Merkmal
Cardiac failure
Klinische Bezeichnung: 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.
Zusammenfassung
- Auch genannt
- Cardiac failures, Heart failure, Cardiac insufficiency, CHF, Chronic heart failure
- Körpersystem
- Abnormality of the cardiovascular system
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Meinen Genome Test bestellen147 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.
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- 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 →
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- 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 →
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- 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 →
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- 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 →
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- Rare Monogenic Autoinflammatory DiseasesReads 3 of these genesIL36RNIFIH1PSMB8About this report →
- Hereditary Palmoplantar Keratodermas and Pachyonychia CongenitaReads 3 of these genesDSPTRPM4SNAP29About this report →
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- Overgrowth Syndromes (Sotos, Weaver, Tatton-Brown-Rahman, Malan)Reads 1 of these genesDNMT3AAbout this report →
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- Thiamine Transporter and Metabolism DisordersReads 1 of these genesSLC19A2About this report →
- TubulinopathiesReads 1 of these genesTUBBAbout this report →
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- 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 →
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- 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 →
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- 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 →
Lesen Sie die Gene aus, die mit Cardiac failure zusammenhängen, und den Rest Ihres Genoms, mit einem einzigen Test.
Ab 449 $Kostenloser Versand · Ergebnisse in 6–8 Wochen
Meinen Genome Test bestellen270 Gene mit Cardiac failure verknüpft
Veränderungen in diesen Genen verursachen seltene Erkrankungen, bei denen Cardiac failure auftritt. Die meisten Menschen mit diesem Merkmal haben keine dieser Erkrankungen, und ein Gen auf dieser Liste sagt nichts über das eigene Genom einer Person aus.
| Gen | Wie häufig es auftritt | Erkrankungen |
|---|---|---|
| ABCC6ATP binding cassette subfamily C member 6 | Immer | In 3 Erkrankungen |
| ABCC9ATP binding cassette subfamily C member 9 | Immer | In 2 Erkrankungen |
| AMOTL1angiomotin like 1 | Immer | In 1 Erkrankung |
| APOA1apolipoprotein A1 | Immer | In 1 Erkrankung |
| BAG5BAG cochaperone 5 | Immer | In 2 Erkrankungen |
| DAND5DAN domain BMP antagonist family member 5 | Immer | In 1 Erkrankung |
| DNM1Ldynamin 1L | Immer | In 1 Erkrankung |
| DSG2desmoglein 2 | Immer | In 2 Erkrankungen |
| FBN1fibrillin 1 | Immer | In 2 Erkrankungen |
| GATAD1GATA zinc finger domain containing 1 | Immer | In 2 Erkrankungen |
| LAMP2lysosome associated membrane protein 2 | Immer | In 1 Erkrankung |
| LDB3LIM domain binding 3 | Immer | In 3 Erkrankungen |
| MYBPC3myosin binding protein C3 | Immer | In 3 Erkrankungen |
| MYH6myosin heavy chain 6 | Immer | In 5 Erkrankungen |
| MYZAPmyocardial zonula adherens protein | Immer | In 1 Erkrankung |
