AtlasKeitä autammeTieteemmeTuotteetTulokset
Kirjaudu sisäänKysySekvensoi genomisi↗
Piirre
Receding chin
Kliininen nimi: Retrognathia
An abnormality in which the mandible is mislocalised posteriorly.
Yhteenveto
- Tunnetaan myös nimellä
- Receding lower jaw, Weak chin, Weak jaw, Lower jaw retrognathia, Lower jaw retrusion, Mandibular retrognathia, Mandibular retrusion, Receding mandible, Retrognathia of lower jaw, Retrusion of lower jaw
- Elimistön järjestelmä
- Abnormality of head or neckAbnormality of the musculoskeletal system
AtlasKeitä autammeTieteemmeTuotteetTulokset
Kirjaudu sisäänKysySekvensoi genomisi↗
Tämä sivu datana
Lisää sivun osoitteen perään .json tai pyydä application/json-muotoa, niin saat sivun JSON-muodossa.
library(jsonlite)
url <- "https://dantelabs.com/traits/retrognathia.json"
page <- fromJSON(url)
page$trait$nameReceding chinHP:0000278
AtlasKeitä autammeTieteemmeTuotteetTulokset
Kirjaudu sisäänKysySekvensoi genomisi↗
Lue Receding chin-nimiseen tai sen kanssa liittyvät geenit ja muu genomisi yhdellä testillä.
Alkaen 449 $Ilmainen toimitus · Tulokset 6–8 viikossa
Tilaa Genome Test150 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 →
- Aortic AneurysmReads 12 of these genesFBN1TGFB2TGFBR1TGFBR2ACTA2FOXE3About this report →
- Marfan Like SyndromesReads 8 of these genesFBN1TGFB3SKITGFB2TGFBR1TGFBR2About this report →
- Loeys-Dietz SyndromeReads 6 of these genesTGFB3TGFB2TGFBR1TGFBR2SMAD2SMAD3About this report →
Show 146 more reports
- Intellectual DisabilityReads 37 of these genesDHX9HNRNPH1PUF60RSRC1TAF4POLA1About this report →
- Treacher Collins SyndromeReads 4 of these genesPOLR1BPOLR1CPOLR1DTCOF1About this report →
- Branchio-Oto-Renal Spectrum DisorderReads 3 of these genesEYA1SIX1SIX5About this report →
- Congenital MyopathiesReads 7 of these genesBIN1RYR1SPEGTTNMTM1ACTA1About this report →
- Congenital Anomalies of the Kidney and Urinary TractReads 5 of these genesDSTYKEYA1SIX1SIX5ITGA8About this report →
- Overgrowth Syndromes (Sotos, Weaver, Tatton-Brown-Rahman, Malan)Reads 3 of these genesEZH2NFIXNSD1About this report →
- Kabuki SyndromeReads 2 of these genesKDM6AKMT2DAbout this report →
- TRIP11-Related Skeletal DysplasiaReads 2 of these genesMIA3TRIP11About this report →
- Imprinting Disorders: Prader-Willi, Silver-Russell and Beckwith-WiedemannReads 4 of these genesNSD1IGF2SNRPNMAGEL2About this report →
- Cutis LaxaReads 5 of these genesEFEMP2LTBP4ELNEMILIN1ATP6V1AAbout this report →
- Cornelia de Lange SyndromeReads 3 of these genesSMC1ASMC3HDAC8About this report →
- Hereditary Visceral Myopathy, CIPO & MMIHSReads 3 of these genesFLNAMYH11MYLKAbout this report →
- Microphthalmia, Anophthalmia & ColobomaReads 6 of these genesERCC2COX7BHCCSNDUFB11BMP4RARBAbout this report →
- Congenital Disorders of GlycosylationReads 11 of these genesALG9COG7MOGSEDEM3FUT8PMM2About this report →
- 22q11.2 Deletion SyndromeReads 1 of these genesTBX1About this report →
- ACCES Syndrome (UBA2)Reads 1 of these genesUBA2About this report →
- Alveolar Capillary Dysplasia with Misalignment of Pulmonary VeinsReads 1 of these genesFOXF1About this report →
- Au-Kline SyndromeReads 1 of these genesHNRNPKAbout this report →
