Tratto
Renal failure
Nome clinico: Renal insufficiency
A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.
Riepilogo
- Detto anche
- Renal failure in adulthood
- Sistema corporeo
- Abnormality of the genitourinary system
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Ottieni il mio Genome Test159 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.
- Fanconi AnemiaReads 18 of these genesERCC4BRCA1BRCA2BRIP1FANCAFANCBAbout this report →
- DNA Repair DiseaseReads 20 of these genesERCC4BRCA1BRCA2BRIP1ERCC6ERCC8About this report →
- Polycystic Kidney DiseaseReads 10 of these genesNEK8ALG5ALG9DNAJB11GANABIFT140About this report →
- Hereditary Pheochromocytoma and ParagangliomaReads 9 of these genesMAXRETSDHASDHAF2SDHBSDHCAbout this report →
Show 155 more reports
- Joubert Syndrome And Related DisordersReads 15 of these genesCEP290RPGRIP1LTMEM67NPHP1CC2D2ACEP120About this report →
- Cornelia de Lange SyndromeReads 6 of these genesBRD4HDAC8NIPBLRAD21SMC1ASMC3About this report →
- Nephronophthisis and Senior-Løken SyndromeReads 10 of these genesANKS6MAPKBP1NEK8NPHP3TMEM67NPHP1About this report →
- Malignant Endocrine NeoplasmReads 6 of these genesCDC73MEN1RETSDHASDHAF2SDHBAbout this report →
- Urinary and Renal System TumourReads 6 of these genesPAX6RETSDHASDHAF2SDHBVHLAbout this report →
- Alport SyndromeReads 3 of these genesCOL4A3COL4A4COL4A5About this report →
- Branchio-Oto-Renal Spectrum DisorderReads 3 of these genesEYA1SIX1SIX5About this report →
- Bardet-Biedl and Alström SyndromesReads 8 of these genesBBIP1CEP290BBS9IFT172IFT27ALMS1About this report →
- Autoimmune Lymphoproliferative Syndrome (ALPS)Reads 4 of these genesCTLA4FASCASP10FASLGAbout this report →
- Inherited Parathyroid & Calcium-Sensing DisordersReads 4 of these genesGATA3AP2S1CDC73GCM2About this report →
- Congenital Anomalies of the Kidney and Urinary TractReads 5 of these genesPAX2EYA1SIX1SIX5TBX18About this report →
- Purine & Pyrimidine Metabolism DisordersReads 4 of these genesAPRTHPRT1PRPS1MOCOSAbout this report →
- CystinuriaReads 2 of these genesSLC3A1SLC7A9About this report →
- Dent Disease and Lowe SyndromeReads 2 of these genesOCRLCLCN5About this report →
- Hereditary Breast and Ovarian Cancer (BRCA1/2)Reads 2 of these genesBRCA1BRCA2About this report →
- Kabuki SyndromeReads 2 of these genesKDM6AKMT2DAbout this report →
- Nephrogenic Diabetes InsipidusReads 2 of these genesAQP2AVPR2About this report →
- Tuberous SclerosisReads 2 of these genesTSC1TSC2About this report →
- Hemolytic Uremic Syndrome, Interstitial NephritisReads 4 of these genesCFHR5DGKEC3CFIAbout this report →
- Autoimmune DiseaseReads 6 of these genesDNASE1L3SAT1CTLA4FASCASP10FASLGAbout this report →
- Other Inborn Errors of ImmunityReads 18 of these genesNCF1C4ACTLA4DGKEFASIKZF1About this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 9 of these genesCEP290TMEM67CC2D2ACSPP1KIAA0586TMEM138About this report →
- Primary HyperoxaluriaReads 2 of these genesAGXTGRHPRAbout this report →
- PolycythemiaReads 3 of these genesEPAS1VHLHBBAbout this report →
- Glycogen Storage DiseaseReads 4 of these genesPGK1LDHAPGAM2SLC37A4About this report →
- Monogenic Hypertension & Mineralocorticoid DisordersReads 4 of these genesSCNN1ASCNN1BSCNN1GHSD11B2About this report →
- Breast and Ovarian Cancer Genes Beyond BRCA1/2Reads 3 of these genesBRIP1PALB2RAD51CAbout this report →
- Kidney CancerReads 3 of these genesPAX6SDHBVHLAbout this report →
- Hereditary Gastrointestinal Stromal TumourReads 2 of these genesSDHBSDHCAbout this report →
- Overgrowth Syndromes (Sotos, Weaver, Tatton-Brown-Rahman, Malan)Reads 2 of these genesDNMT3ANSD1About this report →
- 22q11.2 Deletion SyndromeReads 1 of these genesTBX1About this report →
- Asphyxiating Thoracic Dystrophy 2 (IFT80)Reads 1 of these genesIFT80About this report →
- CEP290-Related CiliopathyReads 1 of these genesCEP290About this report →
- COL4A1-Related DisorderReads 1 of these genesCOL4A1About this report →
- CystinosisReads 1 of these genesCTNSAbout this report →
- Fabry DiseaseReads 1 of these genesGLAAbout this report →
- Familial Mediterranean FeverReads 1 of these genesMEFVAbout this report →
- FANCM-Related Genomic Instability DisorderReads 1 of these genesFANCMAbout this report →
- Feingold Syndrome Type 1Reads 1 of these genesMYCNAbout this report →
- Glucose-Galactose MalabsorptionReads 1 of these genesSLC5A1About this report →
- Hajdu-Cheney SyndromeReads 1 of these genesNOTCH2About this report →
- Hand-Foot-Genital SyndromeReads 1 of these genesHOXA13About this report →
- Hereditary Leiomyomatosis and Renal Cell CancerReads 1 of these genesFHAbout this report →
- Hereditary Thrombocythaemia (JAK2)Reads 1 of these genesJAK2About this report →