| NDUFAF1NADH:ubiquinone oxidoreductase complex assembly factor 1 | Immer | In 1 Erkrankung |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Immer | In 1 Erkrankung |
| NRAPnebulin related anchoring protein | Immer | In 2 Erkrankungen |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Immer | In 2 Erkrankungen |
| RFC4replication factor C subunit 4 | Immer | In 1 Erkrankung |
| RRAGCRas related GTP binding C | Immer | In 1 Erkrankung |
| SCO1synthesis of cytochrome C oxidase 1 | Immer | In 1 Erkrankung |
| SGCAsarcoglycan alpha | Immer | In 1 Erkrankung |
| SGCDsarcoglycan delta | Immer | In 2 Erkrankungen |
| SOX17SRY-box transcription factor 17 | Immer | In 1 Erkrankung |
| TNNI3troponin I3, cardiac type | Immer | In 3 Erkrankungen |
| TRIM63tripartite motif containing 63 | Immer | In 1 Erkrankung |
| VCLvinculin | Immer | In 2 Erkrankungen |
| CSRP3cysteine and glycine rich protein 3 | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| EYA4EYA transcriptional coactivator and phosphatase 4 | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| GLAgalactosidase alpha | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| HBA1hemoglobin subunit alpha 1 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| HBA2hemoglobin subunit alpha 2 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| LMNAlamin A/C | Sehr häufig (80–99 %) | In 10 Erkrankungen |
| PRKAG2protein kinase AMP-activated non-catalytic subunit gamma 2 | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| SCO2synthesis of cytochrome C oxidase 2 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| SLC2A10solute carrier family 2 member 10 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| TNNC1troponin C1, slow skeletal and cardiac type | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| AARS2alanyl-tRNA synthetase 2, mitochondrial | Häufig (30–79 %) | In 1 Erkrankung |
230 weitere Gene anzeigen
| Gen | Wie häufig es auftritt | Erkrankungen |
|---|---|---|
| ACAD9acyl-CoA dehydrogenase family member 9 | Häufig (30–79 %) | In 2 Erkrankungen |
| ACTC1actin alpha cardiac muscle 1 | Häufig (30–79 %) | In 4 Erkrankungen |
| ACTN2actinin alpha 2 | Häufig (30–79 %) | In 2 Erkrankungen |
| ANKRD1ankyrin repeat domain 1 | Häufig (30–79 %) | In 1 Erkrankung |
| ATP5F1AATP synthase F1 subunit alpha | Häufig (30–79 %) | In 1 Erkrankung |
| ATP6V1AATPase H+ transporting V1 subunit A | Häufig (30–79 %) | In 1 Erkrankung |
| ATXN7ataxin 7 | Häufig (30–79 %) | In 1 Erkrankung |
| BAG3BAG cochaperone 3 | Häufig (30–79 %) | In 2 Erkrankungen |
| CAP2cyclase associated actin cytoskeleton regulatory protein 2 | Häufig (30–79 %) | In 1 Erkrankung |
| CLIC2CLIC family member 2 | Häufig (30–79 %) | In 1 Erkrankung |
| COG7component of oligomeric golgi complex 7 | Häufig (30–79 %) | In 1 Erkrankung |
| COX16cytochrome c oxidase assembly factor COX16 | Häufig (30–79 %) | In 1 Erkrankung |
| CRYABcrystallin alpha B | Häufig (30–79 %) | In 1 Erkrankung |
| DESdesmin | Häufig (30–79 %) | In 3 Erkrankungen |
| DMDdystrophin | Häufig (30–79 %) | In 3 Erkrankungen |
| DOLKdolichol kinase | Häufig (30–79 %) | In 2 Erkrankungen |
| DSPdesmoplakin | Häufig (30–79 %) | In 4 Erkrankungen |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Häufig (30–79 %) | In 1 Erkrankung |
| ELAC2elaC ribonuclease Z 2 | Häufig (30–79 %) | In 1 Erkrankung |
| ELNelastin | Häufig (30–79 %) | In 3 Erkrankungen |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Häufig (30–79 %) | In 1 Erkrankung |