- Basilicata-Akhtar SyndromeReads 1 of these genesMSL3About this report →
- Beaulieu-Boycott-Innes Syndrome (THOC6)Reads 1 of these genesTHOC6About this report →
- Bloom SyndromeReads 1 of these genesBLMAbout this report →
- BMP4-Related Microphthalmia and AnophthalmiaReads 1 of these genesBMP4About this report →
- Caffey DiseaseReads 1 of these genesCOL1A1About this report →
- CEP290-Related CiliopathyReads 1 of these genesCEP290About this report →
- CTNNB1 SyndromeReads 1 of these genesCTNNB1About this report →
- DesmosterolosisReads 1 of these genesDHCR24About this report →
- Dias-Logan SyndromeReads 1 of these genesBCL11AAbout this report →
- FAT4-Related Neurodevelopmental DisorderReads 1 of these genesFAT4About this report →
- Feingold Syndrome Type 1Reads 1 of these genesMYCNAbout this report →
- Ferguson-Smith Disease (Multiple Self-Healing Squamous Epithelioma)Reads 1 of these genesTGFBR1About this report →
- Floating-Harbor SyndromeReads 1 of these genesSRCAPAbout this report →
- Gaucher DiseaseReads 1 of these genesGBA1About this report →
- H SyndromeReads 1 of these genesSLC29A3About this report →
- Hereditary HypospadiasReads 1 of these genesMAMLD1About this report →
- INTU-Related Skeletal CiliopathyReads 1 of these genesINTUAbout this report →
- JARID2-Related Neurodevelopmental DisorderReads 1 of these genesJARID2About this report →
- KAT6B-Related DisordersReads 1 of these genesKAT6BAbout this report →
- Kaufman Oculocerebrofacial SyndromeReads 1 of these genesUBE3BAbout this report →
- Lethal Congenital Contracture Syndrome 11 (GLDN)Reads 1 of these genesGLDNAbout this report →
- Marshall-Smith SyndromeReads 1 of these genesNFIXAbout this report →
- Meier-Gorlin Syndrome 3 (ORC6)Reads 1 of these genesORC6About this report →
- Meier-Gorlin Syndrome 4Reads 1 of these genesCDT1About this report →
- Meier-Gorlin Syndrome 7 (CDC45)Reads 1 of these genesCDC45About this report →
- Microcephalic Osteodysplastic Primordial Dwarfism Type IIReads 1 of these genesPCNTAbout this report →
- Perlman SyndromeReads 1 of these genesDIS3L2About this report →
- POLR1C-Related DisorderReads 1 of these genesPOLR1CAbout this report →
- POLR3A-Related DisorderReads 1 of these genesPOLR3AAbout this report →
- Primary Failure of Tooth EruptionReads 1 of these genesPTH1RAbout this report →
- Radio-Tartaglia SyndromeReads 1 of these genesSPENAbout this report →
- Raine SyndromeReads 1 of these genesFAM20CAbout this report →
- Restrictive Dermopathy (ZMPSTE24)Reads 1 of these genesZMPSTE24About this report →
- RNU4ATAC Spectrum DisorderReads 1 of these genesRNU4ATACAbout this report →
- RTTN-Related Microcephalic Primordial DwarfismReads 1 of these genesRTTNAbout this report →
- Sandestig-Stefanova SyndromeReads 1 of these genesNUP188About this report →
- SCN4A-Related Congenital MyopathyReads 1 of these genesSCN4AAbout this report →
- SF3B4-Related Acrofacial Dysostosis (Nager Syndrome)Reads 1 of these genesSF3B4About this report →
- Short-Rib Thoracic Dysplasia 7 (WDR35)Reads 1 of these genesWDR35About this report →
- Stankiewicz-Isidor SyndromeReads 1 of these genesPSMD12About this report →
- Joubert Syndrome And Related DisordersReads 6 of these genesTMEM107KIF7TCTN3CEP290MKS1NPHP1About this report →
