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Træk
Renal failure
Klinisk navn: 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.
Resumé
- Også kaldet
- Renal failure in adulthood
- Kropssystem
- Abnormality of the genitourinary system
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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/renal-insufficiency.json"
page <- fromJSON(url)
page$trait$nameRenal failureHP:0000083
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Læs de gener, der er knyttet til Renal failure, og resten af dit genom, med én test.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger
Bestil min 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 →
Læs de gener, der er knyttet til Renal failure, og resten af dit genom, med én test.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger
Bestil min Genome Test312 gener knyttet til Renal failure
Ændringer i disse gener forårsager sjældne tilstande, hvor Renal failure 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 |
|---|---|---|
| AGXTalanine--glyoxylate aminotransferase | Altid | I 1 tilstand |
| ANKS6ankyrin repeat and sterile alpha motif domain containing 6 | Altid | I 1 tilstand |
| APRTadenine phosphoribosyltransferase | Altid | I 2 tilstande |
| BBIP1BBSome interacting protein 1 | Altid | I 1 tilstand |
| CEP290centrosomal protein 290 | Altid | I 2 tilstande |
| CLDN16claudin 16 | Altid | I 1 tilstand |
| COL4A3collagen type IV alpha 3 chain | Altid | I 4 tilstande |
| CPT2carnitine palmitoyltransferase 2 | Altid | I 4 tilstande |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Altid | I 2 tilstande |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Altid | I 3 tilstande |
| KDM6Alysine demethylase 6A | Altid | I 1 tilstand |
| KMT2Dlysine methyltransferase 2D | Altid | I 1 tilstand |
| LAMB2laminin subunit beta 2 | Altid | I 2 tilstande |
| LYZlysozyme | Altid | I 1 tilstand |
| MAPKBP1mitogen-activated protein kinase binding protein 1 | Altid | I 1 tilstand |
| MDM2MDM2 proto-oncogene | Altid | I 1 tilstand |
| NEK8NIMA related kinase 8 | Altid | I 3 tilstande |
| NPHP3nephrocystin 3 | Altid | I 3 tilstande |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Altid | I 1 tilstand |
| PSKH1protein serine kinase H1 | Altid | I 1 tilstand |
| RMND1required for meiotic nuclear division 1 homolog | Altid | I 1 tilstand |
| RPGRIP1LRPGRIP1 like | Altid | I 3 tilstande |
| SCARB2scavenger receptor class B member 2 | Altid | I 1 tilstand |
| SLC34A1solute carrier family 34 member 1 | Altid | I 1 tilstand |
| TMEM67transmembrane protein 67 | Altid | I 3 tilstande |
| UMODuromodulin | Altid | I 1 tilstand |
| ALG5ALG5 dolichyl-phosphate beta-glucosyltransferase | Meget ofte (80–99 %) | I 2 tilstande |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Meget ofte (80–99 %) | I 1 tilstand |
| BICC1BicC family RNA binding protein 1 | Meget ofte (80–99 %) | I 2 tilstande |
| COL4A1collagen type IV alpha 1 chain | Meget ofte (80–99 %) | I 2 tilstande |
| COL4A4collagen type IV alpha 4 chain | Meget ofte (80–99 %) | I 3 tilstande |
| DNAJB11DnaJ heat shock protein family (Hsp40) member B11 | Meget ofte (80–99 %) | I 2 tilstande |
| FN1fibronectin 1 | Meget ofte (80–99 %) | I 2 tilstande |
| GANABglucosidase II alpha subunit | Meget ofte (80–99 %) | I 1 tilstand |
| GLAgalactosidase alpha | Meget ofte (80–99 %) | I 2 tilstande |
| HNF1BHNF1 homeobox B | Meget ofte (80–99 %) | I 2 tilstande |
| IFT140intraflagellar transport 140 | Meget ofte (80–99 %) | I 2 tilstande |