- Hyperprolinaemia Type 2Reads 1 of these genesALDH4A1About this report →
- IFT140-Related CiliopathyReads 1 of these genesIFT140About this report →
- Jeune Asphyxiating Thoracic Dystrophy (DYNC2H1)Reads 1 of these genesDYNC2H1About this report →
- LPIN1-Related Recurrent RhabdomyolysisReads 1 of these genesLPIN1About this report →
- Nail-Patella SyndromeReads 1 of these genesLMX1BAbout this report →
- NEK8-Related Renal-Hepatic-Pancreatic DysplasiaReads 1 of these genesNEK8About this report →
- OFD1-Related CiliopathyReads 1 of these genesOFD1About this report →
- PALB2 related diseasesReads 1 of these genesPALB2About this report →
- PBX1-Related Kidney and Urinary Tract AnomaliesReads 1 of these genesPBX1About this report →
- PNPLA6-Related Ataxia, Retinal Dystrophy and HypogonadismReads 1 of these genesPNPLA6About this report →
- Scalp-Ear-Nipple SyndromeReads 1 of these genesKCTD1About this report →
- Short-Rib Thoracic Dysplasia 11 (DYNC2I2)Reads 1 of these genesDYNC2I2About this report →
- Short-Rib Thoracic Dysplasia 7 (WDR35)Reads 1 of these genesWDR35About this report →
- Short-Rib Thoracic Dysplasia 8 (DYNC2I1)Reads 1 of these genesDYNC2I1About this report →
- Sickle Cell DiseaseReads 1 of these genesHBBAbout this report →
- Townes-Brocks SyndromeReads 1 of these genesSALL1About this report →
- Von Hippel-Lindau DiseaseReads 1 of these genesVHLAbout this report →
- Focal Segmental GlomerulosclerosisReads 3 of these genesPAX2CD2APCRB2About this report →
- Meckel SyndromeReads 3 of these genesRPGRIP1LTMEM67TMEM231About this report →
- Familial HypomagnesemiaReads 3 of these genesCLDN16FXYD2CLDN10About this report →
- Autosomal Dominant Tubulointerstitial Kidney DiseaseReads 2 of these genesUMODHNF1BAbout this report →
- Bartter DiseaseReads 2 of these genesBSNDCLCNKBAbout this report →
- Systemic Lupus ErythematosusReads 2 of these genesDNASE1L3SAT1About this report →
- Methylmalonic & Propionic AcidemiaReads 3 of these genesMMACHCMMUTPRDX1About this report →
- Inherited Neurodegenerative DisordersReads 15 of these genesCEP290TMEM67PNPLA6SLC30A9CC2D2ACSPP1About this report →
- Ellis-van Creveld Syndrome and Cranioectodermal DysplasiaReads 2 of these genesWDR19WDR35About this report →
- Inherited Complement and Properdin DeficienciesReads 3 of these genesC4AC3CFIAbout this report →
- Thyroid CancerReads 4 of these genesCDC73GCM2MEN1RETAbout this report →
- GlomerulosclerosisReads 2 of these genesPAX2CRB2About this report →
- Alagille SyndromeReads 1 of these genesNOTCH2About this report →
- Darier and Hailey-Hailey DiseaseReads 1 of these genesATP2A2About this report →
- Hereditary Wilms TumourReads 1 of these genesWT1About this report →
- Hypercalcemia InfantileReads 1 of these genesSLC34A1About this report →
- Rare Hereditary Peripheral NeuropathiesReads 10 of these genesLYZMMEPRPS1ELP1FHMMACHCAbout this report →
- Mendelian Susceptibility to Mycobacterial Disease (MSMD)Reads 2 of these genesIFNGR1IL23RAbout this report →
- Congenital Disorders of GlycosylationReads 6 of these genesDHDDSALG9COG1ALG1PIGASLC37A4About this report →
- Hereditary AmyloidosisReads 2 of these genesLYZGSNAbout this report →
- Cerebral Creatine Deficiency SyndromesReads 1 of these genesGATMAbout this report →
- Hereditary Fructose Intolerance & Gluconeogenesis DefectsReads 1 of these genesALDOBAbout this report →
- Hirschsprung Disease & Related Enteric NeurocristopathiesReads 1 of these genesRETAbout this report →
- Immuno-Osseous DysplasiasReads 1 of these genesSMARCAL1About this report →
- MedulloblastomaReads 1 of these genesELP1About this report →
- TyrosinemiaReads 1 of these genesFAHAbout this report →
- X-Linked Lymphoproliferative Disease and XMENReads 1 of these genesXIAPAbout this report →
- Retinitis PigmentosaReads 5 of these genesDHDDSIFT140CC2D2AIFT172OFD1About this report →
- Nephrotic SyndromeReads 3 of these genesLAMB2DGKENPHS1About this report →
- Fanconi Renotubular Syndrome and Renal GlucosuriaReads 1 of these genesGATMAbout this report →
- NeurofibromatosisReads 1 of these genesNF1About this report →
- Epidermolysis BullosaReads 2 of these genesCOL7A1ITGA3About this report →
- Hereditary Corneal DystrophiesReads 2 of these genesTCF4GSNAbout this report →
- Homocystinuria & Cobalamin DisordersReads 2 of these genesMMACHCPRDX1About this report →
- Alzheimer diseaseReads 1 of these genesAPOEAbout this report →
- Hereditary Methaemoglobinaemia and Unstable HaemoglobinsReads 1 of these genesHBBAbout this report →
- ThalassaemiaReads 1 of these genesHBBAbout this report →
- Syndromic CraniosynostosisReads 2 of these genesWDR19WDR35About this report →
