AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Tunnus
Long philtrum
Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.
Kokkuvõte
- Teised nimetused
- Elongated philtrum, Increased height of philtrum, Increased length of philtrum, Increased vertical dimension of philtrum, Vertical hyperplasia of philtrum
- Kehasüsteem
- Abnormality of head or neck
AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Selle lehe andmed
Lehe aadressile saab lisada .json või päringusse application/json, et lugeda seda JSON-vormingus.
library(jsonlite)
url <- "https://dantelabs.com/traits/long-philtrum.json"
page <- fromJSON(url)
page$trait$nameLong philtrumHP:0000343
AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Lugege välja geenid, mis on seotud Long philtrum-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test185 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.
- Bardet-Biedl and Alström SyndromesReads 22 of these genesARL6BBIP1BBS1BBS10BBS12BBS2About this report →
- Intellectual DisabilityReads 53 of these genesANKRD11CDK10CHD8KDM6BNSD2PRMT7About this report →
- Cutis LaxaReads 12 of these genesATP6V0A2ATP6V1E1EFEMP1LTBP4RIN2ATP6V1AAbout this report →
- Noonan SyndromeReads 12 of these genesBRAFKRASMAP2K1MAP2K2ERFLZTR1About this report →
Show 181 more reports
- Cornelia de Lange SyndromeReads 6 of these genesBRD4HDAC8NIPBLRAD21SMC1ASMC3About this report →
- Congenital Disorders of GlycosylationReads 23 of these genesATP6V0A2B3GAT3CHST14B3GLCTDSEPIGNAbout this report →
- Epilepsy (Full Panel)Reads 25 of these genesPIGQRNU2-2WWOXATP6V1AATP6V1B2SMC1AAbout this report →
- Hypertrophic CardiomyopathyReads 13 of these genesALPK3BRAFKRASMAP2K1MAP2K2NSD1About this report →
- Achondrogenesis panelReads 3 of these genesCOL2A1SLC26A2TRIP11About this report →
- NeurofibromatosisReads 3 of these genesSMARCB1LZTR1NF1About this report →
- Syndromic CraniosynostosisReads 7 of these genesFGFR1SKIWDR35ERFMEGF8FGFR2About this report →
- Coffin-Siris SyndromeReads 5 of these genesARID2SMARCB1ARID1AARID1BSMARCA4About this report →
- Cantú SyndromeReads 2 of these genesABCC9KCNJ8About this report →
- Carey-Fineman-Ziter SyndromeReads 2 of these genesMYMXMYMKAbout this report →
- DOORS SyndromeReads 2 of these genesATP6V1B2TBC1D24About this report →
- Hereditary Multiple OsteochondromasReads 2 of these genesEXT1EXT2About this report →
- Otospondylomegaepiphyseal Dysplasia (OSMED)Reads 2 of these genesCOL2A1COL11A2About this report →
- Syndromic Complex Neurodevelopmental DisorderReads 6 of these genesPAN2SETD5BRPF1ZFXTBCKNFIBAbout this report →
- Osteogenesis ImperfectaReads 7 of these genesATP6V0A2NBASBMP1POLR3APYCR1XYLT2About this report →
- Rhabdoid Tumour and SWI/SNF Tumour PredispositionReads 2 of these genesSMARCB1SMARCA4About this report →
- Lissencephaly Spectrum DisordersReads 5 of these genesRAB3GAP2ACTBACTG1TBC1D20ARXAbout this report →
- Inherited ThrombocytopeniasReads 6 of these genesACTBFLI1GP1BBRAP1BCDC42GNEAbout this report →
- Epiphyseal and Spondyloepiphyseal DysplasiasReads 3 of these genesCOL2A1SLC26A2XYLT1About this report →
- Molybdenum Cofactor & Isolated Sulfite Oxidase DeficiencyReads 2 of these genesMOCS1MOCS2About this report →
- Overgrowth Syndromes (Sotos, Weaver, Tatton-Brown-Rahman, Malan)Reads 2 of these genesEZH2NSD1About this report →
- 22q11.2 Deletion SyndromeReads 1 of these genesTBX1About this report →
- Aarskog-Scott SyndromeReads 1 of these genesFGD1About this report →
- Alzahrani-Kuwahara SyndromeReads 1 of these genesSMG8About this report →
- Asphyxiating Thoracic Dystrophy 2 (IFT80)Reads 1 of these genesIFT80About this report →
- BAP1 Tumour Predisposition SyndromeReads 1 of these genesBAP1About this report →
- Beck-Fahrner SyndromeReads 1 of these genesTET3About this report →
- Bent Bone Dysplasia Syndrome (FGFR2)Reads 1 of these genesFGFR2About this report →
- BRAT1-Related Neurodevelopmental Disorder with Cerebellar AtrophyReads 1 of these genesBRAT1About this report →
- Bryant-Li-Bhoj Neurodevelopmental Syndrome (H3-3A)Reads 1 of these genesH3-3AAbout this report →
- Campomelic DysplasiaReads 1 of these genesSOX9About this report →
- CDH2-Related ACOGSReads 1 of these genesCDH2About this report →
- CEP290-Related CiliopathyReads 1 of these genesCEP290About this report →
- CHRNG-Related Multiple Pterygium SyndromeReads 1 of these genesCHRNGAbout this report →
- Chung-Jansen Syndrome (PHIP)Reads 1 of these genesPHIPAbout this report →
- CTNNB1 SyndromeReads 1 of these genesCTNNB1About this report →
- Desbuquois Dysplasia 1Reads 1 of these genesCANT1About this report →
- Dias-Logan SyndromeReads 1 of these genesBCL11AAbout this report →
- Dravet SyndromeReads 1 of these genesSCN1AAbout this report →
- Dyssegmental Dysplasia, Silverman-Handmaker TypeReads 1 of these genesHSPG2About this report →
- Elsahy-Waters SyndromeReads 1 of these genesCDH11About this report →
- Feingold Syndrome Type 1Reads 1 of these genesMYCNAbout this report →
- Floating-Harbor SyndromeReads 1 of these genesSRCAPAbout this report →
- FOXP2-Related Speech and Language DisorderReads 1 of these genesFOXP2About this report →
- GAPO SyndromeReads 1 of these genesANTXR1About this report →
- GM1 Gangliosidosis and Morquio B SyndromeReads 1 of these genesGLB1About this report →
- Hajdu-Cheney SyndromeReads 1 of these genesNOTCH2About this report →
- IFT140-Related CiliopathyReads 1 of these genesIFT140About this report →
- Intracranial Berry AneurysmReads 1 of these genesTHSD1About this report →
- Jeune Asphyxiating Thoracic Dystrophy (DYNC2H1)Reads 1 of these genesDYNC2H1About this report →
- Johanson-Blizzard SyndromeReads 1 of these genesUBR1About this report →
- KAT6B-Related DisordersReads 1 of these genesKAT6BAbout this report →
- KCNH1-Related DisorderReads 1 of these genesKCNH1About this report →
- Klippel-Feil Anomaly with Myopathy (MYO18B)Reads 1 of these genesMYO18BAbout this report →
- Labyrinthine Aplasia, Microtia and Microdontia (LAMM)Reads 1 of these genesFGF3About this report →
- MTX2-Related Mandibuloacral DysplasiaReads 1 of these genesMTX2About this report →
- OpsismodysplasiaReads 1 of these genesINPPL1About this report →
- Phenylketonuria (PKU)Reads 1 of these genesPAHAbout this report →
- POLR3A-Related DisorderReads 1 of these genesPOLR3AAbout this report →
- PPP1R21-Related Neurodevelopmental DisorderReads 1 of these genesPPP1R21About this report →
- Primary Failure of Tooth EruptionReads 1 of these genesPTH1RAbout this report →
- Primary Microcephaly 26 (LMNB1)Reads 1 of these genesLMNB1About this report →
- Radio-Tartaglia SyndromeReads 1 of these genesSPENAbout this report →