| LMX1BLIM homeobox transcription factor 1 beta | Meget ofte (80–99 %) | I 4 tilstande |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Meget ofte (80–99 %) | I 2 tilstande |
| PAX2paired box 2 | Meget ofte (80–99 %) | I 1 tilstand |
Vis 272 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| PKD1polycystin 1, transient receptor potential channel interacting | Meget ofte (80–99 %) | I 2 tilstande |
| PKD2polycystin 2, transient receptor potential cation channel | Meget ofte (80–99 %) | I 2 tilstande |
| ACSL4acyl-CoA synthetase long chain family member 4 | Ofte (30–79 %) | I 1 tilstand |
| AMMECR1AMMECR nuclear protein 1 | Ofte (30–79 %) | I 1 tilstand |
| ATP2A2ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 | Ofte (30–79 %) | I 1 tilstand |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Ofte (30–79 %) | I 1 tilstand |
| BBS9Bardet-Biedl syndrome 9 | Ofte (30–79 %) | I 1 tilstand |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Ofte (30–79 %) | I 1 tilstand |
| CCNQcyclin Q | Ofte (30–79 %) | I 1 tilstand |
| CFHR5complement factor H related 5 | Ofte (30–79 %) | I 1 tilstand |
| CHRM3cholinergic receptor muscarinic 3 | Ofte (30–79 %) | I 1 tilstand |
| CLIP2CAP-Gly domain containing linker protein 2 | Ofte (30–79 %) | I 1 tilstand |
| COG1component of oligomeric golgi complex 1 | Ofte (30–79 %) | I 1 tilstand |
| COL4A5collagen type IV alpha 5 chain | Ofte (30–79 %) | I 2 tilstande |
| CORINcorin, serine peptidase | Ofte (30–79 %) | I 1 tilstand |
| CTNScystinosin, lysosomal cystine transporter | Ofte (30–79 %) | I 2 tilstande |
| DACT1dishevelled binding antagonist of beta catenin 1 | Ofte (30–79 %) | I 1 tilstand |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Ofte (30–79 %) | I 1 tilstand |
| DNASE1L3deoxyribonuclease 1L3 | Ofte (30–79 %) | I 1 tilstand |
| DZIP1LDAZ interacting zinc finger protein 1 like | Ofte (30–79 %) | I 1 tilstand |
| EIF4Heukaryotic translation initiation factor 4H | Ofte (30–79 %) | I 1 tilstand |
| ELNelastin | Ofte (30–79 %) | I 2 tilstande |
| FAM20AFAM20A golgi associated secretory pathway pseudokinase | Ofte (30–79 %) | I 2 tilstande |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Ofte (30–79 %) | I 1 tilstand |
| FLT1fms related receptor tyrosine kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| GATA3GATA binding protein 3 | Ofte (30–79 %) | I 1 tilstand |
| GTF2Igeneral transcription factor IIi | Ofte (30–79 %) | I 1 tilstand |
| GTF2IRD1GTF2I repeat domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| GTF2IRD2GTF2I repeat domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| HMBShydroxymethylbilane synthase | Ofte (30–79 %) | I 1 tilstand |
| HPRT1hypoxanthine phosphoribosyltransferase 1 | Ofte (30–79 %) | I 3 tilstande |
| IFT56intraflagellar transport 56 | Ofte (30–79 %) | I 1 tilstand |
| IRAK1interleukin 1 receptor associated kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| KCNE5potassium voltage-gated channel subfamily E regulatory subunit 5 | Ofte (30–79 %) | I 1 tilstand |
| KCTD1potassium channel tetramerization domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| LIMK1LIM domain kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| LPIN1lipin 1 | Ofte (30–79 %) | I 1 tilstand |
| MAFBMAF bZIP transcription factor B | Ofte (30–79 %) | I 1 tilstand |
| MEFVMEFV innate immunity regulator, pyrin | Ofte (30–79 %) | I 2 tilstande |
| METTL27methyltransferase like 27 | Ofte (30–79 %) | I 1 tilstand |
