Træk
Recurrent infections
Increased susceptibility to infections as manifested by repeated bouts of infection.
Resumé
- Også kaldet
- Frequent infections, Frequent, severe infections, Increased frequency of infection, infections, recurrent, Predisposition to infections, Susceptibility to infection
- Kropssystem
- Abnormality of the immune 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/recurrent-infections.json"
page <- fromJSON(url)
page$trait$nameLæs de gener, der er knyttet til Recurrent infections, og resten af dit genom, med én test.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger
Bestil min Genome Test130 condition reports read genes linked to this trait
Dante Labs condition reports look at the genes behind groups of inherited conditions, read from one whole-genome test. Each page says which conditions and genes a report covers, how it is read and what it cannot tell you.
- Other Inborn Errors of ImmunityReads 68 of these genesBCL10CARD11DPP9GINS1IKBKBIL21RAbout this report →
- Coffin-Siris SyndromeReads 11 of these genesARID1AARID1BARID2DPF2SMARCA4SMARCB1About this report →
- Agammaglobulinaemia (XLA and Autosomal Forms)Reads 9 of these genesPIK3R1TCF3BLNKCD79ACD79BIGHMAbout this report →
- Inherited IchthyosesReads 9 of these genesABCA12ALOX12BALOXE3CYP4F22LIPNNIPAL4About this report →
Show 126 more reports
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- Severe Combined ImmunodeficiencyReads 10 of these genesCARD11IKBKBLATCD247CD3DCD3EAbout this report →
- Rhabdoid Tumour and SWI/SNF Tumour PredispositionReads 3 of these genesSMARCA4SMARCB1SMARCE1About this report →
- Familial Glucocorticoid DeficiencyReads 4 of these genesMC2RMRAPNNTTXNRD2About this report →
- Activated PI3K-Delta Syndrome (APDS)Reads 2 of these genesPIK3R1PIK3CDAbout this report →
- Cowden Syndrome (PTEN hamartoma tumour syndrome)Reads 2 of these genesAKT1PTENAbout this report →
- Kabuki SyndromeReads 2 of these genesKDM6AKMT2DAbout this report →
- Shwachman-Diamond SyndromeReads 2 of these genesEFL1SBDSAbout this report →
- STAT1 and STAT3 Gain-of-Function DiseaseReads 2 of these genesSTAT3STAT1About this report →
- Tubular Aggregate MyopathyReads 2 of these genesSTIM1ORAI1About this report →
- Congenital Disorders of GlycosylationReads 13 of these genesALG13ATP6AP2COG6ALG3COG7PGM3About this report →
- Common Variable Immunodeficiency (Monogenic CVID)Reads 4 of these genesLRBASEC61A1CR2NFKB1About this report →
- Chronic Granulomatous DiseaseReads 3 of these genesNCF2CYBC1NCF4About this report →
- Severe Congenital NeutropeniaReads 4 of these genesCSF3RVPS45CLPBSRP54About this report →
- EBV-Driven Lymphoproliferation and CARD11 Immune DysregulationReads 2 of these genesCARD11CD27About this report →
- Immuno-Osseous DysplasiasReads 2 of these genesRMRPSMARCAL1About this report →
- Leukocyte Adhesion DeficiencyReads 2 of these genesITGB2SLC35C1About this report →
- Hyper-IgE SyndromeReads 3 of these genesSPINK5STAT3ZNF341About this report →
- Autoimmune DiseaseReads 5 of these genesPRKCDSTAT3STAT1FOXP3C1QAAbout this report →
- Dyskeratosis CongenitaReads 5 of these genesCDCA7HELLSTERCTERTZBTB24About this report →
- Rare Monogenic Autoinflammatory DiseasesReads 6 of these genesSTING1ADA2ACP5POLA1SKIC2SKIC3About this report →
- Complex Neurodevelopmental Disorder (TRRAP, MYH10, RERE, SOX11)Reads 2 of these genesSOX11TRRAPAbout this report →
- 22q11.2 Deletion SyndromeReads 1 of these genesTBX1About this report →
- ARC Syndrome 1 (VPS33B)Reads 1 of these genesVPS33BAbout this report →
- ARC Syndrome 2 (VIPAS39)Reads 1 of these genesVIPAS39About this report →
- Bloom SyndromeReads 1 of these genesBLMAbout this report →
- CHAPLE Disease (CD55 Deficiency)Reads 1 of these genesCD55About this report →
- Chediak-Higashi syndromeReads 1 of these genesLYSTAbout this report →
- CTNNB1 SyndromeReads 1 of these genesCTNNB1About this report →
- Deficiency of Adenosine Deaminase 2 (DADA2)Reads 1 of these genesADA2About this report →
- DIAPH1-Related Microcephaly, Seizures and Cortical BlindnessReads 1 of these genesDIAPH1About this report →