- RNU4ATAC Spectrum DisorderReads 1 of these genesRNU4ATACAbout this report →
- Schwartz-Jampel Syndrome Type 1Reads 1 of these genesHSPG2About 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 →
- Smith-Lemli-Opitz SyndromeReads 1 of these genesDHCR7About this report →
- Spondylo-Meta-Epiphyseal Dysplasia, Short Limb-Abnormal Calcification TypeReads 1 of these genesDDR2About this report →
- Spondyloepiphyseal Dysplasia With Congenital Joint DislocationsReads 1 of these genesCHST3About this report →
- TMEM94-Related Intellectual Disability with Heart DefectsReads 1 of these genesTMEM94About this report →
- TRAPPC4-Related Neurodevelopmental DisorderReads 1 of these genesTRAPPC4About this report →
- TRIM8-Related Neurodevelopmental and Kidney DisorderReads 1 of these genesTRIM8About this report →
- Vici SyndromeReads 1 of these genesEPG5About this report →
- Wiedemann-Steiner SyndromeReads 1 of these genesKMT2AAbout this report →
- X-Linked Opitz G/BBB SyndromeReads 1 of these genesMID1About this report →
- Inherited Neurodegenerative DisordersReads 19 of these genesNALCNPEX26TBCEWWOXSNX14AARS1About this report →
- Microphthalmia, Anophthalmia & ColobomaReads 5 of these genesBCORRAB3GAP2COX7BMAB21L2TBC1D20About this report →
- HyperinsulinismReads 3 of these genesPMM2ABCC8KCNJ11About this report →
- Polycystic Kidney DiseaseReads 3 of these genesIFT140ALG8ALG9About this report →
- Congenital MyopathiesReads 4 of these genesACTA1KLHL41NEBTPM3About this report →
- GPI Anchor Biosynthesis DefectsReads 4 of these genesPIGQPIGNPIGTPIGBAbout this report →
- Mosaic Variegated Aneuploidy SyndromeReads 2 of these genesSLF2BUB1BAbout this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 5 of these genesTOR1AWARS2ACTBTAF1SLC2A1About this report →
- Inherited Congenital Heart DefectsReads 3 of these genesTBX5ELNFLNAAbout this report →
- VitreoretinopathyReads 4 of these genesCOL2A1COL11A1CTNNB1XYLT2About this report →
- Diabetes MellitusReads 4 of these genesABCC8KCNJ11EIF2S3GLIS3About this report →
- Hereditary Sideroblastic AnaemiasReads 2 of these genesPUS1YARS2About this report →
- Alagille SyndromeReads 1 of these genesNOTCH2About this report →
- Cerebral Arteriopathy with Subcortical Infarcts and LeukoencephalopathyReads 1 of these genesNOTCH3About this report →
- Cowden Syndrome (PTEN hamartoma tumour syndrome)Reads 1 of these genesPTENAbout this report →
- Dent Disease and Lowe SyndromeReads 1 of these genesOCRLAbout this report →
- Fontaine Progeroid SyndromeReads 1 of these genesSLC25A24About this report →
- Müllerian Aplasia (MRKH Syndrome)Reads 1 of these genesTBX6About this report →
- Nevoid Basal Cell Carcinoma (Gorlin) SyndromeReads 1 of these genesPTCH1About this report →
- Pseudoxanthoma ElasticumReads 1 of these genesGGCXAbout this report →
- TRIP11-Related Skeletal DysplasiaReads 1 of these genesTRIP11About this report →
- Retinitis PigmentosaReads 6 of these genesIFT140ARL6BBS2CFAP418IFT172TTC8About this report →
- Neonatal Diabetes MellitusReads 3 of these genesABCC8KCNJ11GLIS3About this report →
- Pyruvate Dehydrogenase & Pyruvate Carboxylase DeficiencyReads 2 of these genesMPC1PDHA1About this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 5 of these genesWWOXSNX14CEP290MKS1SYNE1About this report →
- Joubert Syndrome And Related DisordersReads 4 of these genesCEP290KIF7MKS1NPHP1About this report →
- Rare Hereditary Peripheral NeuropathiesReads 10 of these genesPEX26CLCF1CRLF1AARS1ATP7AEMILIN1About this report →
- Ehlers-Danlos SyndromeReads 3 of these genesCHST14DSEB3GALT6About this report →
- Lysosomal Storage DiseaseReads 5 of these genesARSKCLCN6GLB1GNEGNPTABAbout this report →
- Marfan Like SyndromesReads 2 of these genesFBN1SKIAbout this report →
- Other Inborn Errors of ImmunityReads 9 of these genesAP3B1KRASNBASNCF1RELBCL11BAbout this report →
- Maturity-Onset Diabetes Of The YoungReads 2 of these genesABCC8KCNJ11About this report →
- Disorder of Copper MetabolismReads 1 of these genesATP7AAbout this report →
- Familial Hemiplegic MigraineReads 1 of these genesSCN1AAbout this report →
- Immuno-Osseous DysplasiasReads 1 of these genesRNU4ATACAbout this report →
- Monogenic Precocious PubertyReads 1 of these genesDLK1About this report →
- Mucolipidoses (ML II, ML III and ML IV)Reads 1 of these genesGNPTABAbout this report →
- Other Inherited LeukodystrophiesReads 5 of these genesPEX26AARS1POLR3ALMNB1PYCR2About this report →
- Complex Cortical Dysplasia and Frontoparietal PolymicrogyriaReads 2 of these genesTUBBKIF26AAbout this report →
- Hearing Loss and DeafnessReads 5 of these genesKARS1ACTG1COL11A1COL11A2TBC1D24About this report →
- Primary Lymphoedema & Lymphatic MalformationsReads 2 of these genesTHSD1KIF11About this report →
- Adult-Onset Leukodystrophies (CSF1R, LMNB1, Nasu-Hakola)Reads 1 of these genesLMNB1About this report →
- Complex Neurodevelopmental Disorder (TRRAP, MYH10, RERE, SOX11)Reads 1 of these genesREREAbout this report →
- Familial Atrial FibrillationReads 1 of these genesGJA5About this report →
- Hereditary Gastrointestinal Stromal TumourReads 1 of these genesKITAbout this report →
- Polycystic Liver Disease (1 and 2)Reads 1 of these genesALG8About this report →
- Pseudohypoparathyroidism & GNAS-Inactivation DisordersReads 1 of these genesPDE4DAbout this report →
- TubulinopathiesReads 1 of these genesTUBBAbout this report →
- Nephronophthisis and Senior-Løken SyndromeReads 2 of these genesNPHP1SDCCAG8About this report →
- MTOR Pathway Megalencephaly and Overgrowth DisordersReads 1 of these genesMTORAbout this report →
- Periventricular Nodular HeterotopiaReads 1 of these genesFLNAAbout this report →
- Autoimmune DiseaseReads 2 of these genesKRASCHRNGAbout this report →
- Hereditary Sensory and Autonomic Neuropathies (incl. Familial Dysautonomia)Reads 2 of these genesCLCF1CRLF1About this report →
- Dilated CardiomyopathyReads 3 of these genesABCC9PRDM16SYNE1About this report →
- Chronic Granulomatous DiseaseReads 1 of these genesNCF1About this report →
- Growth Hormone Insensitivity & IGF-1 Axis DisordersReads 1 of these genesIGF1RAbout this report →
- Hereditary Visceral Myopathy, CIPO & MMIHSReads 1 of these genesFLNAAbout this report →
- Peroxisomal Enzyme Disorders & Refsum DiseaseReads 1 of these genesHSD17B4About this report →
- Pelizaeus-Merzbacher Disease & Hypomyelinating LeukodystrophiesReads 2 of these genesPOLR3APYCR2About this report →
- Spinal Muscular AtrophyReads 2 of these genesATP7AEMILIN1About this report →
- Autoimmune Lymphoproliferative Syndrome (ALPS)Reads 1 of these genesKRASAbout this report →