| FBLN5fibulin 5 | Häufig (30–79 %) | In 2 Erkrankungen |
| FGFR3fibroblast growth factor receptor 3 | Häufig (30–79 %) | In 1 Erkrankung |
| FHL2four and a half LIM domains 2 | Häufig (30–79 %) | In 1 Erkrankung |
| FKTNfukutin | Häufig (30–79 %) | In 1 Erkrankung |
| FLIIFLII actin remodeling protein | Häufig (30–79 %) | In 1 Erkrankung |
| FLNCfilamin C | Häufig (30–79 %) | In 2 Erkrankungen |
| GET3guided entry of tail-anchored proteins factor 3, ATPase | Häufig (30–79 %) | In 1 Erkrankung |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Häufig (30–79 %) | In 2 Erkrankungen |
| HADHBhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | Häufig (30–79 %) | In 1 Erkrankung |
| HAND2heart and neural crest derivatives expressed 2 | Häufig (30–79 %) | In 1 Erkrankung |
| IL6STinterleukin 6 cytokine family signal transducer | Häufig (30–79 %) | In 1 Erkrankung |
| JPH2junctophilin 2 | Häufig (30–79 %) | In 1 Erkrankung |
| JUPjunction plakoglobin | Häufig (30–79 %) | In 2 Erkrankungen |
| KCNJ5potassium inwardly rectifying channel subfamily J member 5 | Häufig (30–79 %) | In 1 Erkrankung |
| LAMA4laminin subunit alpha 4 | Häufig (30–79 %) | In 1 Erkrankung |
| LMOD2leiomodin 2 | Häufig (30–79 %) | In 1 Erkrankung |
| LTBP1latent transforming growth factor beta binding protein 1 | Häufig (30–79 %) | In 1 Erkrankung |
| LYZlysozyme | Häufig (30–79 %) | In 1 Erkrankung |
| MECP2methyl-CpG binding protein 2 | Häufig (30–79 %) | In 1 Erkrankung |
| MRPL39mitochondrial ribosomal protein L39 | Häufig (30–79 %) | In 1 Erkrankung |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Häufig (30–79 %) | In 2 Erkrankungen |
| MYH7myosin heavy chain 7 | Häufig (30–79 %) | In 6 Erkrankungen |
| MYPNmyopalladin | Häufig (30–79 %) | In 2 Erkrankungen |
| MYSM1Myb like, SWIRM and MPN domains 1 | Häufig (30–79 %) | In 1 Erkrankung |
| NEXNnexilin F-actin binding protein | Häufig (30–79 %) | In 2 Erkrankungen |
| NKX2-5NK2 homeobox 5 | Häufig (30–79 %) | In 2 Erkrankungen |
| PLNphospholamban | Häufig (30–79 %) | In 2 Erkrankungen |
| PPCSphosphopantothenoylcysteine synthetase | Häufig (30–79 %) | In 1 Erkrankung |
| PRDM16PR/SET domain 16 | Häufig (30–79 %) | In 2 Erkrankungen |
| PSEN1presenilin 1 | Häufig (30–79 %) | In 2 Erkrankungen |
| PSEN2presenilin 2 | Häufig (30–79 %) | In 2 Erkrankungen |
| RBCK1RANBP2-type and C3HC4-type zinc finger containing 1 | Häufig (30–79 %) | In 1 Erkrankung |
| RBM20RNA binding motif protein 20 | Häufig (30–79 %) | In 1 Erkrankung |
| RPL3Lribosomal protein L3 like | Häufig (30–79 %) | In 1 Erkrankung |
| RRAGDRas related GTP binding D | Häufig (30–79 %) | In 1 Erkrankung |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Häufig (30–79 %) | In 1 Erkrankung |
| SCN5Asodium voltage-gated channel alpha subunit 5 | Häufig (30–79 %) | In 3 Erkrankungen |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Häufig (30–79 %) | In 4 Erkrankungen |
| TAB2TGF-beta activated kinase 1 (MAP3K7) binding protein 2 | Häufig (30–79 %) | In 1 Erkrankung |
| TAF1ATATA-box binding protein associated factor, RNA polymerase I subunit A | Häufig (30–79 %) | In 1 Erkrankung |
| TAFAZZINtafazzin, phospholipid-lysophospholipid transacylase | Häufig (30–79 %) | In 2 Erkrankungen |
| TCAPtitin-cap | Häufig (30–79 %) | In 1 Erkrankung |
| TFAMtranscription factor A, mitochondrial | Häufig (30–79 %) | In 1 Erkrankung |