- EBF3-Related Neurodevelopmental Disorder (HADDS)Reads 1 of these genesEBF3About this report →
- Familial Mediterranean FeverReads 1 of these genesMEFVAbout this report →
- Hereditary Folate MalabsorptionReads 1 of these genesSLC46A1About this report →
- IFAP Syndrome (MBTPS2)Reads 1 of these genesMBTPS2About this report →
- ITCH DeficiencyReads 1 of these genesITCHAbout this report →
- Kaufman Oculocerebrofacial SyndromeReads 1 of these genesUBE3BAbout this report →
- Krabbe DiseaseReads 1 of these genesGALCAbout this report →
- Mowat-Wilson SyndromeReads 1 of these genesZEB2About this report →
- MTHFD1 DeficiencyReads 1 of these genesMTHFD1About this report →
- OFD1-Related CiliopathyReads 1 of these genesOFD1About this report →
- PIK3R1-Related DisordersReads 1 of these genesPIK3R1About this report →
- Prolidase DeficiencyReads 1 of these genesPEPDAbout this report →
- Purine Nucleoside Phosphorylase DeficiencyReads 1 of these genesPNPAbout this report →
- Rett Syndrome and MECP2-Related DisordersReads 1 of these genesMECP2About this report →
- Sickle Cell DiseaseReads 1 of these genesHBBAbout this report →
- Smith-Lemli-Opitz SyndromeReads 1 of these genesDHCR7About this report →
- SPTBN1-Related Neurodevelopmental DisorderReads 1 of these genesSPTBN1About this report →
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- Vici SyndromeReads 1 of these genesEPG5About this report →
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- Type I InterferonopathiesReads 3 of these genesSTING1ACP5POLA1About this report →
- Hereditary Visceral Myopathy, CIPO & MMIHSReads 2 of these genesFLNAMYH11About this report →
- Systemic Lupus ErythematosusReads 2 of these genesPRKCDC1QAAbout this report →
- Glycogen Storage DiseaseReads 3 of these genesPHKA2PHKBPHKG2About this report →
- Spinal Muscular AtrophyReads 4 of these genesSEPSECSTSEN15TSEN2TSEN54About this report →
- Alpha-Mannosidosis and Other GlycoproteinosesReads 2 of these genesMAN2B1MANBAAbout this report →
- Inherited Predisposition to Acute Myeloid LeukaemiaReads 2 of these genesTERCTERTAbout this report →
- IPEX Syndrome and Other TregopathiesReads 2 of these genesLRBAFOXP3About this report →
- Hereditary FibromatosesReads 1 of these genesANTXR2About this report →
- Metachromatic LeukodystrophyReads 1 of these genesPSAPAbout this report →
- Severe Inherited Insulin ResistanceReads 1 of these genesINSRAbout this report →
- Wiskott-Aldrich Syndrome SpectrumReads 1 of these genesWIPF1About this report →
- Inherited ThrombocytopeniasReads 4 of these genesSTIM1CDC42DIAPH1ARPC1BAbout this report →
- Rare Hereditary Peripheral NeuropathiesReads 10 of these genesPRPS1LYSTAARS1FBXL4GALCLIG3About this report →
- Congenital Diaphragmatic Hernia (Monogenic)Reads 1 of these genesALDH1A2About this report →
- Rothmund-Thomson SyndromeReads 1 of these genesCRIPTAbout this report →
- X-Linked Lymphoproliferative Disease and XMENReads 1 of these genesXIAPAbout this report →
- Lysosomal Storage DiseaseReads 4 of these genesMAN2B1GALCPSAPMANBAAbout this report →
- Familial Hemophagocytic LymphohistiocytosisReads 1 of these genesPRF1About this report →
- Inherited Iron Metabolism DisordersReads 1 of these genesTFAbout this report →
- NeurofibromatosisReads 1 of these genesSMARCB1About this report →
- PorokeratosisReads 1 of these genesMVKAbout this report →
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- ThalassaemiaReads 1 of these genesHBBAbout this report →
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- Primary Mitochondrial DiseaseReads 5 of these genesGUK1MGME1TOP3AFBXL4LIG3About this report →
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- Rare Inherited Bone Marrow Failure SyndromesReads 1 of these genesDNAJC21About this report →
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- Colorectal Cancer & PolyposisReads 1 of these genesPOLEAbout this report →
- Congenital Adrenal HyperplasiaReads 1 of these genesSTARAbout this report →
- Leigh SyndromeReads 3 of these genesFBXL4PDHA1SERAC1About this report →