- Meckel SyndromeReads 3 of these genesTMEM107TXNDC15MKS1About this report →
- Hereditary Methaemoglobinaemia and Unstable HaemoglobinsReads 2 of these genesHBA1HBA2About this report →
- ThalassaemiaReads 2 of these genesHBA1HBA2About this report →
- Ehlers-Danlos SyndromeReads 4 of these genesCOL1A1COL1A2ADAMTS2COL3A1About this report →
- Syndromic CraniosynostosisReads 4 of these genesERFSKIMEGF8WDR35About this report →
- DNA Repair DiseaseReads 5 of these genesERCC2NBNERCC3FANCBGTF2H5About this report →
- Monogenic Obesity (Leptin-Melanocortin Pathway)Reads 2 of these genesCEP19SIM1About this report →
- Primary Lymphoedema & Lymphatic MalformationsReads 3 of these genesADAMTS3CCBE1FAT4About this report →
- Autosomal Recessive Primary MicrocephalyReads 3 of these genesCPAPCEP135CEP152About this report →
- PolycythemiaReads 2 of these genesHBA1HBA2About this report →
- Carey-Fineman-Ziter SyndromeReads 1 of these genesMYMKAbout this report →
- CystinuriaReads 1 of these genesSLC3A1About this report →
- Fontaine Progeroid SyndromeReads 1 of these genesSLC25A24About this report →
- Hereditary FibromatosesReads 1 of these genesPDGFRBAbout this report →
- Juvenile Polyposis SyndromeReads 1 of these genesSMAD4About this report →
- Malignant Hyperthermia SusceptibilityReads 1 of these genesRYR1About this report →
- PRR12-Related Neuroocular SyndromeReads 1 of these genesPRR12About this report →
- Osteogenesis ImperfectaReads 4 of these genesPOLR3ACOL1A1COL1A2MESDAbout this report →
- Complex Neurodevelopmental Disorder With Motor FeaturesReads 2 of these genesEMC1KMT2BAbout this report →
- Epilepsy (Full Panel)Reads 9 of these genesFLNAPPP3CASMC1AAARS1ABATOTUD6BAbout this report →
- Syndromic Complex Neurodevelopmental DisorderReads 3 of these genesAFG2ARNU4-2ZFXAbout this report →
- Congenital Myasthenic SyndromeReads 3 of these genesCOL13A1PREPLSCN4AAbout this report →
- Coffin-Siris SyndromeReads 2 of these genesARID2ARID1BAbout this report →
- LipodystrophyReads 2 of these genesLMNAZMPSTE24About this report →
- Familial Periodic ParalysisReads 1 of these genesSCN4AAbout this report →
- Immuno-Osseous DysplasiasReads 1 of these genesRNU4ATACAbout this report →
- Monogenic Precocious PubertyReads 1 of these genesDLK1About this report →
- Inherited Neurodegenerative DisordersReads 11 of these genesPOLR1CPOLR3AAARS1DSTYKATG7CEP290About this report →
- Retinitis PigmentosaReads 5 of these genesARL6BBS2CFAP418IFT172TTC8About this report →
- Inherited Congenital Heart DefectsReads 2 of these genesFLNAELNAbout this report →
- Myofibrillar MyopathiesReads 2 of these genesRYR1TTNAbout this report →
- Diamond-Blackfan AnemiaReads 2 of these genesRPL5RPS19About this report →
- OsteopetrosisReads 2 of these genesAMER1CA2About this report →
- Limb-Girdle Muscular DystrophyReads 3 of these genesLMNATTNTRIM32About this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 3 of these genesACTBKMT2BSCN4AAbout this report →
- Achondrogenesis panelReads 1 of these genesTRIP11About this report →
- Hereditary Hemorrhagic TelangiectasiaReads 1 of these genesSMAD4About this report →
- Moyamoya DiseaseReads 1 of these genesACTA2About this report →