- Colorectal Cancer & PolyposisReads 1 of these genesAPCAbout this report →
- Congenital Adrenal HyperplasiaReads 1 of these genesPORAbout this report →
- Ellis-van Creveld Syndrome and Cranioectodermal DysplasiaReads 1 of these genesWDR35About this report →
- Monogenic Obesity (Leptin-Melanocortin Pathway)Reads 1 of these genesCEP19About this report →
- Waardenburg SyndromeReads 1 of these genesSNAI2About this report →
- Leigh SyndromeReads 3 of these genesFBXL4HPDLPDHA1About this report →
- Severe Combined ImmunodeficiencyReads 2 of these genesBCL11BPRKDCAbout this report →
- GlaucomaReads 1 of these genesEFEMP1About this report →
- Hepatic Porphyria DisordersReads 1 of these genesHMBSAbout this report →
- Purine & Pyrimidine Metabolism DisordersReads 1 of these genesADSLAbout this report →
- Primary Mitochondrial DiseaseReads 4 of these genesDNAJC30FBXL4NARS2TMEM70About this report →
- Charcot-Marie-Tooth DiseaseReads 3 of these genesAARS1ATP7AEMILIN1About this report →
- Hereditary Palmoplantar Keratodermas and Pachyonychia CongenitaReads 2 of these genesNLRP1GJA1About this report →
- Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)Reads 2 of these genesCAMTA1ATN1About this report →
- Autism Spectrum DisorderReads 1 of these genesCHD8About this report →
- Imprinting Disorders: Prader-Willi, Silver-Russell and Beckwith-WiedemannReads 1 of these genesNSD1About this report →
- Inherited Platelet Function DisordersReads 1 of these genesGP1BBAbout this report →
- Kidney CancerReads 1 of these genesBAP1About this report →
- PorphyriaReads 1 of these genesHMBSAbout this report →
- Hereditary Macular DystrophiesReads 1 of these genesEFEMP1About this report →
- Meckel SyndromeReads 1 of these genesMKS1About this report →
- Rare Inherited Coagulation Factor DeficienciesReads 1 of these genesGGCXAbout this report →
- DNA Repair DiseaseReads 2 of these genesNBNERCC6About this report →
- Arrhythmogenic CardiomyopathyReads 1 of these genesCDH2About this report →
- Hermansky-Pudlak SyndromeReads 1 of these genesAP3B1About this report →
- Urinary and Renal System TumourReads 1 of these genesBAP1About this report →
- Hypogonadotropic HypogonadismReads 2 of these genesFGFR1RAB3GAP2About this report →
- Aortic AneurysmReads 1 of these genesFBN1About this report →
- Neuronal Ceroid LipofuscinosisReads 1 of these genesCLCN6About this report →
- OsteopetrosisReads 1 of these genesOSTM1About this report →
- Zellweger Spectrum & Peroxisome Biogenesis DisordersReads 1 of these genesPEX26About this report →
- Distal MyopathiesReads 1 of these genesGNEAbout this report →
- Hereditary Corneal DystrophiesReads 1 of these genesNLRP1About this report →
- Leber Congenital Amaurosis & RPE65-Related RetinopathyReads 1 of these genesCEP290About this report →
- Pontocerebellar Hypoplasia (TSEN54 and MINPP1)Reads 1 of these genesPCLOAbout this report →
- Hereditary Congenital & Juvenile CataractReads 1 of these genesMAFAbout this report →
- Non-Acquired Combined Pituitary Hormone DeficiencyReads 1 of these genesPTCH1About this report →
- Congenital Myasthenic SyndromeReads 1 of these genesMUSKAbout this report →
- Limb-Girdle Muscular DystrophyReads 1 of these genesTRIM32About this report →
- Rare Monogenic Autoinflammatory DiseasesReads 1 of these genesSKIC3About this report →
- Male InfertilityReads 1 of these genesFKBP6About this report →
- Female InfertilityReads 1 of these genesHSD17B4About this report →
- Hereditary Spastic ParaplegiaReads 1 of these genesHPDLAbout this report →
Lugege välja geenid, mis on seotud Long philtrum-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test460 geeni on seotud tunnusega Long philtrum
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Long philtrum. 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 |
|---|---|---|
| ALPK3alpha kinase 3 | Alati | Esineb 1 haiguses |
| ANKRD11ankyrin repeat domain 11 | Alati | Esineb 3 haiguses |
| ANTXR1ANTXR cell adhesion molecule 1 | Alati | Esineb 2 haiguses |
| AP3B1adaptor related protein complex 3 subunit beta 1 | Alati | Esineb 1 haiguses |
| ARID2AT-rich interaction domain 2 | Alati | Esineb 1 haiguses |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Alati | Esineb 4 haiguses |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Alati | Esineb 2 haiguses |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Alati | Esineb 1 haiguses |
| BCORBCL6 corepressor | Alati | Esineb 2 haiguses |
| BMP2bone morphogenetic protein 2 | Alati | Esineb 2 haiguses |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Alati | Esineb 2 haiguses |
| CDC6cell division cycle 6 | Alati | Esineb 1 haiguses |
| CDK10cyclin dependent kinase 10 | Alati | Esineb 1 haiguses |
| CEP295centrosomal protein 295 | Alati | Esineb 1 haiguses |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Alati | Esineb 1 haiguses |
| CHD8chromodomain helicase DNA binding protein 8 | Alati | Esineb 1 haiguses |
| CHST14carbohydrate sulfotransferase 14 | Alati | Esineb 2 haiguses |
| CHST3carbohydrate sulfotransferase 3 | Alati | Esineb 3 haiguses |
| COL2A1collagen type II alpha 1 chain | Alati | Esineb 3 haiguses |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Alati | Esineb 1 haiguses |
| EFEMP1EGF-like fibulin extracellular matrix protein 1 | Alati | Esineb 1 haiguses |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Alati | Esineb 1 haiguses |
| EXOSC1exosome component 1 | Alati | Esineb 1 haiguses |
| EXOSC2exosome component 2 | Alati | Esineb 1 haiguses |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Alati | Esineb 2 haiguses |
| FGFR1fibroblast growth factor receptor 1 | Alati | Esineb 2 haiguses |
| GGCXgamma-glutamyl carboxylase | Alati | Esineb 1 haiguses |
| IFT140intraflagellar transport 140 | Alati | Esineb 1 haiguses |
| IRX5iroquois homeobox 5 | Alati | Esineb 1 haiguses |
| JKAMPJNK1/MAPK8 associated membrane protein | Alati | Esineb 1 haiguses |
| KARS1lysyl-tRNA synthetase 1 | Alati | Esineb 1 haiguses |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Alati | Esineb 3 haiguses |
| KDM6Blysine demethylase 6B | Alati | Esineb 1 haiguses |
| KRASKRas proto-oncogene, GTPase | Alati | Esineb 2 haiguses |
| LTBP4latent transforming growth factor beta binding protein 4 | Alati | Esineb 1 haiguses |
| MAB21L1mab-21 like 1 | Alati | Esineb 2 haiguses |
| MAP2K1mitogen-activated protein kinase kinase 1 | Alati | Esineb 2 haiguses |
| MAP2K2mitogen-activated protein kinase kinase 2 | Alati | Esineb 2 haiguses |
| MARS2methionyl-tRNA synthetase 2, mitochondrial | Alati | Esineb 1 haiguses |
| MOCS3molybdenum cofactor synthesis 3 | Alati | Esineb 1 haiguses |
