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Trait
Disease of the heart muscle
Nom clinique : Cardiomyopathy
A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.
Résumé
- Système corporel
- Abnormality of the cardiovascular system
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Cette page en données
Ajoutez .json à l'adresse de la page, ou demandez application/json, pour la lire au format JSON.
library(jsonlite)
url <- "https://dantelabs.com/traits/cardiomyopathy.json"
page <- fromJSON(url)
page$trait$nameDisease of the heart muscleHP:0001638
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Découvrez les gènes liés à Disease of the heart muscle, ainsi que le reste de votre génome, grâce à un seul test.
À partir de 449 $Livraison gratuite · Résultats sous 6 à 8 semaines
Obtenir mon Genome Test126 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.
- Bardet-Biedl and Alström SyndromesReads 22 of these genesARL6BBIP1BBS1BBS10BBS12BBS2About this report →
- Zellweger Spectrum & Peroxisome Biogenesis DisordersReads 14 of these genesPEX7PEX1PEX10PEX11BPEX12PEX13About this report →
- Hereditary Pheochromocytoma and ParagangliomaReads 9 of these genesSDHAMAXRETSDHAF2SDHBSDHCAbout this report →
- Distal MyopathiesReads 11 of these genesANO5CRYABFLNCHNRNPA1HNRNPA2B1MYOTAbout this report →
Show 122 more reports
- Rare Hereditary Peripheral NeuropathiesReads 37 of these genesLMNAPEX7SDHAAPOA1COX10EMILIN1About this report →
- Inherited Neurodegenerative DisordersReads 42 of these genesDNM1LPEX7SDHAEMILIN1FIG4FXNAbout this report →
- Limb-Girdle Muscular DystrophyReads 12 of these genesLMNASGCAGMPPBANO5JAG2LAMA2About this report →
- HemochromatosisReads 5 of these genesHFEHJVTFR2HAMPSLC40A1About this report →
- Hereditary Optic NeuropathyReads 7 of these genesDNM1LMT-ND1MT-ND4MT-ND5MT-ND6ATP1A3About this report →
- Other Inherited LeukodystrophiesReads 16 of these genesPEX7AARS1PEX1PEX10PEX11BPEX12About this report →
- Congenital MyopathiesReads 8 of these genesMYPNACTA1KBTBD13KLHL41NEBTPM2About this report →
- Hypertrophic CardiomyopathyReads 13 of these genesTRIM63BRAFHADHAKRASMAP2K1MAP2K2About this report →
- Fatty Acid Oxidation & Carnitine Cycle DisordersReads 6 of these genesSLC25A20CPT2HADHAHADHBSLC22A5ACADSAbout this report →
- Hereditary Episodic AtaxiasReads 3 of these genesCACNA1ASCN2ASLC1A3About this report →
- Congenital Muscular DystrophiesReads 8 of these genesGMPPBTRIP4LAMA2POMT1FKRPPOMGNT1About this report →
- Urinary and Renal System TumourReads 5 of these genesSDHARETSDHAF2SDHBVHLAbout this report →
- Dilated CardiomyopathyReads 10 of these genesLMNASGCADMDMYPNFLNCSCN5AAbout this report →
- Malignant Endocrine NeoplasmReads 4 of these genesSDHARETSDHAF2SDHBAbout this report →
- Wolfram Syndrome & WFS1 SpectrumReads 2 of these genesCISD2WFS1About this report →
- Myofibrillar MyopathiesReads 5 of these genesCRYABFLNCMYOTLDB3TTNAbout this report →
- Glycogen Storage DiseaseReads 5 of these genesPHKA2PHKG2AGLGBE1GYS1About this report →
- Leigh SyndromeReads 10 of these genesSDHACOX10DLDMT-ATP6MT-ND1MT-ND4About this report →
- Lysosomal Storage DiseaseReads 9 of these genesGNPTABIDUAABHD5GLB1GUSBPNPLA2About this report →
- Familial Hemiplegic MigraineReads 2 of these genesATP1A2CACNA1AAbout this report →
- Primary Mitochondrial DiseaseReads 13 of these genesC1QBPCOX10POLGTK2TOP3AGUK1About this report →
- Frontotemporal DementiaReads 4 of these genesHNRNPA1HNRNPA2B1VCPSQSTM1About this report →
- Noonan SyndromeReads 5 of these genesBRAFKRASMAP2K1MAP2K2LZTR1About this report →
- Hereditary Gastrointestinal Stromal TumourReads 2 of these genesSDHBSDHCAbout this report →
- NeurofibromatosisReads 2 of these genesNF1LZTR1About this report →
- ADCY5-Related DyskinesiaReads 1 of these genesADCY5About this report →
- ATP1A2-Related Fetal Akinesia with PolymicrogyriaReads 1 of these genesATP1A2About this report →
- Brugada SyndromeReads 1 of these genesSCN5AAbout this report →