- PolycythemiaReads 1 of these genesHBBAbout this report →
- Purine & Pyrimidine Metabolism DisordersReads 1 of these genesPRPS1About this report →
- Hereditary Palmoplantar Keratodermas and Pachyonychia CongenitaReads 2 of these genesMBTPS2KRT14About this report →
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- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 2 of these genesKMT2BSLC2A1About this report →
- Complex Neurodevelopmental Disorder With Motor FeaturesReads 1 of these genesKMT2BAbout this report →
- Familial Pulmonary FibrosisReads 1 of these genesTERTAbout this report →
- Pyruvate Dehydrogenase & Pyruvate Carboxylase DeficiencyReads 1 of these genesPDHA1About this report →
- Long QT SyndromeReads 1 of these genesCACNA1CAbout this report →
- HyperinsulinismReads 1 of these genesINSRAbout this report →
- LipodystrophyReads 1 of these genesCAVIN1About this report →
- Aortic AneurysmReads 1 of these genesMYH11About this report →
- Inherited Congenital Heart DefectsReads 1 of these genesFLNAAbout this report →
- Diamond-Blackfan AnemiaReads 1 of these genesRPL11About this report →
- Methylmalonic & Propionic AcidemiaReads 1 of these genesLMBRD1About this report →
- Hypertrophic CardiomyopathyReads 2 of these genesNRASBRAFAbout this report →
- Ectodermal DysplasiasReads 1 of these genesKRT14About this report →
- Charcot-Marie-Tooth DiseaseReads 2 of these genesPRPS1AARS1About this report →
- Retinitis PigmentosaReads 2 of these genesOFD1ARL2BPAbout this report →
- Neonatal Diabetes MellitusReads 1 of these genesGLIS3About this report →
- Hearing Loss and DeafnessReads 2 of these genesPRPS1DIAPH1About this report →
- VitreoretinopathyReads 1 of these genesCTNNB1About this report →
- Microphthalmia, Anophthalmia & ColobomaReads 1 of these genesERCC2About this report →
- Nephrotic SyndromeReads 1 of these genesNPHS1About this report →
- Diabetes MellitusReads 1 of these genesGLIS3About this report →
- Osteogenesis ImperfectaReads 1 of these genesMBTPS2About this report →
- Joubert Syndrome And Related DisordersReads 1 of these genesOFD1About this report →
- Female InfertilityReads 1 of these genesSTARAbout this report →
Læs de gener, der er knyttet til Recurrent infections, og resten af dit genom, med én test.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger
Bestil min Genome Test282 gener knyttet til Recurrent infections
Ændringer i disse gener forårsager sjældne tilstande, hvor Recurrent infections 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 |
|---|---|---|
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Altid | I 1 tilstand |
| ATP6AP2ATPase H+ transporting accessory protein 2 | Altid | I 1 tilstand |
| BCL10BCL10 immune signaling adaptor | Altid | I 1 tilstand |
| CARD11caspase recruitment domain family member 11 | Altid | I 1 tilstand |
| CCT3chaperonin containing TCP1 subunit 3 | Altid | I 1 tilstand |
| CDCA7cell division cycle associated 7 | Altid | I 1 tilstand |
| COG6component of oligomeric golgi complex 6 | Altid | I 1 tilstand |
| COPZ1coat protein complex I subunit zeta 1 | Altid | I 1 tilstand |
| CSF3Rcolony stimulating factor 3 receptor | Altid | I 1 tilstand |
| DAND5DAN domain BMP antagonist family member 5 | Altid | I 1 tilstand |
| DEAF1DEAF1 transcription factor | Altid | I 2 tilstande |
| DPP9dipeptidyl peptidase 9 | Altid | I 1 tilstand |
| FLNAfilamin A | Altid | I 2 tilstande |
| GINS1GINS complex subunit 1 | Altid | I 1 tilstand |
| GON4Lgon-4 like | Altid | I 1 tilstand |
| GOT2glutamic-oxaloacetic transaminase 2 | Altid | I 1 tilstand |
| GTF2H5general transcription factor IIH subunit 5 | Altid | I 2 tilstande |
| IGKCimmunoglobulin kappa constant | Altid | I 2 tilstande |
| IKBKBinhibitor of nuclear factor kappa B kinase subunit beta | Altid | I 1 tilstand |
| IL21Rinterleukin 21 receptor | Altid | I 1 tilstand |
| ITGB2integrin subunit beta 2 | Altid | I 1 tilstand |
| ITKIL2 inducible T cell kinase | Altid | I 1 tilstand |
| LATlinker for activation of T cells | Altid | I 1 tilstand |
| LCP2lymphocyte cytosolic protein 2 | Altid | I 1 tilstand |
