AtlasKellele me abi osutameMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Tunnus
Blood in urine
Kliiniline nimetus: Hematuria
The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).
Kokkuvõte
- Teised nimetused
- High urine occult blood
AtlasKellele me abi osutameMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
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Selle lehe andmed
Lehe aadressile saab lisada .json või päringusse application/json, et lugeda seda JSON-vormingus.
library(jsonlite)
url <- "https://dantelabs.com/traits/hematuria.json"
page <- fromJSON(url)
page$trait$nameBlood in urineHP:0000790
AtlasKellele me abi osutameMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Lugege välja geenid, mis on seotud Blood in urine-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test102 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.
- Hereditary Pheochromocytoma and ParagangliomaReads 9 of these genesMAXRETSDHASDHAF2SDHBSDHCAbout this report →
- Hemolytic Uremic Syndrome, Interstitial NephritisReads 8 of these genesDGKEFAN1C3CD46CFBCFHAbout this report →
- Polycystic Kidney DiseaseReads 8 of these genesIFT140ALG5ALG9DNAJB11GANABNEK8About this report →
- Alport SyndromeReads 3 of these genesCOL4A3COL4A4COL4A5About this report →
Show 98 more reports
- Primary HyperoxaluriaReads 3 of these genesHOGA1AGXTGRHPRAbout this report →
- Urinary and Renal System TumourReads 5 of these genesRETSDHASDHAF2SDHBVHLAbout this report →
- Malignant Endocrine NeoplasmReads 4 of these genesRETSDHASDHAF2SDHBAbout this report →
- ITGA2B/ITGB3-Related MacrothrombocytopeniaReads 2 of these genesITGA2BITGB3About this report →
- Renal HypouricemiaReads 2 of these genesSLC22A12SLC2A9About this report →
- Tuberous SclerosisReads 2 of these genesTSC1TSC2About this report →
- Chronic Mucocutaneous CandidiasisReads 3 of these genesIL17RAIL17RCTRAF3IP2About this report →
- Inherited Platelet Function DisordersReads 4 of these genesGP1BAGP1BBITGA2BITGB3About this report →
- Other Inborn Errors of ImmunityReads 19 of these genesCTLA4C4AC4BCR2DGKEIL10About this report →
- Rare Inherited Coagulation Factor DeficienciesReads 4 of these genesF10F5LMAN1MCFD2About this report →
- Systemic Lupus ErythematosusReads 3 of these genesDNASE1L3SAT1TREX1About this report →
- HaemophiliaReads 2 of these genesF8F9About this report →
- Autoimmune DiseaseReads 5 of these genesCTLA4DNASE1L3SAT1TREX1STAT3About this report →
- PolycythemiaReads 3 of these genesEPAS1VHLHBBAbout this report →
- ThrombophiliaReads 3 of these genesF5F9THBDAbout this report →
- Hereditary Gastrointestinal Stromal TumourReads 2 of these genesSDHBSDHCAbout this report →
- COL4A1-Related DisorderReads 1 of these genesCOL4A1About this report →
- CystinosisReads 1 of these genesCTNSAbout this report →
- DPH1-Related Developmental Delay with Short StatureReads 1 of these genesDPH1About this report →
- Fabry DiseaseReads 1 of these genesGLAAbout this report →
- Gaucher DiseaseReads 1 of these genesGBA1About this report →
- Glucose-Galactose MalabsorptionReads 1 of these genesSLC5A1About this report →
- Hajdu-Cheney SyndromeReads 1 of these genesNOTCH2About this report →
- Hereditary Leiomyomatosis and Renal Cell CancerReads 1 of these genesFHAbout this report →
- IFT140-Related CiliopathyReads 1 of these genesIFT140About this report →
- ITGB3-Related MacrothrombocytopeniaReads 1 of these genesITGB3About this report →
- Nail-Patella SyndromeReads 1 of these genesLMX1BAbout this report →
- NEK8-Related Renal-Hepatic-Pancreatic DysplasiaReads 1 of these genesNEK8About this report →
- Pulmonary Alveolar MicrolithiasisReads 1 of these genesSLC34A2About this report →
- Rett Syndrome and MECP2-Related DisordersReads 1 of these genesMECP2About this report →
- Sickle Cell DiseaseReads 1 of these genesHBBAbout this report →