- CEP290-Related CiliopathyReads 1 of these genesCEP290About this report →
- Dystrophinopathies (Duchenne and Becker Muscular Dystrophy)Reads 1 of these genesDMDAbout this report →
- FLAD1-Related Lipid Storage MyopathyReads 1 of these genesFLAD1About 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 →
- KCNH1-Related DisorderReads 1 of these genesKCNH1About this report →
- Klippel-Feil Anomaly with Myopathy (MYO18B)Reads 1 of these genesMYO18BAbout this report →
- Mucopolysaccharidosis Type I (Hurler and Scheie Syndromes)Reads 1 of these genesIDUAAbout 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 →
- OPA1-Related Optic AtrophyReads 1 of these genesOPA1About this report →
- Polyglucosan Body Myopathy 1 (RBCK1)Reads 1 of these genesRBCK1About this report →
- Polyglucosan Body Myopathy 2 (GYG1)Reads 1 of these genesGYG1About this report →
- Simpson-Golabi-Behmel SyndromeReads 1 of these genesGPC3About this report →
- Vici SyndromeReads 1 of these genesEPG5About this report →
- Von Hippel-Lindau DiseaseReads 1 of these genesVHLAbout this report →
- Congenital Disorders of GlycosylationReads 9 of these genesALG1GMPPBPMM2POMT1ALG3FKRPAbout this report →
- Hereditary AmyloidosisReads 3 of these genesAPOA1TTRGSNAbout this report →
- Methylmalonic & Propionic AcidemiaReads 3 of these genesMMUTPCCAPCCBAbout this report →
- DNA Repair DiseaseReads 5 of these genesERCC2ERCC3GTF2H5ERCC6ERCC8About this report →
- Amyotrophic Lateral Sclerosis (ALS)Reads 4 of these genesFIG4HNRNPA1VCPSQSTM1About this report →
- Epilepsy (Full Panel)Reads 10 of these genesAARS1ITPAMDH2ATP1A2ATP1A3CACNA1AAbout this report →
- Hereditary Rickets (Hypophosphatemic and Vitamin D-Dependent)Reads 2 of these genesCYP27B1CYP2R1About this report →
- PolycythemiaReads 2 of these genesEPAS1VHLAbout this report →
- Progressive Cardiac Conduction Disease & Sick Sinus SyndromeReads 2 of these genesLMNASCN5AAbout this report →
- Encephalopathy due to Mitochondrial and Peroxisomal Fission DefectReads 1 of these genesDNM1LAbout this report →
- Familial Isolated Pituitary Adenoma (FIPA / X-LAG)Reads 1 of these genesAIPAbout this report →
- Myotonic DystrophyReads 1 of these genesCNBPAbout this report →
- Severe Inherited Insulin ResistanceReads 1 of these genesINSRAbout this report →
- Epidermolysis BullosaReads 3 of these genesJUPDSPDSTAbout this report →
- Charcot-Marie-Tooth DiseaseReads 6 of these genesLMNAEMILIN1FIG4AARS1VCPSCO2About this report →
- Retinitis PigmentosaReads 6 of these genesARL6BBS2CFAP418IFT172POMGNT1TTC8About this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 4 of these genesVAC14WARS2ATP1A3SLC2A1About this report →
- Imprinting Disorders: Prader-Willi, Silver-Russell and Beckwith-WiedemannReads 2 of these genesCDKN1CIGF2About this report →
- Kidney CancerReads 2 of these genesSDHBVHLAbout this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 5 of these genesFXNPEX6TWNKCEP290MKS1About this report →
- Long QT SyndromeReads 2 of these genesSCN5AKCNQ1About this report →
- Arrhythmogenic CardiomyopathyReads 2 of these genesJUPDSPAbout this report →
- HyperinsulinismReads 2 of these genesINSRPMM2About this report →
- LipodystrophyReads 2 of these genesLMNAAGPAT2About this report →
- Hirschsprung Disease & Related Enteric NeurocristopathiesReads 1 of these genesRETAbout this report →
- Immuno-Osseous DysplasiasReads 1 of these genesRMRPAbout this report →
- Mucolipidoses (ML II, ML III and ML IV)Reads 1 of these genesGNPTABAbout this report →
- Neuroacanthocytosis and Huntington Disease PhenocopiesReads 1 of these genesXKAbout this report →
- Cutis LaxaReads 2 of these genesLTBP4EMILIN1About this report →
- Familial Atrial FibrillationReads 1 of these genesKCNQ1About this report →
- Familial Paget Disease of BoneReads 1 of these genesSQSTM1About this report →
- Maple Syrup Urine DiseaseReads 1 of these genesDLDAbout this report →