| LIFRLIF receptor subunit alpha | Altid | I 1 tilstand |
| LIG1DNA ligase 1 | Altid | I 1 tilstand |
| LRBALPS responsive beige-like anchor protein | Altid | I 1 tilstand |
| MVKmevalonate kinase | Altid | I 2 tilstande |
| MYH11myosin heavy chain 11 | Altid | I 1 tilstand |
| NCF2neutrophil cytosolic factor 2 | Altid | I 1 tilstand |
| NCKAP1LNCK associated protein 1 like | Altid | I 1 tilstand |
| OFD1OFD1 centriole and centriolar satellite protein | Altid | I 1 tilstand |
| PEPDpeptidase D | Altid | I 1 tilstand |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Altid | I 2 tilstande |
| PRIM1DNA primase subunit 1 | Altid | I 1 tilstand |
| PRKCDprotein kinase C delta | Altid | I 1 tilstand |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Altid | I 3 tilstande |
| PTCRApre T cell antigen receptor alpha | Altid | I 1 tilstand |
| RASGRP1RAS guanyl releasing protein 1 | Altid | I 1 tilstand |
| RBSNrabenosyn, RAB effector | Altid | I 1 tilstand |
Vis 242 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| RNF113Aring finger protein 113A | Altid | I 2 tilstande |
| RPL10ribosomal protein L10 | Altid | I 3 tilstande |
| SLC46A1solute carrier family 46 member 1 | Altid | I 1 tilstand |
| STIM1stromal interaction molecule 1 | Altid | I 1 tilstand |
| STING1stimulator of interferon response cGAMP interactor 1 | Altid | I 1 tilstand |
| TCF3transcription factor 3 | Altid | I 3 tilstande |
| TOP2BDNA topoisomerase II beta | Altid | I 1 tilstand |
| TRIOtrio Rho guanine nucleotide exchange factor | Altid | I 2 tilstande |
| VPS45vacuolar protein sorting 45 homolog | Altid | I 1 tilstand |
| WDR1WD repeat domain 1 | Altid | I 1 tilstand |
| WIPF1WAS/WASL interacting protein family member 1 | Altid | I 1 tilstand |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Meget ofte (80–99 %) | I 1 tilstand |
| BLNKB cell linker | Meget ofte (80–99 %) | I 1 tilstand |
| CD247CD247 molecule | Meget ofte (80–99 %) | I 1 tilstand |
| CD3DCD3 delta subunit of T-cell receptor complex | Meget ofte (80–99 %) | I 1 tilstand |
| CD3ECD3 epsilon subunit of T-cell receptor complex | Meget ofte (80–99 %) | I 1 tilstand |
| CD79ACD79a molecule | Meget ofte (80–99 %) | I 1 tilstand |
| CD79BCD79b molecule | Meget ofte (80–99 %) | I 1 tilstand |
| CLEC7AC-type lectin domain containing 7A | Meget ofte (80–99 %) | I 1 tilstand |
| COG7component of oligomeric golgi complex 7 | Meget ofte (80–99 %) | I 2 tilstande |
| EHMT1euchromatic histone lysine methyltransferase 1 | Meget ofte (80–99 %) | I 2 tilstande |
| EPG5ectopic P-granules 5 autophagy tethering factor | Meget ofte (80–99 %) | I 1 tilstand |
| FOXN1forkhead box N1 | Meget ofte (80–99 %) | I 1 tilstand |
| HBBhemoglobin subunit beta | Meget ofte (80–99 %) | I 1 tilstand |
| HLA-DQB1major histocompatibility complex, class II, DQ beta 1 | Meget ofte (80–99 %) | I 1 tilstand |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Meget ofte (80–99 %) | I 1 tilstand |
| IGHMimmunoglobulin heavy constant mu | Meget ofte (80–99 %) | I 1 tilstand |
| IGLL1immunoglobulin lambda like polypeptide 1 | Meget ofte (80–99 %) | I 1 tilstand |
| IL17Finterleukin 17F | Meget ofte (80–99 %) | I 1 tilstand |
| IL17RAinterleukin 17 receptor A | Meget ofte (80–99 %) | I 1 tilstand |
| IL17RCinterleukin 17 receptor C | Meget ofte (80–99 %) | I 1 tilstand |
| IL7Rinterleukin 7 receptor | Meget ofte (80–99 %) | I 1 tilstand |
| LRRC8Aleucine rich repeat containing 8 VRAC subunit A | Meget ofte (80–99 %) | I 1 tilstand |
| LYSTlysosomal trafficking regulator | Meget ofte (80–99 %) | I 2 tilstande |
| MAN2B1mannosidase alpha class 2B member 1 | Meget ofte (80–99 %) | I 2 tilstande |
| ORAI1ORAI calcium release-activated calcium modulator 1 | Meget ofte (80–99 %) | I 1 tilstand |
| PGM3phosphoglucomutase 3 | Meget ofte (80–99 %) | I 1 tilstand |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Meget ofte (80–99 %) | I 1 tilstand |
| SLC35C1solute carrier family 35 member C1 | Meget ofte (80–99 %) | I 1 tilstand |
| SPI1Spi-1 proto-oncogene | Meget ofte (80–99 %) | I 1 tilstand |