- SPTBN1-Related Neurodevelopmental DisorderReads 1 of these genesSPTBN1About this report →
- Von Hippel-Lindau DiseaseReads 1 of these genesVHLAbout this report →
- Inherited Complement and Properdin DeficienciesReads 4 of these genesC4AC4BC3CFIAbout this report →
- Focal Segmental GlomerulosclerosisReads 3 of these genesMYO1EPAX2CD2APAbout this report →
- Nephrotic SyndromeReads 5 of these genesLAMB2DGKEKANK2NUP133NUP93About this report →
- Autosomal Dominant Tubulointerstitial Kidney DiseaseReads 2 of these genesHNF1BUMODAbout this report →
- GlomerulosclerosisReads 2 of these genesMYO1EPAX2About this report →
- Purine & Pyrimidine Metabolism DisordersReads 2 of these genesAPRTHPRT1About this report →
- Age-Related Macular DegenerationReads 1 of these genesCFHAbout this report →
- Alagille SyndromeReads 1 of these genesNOTCH2About this report →
- Dent Disease and Lowe SyndromeReads 1 of these genesOCRLAbout this report →
- Hereditary Von Willebrand DiseaseReads 1 of these genesGP1BAAbout this report →
- Rare Inherited Megaloblastic AnaemiasReads 1 of these genesUMPSAbout this report →
- STAT1 and STAT3 Gain-of-Function DiseaseReads 1 of these genesSTAT3About this report →
- Tubular Aggregate MyopathyReads 1 of these genesSTIM1About this report →
- Kidney CancerReads 2 of these genesSDHBVHLAbout this report →
- Common Variable Immunodeficiency (Monogenic CVID)Reads 2 of these genesCR2IRF2BP2About this report →
- Familial HypomagnesemiaReads 2 of these genesCLDN19CLDN16About this report →
- Type I InterferonopathiesReads 2 of these genesTREX1ACP5About this report →
- Urea Cycle DisorderReads 2 of these genesMCCC1SLC7A7About this report →
- Congenital AfibrinogenemiaReads 1 of these genesFGAAbout this report →
- Hirschsprung Disease & Related Enteric NeurocristopathiesReads 1 of these genesRETAbout this report →
- Methylmalonic & Propionic AcidemiaReads 2 of these genesMMACHCPRDX1About this report →
- Rare Monogenic Autoinflammatory DiseasesReads 3 of these genesTNFAIP3TREX1ACP5About this report →
- Carney Complex & Hereditary Adrenal Cushing SyndromeReads 1 of these genesPRKAR1AAbout this report →
- Inherited Fibrinolytic DisordersReads 1 of these genesSERPINF2About this report →
- NeurofibromatosisReads 1 of these genesNF1About this report →
- Overgrowth Syndromes (Sotos, Weaver, Tatton-Brown-Rahman, Malan)Reads 1 of these genesDNMT3AAbout this report →
- Pseudohypoparathyroidism & GNAS-Inactivation DisordersReads 1 of these genesPRKAR1AAbout this report →
- Epidermolysis BullosaReads 2 of these genesITGA6ITGB4About this report →
- Homocystinuria & Cobalamin DisordersReads 2 of these genesMMACHCPRDX1About this report →
- Hereditary Methaemoglobinaemia and Unstable HaemoglobinsReads 1 of these genesHBBAbout this report →
- MTOR Pathway Megalencephaly and Overgrowth DisordersReads 1 of these genesPIK3CAAbout this report →
- ThalassaemiaReads 1 of these genesHBBAbout this report →
- Growth Hormone Insensitivity & IGF-1 Axis DisordersReads 1 of these genesSTAT5BAbout this report →
- Inflammatory Bowel Diseases (IBD)Reads 1 of these genesIL10About this report →
- Lysosomal Storage DiseaseReads 3 of these genesCTNSGLAGBA1About this report →
- Autoimmune Lymphoproliferative Syndrome (ALPS)Reads 1 of these genesCTLA4About this report →
- Classic Organic AciduriasReads 1 of these genesMCCC1About this report →
- Hyper-IgE SyndromeReads 1 of these genesSTAT3About this report →
- Inherited Parathyroid & Calcium-Sensing DisordersReads 1 of these genesGATA3About this report →
- IPEX Syndrome and Other TregopathiesReads 1 of these genesCTLA4About this report →
- Aicardi-Goutieres SyndromeReads 1 of these genesTREX1About this report →
- Inherited ThrombocytopeniasReads 2 of these genesSTIM1GP1BBAbout this report →
- Rare Hereditary Peripheral NeuropathiesReads 5 of these genesFHSDHAFGAMMACHCPRDX1About this report →