| TMEM70transmembrane protein 70 | Häufig (30–79 %) | In 1 Erkrankung |
| TMPOthymopoietin | Häufig (30–79 %) | In 1 Erkrankung |
| TNNT2troponin T2, cardiac type | Häufig (30–79 %) | In 2 Erkrankungen |
| TPM1tropomyosin 1 | Häufig (30–79 %) | In 2 Erkrankungen |
| TRPM4transient receptor potential cation channel subfamily M member 4 | Häufig (30–79 %) | In 1 Erkrankung |
| TTNtitin | Häufig (30–79 %) | In 4 Erkrankungen |
| TXNRD2thioredoxin reductase 2 | Häufig (30–79 %) | In 1 Erkrankung |
| VEZF1vascular endothelial zinc finger 1 | Häufig (30–79 %) | In 2 Erkrankungen |
| WRNWRN RecQ like helicase | Häufig (30–79 %) | In 1 Erkrankung |
| ACVRL1activin A receptor like type 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| ADCY5adenylate cyclase 5 | Manchmal (5–29 %) | In 2 Erkrankungen |
| AFF4ALF transcription elongation factor 4 | Manchmal (5–29 %) | In 1 Erkrankung |
| AGGF1angiogenic factor with G-patch and FHA domains 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Manchmal (5–29 %) | In 1 Erkrankung |
| ALMS1ALMS1 centrosome and basal body associated protein | Manchmal (5–29 %) | In 2 Erkrankungen |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Manchmal (5–29 %) | In 1 Erkrankung |
| BMP6bone morphogenetic protein 6 | Manchmal (5–29 %) | In 1 Erkrankung |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Manchmal (5–29 %) | In 1 Erkrankung |
| CASRcalcium sensing receptor | Manchmal (5–29 %) | In 1 Erkrankung |
| CAV1caveolin 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| CCN2cellular communication network factor 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| CCR6C-C motif chemokine receptor 6 | Manchmal (5–29 %) | In 1 Erkrankung |
| CDH23cadherin related 23 | Manchmal (5–29 %) | In 1 Erkrankung |
| CHD6chromodomain helicase DNA binding protein 6 | Manchmal (5–29 %) | In 1 Erkrankung |
| CITED2Cbp/p300 interacting transactivator with ED-rich tail 2 | Manchmal (5–29 %) | In 2 Erkrankungen |
| CLIP2CAP-Gly domain containing linker protein 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| CLPBClpB family mitochondrial disaggregase | Manchmal (5–29 %) | In 1 Erkrankung |
| CPceruloplasmin | Manchmal (5–29 %) | In 1 Erkrankung |
| DLSTdihydrolipoamide S-succinyltransferase | Manchmal (5–29 %) | In 1 Erkrankung |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Manchmal (5–29 %) | In 1 Erkrankung |
| DNMT3ADNA methyltransferase 3 alpha | Manchmal (5–29 %) | In 1 Erkrankung |
| DOHHdeoxyhypusine hydroxylase | Manchmal (5–29 %) | In 1 Erkrankung |
| DSTdystonin | Manchmal (5–29 %) | In 1 Erkrankung |
| EIF4Heukaryotic translation initiation factor 4H | Manchmal (5–29 %) | In 1 Erkrankung |
| ENGendoglin | Manchmal (5–29 %) | In 1 Erkrankung |
| EPAS1endothelial PAS domain protein 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| FHfumarate hydratase | Manchmal (5–29 %) | In 1 Erkrankung |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Manchmal (5–29 %) | In 1 Erkrankung |
| GATA4GATA binding protein 4 | Manchmal (5–29 %) | In 1 Erkrankung |
| GATA6GATA binding protein 6 | Manchmal (5–29 %) | In 1 Erkrankung |
| GDF2growth differentiation factor 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| GNA11G protein subunit alpha 11 | Manchmal (5–29 %) | In 1 Erkrankung |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Manchmal (5–29 %) | In 2 Erkrankungen |