| SPINK5serine peptidase inhibitor Kazal type 5 | Meget ofte (80–99 %) | I 2 tilstande |
| STAT3signal transducer and activator of transcription 3 | Meget ofte (80–99 %) | I 1 tilstand |
| TRAF3IP2TRAF3 interacting protein 2 | Meget ofte (80–99 %) | I 1 tilstand |
| UROC1urocanate hydratase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| ADA2adenosine deaminase 2 | Ofte (30–79 %) | I 1 tilstand |
| ALDH1A2aldehyde dehydrogenase 1 family member A2 | Ofte (30–79 %) | I 1 tilstand |
| ANKRD17ankyrin repeat domain 17 | Ofte (30–79 %) | I 1 tilstand |
| ANTXR2ANTXR cell adhesion molecule 2 | Ofte (30–79 %) | I 1 tilstand |
| ARID1AAT-rich interaction domain 1A | Ofte (30–79 %) | I 2 tilstande |
| ARID1BAT-rich interaction domain 1B | Ofte (30–79 %) | I 1 tilstand |
| ARID2AT-rich interaction domain 2 | Ofte (30–79 %) | I 1 tilstand |
| ASXL1ASXL transcriptional regulator 1 | Ofte (30–79 %) | I 2 tilstande |
| ASXL3ASXL transcriptional regulator 3 | Ofte (30–79 %) | I 1 tilstand |
| ATP6AP1ATPase H+ transporting accessory protein 1 | Ofte (30–79 %) | I 1 tilstand |
| BCL11BBCL11 transcription factor B | Ofte (30–79 %) | I 1 tilstand |
| BLMBLM RecQ like helicase | Ofte (30–79 %) | I 1 tilstand |
| C1GALT1C1C1GALT1 specific chaperone 1 | Ofte (30–79 %) | I 1 tilstand |
| C1Rcomplement C1r | Ofte (30–79 %) | I 2 tilstande |
| C1Scomplement C1s | Ofte (30–79 %) | I 1 tilstand |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Ofte (30–79 %) | I 1 tilstand |
| CBLIFcobalamin binding intrinsic factor | Ofte (30–79 %) | I 1 tilstand |
| CCDC47coiled-coil domain containing 47 | Ofte (30–79 %) | I 1 tilstand |
| CD70CD70 molecule | Ofte (30–79 %) | I 1 tilstand |
| CDC42cell division cycle 42 | Ofte (30–79 %) | I 2 tilstande |
| CLPBClpB family mitochondrial disaggregase | Ofte (30–79 %) | I 1 tilstand |
| CPLX1complexin 1 | Ofte (30–79 %) | I 1 tilstand |
| CPSF3cleavage and polyadenylation specific factor 3 | Ofte (30–79 %) | I 1 tilstand |
| CRIPTCXXC repeat containing interactor of PDZ3 domain | Ofte (30–79 %) | I 1 tilstand |
| CTCFCCCTC-binding factor | Ofte (30–79 %) | I 2 tilstande |
| DHCR77-dehydrocholesterol reductase | Ofte (30–79 %) | I 1 tilstand |
| DIAPH1diaphanous related formin 1 | Ofte (30–79 %) | I 1 tilstand |
| DOHHdeoxyhypusine hydroxylase | Ofte (30–79 %) | I 1 tilstand |
| DPF2double PHD fingers 2 | Ofte (30–79 %) | I 1 tilstand |
| DRG1developmentally regulated GTP binding protein 1 | Ofte (30–79 %) | I 1 tilstand |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Ofte (30–79 %) | I 2 tilstande |
| EBF3EBF transcription factor 3 | Ofte (30–79 %) | I 1 tilstand |
| EOMESeomesodermin | Ofte (30–79 %) | I 1 tilstand |
| EXTL3exostosin like glycosyltransferase 3 | Ofte (30–79 %) | I 1 tilstand |
| FBXO11F-box protein 11 | Ofte (30–79 %) | I 1 tilstand |
| GINS3GINS complex subunit 3 | Ofte (30–79 %) | I 1 tilstand |
| GRM7glutamate metabotropic receptor 7 | Ofte (30–79 %) | I 1 tilstand |
| GUK1guanylate kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| HELLShelicase, lymphoid specific | Ofte (30–79 %) | I 1 tilstand |
| IARS1isoleucyl-tRNA synthetase 1 | Ofte (30–79 %) | I 1 tilstand |
| IGHG2immunoglobulin heavy constant gamma 2 (G2m marker) | Ofte (30–79 %) | I 1 tilstand |
| INSRinsulin receptor | Ofte (30–79 %) | I 2 tilstande |
| ITCHitchy E3 ubiquitin protein ligase | Ofte (30–79 %) | I 1 tilstand |
| KDM6Alysine demethylase 6A | Ofte (30–79 %) | I 2 tilstande |
| KMT2Clysine methyltransferase 2C | Ofte (30–79 %) | I 1 tilstand |
| KMT2Dlysine methyltransferase 2D | Ofte (30–79 %) | I 2 tilstande |
| LMBRD1LMBR1 domain containing 1 | Ofte (30–79 %) | I 2 tilstande |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Ofte (30–79 %) | I 1 tilstand |
| MC2Rmelanocortin 2 receptor | Ofte (30–79 %) | I 2 tilstande |
| MECP2methyl-CpG binding protein 2 | Ofte (30–79 %) | I 1 tilstand |
| MGME1mitochondrial genome maintenance exonuclease 1 | Ofte (30–79 %) | I 2 tilstande |
| MRAPmelanocortin 2 receptor accessory protein | Ofte (30–79 %) | I 1 tilstand |