- Congenital Anomalies of the Kidney and Urinary TractReads 1 of these genesPAX2About this report →
- Epilepsy (Full Panel)Reads 4 of these genesMECP2MDH2SCARB2LMNB2About this report →
- Hereditary AmyloidosisReads 1 of these genesFGAAbout this report →
- Maturity-Onset Diabetes Of The YoungReads 1 of these genesHNF1BAbout this report →
- Congenital Diarrhoeas & EnteropathiesReads 1 of these genesSLC5A1About this report →
- Glycogen Storage DiseaseReads 1 of these genesSLC37A4About this report →
- Parkinson DiseaseReads 1 of these genesGBA1About this report →
- Neonatal Diabetes MellitusReads 1 of these genesHNF1BAbout this report →
- Nephronophthisis and Senior-Løken SyndromeReads 1 of these genesNEK8About this report →
- Dyskeratosis CongenitaReads 1 of these genesNPM1About this report →
- Congenital Disorders of GlycosylationReads 2 of these genesALG9SLC37A4About this report →
- Microphthalmia, Anophthalmia & ColobomaReads 1 of these genesBCORAbout this report →
- Diabetes MellitusReads 1 of these genesHNF1BAbout this report →
- Thyroid CancerReads 1 of these genesRETAbout this report →
- DNA Repair DiseaseReads 1 of these genesFAN1About this report →
- Female InfertilityReads 1 of these genesLARS2About this report →
- Intellectual DisabilityReads 2 of these genesMECP2TBL1XR1About this report →
- Leigh SyndromeReads 1 of these genesSDHAAbout this report →
- Other Inherited LeukodystrophiesReads 1 of these genesTREX1About this report →
- Retinitis PigmentosaReads 1 of these genesIFT140About this report →
- Inherited Neurodegenerative DisordersReads 2 of these genesTREX1SDHAAbout this report →
- Hearing Loss and DeafnessReads 1 of these genesCOL4A6About this report →
Lugege välja geenid, mis on seotud Blood in urine-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test163 geeni on seotud tunnusega Blood in urine
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Blood in urine. Enamikul selle tunnusega inimestest ei ole ühtegi neist haigustest. Selles loendis olev geen ei ütle midagi kellegi enda genoomi kohta.
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| APRTadenine phosphoribosyltransferase | Alati | Esineb 1 haiguses |
| CTNScystinosin, lysosomal cystine transporter | Alati | Esineb 1 haiguses |
| HMOX1heme oxygenase 1 | Alati | Esineb 1 haiguses |
| IFT140intraflagellar transport 140 | Alati | Esineb 2 haiguses |
| LAMB2laminin subunit beta 2 | Alati | Esineb 1 haiguses |
| LARS2leucyl-tRNA synthetase 2, mitochondrial | Alati | Esineb 1 haiguses |
| MCCC1methylcrotonyl-CoA carboxylase subunit 1 | Alati | Esineb 1 haiguses |
| MYO1Emyosin IE | Alati | Esineb 1 haiguses |
| PLD4phospholipase D family member 4 | Alati | Esineb 1 haiguses |
| COL4A3collagen type IV alpha 3 chain | Väga sageli (80–99%) | Esineb 3 haiguses |
| COL4A4collagen type IV alpha 4 chain | Väga sageli (80–99%) | Esineb 4 haiguses |
| CTLA4cytotoxic T-lymphocyte associated protein 4 | Väga sageli (80–99%) | Esineb 2 haiguses |
| GLAgalactosidase alpha | Väga sageli (80–99%) | Esineb 1 haiguses |
| HLA-DPA1major histocompatibility complex, class II, DP alpha 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| HLA-DPB1major histocompatibility complex, class II, DP beta 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| HOGA14-hydroxy-2-oxoglutarate aldolase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PRTN3proteinase 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Väga sageli (80–99%) | Esineb 3 haiguses |
| AGXTalanine--glyoxylate aminotransferase | Sageli (30–79%) | Esineb 2 haiguses |
| ALG5ALG5 dolichyl-phosphate beta-glucosyltransferase | Sageli (30–79%) | Esineb 1 haiguses |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Sageli (30–79%) | Esineb 1 haiguses |
| BANK1B cell scaffold protein with ankyrin repeats 1 | Sageli (30–79%) | Esineb 1 haiguses |