- Rare Hereditary Peripheral NeuropathiesReads 7 of these genesDHX9AARS1LMNAEMILIN1FARS2HPDLAbout this report →
- Charcot-Marie-Tooth DiseaseReads 4 of these genesDHX9AARS1LMNAEMILIN1About this report →
- Nephronophthisis and Senior-Løken SyndromeReads 2 of these genesNPHP1SDCCAG8About this report →
- Autosomal Dominant Tubulointerstitial Kidney DiseaseReads 1 of these genesSEC61A1About this report →
- Periventricular Nodular HeterotopiaReads 1 of these genesFLNAAbout this report →
- Noonan SyndromeReads 2 of these genesERFCBLAbout this report →
- Dilated CardiomyopathyReads 3 of these genesFHL1LMNATTNAbout this report →
- Hypogonadotropic HypogonadismReads 3 of these genesSNRPNWDR11MAGEL2About this report →
- Lissencephaly Spectrum DisordersReads 2 of these genesACTBACTG1About this report →
- Growth Hormone Insensitivity & IGF-1 Axis DisordersReads 1 of these genesIGF1RAbout this report →
- Hereditary Orofacial CleftingReads 1 of these genesBMP4About this report →
- Peroxisomal Enzyme Disorders & Refsum DiseaseReads 1 of these genesHSD17B4About this report →
- Pelizaeus-Merzbacher Disease & Hypomyelinating LeukodystrophiesReads 2 of these genesPOLR1CPOLR3AAbout this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 3 of these genesATG7CEP290MKS1About this report →
- Hypertrophic CardiomyopathyReads 3 of these genesERFNSD1IGF2About this report →
- Basal Ganglia CalcificationReads 1 of these genesPDGFRBAbout this report →
- Ellis-van Creveld Syndrome and Cranioectodermal DysplasiaReads 1 of these genesWDR35About this report →
- Hereditary Spastic ParaplegiaReads 3 of these genesDSTYKFARS2HPDLAbout this report →
- Disorders of Glycine & Serine MetabolismReads 1 of these genesSLC6A9About this report →
- Progressive Cardiac Conduction Disease & Sick Sinus SyndromeReads 1 of these genesLMNAAbout this report →
- Purine & Pyrimidine Metabolism DisordersReads 1 of these genesDPYDAbout this report →
- Inherited ThrombocytopeniasReads 2 of these genesACTBRAP1BAbout this report →
- Primary Mitochondrial DiseaseReads 4 of these genesNDUFB11TMEM70FARS2MRPS22About this report →
- Other Inherited LeukodystrophiesReads 3 of these genesPOLR1CPOLR3AAARS1About this report →
- Anterior Segment Dysgenesis, Axenfeld-Rieger Syndrome & AniridiaReads 1 of these genesFOXE3About this report →
- Autism Spectrum DisorderReads 1 of these genesCHD8About this report →
- Common Variable Immunodeficiency (Monogenic CVID)Reads 1 of these genesSEC61A1About this report →
- Hermansky-Pudlak SyndromeReads 1 of these genesAP3D1About this report →
- HyperinsulinismReads 1 of these genesPMM2About this report →
- Polycystic Kidney DiseaseReads 1 of these genesALG9About this report →
- Type I InterferonopathiesReads 1 of these genesPOLA1About this report →
- Female InfertilityReads 2 of these genesHSD17B4MRPS22About this report →
- Complex Cortical Dysplasia and Frontoparietal PolymicrogyriaReads 1 of these genesKIF26AAbout this report →
- Parkinson DiseaseReads 1 of these genesGBA1About this report →
- Leigh SyndromeReads 2 of these genesFARS2HPDLAbout this report →
- Fanconi AnemiaReads 1 of these genesFANCBAbout this report →
- Distal MyopathiesReads 1 of these genesTTNAbout this report →