- Overgrowth Syndromes (Sotos, Weaver, Tatton-Brown-Rahman, Malan)Reads 1 of these genesDNMT3AAbout this report →
- Short Qt SyndromeReads 1 of these genesKCNQ1About this report →
- Thiamine Transporter and Metabolism DisordersReads 1 of these genesSLC19A2About this report →
- Joubert Syndrome And Related DisordersReads 3 of these genesCEP290MKS1NPHP1About this report →
- Nephronophthisis and Senior-Løken SyndromeReads 2 of these genesNPHP1SDCCAG8About this report →
- Autoimmune DiseaseReads 2 of these genesKRASTREX1About this report →
- Hereditary Congenital & Juvenile CataractReads 2 of these genesCRYABWFS1About this report →
- Peroxisomal Enzyme Disorders & Refsum DiseaseReads 1 of these genesPHYHAbout this report →
- Syndromic and Metabolic CardiomyopathiesReads 1 of these genesPRKAG2About this report →
- Systemic Lupus ErythematosusReads 1 of these genesTREX1About this report →
- Intellectual DisabilityReads 6 of these genesMED12DDX3XRPS6KA3USP9XSCAPERSCN2AAbout this report →
- Microphthalmia, Anophthalmia & ColobomaReads 2 of these genesERCC2RAB3GAP2About this report →
- Alpha-Mannosidosis and Other GlycoproteinosesReads 1 of these genesNEU1About this report →
- Autoimmune Lymphoproliferative Syndrome (ALPS)Reads 1 of these genesKRASAbout this report →
- Classic Organic AciduriasReads 1 of these genesMLYCDAbout this report →
- Hereditary HypolipoproteinemiasReads 1 of these genesAPOA1About this report →
- Left Ventricular NoncompactionReads 1 of these genesLDB3About this report →
- Monogenic Obesity (Leptin-Melanocortin Pathway)Reads 1 of these genesCEP19About this report →
- Aicardi-Goutieres SyndromeReads 1 of these genesTREX1About this report →
- Hereditary Sideroblastic AnaemiasReads 1 of these genesTRNT1About this report →
- Osteogenesis ImperfectaReads 2 of these genesANO5NBASAbout this report →
- Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)Reads 2 of these genesATP1A3CACNA1AAbout this report →
- Complex Neurodevelopmental Disorder With Motor FeaturesReads 1 of these genesCACNA1AAbout this report →
- Pyruvate Dehydrogenase & Pyruvate Carboxylase DeficiencyReads 1 of these genesDLDAbout this report →
- Meckel SyndromeReads 1 of these genesMKS1About this report →
- Hermansky-Pudlak SyndromeReads 1 of these genesHPS1About this report →
- Severe Congenital NeutropeniaReads 1 of these genesCLPBAbout this report →
- Type I InterferonopathiesReads 1 of these genesTREX1About this report →
- Other Inborn Errors of ImmunityReads 4 of these genesRMRPKRASNBASTREX1About this report →
- Hereditary Corneal DystrophiesReads 1 of these genesGSNAbout this report →
- Homocystinuria & Cobalamin DisordersReads 1 of these genesAHCYAbout this report →
- Ehlers-Danlos SyndromeReads 1 of these genesTNXBAbout this report →
- Hereditary Sensory and Autonomic Neuropathies (incl. Familial Dysautonomia)Reads 1 of these genesDSTAbout this report →
- Leber Congenital Amaurosis & RPE65-Related RetinopathyReads 1 of these genesCEP290About this report →
- Lissencephaly Spectrum DisordersReads 1 of these genesRAB3GAP2About this report →
- Congenital Myasthenic SyndromeReads 1 of these genesGMPPBAbout this report →
- Spinal Muscular AtrophyReads 1 of these genesEMILIN1About this report →
- Diabetes MellitusReads 1 of these genesMT-TL1About this report →
- Thyroid CancerReads 1 of these genesRETAbout this report →
- Inherited ThrombocytopeniasReads 1 of these genesGNEAbout this report →
- Rare Monogenic Autoinflammatory DiseasesReads 1 of these genesTREX1About this report →
- Hereditary Palmoplantar Keratodermas and Pachyonychia CongenitaReads 1 of these genesDSPAbout this report →
- Hypogonadotropic HypogonadismReads 1 of these genesRAB3GAP2About this report →
- Female InfertilityReads 1 of these genesTWNKAbout this report →
- Hearing Loss and DeafnessReads 1 of these genesWFS1About this report →
Découvrez les gènes liés à Disease of the heart muscle, ainsi que le reste de votre génome, grâce à un seul test.