| BICC1BicC family RNA binding protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| BLKBLK proto-oncogene, Src family tyrosine kinase | Sageli (30–79%) | Esineb 1 haiguses |
| C4Acomplement C4A (Chido/Rodgers blood group) | Sageli (30–79%) | Esineb 1 haiguses |
| C4Bcomplement C4B (Chido/Rodgers blood group) | Sageli (30–79%) | Esineb 1 haiguses |
| CLDN19claudin 19 | Sageli (30–79%) | Esineb 1 haiguses |
| COL4A1collagen type IV alpha 1 chain | Sageli (30–79%) | Esineb 2 haiguses |
| COL4A5collagen type IV alpha 5 chain | Sageli (30–79%) | Esineb 1 haiguses |
| COL4A6collagen type IV alpha 6 chain | Sageli (30–79%) | Esineb 1 haiguses |
| CR2complement C3d receptor 2 | Sageli (30–79%) | Esineb 1 haiguses |
| DGKEdiacylglycerol kinase epsilon | Sageli (30–79%) | Esineb 1 haiguses |
| DNAJB11DnaJ heat shock protein family (Hsp40) member B11 | Sageli (30–79%) | Esineb 1 haiguses |
| DNASE1deoxyribonuclease 1 | Sageli (30–79%) | Esineb 1 haiguses |
| DNASE1L3deoxyribonuclease 1L3 | Sageli (30–79%) | Esineb 1 haiguses |
| ETS1ETS proto-oncogene 1, transcription factor | Sageli (30–79%) | Esineb 1 haiguses |
| FCGR2BFc gamma receptor IIb | Sageli (30–79%) | Esineb 1 haiguses |
| FCGR3BFc gamma receptor IIIb | Sageli (30–79%) | Esineb 1 haiguses |
| GANABglucosidase II alpha subunit | Sageli (30–79%) | Esineb 1 haiguses |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Sageli (30–79%) | Esineb 2 haiguses |
Näita veel 123 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| HNF1BHNF1 homeobox B | Sageli (30–79%) | Esineb 1 haiguses |
| HPRT1hypoxanthine phosphoribosyltransferase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| IGHG1immunoglobulin heavy constant gamma 1 (G1m marker) | Sageli (30–79%) | Esineb 1 haiguses |
| IL10interleukin 10 | Sageli (30–79%) | Esineb 1 haiguses |
| IRAK1interleukin 1 receptor associated kinase 1 | Sageli (30–79%) | Esineb 2 haiguses |
| IRF5interferon regulatory factor 5 | Sageli (30–79%) | Esineb 1 haiguses |
| ITGA6integrin subunit alpha 6 | Sageli (30–79%) | Esineb 1 haiguses |
| ITGAMintegrin subunit alpha M | Sageli (30–79%) | Esineb 1 haiguses |
| ITGB4integrin subunit beta 4 | Sageli (30–79%) | Esineb 1 haiguses |
| JAZF1JAZF zinc finger 1 | Sageli (30–79%) | Esineb 1 haiguses |
| KANK2KN motif and ankyrin repeat domains 2 | Sageli (30–79%) | Esineb 1 haiguses |
| KIAA0319LKIAA0319 like | Sageli (30–79%) | Esineb 1 haiguses |
| MECP2methyl-CpG binding protein 2 | Sageli (30–79%) | Esineb 1 haiguses |
| NEK8NIMA related kinase 8 | Sageli (30–79%) | Esineb 1 haiguses |
| PAX2paired box 2 | Sageli (30–79%) | Esineb 1 haiguses |
| PDCD1programmed cell death 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PFKMphosphofructokinase, muscle | Sageli (30–79%) | Esineb 1 haiguses |
| PKD1polycystin 1, transient receptor potential channel interacting | Sageli (30–79%) | Esineb 1 haiguses |
| PKD2polycystin 2, transient receptor potential cation channel | Sageli (30–79%) | Esineb 1 haiguses |
| PXKPX domain containing serine/threonine kinase like | Sageli (30–79%) | Esineb 1 haiguses |
| SAT1spermidine/spermine N1-acetyltransferase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SERPINF2serpin family F member 2 | Sageli (30–79%) | Esineb 1 haiguses |
| SLC7A7solute carrier family 7 member 7 | Sageli (30–79%) | Esineb 1 haiguses |
| SPP1secreted phosphoprotein 1 | Sageli (30–79%) | Esineb 2 haiguses |
| SPRY2sprouty RTK signaling antagonist 2 | Sageli (30–79%) | Esineb 1 haiguses |
| STAT4signal transducer and activator of transcription 4 | Sageli (30–79%) | Esineb 2 haiguses |
| STIM1stromal interaction molecule 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TLR7toll like receptor 7 | Sageli (30–79%) | Esineb 1 haiguses |
| TNFAIP3TNF alpha induced protein 3 | Sageli (30–79%) | Esineb 1 haiguses |