| MMEmembrane metalloendopeptidase | Ofte (30–79 %) | I 1 tilstand |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Ofte (30–79 %) | I 1 tilstand |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Ofte (30–79 %) | I 1 tilstand |
| MT-TTmitochondrially encoded tRNA-Thr (ACN) | Ofte (30–79 %) | I 1 tilstand |
| MYH9myosin heavy chain 9 | Ofte (30–79 %) | I 1 tilstand |
| NCF1neutrophil cytosolic factor 1 | Ofte (30–79 %) | I 1 tilstand |
| NFS1NFS1 cysteine desulfurase | Ofte (30–79 %) | I 1 tilstand |
| NPHP1nephrocystin 1 | Ofte (30–79 %) | I 3 tilstande |
| OBSCNobscurin, cytoskeletal calmodulin and titin-interacting RhoGEF | Ofte (30–79 %) | I 2 tilstande |
| PKHD1PKHD1 ciliary IPT domain containing fibrocystin/polyductin | Ofte (30–79 %) | I 2 tilstande |
| PNPLA6patatin like domain 6, lysophospholipase | Ofte (30–79 %) | I 1 tilstand |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Ofte (30–79 %) | I 3 tilstande |
| RFC2replication factor C subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| SALL1spalt like transcription factor 1 | Ofte (30–79 %) | I 2 tilstande |
| SAT1spermidine/spermine N1-acetyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| SCNN1Asodium channel epithelial 1 subunit alpha | Ofte (30–79 %) | I 1 tilstand |
| SCNN1Bsodium channel epithelial 1 subunit beta | Ofte (30–79 %) | I 2 tilstande |
| SCNN1Gsodium channel epithelial 1 subunit gamma | Ofte (30–79 %) | I 1 tilstand |
| SHPKsedoheptulokinase | Ofte (30–79 %) | I 1 tilstand |
| SLC30A9solute carrier family 30 member 9 | Ofte (30–79 %) | I 1 tilstand |
| SLC41A1solute carrier family 41 member 1 | Ofte (30–79 %) | I 1 tilstand |
| SPP1secreted phosphoprotein 1 | Ofte (30–79 %) | I 1 tilstand |
| STAT4signal transducer and activator of transcription 4 | Ofte (30–79 %) | I 2 tilstande |
| STOX1storkhead box 1 | Ofte (30–79 %) | I 1 tilstand |
| STX1Asyntaxin 1A | Ofte (30–79 %) | I 1 tilstand |
| TBL2transducin beta like 2 | Ofte (30–79 %) | I 1 tilstand |
| TMEM270transmembrane protein 270 | Ofte (30–79 %) | I 1 tilstand |
| VPS37DVPS37D subunit of ESCRT-I | Ofte (30–79 %) | I 1 tilstand |
| WDR73WD repeat domain 73 | Ofte (30–79 %) | I 2 tilstande |
| WT1WT1 transcription factor | Ofte (30–79 %) | I 3 tilstande |
| ZNF592zinc finger protein 592 | Ofte (30–79 %) | I 1 tilstand |
| ALDH4A1aldehyde dehydrogenase 4 family member A1 | Nogle gange (5–29 %) | I 1 tilstand |
| ALDOBaldolase, fructose-bisphosphate B | Nogle gange (5–29 %) | I 1 tilstand |
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| AP1S3adaptor related protein complex 1 subunit sigma 3 | Nogle gange (5–29 %) | I 1 tilstand |
| AP2S1adaptor related protein complex 2 subunit sigma 1 | Nogle gange (5–29 %) | I 1 tilstand |
| APC2APC regulator of Wnt signaling pathway 2 | Nogle gange (5–29 %) | I 1 tilstand |
| AQP2aquaporin 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ASLargininosuccinate lyase | Nogle gange (5–29 %) | I 1 tilstand |
| AVPR2arginine vasopressin receptor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| BNC2basonuclin zinc finger protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| BRCA1BRCA1 DNA repair associated | Nogle gange (5–29 %) | I 1 tilstand |
| BRCA2BRCA2 DNA repair associated | Nogle gange (5–29 %) | I 1 tilstand |
| BRD4bromodomain containing 4 | Nogle gange (5–29 %) | I 1 tilstand |
| BRIP1BRCA1 interacting DNA helicase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| BTNL2butyrophilin like 2 | Nogle gange (5–29 %) | I 1 tilstand |
| C4Acomplement C4A (Chido/Rodgers blood group) | Nogle gange (5–29 %) | I 1 tilstand |
| CALRcalreticulin | Nogle gange (5–29 %) | I 1 tilstand |