- Congenital HypothyroidismReads 1 of these genesFOXE1About this report →
- Hereditary Sensory and Autonomic Neuropathies (incl. Familial Dysautonomia)Reads 1 of these genesCRLF1About this report →
- Leber Congenital Amaurosis & RPE65-Related RetinopathyReads 1 of these genesCEP290About this report →
- Dyskeratosis CongenitaReads 1 of these genesZBTB24About this report →
- Other Inborn Errors of ImmunityReads 3 of these genesRELSEC61A1TBX1About this report →
- Inherited IchthyosesReads 1 of these genesNSDHLAbout this report →
- Hearing Loss and DeafnessReads 2 of these genesACTG1SIX1About this report →
- VitreoretinopathyReads 1 of these genesCTNNB1About this report →
- Spinal Muscular AtrophyReads 1 of these genesEMILIN1About this report →
- Congenital Muscular DystrophiesReads 1 of these genesCRPPAAbout this report →
- Rare Monogenic Autoinflammatory DiseasesReads 1 of these genesPOLA1About this report →
- Lysosomal Storage DiseaseReads 1 of these genesGBA1About this report →
Lue Receding chin-nimiseen tai sen kanssa liittyvät geenit ja muu genomisi yhdellä testillä.
Alkaen 449 $Ilmainen toimitus · Tulokset 6–8 viikossa
Tilaa Genome Test345 geeniä, jotka liittyvät piirteeseen Receding chin
Näiden geenien muutokset aiheuttavat harvinaisia sairauksia, joissa Receding chin esiintyy. Useimmilla, joilla on tämä piirre, ei ole mitään näistä sairauksista, eikä tämän listan geeni kerro mitään kenenkään omasta genomista.
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| ALG9ALG9 alpha-1,2-mannosyltransferase | Aina | 1 sairaudessa |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Aina | 1 sairaudessa |
| ARID2AT-rich interaction domain 2 | Aina | 1 sairaudessa |
| ARNT2aryl hydrocarbon receptor nuclear translocator 2 | Aina | 1 sairaudessa |
| ASPHaspartate beta-hydroxylase | Aina | 1 sairaudessa |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Aina | 1 sairaudessa |
| C1GALT1C1C1GALT1 specific chaperone 1 | Aina | 1 sairaudessa |
| CCDC88Acoiled-coil and HOOK domain protein 88A | Aina | 1 sairaudessa |
| CIROZciliated left-right organizer protein containing ZP-N domains | Aina | 1 sairaudessa |
| COG7component of oligomeric golgi complex 7 | Aina | 2 sairaudessa |
| CPAPcentrosome assembly and centriole elongation protein | Aina | 1 sairaudessa |
| DHX9DExH-box helicase 9 | Aina | 1 sairaudessa |
| EEDembryonic ectoderm development | Aina | 1 sairaudessa |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Aina | 1 sairaudessa |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Aina | 2 sairaudessa |
| ERFETS2 repressor factor | Aina | 1 sairaudessa |
| EXOSC1exosome component 1 | Aina | 1 sairaudessa |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Aina | 2 sairaudessa |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Aina | 1 sairaudessa |
| FBN1fibrillin 1 | Aina | 4 sairaudessa |
| FLNAfilamin A | Aina | 1 sairaudessa |
| FTOFTO alpha-ketoglutarate dependent dioxygenase | Aina | 1 sairaudessa |
| HNRNPH1heterogeneous nuclear ribonucleoprotein H1 | Aina | 1 sairaudessa |
| IGBP1immunoglobulin binding protein 1 | Aina | 2 sairaudessa |
| INTS11integrator complex subunit 11 | Aina | 1 sairaudessa |
| INTUinturned planar cell polarity protein | Aina | 1 sairaudessa |