| GPR35G protein-coupled receptor 35 | Manchmal (5–29 %) | In 1 Erkrankung |
| GTF2Igeneral transcription factor IIi | Manchmal (5–29 %) | In 1 Erkrankung |
| GTF2IRD1GTF2I repeat domain containing 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| GTF2IRD2GTF2I repeat domain containing 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| GTPBP3GTP binding protein 3, mitochondrial | Manchmal (5–29 %) | In 2 Erkrankungen |
| HFEhomeostatic iron regulator | Manchmal (5–29 %) | In 2 Erkrankungen |
| HLA-Bmajor histocompatibility complex, class I, B | Manchmal (5–29 %) | In 1 Erkrankung |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Manchmal (5–29 %) | In 1 Erkrankung |
| HNRNPA2B1heterogeneous nuclear ribonucleoprotein A2/B1 | Manchmal (5–29 %) | In 1 Erkrankung |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Manchmal (5–29 %) | In 1 Erkrankung |
| IL12Binterleukin 12B | Manchmal (5–29 %) | In 1 Erkrankung |
| IRF5interferon regulatory factor 5 | Manchmal (5–29 %) | In 1 Erkrankung |
| KCTD1potassium channel tetramerization domain containing 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| KIF1Bkinesin family member 1B | Manchmal (5–29 %) | In 2 Erkrankungen |
| LIMK1LIM domain kinase 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| LRPPRCleucine rich pentatricopeptide repeat containing | Manchmal (5–29 %) | In 1 Erkrankung |
| MAPRE2microtubule associated protein RP/EB family member 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| MAXMYC associated transcriptional regulator X | Manchmal (5–29 %) | In 2 Erkrankungen |
| MDH2malate dehydrogenase 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| METTL27methyltransferase like 27 | Manchmal (5–29 %) | In 1 Erkrankung |
| MLXMAX dimerization protein MLX | Manchmal (5–29 %) | In 1 Erkrankung |
| MST1macrophage stimulating 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| MT-CYBmitochondrially encoded cytochrome b | Manchmal (5–29 %) | In 2 Erkrankungen |
| MYD88MYD88 innate immune signal transduction adaptor | Manchmal (5–29 %) | In 1 Erkrankung |
| MYL3myosin light chain 3 | Manchmal (5–29 %) | In 1 Erkrankung |
| NAXDNAD(P)HX dehydratase | Manchmal (5–29 %) | In 1 Erkrankung |
| NCF1neutrophil cytosolic factor 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| NF1neurofibromin 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| NPPAnatriuretic peptide A | Manchmal (5–29 %) | In 1 Erkrankung |
| PDE11Aphosphodiesterase 11A | Manchmal (5–29 %) | In 1 Erkrankung |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Manchmal (5–29 %) | In 1 Erkrankung |
| PNPLA2patatin like domain 2, triacylglycerol lipase | Manchmal (5–29 %) | In 1 Erkrankung |
| PPARGperoxisome proliferator activated receptor gamma | Manchmal (5–29 %) | In 1 Erkrankung |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Manchmal (5–29 %) | In 3 Erkrankungen |
| PTENphosphatase and tensin homolog | Manchmal (5–29 %) | In 1 Erkrankung |
| RETret proto-oncogene | Manchmal (5–29 %) | In 3 Erkrankungen |
| RFC2replication factor C subunit 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Manchmal (5–29 %) | In 1 Erkrankung |
| SDHAF2succinate dehydrogenase complex assembly factor 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Manchmal (5–29 %) | In 2 Erkrankungen |
| SDHCsuccinate dehydrogenase complex subunit C | Manchmal (5–29 %) | In 1 Erkrankung |