| NNTnicotinamide nucleotide transhydrogenase | Ofte (30–79 %) | I 1 tilstand |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Ofte (30–79 %) | I 1 tilstand |
| PNPpurine nucleoside phosphorylase | Ofte (30–79 %) | I 1 tilstand |
| POLEDNA polymerase epsilon, catalytic subunit | Ofte (30–79 %) | I 1 tilstand |
| PPM1Dprotein phosphatase, Mg2+/Mn2+ dependent 1D | Ofte (30–79 %) | I 1 tilstand |
| RECQLRecQ like helicase | Ofte (30–79 %) | I 1 tilstand |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Ofte (30–79 %) | I 1 tilstand |
| SEC61A1SEC61 translocon subunit alpha 1 | Ofte (30–79 %) | I 1 tilstand |
| SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | Ofte (30–79 %) | I 1 tilstand |
| SETD1ASET domain containing 1A, histone lysine methyltransferase | Ofte (30–79 %) | I 1 tilstand |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Ofte (30–79 %) | I 1 tilstand |
| SIN3ASIN3 transcription regulator family member A | Ofte (30–79 %) | I 1 tilstand |
| SLC39A8solute carrier family 39 member 8 | Ofte (30–79 %) | I 2 tilstande |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Ofte (30–79 %) | I 2 tilstande |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Ofte (30–79 %) | I 2 tilstande |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Ofte (30–79 %) | I 2 tilstande |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Ofte (30–79 %) | I 1 tilstand |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Ofte (30–79 %) | I 1 tilstand |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Ofte (30–79 %) | I 2 tilstande |
| SOX11SRY-box transcription factor 11 | Ofte (30–79 %) | I 1 tilstand |
| SOX4SRY-box transcription factor 4 | Ofte (30–79 %) | I 1 tilstand |
| STARsteroidogenic acute regulatory protein | Ofte (30–79 %) | I 1 tilstand |
| STAT1signal transducer and activator of transcription 1 | Ofte (30–79 %) | I 2 tilstande |
| STAT4signal transducer and activator of transcription 4 | Ofte (30–79 %) | I 1 tilstand |
| STAT5Bsignal transducer and activator of transcription 5B | Ofte (30–79 %) | I 1 tilstand |
| SYKspleen associated tyrosine kinase | Ofte (30–79 %) | I 1 tilstand |
| TFtransferrin | Ofte (30–79 %) | I 1 tilstand |
| TOP3ADNA topoisomerase III alpha | Ofte (30–79 %) | I 1 tilstand |
| TSEN15tRNA splicing endonuclease subunit 15 | Ofte (30–79 %) | I 1 tilstand |
| TSEN2tRNA splicing endonuclease subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| TSEN34tRNA splicing endonuclease subunit 34 | Ofte (30–79 %) | I 1 tilstand |
| TSEN54tRNA splicing endonuclease subunit 54 | Ofte (30–79 %) | I 1 tilstand |
| TXNRD2thioredoxin reductase 2 | Ofte (30–79 %) | I 1 tilstand |
| TYMSthymidylate synthetase | Ofte (30–79 %) | I 1 tilstand |
| UBE3Bubiquitin protein ligase E3B | Ofte (30–79 %) | I 1 tilstand |
| VIPAS39VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog | Ofte (30–79 %) | I 1 tilstand |
| VPS33BVPS33B late endosome and lysosome associated | Ofte (30–79 %) | I 1 tilstand |
| AARS1alanyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ABCA12ATP binding cassette subfamily A member 12 | Nogle gange (5–29 %) | I 1 tilstand |
| ACP5acid phosphatase 5, tartrate resistant | Nogle gange (5–29 %) | I 1 tilstand |
| AKT1AKT serine/threonine kinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| ALOX12Barachidonate 12-lipoxygenase, 12R type | Nogle gange (5–29 %) | I 1 tilstand |
| ALOXE3arachidonate epidermal lipoxygenase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| ARL2BPARF like GTPase 2 binding protein | Nogle gange (5–29 %) | I 1 tilstand |
| ASPRV1aspartic peptidase retroviral like 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CARS1cysteinyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CRELD1CRELD disulfide isomerase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CYP4F22cytochrome P450 family 4 subfamily F member 22 | Nogle gange (5–29 %) | I 1 tilstand |
| DBR1debranching RNA lariats 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DDX6DEAD-box helicase 6 | Nogle gange (5–29 %) | I 1 tilstand |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Nogle gange (5–29 %) | I 2 tilstande |