| CAV1caveolin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CC2D2Acoiled-coil and C2 domain containing 2A | Nogle gange (5–29 %) | I 2 tilstande |
| CCN2cellular communication network factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| CCR1C-C motif chemokine receptor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CCR6C-C motif chemokine receptor 6 | Nogle gange (5–29 %) | I 1 tilstand |
| CDC73cell division cycle 73 | Nogle gange (5–29 %) | I 3 tilstande |
| CEP120centrosomal protein 120 | Nogle gange (5–29 %) | I 1 tilstand |
| CHD4chromodomain helicase DNA binding protein 4 | Nogle gange (5–29 %) | I 1 tilstand |
| CLPBClpB family mitochondrial disaggregase | Nogle gange (5–29 %) | I 1 tilstand |
| COL7A1collagen type VII alpha 1 chain | Nogle gange (5–29 %) | I 1 tilstand |
| CSPP1centrosome and spindle pole associated protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CTLA4cytotoxic T-lymphocyte associated protein 4 | Nogle gange (5–29 %) | I 1 tilstand |
| DGKEdiacylglycerol kinase epsilon | Nogle gange (5–29 %) | I 1 tilstand |
| DLSTdihydrolipoamide S-succinyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| DNMT3ADNA methyltransferase 3 alpha | Nogle gange (5–29 %) | I 1 tilstand |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DYNC2I1dynein 2 intermediate chain 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DYNC2I2dynein 2 intermediate chain 2 | Nogle gange (5–29 %) | I 1 tilstand |
| DYNC2LI1dynein cytoplasmic 2 light intermediate chain 1 | Nogle gange (5–29 %) | I 1 tilstand |
| EHMT1euchromatic histone lysine methyltransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| EIF2AK3eukaryotic translation initiation factor 2 alpha kinase 3 | Nogle gange (5–29 %) | I 2 tilstande |
| ELP1elongator acetyltransferase complex subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| EPAS1endothelial PAS domain protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ERAP1endoplasmic reticulum aminopeptidase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Nogle gange (5–29 %) | I 3 tilstande |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Nogle gange (5–29 %) | I 3 tilstande |
| EYA1EYA transcriptional coactivator and phosphatase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| F5coagulation factor V | Nogle gange (5–29 %) | I 1 tilstand |
| FAAP100FA core complex associated protein 100 | Nogle gange (5–29 %) | I 1 tilstand |
| FANCAFA complementation group A | Nogle gange (5–29 %) | I 1 tilstand |
| FANCBFA complementation group B | Nogle gange (5–29 %) | I 1 tilstand |
| FANCCFA complementation group C | Nogle gange (5–29 %) | I 1 tilstand |
| FANCD2FA complementation group D2 | Nogle gange (5–29 %) | I 1 tilstand |
| FANCEFA complementation group E | Nogle gange (5–29 %) | I 1 tilstand |
| FANCFFA complementation group F | Nogle gange (5–29 %) | I 1 tilstand |
| FANCGFA complementation group G | Nogle gange (5–29 %) | I 1 tilstand |
| FANCIFA complementation group I | Nogle gange (5–29 %) | I 1 tilstand |
| FANCLFA complementation group L | Nogle gange (5–29 %) | I 1 tilstand |
| FANCMFA complementation group M | Nogle gange (5–29 %) | I 1 tilstand |
| FASFas cell surface death receptor | Nogle gange (5–29 %) | I 2 tilstande |
| FBXO22F-box protein 22 | Nogle gange (5–29 %) | I 1 tilstand |
| FHfumarate hydratase | Nogle gange (5–29 %) | I 1 tilstand |
| FUZfuzzy planar cell polarity protein | Nogle gange (5–29 %) | I 1 tilstand |
