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Egenskap
Recurrent infections
Increased susceptibility to infections as manifested by repeated bouts of infection.
Sammendrag
- Også kalt
- Frequent infections, Frequent, severe infections, Increased frequency of infection, infections, recurrent, Predisposition to infections, Susceptibility to infection
- Kroppssystem
- Abnormality of the immune system
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Denne siden som data
Legg til .json etter adressen til siden, eller be om application/json, for å lese den som JSON.
library(jsonlite)
url <- "https://dantelabs.com/traits/recurrent-infections.json"
page <- fromJSON(url)
page$trait$nameRecurrent infectionsHP:0002719
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Les genene knyttet til Recurrent infections, og resten av genomet ditt, med én test.
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Få mitt 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
- Intellectual DisabilityReads 28 of these genesATP6AP2DEAF1RPL10TRIOEHMT1ARID1AAbout this report →
- Chronic Mucocutaneous CandidiasisReads 4 of these genesIL17RAIL17RCTRAF3IP2STAT1About this report →
- 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 →
- Stüve-Wiedemann SyndromeReads 1 of these genesLIFRAbout this report →
- Vici SyndromeReads 1 of these genesEPG5About this report →
- ZTTK SyndromeReads 1 of these genesSONAbout this report →
- Mendelian Susceptibility to Mycobacterial Disease (MSMD)Reads 3 of these genesSTAT1IL12RB1IRF8About this report →
- Pontocerebellar Hypoplasia (TSEN54 and MINPP1)Reads 4 of these genesSEPSECSTSEN15TSEN2TSEN54About this report →
- Epilepsy (Full Panel)Reads 12 of these genesALG13ATP6AP2FLNAGOT2CPLX1MECP2About this report →
- 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 →
- Inherited Complement and Properdin DeficienciesReads 2 of these genesC1SC1QAAbout this report →
- Epidermolysis BullosaReads 2 of these genesKRT14KRT5About this report →
- DNA Repair DiseaseReads 3 of these genesGTF2H5ERCC2ERCC3About this report →
- Homocystinuria & Cobalamin DisordersReads 2 of these genesCBLIFLMBRD1About this report →
- Autosomal Dominant Tubulointerstitial Kidney DiseaseReads 1 of these genesSEC61A1About this report →
- Hereditary Methaemoglobinaemia and Unstable HaemoglobinsReads 1 of these genesHBBAbout this report →
- Mosaic Variegated Aneuploidy SyndromeReads 1 of these genesSLF2About this report →
- Periventricular Nodular HeterotopiaReads 1 of these genesFLNAAbout this report →
- ThalassaemiaReads 1 of these genesHBBAbout this report →
- Ehlers-Danlos SyndromeReads 2 of these genesC1RC1SAbout this report →
- Primary Mitochondrial DiseaseReads 5 of these genesGUK1MGME1TOP3AFBXL4LIG3About this report →
- Noonan SyndromeReads 2 of these genesNRASBRAFAbout this report →
- Syndromic Complex Neurodevelopmental DisorderReads 2 of these genesANKRD17TRAF7About this report →
- Inherited Neurodegenerative DisordersReads 8 of these genesLYSTSEPSECSTSEN15TSEN2TSEN54AARS1About this report →
- Growth Hormone Insensitivity & IGF-1 Axis DisordersReads 1 of these genesSTAT5BAbout this report →
- Hereditary Periodic Fever SyndromesReads 1 of these genesMVKAbout this report →
- Rare Inherited Bone Marrow Failure SyndromesReads 1 of these genesDNAJC21About this report →
- Autoimmune Lymphoproliferative Syndrome (ALPS)Reads 1 of these genesPRKCDAbout this report →
- 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 →
- Other Inherited LeukodystrophiesReads 3 of these genesAARS1GALCPSAPAbout this report →
- 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 →
Les genene knyttet til Recurrent infections, og resten av genomet ditt, med én test.
