AtlasHvem vi hjælperVores videnskabProdukterResultater
Log indSpørgSekvenér dit genom↗
Træk
Increased spleen size
Klinisk navn: Splenomegaly
Abnormal increased size of the spleen.
Resumé
- Også kaldet
- Large spleen
AtlasHvem vi hjælperVores videnskabProdukterResultater
Log indSpørgSekvenér dit genom↗
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/splenomegaly.json"
page <- fromJSON(url)
page$trait$nameIncreased spleen sizeHP:0001744
AtlasHvem vi hjælperVores videnskabProdukterResultater
Log indSpørgSekvenér dit genom↗
Læs de gener, der er knyttet til Increased spleen size, og resten af dit genom, med én test.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger
Bestil min Genome Test169 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 89 of these genesAP3B1ARPC5CARD11CASP10CASP8CD27About this report →
- Lysosomal Storage DiseaseReads 27 of these genesGBA1IDSLIPAPSAPARSBGLB1About this report →
- Autoimmune DiseaseReads 13 of these genesCASP10CASP8KRASFASFASLGCTLA4About this report →
- Rare Monogenic Autoinflammatory DiseasesReads 16 of these genesLYNNLRC4ADA2DOCK11IFIH1LPIN2About this report →
Show 165 more reports
- Dyskeratosis CongenitaReads 13 of these genesPOT1ACDCTC1DKC1NHP2NOP10About this report →
- Autoimmune Lymphoproliferative Syndrome (ALPS)Reads 7 of these genesCASP10CASP8KRASFASFASLGCTLA4About this report →
- Red Blood Cell Membrane DisordersReads 7 of these genesKCNN4SLC4A1SPTBPIEZO1SPTA1EPB41About this report →
- Chronic Granulomatous DiseaseReads 6 of these genesCYBC1CYBACYBBNCF1NCF2NCF4About this report →
- ThalassaemiaReads 5 of these genesHBBHBG1HBG2HBA1HBA2About this report →
- Familial Intrahepatic CholestasisReads 7 of these genesABCB11ABCB4ATP8B1PSKH1USP53ZFYVE19About this report →
- OsteopetrosisReads 8 of these genesOSTM1PLEKHM1TCIRG1CLCN7SNX10TNFSF11About this report →
- Severe Combined ImmunodeficiencyReads 12 of these genesCARD11DCLRE1CLATNHEJ1RFXAPRAG1About this report →
- Hereditary Periodic Fever SyndromesReads 5 of these genesNLRC4MVKNLRP3NLRP12TNFRSF1AAbout this report →
- Hereditary SpherocytosisReads 5 of these genesEPB42SLC4A1SPTBANK1SPTA1About this report →
- Congenital Dyserythropoietic AnaemiasReads 4 of these genesKLF1CDAN1CDIN1SEC23BAbout this report →
- Familial Hemophagocytic LymphohistiocytosisReads 4 of these genesSTX11STXBP2PRF1UNC13DAbout this report →
- Mucopolysaccharidosis Type III (Sanfilippo Syndrome)Reads 4 of these genesGNSHGSNATSGSHNAGLUAbout this report →
- Mendelian Susceptibility to Mycobacterial Disease (MSMD)Reads 6 of these genesIRF8STAT1IFNGR1IL12RB1IL23RRORCAbout this report →
- IPEX Syndrome and Other TregopathiesReads 5 of these genesLRBACTLA4FOXP3BACH2IL2RBAbout this report →
- Inherited ThrombocytopeniasReads 11 of these genesMPLWASGATA1GNEMPIG6BNBEAL2About this report →
- LipodystrophyReads 6 of these genesLMNACAVIN1PPARGAGPAT2BSCL2CAV1About this report →
- X-Linked Lymphoproliferative Disease and XMENReads 3 of these genesMAGT1XIAPSH2D1AAbout this report →
- PorphyriaReads 5 of these genesUROSHMBSALAS2URODCPOXAbout this report →
- HyperlipidemiaReads 6 of these genesABCG8APOC2APOEGPIHBP1ABCG5LPLAbout this report →
- Common Variable Immunodeficiency (Monogenic CVID)Reads 5 of these genesCR2LRBACD19ICOSTNFRSF13BAbout this report →
- Alpha-Mannosidosis and Other GlycoproteinosesReads 4 of these genesNEU1AGAFUCA1MAN2B1About this report →
- Severe Congenital NeutropeniaReads 5 of these genesCSF3RVPS45WASCLPBG6PC3About this report →
- Type I InterferonopathiesReads 5 of these genesIFIH1PSMB10PSMB8PSMB9TREX1About this report →
- Aicardi-Goutieres SyndromeReads 4 of these genesIFIH1ADARTREX1RNASEH2AAbout this report →
- Hepatic Porphyria DisordersReads 4 of these genesHMBSALAS2URODCPOXAbout this report →
- PolycythemiaReads 4 of these genesHBBHBA1HBA2EPORAbout this report →
- Pyruvate Kinase Deficiency and Other Red Cell Enzyme DisordersReads 4 of these genesPKLRGPIHK1TPI1About this report →
- Activated PI3K-Delta Syndrome (APDS)Reads 2 of these genesPIK3CDPIK3R1About this report →
- Cowden Syndrome (PTEN hamartoma tumour syndrome)Reads 2 of these genesAKT1PTENAbout this report →
- Kabuki SyndromeReads 2 of these genesKDM6AKMT2DAbout this report →
- Niemann-Pick Disease Type CReads 2 of these genesNPC1NPC2About this report →
- Congenital Disorders of GlycosylationReads 14 of these genesALG1ALG9COG7PIGASLC37A4ATP6AP1About this report →
- Hereditary Methaemoglobinaemia and Unstable HaemoglobinsReads 3 of these genesHBBHBA1HBA2About this report →
- Familial Pulmonary FibrosisReads 4 of these genesPOT1PARNRTEL1TERTAbout this report →
- Noonan SyndromeReads 6 of these genesBRAFKRASMAP2K1MAP2K2CBLNRASAbout this report →
- HemochromatosisReads 3 of these genesHFEHAMPHJVAbout this report →
- Systemic Lupus ErythematosusReads 3 of these genesPRKCDDNASE1L3TREX1About this report →
- Polycystic Kidney DiseaseReads 4 of these genesALG9DZIP1LPKHD1NEK8About this report →
- EBV-Driven Lymphoproliferation and CARD11 Immune DysregulationReads 2 of these genesCARD11CD27About this report →
- Immuno-Osseous DysplasiasReads 2 of these genesRMRPRNU4ATACAbout this report →
- Neuroacanthocytosis and Huntington Disease PhenocopiesReads 2 of these genesXKVPS13AAbout this report →
- Hereditary Sideroblastic AnaemiasReads 3 of these genesTRNT1ALAS2GLRX5About this report →
- Glycogen Storage DiseaseReads 4 of these genesSLC37A4PHKA2PHKBPHKG2About this report →
- Primary Lymphoedema & Lymphatic MalformationsReads 4 of these genesADAMTS3CCBE1FAT4PIEZO1About this report →
- Inherited Platelet Function DisordersReads 3 of these genesNBEAL2GP1BBGP1BAAbout this report →
- Inherited Predisposition to Myeloid Blood CancersReads 2 of these genesGATA2SAMD9LAbout this report →
- 22q11.2 Deletion SyndromeReads 1 of these genesTBX1About this report →
- Acid Sphingomyelinase Deficiency (Niemann-Pick Disease Types A and B)Reads 1 of these genesSMPD1About this report →
- Alpha-1 Antitrypsin DeficiencyReads 1 of these genesSERPINA1About this report →
- Ataxia-TelangiectasiaReads 1 of these genesATMAbout this report →