| FXYD2FXYD domain containing ion transport regulator 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GCM2GCM transcription factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GPR35G protein-coupled receptor 35 | Nogle gange (5–29 %) | I 1 tilstand |
| GRHPRglyoxylate and hydroxypyruvate reductase | Nogle gange (5–29 %) | I 2 tilstande |
| HDAC8histone deacetylase 8 | Nogle gange (5–29 %) | I 1 tilstand |
| HLA-Bmajor histocompatibility complex, class I, B | Nogle gange (5–29 %) | I 3 tilstande |
| HLA-DPA1major histocompatibility complex, class II, DP alpha 1 | Nogle gange (5–29 %) | I 1 tilstand |
| HLA-DPB1major histocompatibility complex, class II, DP beta 1 | Nogle gange (5–29 %) | I 1 tilstand |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Nogle gange (5–29 %) | I 3 tilstande |
| HPSE2heparanase 2 (inactive) | Nogle gange (5–29 %) | I 1 tilstand |
| HRASHRas proto-oncogene, GTPase | Nogle gange (5–29 %) | I 1 tilstand |
| HSD11B2hydroxysteroid 11-beta dehydrogenase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| IFNGinterferon gamma | Nogle gange (5–29 %) | I 1 tilstand |
| IFNGR1interferon gamma receptor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| IFT172intraflagellar transport 172 | Nogle gange (5–29 %) | I 1 tilstand |
| IFT27intraflagellar transport 27 | Nogle gange (5–29 %) | I 1 tilstand |
| IFT80intraflagellar transport 80 | Nogle gange (5–29 %) | I 1 tilstand |
| IKZF1IKAROS family zinc finger 1 | Nogle gange (5–29 %) | I 1 tilstand |
| IL10interleukin 10 | Nogle gange (5–29 %) | I 1 tilstand |
| IL12Ainterleukin 12A | Nogle gange (5–29 %) | I 1 tilstand |
| IL12A-AS1IL12A antisense RNA 1 | Nogle gange (5–29 %) | I 1 tilstand |
| IL23Rinterleukin 23 receptor | Nogle gange (5–29 %) | I 1 tilstand |
| IL36RNinterleukin 36 receptor antagonist | Nogle gange (5–29 %) | I 1 tilstand |
| INPP5Einositol polyphosphate-5-phosphatase E | Nogle gange (5–29 %) | I 1 tilstand |
| IRF5interferon regulatory factor 5 | Nogle gange (5–29 %) | I 1 tilstand |
| JAK2Janus kinase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| KARS1lysyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| KIAA0586KIAA0586 | Nogle gange (5–29 %) | I 1 tilstand |
| KIAA0753KIAA0753 | Nogle gange (5–29 %) | I 1 tilstand |
| KIF1Bkinesin family member 1B | Nogle gange (5–29 %) | I 1 tilstand |
| KLRC4killer cell lectin like receptor C4 | Nogle gange (5–29 %) | I 1 tilstand |
| LHX1LIM homeobox 1 | Nogle gange (5–29 %) | I 1 tilstand |
| LRIG2leucine rich repeats and immunoglobulin like domains 2 | Nogle gange (5–29 %) | I 2 tilstande |
| MAD2L2mitotic arrest deficient 2 like 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MAU2MAU2 sister chromatid cohesion factor | Nogle gange (5–29 %) | I 1 tilstand |
| MAXMYC associated transcriptional regulator X | Nogle gange (5–29 %) | I 1 tilstand |
| MDH2malate dehydrogenase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MED12mediator complex subunit 12 | Nogle gange (5–29 %) | I 1 tilstand |
| MEN1menin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MMACHCmetabolism of cobalamin associated C | Nogle gange (5–29 %) | I 2 tilstande |
| MMP1matrix metallopeptidase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MMUTmethylmalonyl-CoA mutase | Nogle gange (5–29 %) | I 2 tilstande |
| MOCOSmolybdenum cofactor sulfurase | Nogle gange (5–29 %) | I 1 tilstand |
| MST1macrophage stimulating 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Nogle gange (5–29 %) | I 1 tilstand |
| MYD88MYD88 innate immune signal transduction adaptor | Nogle gange (5–29 %) | I 1 tilstand |