| JKAMPJNK1/MAPK8 associated membrane protein | Aina | 1 sairaudessa |
| KDM6Alysine demethylase 6A | Aina | 1 sairaudessa |
| KIF15kinesin family member 15 | Aina | 1 sairaudessa |
| KLHL20kelch like family member 20 | Aina | 1 sairaudessa |
| KMT2Dlysine methyltransferase 2D | Aina | 1 sairaudessa |
| KPTNkaptin, actin binding protein | Aina | 1 sairaudessa |
| LBRlamin B receptor | Aina | 1 sairaudessa |
| LGI4leucine rich repeat LGI family member 4 | Aina | 1 sairaudessa |
| MAPKAPK5MAPK activated protein kinase 5 | Aina | 1 sairaudessa |
| MED16mediator complex subunit 16 | Aina | 1 sairaudessa |
| MOGSmannosyl-oligosaccharide glucosidase | Aina | 2 sairaudessa |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Aina | 1 sairaudessa |
| MYMKmyomaker, myoblast fusion factor | Aina | 1 sairaudessa |
| NAV3neuron navigator 3 | Aina | 1 sairaudessa |
Näytä 305 geeniä lisää
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| NBNnibrin | Aina | 2 sairaudessa |
| NUDT2nudix hydrolase 2 | Aina | 1 sairaudessa |
| NUP188nucleoporin 188 | Aina | 1 sairaudessa |
| NUP88nucleoporin 88 | Aina | 1 sairaudessa |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Aina | 1 sairaudessa |
| PUF60poly(U) binding splicing factor 60 | Aina | 1 sairaudessa |
| RAP1GDS1Rap1 GTPase-GDP dissociation stimulator 1 | Aina | 1 sairaudessa |
| RMP64ribonuclease MRP subunit p64 | Aina | 1 sairaudessa |
| RPL17ribosomal protein L17 | Aina | 1 sairaudessa |
| RSRC1arginine and serine rich coiled-coil 1 | Aina | 1 sairaudessa |
| SCNM1sodium channel modifier 1 | Aina | 1 sairaudessa |
| SMC1Astructural maintenance of chromosomes 1A | Aina | 1 sairaudessa |
| TAF4TATA-box binding protein associated factor 4 | Aina | 1 sairaudessa |
| TGFB3transforming growth factor beta 3 | Aina | 2 sairaudessa |
| TMEM107transmembrane protein 107 | Aina | 1 sairaudessa |
| TXNDC15thioredoxin domain containing 15 | Aina | 1 sairaudessa |
| UBA2ubiquitin like modifier activating enzyme 2 | Aina | 1 sairaudessa |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Aina | 1 sairaudessa |
| ACTBactin beta | Hyvin usein (80–99%) | 2 sairaudessa |
| ACTG1actin gamma 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| CDC45cell division cycle 45 | Hyvin usein (80–99%) | 1 sairaudessa |
| CDC6cell division cycle 6 | Hyvin usein (80–99%) | 1 sairaudessa |
| CDT1chromatin licensing and DNA replication factor 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| DHCR2424-dehydrocholesterol reductase | Hyvin usein (80–99%) | 1 sairaudessa |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| EMC1ER membrane protein complex subunit 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| FAM20CFAM20C golgi associated secretory pathway kinase | Hyvin usein (80–99%) | 1 sairaudessa |
| FOXE1forkhead box E1 | Hyvin usein (80–99%) | 1 sairaudessa |
| GMNNgeminin DNA replication inhibitor | Hyvin usein (80–99%) | 1 sairaudessa |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Hyvin usein (80–99%) | 1 sairaudessa |
| HYMAIhydatidiform mole associated and imprinted | Hyvin usein (80–99%) | 1 sairaudessa |
| IPO8importin 8 | Hyvin usein (80–99%) | 1 sairaudessa |