Fra 449 $Gratis frakt · Resultater på 6–8 uker
Få mitt Genome Test282 gener knyttet til Recurrent infections
Endringer i disse genene forårsaker sjeldne tilstander der Recurrent infections forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Alltid | I 1 tilstand |
| ATP6AP2ATPase H+ transporting accessory protein 2 | Alltid | I 1 tilstand |
| BCL10BCL10 immune signaling adaptor | Alltid | I 1 tilstand |
| CARD11caspase recruitment domain family member 11 | Alltid | I 1 tilstand |
| CCT3chaperonin containing TCP1 subunit 3 | Alltid | I 1 tilstand |
| CDCA7cell division cycle associated 7 | Alltid | I 1 tilstand |
| COG6component of oligomeric golgi complex 6 | Alltid | I 1 tilstand |
| COPZ1coat protein complex I subunit zeta 1 | Alltid | I 1 tilstand |
| CSF3Rcolony stimulating factor 3 receptor | Alltid | I 1 tilstand |
| DAND5DAN domain BMP antagonist family member 5 | Alltid | I 1 tilstand |
| DEAF1DEAF1 transcription factor | Alltid | I 2 tilstander |
| DPP9dipeptidyl peptidase 9 | Alltid | I 1 tilstand |
| FLNAfilamin A | Alltid | I 2 tilstander |
| GINS1GINS complex subunit 1 | Alltid | I 1 tilstand |
| GON4Lgon-4 like | Alltid | I 1 tilstand |
| GOT2glutamic-oxaloacetic transaminase 2 | Alltid | I 1 tilstand |
| GTF2H5general transcription factor IIH subunit 5 | Alltid | I 2 tilstander |
| IGKCimmunoglobulin kappa constant | Alltid | I 2 tilstander |
| IKBKBinhibitor of nuclear factor kappa B kinase subunit beta | Alltid | I 1 tilstand |
| IL21Rinterleukin 21 receptor | Alltid | I 1 tilstand |
| ITGB2integrin subunit beta 2 | Alltid | I 1 tilstand |
| ITKIL2 inducible T cell kinase | Alltid | I 1 tilstand |
| LATlinker for activation of T cells | Alltid | I 1 tilstand |
| LCP2lymphocyte cytosolic protein 2 | Alltid | I 1 tilstand |
| LIFRLIF receptor subunit alpha | Alltid | I 1 tilstand |
| LIG1DNA ligase 1 | Alltid | I 1 tilstand |
| LRBALPS responsive beige-like anchor protein | Alltid | I 1 tilstand |
| MVKmevalonate kinase | Alltid | I 2 tilstander |
| MYH11myosin heavy chain 11 | Alltid | I 1 tilstand |
| NCF2neutrophil cytosolic factor 2 | Alltid | I 1 tilstand |
| NCKAP1LNCK associated protein 1 like | Alltid | I 1 tilstand |
| OFD1OFD1 centriole and centriolar satellite protein | Alltid | I 1 tilstand |
| PEPDpeptidase D | Alltid | I 1 tilstand |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Alltid | I 2 tilstander |
| PRIM1DNA primase subunit 1 | Alltid | I 1 tilstand |
| PRKCDprotein kinase C delta | Alltid | I 1 tilstand |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Alltid | I 3 tilstander |
| PTCRApre T cell antigen receptor alpha | Alltid | I 1 tilstand |
| RASGRP1RAS guanyl releasing protein 1 | Alltid | I 1 tilstand |
| RBSNrabenosyn, RAB effector | Alltid | I 1 tilstand |
Vis 242 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| RNF113Aring finger protein 113A | Alltid | I 2 tilstander |
| RPL10ribosomal protein L10 | Alltid | I 3 tilstander |
| SLC46A1solute carrier family 46 member 1 | Alltid | I 1 tilstand |
| STIM1stromal interaction molecule 1 | Alltid | I 1 tilstand |
| STING1stimulator of interferon response cGAMP interactor 1 | Alltid | I 1 tilstand |
| TCF3transcription factor 3 | Alltid | I 3 tilstander |
| TOP2BDNA topoisomerase II beta | Alltid | I 1 tilstand |
| TRIOtrio Rho guanine nucleotide exchange factor | Alltid | I 2 tilstander |
| VPS45vacuolar protein sorting 45 homolog | Alltid | I 1 tilstand |
| WDR1WD repeat domain 1 | Alltid | I 1 tilstand |
| WIPF1WAS/WASL interacting protein family member 1 | Alltid | I 1 tilstand |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Svært ofte (80–99 %) | I 1 tilstand |
| BLNKB cell linker | Svært ofte (80–99 %) | I 1 tilstand |
| CD247CD247 molecule | Svært ofte (80–99 %) | I 1 tilstand |
| CD3DCD3 delta subunit of T-cell receptor complex | Svært ofte (80–99 %) | I 1 tilstand |
| CD3ECD3 epsilon subunit of T-cell receptor complex | Svært ofte (80–99 %) | I 1 tilstand |