| NF1neurofibromin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NIPBLNIPBL cohesin loading factor | Nogle gange (5–29 %) | I 1 tilstand |
| NSD1nuclear receptor binding SET domain protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| OCLNoccludin | Nogle gange (5–29 %) | I 1 tilstand |
| OFD1OFD1 centriole and centriolar satellite protein | Nogle gange (5–29 %) | I 1 tilstand |
| P4HA2prolyl 4-hydroxylase subunit alpha 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PALB2partner and localizer of BRCA2 | Nogle gange (5–29 %) | I 1 tilstand |
| PAX6paired box 6 | Nogle gange (5–29 %) | I 1 tilstand |
| PEX7peroxisomal biogenesis factor 7 | Nogle gange (5–29 %) | I 1 tilstand |
| PGK1phosphoglycerate kinase 1 | Nogle gange (5–29 %) | I 2 tilstande |
| PHYHphytanoyl-CoA 2-hydroxylase | Nogle gange (5–29 %) | I 1 tilstand |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Nogle gange (5–29 %) | I 1 tilstand |
| PRTN3proteinase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Nogle gange (5–29 %) | I 2 tilstande |
| RAD21RAD21 cohesin complex component | Nogle gange (5–29 %) | I 1 tilstand |
| RAD51RAD51 recombinase | Nogle gange (5–29 %) | I 1 tilstand |
| RAD51CRAD51 paralog C | Nogle gange (5–29 %) | I 1 tilstand |
| RETret proto-oncogene | Nogle gange (5–29 %) | I 2 tilstande |
| RFWD3ring finger and WD repeat domain 3 | Nogle gange (5–29 %) | I 1 tilstand |
| RNU7-1RNA, U7 small nuclear 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SAA1serum amyloid A1 | Nogle gange (5–29 %) | I 1 tilstand |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Nogle gange (5–29 %) | I 1 tilstand |
| SDHAF2succinate dehydrogenase complex assembly factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Nogle gange (5–29 %) | I 2 tilstande |
| SDHCsuccinate dehydrogenase complex subunit C | Nogle gange (5–29 %) | I 1 tilstand |
| SDHDsuccinate dehydrogenase complex subunit D | Nogle gange (5–29 %) | I 2 tilstande |
| SEMA4Dsemaphorin 4D | Nogle gange (5–29 %) | I 1 tilstand |
| SIX1SIX homeobox 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SIX5SIX homeobox 5 | Nogle gange (5–29 %) | I 2 tilstande |
| SLC25A11solute carrier family 25 member 11 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC5A1solute carrier family 5 member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SLX4SLX4 structure-specific endonuclease subunit | Nogle gange (5–29 %) | I 1 tilstand |
| SMC1Astructural maintenance of chromosomes 1A | Nogle gange (5–29 %) | I 1 tilstand |
| SMC3structural maintenance of chromosomes 3 | Nogle gange (5–29 %) | I 1 tilstand |
| STSsteroid sulfatase | Nogle gange (5–29 %) | I 1 tilstand |
| TBX1T-box transcription factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TBX18T-box transcription factor 18 | Nogle gange (5–29 %) | I 1 tilstand |
| TCF4transcription factor 4 | Nogle gange (5–29 %) | I 1 tilstand |
| TLR4toll like receptor 4 | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM127transmembrane protein 127 | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM138transmembrane protein 138 | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM216transmembrane protein 216 | Nogle gange (5–29 %) | I 2 tilstande |
| TMEM231transmembrane protein 231 | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM237transmembrane protein 237 | Nogle gange (5–29 %) | I 2 tilstande |
| TSC1TSC complex subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TSC2TSC complex subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| TTC21Btetratricopeptide repeat domain 21B | Nogle gange (5–29 %) | I 1 tilstand |