À partir de 449 $Livraison gratuite · Résultats sous 6 à 8 semaines
Obtenir mon Genome Test250 gènes associés à Disease of the heart muscle
Des modifications de ces gènes provoquent des affections rares dans lesquelles Disease of the heart muscle est observé. La plupart des personnes présentant ce trait n'ont aucune de ces affections, et un gène figurant sur cette liste ne dit rien du génome de quiconque.
| Gène | Fréquence d'observation | Affections |
|---|---|---|
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Toujours | Dans 2 affections |
| C1QBPcomplement C1q binding protein | Toujours | Dans 1 affection |
| DAND5DAN domain BMP antagonist family member 5 | Toujours | Dans 1 affection |
| DNM1Ldynamin 1L | Toujours | Dans 1 affection |
| GATCglutamyl-tRNA amidotransferase subunit C | Toujours | Dans 1 affection |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Toujours | Dans 2 affections |
| LMNAlamin A/C | Toujours | Dans 2 affections |
| NDUFB10NADH:ubiquinone oxidoreductase subunit B10 | Toujours | Dans 1 affection |
| PEX7peroxisomal biogenesis factor 7 | Toujours | Dans 3 affections |
| RFC4replication factor C subunit 4 | Toujours | Dans 1 affection |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Toujours | Dans 2 affections |
| SGCAsarcoglycan alpha | Toujours | Dans 1 affection |
| TRIM63tripartite motif containing 63 | Toujours | Dans 1 affection |
| DMDdystrophin | Très souvent (80–99 %) | Dans 3 affections |
| EPG5ectopic P-granules 5 autophagy tethering factor | Très souvent (80–99 %) | Dans 2 affections |
| IDUAalpha-L-iduronidase | Très souvent (80–99 %) | Dans 3 affections |
| JUPjunction plakoglobin | Très souvent (80–99 %) | Dans 2 affections |
| LTBP4latent transforming growth factor beta binding protein 4 | Très souvent (80–99 %) | Dans 1 affection |
| PHYHphytanoyl-CoA 2-hydroxylase | Très souvent (80–99 %) | Dans 2 affections |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Très souvent (80–99 %) | Dans 1 affection |
| SLC25A20solute carrier family 25 member 20 | Très souvent (80–99 %) | Dans 2 affections |
| ABHD5abhydrolase domain containing 5, lysophosphatidic acid acyltransferase | Souvent (30–79 %) | Dans 1 affection |
| ADCY5adenylate cyclase 5 | Souvent (30–79 %) | Dans 2 affections |
| APOA1apolipoprotein A1 | Souvent (30–79 %) | Dans 1 affection |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Souvent (30–79 %) | Dans 1 affection |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Souvent (30–79 %) | Dans 1 affection |
| CPT2carnitine palmitoyltransferase 2 | Souvent (30–79 %) | Dans 2 affections |
| CYP27B1cytochrome P450 family 27 subfamily B member 1 | Souvent (30–79 %) | Dans 1 affection |
| CYP2R1cytochrome P450 family 2 subfamily R member 1 | Souvent (30–79 %) | Dans 1 affection |
| EMILIN1elastin microfibril interfacer 1 | Souvent (30–79 %) | Dans 1 affection |
| FIG4FIG4 phosphoinositide 5-phosphatase | Souvent (30–79 %) | Dans 2 affections |
| FXNfrataxin | Souvent (30–79 %) | Dans 1 affection |
| GLB1galactosidase beta 1 | Souvent (30–79 %) | Dans 1 affection |
| GMPPBGDP-mannose pyrophosphorylase B | Souvent (30–79 %) | Dans 3 affections |
| GUSBglucuronidase beta | Souvent (30–79 %) | Dans 1 affection |
| GYG1glycogenin 1 | Souvent (30–79 %) | Dans 1 affection |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Souvent (30–79 %) | Dans 2 affections |
| HADHBhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | Souvent (30–79 %) | Dans 1 affection |
| KRASKRas proto-oncogene, GTPase | Souvent (30–79 %) | Dans 1 affection |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Souvent (30–79 %) | Dans 1 affection |
Afficher 210 gènes de plus
| Gène | Fréquence d'observation | Affections |
|---|---|---|
| MAP2K1mitogen-activated protein kinase kinase 1 | Souvent (30–79 %) | Dans 1 affection |
| MAP2K2mitogen-activated protein kinase kinase 2 | Souvent (30–79 %) | Dans 1 affection |
| MED12mediator complex subunit 12 | Souvent (30–79 %) | Dans 1 affection |
| MLYCDmalonyl-CoA decarboxylase | Souvent (30–79 %) | Dans 1 affection |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Souvent (30–79 %) | Dans 3 affections |
| MT-TTmitochondrially encoded tRNA-Thr (ACN) | Souvent (30–79 %) | Dans 1 affection |