- Chronic Granulomatous DiseaseReads 1 of these genesNCF1About this report →
- Hereditary Periodic Fever SyndromesReads 1 of these genesNLRP3About this report →
- Heritable Pulmonary Arterial Hypertension (HPAH)Reads 1 of these genesCAV1About this report →
- Inflammatory Bowel Diseases (IBD)Reads 1 of these genesIL10About this report →
- Peroxisomal Enzyme Disorders & Refsum DiseaseReads 1 of these genesPHYHAbout this report →
- Hearing Loss and DeafnessReads 4 of these genesMYH9PRPS1KARS1SIX1About this report →
- Intellectual DisabilityReads 6 of these genesACSL4BRD4CHD4EHMT1MED12TCF4About this report →
- Congenital Cranial Dysinnervation DisordersReads 1 of these genesMAFBAbout this report →
- Hereditary HypolipoproteinemiasReads 1 of these genesLCATAbout this report →
- IPEX Syndrome and Other TregopathiesReads 1 of these genesCTLA4About this report →
- Diabetes MellitusReads 2 of these genesHNF1BPAX6About this report →
- Aicardi-Goutieres SyndromeReads 1 of these genesRNU7-1About this report →
- Hepatic Porphyria DisordersReads 1 of these genesHMBSAbout this report →
- Rare Monogenic Autoinflammatory DiseasesReads 2 of these genesIL36RNRNU7-1About this report →
- Anterior Segment Dysgenesis, Axenfeld-Rieger Syndrome & AniridiaReads 1 of these genesPAX6About this report →
- Epiphyseal and Spondyloepiphyseal DysplasiasReads 1 of these genesFN1About this report →
- Imprinting Disorders: Prader-Willi, Silver-Russell and Beckwith-WiedemannReads 1 of these genesNSD1About this report →
- PorphyriaReads 1 of these genesHMBSAbout this report →
- ThrombophiliaReads 1 of these genesF5About this report →
- Common Variable Immunodeficiency (Monogenic CVID)Reads 1 of these genesIKZF1About this report →
- Familial Intrahepatic CholestasisReads 1 of these genesPSKH1About this report →
- Rare Inherited Coagulation Factor DeficienciesReads 1 of these genesF5About this report →
- Male InfertilityReads 2 of these genesFKBP6FANCMAbout this report →
- Hermansky-Pudlak SyndromeReads 1 of these genesHPS1About this report →
- Epilepsy (Full Panel)Reads 4 of these genesSCARB2MDH2PIGASMC1AAbout this report →
- LipodystrophyReads 1 of these genesCAV1About this report →
- Maturity-Onset Diabetes Of The YoungReads 1 of these genesHNF1BAbout this report →
- Severe Congenital NeutropeniaReads 1 of these genesCLPBAbout this report →
- Urea Cycle DisorderReads 1 of these genesASLAbout this report →
- Congenital Diarrhoeas & EnteropathiesReads 1 of these genesSLC5A1About this report →
- HyperlipidemiaReads 1 of these genesAPOEAbout this report →
- Inherited Congenital Heart DefectsReads 1 of these genesELNAbout this report →
- Zellweger Spectrum & Peroxisome Biogenesis DisordersReads 1 of these genesPEX7About this report →
- Lysosomal Storage DiseaseReads 2 of these genesGLACTNSAbout this report →
- Complex Cortical Dysplasia and Frontoparietal PolymicrogyriaReads 1 of these genesAPC2About this report →
- Primary Mitochondrial DiseaseReads 3 of these genesRMND1DNAJC30NFS1About this report →
- Hypertrophic CardiomyopathyReads 2 of these genesHRASNSD1About this report →
- Cutis LaxaReads 1 of these genesELNAbout this report →
- Fatty Acid Oxidation & Carnitine Cycle DisordersReads 1 of these genesCPT2About this report →
- Primary Lymphoedema & Lymphatic MalformationsReads 1 of these genesSOX18About this report →
- Amelogenesis ImperfectaReads 1 of these genesFAM20AAbout this report →
- 46,XY Differences of Sex Development and Gonadal DysgenesisReads 1 of these genesWT1About this report →
- Charcot-Marie-Tooth DiseaseReads 2 of these genesMMEPRPS1About this report →
- Other Inherited LeukodystrophiesReads 2 of these genesPEX7RNU7-1About this report →
- GPI Anchor Biosynthesis DefectsReads 1 of these genesPIGAAbout this report →
- Neonatal Diabetes MellitusReads 1 of these genesHNF1BAbout this report →
- Hereditary Sensory and Autonomic Neuropathies (incl. Familial Dysautonomia)Reads 1 of these genesELP1About this report →
- Leber Congenital Amaurosis & RPE65-Related RetinopathyReads 1 of these genesCEP290About this report →
- Noonan SyndromeReads 1 of these genesHRASAbout this report →
- Lissencephaly Spectrum DisordersReads 1 of these genesAPC2About this report →
- Syndromic Complex Neurodevelopmental DisorderReads 1 of these genesPAN2About this report →
- Inherited IchthyosesReads 1 of these genesSTSAbout this report →
- Inherited ThrombocytopeniasReads 1 of these genesMYH9About this report →
- Female InfertilityReads 1 of these genesFANCMAbout this report →
- Hereditary Spastic ParaplegiaReads 1 of these genesPNPLA6About this report →
- Leigh SyndromeReads 1 of these genesSDHAAbout this report →
Leggi i geni collegati a Renal failure e il resto del tuo genoma con un unico test.