| CD79ACD79a molecule | Svært ofte (80–99 %) | I 1 tilstand |
| CD79BCD79b molecule | Svært ofte (80–99 %) | I 1 tilstand |
| CLEC7AC-type lectin domain containing 7A | Svært ofte (80–99 %) | I 1 tilstand |
| COG7component of oligomeric golgi complex 7 | Svært ofte (80–99 %) | I 2 tilstander |
| EHMT1euchromatic histone lysine methyltransferase 1 | Svært ofte (80–99 %) | I 2 tilstander |
| EPG5ectopic P-granules 5 autophagy tethering factor | Svært ofte (80–99 %) | I 1 tilstand |
| FOXN1forkhead box N1 | Svært ofte (80–99 %) | I 1 tilstand |
| HBBhemoglobin subunit beta | Svært ofte (80–99 %) | I 1 tilstand |
| HLA-DQB1major histocompatibility complex, class II, DQ beta 1 | Svært ofte (80–99 %) | I 1 tilstand |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Svært ofte (80–99 %) | I 1 tilstand |
| IGHMimmunoglobulin heavy constant mu | Svært ofte (80–99 %) | I 1 tilstand |
| IGLL1immunoglobulin lambda like polypeptide 1 | Svært ofte (80–99 %) | I 1 tilstand |
| IL17Finterleukin 17F | Svært ofte (80–99 %) | I 1 tilstand |
| IL17RAinterleukin 17 receptor A | Svært ofte (80–99 %) | I 1 tilstand |
| IL17RCinterleukin 17 receptor C | Svært ofte (80–99 %) | I 1 tilstand |
| IL7Rinterleukin 7 receptor | Svært ofte (80–99 %) | I 1 tilstand |
| LRRC8Aleucine rich repeat containing 8 VRAC subunit A | Svært ofte (80–99 %) | I 1 tilstand |
| LYSTlysosomal trafficking regulator | Svært ofte (80–99 %) | I 2 tilstander |
| MAN2B1mannosidase alpha class 2B member 1 | Svært ofte (80–99 %) | I 2 tilstander |
| ORAI1ORAI calcium release-activated calcium modulator 1 | Svært ofte (80–99 %) | I 1 tilstand |
| PGM3phosphoglucomutase 3 | Svært ofte (80–99 %) | I 1 tilstand |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Svært ofte (80–99 %) | I 1 tilstand |
| SLC35C1solute carrier family 35 member C1 | Svært ofte (80–99 %) | I 1 tilstand |
| SPI1Spi-1 proto-oncogene | Svært ofte (80–99 %) | I 1 tilstand |
| SPINK5serine peptidase inhibitor Kazal type 5 | Svært ofte (80–99 %) | I 2 tilstander |
| STAT3signal transducer and activator of transcription 3 | Svært ofte (80–99 %) | I 1 tilstand |
| TRAF3IP2TRAF3 interacting protein 2 | Svært ofte (80–99 %) | I 1 tilstand |
| UROC1urocanate hydratase 1 | Svært 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| ITCHitchy E3 ubiquitin protein ligase | Ofte (30–79 %) | I 1 tilstand |
| KDM6Alysine demethylase 6A | Ofte (30–79 %) | I 2 tilstander |
| KMT2Clysine methyltransferase 2C | Ofte (30–79 %) | I 1 tilstand |
| KMT2Dlysine methyltransferase 2D | Ofte (30–79 %) | I 2 tilstander |
| LMBRD1LMBR1 domain containing 1 | Ofte (30–79 %) | I 2 tilstander |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Ofte (30–79 %) | I 1 tilstand |
| MC2Rmelanocortin 2 receptor | Ofte (30–79 %) | I 2 tilstander |
| MECP2methyl-CpG binding protein 2 | Ofte (30–79 %) | I 1 tilstand |
| MGME1mitochondrial genome maintenance exonuclease 1 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Ofte (30–79 %) | I 2 tilstander |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Ofte (30–79 %) | I 2 tilstander |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 | Noen ganger (5–29 %) | I 1 tilstand |
| ABCA12ATP binding cassette subfamily A member 12 | Noen ganger (5–29 %) | I 1 tilstand |
| ACP5acid phosphatase 5, tartrate resistant | Noen ganger (5–29 %) | I 1 tilstand |
| AKT1AKT serine/threonine kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| ALOX12Barachidonate 12-lipoxygenase, 12R type | Noen ganger (5–29 %) | I 1 tilstand |
| ALOXE3arachidonate epidermal lipoxygenase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| ARL2BPARF like GTPase 2 binding protein | Noen ganger (5–29 %) | I 1 tilstand |
| ASPRV1aspartic peptidase retroviral like 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CARS1cysteinyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CRELD1CRELD disulfide isomerase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CYP4F22cytochrome P450 family 4 subfamily F member 22 | Noen ganger (5–29 %) | I 1 tilstand |