Näita veel 420 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| MRPS28mitochondrial ribosomal protein S28 | Alati | Esineb 1 haiguses |
| MTORmechanistic target of rapamycin kinase | Alati | Esineb 2 haiguses |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Alati | Esineb 1 haiguses |
| MYH3myosin heavy chain 3 | Alati | Esineb 3 haiguses |
| MYMXmyomixer, myoblast fusion factor | Alati | Esineb 2 haiguses |
| NALCNsodium leak channel, non-selective | Alati | Esineb 3 haiguses |
| NBNnibrin | Alati | Esineb 1 haiguses |
| NLRP1NLR family pyrin domain containing 1 | Alati | Esineb 1 haiguses |
| NOTCH2notch receptor 2 | Alati | Esineb 2 haiguses |
| NSD2nuclear receptor binding SET domain protein 2 | Alati | Esineb 1 haiguses |
| NXNnucleoredoxin | Alati | Esineb 2 haiguses |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Alati | Esineb 1 haiguses |
| PEX26peroxisomal biogenesis factor 26 | Alati | Esineb 1 haiguses |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Alati | Esineb 1 haiguses |
| PKDCCprotein kinase domain containing, cytoplasmic | Alati | Esineb 1 haiguses |
| POC1APOC1 centriolar protein A | Alati | Esineb 1 haiguses |
| PPP2R3Cprotein phosphatase 2 regulatory subunit B''gamma | Alati | Esineb 1 haiguses |
| PRMT7protein arginine methyltransferase 7 | Alati | Esineb 2 haiguses |
| PUF60poly(U) binding splicing factor 60 | Alati | Esineb 3 haiguses |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Alati | Esineb 1 haiguses |
| RAC3Rac family small GTPase 3 | Alati | Esineb 1 haiguses |
| RIN2Ras and Rab interactor 2 | Alati | Esineb 2 haiguses |
| RNU2-2RNA, U2 small nuclear 2 | Alati | Esineb 1 haiguses |
| RNU4ATACRNA, U4atac small nuclear | Alati | Esineb 2 haiguses |
| RPL10ribosomal protein L10 | Alati | Esineb 2 haiguses |
| SATB2SATB homeobox 2 | Alati | Esineb 4 haiguses |
| SC5Dsterol-C5-desaturase | Alati | Esineb 2 haiguses |
| SCAF4SR-related CTD associated factor 4 | Alati | Esineb 1 haiguses |
| SEC23ASEC23 homolog A, COPII component | Alati | Esineb 2 haiguses |
| SETD5SET domain containing 5 | Alati | Esineb 2 haiguses |
| SIN3ASIN3 transcription regulator family member A | Alati | Esineb 2 haiguses |
| SLC6A17solute carrier family 6 member 17 | Alati | Esineb 2 haiguses |
| SPOUT1SPOUT domain containing methyltransferase 1 | Alati | Esineb 1 haiguses |
| TAF8TATA-box binding protein associated factor 8 | Alati | Esineb 1 haiguses |
| TBCEtubulin folding cofactor E | Alati | Esineb 2 haiguses |
| TBX5T-box transcription factor 5 | Alati | Esineb 1 haiguses |
| TOR1Atorsin family 1 member A | Alati | Esineb 1 haiguses |
| TRPS1transcriptional repressor GATA binding 1 | Alati | Esineb 4 haiguses |
| UBAP2Lubiquitin associated protein 2 like | Alati | Esineb 1 haiguses |
| UBR1ubiquitin protein ligase E3 component n-recognin 1 | Alati | Esineb 1 haiguses |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Alati | Esineb 1 haiguses |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Alati | Esineb 1 haiguses |
| WWOXWW domain containing oxidoreductase | Alati | Esineb 1 haiguses |
| YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | Alati | Esineb 1 haiguses |
| ABCC9ATP binding cassette subfamily C member 9 | Väga sageli (80–99%) | Esineb 2 haiguses |
| ACTBactin beta | Väga sageli (80–99%) | Esineb 2 haiguses |
| ACTG1actin gamma 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| ADAMTSL2ADAMTS like 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| ADSLadenylosuccinate lyase | Väga sageli (80–99%) | Esineb 2 haiguses |
| ATP6V1AATPase H+ transporting V1 subunit A | Väga sageli (80–99%) | Esineb 1 haiguses |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| B3GLCTbeta 3-glucosyltransferase | Väga sageli (80–99%) | Esineb 2 haiguses |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Väga sageli (80–99%) | Esineb 1 haiguses |
| BCL11ABCL11 transcription factor A | Väga sageli (80–99%) | Esineb 1 haiguses |
| BRD4bromodomain containing 4 | Väga sageli (80–99%) | Esineb 2 haiguses |
| BRPF1bromodomain and PHD finger containing 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Väga sageli (80–99%) | Esineb 1 haiguses |
| CASZ1castor zinc finger 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CD96CD96 molecule | Väga sageli (80–99%) | Esineb 1 haiguses |
| CLCF1cardiotrophin like cytokine factor 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CLIP2CAP-Gly domain containing linker protein 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| COL11A1collagen type XI alpha 1 chain | Väga sageli (80–99%) | Esineb 3 haiguses |
| COL11A2collagen type XI alpha 2 chain | Väga sageli (80–99%) | Esineb 1 haiguses |
| CRLF1cytokine receptor like factor 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Väga sageli (80–99%) | Esineb 1 haiguses |
| DSEdermatan sulfate epimerase | Väga sageli (80–99%) | Esineb 2 haiguses |
| DVL1dishevelled segment polarity protein 1 | Väga sageli (80–99%) | Esineb 3 haiguses |
| EIF4Heukaryotic translation initiation factor 4H | Väga sageli (80–99%) | Esineb 1 haiguses |
| ELNelastin | Väga sageli (80–99%) | Esineb 3 haiguses |
| EXT1exostosin glycosyltransferase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| FBN1fibrillin 1 | Väga sageli (80–99%) | Esineb 4 haiguses |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Väga sageli (80–99%) | Esineb 1 haiguses |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Väga sageli (80–99%) | Esineb 1 haiguses |
| GPC6glypican 6 | Väga sageli (80–99%) | Esineb 2 haiguses |
| GTF2Igeneral transcription factor IIi | Väga sageli (80–99%) | Esineb 1 haiguses |
| GTF2IRD1GTF2I repeat domain containing 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| GTF2IRD2GTF2I repeat domain containing 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| HDAC8histone deacetylase 8 | Väga sageli (80–99%) | Esineb 2 haiguses |
| HSPG2heparan sulfate proteoglycan 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| KCNJ8potassium inwardly rectifying channel subfamily J member 8 | Väga sageli (80–99%) | Esineb 1 haiguses |
| LIMK1LIM domain kinase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| LTBP1latent transforming growth factor beta binding protein 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| LTBP3latent transforming growth factor beta binding protein 3 | Väga sageli (80–99%) | Esineb 3 haiguses |
| LUZP1leucine zipper protein 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MAU2MAU2 sister chromatid cohesion factor | Väga sageli (80–99%) | Esineb 2 haiguses |