- CHARGE SyndromeReads 1 of these genesCHD7About this report →
- Chediak-Higashi syndromeReads 1 of these genesLYSTAbout this report →
- CystinosisReads 1 of these genesCTNSAbout this report →
- Deficiency of Adenosine Deaminase 2 (DADA2)Reads 1 of these genesADA2About this report →
- Dyschromatosis Symmetrica HereditariaReads 1 of these genesADARAbout this report →
- Familial Mediterranean FeverReads 1 of these genesMEFVAbout this report →
- G6PD DeficiencyReads 1 of these genesG6PDAbout this report →
- Gaucher DiseaseReads 1 of these genesGBA1About this report →
- GM1 Gangliosidosis and Morquio B SyndromeReads 1 of these genesGLB1About this report →
- Hajdu-Cheney SyndromeReads 1 of these genesNOTCH2About this report →
- Johanson-Blizzard SyndromeReads 1 of these genesUBR1About this report →
- Li-Fraumeni SyndromeReads 1 of these genesTP53About this report →
- Low phospholipid-associated cholelithiasisReads 1 of these genesABCB4About this report →
- Lysosomal Acid Lipase Deficiency (Wolman Disease and CESD)Reads 1 of these genesLIPAAbout this report →
- Mucopolysaccharidosis Type I (Hurler and Scheie Syndromes)Reads 1 of these genesIDUAAbout this report →
- Mucopolysaccharidosis Type II (Hunter Syndrome)Reads 1 of these genesIDSAbout 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 →
- Pompe DiseaseReads 1 of these genesGAAAbout this report →
- Salla Disease and Free Sialic Acid Storage DiseaseReads 1 of these genesSLC17A5About this report →
- Sickle Cell DiseaseReads 1 of these genesHBBAbout this report →
- Smith-Lemli-Opitz SyndromeReads 1 of these genesDHCR7About this report →
- TrimethylaminuriaReads 1 of these genesFMO3About this report →
- Wilson DiseaseReads 1 of these genesATP7BAbout this report →
- Joubert Syndrome And Related DisordersReads 6 of these genesCC2D2ACSPP1INPP5ERPGRIP1LTMEM67MKS1About this report →
- Meckel SyndromeReads 3 of these genesRPGRIP1LTMEM67MKS1About this report →
- Nephronophthisis and Senior-Løken SyndromeReads 4 of these genesDCDC2NPHP3NEK8TMEM67About this report →
- Inflammatory Bowel Diseases (IBD)Reads 2 of these genesIL10TGFB1About this report →
- Peroxisomal Enzyme Disorders & Refsum DiseaseReads 2 of these genesPHYHHSD17B4About this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 6 of these genesSCYL1CC2D2ACSPP1SNX14TMEM67MKS1About this report →
- Charcot-Marie-Tooth DiseaseReads 7 of these genesITPR3LMNAMPV17YARS1BSCL2HK1About this report →
- Other Inherited LeukodystrophiesReads 7 of these genesPSAPIFIH1PEX7ADARTREX1PEX2About this report →
- Hereditary HypolipoproteinemiasReads 2 of these genesLCATABCA1About this report →
- Hereditary Rickets (Hypophosphatemic and Vitamin D-Dependent)Reads 2 of these genesCYP27B1CYP2R1About this report →
- Acrodermatitis EnteropathicaReads 1 of these genesSLC39A4About this report →
- Alagille SyndromeReads 1 of these genesNOTCH2About this report →
- Biotinidase & Holocarboxylase DeficiencyReads 1 of these genesBTDAbout this report →
- Hereditary Manganese Transporter DisordersReads 1 of these genesSLC30A10About this report →
- Hereditary Von Willebrand DiseaseReads 1 of these genesGP1BAAbout this report →
- Metachromatic LeukodystrophyReads 1 of these genesPSAPAbout this report →
- Rare Inherited Megaloblastic AnaemiasReads 1 of these genesUMPSAbout this report →
- Severe Inherited Insulin ResistanceReads 1 of these genesINSRAbout this report →
- STAT1 and STAT3 Gain-of-Function DiseaseReads 1 of these genesSTAT1About this report →
- Wiskott-Aldrich Syndrome SpectrumReads 1 of these genesWASAbout this report →
- Hypertrophic CardiomyopathyReads 5 of these genesBRAFKRASMAP2K1MAP2K2NRASAbout this report →
- Agammaglobulinaemia (XLA and Autosomal Forms)Reads 2 of these genesPIK3R1TCF3About this report →
- Bardet-Biedl and Alström SyndromesReads 3 of these genesALMS1IFT172MKS1About this report →
- Hermansky-Pudlak SyndromeReads 2 of these genesAP3B1AP3D1About this report →
- HyperinsulinismReads 2 of these genesINSRHK1About this report →
- Urea Cycle DisorderReads 2 of these genesOTCSLC7A7About this report →
- Congenital AfibrinogenemiaReads 1 of these genesFGAAbout this report →
- Disorder of Copper MetabolismReads 1 of these genesATP7BAbout this report →
- Griscelli SyndromeReads 1 of these genesRAB27AAbout this report →
- HaemophiliaReads 1 of these genesF8About this report →
- Leukocyte Adhesion DeficiencyReads 1 of these genesFERMT3About this report →
- Mucolipidoses (ML II, ML III and ML IV)Reads 1 of these genesGNPTABAbout this report →
- TyrosinemiaReads 1 of these genesFAHAbout this report →
- Zellweger Spectrum & Peroxisome Biogenesis DisordersReads 2 of these genesPEX7PEX2About this report →
- Familial Paget Disease of BoneReads 1 of these genesTNFRSF11AAbout this report →
- GalactosemiaReads 1 of these genesGALEAbout this report →
- Hyper-IgM SyndromesReads 1 of these genesCD40LGAbout this report →
- MelanomaReads 1 of these genesPOT1About this report →
- PorokeratosisReads 1 of these genesMVKAbout this report →
- Hereditary Corneal DystrophiesReads 2 of these genesNLRP1TCF4About this report →
- DNA Repair DiseaseReads 3 of these genesDCLRE1CERCC6ERCC8About this report →
- Retinitis PigmentosaReads 4 of these genesCC2D2AHGSNATHK1IFT172About this report →
- Neonatal Diabetes MellitusReads 2 of these genesGLIS3BSCL2About this report →
- Alzheimer diseaseReads 1 of these genesAPOEAbout this report →
- Chronic Mucocutaneous CandidiasisReads 1 of these genesSTAT1About this report →
- PancreatitisReads 1 of these genesTRPV6About this report →
- Sclerosing Bone Dysplasias (High Bone Mass)Reads 1 of these genesTGFB1About this report →
- Hereditary Visceral Myopathy, CIPO & MMIHSReads 1 of these genesERBB3About this report →
- Heritable Pulmonary Arterial Hypertension (HPAH)Reads 1 of these genesCAV1About this report →
- Renal Tubular AcidosisReads 1 of these genesSLC4A1About this report →
- Intellectual DisabilityReads 6 of these genesCASKTCF4ASXL1ATRXJMJD1CMED12About this report →