| MYPNmyopalladin | Souvent (30–79 %) | Dans 2 affections |
| PNPLA2patatin like domain 2, triacylglycerol lipase | Souvent (30–79 %) | Dans 3 affections |
| POLGDNA polymerase gamma, catalytic subunit | Souvent (30–79 %) | Dans 2 affections |
| RBCK1RANBP2-type and C3HC4-type zinc finger containing 1 | Souvent (30–79 %) | Dans 1 affection |
| RRM1ribonucleotide reductase catalytic subunit M1 | Souvent (30–79 %) | Dans 1 affection |
| SLC22A5solute carrier family 22 member 5 | Souvent (30–79 %) | Dans 1 affection |
| TK2thymidine kinase 2 | Souvent (30–79 %) | Dans 1 affection |
| TOP3ADNA topoisomerase III alpha | Souvent (30–79 %) | Dans 1 affection |
| TRIP4thyroid hormone receptor interactor 4 | Souvent (30–79 %) | Dans 1 affection |
| TTRtransthyretin | Souvent (30–79 %) | Dans 2 affections |
| VAC14VAC14 component of PIKFYVE complex | Souvent (30–79 %) | Dans 1 affection |
| AARS1alanyl-tRNA synthetase 1 | Parfois (5–29 %) | Dans 1 affection |
| ACADSacyl-CoA dehydrogenase short chain | Parfois (5–29 %) | Dans 2 affections |
| ACTA1actin alpha 1, skeletal muscle | Parfois (5–29 %) | Dans 2 affections |
| AGPAT21-acylglycerol-3-phosphate O-acyltransferase 2 | Parfois (5–29 %) | Dans 1 affection |
| AHCYadenosylhomocysteinase | Parfois (5–29 %) | Dans 2 affections |
| ANO5anoctamin 5 | Parfois (5–29 %) | Dans 1 affection |
| BMP6bone morphogenetic protein 6 | Parfois (5–29 %) | Dans 1 affection |
| CARS1cysteinyl-tRNA synthetase 1 | Parfois (5–29 %) | Dans 1 affection |
| CCND1cyclin D1 | Parfois (5–29 %) | Dans 1 affection |
| CISD2CDGSH iron sulfur domain 2 | Parfois (5–29 %) | Dans 1 affection |
| CLPBClpB family mitochondrial disaggregase | Parfois (5–29 %) | Dans 1 affection |
| CNBPCCHC-type zinc finger nucleic acid binding protein | Parfois (5–29 %) | Dans 1 affection |
| CRYABcrystallin alpha B | Parfois (5–29 %) | Dans 1 affection |
| D2HGDHD-2-hydroxyglutarate dehydrogenase | Parfois (5–29 %) | Dans 2 affections |
| DBR1debranching RNA lariats 1 | Parfois (5–29 %) | Dans 1 affection |
| DDX3XDEAD-box helicase 3 X-linked | Parfois (5–29 %) | Dans 1 affection |
| DLDdihydrolipoamide dehydrogenase | Parfois (5–29 %) | Dans 1 affection |
| DLSTdihydrolipoamide S-succinyltransferase | Parfois (5–29 %) | Dans 1 affection |
| DNMT3ADNA methyltransferase 3 alpha | Parfois (5–29 %) | Dans 1 affection |
| DOT1LDOT1 like histone lysine methyltransferase | Parfois (5–29 %) | Dans 1 affection |
| DSPdesmoplakin | Parfois (5–29 %) | Dans 1 affection |
| DSTdystonin | Parfois (5–29 %) | Dans 1 affection |
| EPAS1endothelial PAS domain protein 1 | Parfois (5–29 %) | Dans 1 affection |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Parfois (5–29 %) | Dans 1 affection |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Parfois (5–29 %) | Dans 1 affection |
| FHfumarate hydratase | Parfois (5–29 %) | Dans 1 affection |
| FLAD1flavin adenine dinucleotide synthetase 1 | Parfois (5–29 %) | Dans 1 affection |
| FLNCfilamin C | Parfois (5–29 %) | Dans 3 affections |
| GPC3glypican 3 | Parfois (5–29 %) | Dans 2 affections |
| GPC4glypican 4 | Parfois (5–29 %) | Dans 1 affection |
| GSNgelsolin | Parfois (5–29 %) | Dans 2 affections |
| GTF2E2general transcription factor IIE subunit 2 | Parfois (5–29 %) | Dans 1 affection |
| GTF2H5general transcription factor IIH subunit 5 | Parfois (5–29 %) | Dans 1 affection |
| GUK1guanylate kinase 1 | Parfois (5–29 %) | Dans 1 affection |
| HFEhomeostatic iron regulator | Parfois (5–29 %) | Dans 2 affections |
| HJVhemojuvelin BMP co-receptor | Parfois (5–29 %) | Dans 1 affection |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Parfois (5–29 %) | Dans 2 affections |
| HNRNPA2B1heterogeneous nuclear ribonucleoprotein A2/B1 | Parfois (5–29 %) | Dans 1 affection |
| IDH2isocitrate dehydrogenase (NADP(+)) 2 | Parfois (5–29 %) | Dans 2 affections |
| INSRinsulin receptor | Parfois (5–29 %) | Dans 1 affection |
| ITPAinosine triphosphatase | Parfois (5–29 %) | Dans 1 affection |
| JAG2jagged canonical Notch ligand 2 | Parfois (5–29 %) | Dans 1 affection |
| KBTBD13kelch repeat and BTB domain containing 13 | Parfois (5–29 %) | Dans 1 affection |