| METTL27methyltransferase like 27 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MID1midline 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MMP23Bmatrix metallopeptidase 23B | Väga sageli (80–99%) | Esineb 1 haiguses |
| MYMKmyomaker, myoblast fusion factor | Väga sageli (80–99%) | Esineb 1 haiguses |
| NBASNBAS subunit of NRZ tethering complex | Väga sageli (80–99%) | Esineb 1 haiguses |
| NCF1neutrophil cytosolic factor 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NIPBLNIPBL cohesin loading factor | Väga sageli (80–99%) | Esineb 2 haiguses |
| NSD1nuclear receptor binding SET domain protein 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PDPNpodoplanin | Väga sageli (80–99%) | Esineb 1 haiguses |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Väga sageli (80–99%) | Esineb 2 haiguses |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Väga sageli (80–99%) | Esineb 2 haiguses |
| PRDM16PR/SET domain 16 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PRKCZprotein kinase C zeta | Väga sageli (80–99%) | Esineb 1 haiguses |
| PUS1pseudouridine synthase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RAD21RAD21 cohesin complex component | Väga sageli (80–99%) | Esineb 3 haiguses |
| RELREL proto-oncogene, NF-kB subunit | Väga sageli (80–99%) | Esineb 1 haiguses |
| REREarginine-glutamic acid dipeptide repeats | Väga sageli (80–99%) | Esineb 1 haiguses |
| RFC2replication factor C subunit 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RNF135ring finger protein 135 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SKISKI proto-oncogene | Väga sageli (80–99%) | Esineb 1 haiguses |
| SLC26A2solute carrier family 26 member 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| SMC1Astructural maintenance of chromosomes 1A | Väga sageli (80–99%) | Esineb 1 haiguses |
| SMC3structural maintenance of chromosomes 3 | Väga sageli (80–99%) | Esineb 2 haiguses |
| SNX14sorting nexin 14 | Väga sageli (80–99%) | Esineb 2 haiguses |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Väga sageli (80–99%) | Esineb 2 haiguses |
| SPENspen family transcriptional repressor | Väga sageli (80–99%) | Esineb 2 haiguses |
| STX1Asyntaxin 1A | Väga sageli (80–99%) | Esineb 1 haiguses |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Väga sageli (80–99%) | Esineb 1 haiguses |
| TBC1D24TBC1 domain family member 24 | Väga sageli (80–99%) | Esineb 2 haiguses |
| TBL2transducin beta like 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TMEM270transmembrane protein 270 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TRIP11thyroid hormone receptor interactor 11 | Väga sageli (80–99%) | Esineb 2 haiguses |
| UBE4Bubiquitination factor E4B | Väga sageli (80–99%) | Esineb 1 haiguses |
| VPS37DVPS37D subunit of ESCRT-I | Väga sageli (80–99%) | Esineb 1 haiguses |
| XPO1exportin 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| YARS2tyrosyl-tRNA synthetase 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| AARS1alanyl-tRNA synthetase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ADNPactivity dependent neuroprotector homeobox | Sageli (30–79%) | Esineb 1 haiguses |
| AFF4ALF transcription elongation factor 4 | Sageli (30–79%) | Esineb 2 haiguses |
| AHDC1AT-hook DNA binding motif containing 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Sageli (30–79%) | Esineb 1 haiguses |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Sageli (30–79%) | Esineb 1 haiguses |
| APCAPC regulator of Wnt signaling pathway | Sageli (30–79%) | Esineb 1 haiguses |
| ARSKarylsulfatase family member K | Sageli (30–79%) | Esineb 1 haiguses |
| ARVCFARVCF delta catenin family member | Sageli (30–79%) | Esineb 1 haiguses |
| ATP7AATPase copper transporting alpha | Sageli (30–79%) | Esineb 2 haiguses |
| B3GALT6beta-1,3-galactosyltransferase 6 | Sageli (30–79%) | Esineb 2 haiguses |
| BAP1BRCA1 associated deubiquitinase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| BCL11BBCL11 transcription factor B | Sageli (30–79%) | Esineb 1 haiguses |
| BMP1bone morphogenetic protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| BRCC3BRCA1/BRCA2-containing complex subunit 3 | Sageli (30–79%) | Esineb 1 haiguses |
| CAMTA1calmodulin binding transcription activator 1 | Sageli (30–79%) | Esineb 2 haiguses |
| CANT1calcium activated nucleotidase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| CASKcalcium/calmodulin dependent serine protein kinase | Sageli (30–79%) | Esineb 2 haiguses |
| CCDC8coiled-coil domain containing 8 subunit of 3M complex | Sageli (30–79%) | Esineb 2 haiguses |
| CCNKcyclin K | Sageli (30–79%) | Esineb 1 haiguses |
| CLCN6Cl-/H+ antiporter 6 | Sageli (30–79%) | Esineb 1 haiguses |
| COG1component of oligomeric golgi complex 1 | Sageli (30–79%) | Esineb 2 haiguses |
| COMTcatechol-O-methyltransferase | Sageli (30–79%) | Esineb 1 haiguses |
| CPLX1complexin 1 | Sageli (30–79%) | Esineb 1 haiguses |
| CREBBPCREB binding lysine acetyltransferase | Sageli (30–79%) | Esineb 1 haiguses |
| CUL7cullin 7 | Sageli (30–79%) | Esineb 2 haiguses |
| DBR1debranching RNA lariats 1 | Sageli (30–79%) | Esineb 1 haiguses |
| DDR2discoidin domain receptor tyrosine kinase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| DHCR77-dehydrocholesterol reductase | Sageli (30–79%) | Esineb 2 haiguses |
| DVL3dishevelled segment polarity protein 3 | Sageli (30–79%) | Esineb 2 haiguses |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Sageli (30–79%) | Esineb 1 haiguses |
| DYNC2I1dynein 2 intermediate chain 1 | Sageli (30–79%) | Esineb 1 haiguses |
| DYNC2I2dynein 2 intermediate chain 2 | Sageli (30–79%) | Esineb 1 haiguses |
| EMILIN1elastin microfibril interfacer 1 | Sageli (30–79%) | Esineb 1 haiguses |
| EXOC2exocyst complex component 2 | Sageli (30–79%) | Esineb 1 haiguses |
| EXT2exostosin glycosyltransferase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| FAR1fatty acyl-CoA reductase 1 | Sageli (30–79%) | Esineb 2 haiguses |
| FGF3fibroblast growth factor 3 | Sageli (30–79%) | Esineb 1 haiguses |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Sageli (30–79%) | Esineb 1 haiguses |
| FZD2frizzled class receptor 2 | Sageli (30–79%) | Esineb 3 haiguses |
| GON4Lgon-4 like | Sageli (30–79%) | Esineb 1 haiguses |
| GP1BBglycoprotein Ib platelet subunit beta | Sageli (30–79%) | Esineb 1 haiguses |
| HIRAhistone cell cycle regulator | Sageli (30–79%) | Esineb 1 haiguses |
| HMBShydroxymethylbilane synthase | Sageli (30–79%) | Esineb 1 haiguses |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Sageli (30–79%) | Esineb 1 haiguses |
| IFT80intraflagellar transport 80 | Sageli (30–79%) | Esineb 1 haiguses |
| IFT81intraflagellar transport 81 | Sageli (30–79%) | Esineb 1 haiguses |