- Spinal Muscular AtrophyReads 2 of these genesASAH1BSCL2About this report →
- Ellis-van Creveld Syndrome and Cranioectodermal DysplasiaReads 1 of these genesWDR35About this report →
- Inherited Parathyroid & Calcium-Sensing DisordersReads 1 of these genesCASRAbout this report →
- Waardenburg SyndromeReads 1 of these genesSOX10About this report →
- Hereditary Spastic ParaplegiaReads 3 of these genesCYP7B1RINT1BSCL2About this report →
- Leigh SyndromeReads 3 of these genesCOX10NDUFS4BTDAbout this report →
- Diabetes MellitusReads 2 of these genesGLIS3BSCL2About this report →
- Thyroid CancerReads 2 of these genesCASRTRPV6About this report →
- Malignant Endocrine NeoplasmReads 1 of these genesTP53About this report →
- Progressive Cardiac Conduction Disease & Sick Sinus SyndromeReads 1 of these genesLMNAAbout this report →
- Limb-Girdle Muscular DystrophyReads 2 of these genesLMNATNPO3About this report →
- Primary Mitochondrial DiseaseReads 4 of these genesDGUOKCOX10MPV17NDUFS4About this report →
- Breast and Ovarian Cancer Genes Beyond BRCA1/2Reads 1 of these genesATMAbout this report →
- Kidney CancerReads 1 of these genesTP53About this report →
- ThrombophiliaReads 1 of these genesF5About this report →
- Rare Inherited Coagulation Factor DeficienciesReads 1 of these genesF5About this report →
- Familial HypomagnesemiaReads 1 of these genesTRPV6About this report →
- Epilepsy (Full Panel)Reads 4 of these genesPIGASLC2A1SCARB2ATP6V1B2About this report →
- Hereditary AmyloidosisReads 1 of these genesFGAAbout this report →
- Urinary and Renal System TumourReads 1 of these genesTP53About this report →
- Congenital Diarrhoeas & EnteropathiesReads 1 of these genesMYO5BAbout this report →
- Inherited Congenital Heart DefectsReads 1 of these genesNOTCH1About this report →
- Female InfertilityReads 2 of these genesATMHSD17B4About this report →
- Diamond-Blackfan AnemiaReads 1 of these genesGATA1About this report →
- Methylmalonic & Propionic AcidemiaReads 1 of these genesMMUTAbout this report →
- Parkinson DiseaseReads 1 of these genesGBA1About this report →
- Inherited Complement and Properdin DeficienciesReads 1 of these genesC4AAbout this report →
- Ectodermal DysplasiasReads 1 of these genesNFKBIAAbout this report →
- 46,XY Differences of Sex Development and Gonadal DysgenesisReads 1 of these genesATRXAbout this report →
- Distal MyopathiesReads 1 of these genesGNEAbout this report →
- GPI Anchor Biosynthesis DefectsReads 1 of these genesPIGAAbout this report →
- Syndromic CraniosynostosisReads 1 of these genesWDR35About this report →
- Inherited IchthyosesReads 1 of these genesCLDN1About this report →
- VitreoretinopathyReads 1 of these genesCTC1About this report →
- Osteogenesis ImperfectaReads 1 of these genesIFIH1About this report →
- Hereditary Palmoplantar Keratodermas and Pachyonychia CongenitaReads 1 of these genesNLRP1About this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 1 of these genesSLC2A1About this report →
- Dilated CardiomyopathyReads 1 of these genesLMNAAbout this report →
- Hypogonadotropic HypogonadismReads 1 of these genesCHD7About this report →
Læs de gener, der er knyttet til Increased spleen size, og resten af dit genom, med én test.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger
Bestil min Genome Test442 gener knyttet til Increased spleen size
Ændringer i disse gener forårsager sjældne tilstande, hvor Increased spleen size 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 |
|---|---|---|
| ABCB11ATP binding cassette subfamily B member 11 | Altid | I 2 tilstande |
| ABCB4ATP binding cassette subfamily B member 4 | Altid | I 1 tilstand |
| ABCD3ATP binding cassette subfamily D member 3 | Altid | I 1 tilstand |
| ABCG8ATP binding cassette subfamily G member 8 | Altid | I 2 tilstande |
| ALDOAaldolase, fructose-bisphosphate A | Altid | I 1 tilstand |
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Altid | I 1 tilstand |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Altid | I 1 tilstand |
| AP3B1adaptor related protein complex 3 subunit beta 1 | Altid | I 1 tilstand |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Altid | I 1 tilstand |
| APOC2apolipoprotein C2 | Altid | I 1 tilstand |
| APOEapolipoprotein E | Altid | I 1 tilstand |
| ARID2AT-rich interaction domain 2 | Altid | I 1 tilstand |
| ARPC5actin related protein 2/3 complex subunit 5 | Altid | I 1 tilstand |
| ATP7BATPase copper transporting beta | Altid | I 2 tilstande |
| ATP8B1ATPase phospholipid transporting 8B1 | Altid | I 2 tilstande |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Altid | I 1 tilstand |
| CALRcalreticulin | Altid | I 5 tilstande |
| CARD11caspase recruitment domain family member 11 | Altid | I 1 tilstand |
| CASP10caspase 10 | Altid | I 2 tilstande |
| CASP8caspase 8 | Altid | I 1 tilstand |
| CD27CD27 molecule | Altid | I 1 tilstand |
| COG7component of oligomeric golgi complex 7 | Altid | I 1 tilstand |
| CR2complement C3d receptor 2 | Altid | I 2 tilstande |
| CSF3Rcolony stimulating factor 3 receptor | Altid | I 1 tilstand |
| CYBC1cytochrome b-245 chaperone 1 | Altid | I 2 tilstande |
| CYP7B1cytochrome P450 family 7 subfamily B member 1 | Altid | I 1 tilstand |
| DCDC2doublecortin domain containing 2 | Altid | I 2 tilstande |
| DCLRE1CDNA cross-link repair 1C | Altid | I 3 tilstande |
| DGUOKdeoxyguanosine kinase | Altid | I 2 tilstande |
| DHCR77-dehydrocholesterol reductase | Altid | I 1 tilstand |
| EPB42erythrocyte membrane protein band 4.2 | Altid | I 2 tilstande |
| F8coagulation factor VIII | Altid | I 1 tilstand |
| GBA1glucosylceramidase beta 1 | Altid | I 9 tilstande |
| GIMAP5GTPase, IMAP family member 5 | Altid | I 1 tilstand |
| GPIHBP1glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 | Altid | I 1 tilstand |
| HBBhemoglobin subunit beta | Altid | I 10 tilstande |
| HCKHCK proto-oncogene, Src family tyrosine kinase | Altid | I 1 tilstand |
| IDSiduronate 2-sulfatase | Altid | I 1 tilstand |
| IRF8interferon regulatory factor 8 | Altid | I 1 tilstand |
| ITKIL2 inducible T cell kinase | Altid | I 1 tilstand |