| KAT6Blysine acetyltransferase 6B | Hyvin usein (80–99%) | 1 sairaudessa |
| KIF7kinesin family member 7 | Hyvin usein (80–99%) | 1 sairaudessa |
| NFIXnuclear factor I X | Hyvin usein (80–99%) | 2 sairaudessa |
| NSD1nuclear receptor binding SET domain protein 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| ORC1origin recognition complex subunit 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| ORC4origin recognition complex subunit 4 | Hyvin usein (80–99%) | 1 sairaudessa |
| ORC6origin recognition complex subunit 6 | Hyvin usein (80–99%) | 1 sairaudessa |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| PLAGL1PLAG1 like zinc finger 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| POLA1DNA polymerase alpha 1, catalytic subunit | Hyvin usein (80–99%) | 2 sairaudessa |
| POLR1BRNA polymerase I subunit B | Hyvin usein (80–99%) | 1 sairaudessa |
| POLR1CRNA polymerase I and III subunit C | Hyvin usein (80–99%) | 1 sairaudessa |
| POLR1DRNA polymerase I and III subunit D | Hyvin usein (80–99%) | 2 sairaudessa |
| POLR3ARNA polymerase III subunit A | Hyvin usein (80–99%) | 1 sairaudessa |
| RNU4ATACRNA, U4atac small nuclear | Hyvin usein (80–99%) | 1 sairaudessa |
| SKISKI proto-oncogene | Hyvin usein (80–99%) | 1 sairaudessa |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Hyvin usein (80–99%) | 1 sairaudessa |
| TCOF1treacle ribosome biogenesis factor 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| TCTN3tectonic family member 3 | Hyvin usein (80–99%) | 2 sairaudessa |
| UBE3Bubiquitin protein ligase E3B | Hyvin usein (80–99%) | 1 sairaudessa |
| AARS1alanyl-tRNA synthetase 1 | Usein (30–79%) | 2 sairaudessa |
| ABAT4-aminobutyrate aminotransferase | Usein (30–79%) | 1 sairaudessa |
| ARID1BAT-rich interaction domain 1B | Usein (30–79%) | 1 sairaudessa |
| BCL11ABCL11 transcription factor A | Usein (30–79%) | 2 sairaudessa |
| BIN1bridging integrator 1 | Usein (30–79%) | 1 sairaudessa |
| BLMBLM RecQ like helicase | Usein (30–79%) | 1 sairaudessa |
| BRCC3BRCA1/BRCA2-containing complex subunit 3 | Usein (30–79%) | 1 sairaudessa |
| CASKcalcium/calmodulin dependent serine protein kinase | Usein (30–79%) | 1 sairaudessa |
| CBLCbl proto-oncogene | Usein (30–79%) | 1 sairaudessa |
| CEP295centrosomal protein 295 | Usein (30–79%) | 1 sairaudessa |
| CNTNAP1contactin associated protein 1 | Usein (30–79%) | 1 sairaudessa |
| COL13A1collagen type XIII alpha 1 chain | Usein (30–79%) | 1 sairaudessa |
| COL1A1collagen type I alpha 1 chain | Usein (30–79%) | 1 sairaudessa |
| COL1A2collagen type I alpha 2 chain | Usein (30–79%) | 1 sairaudessa |
| COX7Bcytochrome c oxidase subunit 7B | Usein (30–79%) | 1 sairaudessa |
| CTU2cytosolic thiouridylase subunit 2 | Usein (30–79%) | 1 sairaudessa |
| DLK1delta like non-canonical Notch ligand 1 | Usein (30–79%) | 2 sairaudessa |
| DSTYKdual serine/threonine and tyrosine protein kinase | Usein (30–79%) | 1 sairaudessa |
| DVL1dishevelled segment polarity protein 1 | Usein (30–79%) | 2 sairaudessa |
| DVL3dishevelled segment polarity protein 3 | Usein (30–79%) | 1 sairaudessa |
| EDEM3ER degradation enhancing alpha-mannosidase like protein 3 | Usein (30–79%) | 1 sairaudessa |