| KIF1Bkinesin family member 1B | Parfois (5–29 %) | Dans 1 affection |
| KLHL41kelch like family member 41 | Parfois (5–29 %) | Dans 2 affections |
| LAMA2laminin subunit alpha 2 | Parfois (5–29 %) | Dans 1 affection |
| MAXMYC associated transcriptional regulator X | Parfois (5–29 %) | Dans 1 affection |
| MDH2malate dehydrogenase 2 | Parfois (5–29 %) | Dans 1 affection |
| MMUTmethylmalonyl-CoA mutase | Parfois (5–29 %) | Dans 2 affections |
| MPLKIPM-phase specific PLK1 interacting protein | Parfois (5–29 %) | Dans 1 affection |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Parfois (5–29 %) | Dans 1 affection |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Parfois (5–29 %) | Dans 1 affection |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Parfois (5–29 %) | Dans 1 affection |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Parfois (5–29 %) | Dans 1 affection |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Parfois (5–29 %) | Dans 1 affection |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Parfois (5–29 %) | Dans 1 affection |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Parfois (5–29 %) | Dans 1 affection |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Parfois (5–29 %) | Dans 1 affection |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Parfois (5–29 %) | Dans 1 affection |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Parfois (5–29 %) | Dans 1 affection |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Parfois (5–29 %) | Dans 1 affection |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Parfois (5–29 %) | Dans 1 affection |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Parfois (5–29 %) | Dans 1 affection |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Parfois (5–29 %) | Dans 1 affection |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Parfois (5–29 %) | Dans 1 affection |
| MYOTmyotilin | Parfois (5–29 %) | Dans 2 affections |
| NAXDNAD(P)HX dehydratase | Parfois (5–29 %) | Dans 1 affection |
| NBASNBAS subunit of NRZ tethering complex | Parfois (5–29 %) | Dans 1 affection |
| NEBnebulin | Parfois (5–29 %) | Dans 3 affections |
| NF1neurofibromin 1 | Parfois (5–29 %) | Dans 1 affection |
| NFU1NFU1 iron-sulfur cluster scaffold | Parfois (5–29 %) | Dans 1 affection |
| NPPAnatriuretic peptide A | Parfois (5–29 %) | Dans 2 affections |
| PCCApropionyl-CoA carboxylase subunit alpha | Parfois (5–29 %) | Dans 2 affections |
| PCCBpropionyl-CoA carboxylase subunit beta | Parfois (5–29 %) | Dans 2 affections |
| PEX1peroxisomal biogenesis factor 1 | Parfois (5–29 %) | Dans 1 affection |
| PEX10peroxisomal biogenesis factor 10 | Parfois (5–29 %) | Dans 1 affection |
| PEX11Bperoxisomal biogenesis factor 11 beta | Parfois (5–29 %) | Dans 1 affection |
| PEX12peroxisomal biogenesis factor 12 | Parfois (5–29 %) | Dans 1 affection |
| PEX13peroxisomal biogenesis factor 13 | Parfois (5–29 %) | Dans 1 affection |
| PEX14peroxisomal biogenesis factor 14 | Parfois (5–29 %) | Dans 1 affection |
| PEX16peroxisomal biogenesis factor 16 | Parfois (5–29 %) | Dans 1 affection |
| PEX19peroxisomal biogenesis factor 19 | Parfois (5–29 %) | Dans 1 affection |
| PEX2peroxisomal biogenesis factor 2 | Parfois (5–29 %) | Dans 1 affection |
| PEX26peroxisomal biogenesis factor 26 | Parfois (5–29 %) | Dans 1 affection |
| PEX3peroxisomal biogenesis factor 3 | Parfois (5–29 %) | Dans 1 affection |
| PEX5peroxisomal biogenesis factor 5 | Parfois (5–29 %) | Dans 1 affection |
| PEX6peroxisomal biogenesis factor 6 | Parfois (5–29 %) | Dans 1 affection |
| PMM2phosphomannomutase 2 | Parfois (5–29 %) | Dans 1 affection |
| POMT1protein O-mannosyltransferase 1 | Parfois (5–29 %) | Dans 4 affections |
| RETret proto-oncogene | Parfois (5–29 %) | Dans 2 affections |
| RMND1required for meiotic nuclear division 1 homolog | Parfois (5–29 %) | Dans 1 affection |
| RNASEH1ribonuclease H1 | Parfois (5–29 %) | Dans 1 affection |
| RNF113Aring finger protein 113A | Parfois (5–29 %) | Dans 1 affection |
| RPS6KA3ribosomal protein S6 kinase A3 | Parfois (5–29 %) | Dans 1 affection |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Parfois (5–29 %) | Dans 2 affections |
| SCN5Asodium voltage-gated channel alpha subunit 5 | Parfois (5–29 %) | Dans 1 affection |