Vis 402 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Altid | I 1 tilstand |
| JAK2Janus kinase 2 | Altid | I 8 tilstande |
| KCNN4potassium calcium-activated channel subfamily N member 4 | Altid | I 2 tilstande |
| KLF1KLF transcription factor 1 | Altid | I 4 tilstande |
| KRASKRas proto-oncogene, GTPase | Altid | I 1 tilstand |
| LATlinker for activation of T cells | Altid | I 1 tilstand |
| LIPAlipase A, lysosomal acid type | Altid | I 4 tilstande |
| LMNAlamin A/C | Altid | I 3 tilstande |
| LYNLYN proto-oncogene, Src family tyrosine kinase | Altid | I 1 tilstand |
| MAGT1magnesium transporter 1 | Altid | I 1 tilstand |
| MAP2K1mitogen-activated protein kinase kinase 1 | Altid | I 2 tilstande |
| MAP2K2mitogen-activated protein kinase kinase 2 | Altid | I 1 tilstand |
| MPLMPL proto-oncogene, thrombopoietin receptor | Altid | I 4 tilstande |
| NFKBIANFKB inhibitor alpha | Altid | I 1 tilstand |
| NHEJ1non-homologous end joining factor 1 | Altid | I 1 tilstand |
| NLRC4NLR family CARD domain containing 4 | Altid | I 1 tilstand |
| OAS12'-5'-oligoadenylate synthetase 1 | Altid | I 1 tilstand |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Altid | I 2 tilstande |
| PDCD1programmed cell death 1 | Altid | I 1 tilstand |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Altid | I 2 tilstande |
| PIK3CGphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | Altid | I 1 tilstand |
| PKLRpyruvate kinase L/R | Altid | I 2 tilstande |
| PLEKHM1pleckstrin homology and RUN domain containing M1 | Altid | I 1 tilstand |
| POLD3DNA polymerase delta 3, accessory subunit | Altid | I 1 tilstand |
| POT1protection of telomeres 1 | Altid | I 1 tilstand |
| PSAPprosaposin | Altid | I 3 tilstande |
| PSKH1protein serine kinase H1 | Altid | I 1 tilstand |
| PSMG2proteasome assembly chaperone 2 | Altid | I 1 tilstand |
| PTCRApre T cell antigen receptor alpha | Altid | I 1 tilstand |
| RASGRP1RAS guanyl releasing protein 1 | Altid | I 1 tilstand |
| RC3H1ring finger and CCCH-type domains 1 | Altid | I 1 tilstand |
| RFXAPregulatory factor X associated protein | Altid | I 1 tilstand |
| RNF31ring finger protein 31 | Altid | I 1 tilstand |
| SCYL1SCY1 like pseudokinase 1 | Altid | I 1 tilstand |
| SERPINA1serpin family A member 1 | Altid | I 1 tilstand |
| SH2B3SH2B adaptor protein 3 | Altid | I 4 tilstande |
| SLC2A1solute carrier family 2 member 1 | Altid | I 2 tilstande |
| SLC37A4solute carrier family 37 member 4 | Altid | I 2 tilstande |
| SLC4A1solute carrier family 4 member 1 (Diego blood group) | Altid | I 5 tilstande |
| SPIN4spindlin family member 4 | Altid | I 1 tilstand |
| SPTBspectrin beta, erythrocytic | Altid | I 3 tilstande |
| STX11syntaxin 11 | Altid | I 2 tilstande |
| STXBP2syntaxin binding protein 2 | Altid | I 2 tilstande |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Altid | I 2 tilstande |
| TNFRSF9TNF receptor superfamily member 9 | Altid | I 1 tilstand |
| TRAF3TNF receptor associated factor 3 | Altid | I 1 tilstand |
| UBR1ubiquitin protein ligase E3 component n-recognin 1 | Altid | I 1 tilstand |
| UROSuroporphyrinogen III synthase | Altid | I 2 tilstande |
| VPS45vacuolar protein sorting 45 homolog | Altid | I 1 tilstand |
| WASWASP actin nucleation promoting factor | Altid | I 1 tilstand |
| ADA2adenosine deaminase 2 | Meget ofte (80–99 %) | I 1 tilstand |
| ALPK1alpha kinase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| ARSBarylsulfatase B | Meget ofte (80–99 %) | I 1 tilstand |
| CASKcalcium/calmodulin dependent serine protein kinase | Meget ofte (80–99 %) | I 1 tilstand |
| CASRcalcium sensing receptor | Meget ofte (80–99 %) | I 2 tilstande |
| CLCN7Cl-/H+ antiporter 7 | Meget ofte (80–99 %) | I 3 tilstande |
| CLDN1claudin 1 | Meget ofte (80–99 %) | I 2 tilstande |
| F5coagulation factor V | Meget ofte (80–99 %) | I 1 tilstand |
| FASFas cell surface death receptor | Meget ofte (80–99 %) | I 3 tilstande |
| FASLGFas ligand | Meget ofte (80–99 %) | I 2 tilstande |
| G6PDglucose-6-phosphate dehydrogenase | Meget ofte (80–99 %) | I 1 tilstand |
| GATA1GATA binding protein 1 | Meget ofte (80–99 %) | I 3 tilstande |
| GLB1galactosidase beta 1 | Meget ofte (80–99 %) | I 1 tilstand |
| GPC3glypican 3 | Meget ofte (80–99 %) | I 2 tilstande |
| GPC4glypican 4 | Meget ofte (80–99 %) | I 1 tilstand |
| HBG1hemoglobin subunit gamma 1 | Meget ofte (80–99 %) | I 2 tilstande |
| HBG2hemoglobin subunit gamma 2 | Meget ofte (80–99 %) | I 2 tilstande |
| IDUAalpha-L-iduronidase | Meget ofte (80–99 %) | I 5 tilstande |
| LRBALPS responsive beige-like anchor protein | Meget ofte (80–99 %) | I 1 tilstand |
| MVKmevalonate kinase | Meget ofte (80–99 %) | I 2 tilstande |
| NEU1neuraminidase 1 | Meget ofte (80–99 %) | I 2 tilstande |
| NLRP3NLR family pyrin domain containing 3 | Meget ofte (80–99 %) | I 2 tilstande |
| OTCornithine transcarbamylase | Meget ofte (80–99 %) | I 1 tilstand |
| PRF1perforin 1 | Meget ofte (80–99 %) | I 2 tilstande |
| RAB27ARAB27A, member RAS oncogene family | Meget ofte (80–99 %) | I 1 tilstand |
| RAG1recombination activating 1 | Meget ofte (80–99 %) | I 3 tilstande |
| SCARB2scavenger receptor class B member 2 | Meget ofte (80–99 %) | I 1 tilstand |
| SMPD1sphingomyelin phosphodiesterase 1 | Meget ofte (80–99 %) | I 3 tilstande |
| SNX10sorting nexin 10 | Meget ofte (80–99 %) | I 2 tilstande |
| SUMF1sulfatase modifying factor 1 | Meget ofte (80–99 %) | I 2 tilstande |
| TLR8toll like receptor 8 | Meget ofte (80–99 %) | I 1 tilstand |
| TNFSF11TNF superfamily member 11 | Meget ofte (80–99 %) | I 1 tilstand |
| TRPV6transient receptor potential cation channel subfamily V member 6 | Meget ofte (80–99 %) | I 1 tilstand |
| USB1U6 snRNA biogenesis phosphodiesterase 1 | Meget ofte (80–99 %) | I 2 tilstande |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Meget ofte (80–99 %) | I 1 tilstand |
| XIAPX-linked inhibitor of apoptosis | Meget ofte (80–99 %) | I 3 tilstande |
| ABCG5ATP binding cassette subfamily G member 5 | Ofte (30–79 %) | I 1 tilstand |
| ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase | Ofte (30–79 %) | I 1 tilstand |
| ADAadenosine deaminase | Ofte (30–79 %) | I 2 tilstande |
| ADAMTS3ADAM metallopeptidase with thrombospondin type 1 motif 3 | Ofte (30–79 %) | I 1 tilstand |
| AFF4ALF transcription elongation factor 4 | Ofte (30–79 %) | I 1 tilstand |
| ANK1ankyrin 1 | Ofte (30–79 %) | I 3 tilstande |
| ATMATM serine/threonine kinase | Ofte (30–79 %) | I 1 tilstand |
| ATP6AP1ATPase H+ transporting accessory protein 1 | Ofte (30–79 %) | I 1 tilstand |
| BCL2BCL2 apoptosis regulator | Ofte (30–79 %) | I 1 tilstand |
| BCL6BCL6 transcription repressor | Ofte (30–79 %) | I 1 tilstand |
| BCRBCR activator of RhoGEF and GTPase | Ofte (30–79 %) | I 1 tilstand |
| CAVIN1caveolae associated protein 1 | Ofte (30–79 %) | I 1 tilstand |
| CBLCbl proto-oncogene | Ofte (30–79 %) | I 1 tilstand |
| CCBE1collagen and calcium binding EGF domains 1 | Ofte (30–79 %) | I 1 tilstand |
| CCDC47coiled-coil domain containing 47 | Ofte (30–79 %) | I 1 tilstand |
| CCND1cyclin D1 | Ofte (30–79 %) | I 2 tilstande |
| CD28CD28 molecule | Ofte (30–79 %) | I 2 tilstande |
| CD4CD4 molecule | Ofte (30–79 %) | I 1 tilstand |
| CHD7chromodomain helicase DNA binding protein 7 | Ofte (30–79 %) | I 1 tilstand |
| COG6component of oligomeric golgi complex 6 | Ofte (30–79 %) | I 1 tilstand |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Ofte (30–79 %) | I 1 tilstand |
| COX4I2cytochrome c oxidase subunit 4I2 | Ofte (30–79 %) | I 1 tilstand |
| CTLA4cytotoxic T-lymphocyte associated protein 4 | Ofte (30–79 %) | I 4 tilstande |
| DOCK11dedicator of cytokinesis 11 | Ofte (30–79 %) | I 1 tilstand |
| DZIP1LDAZ interacting zinc finger protein 1 like | Ofte (30–79 %) | I 1 tilstand |
| FAHfumarylacetoacetate hydrolase | Ofte (30–79 %) | I 2 tilstande |
| FAT4FAT atypical cadherin 4 | Ofte (30–79 %) | I 1 tilstand |
| FCHO1FCH and mu domain containing endocytic adaptor 1 | Ofte (30–79 %) | I 1 tilstand |
| FERMT3FERM domain containing kindlin 3 | Ofte (30–79 %) | I 1 tilstand |
| FOCADfocadhesin | Ofte (30–79 %) | I 1 tilstand |
| GATA2GATA binding protein 2 | Ofte (30–79 %) | I 1 tilstand |
| GEMIN4gem nuclear organelle associated protein 4 | Ofte (30–79 %) | I 1 tilstand |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Ofte (30–79 %) | I 1 tilstand |
| GNSglucosamine (N-acetyl)-6-sulfatase | Ofte (30–79 %) | I 1 tilstand |
| GPD1glycerol-3-phosphate dehydrogenase 1 | Ofte (30–79 %) | I 1 tilstand |
| GPIglucose-6-phosphate isomerase | Ofte (30–79 %) | I 2 tilstande |
| GPR35G protein-coupled receptor 35 | Ofte (30–79 %) | I 1 tilstand |
| GUSBglucuronidase beta | Ofte (30–79 %) | I 2 tilstande |
| HBA1hemoglobin subunit alpha 1 | Ofte (30–79 %) | I 2 tilstande |
| HBA2hemoglobin subunit alpha 2 | Ofte (30–79 %) | I 2 tilstande |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Ofte (30–79 %) | I 3 tilstande |
| HMBShydroxymethylbilane synthase | Ofte (30–79 %) | I 1 tilstand |
| HSD3B7hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | Ofte (30–79 %) | I 2 tilstande |
| IFIH1interferon induced with helicase C domain 1 | Ofte (30–79 %) | I 1 tilstand |
| IFT56intraflagellar transport 56 | Ofte (30–79 %) | I 1 tilstand |
| IGHimmunoglobulin heavy locus | Ofte (30–79 %) | I 2 tilstande |
| IKZF3IKAROS family zinc finger 3 | Ofte (30–79 %) | I 1 tilstand |
| IL2RGinterleukin 2 receptor subunit gamma | Ofte (30–79 %) | I 1 tilstand |
| IL7Rinterleukin 7 receptor | Ofte (30–79 %) | I 2 tilstande |
| INSRinsulin receptor | Ofte (30–79 %) | I 1 tilstand |
| IRF1interferon regulatory factor 1 | Ofte (30–79 %) | I 1 tilstand |
| IRF4interferon regulatory factor 4 | Ofte (30–79 %) | I 2 tilstande |
| LPIN2lipin 2 | Ofte (30–79 %) | I 1 tilstand |
| LYSTlysosomal trafficking regulator | Ofte (30–79 %) | I 2 tilstande |
| MMUTmethylmalonyl-CoA mutase | Ofte (30–79 %) | I 1 tilstand |
| MPIG6Bmegakaryocyte and platelet inhibitory receptor G6b | Ofte (30–79 %) | I 1 tilstand |
| MPV17mitochondrial inner membrane protein MPV17 | Ofte (30–79 %) | I 1 tilstand |
| MST1macrophage stimulating 1 | Ofte (30–79 %) | I 1 tilstand |
| NAE1NEDD8 activating enzyme E1 subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| NBEAL2neurobeachin like 2 | Ofte (30–79 %) | I 2 tilstande |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Ofte (30–79 %) | I 1 tilstand |
| NLRP1NLR family pyrin domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| NLRP12NLR family pyrin domain containing 12 | Ofte (30–79 %) | I 1 tilstand |
| NPC1NPC intracellular cholesterol transporter 1 | Ofte (30–79 %) | I 1 tilstand |
| NPC2NPC intracellular cholesterol transporter 2 | Ofte (30–79 %) | I 1 tilstand |
| NPHP3nephrocystin 3 | Ofte (30–79 %) | I 2 tilstande |
| NRASNRAS proto-oncogene, GTPase | Ofte (30–79 %) | I 2 tilstande |
| NUDCD3NudC domain containing 3 | Ofte (30–79 %) | I 1 tilstand |
| PEPDpeptidase D | Ofte (30–79 %) | I 2 tilstande |
| PEX7peroxisomal biogenesis factor 7 | Ofte (30–79 %) | I 1 tilstand |
| PHYHphytanoyl-CoA 2-hydroxylase | Ofte (30–79 %) | I 1 tilstand |
| PIEZO1piezo type mechanosensitive ion channel component 1 (Er blood group) | Ofte (30–79 %) | I 3 tilstande |
| PIGMphosphatidylinositol glycan anchor biosynthesis class M | Ofte (30–79 %) | I 1 tilstand |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Ofte (30–79 %) | I 2 tilstande |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Ofte (30–79 %) | I 2 tilstande |
| PKHD1PKHD1 ciliary IPT domain containing fibrocystin/polyductin | Ofte (30–79 %) | I 3 tilstande |
| PRKCDprotein kinase C delta | Ofte (30–79 %) | I 1 tilstand |
| PSMB10proteasome 20S subunit beta 10 | Ofte (30–79 %) | I 1 tilstand |
| PSMB8proteasome 20S subunit beta 8 | Ofte (30–79 %) | I 1 tilstand |
| PSMB9proteasome 20S subunit beta 9 | Ofte (30–79 %) | I 1 tilstand |
| RAG2recombination activating 2 | Ofte (30–79 %) | I 2 tilstande |
| RBCK1RANBP2-type and C3HC4-type zinc finger containing 1 | Ofte (30–79 %) | I 1 tilstand |
| RBSNrabenosyn, RAB effector | Ofte (30–79 %) | I 1 tilstand |