A partire da 449 $Spedizione gratuita · Risultati in 6–8 settimane
Ottieni il mio Genome Test312 geni collegati a Renal failure
Alterazioni in questi geni causano malattie rare in cui si osserva Renal failure. La maggior parte delle persone con questo tratto non presenta nessuna di tali condizioni, e un gene di questo elenco non dice nulla sul genoma di nessuno in particolare.
| Gene | Frequenza di osservazione | Condizioni |
|---|---|---|
| AGXTalanine--glyoxylate aminotransferase | Sempre | In 1 condizione |
| ANKS6ankyrin repeat and sterile alpha motif domain containing 6 | Sempre | In 1 condizione |
| APRTadenine phosphoribosyltransferase | Sempre | In 2 condizioni |
| BBIP1BBSome interacting protein 1 | Sempre | In 1 condizione |
| CEP290centrosomal protein 290 | Sempre | In 2 condizioni |
| CLDN16claudin 16 | Sempre | In 1 condizione |
| COL4A3collagen type IV alpha 3 chain | Sempre | In 4 condizioni |
| CPT2carnitine palmitoyltransferase 2 | Sempre | In 4 condizioni |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Sempre | In 2 condizioni |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Sempre | In 3 condizioni |
| KDM6Alysine demethylase 6A | Sempre | In 1 condizione |
| KMT2Dlysine methyltransferase 2D | Sempre | In 1 condizione |
| LAMB2laminin subunit beta 2 | Sempre | In 2 condizioni |
| LYZlysozyme | Sempre | In 1 condizione |
| MAPKBP1mitogen-activated protein kinase binding protein 1 | Sempre | In 1 condizione |
| MDM2MDM2 proto-oncogene | Sempre | In 1 condizione |
| NEK8NIMA related kinase 8 | Sempre | In 3 condizioni |
| NPHP3nephrocystin 3 | Sempre | In 3 condizioni |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Sempre | In 1 condizione |
| PSKH1protein serine kinase H1 | Sempre | In 1 condizione |
| RMND1required for meiotic nuclear division 1 homolog | Sempre | In 1 condizione |
| RPGRIP1LRPGRIP1 like | Sempre | In 3 condizioni |
| SCARB2scavenger receptor class B member 2 | Sempre | In 1 condizione |
| SLC34A1solute carrier family 34 member 1 | Sempre | In 1 condizione |
| TMEM67transmembrane protein 67 | Sempre | In 3 condizioni |
| UMODuromodulin | Sempre | In 1 condizione |
| ALG5ALG5 dolichyl-phosphate beta-glucosyltransferase | Molto spesso (80–99%) | In 2 condizioni |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Molto spesso (80–99%) | In 1 condizione |
| BICC1BicC family RNA binding protein 1 | Molto spesso (80–99%) | In 2 condizioni |
| COL4A1collagen type IV alpha 1 chain | Molto spesso (80–99%) | In 2 condizioni |
| COL4A4collagen type IV alpha 4 chain | Molto spesso (80–99%) | In 3 condizioni |
| DNAJB11DnaJ heat shock protein family (Hsp40) member B11 | Molto spesso (80–99%) | In 2 condizioni |
| FN1fibronectin 1 | Molto spesso (80–99%) | In 2 condizioni |
| GANABglucosidase II alpha subunit | Molto spesso (80–99%) | In 1 condizione |
| GLAgalactosidase alpha | Molto spesso (80–99%) | In 2 condizioni |
| HNF1BHNF1 homeobox B | Molto spesso (80–99%) | In 2 condizioni |
| IFT140intraflagellar transport 140 | Molto spesso (80–99%) | In 2 condizioni |
| LMX1BLIM homeobox transcription factor 1 beta | Molto spesso (80–99%) | In 4 condizioni |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Molto spesso (80–99%) | In 2 condizioni |
| PAX2paired box 2 | Molto spesso (80–99%) | In 1 condizione |
Mostra altri 272 geni
| Gene | Frequenza di osservazione | Condizioni |
|---|---|---|
| PKD1polycystin 1, transient receptor potential channel interacting | Molto spesso (80–99%) | In 2 condizioni |
| PKD2polycystin 2, transient receptor potential cation channel | Molto spesso (80–99%) | In 2 condizioni |
| ACSL4acyl-CoA synthetase long chain family member 4 | Spesso (30–79%) | In 1 condizione |
| AMMECR1AMMECR nuclear protein 1 | Spesso (30–79%) | In 1 condizione |
| ATP2A2ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 | Spesso (30–79%) | In 1 condizione |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Spesso (30–79%) | In 1 condizione |
| BBS9Bardet-Biedl syndrome 9 | Spesso (30–79%) | In 1 condizione |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Spesso (30–79%) | In 1 condizione |
| CCNQcyclin Q | Spesso (30–79%) | In 1 condizione |
| CFHR5complement factor H related 5 | Spesso (30–79%) | In 1 condizione |
| CHRM3cholinergic receptor muscarinic 3 | Spesso (30–79%) | In 1 condizione |
| CLIP2CAP-Gly domain containing linker protein 2 | Spesso (30–79%) | In 1 condizione |
| COG1component of oligomeric golgi complex 1 | Spesso (30–79%) | In 1 condizione |
| COL4A5collagen type IV alpha 5 chain | Spesso (30–79%) | In 2 condizioni |
| CORINcorin, serine peptidase | Spesso (30–79%) | In 1 condizione |
| CTNScystinosin, lysosomal cystine transporter | Spesso (30–79%) | In 2 condizioni |
| DACT1dishevelled binding antagonist of beta catenin 1 | Spesso (30–79%) | In 1 condizione |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Spesso (30–79%) | In 1 condizione |
| DNASE1L3deoxyribonuclease 1L3 | Spesso (30–79%) | In 1 condizione |