| DBR1debranching RNA lariats 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DDX6DEAD-box helicase 6 | Noen ganger (5–29 %) | I 1 tilstand |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Noen ganger (5–29 %) | I 2 tilstander |
| EFL1elongation factor like GTPase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| EIF2AK3eukaryotic translation initiation factor 2 alpha kinase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Noen ganger (5–29 %) | I 2 tilstander |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Noen ganger (5–29 %) | I 1 tilstand |
| FAM177A1family with sequence similarity 177 member A1 | Noen ganger (5–29 %) | I 1 tilstand |
| FBXL4F-box and leucine rich repeat protein 4 | Noen ganger (5–29 %) | I 1 tilstand |
| FOXP3forkhead box P3 | Noen ganger (5–29 %) | I 1 tilstand |
| GALCgalactosylceramidase | Noen ganger (5–29 %) | I 1 tilstand |
| GIMAP5GTPase, IMAP family member 5 | Noen ganger (5–29 %) | I 1 tilstand |
| GLIS3GLIS family zinc finger 3 | Noen ganger (5–29 %) | I 1 tilstand |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Noen ganger (5–29 %) | I 1 tilstand |
| GTF2E2general transcription factor IIE subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| H4C5H4 clustered histone 5 | Noen ganger (5–29 %) | I 1 tilstand |
| IFNGinterferon gamma | Noen ganger (5–29 %) | I 1 tilstand |
| KMT2Blysine methyltransferase 2B | Noen ganger (5–29 %) | I 1 tilstand |
| KRT14keratin 14 | Noen ganger (5–29 %) | I 1 tilstand |
| KRT5keratin 5 | Noen ganger (5–29 %) | I 1 tilstand |
| LIG3DNA ligase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| LIPNlipase family member N | Noen ganger (5–29 %) | I 1 tilstand |
| LONP1lon peptidase 1, mitochondrial | Noen ganger (5–29 %) | I 1 tilstand |
| LRRC7leucine rich repeat containing 7 | Noen ganger (5–29 %) | I 1 tilstand |
| MEFVMEFV innate immunity regulator, pyrin | Noen ganger (5–29 %) | I 1 tilstand |
| MPLKIPM-phase specific PLK1 interacting protein | Noen ganger (5–29 %) | I 1 tilstand |
| MYD88MYD88 innate immune signal transduction adaptor | Noen ganger (5–29 %) | I 1 tilstand |
| NBEAneurobeachin | Noen ganger (5–29 %) | I 1 tilstand |
| NIPAL4NIPA like domain containing 4 | Noen ganger (5–29 %) | I 1 tilstand |
| NRASNRAS proto-oncogene, GTPase | Noen ganger (5–29 %) | I 1 tilstand |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PHKA2phosphorylase kinase regulatory subunit alpha 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PHKBphosphorylase kinase regulatory subunit beta | Noen ganger (5–29 %) | I 1 tilstand |
| PHKG2phosphorylase kinase catalytic subunit gamma 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PI4K2Aphosphatidylinositol 4-kinase type 2 alpha | Noen ganger (5–29 %) | I 1 tilstand |
| POGZpogo transposable element derived with ZNF domain | Noen ganger (5–29 %) | I 1 tilstand |
| POLA1DNA polymerase alpha 1, catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| PRF1perforin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PSAPprosaposin | Noen ganger (5–29 %) | I 1 tilstand |
| PTPN6protein tyrosine phosphatase non-receptor type 6 | Noen ganger (5–29 %) | I 1 tilstand |
| SBDSSBDS ribosome maturation factor | Noen ganger (5–29 %) | I 2 tilstander |
| SDR9C7short chain dehydrogenase/reductase family 9C member 7 | Noen ganger (5–29 %) | I 1 tilstand |
| SKIC2SKI2 subunit of superkiller complex | Noen ganger (5–29 %) | I 1 tilstand |
| SKIC3SKI3 subunit of superkiller complex | Noen ganger (5–29 %) | I 1 tilstand |
| SLC2A1solute carrier family 2 member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SLF2SMC5/6 complex localization factor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SONSON DNA and RNA binding protein | Noen ganger (5–29 %) | I 1 tilstand |
| SULT2B1sulfotransferase family 2B member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TARS1threonyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TERCtelomerase RNA component | Noen ganger (5–29 %) | I 1 tilstand |