| RFX5regulatory factor X5 | Ofte (30–79 %) | I 1 tilstand |
| RINT1RAD50 interactor 1 | Ofte (30–79 %) | I 1 tilstand |
| RIPK1receptor interacting serine/threonine kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Ofte (30–79 %) | I 1 tilstand |
| RUNX1RUNX family transcription factor 1 | Ofte (30–79 %) | I 1 tilstand |
| SAMD9Lsterile alpha motif domain containing 9 like | Ofte (30–79 %) | I 1 tilstand |
| SEMA4Dsemaphorin 4D | Ofte (30–79 %) | I 1 tilstand |
| SH2D1ASH2 domain containing 1A | Ofte (30–79 %) | I 1 tilstand |
| SHARPINSHANK associated RH domain interactor | Ofte (30–79 %) | I 1 tilstand |
| SLC19A1solute carrier family 19 member 1 | Ofte (30–79 %) | I 1 tilstand |
| SLC29A3solute carrier family 29 member 3 | Ofte (30–79 %) | I 1 tilstand |
| SLC30A10solute carrier family 30 member 10 | Ofte (30–79 %) | I 1 tilstand |
| SPTA1spectrin alpha, erythrocytic 1 | Ofte (30–79 %) | I 2 tilstande |
| STAT1signal transducer and activator of transcription 1 | Ofte (30–79 %) | I 1 tilstand |
| STEAP3STEAP3 metalloreductase | Ofte (30–79 %) | I 1 tilstand |
| STIM1stromal interaction molecule 1 | Ofte (30–79 %) | I 1 tilstand |
| SYKspleen associated tyrosine kinase | Ofte (30–79 %) | I 1 tilstand |
| TCF3transcription factor 3 | Ofte (30–79 %) | I 1 tilstand |
| TCF4transcription factor 4 | Ofte (30–79 %) | I 1 tilstand |
| TET2tet methylcytosine dioxygenase 2 | Ofte (30–79 %) | I 4 tilstande |
| THPOthrombopoietin | Ofte (30–79 %) | I 2 tilstande |
| TNFRSF11ATNF receptor superfamily member 11a | Ofte (30–79 %) | I 1 tilstand |
| TNFRSF1ATNF receptor superfamily member 1A | Ofte (30–79 %) | I 1 tilstand |
| TNFRSF1BTNF receptor superfamily member 1B | Ofte (30–79 %) | I 2 tilstande |
| TP53tumor protein p53 | Ofte (30–79 %) | I 1 tilstand |
| TPP2tripeptidyl peptidase 2 | Ofte (30–79 %) | I 1 tilstand |
| TRACT cell receptor alpha constant | Ofte (30–79 %) | I 1 tilstand |
| TRNT1tRNA nucleotidyl transferase 1 | Ofte (30–79 %) | I 1 tilstand |
| UMPSuridine monophosphate synthetase | Ofte (30–79 %) | I 1 tilstand |
| UNC13Dunc-13 homolog D | Ofte (30–79 %) | I 1 tilstand |
| USP53ubiquitin specific peptidase 53 | Ofte (30–79 %) | I 1 tilstand |
| VPS33BVPS33B late endosome and lysosome associated | Ofte (30–79 %) | I 1 tilstand |
| XKX-linked Kx blood group antigen, Kell and VPS13A binding protein | Ofte (30–79 %) | I 1 tilstand |
| YARS1tyrosyl-tRNA synthetase 1 | Ofte (30–79 %) | I 1 tilstand |
| YME1L1YME1 like 1 ATPase | Ofte (30–79 %) | I 1 tilstand |
| ZFYVE19zinc finger FYVE-type containing 19 | Ofte (30–79 %) | I 1 tilstand |
| ACDACD shelterin complex subunit and telomerase recruitment factor | Nogle gange (5–29 %) | I 1 tilstand |
| ADARadenosine deaminase RNA specific | Nogle gange (5–29 %) | I 1 tilstand |
| AGAaspartylglucosaminidase | Nogle gange (5–29 %) | I 1 tilstand |
| AKT1AKT serine/threonine kinase 1 | Nogle gange (5–29 %) | I 2 tilstande |
| ALAS25'-aminolevulinate synthase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ALMS1ALMS1 centrosome and basal body associated protein | Nogle gange (5–29 %) | I 1 tilstand |
| ARVCFARVCF delta catenin family member | Nogle gange (5–29 %) | I 1 tilstand |
| ASXL1ASXL transcriptional regulator 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Nogle gange (5–29 %) | I 1 tilstand |
| ATRXATRX chromatin remodeler | Nogle gange (5–29 %) | I 1 tilstand |
| B4GALT1beta-1,4-galactosyltransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| BCL11ABCL11 transcription factor A | Nogle gange (5–29 %) | I 1 tilstand |
| BMP6bone morphogenetic protein 6 | Nogle gange (5–29 %) | I 1 tilstand |
| C4Acomplement C4A (Chido/Rodgers blood group) | Nogle gange (5–29 %) | I 1 tilstand |
| CC2D2Acoiled-coil and C2 domain containing 2A | Nogle gange (5–29 %) | I 1 tilstand |
| CCR1C-C motif chemokine receptor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CFAP410cilia and flagella associated protein 410 | Nogle gange (5–29 %) | I 1 tilstand |
| CILK1ciliogenesis associated kinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CLPBClpB family mitochondrial disaggregase | Nogle gange (5–29 %) | I 1 tilstand |
| COG4component of oligomeric golgi complex 4 | Nogle gange (5–29 %) | I 1 tilstand |
| COMTcatechol-O-methyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| CSPP1centrosome and spindle pole associated protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CTC1CST telomere replication complex component 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CYBAcytochrome b-245 alpha chain | Nogle gange (5–29 %) | I 2 tilstande |
| CYBBcytochrome b-245 beta chain | Nogle gange (5–29 %) | I 2 tilstande |
| CYP27B1cytochrome P450 family 27 subfamily B member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CYP2R1cytochrome P450 family 2 subfamily R member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DHCR2424-dehydrocholesterol reductase | Nogle gange (5–29 %) | I 1 tilstand |
| DHRSXdehydrogenase/reductase X-linked | Nogle gange (5–29 %) | I 1 tilstand |
| DKC1dyskerin pseudouridine synthase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DNASE1L3deoxyribonuclease 1L3 | Nogle gange (5–29 %) | I 1 tilstand |
| EPB41erythrocyte membrane protein band 4.1 | Nogle gange (5–29 %) | I 2 tilstande |
| ERAP1endoplasmic reticulum aminopeptidase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GLIS3GLIS family zinc finger 3 | Nogle gange (5–29 %) | I 1 tilstand |
| GP1BBglycoprotein Ib platelet subunit beta | Nogle gange (5–29 %) | I 1 tilstand |
| GYPCglycophorin C (Gerbich blood group) | Nogle gange (5–29 %) | I 1 tilstand |
| HFEhomeostatic iron regulator | Nogle gange (5–29 %) | I 2 tilstande |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| HIRAhistone cell cycle regulator | Nogle gange (5–29 %) | I 1 tilstand |
| HLA-Bmajor histocompatibility complex, class I, B | Nogle gange (5–29 %) | I 1 tilstand |
| HPGD15-hydroxyprostaglandin dehydrogenase | Nogle gange (5–29 %) | I 1 tilstand |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Nogle gange (5–29 %) | I 1 tilstand |