| DZIP1LDAZ interacting zinc finger protein 1 like | Spesso (30–79%) | In 1 condizione |
| EIF4Heukaryotic translation initiation factor 4H | Spesso (30–79%) | In 1 condizione |
| ELNelastin | Spesso (30–79%) | In 2 condizioni |
| FAM20AFAM20A golgi associated secretory pathway pseudokinase | Spesso (30–79%) | In 2 condizioni |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Spesso (30–79%) | In 1 condizione |
| FLT1fms related receptor tyrosine kinase 1 | Spesso (30–79%) | In 1 condizione |
| GATA3GATA binding protein 3 | Spesso (30–79%) | In 1 condizione |
| GTF2Igeneral transcription factor IIi | Spesso (30–79%) | In 1 condizione |
| GTF2IRD1GTF2I repeat domain containing 1 | Spesso (30–79%) | In 1 condizione |
| GTF2IRD2GTF2I repeat domain containing 2 | Spesso (30–79%) | In 1 condizione |
| HMBShydroxymethylbilane synthase | Spesso (30–79%) | In 1 condizione |
| HPRT1hypoxanthine phosphoribosyltransferase 1 | Spesso (30–79%) | In 3 condizioni |
| IFT56intraflagellar transport 56 | Spesso (30–79%) | In 1 condizione |
| IRAK1interleukin 1 receptor associated kinase 1 | Spesso (30–79%) | In 1 condizione |
| KCNE5potassium voltage-gated channel subfamily E regulatory subunit 5 | Spesso (30–79%) | In 1 condizione |
| KCTD1potassium channel tetramerization domain containing 1 | Spesso (30–79%) | In 1 condizione |
| LIMK1LIM domain kinase 1 | Spesso (30–79%) | In 1 condizione |
| LPIN1lipin 1 | Spesso (30–79%) | In 1 condizione |
| MAFBMAF bZIP transcription factor B | Spesso (30–79%) | In 1 condizione |
| MEFVMEFV innate immunity regulator, pyrin | Spesso (30–79%) | In 2 condizioni |
| METTL27methyltransferase like 27 | Spesso (30–79%) | In 1 condizione |
| MMEmembrane metalloendopeptidase | Spesso (30–79%) | In 1 condizione |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Spesso (30–79%) | In 1 condizione |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Spesso (30–79%) | In 1 condizione |
| MT-TTmitochondrially encoded tRNA-Thr (ACN) | Spesso (30–79%) | In 1 condizione |
| MYH9myosin heavy chain 9 | Spesso (30–79%) | In 1 condizione |
| NCF1neutrophil cytosolic factor 1 | Spesso (30–79%) | In 1 condizione |
| NFS1NFS1 cysteine desulfurase | Spesso (30–79%) | In 1 condizione |
| NPHP1nephrocystin 1 | Spesso (30–79%) | In 3 condizioni |
| OBSCNobscurin, cytoskeletal calmodulin and titin-interacting RhoGEF | Spesso (30–79%) | In 2 condizioni |
| PKHD1PKHD1 ciliary IPT domain containing fibrocystin/polyductin | Spesso (30–79%) | In 2 condizioni |
| PNPLA6patatin like domain 6, lysophospholipase | Spesso (30–79%) | In 1 condizione |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Spesso (30–79%) | In 3 condizioni |
| RFC2replication factor C subunit 2 | Spesso (30–79%) | In 1 condizione |
| SALL1spalt like transcription factor 1 | Spesso (30–79%) | In 2 condizioni |
| SAT1spermidine/spermine N1-acetyltransferase 1 | Spesso (30–79%) | In 1 condizione |
| SCNN1Asodium channel epithelial 1 subunit alpha | Spesso (30–79%) | In 1 condizione |
| SCNN1Bsodium channel epithelial 1 subunit beta | Spesso (30–79%) | In 2 condizioni |
| SCNN1Gsodium channel epithelial 1 subunit gamma | Spesso (30–79%) | In 1 condizione |
| SHPKsedoheptulokinase | Spesso (30–79%) | In 1 condizione |
| SLC30A9solute carrier family 30 member 9 | Spesso (30–79%) | In 1 condizione |
| SLC41A1solute carrier family 41 member 1 | Spesso (30–79%) | In 1 condizione |
| SPP1secreted phosphoprotein 1 | Spesso (30–79%) | In 1 condizione |
| STAT4signal transducer and activator of transcription 4 | Spesso (30–79%) | In 2 condizioni |
| STOX1storkhead box 1 | Spesso (30–79%) | In 1 condizione |
| STX1Asyntaxin 1A | Spesso (30–79%) | In 1 condizione |
| TBL2transducin beta like 2 | Spesso (30–79%) | In 1 condizione |
| TMEM270transmembrane protein 270 | Spesso (30–79%) | In 1 condizione |
| VPS37DVPS37D subunit of ESCRT-I | Spesso (30–79%) | In 1 condizione |
| WDR73WD repeat domain 73 | Spesso (30–79%) | In 2 condizioni |
| WT1WT1 transcription factor | Spesso (30–79%) | In 3 condizioni |
| ZNF592zinc finger protein 592 | Spesso (30–79%) | In 1 condizione |
| ALDH4A1aldehyde dehydrogenase 4 family member A1 | A volte (5–29%) | In 1 condizione |
| ALDOBaldolase, fructose-bisphosphate B | A volte (5–29%) | In 1 condizione |
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | A volte (5–29%) | In 1 condizione |
| AP1S3adaptor related protein complex 1 subunit sigma 3 | A volte (5–29%) | In 1 condizione |
| AP2S1adaptor related protein complex 2 subunit sigma 1 | A volte (5–29%) | In 1 condizione |
| APC2APC regulator of Wnt signaling pathway 2 | A volte (5–29%) | In 1 condizione |
| AQP2aquaporin 2 | A volte (5–29%) | In 1 condizione |
| ASLargininosuccinate lyase | A volte (5–29%) | In 1 condizione |
| AVPR2arginine vasopressin receptor 2 | A volte (5–29%) | In 1 condizione |
| BNC2basonuclin zinc finger protein 2 | A volte (5–29%) | In 1 condizione |
| BRCA1BRCA1 DNA repair associated | A volte (5–29%) | In 1 condizione |