| SDHAF2succinate dehydrogenase complex assembly factor 2 | Parfois (5–29 %) | Dans 1 affection |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Parfois (5–29 %) | Dans 2 affections |
| SDHCsuccinate dehydrogenase complex subunit C | Parfois (5–29 %) | Dans 1 affection |
| SDHDsuccinate dehydrogenase complex subunit D | Parfois (5–29 %) | Dans 2 affections |
| SGCBsarcoglycan beta | Parfois (5–29 %) | Dans 1 affection |
| SLC19A2solute carrier family 19 member 2 | Parfois (5–29 %) | Dans 1 affection |
| SLC25A11solute carrier family 25 member 11 | Parfois (5–29 %) | Dans 1 affection |
| TARS1threonyl-tRNA synthetase 1 | Parfois (5–29 %) | Dans 1 affection |
| TFR2transferrin receptor 2 | Parfois (5–29 %) | Dans 2 affections |
| TMEM127transmembrane protein 127 | Parfois (5–29 %) | Dans 1 affection |
| TPM2tropomyosin 2 | Parfois (5–29 %) | Dans 1 affection |
| TPM3tropomyosin 3 | Parfois (5–29 %) | Dans 2 affections |
| TREX1three prime repair exonuclease 1 | Parfois (5–29 %) | Dans 2 affections |
| TRNT1tRNA nucleotidyl transferase 1 | Parfois (5–29 %) | Dans 1 affection |
| TWNKtwinkle mtDNA helicase | Parfois (5–29 %) | Dans 1 affection |
| USP9Xubiquitin specific peptidase 9 X-linked | Parfois (5–29 %) | Dans 1 affection |
| VCPvalosin containing protein | Parfois (5–29 %) | Dans 2 affections |
| VHLvon Hippel-Lindau tumor suppressor | Parfois (5–29 %) | Dans 3 affections |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Parfois (5–29 %) | Dans 2 affections |
| WFS1wolframin ER transmembrane glycoprotein | Parfois (5–29 %) | Dans 2 affections |
| XKX-linked Kx blood group antigen, Kell and VPS13A binding protein | Parfois (5–29 %) | Dans 1 affection |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Rarement (1–4 %) | Dans 1 affection |
| ARL6ARF like GTPase 6 | Rarement (1–4 %) | Dans 1 affection |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Rarement (1–4 %) | Dans 1 affection |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Rarement (1–4 %) | Dans 1 affection |
| BBIP1BBSome interacting protein 1 | Rarement (1–4 %) | Dans 1 affection |
| BBS1Bardet-Biedl syndrome 1 | Rarement (1–4 %) | Dans 1 affection |
| BBS10Bardet-Biedl syndrome 10 | Rarement (1–4 %) | Dans 1 affection |
| BBS12Bardet-Biedl syndrome 12 | Rarement (1–4 %) | Dans 1 affection |
| BBS2Bardet-Biedl syndrome 2 | Rarement (1–4 %) | Dans 1 affection |
| BBS4Bardet-Biedl syndrome 4 | Rarement (1–4 %) | Dans 1 affection |
| BBS5Bardet-Biedl syndrome 5 | Rarement (1–4 %) | Dans 1 affection |
| BBS7Bardet-Biedl syndrome 7 | Rarement (1–4 %) | Dans 1 affection |
| BBS9Bardet-Biedl syndrome 9 | Rarement (1–4 %) | Dans 1 affection |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Rarement (1–4 %) | Dans 1 affection |
| CEP19centrosomal protein 19 | Rarement (1–4 %) | Dans 1 affection |
| CEP290centrosomal protein 290 | Rarement (1–4 %) | Dans 1 affection |
| CFAP418cilia and flagella associated protein 418 | Rarement (1–4 %) | Dans 1 affection |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Rarement (1–4 %) | Dans 1 affection |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Rarement (1–4 %) | Dans 1 affection |
| FKRPfukutin related protein | Rarement (1–4 %) | Dans 1 affection |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Rarement (1–4 %) | Dans 1 affection |
| IFT172intraflagellar transport 172 | Rarement (1–4 %) | Dans 1 affection |
| IFT27intraflagellar transport 27 | Rarement (1–4 %) | Dans 1 affection |
| IFT74intraflagellar transport 74 | Rarement (1–4 %) | Dans 1 affection |
| LDB3LIM domain binding 3 | Rarement (1–4 %) | Dans 2 affections |
| LZTFL1leucine zipper transcription factor like 1 | Rarement (1–4 %) | Dans 1 affection |
| MKKSMKKS centrosomal shuttling protein | Rarement (1–4 %) | Dans 1 affection |
| MKS1MKS transition zone complex subunit 1 | Rarement (1–4 %) | Dans 1 affection |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Rarement (1–4 %) | Dans 1 affection |
| NPHP1nephrocystin 1 | Rarement (1–4 %) | Dans 1 affection |
| OPA1OPA1 mitochondrial dynamin like GTPase | Rarement (1–4 %) | Dans 1 affection |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Rarement (1–4 %) | Dans 1 affection |