| UBAC2UBA domain containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| UBE2Tubiquitin conjugating enzyme E2 T | Nogle gange (5–29 %) | I 1 tilstand |
| VANGL1VANGL planar cell polarity protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| VHLvon Hippel-Lindau tumor suppressor | Nogle gange (5–29 %) | I 2 tilstande |
| WDR19WD repeat domain 19 | Nogle gange (5–29 %) | I 1 tilstand |
| XIAPX-linked inhibitor of apoptosis | Nogle gange (5–29 %) | I 1 tilstand |
| XRCC2X-ray repair cross complementing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ZNF423zinc finger protein 423 | Nogle gange (5–29 %) | I 1 tilstand |
| ZNFX1zinc finger NFX1-type containing 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ACBD6acyl-CoA binding domain containing 6 | Sjældent (1–4%) | I 1 tilstand |
| CASP10caspase 10 | Sjældent (1–4%) | I 1 tilstand |
| FASLGFas ligand | Sjældent (1–4%) | I 1 tilstand |
| PBX1PBX homeobox 1 | Sjældent (1–4%) | I 1 tilstand |
| ALMS1ALMS1 centrosome and basal body associated protein | Ikke registreret | I 1 tilstand |
| APOEapolipoprotein E | Ikke registreret | I 1 tilstand |
| BBS10Bardet-Biedl syndrome 10 | Ikke registreret | I 1 tilstand |
| BSNDbarttin CLCNK type accessory subunit beta | Ikke registreret | I 1 tilstand |
| C3complement C3 | Ikke registreret | I 1 tilstand |
| CD2APCD2 associated protein | Ikke registreret | I 1 tilstand |
| CFIcomplement factor I | Ikke registreret | I 1 tilstand |
| CLCN5Cl-/H+ antiporter 5 | Ikke registreret | I 4 tilstande |
| CLCNKAchloride voltage-gated channel Ka | Ikke registreret | I 1 tilstand |
| CLCNKBchloride voltage-gated channel Kb | Ikke registreret | I 1 tilstand |
| CLDN10claudin 10 | Ikke registreret | I 1 tilstand |
| CRB2crumbs cell polarity complex component 2 | Ikke registreret | I 1 tilstand |
| FAHfumarylacetoacetate hydrolase | Ikke registreret | I 1 tilstand |
| GATMglycine amidinotransferase | Ikke registreret | I 1 tilstand |
| GSNgelsolin | Ikke registreret | I 1 tilstand |
| HBBhemoglobin subunit beta | Ikke registreret | I 1 tilstand |
| HOXA13homeobox A13 | Ikke registreret | I 1 tilstand |
| HPS1HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 | Ikke registreret | I 1 tilstand |
| ITGA3integrin subunit alpha 3 | Ikke registreret | I 1 tilstand |
| LCATlecithin-cholesterol acyltransferase | Ikke registreret | I 1 tilstand |
| LDHAlactate dehydrogenase A | Ikke registreret | I 1 tilstand |
| MLXIPLMLX interacting protein like | Ikke registreret | I 1 tilstand |
| NLRP3NLR family pyrin domain containing 3 | Ikke registreret | I 1 tilstand |
| NOTCH2notch receptor 2 | Ikke registreret | I 1 tilstand |
| NPHS1NPHS1 adhesion molecule, nephrin | Ikke registreret | I 1 tilstand |
| PGAM2phosphoglycerate mutase 2 | Ikke registreret | I 1 tilstand |
| PRDX1peroxiredoxin 1 | Ikke registreret | I 1 tilstand |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Ikke registreret | I 1 tilstand |
| SLC37A4solute carrier family 37 member 4 | Ikke registreret | I 1 tilstand |
| SLC3A1solute carrier family 3 member 1 | Ikke registreret | I 1 tilstand |
| SLC7A9solute carrier family 7 member 9 | Ikke registreret | I 1 tilstand |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Ikke registreret | I 1 tilstand |
| SOX18SRY-box transcription factor 18 | Ikke registreret | I 1 tilstand |
| TMEM260transmembrane protein 260 | Ikke registreret | I 1 tilstand |
| WDR35WD repeat domain 35 | 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 2026.10.19-9814e911.
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