| BRCA2BRCA2 DNA repair associated | A volte (5–29%) | In 1 condizione |
| BRD4bromodomain containing 4 | A volte (5–29%) | In 1 condizione |
| BRIP1BRCA1 interacting DNA helicase 1 | A volte (5–29%) | In 1 condizione |
| BTNL2butyrophilin like 2 | A volte (5–29%) | In 1 condizione |
| C4Acomplement C4A (Chido/Rodgers blood group) | A volte (5–29%) | In 1 condizione |
| CALRcalreticulin | A volte (5–29%) | In 1 condizione |
| CAV1caveolin 1 | A volte (5–29%) | In 1 condizione |
| CC2D2Acoiled-coil and C2 domain containing 2A | A volte (5–29%) | In 2 condizioni |
| CCN2cellular communication network factor 2 | A volte (5–29%) | In 1 condizione |
| CCR1C-C motif chemokine receptor 1 | A volte (5–29%) | In 1 condizione |
| CCR6C-C motif chemokine receptor 6 | A volte (5–29%) | In 1 condizione |
| CDC73cell division cycle 73 | A volte (5–29%) | In 3 condizioni |
| CEP120centrosomal protein 120 | A volte (5–29%) | In 1 condizione |
| CHD4chromodomain helicase DNA binding protein 4 | A volte (5–29%) | In 1 condizione |
| CLPBClpB family mitochondrial disaggregase | A volte (5–29%) | In 1 condizione |
| COL7A1collagen type VII alpha 1 chain | A volte (5–29%) | In 1 condizione |
| CSPP1centrosome and spindle pole associated protein 1 | A volte (5–29%) | In 1 condizione |
| CTLA4cytotoxic T-lymphocyte associated protein 4 | A volte (5–29%) | In 1 condizione |
| DGKEdiacylglycerol kinase epsilon | A volte (5–29%) | In 1 condizione |
| DLSTdihydrolipoamide S-succinyltransferase | A volte (5–29%) | In 1 condizione |
| DNMT3ADNA methyltransferase 3 alpha | A volte (5–29%) | In 1 condizione |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | A volte (5–29%) | In 1 condizione |
| DYNC2I1dynein 2 intermediate chain 1 | A volte (5–29%) | In 1 condizione |
| DYNC2I2dynein 2 intermediate chain 2 | A volte (5–29%) | In 1 condizione |
| DYNC2LI1dynein cytoplasmic 2 light intermediate chain 1 | A volte (5–29%) | In 1 condizione |
| EHMT1euchromatic histone lysine methyltransferase 1 | A volte (5–29%) | In 1 condizione |
| EIF2AK3eukaryotic translation initiation factor 2 alpha kinase 3 | A volte (5–29%) | In 2 condizioni |
| ELP1elongator acetyltransferase complex subunit 1 | A volte (5–29%) | In 1 condizione |
| EPAS1endothelial PAS domain protein 1 | A volte (5–29%) | In 1 condizione |
| ERAP1endoplasmic reticulum aminopeptidase 1 | A volte (5–29%) | In 1 condizione |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | A volte (5–29%) | In 3 condizioni |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | A volte (5–29%) | In 3 condizioni |
| EYA1EYA transcriptional coactivator and phosphatase 1 | A volte (5–29%) | In 1 condizione |
| F5coagulation factor V | A volte (5–29%) | In 1 condizione |
| FAAP100FA core complex associated protein 100 | A volte (5–29%) | In 1 condizione |
| FANCAFA complementation group A | A volte (5–29%) | In 1 condizione |
| FANCBFA complementation group B | A volte (5–29%) | In 1 condizione |
| FANCCFA complementation group C | A volte (5–29%) | In 1 condizione |
| FANCD2FA complementation group D2 | A volte (5–29%) | In 1 condizione |
| FANCEFA complementation group E | A volte (5–29%) | In 1 condizione |
| FANCFFA complementation group F | A volte (5–29%) | In 1 condizione |
| FANCGFA complementation group G | A volte (5–29%) | In 1 condizione |
| FANCIFA complementation group I | A volte (5–29%) | In 1 condizione |
| FANCLFA complementation group L | A volte (5–29%) | In 1 condizione |
| FANCMFA complementation group M | A volte (5–29%) | In 1 condizione |
| FASFas cell surface death receptor | A volte (5–29%) | In 2 condizioni |
| FBXO22F-box protein 22 | A volte (5–29%) | In 1 condizione |
| FHfumarate hydratase | A volte (5–29%) | In 1 condizione |
| FUZfuzzy planar cell polarity protein | A volte (5–29%) | In 1 condizione |
| FXYD2FXYD domain containing ion transport regulator 2 | A volte (5–29%) | In 1 condizione |
| GCM2GCM transcription factor 2 | A volte (5–29%) | In 1 condizione |
| GPR35G protein-coupled receptor 35 | A volte (5–29%) | In 1 condizione |
| GRHPRglyoxylate and hydroxypyruvate reductase | A volte (5–29%) | In 2 condizioni |
| HDAC8histone deacetylase 8 | A volte (5–29%) | In 1 condizione |
| HLA-Bmajor histocompatibility complex, class I, B | A volte (5–29%) | In 3 condizioni |
| HLA-DPA1major histocompatibility complex, class II, DP alpha 1 | A volte (5–29%) | In 1 condizione |
| HLA-DPB1major histocompatibility complex, class II, DP beta 1 | A volte (5–29%) | In 1 condizione |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | A volte (5–29%) | In 3 condizioni |
| HPSE2heparanase 2 (inactive) | A volte (5–29%) | In 1 condizione |
| HRASHRas proto-oncogene, GTPase | A volte (5–29%) | In 1 condizione |
| HSD11B2hydroxysteroid 11-beta dehydrogenase 2 | A volte (5–29%) | In 1 condizione |
| IFNGinterferon gamma | A volte (5–29%) | In 1 condizione |
| IFNGR1interferon gamma receptor 1 | A volte (5–29%) | In 1 condizione |