| IFNGR1interferon gamma receptor 1 | Nogle gange (5–29 %) | I 2 tilstande |
| IL10interleukin 10 | Nogle gange (5–29 %) | I 1 tilstand |
| IL12Ainterleukin 12A | Nogle gange (5–29 %) | I 2 tilstande |
| IL12A-AS1IL12A antisense RNA 1 | Nogle gange (5–29 %) | I 1 tilstand |
| IL12RB1interleukin 12 receptor subunit beta 1 | Nogle gange (5–29 %) | I 1 tilstand |
| IL23Rinterleukin 23 receptor | Nogle gange (5–29 %) | I 1 tilstand |
| IL6interleukin 6 | Nogle gange (5–29 %) | I 1 tilstand |
| INPP5Einositol polyphosphate-5-phosphatase E | Nogle gange (5–29 %) | I 1 tilstand |
| INPPL1inositol polyphosphate phosphatase like 1 | Nogle gange (5–29 %) | I 1 tilstand |
| IRF5interferon regulatory factor 5 | Nogle gange (5–29 %) | I 1 tilstand |
| JMJD1Cjumonji domain containing 1C | Nogle gange (5–29 %) | I 1 tilstand |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Nogle gange (5–29 %) | I 2 tilstande |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Nogle gange (5–29 %) | I 1 tilstand |
| KDM6Alysine demethylase 6A | Nogle gange (5–29 %) | I 1 tilstand |
| KITKIT proto-oncogene, receptor tyrosine kinase | Nogle gange (5–29 %) | I 1 tilstand |
| KLRC4killer cell lectin like receptor C4 | Nogle gange (5–29 %) | I 1 tilstand |
| KMT2Dlysine methyltransferase 2D | Nogle gange (5–29 %) | I 1 tilstand |
| KPTNkaptin, actin binding protein | Nogle gange (5–29 %) | I 1 tilstand |
| LACC1laccase domain multifunctional purine nucleosidase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| LCATlecithin-cholesterol acyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| MCTS1MCTS1 re-initiation and release factor | Nogle gange (5–29 %) | I 1 tilstand |
| MED12mediator complex subunit 12 | Nogle gange (5–29 %) | I 1 tilstand |
| MEFVMEFV innate immunity regulator, pyrin | Nogle gange (5–29 %) | I 3 tilstande |
| MICU1mitochondrial calcium uptake 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MIFmacrophage migration inhibitory factor | Nogle gange (5–29 %) | I 1 tilstand |
| MMEL1membrane metalloendopeptidase like 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MYD88MYD88 innate immune signal transduction adaptor | Nogle gange (5–29 %) | I 1 tilstand |
| MYO5Bmyosin VB | Nogle gange (5–29 %) | I 1 tilstand |
| NCF1neutrophil cytosolic factor 1 | Nogle gange (5–29 %) | I 2 tilstande |
| NCF2neutrophil cytosolic factor 2 | Nogle gange (5–29 %) | I 2 tilstande |
| NCF4neutrophil cytosolic factor 4 | Nogle gange (5–29 %) | I 1 tilstand |
| NEK8NIMA related kinase 8 | Nogle gange (5–29 %) | I 1 tilstand |
| NGLY1N-glycanase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NHP2NHP2 ribonucleoprotein | Nogle gange (5–29 %) | I 1 tilstand |
| NOD2nucleotide binding oligomerization domain containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| NOP10NOP10 ribonucleoprotein | Nogle gange (5–29 %) | I 1 tilstand |
| NOTCH1notch receptor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NOTCH2notch receptor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| NPM1nucleophosmin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PARNpoly(A)-specific ribonuclease | Nogle gange (5–29 %) | I 1 tilstand |
| PHKA2phosphorylase kinase regulatory subunit alpha 2 | Nogle gange (5–29 %) | I 2 tilstande |
| PHKBphosphorylase kinase regulatory subunit beta | Nogle gange (5–29 %) | I 2 tilstande |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Nogle gange (5–29 %) | I 1 tilstand |
| POU2AF1POU class 2 homeobox associating factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PPARGperoxisome proliferator activated receptor gamma | Nogle gange (5–29 %) | I 1 tilstand |
| PTENphosphatase and tensin homolog | Nogle gange (5–29 %) | I 2 tilstande |
| RHAGRh associated glycoprotein | Nogle gange (5–29 %) | I 2 tilstande |
| RORCRAR related orphan receptor C | Nogle gange (5–29 %) | I 1 tilstand |
| RPGRIP1LRPGRIP1 like | Nogle gange (5–29 %) | I 1 tilstand |
| RREB1ras responsive element binding protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RTEL1regulator of telomere elongation helicase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SAA1serum amyloid A1 | Nogle gange (5–29 %) | I 1 tilstand |
| SEC24CSEC24 homolog C, COPII component | Nogle gange (5–29 %) | I 1 tilstand |
| SF3B1splicing factor 3b subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SKIC3SKI3 subunit of superkiller complex | Nogle gange (5–29 %) | I 2 tilstande |
| SLCO2A1solute carrier organic anion transporter family member 2A1 | Nogle gange (5–29 %) | I 1 tilstand |
| SNX14sorting nexin 14 | Nogle gange (5–29 %) | I 1 tilstand |
| SOCS1suppressor of cytokine signaling 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SOX10SRY-box transcription factor 10 | Nogle gange (5–29 %) | I 1 tilstand |
| SPIBSpi-B transcription factor | Nogle gange (5–29 %) | I 1 tilstand |
| SRSF2serine and arginine rich splicing factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| STAT4signal transducer and activator of transcription 4 | Nogle gange (5–29 %) | I 1 tilstand |
| TBX1T-box transcription factor 1 | Nogle gange (5–29 %) | I 2 tilstande |
| TBXAS1thromboxane A synthase 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 |
| TGFB1transforming growth factor beta 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TINF2TERF1 interacting nuclear factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| TLR4toll like receptor 4 | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM67transmembrane protein 67 | Nogle gange (5–29 %) | I 2 tilstande |
| TNFSF15TNF superfamily member 15 | Nogle gange (5–29 %) | I 1 tilstand |
| TNPO3transportin 3 | Nogle gange (5–29 %) | I 1 tilstand |
| TREX1three prime repair exonuclease 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TYMSthymidylate synthetase | Nogle gange (5–29 %) | I 1 tilstand |
| UBAC2UBA domain containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Nogle gange (5–29 %) | I 1 tilstand |
| URODuroporphyrinogen decarboxylase | Nogle gange (5–29 %) | I 1 tilstand |