| TERTtelomerase reverse transcriptase | Noen ganger (5–29 %) | I 1 tilstand |
| TGM1transglutaminase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TRAF7TNF receptor associated factor 7 | Noen ganger (5–29 %) | I 1 tilstand |
| TRRAPtransformation/transcription domain associated protein | Noen ganger (5–29 %) | I 1 tilstand |
| VPS4Avacuolar protein sorting 4 homolog A | Noen ganger (5–29 %) | I 1 tilstand |
| XIAPX-linked inhibitor of apoptosis | Noen ganger (5–29 %) | I 2 tilstander |
| YY1YY1 transcription factor | Noen ganger (5–29 %) | I 2 tilstander |
| ZEB2zinc finger E-box binding homeobox 2 | Noen ganger (5–29 %) | I 2 tilstander |
| ZNF699zinc finger protein 699 | Noen ganger (5–29 %) | I 1 tilstand |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Sjelden (1–4%) | I 1 tilstand |
| CTNNB1catenin beta 1 | Sjelden (1–4%) | I 1 tilstand |
| PTENphosphatase and tensin homolog | Sjelden (1–4%) | I 2 tilstander |
| SPTBN1spectrin beta, non-erythrocytic 1 | Sjelden (1–4%) | I 1 tilstand |
| ARPC1Bactin related protein 2/3 complex subunit 1B | Ikke registrert | I 1 tilstand |
| BTKBruton tyrosine kinase | Ikke registrert | I 1 tilstand |
| C1QAcomplement C1q A chain | Ikke registrert | I 1 tilstand |
| CAVIN1caveolae associated protein 1 | Ikke registrert | I 1 tilstand |
| CCR2C-C motif chemokine receptor 2 | Ikke registrert | I 1 tilstand |
| CD27CD27 molecule | Ikke registrert | I 1 tilstand |
| CD55CD55 molecule (Cromer blood group) | Ikke registrert | I 1 tilstand |
| COG1component of oligomeric golgi complex 1 | Ikke registrert | I 1 tilstand |
| CR2complement C3d receptor 2 | Ikke registrert | I 1 tilstand |
| CYBC1cytochrome b-245 chaperone 1 | Ikke registrert | I 1 tilstand |
| DGCR2DiGeorge syndrome critical region gene 2 | Ikke registrert | I 1 tilstand |
| DGCR6DiGeorge syndrome critical region gene 6 | Ikke registrert | I 1 tilstand |
| DGCR8DGCR8 microprocessor complex subunit | Ikke registrert | I 1 tilstand |
| ESS2ess-2 spliceosome associated protein | Ikke registrert | I 1 tilstand |
| FADDFas associated via death domain | Ikke registrert | I 1 tilstand |
| IL12RB1interleukin 12 receptor subunit beta 1 | Ikke registrert | I 1 tilstand |
| IRF8interferon regulatory factor 8 | Ikke registrert | I 2 tilstander |
| LMNB2lamin B2 | Ikke registrert | I 1 tilstand |
| MANBAmannosidase beta | Ikke registrert | I 1 tilstand |
| MED13Lmediator complex subunit 13L | Ikke registrert | I 1 tilstand |
| MTHFD1methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 | Ikke registrert | I 1 tilstand |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Ikke registrert | I 1 tilstand |
| NCF4neutrophil cytosolic factor 4 | Ikke registrert | I 1 tilstand |
| NFKB1nuclear factor kappa B subunit 1 | Ikke registrert | I 1 tilstand |
| NPHS1NPHS1 adhesion molecule, nephrin | Ikke registrert | I 1 tilstand |
| PSMB4proteasome 20S subunit beta 4 | Ikke registrert | I 1 tilstand |
| RPL11ribosomal protein L11 | Ikke registrert | I 1 tilstand |
| SERAC1serine active site containing 1 | Ikke registrert | I 1 tilstand |
| SLC35A2solute carrier family 35 member A2 | Ikke registrert | I 1 tilstand |
| SRP54signal recognition particle 54 | Ikke registrert | I 1 tilstand |
| TBX1T-box transcription factor 1 | Ikke registrert | I 2 tilstander |
| TLR8toll like receptor 8 | Ikke registrert | I 1 tilstand |
| ZBTB24zinc finger and BTB domain containing 24 | Ikke registrert | I 1 tilstand |
| ZNF341zinc finger protein 341 | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
Smalere egenskaper
- 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 egenskaper
Slik er informasjonen samlet
- Human Phenotype Ontology, versjon 2026-09-01: egenskapen, navnene på den, definisjonen og genene som er knyttet til den. Les mer på hpo.jax.org.
- Datautgave 2026.10.19-9814e911.
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