| EFL1elongation factor like GTPase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| EIF2AK3eukaryotic translation initiation factor 2 alpha kinase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Nogle gange (5–29 %) | I 2 tilstande |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Nogle gange (5–29 %) | I 1 tilstand |
| FAM177A1family with sequence similarity 177 member A1 | Nogle gange (5–29 %) | I 1 tilstand |
| FBXL4F-box and leucine rich repeat protein 4 | Nogle gange (5–29 %) | I 1 tilstand |
| FOXP3forkhead box P3 | Nogle gange (5–29 %) | I 1 tilstand |
| GALCgalactosylceramidase | Nogle gange (5–29 %) | I 1 tilstand |
| GIMAP5GTPase, IMAP family member 5 | Nogle gange (5–29 %) | I 1 tilstand |
| GLIS3GLIS family zinc finger 3 | Nogle gange (5–29 %) | I 1 tilstand |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Nogle gange (5–29 %) | I 1 tilstand |
| GTF2E2general transcription factor IIE subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| H4C5H4 clustered histone 5 | Nogle gange (5–29 %) | I 1 tilstand |
| IFNGinterferon gamma | Nogle gange (5–29 %) | I 1 tilstand |
| KMT2Blysine methyltransferase 2B | Nogle gange (5–29 %) | I 1 tilstand |
| KRT14keratin 14 | Nogle gange (5–29 %) | I 1 tilstand |
| KRT5keratin 5 | Nogle gange (5–29 %) | I 1 tilstand |
| LIG3DNA ligase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| LIPNlipase family member N | Nogle gange (5–29 %) | I 1 tilstand |
| LONP1lon peptidase 1, mitochondrial | Nogle gange (5–29 %) | I 1 tilstand |
| LRRC7leucine rich repeat containing 7 | Nogle gange (5–29 %) | I 1 tilstand |
| MEFVMEFV innate immunity regulator, pyrin | Nogle gange (5–29 %) | I 1 tilstand |
| MPLKIPM-phase specific PLK1 interacting protein | Nogle gange (5–29 %) | I 1 tilstand |
| MYD88MYD88 innate immune signal transduction adaptor | Nogle gange (5–29 %) | I 1 tilstand |
| NBEAneurobeachin | Nogle gange (5–29 %) | I 1 tilstand |
| NIPAL4NIPA like domain containing 4 | Nogle gange (5–29 %) | I 1 tilstand |
| NRASNRAS proto-oncogene, GTPase | Nogle gange (5–29 %) | I 1 tilstand |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PHKA2phosphorylase kinase regulatory subunit alpha 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PHKBphosphorylase kinase regulatory subunit beta | Nogle gange (5–29 %) | I 1 tilstand |
| PHKG2phosphorylase kinase catalytic subunit gamma 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PI4K2Aphosphatidylinositol 4-kinase type 2 alpha | Nogle gange (5–29 %) | I 1 tilstand |
| POGZpogo transposable element derived with ZNF domain | Nogle gange (5–29 %) | I 1 tilstand |
| POLA1DNA polymerase alpha 1, catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| PRF1perforin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PSAPprosaposin | Nogle gange (5–29 %) | I 1 tilstand |
| PTPN6protein tyrosine phosphatase non-receptor type 6 | Nogle gange (5–29 %) | I 1 tilstand |
| SBDSSBDS ribosome maturation factor | Nogle gange (5–29 %) | I 2 tilstande |
| SDR9C7short chain dehydrogenase/reductase family 9C member 7 | Nogle gange (5–29 %) | I 1 tilstand |
| SKIC2SKI2 subunit of superkiller complex | Nogle gange (5–29 %) | I 1 tilstand |
| SKIC3SKI3 subunit of superkiller complex | Nogle gange (5–29 %) | I 1 tilstand |
| SLC2A1solute carrier family 2 member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SLF2SMC5/6 complex localization factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SONSON DNA and RNA binding protein | Nogle gange (5–29 %) | I 1 tilstand |
| SULT2B1sulfotransferase family 2B member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TARS1threonyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TERCtelomerase RNA component | Nogle gange (5–29 %) | I 1 tilstand |
| TERTtelomerase reverse transcriptase | Nogle gange (5–29 %) | I 1 tilstand |
| TGM1transglutaminase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TRAF7TNF receptor associated factor 7 | Nogle gange (5–29 %) | I 1 tilstand |