| SDHDsuccinate dehydrogenase complex subunit D | Manchmal (5–29 %) | In 2 Erkrankungen |
| SELENONselenoprotein N | Manchmal (5–29 %) | In 1 Erkrankung |
| SEMA4Dsemaphorin 4D | Manchmal (5–29 %) | In 1 Erkrankung |
| SLC19A2solute carrier family 19 member 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| SLC25A11solute carrier family 25 member 11 | Manchmal (5–29 %) | In 1 Erkrankung |
| SMAD4SMAD family member 4 | Manchmal (5–29 %) | In 1 Erkrankung |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| SNAP29synaptosome associated protein 29 | Manchmal (5–29 %) | In 1 Erkrankung |
| STAT1signal transducer and activator of transcription 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| STRADASTE20 related adaptor alpha | Manchmal (5–29 %) | In 1 Erkrankung |
| STX1Asyntaxin 1A | Manchmal (5–29 %) | In 1 Erkrankung |
| TBL2transducin beta like 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| TBX20T-box transcription factor 20 | Manchmal (5–29 %) | In 1 Erkrankung |
| TCF4transcription factor 4 | Manchmal (5–29 %) | In 1 Erkrankung |
| TLL1tolloid like 1 | Manchmal (5–29 %) | In 2 Erkrankungen |
| TMEM127transmembrane protein 127 | Manchmal (5–29 %) | In 2 Erkrankungen |
| TMEM270transmembrane protein 270 | Manchmal (5–29 %) | In 1 Erkrankung |
| TNNI3KTNNI3 interacting kinase | Manchmal (5–29 %) | In 1 Erkrankung |
| TRIP4thyroid hormone receptor interactor 4 | Manchmal (5–29 %) | In 1 Erkrankung |
| TTRtransthyretin | Manchmal (5–29 %) | In 1 Erkrankung |
| TUBBtubulin beta class I | Manchmal (5–29 %) | In 1 Erkrankung |
| VCPvalosin containing protein | Manchmal (5–29 %) | In 1 Erkrankung |
| VHLvon Hippel-Lindau tumor suppressor | Manchmal (5–29 %) | In 3 Erkrankungen |
| VPS37DVPS37D subunit of ESCRT-I | Manchmal (5–29 %) | In 1 Erkrankung |
| AP1S3adaptor related protein complex 1 subunit sigma 3 | Selten (1–4 %) | In 1 Erkrankung |
| BCHEbutyrylcholinesterase | Selten (1–4 %) | In 1 Erkrankung |
| IL36RNinterleukin 36 receptor antagonist | Selten (1–4 %) | In 1 Erkrankung |
| MTTPmicrosomal triglyceride transfer protein | Selten (1–4 %) | In 1 Erkrankung |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Selten (1–4 %) | In 2 Erkrankungen |
| SF3B1splicing factor 3b subunit 1 | Selten (1–4 %) | In 1 Erkrankung |
| SPTBN1spectrin beta, non-erythrocytic 1 | Selten (1–4 %) | In 1 Erkrankung |
| TET2tet methylcytosine dioxygenase 2 | Selten (1–4 %) | In 1 Erkrankung |
| XYLT1xylosyltransferase 1 | Selten (1–4 %) | In 1 Erkrankung |
| XYLT2xylosyltransferase 2 | Selten (1–4 %) | In 1 Erkrankung |
| ADAMTSL2ADAMTS like 2 | Nicht erfasst | In 1 Erkrankung |
| BMP2bone morphogenetic protein 2 | Nicht erfasst | In 1 Erkrankung |
| CAV3caveolin 3 | Nicht erfasst | In 1 Erkrankung |
| CEP19centrosomal protein 19 | Nicht erfasst | In 1 Erkrankung |
| COL1A1collagen type I alpha 1 chain | Nicht erfasst | In 1 Erkrankung |
| COL1A2collagen type I alpha 2 chain | Nicht erfasst | In 1 Erkrankung |
| DNAJC19DnaJ heat shock protein family (Hsp40) member C19 | Nicht erfasst | In 1 Erkrankung |
| DTNAdystrobrevin alpha | Nicht erfasst | In 1 Erkrankung |
| EPG5ectopic P-granules 5 autophagy tethering factor | Nicht erfasst | In 1 Erkrankung |
| FLNAfilamin A | Nicht erfasst | In 1 Erkrankung |
| FXNfrataxin | Nicht erfasst | In 2 Erkrankungen |
| GLB1galactosidase beta 1 | Nicht erfasst | In 1 Erkrankung |
| HAMPhepcidin antimicrobial peptide | Nicht erfasst | In 1 Erkrankung |