| PHKA2phosphorylase kinase regulatory subunit alpha 2 | Rarement (1–4 %) | Dans 1 affection |
| PHKG2phosphorylase kinase catalytic subunit gamma 2 | Rarement (1–4 %) | Dans 1 affection |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Rarement (1–4 %) | Dans 1 affection |
| POMKprotein O-mannose kinase | Rarement (1–4 %) | Dans 1 affection |
| POMT2protein O-mannosyltransferase 2 | Rarement (1–4 %) | Dans 1 affection |
| RHOBTB2Rho related BTB domain containing 2 | Rarement (1–4 %) | Dans 1 affection |
| SCAPERS-phase cyclin A associated protein in the ER | Rarement (1–4 %) | Dans 1 affection |
| SCLT1sodium channel and clathrin linker 1 | Rarement (1–4 %) | Dans 1 affection |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Rarement (1–4 %) | Dans 1 affection |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Rarement (1–4 %) | Dans 1 affection |
| SLC1A3solute carrier family 1 member 3 | Rarement (1–4 %) | Dans 1 affection |
| SLC2A1solute carrier family 2 member 1 | Rarement (1–4 %) | Dans 1 affection |
| TNXBtenascin XB | Rarement (1–4 %) | Dans 1 affection |
| TRIM32tripartite motif containing 32 | Rarement (1–4 %) | Dans 1 affection |
| TTC8tetratricopeptide repeat domain 8 | Rarement (1–4 %) | Dans 1 affection |
| WDPCPWD repeat containing planar cell polarity effector | Rarement (1–4 %) | Dans 1 affection |
| AGLamylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase | Non signalé | Dans 1 affection |
| AIPAHR interacting HSP90 co-chaperone | Non signalé | Dans 1 affection |
| ARSBarylsulfatase B | Non signalé | Dans 1 affection |
| BMP2bone morphogenetic protein 2 | Non signalé | Dans 1 affection |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Non signalé | Dans 1 affection |
| COX15cytochrome c oxidase assembly factor COX15 | Non signalé | Dans 1 affection |
| DCAF8DDB1 and CUL4 associated factor 8 | Non signalé | Dans 1 affection |
| FHL1four and a half LIM domains 1 | Non signalé | Dans 1 affection |
| GBE11,4-alpha-glucan branching enzyme 1 | Non signalé | Dans 1 affection |
| GYS1glycogen synthase 1 | Non signalé | Dans 1 affection |
| HAMPhepcidin antimicrobial peptide | Non signalé | Dans 1 affection |
| HPS1HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 | Non signalé | Dans 1 affection |
| IGF2insulin like growth factor 2 | Non signalé | Dans 1 affection |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Non signalé | Dans 1 affection |
| KCNQ1potassium voltage-gated channel subfamily Q member 1 | Non signalé | Dans 1 affection |
| KCNQ1OT1KCNQ1 opposite strand/antisense transcript 1 | Non signalé | Dans 1 affection |
| LZTR1leucine zipper like post translational regulator 1 | Non signalé | Dans 1 affection |
| MICU1mitochondrial calcium uptake 1 | Non signalé | Dans 1 affection |
| MYO18Bmyosin XVIIIB | Non signalé | Dans 1 affection |
| NEU1neuraminidase 1 | Non signalé | Dans 1 affection |
| PRKAG2protein kinase AMP-activated non-catalytic subunit gamma 2 | Non signalé | Dans 1 affection |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Non signalé | Dans 1 affection |
| SCO2synthesis of cytochrome C oxidase 2 | Non signalé | Dans 1 affection |
| SLC40A1solute carrier family 40 member 1 | Non signalé | Dans 1 affection |
| SQSTM1sequestosome 1 | Non signalé | Dans 1 affection |
| SYNE2spectrin repeat containing nuclear envelope protein 2 | Non signalé | Dans 1 affection |
| TIA1TIA1 cytotoxic granule associated RNA binding protein | Non signalé | Dans 1 affection |
| TTNtitin | Non signalé | Dans 1 affection |
Fréquence à laquelle le trait apparaît chez les personnes atteintes de l'une des affections liées à ce gène, telle que la Human Phenotype Ontology la consigne. Ces pages décrivent des traits et les recherches qui s'y rapportent ; elles ne constituent pas un diagnostic, et c'est un médecin ou un conseiller en génétique qu'il faut consulter au sujet des symptômes.
Traits plus précis
Traits plus généraux
D'où viennent ces informations
- La Human Phenotype Ontology, version 2026-09-01 : le trait, ses noms, sa définition et les gènes qui lui sont associés. En savoir plus sur hpo.jax.org.
- Version des données 2026.10.19-9814e911.
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