| VPS13Avacuolar protein sorting 13 homolog A | Nogle gange (5–29 %) | I 1 tilstand |
| WDR1WD repeat domain 1 | Nogle gange (5–29 %) | I 1 tilstand |
| WRAP53WD repeat containing antisense to TP53 | Nogle gange (5–29 %) | I 1 tilstand |
| DLL4delta like canonical Notch ligand 4 | Sjældent (1–4%) | I 1 tilstand |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Sjældent (1–4%) | I 2 tilstande |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Sjældent (1–4%) | I 2 tilstande |
| FOXP3forkhead box P3 | Sjældent (1–4%) | I 1 tilstand |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Sjældent (1–4%) | I 2 tilstande |
| HAVCR2hepatitis A virus cellular receptor 2 | Sjældent (1–4%) | I 1 tilstand |
| PHKG2phosphorylase kinase catalytic subunit gamma 2 | Sjældent (1–4%) | I 2 tilstande |
| PNPLA2patatin like domain 2, triacylglycerol lipase | Sjældent (1–4%) | I 1 tilstand |
| SGSHN-sulfoglucosamine sulfohydrolase | Sjældent (1–4%) | I 1 tilstand |
| SKIC2SKI2 subunit of superkiller complex | Sjældent (1–4%) | I 1 tilstand |
| ABCA1ATP binding cassette subfamily A member 1 | Ikke registreret | I 1 tilstand |
| AGPAT21-acylglycerol-3-phosphate O-acyltransferase 2 | Ikke registreret | I 1 tilstand |
| AKR1D1aldo-keto reductase family 1 member D1 | Ikke registreret | I 1 tilstand |
| ASAH1N-acylsphingosine amidohydrolase 1 | Ikke registreret | I 1 tilstand |
| BACH2BACH transcriptional regulator 2 | Ikke registreret | I 1 tilstand |
| BMP2bone morphogenetic protein 2 | Ikke registreret | I 1 tilstand |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Ikke registreret | I 1 tilstand |
| BTDbiotinidase | Ikke registreret | I 1 tilstand |
| BTNL2butyrophilin like 2 | Ikke registreret | I 1 tilstand |
| CAV1caveolin 1 | Ikke registreret | I 1 tilstand |
| CD19CD19 molecule | Ikke registreret | I 1 tilstand |
| CD40LGCD40 ligand | Ikke registreret | I 1 tilstand |
| CDAN1codanin 1 | Ikke registreret | I 1 tilstand |
| CDIN1CDAN1 interacting nuclease 1 | Ikke registreret | I 1 tilstand |
| CPOXcoproporphyrinogen oxidase | Ikke registreret | I 2 tilstande |
| CTNScystinosin, lysosomal cystine transporter | Ikke registreret | I 1 tilstand |
| DDRGK1DDRGK domain containing 1 | Ikke registreret | I 1 tilstand |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Ikke registreret | I 1 tilstand |
| DYNC2LI1dynein cytoplasmic 2 light intermediate chain 1 | Ikke registreret | I 1 tilstand |
| EPORerythropoietin receptor | Ikke registreret | I 1 tilstand |
| ERBB3erb-b2 receptor tyrosine kinase 3 | Ikke registreret | I 1 tilstand |
| FGAfibrinogen alpha chain | Ikke registreret | I 1 tilstand |
| FMO3flavin containing dimethylaniline monoxygenase 3 | Ikke registreret | I 1 tilstand |
| FUCA1alpha-L-fucosidase 1 | Ikke registreret | I 1 tilstand |
| G6PC3glucose-6-phosphatase catalytic subunit 3 | Ikke registreret | I 1 tilstand |
| GAAalpha glucosidase | Ikke registreret | I 1 tilstand |
| GALEUDP-galactose-4-epimerase | Ikke registreret | I 1 tilstand |
| GLRX5glutaredoxin 5 | Ikke registreret | I 1 tilstand |
| GP1BAglycoprotein Ib platelet subunit alpha | Ikke registreret | I 1 tilstand |
| HAMPhepcidin antimicrobial peptide | Ikke registreret | I 1 tilstand |
| HJVhemojuvelin BMP co-receptor | Ikke registreret | I 1 tilstand |
| HK1hexokinase 1 | Ikke registreret | I 1 tilstand |
| ICOSinducible T cell costimulator | Ikke registreret | I 1 tilstand |
| IFNGinterferon gamma | Ikke registreret | I 1 tilstand |
| IFT172intraflagellar transport 172 | Ikke registreret | I 1 tilstand |
| IL1RNinterleukin 1 receptor antagonist | Ikke registreret | I 1 tilstand |
| IL2RBinterleukin 2 receptor subunit beta | Ikke registreret | I 1 tilstand |
| ITCHitchy E3 ubiquitin protein ligase | Ikke registreret | I 1 tilstand |
| LBRlamin B receptor | Ikke registreret | I 1 tilstand |
| LPLlipoprotein lipase | Ikke registreret | I 1 tilstand |
| MAN2B1mannosidase alpha class 2B member 1 | Ikke registreret | I 1 tilstand |
| MCM4minichromosome maintenance complex component 4 | Ikke registreret | I 1 tilstand |
| MKS1MKS transition zone complex subunit 1 | Ikke registreret | I 1 tilstand |
| NAGLUN-acetyl-alpha-glucosaminidase | Ikke registreret | I 1 tilstand |
| OCLNoccludin | Ikke registreret | I 1 tilstand |
| PDGFRAplatelet derived growth factor receptor alpha | Ikke registreret | I 1 tilstand |
| PEX2peroxisomal biogenesis factor 2 | Ikke registreret | I 1 tilstand |
| PIK3C2Aphosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | Ikke registreret | I 1 tilstand |
| PNPpurine nucleoside phosphorylase | Ikke registreret | I 1 tilstand |
| PSMB4proteasome 20S subunit beta 4 | Ikke registreret | I 1 tilstand |
| RHDRh blood group D antigen | Ikke registreret | I 1 tilstand |
| RNASEH2Aribonuclease H2 subunit A | Ikke registreret | I 1 tilstand |
| RNU4ATACRNA, U4atac small nuclear | Ikke registreret | I 1 tilstand |
| SEC23BSEC23 homolog B, COPII component | Ikke registreret | I 1 tilstand |
| SLC17A5solute carrier family 17 member 5 | Ikke registreret | I 1 tilstand |
| SLC39A4solute carrier family 39 member 4 | Ikke registreret | I 1 tilstand |
| SLC7A7solute carrier family 7 member 7 | Ikke registreret | I 1 tilstand |
| TALDO1transaldolase 1 | Ikke registreret | I 1 tilstand |
| TNFRSF13BTNF receptor superfamily member 13B | Ikke registreret | I 1 tilstand |
| TNFRSF13CTNF receptor superfamily member 13C | Ikke registreret | I 1 tilstand |
| TNFRSF4TNF receptor superfamily member 4 | Ikke registreret | I 1 tilstand |
| TPI1triosephosphate isomerase 1 | Ikke registreret | I 1 tilstand |
| VMA22vacuolar ATPase assembly factor VMA22 | Ikke registreret | I 1 tilstand |
| WDR35WD repeat domain 35 | Ikke registreret | I 1 tilstand |
| ZAP70zeta chain of T cell receptor associated protein kinase 70 | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
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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 2026.10.17-8666dff2.
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