| HJVhemojuvelin BMP co-receptor | Nicht erfasst | In 1 Erkrankung |
| IDSiduronate 2-sulfatase | Nicht erfasst | In 1 Erkrankung |
| IFIH1interferon induced with helicase C domain 1 | Nicht erfasst | In 1 Erkrankung |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Nicht erfasst | In 1 Erkrankung |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Nicht erfasst | In 1 Erkrankung |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Nicht erfasst | In 1 Erkrankung |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Nicht erfasst | In 1 Erkrankung |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Nicht erfasst | In 1 Erkrankung |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Nicht erfasst | In 1 Erkrankung |
| MT-TCmitochondrially encoded tRNA-Cys (UGU/C) | Nicht erfasst | In 1 Erkrankung |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Nicht erfasst | In 1 Erkrankung |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Nicht erfasst | In 1 Erkrankung |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Nicht erfasst | In 1 Erkrankung |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Nicht erfasst | In 1 Erkrankung |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Nicht erfasst | In 1 Erkrankung |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Nicht erfasst | In 1 Erkrankung |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Nicht erfasst | In 1 Erkrankung |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Nicht erfasst | In 1 Erkrankung |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Nicht erfasst | In 1 Erkrankung |
| NSMCE2NSE2 SUMO ligase component of SMC5/6 complex | Nicht erfasst | In 1 Erkrankung |
| PEX7peroxisomal biogenesis factor 7 | Nicht erfasst | In 1 Erkrankung |
| PHYHphytanoyl-CoA 2-hydroxylase | Nicht erfasst | In 1 Erkrankung |
| PPA2inorganic pyrophosphatase 2 | Nicht erfasst | In 1 Erkrankung |
| PSMB8proteasome 20S subunit beta 8 | Nicht erfasst | In 1 Erkrankung |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Nicht erfasst | In 1 Erkrankung |
| RPS19ribosomal protein S19 | Nicht erfasst | In 1 Erkrankung |
| SLC17A5solute carrier family 17 member 5 | Nicht erfasst | In 1 Erkrankung |
| SLC22A5solute carrier family 22 member 5 | Nicht erfasst | In 1 Erkrankung |
| SLC25A26solute carrier family 25 member 26 | Nicht erfasst | In 1 Erkrankung |
| TFtransferrin | Nicht erfasst | In 1 Erkrankung |
| TMEM43transmembrane protein 43 | Nicht erfasst | In 1 Erkrankung |
| TPI1triosephosphate isomerase 1 | Nicht erfasst | In 1 Erkrankung |
| TRIM37tripartite motif containing 37 | Nicht erfasst | In 1 Erkrankung |
Wie häufig dieses Merkmal bei Menschen mit einer der Erkrankungen auftritt, die mit dem Gen in Verbindung stehen, und zwar der höchste Wert unter ihnen, so wie ihn die Human Phenotype Ontology erfasst. Diese Seiten beschreiben Merkmale und die dazugehörige Forschung; sie stellen keine Diagnose dar. Fragen zu Symptomen richten Sie bitte an Ihre Ärztin, Ihren Arzt oder eine genetische Beratung.
Untergeordnete Merkmale
Übergeordnete Merkmale
Woher diese Angaben stammen
- Die Human Phenotype Ontology, Version 2026-09-01: das Merkmal, seine Bezeichnungen, seine Definition und die damit verknüpften Gene. Weitere Informationen finden Sie unter hpo.jax.org.
- Datenstand 2026.10.19-9814e911.
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