| TNFSF4TNF superfamily member 4 | Sageli (30–79%) | Esineb 1 haiguses |
| TNIP1TNFAIP3 interacting protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TREX1three prime repair exonuclease 1 | Sageli (30–79%) | Esineb 2 haiguses |
| TSC1TSC complex subunit 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TSC2TSC complex subunit 2 | Sageli (30–79%) | Esineb 1 haiguses |
| UBE2L3ubiquitin conjugating enzyme E2 L3 | Sageli (30–79%) | Esineb 1 haiguses |
| YAP1Yes1 associated transcriptional regulator | Sageli (30–79%) | Esineb 2 haiguses |
| ACP5acid phosphatase 5, tartrate resistant | Mõnikord (5–29%) | Esineb 1 haiguses |
| AGGF1angiogenic factor with G-patch and FHA domains 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BNC2basonuclin zinc finger protein 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CD109CD109 molecule | Mõnikord (5–29%) | Esineb 1 haiguses |
| CLEC7AC-type lectin domain containing 7A | Mõnikord (5–29%) | Esineb 1 haiguses |
| DLSTdihydrolipoamide S-succinyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| DNMT3ADNA methyltransferase 3 alpha | Mõnikord (5–29%) | Esineb 1 haiguses |
| DPH1diphthamide biosynthesis 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| EPAS1endothelial PAS domain protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| F10coagulation factor X | Mõnikord (5–29%) | Esineb 1 haiguses |
| F5coagulation factor V | Mõnikord (5–29%) | Esineb 1 haiguses |
| F8coagulation factor VIII | Mõnikord (5–29%) | Esineb 1 haiguses |
| F9coagulation factor IX | Mõnikord (5–29%) | Esineb 1 haiguses |
| FAN1FANCD2 and FANCI associated nuclease 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FCGR2CFc gamma receptor IIc (gene/pseudogene) | Mõnikord (5–29%) | Esineb 1 haiguses |
| FHfumarate hydratase | Mõnikord (5–29%) | Esineb 1 haiguses |
| GBA1glucosylceramidase beta 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| GP1BAglycoprotein Ib platelet subunit alpha | Mõnikord (5–29%) | Esineb 1 haiguses |
| GP1BBglycoprotein Ib platelet subunit beta | Mõnikord (5–29%) | Esineb 1 haiguses |
| HLA-Bmajor histocompatibility complex, class I, B | Mõnikord (5–29%) | Esineb 1 haiguses |
| IL17Finterleukin 17F | Mõnikord (5–29%) | Esineb 1 haiguses |
| IL17RAinterleukin 17 receptor A | Mõnikord (5–29%) | Esineb 1 haiguses |
| IL17RCinterleukin 17 receptor C | Mõnikord (5–29%) | Esineb 1 haiguses |
| ITGA2integrin subunit alpha 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ITGA2Bintegrin subunit alpha 2b | Mõnikord (5–29%) | Esineb 1 haiguses |
| ITGB3integrin subunit beta 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KIF1Bkinesin family member 1B | Mõnikord (5–29%) | Esineb 1 haiguses |
| LMAN1lectin, mannose binding 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LMX1BLIM homeobox transcription factor 1 beta | Mõnikord (5–29%) | Esineb 2 haiguses |
| MAXMYC associated transcriptional regulator X | Mõnikord (5–29%) | Esineb 1 haiguses |
| MCFD2multiple coagulation factor deficiency 2, ER cargo receptor complex subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| MDH2malate dehydrogenase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NF1neurofibromin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Mõnikord (5–29%) | Esineb 1 haiguses |
| P4HA2prolyl 4-hydroxylase subunit alpha 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Mõnikord (5–29%) | Esineb 1 haiguses |
| RETret proto-oncogene | Mõnikord (5–29%) | Esineb 2 haiguses |
| SCARB2scavenger receptor class B member 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Mõnikord (5–29%) | Esineb 1 haiguses |
| SDHAF2succinate dehydrogenase complex assembly factor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Mõnikord (5–29%) | Esineb 2 haiguses |
| SDHCsuccinate dehydrogenase complex subunit C | Mõnikord (5–29%) | Esineb 1 haiguses |