| INTS1integrator complex subunit 1 | Sageli (30–79%) | Esineb 1 haiguses |
| JMJD1Cjumonji domain containing 1C | Sageli (30–79%) | Esineb 1 haiguses |
| KAT6Blysine acetyltransferase 6B | Sageli (30–79%) | Esineb 1 haiguses |
| KMT2Alysine methyltransferase 2A | Sageli (30–79%) | Esineb 2 haiguses |
| MAFMAF bZIP transcription factor | Sageli (30–79%) | Esineb 2 haiguses |
| MED12mediator complex subunit 12 | Sageli (30–79%) | Esineb 3 haiguses |
| METTL23methyltransferase 23, arginine | Sageli (30–79%) | Esineb 1 haiguses |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Sageli (30–79%) | Esineb 1 haiguses |
| MLXIPLMLX interacting protein like | Sageli (30–79%) | Esineb 1 haiguses |
| MYO18Bmyosin XVIIIB | Sageli (30–79%) | Esineb 1 haiguses |
| MYOD1myogenic differentiation 1 | Sageli (30–79%) | Esineb 1 haiguses |
| NEK9NIMA related kinase 9 | Sageli (30–79%) | Esineb 1 haiguses |
| NOS3nitric oxide synthase 3 | Sageli (30–79%) | Esineb 1 haiguses |
| OBSL1obscurin like cytoskeletal adaptor 1 | Sageli (30–79%) | Esineb 2 haiguses |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| OTUD6BOTU deubiquitinase 6B | Sageli (30–79%) | Esineb 2 haiguses |
| PHIPPHIP subunit of CUL4-Ring ligase complex | Sageli (30–79%) | Esineb 2 haiguses |
| PLAAphospholipase A2 activating protein | Sageli (30–79%) | Esineb 2 haiguses |
| PMM2phosphomannomutase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| POLR3ARNA polymerase III subunit A | Sageli (30–79%) | Esineb 1 haiguses |
| POU4F1POU class 4 homeobox 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Sageli (30–79%) | Esineb 1 haiguses |
| PTCH1patched 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PTH1Rparathyroid hormone 1 receptor | Sageli (30–79%) | Esineb 1 haiguses |
| PYCR1pyrroline-5-carboxylate reductase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| RAP1BRAP1B, member of RAS oncogene family | Sageli (30–79%) | Esineb 1 haiguses |
| RIC1RIC1 partner of RAB6A GEF complex | Sageli (30–79%) | Esineb 1 haiguses |
| ROR2ROR family WNT receptor 2 | Sageli (30–79%) | Esineb 2 haiguses |
| RREB1ras responsive element binding protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SEC24CSEC24 homolog C, COPII component | Sageli (30–79%) | Esineb 1 haiguses |
| SETBP1SET binding protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Sageli (30–79%) | Esineb 1 haiguses |
| TAF1TATA-box binding protein associated factor 1 | Sageli (30–79%) | Esineb 2 haiguses |
| TASP1taspase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TBX1T-box transcription factor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TET3tet methylcytosine dioxygenase 3 | Sageli (30–79%) | Esineb 1 haiguses |
| THSD1thrombospondin type 1 domain containing 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TMEM147transmembrane protein 147 | Sageli (30–79%) | Esineb 1 haiguses |
| TMEM94transmembrane protein 94 | Sageli (30–79%) | Esineb 1 haiguses |
| TRIM8tripartite motif containing 8 | Sageli (30–79%) | Esineb 1 haiguses |
| TUBBtubulin beta class I | Sageli (30–79%) | Esineb 2 haiguses |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Sageli (30–79%) | Esineb 1 haiguses |
| USB1U6 snRNA biogenesis phosphodiesterase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| WDR35WD repeat domain 35 | Sageli (30–79%) | Esineb 1 haiguses |
| WNT5AWnt family member 5A | Sageli (30–79%) | Esineb 2 haiguses |
| XYLT1xylosyltransferase 1 | Sageli (30–79%) | Esineb 2 haiguses |
| ZFXzinc finger protein X-linked | Sageli (30–79%) | Esineb 1 haiguses |
| ABCC8ATP binding cassette subfamily C member 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ACTA1actin alpha 1, skeletal muscle | Mõnikord (5–29%) | Esineb 1 haiguses |
| ALG11ALG11 alpha-1,2-mannosyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| AP1G1adaptor related protein complex 1 subunit gamma 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ARID1AAT-rich interaction domain 1A | Mõnikord (5–29%) | Esineb 1 haiguses |
| ARID1BAT-rich interaction domain 1B | Mõnikord (5–29%) | Esineb 2 haiguses |
| ARL6ARF like GTPase 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATXN7L3ataxin 7 like 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| B4GALT1beta-1,4-galactosyltransferase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BBIP1BBSome interacting protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BBS1Bardet-Biedl syndrome 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BBS10Bardet-Biedl syndrome 10 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BBS12Bardet-Biedl syndrome 12 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BBS2Bardet-Biedl syndrome 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BBS4Bardet-Biedl syndrome 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BBS5Bardet-Biedl syndrome 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BBS7Bardet-Biedl syndrome 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BBS9Bardet-Biedl syndrome 9 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BRF1BRF1 general transcription factor IIIB subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| CDC42cell division cycle 42 | Mõnikord (5–29%) | Esineb 2 haiguses |
| CDH2cadherin 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CEP19centrosomal protein 19 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CEP290centrosomal protein 290 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CFAP418cilia and flagella associated protein 418 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CHRNGcholinergic receptor nicotinic gamma subunit | Mõnikord (5–29%) | Esineb 2 haiguses |
| CLCN3Cl-/H+ antiporter 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| COG3component of oligomeric golgi complex 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| COX7Bcytochrome c oxidase subunit 7B | Mõnikord (5–29%) | Esineb 1 haiguses |
| CTCFCCCTC-binding factor | Mõnikord (5–29%) | Esineb 2 haiguses |
| CTNNB1catenin beta 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| DLK1delta like non-canonical Notch ligand 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DLL3delta like canonical Notch ligand 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ERFETS2 repressor factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| EXOC7exocyst complex component 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| EXTL3exostosin like glycosyltransferase 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FBXL4F-box and leucine rich repeat protein 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FBXO11F-box protein 11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FEM1Bfem-1 homolog B | Mõnikord (5–29%) | Esineb 1 haiguses |