| IFT172intraflagellar transport 172 | A volte (5–29%) | In 1 condizione |
| IFT27intraflagellar transport 27 | A volte (5–29%) | In 1 condizione |
| IFT80intraflagellar transport 80 | A volte (5–29%) | In 1 condizione |
| IKZF1IKAROS family zinc finger 1 | A volte (5–29%) | In 1 condizione |
| IL10interleukin 10 | A volte (5–29%) | In 1 condizione |
| IL12Ainterleukin 12A | A volte (5–29%) | In 1 condizione |
| IL12A-AS1IL12A antisense RNA 1 | A volte (5–29%) | In 1 condizione |
| IL23Rinterleukin 23 receptor | A volte (5–29%) | In 1 condizione |
| IL36RNinterleukin 36 receptor antagonist | A volte (5–29%) | In 1 condizione |
| INPP5Einositol polyphosphate-5-phosphatase E | A volte (5–29%) | In 1 condizione |
| IRF5interferon regulatory factor 5 | A volte (5–29%) | In 1 condizione |
| JAK2Janus kinase 2 | A volte (5–29%) | In 1 condizione |
| KARS1lysyl-tRNA synthetase 1 | A volte (5–29%) | In 1 condizione |
| KIAA0586KIAA0586 | A volte (5–29%) | In 1 condizione |
| KIAA0753KIAA0753 | A volte (5–29%) | In 1 condizione |
| KIF1Bkinesin family member 1B | A volte (5–29%) | In 1 condizione |
| KLRC4killer cell lectin like receptor C4 | A volte (5–29%) | In 1 condizione |
| LHX1LIM homeobox 1 | A volte (5–29%) | In 1 condizione |
| LRIG2leucine rich repeats and immunoglobulin like domains 2 | A volte (5–29%) | In 2 condizioni |
| MAD2L2mitotic arrest deficient 2 like 2 | A volte (5–29%) | In 1 condizione |
| MAU2MAU2 sister chromatid cohesion factor | A volte (5–29%) | In 1 condizione |
| MAXMYC associated transcriptional regulator X | A volte (5–29%) | In 1 condizione |
| MDH2malate dehydrogenase 2 | A volte (5–29%) | In 1 condizione |
| MED12mediator complex subunit 12 | A volte (5–29%) | In 1 condizione |
| MEN1menin 1 | A volte (5–29%) | In 1 condizione |
| MMACHCmetabolism of cobalamin associated C | A volte (5–29%) | In 2 condizioni |
| MMP1matrix metallopeptidase 1 | A volte (5–29%) | In 1 condizione |
| MMUTmethylmalonyl-CoA mutase | A volte (5–29%) | In 2 condizioni |
| MOCOSmolybdenum cofactor sulfurase | A volte (5–29%) | In 1 condizione |
| MST1macrophage stimulating 1 | A volte (5–29%) | In 1 condizione |
| MYCNMYCN proto-oncogene, bHLH transcription factor | A volte (5–29%) | In 1 condizione |
| MYD88MYD88 innate immune signal transduction adaptor | A volte (5–29%) | In 1 condizione |
| NF1neurofibromin 1 | A volte (5–29%) | In 1 condizione |
| NIPBLNIPBL cohesin loading factor | A volte (5–29%) | In 1 condizione |
| NSD1nuclear receptor binding SET domain protein 1 | A volte (5–29%) | In 1 condizione |
| OCLNoccludin | A volte (5–29%) | In 1 condizione |
| OFD1OFD1 centriole and centriolar satellite protein | A volte (5–29%) | In 1 condizione |
| P4HA2prolyl 4-hydroxylase subunit alpha 2 | A volte (5–29%) | In 1 condizione |
| PALB2partner and localizer of BRCA2 | A volte (5–29%) | In 1 condizione |
| PAX6paired box 6 | A volte (5–29%) | In 1 condizione |
| PEX7peroxisomal biogenesis factor 7 | A volte (5–29%) | In 1 condizione |
| PGK1phosphoglycerate kinase 1 | A volte (5–29%) | In 2 condizioni |
| PHYHphytanoyl-CoA 2-hydroxylase | A volte (5–29%) | In 1 condizione |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | A volte (5–29%) | In 1 condizione |
| PRTN3proteinase 3 | A volte (5–29%) | In 1 condizione |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | A volte (5–29%) | In 2 condizioni |
| RAD21RAD21 cohesin complex component | A volte (5–29%) | In 1 condizione |
| RAD51RAD51 recombinase | A volte (5–29%) | In 1 condizione |
| RAD51CRAD51 paralog C | A volte (5–29%) | In 1 condizione |
| RETret proto-oncogene | A volte (5–29%) | In 2 condizioni |
| RFWD3ring finger and WD repeat domain 3 | A volte (5–29%) | In 1 condizione |
| RNU7-1RNA, U7 small nuclear 1 | A volte (5–29%) | In 1 condizione |
| SAA1serum amyloid A1 | A volte (5–29%) | In 1 condizione |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | A volte (5–29%) | In 1 condizione |
| SDHAF2succinate dehydrogenase complex assembly factor 2 | A volte (5–29%) | In 1 condizione |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | A volte (5–29%) | In 2 condizioni |
| SDHCsuccinate dehydrogenase complex subunit C | A volte (5–29%) | In 1 condizione |
| SDHDsuccinate dehydrogenase complex subunit D | A volte (5–29%) | In 2 condizioni |
| SEMA4Dsemaphorin 4D | A volte (5–29%) | In 1 condizione |
| SIX1SIX homeobox 1 | A volte (5–29%) | In 1 condizione |
| SIX5SIX homeobox 5 | A volte (5–29%) | In 2 condizioni |
| SLC25A11solute carrier family 25 member 11 | A volte (5–29%) | In 1 condizione |
| SLC5A1solute carrier family 5 member 1 | A volte (5–29%) | In 1 condizione |
| SLX4SLX4 structure-specific endonuclease subunit | A volte (5–29%) | In 1 condizione |
| SMC1Astructural maintenance of chromosomes 1A | A volte (5–29%) | In 1 condizione |
| SMC3structural maintenance of chromosomes 3 | A volte (5–29%) | In 1 condizione |
| STSsteroid sulfatase | A volte (5–29%) | In 1 condizione |