| SDHDsuccinate dehydrogenase complex subunit D | Mõnikord (5–29%) | Esineb 2 haiguses |
| SLC22A12solute carrier family 22 member 12 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC25A11solute carrier family 25 member 11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC2A9solute carrier family 2 member 9 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SREBF1sterol regulatory element binding transcription factor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TMEM127transmembrane protein 127 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRAF3IP2TRAF3 interacting protein 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| UMODuromodulin | Mõnikord (5–29%) | Esineb 1 haiguses |
| VHLvon Hippel-Lindau tumor suppressor | Mõnikord (5–29%) | Esineb 2 haiguses |
| BCORBCL6 corepressor | Harva (1–4%) | Esineb 1 haiguses |
| FIP1L1factor interacting with PAPOLA and CPSF1 | Harva (1–4%) | Esineb 1 haiguses |
| IRF2BP2interferon regulatory factor 2 binding protein 2 | Harva (1–4%) | Esineb 1 haiguses |
| NABP1nucleic acid binding protein 1 | Harva (1–4%) | Esineb 1 haiguses |
| NPM1nucleophosmin 1 | Harva (1–4%) | Esineb 1 haiguses |
| NUMA1nuclear mitotic apparatus protein 1 | Harva (1–4%) | Esineb 1 haiguses |
| PMLPML nuclear body scaffold | Harva (1–4%) | Esineb 1 haiguses |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Harva (1–4%) | Esineb 1 haiguses |
| RARAretinoic acid receptor alpha | Harva (1–4%) | Esineb 1 haiguses |
| SLC34A2solute carrier family 34 member 2 | Harva (1–4%) | Esineb 1 haiguses |
| SLC5A1solute carrier family 5 member 1 | Harva (1–4%) | Esineb 1 haiguses |
| SPTBN1spectrin beta, non-erythrocytic 1 | Harva (1–4%) | Esineb 1 haiguses |
| STAT3signal transducer and activator of transcription 3 | Harva (1–4%) | Esineb 1 haiguses |
| STAT5Bsignal transducer and activator of transcription 5B | Harva (1–4%) | Esineb 1 haiguses |
| TBL1XR1TBL1X/Y related 1 | Harva (1–4%) | Esineb 1 haiguses |
| ZBTB16zinc finger and BTB domain containing 16 | Harva (1–4%) | Esineb 1 haiguses |
| C3complement C3 | Pole registreeritud | Esineb 1 haiguses |
| CD2APCD2 associated protein | Pole registreeritud | Esineb 1 haiguses |
| CD46CD46 molecule | Pole registreeritud | Esineb 1 haiguses |
| CFBcomplement factor B | Pole registreeritud | Esineb 1 haiguses |
| CFHcomplement factor H | Pole registreeritud | Esineb 1 haiguses |
| CFIcomplement factor I | Pole registreeritud | Esineb 1 haiguses |
| CLDN16claudin 16 | Pole registreeritud | Esineb 1 haiguses |
| FGAfibrinogen alpha chain | Pole registreeritud | Esineb 1 haiguses |
| GATA3GATA binding protein 3 | Pole registreeritud | Esineb 1 haiguses |
| GRHPRglyoxylate and hydroxypyruvate reductase | Pole registreeritud | Esineb 1 haiguses |
| HBBhemoglobin subunit beta | Pole registreeritud | Esineb 1 haiguses |
| LMNB2lamin B2 | Pole registreeritud | Esineb 1 haiguses |
| MMACHCmetabolism of cobalamin associated C | Pole registreeritud | Esineb 1 haiguses |
| NOTCH2notch receptor 2 | Pole registreeritud | Esineb 1 haiguses |
| NUP133nucleoporin 133 | Pole registreeritud | Esineb 1 haiguses |
| NUP93nucleoporin 93 | Pole registreeritud | Esineb 1 haiguses |
| PRDX1peroxiredoxin 1 | Pole registreeritud | Esineb 1 haiguses |
| SLC37A4solute carrier family 37 member 4 | Pole registreeritud | Esineb 1 haiguses |
| THBDthrombomodulin | Pole registreeritud | Esineb 1 haiguses |
| UMPSuridine monophosphate synthetase | Pole registreeritud | Esineb 1 haiguses |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Kitsamad tunnused
Laiemad tunnused
Allikas
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: tunnus, selle nimetused, määratlus ja sellega seotud geenid. Lisateave leiab aadressilt hpo.jax.org.
- Andmeversioon 2026.10.21-777c9289.
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