| FILIP1filamin A interacting protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FOXP2forkhead box P2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FRYLFRY like transcription coactivator | Mõnikord (5–29%) | Esineb 1 haiguses |
| GABBR1gamma-aminobutyric acid type B receptor subunit 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GAD1glutamate decarboxylase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GLB1galactosidase beta 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GTF3C3general transcription factor IIIC subunit 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| H3-3BH3.3 histone B | Mõnikord (5–29%) | Esineb 1 haiguses |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HES7hes family bHLH transcription factor 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HPDL4-hydroxyphenylpyruvate dioxygenase like | Mõnikord (5–29%) | Esineb 1 haiguses |
| IDH1isocitrate dehydrogenase (NADP(+)) 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IFT172intraflagellar transport 172 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IFT27intraflagellar transport 27 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IFT74intraflagellar transport 74 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KDM4Blysine demethylase 4B | Mõnikord (5–29%) | Esineb 1 haiguses |
| KIAA0753KIAA0753 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KIF11kinesin family member 11 | Mõnikord (5–29%) | Esineb 2 haiguses |
| KIF26Akinesin family member 26A | Mõnikord (5–29%) | Esineb 1 haiguses |
| KIF7kinesin family member 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KITKIT proto-oncogene, receptor tyrosine kinase | Mõnikord (5–29%) | Esineb 1 haiguses |
| KLHL41kelch like family member 41 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LFNGLFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| LMNB1lamin B1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LZTFL1leucine zipper transcription factor like 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LZTR1leucine zipper like post translational regulator 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MAB21L2mab-21 like 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MADDMAP kinase activating death domain | Mõnikord (5–29%) | Esineb 1 haiguses |
| MAPK1mitogen-activated protein kinase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MAPRE2microtubule associated protein RP/EB family member 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MARK2microtubule affinity regulating kinase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MEG3maternally expressed 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MEGF8multiple EGF like domains 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MEIS2Meis homeobox 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MESP2mesoderm posterior bHLH transcription factor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MKKSMKKS centrosomal shuttling protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| MKS1MKS transition zone complex subunit 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MPC1mitochondrial pyruvate carrier 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MTX2metaxin 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Mõnikord (5–29%) | Esineb 1 haiguses |
| NEBnebulin | Mõnikord (5–29%) | Esineb 2 haiguses |
| NF1neurofibromin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NOTCH3notch receptor 3 | Mõnikord (5–29%) | Esineb 2 haiguses |
| NPHP1nephrocystin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NSRP1nuclear speckle splicing regulatory protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Mõnikord (5–29%) | Esineb 1 haiguses |
| PAHphenylalanine hydroxylase | Mõnikord (5–29%) | Esineb 1 haiguses |
| PCDHGC4protocadherin gamma subfamily C, 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PDE4Dphosphodiesterase 4D | Mõnikord (5–29%) | Esineb 1 haiguses |
| PGM2L1phosphoglucomutase 2 like 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Mõnikord (5–29%) | Esineb 1 haiguses |
| PLPBPpyridoxal phosphate binding protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Mõnikord (5–29%) | Esineb 1 haiguses |
| PPP1R12Aprotein phosphatase 1 regulatory subunit 12A | Mõnikord (5–29%) | Esineb 1 haiguses |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Mõnikord (5–29%) | Esineb 1 haiguses |
| PRKDCprotein kinase, DNA-activated, catalytic subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| PTENphosphatase and tensin homolog | Mõnikord (5–29%) | Esineb 2 haiguses |
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PYCR2pyrroline-5-carboxylate reductase 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| RAI1retinoic acid induced 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RFX7regulatory factor X7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RHOBTB2Rho related BTB domain containing 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RIPPLY2ripply transcriptional repressor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RTL1retrotransposon Gag like 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SCAPERS-phase cyclin A associated protein in the ER | Mõnikord (5–29%) | Esineb 1 haiguses |
| SCLT1sodium channel and clathrin linker 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SHMT2serine hydroxymethyltransferase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC4A10solute carrier family 4 member 10 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC9A7solute carrier family 9 member A7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLF2SMC5/6 complex localization factor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SMG8SMG8 nonsense mediated mRNA decay factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| SMOC1SPARC related modular calcium binding 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SNAI2snail family transcriptional repressor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SOX9SRY-box transcription factor 9 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SPRED2sprouty related EVH1 domain containing 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TAF6TATA-box binding protein associated factor 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TBC1D20TBC1 domain family member 20 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TBC1D32TBC1 domain family member 32 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TBCKTBC1 domain containing kinase | Mõnikord (5–29%) | Esineb 2 haiguses |
