1 | Nogle gange (5–29 %) | I 2 tilstande |
| TMEM127transmembrane protein 127 | Nogle gange (5–29 %) | I 2 tilstande |
| TMEM270transmembrane protein 270 | Nogle gange (5–29 %) | I 1 tilstand |
| TNNI3KTNNI3 interacting kinase | Nogle gange (5–29 %) | I 1 tilstand |
| TRIP4thyroid hormone receptor interactor 4 | Nogle gange (5–29 %) | I 1 tilstand |
| TTRtransthyretin | Nogle gange (5–29 %) | I 1 tilstand |
| TUBBtubulin beta class I | Nogle gange (5–29 %) | I 1 tilstand |
| VCPvalosin containing protein | Nogle gange (5–29 %) | I 1 tilstand |
| VHLvon Hippel-Lindau tumor suppressor | Nogle gange (5–29 %) | I 3 tilstande |
| VPS37DVPS37D subunit of ESCRT-I | Nogle gange (5–29 %) | I 1 tilstand |
| AP1S3adaptor related protein complex 1 subunit sigma 3 | Sjældent (1–4%) | I 1 tilstand |
| BCHEbutyrylcholinesterase | Sjældent (1–4%) | I 1 tilstand |
| IL36RNinterleukin 36 receptor antagonist | Sjældent (1–4%) | I 1 tilstand |
| MTTPmicrosomal triglyceride transfer protein | Sjældent (1–4%) | I 1 tilstand |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Sjældent (1–4%) | I 2 tilstande |
| SF3B1splicing factor 3b subunit 1 | Sjældent (1–4%) | I 1 tilstand |
| SPTBN1spectrin beta, non-erythrocytic 1 | Sjældent (1–4%) | I 1 tilstand |
| TET2tet methylcytosine dioxygenase 2 | Sjældent (1–4%) | I 1 tilstand |
| XYLT1xylosyltransferase 1 | Sjældent (1–4%) | I 1 tilstand |
| XYLT2xylosyltransferase 2 | Sjældent (1–4%) | I 1 tilstand |
| ADAMTSL2ADAMTS like 2 | Ikke registreret | I 1 tilstand |
| BMP2bone morphogenetic protein 2 | Ikke registreret | I 1 tilstand |
| CAV3caveolin 3 | Ikke registreret | I 1 tilstand |
| CEP19centrosomal protein 19 | Ikke registreret | I 1 tilstand |
| COL1A1collagen type I alpha 1 chain | Ikke registreret | I 1 tilstand |
| COL1A2collagen type I alpha 2 chain | Ikke registreret | I 1 tilstand |
| DNAJC19DnaJ heat shock protein family (Hsp40) member C19 | Ikke registreret | I 1 tilstand |
| DTNAdystrobrevin alpha | Ikke registreret | I 1 tilstand |
| EPG5ectopic P-granules 5 autophagy tethering factor | Ikke registreret | I 1 tilstand |
| FLNAfilamin A | Ikke registreret | I 1 tilstand |
| FXNfrataxin | Ikke registreret | I 2 tilstande |
| GLB1galactosidase beta 1 | Ikke registreret | I 1 tilstand |
| HAMPhepcidin antimicrobial peptide | Ikke registreret | I 1 tilstand |
| HJVhemojuvelin BMP co-receptor | Ikke registreret | I 1 tilstand |
| IDSiduronate 2-sulfatase | Ikke registreret | I 1 tilstand |
| IFIH1interferon induced with helicase C domain 1 | Ikke registreret | I 1 tilstand |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Ikke registreret | I 1 tilstand |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Ikke registreret | I 1 tilstand |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Ikke registreret | I 1 tilstand |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Ikke registreret | I 1 tilstand |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Ikke registreret | I 1 tilstand |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Ikke registreret | I 1 tilstand |
| MT-TCmitochondrially encoded tRNA-Cys (UGU/C) | Ikke registreret | I 1 tilstand |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Ikke registreret | I 1 tilstand |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Ikke registreret | I 1 tilstand |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Ikke registreret | I 1 tilstand |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Ikke registreret | I 1 tilstand |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Ikke registreret | I 1 tilstand |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Ikke registreret | I 1 tilstand |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Ikke registreret | I 1 tilstand |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Ikke registreret | I 1 tilstand |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Ikke registreret | I 1 tilstand |
| NSMCE2NSE2 SUMO ligase component of SMC5/6 complex | Ikke registreret | I 1 tilstand |
| PEX7peroxisomal biogenesis factor 7 | Ikke registreret | I 1 tilstand |
| PHYHphytanoyl-CoA 2-hydroxylase | Ikke registreret | I 1 tilstand |
| PPA2inorganic pyrophosphatase 2 | Ikke registreret | I 1 tilstand |
| PSMB8proteasome 20S subunit beta 8 | Ikke registreret | I 1 tilstand |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Ikke registreret | I 1 tilstand |
| RPS19ribosomal protein S19 | Ikke registreret | I 1 tilstand |
| SLC17A5solute carrier family 17 member 5 | Ikke registreret | I 1 tilstand |
| SLC22A5solute carrier family 22 member 5 | Ikke registreret | I 1 tilstand |
| SLC25A26solute carrier family 25 member 26 | Ikke registreret | I 1 tilstand |
| TFtransferrin | Ikke registreret | I 1 tilstand |
| TMEM43transmembrane protein 43 | Ikke registreret | I 1 tilstand |
| TPI1triosephosphate isomerase 1 | Ikke registreret | I 1 tilstand |
| TRIM37tripartite motif containing 37 | 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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Bredere træk
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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