| TBX1T-box transcription factor 1 | A volte (5–29%) | In 1 condizione |
| TBX18T-box transcription factor 18 | A volte (5–29%) | In 1 condizione |
| TCF4transcription factor 4 | A volte (5–29%) | In 1 condizione |
| TLR4toll like receptor 4 | A volte (5–29%) | In 1 condizione |
| TMEM127transmembrane protein 127 | A volte (5–29%) | In 1 condizione |
| TMEM138transmembrane protein 138 | A volte (5–29%) | In 1 condizione |
| TMEM216transmembrane protein 216 | A volte (5–29%) | In 2 condizioni |
| TMEM231transmembrane protein 231 | A volte (5–29%) | In 1 condizione |
| TMEM237transmembrane protein 237 | A volte (5–29%) | In 2 condizioni |
| TSC1TSC complex subunit 1 | A volte (5–29%) | In 1 condizione |
| TSC2TSC complex subunit 2 | A volte (5–29%) | In 1 condizione |
| TTC21Btetratricopeptide repeat domain 21B | A volte (5–29%) | In 1 condizione |
| UBAC2UBA domain containing 2 | A volte (5–29%) | In 1 condizione |
| UBE2Tubiquitin conjugating enzyme E2 T | A volte (5–29%) | In 1 condizione |
| VANGL1VANGL planar cell polarity protein 1 | A volte (5–29%) | In 1 condizione |
| VHLvon Hippel-Lindau tumor suppressor | A volte (5–29%) | In 2 condizioni |
| WDR19WD repeat domain 19 | A volte (5–29%) | In 1 condizione |
| XIAPX-linked inhibitor of apoptosis | A volte (5–29%) | In 1 condizione |
| XRCC2X-ray repair cross complementing 2 | A volte (5–29%) | In 1 condizione |
| ZNF423zinc finger protein 423 | A volte (5–29%) | In 1 condizione |
| ZNFX1zinc finger NFX1-type containing 1 | A volte (5–29%) | In 1 condizione |
| ACBD6acyl-CoA binding domain containing 6 | Raramente (1–4%) | In 1 condizione |
| CASP10caspase 10 | Raramente (1–4%) | In 1 condizione |
| FASLGFas ligand | Raramente (1–4%) | In 1 condizione |
| PBX1PBX homeobox 1 | Raramente (1–4%) | In 1 condizione |
| ALMS1ALMS1 centrosome and basal body associated protein | Non registrato | In 1 condizione |
| APOEapolipoprotein E | Non registrato | In 1 condizione |
| BBS10Bardet-Biedl syndrome 10 | Non registrato | In 1 condizione |
| BSNDbarttin CLCNK type accessory subunit beta | Non registrato | In 1 condizione |
| C3complement C3 | Non registrato | In 1 condizione |
| CD2APCD2 associated protein | Non registrato | In 1 condizione |
| CFIcomplement factor I | Non registrato | In 1 condizione |
| CLCN5Cl-/H+ antiporter 5 | Non registrato | In 4 condizioni |
| CLCNKAchloride voltage-gated channel Ka | Non registrato | In 1 condizione |
| CLCNKBchloride voltage-gated channel Kb | Non registrato | In 1 condizione |
| CLDN10claudin 10 | Non registrato | In 1 condizione |
| CRB2crumbs cell polarity complex component 2 | Non registrato | In 1 condizione |
| FAHfumarylacetoacetate hydrolase | Non registrato | In 1 condizione |
| GATMglycine amidinotransferase | Non registrato | In 1 condizione |
| GSNgelsolin | Non registrato | In 1 condizione |
| HBBhemoglobin subunit beta | Non registrato | In 1 condizione |
| HOXA13homeobox A13 | Non registrato | In 1 condizione |
| HPS1HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 | Non registrato | In 1 condizione |
| ITGA3integrin subunit alpha 3 | Non registrato | In 1 condizione |
| LCATlecithin-cholesterol acyltransferase | Non registrato | In 1 condizione |
| LDHAlactate dehydrogenase A | Non registrato | In 1 condizione |
| MLXIPLMLX interacting protein like | Non registrato | In 1 condizione |
| NLRP3NLR family pyrin domain containing 3 | Non registrato | In 1 condizione |
| NOTCH2notch receptor 2 | Non registrato | In 1 condizione |
| NPHS1NPHS1 adhesion molecule, nephrin | Non registrato | In 1 condizione |
| PGAM2phosphoglycerate mutase 2 | Non registrato | In 1 condizione |
| PRDX1peroxiredoxin 1 | Non registrato | In 1 condizione |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Non registrato | In 1 condizione |
| SLC37A4solute carrier family 37 member 4 | Non registrato | In 1 condizione |
| SLC3A1solute carrier family 3 member 1 | Non registrato | In 1 condizione |
| SLC7A9solute carrier family 7 member 9 | Non registrato | In 1 condizione |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Non registrato | In 1 condizione |
| SOX18SRY-box transcription factor 18 | Non registrato | In 1 condizione |
| TMEM260transmembrane protein 260 | Non registrato | In 1 condizione |
| WDR35WD repeat domain 35 | Non registrato | In 1 condizione |
Con quale frequenza questo tratto si presenta tra le persone con una delle condizioni legate al gene, nella misura più alta riscontrata tra queste, secondo quanto registrato dall'Human Phenotype Ontology. Queste pagine descrivono tratti e la ricerca che li riguarda; non costituiscono una diagnosi, e per i sintomi il medico o il consulente genetico è la persona a cui rivolgersi.
Tratti più specifici
Tratti più generali
Fonte dei dati
- Human Phenotype Ontology, versione 2026-09-01: il tratto, i suoi nomi, la sua definizione e i geni a esso collegati. Per saperne di più visiti hpo.jax.org.
- Versione dei dati 2026.10.19-9814e911.
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