| TBX6T-box transcription factor 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TMEM53transmembrane protein 53 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TPM3tropomyosin 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRIM32tripartite motif containing 32 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRIOtrio Rho guanine nucleotide exchange factor | Mõnikord (5–29%) | Esineb 3 haiguses |
| TRIP12thyroid hormone receptor interactor 12 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRMT10AtRNA methyltransferase 10A | Mõnikord (5–29%) | Esineb 1 haiguses |
| TTC5tetratricopeptide repeat domain 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TTC8tetratricopeptide repeat domain 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| UBR7ubiquitin protein ligase E3 component n-recognin 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| UGP2UDP-glucose pyrophosphorylase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| USP9Xubiquitin specific peptidase 9 X-linked | Mõnikord (5–29%) | Esineb 2 haiguses |
| WDPCPWD repeat containing planar cell polarity effector | Mõnikord (5–29%) | Esineb 1 haiguses |
| XYLT2xylosyltransferase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZNF699zinc finger protein 699 | Mõnikord (5–29%) | Esineb 1 haiguses |
| AP2M1adaptor related protein complex 2 subunit mu 1 | Harva (1–4%) | Esineb 1 haiguses |
| CHD2chromodomain helicase DNA binding protein 2 | Harva (1–4%) | Esineb 1 haiguses |
| EPG5ectopic P-granules 5 autophagy tethering factor | Harva (1–4%) | Esineb 1 haiguses |
| FLNAfilamin A | Harva (1–4%) | Esineb 1 haiguses |
| GJA5gap junction protein alpha 5 | Harva (1–4%) | Esineb 1 haiguses |
| GJA8gap junction protein alpha 8 | Harva (1–4%) | Esineb 1 haiguses |
| H3-3AH3.3 histone A | Harva (1–4%) | Esineb 1 haiguses |
| NEXMIFneurite extension and migration factor | Harva (1–4%) | Esineb 1 haiguses |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Harva (1–4%) | Esineb 1 haiguses |
| PTBP1polypyrimidine tract binding protein 1 | Harva (1–4%) | Esineb 1 haiguses |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Harva (1–4%) | Esineb 1 haiguses |
| SLC2A1solute carrier family 2 member 1 | Harva (1–4%) | Esineb 1 haiguses |
| SLC6A1solute carrier family 6 member 1 | Harva (1–4%) | Esineb 1 haiguses |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Harva (1–4%) | Esineb 1 haiguses |
| ALDH6A1aldehyde dehydrogenase 6 family member A1 | Pole registreeritud | Esineb 1 haiguses |
| ARHGEF2Rho/Rac guanine nucleotide exchange factor 2 | Pole registreeritud | Esineb 1 haiguses |
| ARXaristaless related homeobox | Pole registreeritud | Esineb 1 haiguses |
| ATN1atrophin 1 | Pole registreeritud | Esineb 1 haiguses |
| AVParginine vasopressin | Pole registreeritud | Esineb 1 haiguses |
| BRAT1BRCA1 associated ATM activator 1 | Pole registreeritud | Esineb 1 haiguses |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Pole registreeritud | Esineb 1 haiguses |
| C12orf57chromosome 12 open reading frame 57 | Pole registreeritud | Esineb 1 haiguses |
| CAMK2Gcalcium/calmodulin dependent protein kinase II gamma | Pole registreeritud | Esineb 1 haiguses |
| CBLCbl proto-oncogene | Pole registreeritud | Esineb 1 haiguses |
| CDH11cadherin 11 | Pole registreeritud | Esineb 1 haiguses |
| CLTCclathrin heavy chain | Pole registreeritud | Esineb 1 haiguses |
| CRTAPcartilage associated protein | Pole registreeritud | Esineb 1 haiguses |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Pole registreeritud | Esineb 1 haiguses |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Pole registreeritud | Esineb 1 haiguses |
| FGFR2fibroblast growth factor receptor 2 | Pole registreeritud | Esineb 1 haiguses |
| GJA1gap junction protein alpha 1 | Pole registreeritud | Esineb 1 haiguses |
| GLIS3GLIS family zinc finger 3 | Pole registreeritud | Esineb 1 haiguses |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Pole registreeritud | Esineb 1 haiguses |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Pole registreeritud | Esineb 1 haiguses |
| HRASHRas proto-oncogene, GTPase | Pole registreeritud | Esineb 1 haiguses |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Pole registreeritud | Esineb 1 haiguses |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Pole registreeritud | Esineb 1 haiguses |
| IGF1Rinsulin like growth factor 1 receptor | Pole registreeritud | Esineb 1 haiguses |
| INPPL1inositol polyphosphate phosphatase like 1 | Pole registreeritud | Esineb 1 haiguses |
| MOCS1molybdenum cofactor synthesis 1 | Pole registreeritud | Esineb 1 haiguses |
| MOCS2molybdenum cofactor synthesis 2 | Pole registreeritud | Esineb 1 haiguses |
| MUSKmuscle associated receptor tyrosine kinase | Pole registreeritud | Esineb 1 haiguses |
| NFIBnuclear factor I B | Pole registreeritud | Esineb 1 haiguses |
| NRASNRAS proto-oncogene, GTPase | Pole registreeritud | Esineb 1 haiguses |
| OCLNoccludin | Pole registreeritud | Esineb 1 haiguses |
| PCLOpiccolo presynaptic cytomatrix protein | Pole registreeritud | Esineb 1 haiguses |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Pole registreeritud | Esineb 1 haiguses |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Pole registreeritud | Esineb 1 haiguses |
| PORcytochrome p450 oxidoreductase | Pole registreeritud | Esineb 1 haiguses |
| SKIC3SKI3 subunit of superkiller complex | Pole registreeritud | Esineb 1 haiguses |
| SLC25A24solute carrier family 25 member 24 | Pole registreeritud | Esineb 1 haiguses |
| SLC2A10solute carrier family 2 member 10 | Pole registreeritud | Esineb 1 haiguses |
| SNRPBsmall nuclear ribonucleoprotein polypeptides B and B1 | Pole registreeritud | Esineb 1 haiguses |
| SRCAPSnf2 related CREBBP activator protein | Pole registreeritud | Esineb 1 haiguses |
| STAG2STAG2 cohesin complex component | Pole registreeritud | Esineb 1 haiguses |
| TENM3teneurin transmembrane protein 3 | Pole registreeritud | Esineb 1 haiguses |
| TMEM70transmembrane protein 70 | Pole registreeritud | Esineb 1 haiguses |
| TNNI2troponin I2, fast skeletal type | Pole registreeritud | Esineb 1 haiguses |
| TNPO2transportin 2 | Pole registreeritud | Esineb 1 haiguses |
| TRAPPC4trafficking protein particle complex subunit 4 | Pole registreeritud | Esineb 1 haiguses |
| ZC4H2zinc finger C4H2-type containing | Pole registreeritud | Esineb 2 haiguses |
| ZMIZ1zinc finger MIZ-type containing 1 | 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.
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 2026.10.19-9814e911.
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