| TRRAPtransformation/transcription domain associated protein | Nogle gange (5–29 %) | I 1 tilstand |
| VPS4Avacuolar protein sorting 4 homolog A | Nogle gange (5–29 %) | I 1 tilstand |
| XIAPX-linked inhibitor of apoptosis | Nogle gange (5–29 %) | I 2 tilstande |
| YY1YY1 transcription factor | Nogle gange (5–29 %) | I 2 tilstande |
| ZEB2zinc finger E-box binding homeobox 2 | Nogle gange (5–29 %) | I 2 tilstande |
| ZNF699zinc finger protein 699 | Nogle gange (5–29 %) | I 1 tilstand |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Sjældent (1–4%) | I 1 tilstand |
| CTNNB1catenin beta 1 | Sjældent (1–4%) | I 1 tilstand |
| PTENphosphatase and tensin homolog | Sjældent (1–4%) | I 2 tilstande |
| SPTBN1spectrin beta, non-erythrocytic 1 | Sjældent (1–4%) | I 1 tilstand |
| ARPC1Bactin related protein 2/3 complex subunit 1B | Ikke registreret | I 1 tilstand |
| BTKBruton tyrosine kinase | Ikke registreret | I 1 tilstand |
| C1QAcomplement C1q A chain | Ikke registreret | I 1 tilstand |
| CAVIN1caveolae associated protein 1 | Ikke registreret | I 1 tilstand |
| CCR2C-C motif chemokine receptor 2 | Ikke registreret | I 1 tilstand |
| CD27CD27 molecule | Ikke registreret | I 1 tilstand |
| CD55CD55 molecule (Cromer blood group) | Ikke registreret | I 1 tilstand |
| COG1component of oligomeric golgi complex 1 | Ikke registreret | I 1 tilstand |
| CR2complement C3d receptor 2 | Ikke registreret | I 1 tilstand |
| CYBC1cytochrome b-245 chaperone 1 | Ikke registreret | I 1 tilstand |
| DGCR2DiGeorge syndrome critical region gene 2 | Ikke registreret | I 1 tilstand |
| DGCR6DiGeorge syndrome critical region gene 6 | Ikke registreret | I 1 tilstand |
| DGCR8DGCR8 microprocessor complex subunit | Ikke registreret | I 1 tilstand |
| ESS2ess-2 spliceosome associated protein | Ikke registreret | I 1 tilstand |
| FADDFas associated via death domain | Ikke registreret | I 1 tilstand |
| IL12RB1interleukin 12 receptor subunit beta 1 | Ikke registreret | I 1 tilstand |
| IRF8interferon regulatory factor 8 | Ikke registreret | I 2 tilstande |
| LMNB2lamin B2 | Ikke registreret | I 1 tilstand |
| MANBAmannosidase beta | Ikke registreret | I 1 tilstand |
| MED13Lmediator complex subunit 13L | Ikke registreret | I 1 tilstand |
| MTHFD1methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 | Ikke registreret | I 1 tilstand |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Ikke registreret | I 1 tilstand |
| NCF4neutrophil cytosolic factor 4 | Ikke registreret | I 1 tilstand |
| NFKB1nuclear factor kappa B subunit 1 | Ikke registreret | I 1 tilstand |
| NPHS1NPHS1 adhesion molecule, nephrin | Ikke registreret | I 1 tilstand |
| PSMB4proteasome 20S subunit beta 4 | Ikke registreret | I 1 tilstand |
| RPL11ribosomal protein L11 | Ikke registreret | I 1 tilstand |
| SERAC1serine active site containing 1 | Ikke registreret | I 1 tilstand |
| SLC35A2solute carrier family 35 member A2 | Ikke registreret | I 1 tilstand |
| SRP54signal recognition particle 54 | Ikke registreret | I 1 tilstand |
| TBX1T-box transcription factor 1 | Ikke registreret | I 2 tilstande |
| TLR8toll like receptor 8 | Ikke registreret | I 1 tilstand |
| ZBTB24zinc finger and BTB domain containing 24 | Ikke registreret | I 1 tilstand |
| ZNF341zinc finger protein 341 | 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.
Snævrere træk
- Recurrent respiratory infections417 gener
- Recurrent middle ear infection242 gener
- Frequent urinary tract infections169 gener
- Recurrent bacterial infections103 gener
- Recurrent viral infections54 gener
- Recurrent fungal infections33 gener
- Recurrent ear infections23 gener
- Recurrent infection of the gastrointestinal tract21 gener
- Recurrent inflammation of tonsils17 gener
- Recurrent abscess formation11 gener
- Recurrent opportunistic infections10 gener
- Recurrent protozoan infections4 gener
- Recurrent gingivitis2 gener
- Recurrent infections in infancy and early childhood1 gen
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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