| EDN1endothelin 1 | Usein (30–79%) | 1 sairaudessa |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Usein (30–79%) | 2 sairaudessa |
| EP300EP300 lysine acetyltransferase | Usein (30–79%) | 2 sairaudessa |
| EXOSC5exosome component 5 | Usein (30–79%) | 1 sairaudessa |
| FBXO31F-box protein 31 | Usein (30–79%) | 1 sairaudessa |
| FBXW11F-box and WD repeat domain containing 11 | Usein (30–79%) | 1 sairaudessa |
| FDFT1farnesyl-diphosphate farnesyltransferase 1 | Usein (30–79%) | 1 sairaudessa |
| FHL1four and a half LIM domains 1 | Usein (30–79%) | 1 sairaudessa |
| FOXP1forkhead box P1 | Usein (30–79%) | 2 sairaudessa |
| FUT8fucosyltransferase 8 | Usein (30–79%) | 1 sairaudessa |
| FZD2frizzled class receptor 2 | Usein (30–79%) | 1 sairaudessa |
| H4C3H4 clustered histone 3 | Usein (30–79%) | 1 sairaudessa |
| HBA1hemoglobin subunit alpha 1 | Usein (30–79%) | 1 sairaudessa |
| HBA2hemoglobin subunit alpha 2 | Usein (30–79%) | 1 sairaudessa |
| HCCSholocytochrome c synthase | Usein (30–79%) | 1 sairaudessa |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Usein (30–79%) | 1 sairaudessa |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Usein (30–79%) | 1 sairaudessa |
| IBA57iron-sulfur cluster assembly factor IBA57 | Usein (30–79%) | 1 sairaudessa |
| IGF2insulin like growth factor 2 | Usein (30–79%) | 1 sairaudessa |
| KDM2Blysine demethylase 2B | Usein (30–79%) | 1 sairaudessa |
| LMNAlamin A/C | Usein (30–79%) | 2 sairaudessa |
| LTBP4latent transforming growth factor beta binding protein 4 | Usein (30–79%) | 1 sairaudessa |
| MEG3maternally expressed 3 | Usein (30–79%) | 2 sairaudessa |
| MESDmesoderm development LRP chaperone | Usein (30–79%) | 1 sairaudessa |
| NAA80N-alpha-acetyltransferase 80, NatH catalytic subunit | Usein (30–79%) | 1 sairaudessa |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Usein (30–79%) | 1 sairaudessa |
| OTUD5OTU deubiquitinase 5 | Usein (30–79%) | 1 sairaudessa |
| OTUD6BOTU deubiquitinase 6B | Usein (30–79%) | 2 sairaudessa |
| PCNTpericentrin | Usein (30–79%) | 2 sairaudessa |
| PMM2phosphomannomutase 2 | Usein (30–79%) | 1 sairaudessa |
| POGZpogo transposable element derived with ZNF domain | Usein (30–79%) | 1 sairaudessa |
| POLR1ARNA polymerase I subunit A | Usein (30–79%) | 1 sairaudessa |
| PREPLprolyl endopeptidase like | Usein (30–79%) | 1 sairaudessa |
| PRR12proline rich 12 | Usein (30–79%) | 1 sairaudessa |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Usein (30–79%) | 1 sairaudessa |
| PTH1Rparathyroid hormone 1 receptor | Usein (30–79%) | 1 sairaudessa |
| RELREL proto-oncogene, NF-kB subunit | Usein (30–79%) | 1 sairaudessa |
| ROR2ROR family WNT receptor 2 | Usein (30–79%) | 1 sairaudessa |
| RTL1retrotransposon Gag like 1 | Usein (30–79%) | 2 sairaudessa |
| RYR1ryanodine receptor 1 | Usein (30–79%) | 1 sairaudessa |
| SETD2SET domain containing 2, histone lysine methyltransferase | Usein (30–79%) | 1 sairaudessa |
| SLC29A3solute carrier family 29 member 3 | Usein (30–79%) | 1 sairaudessa |
| SLC35B2solute carrier family 35 member B2 | Usein (30–79%) | 1 sairaudessa |
| SLC3A1solute carrier family 3 member 1 | Usein (30–79%) | 1 sairaudessa |
| SMC3structural maintenance of chromosomes 3 | Usein (30–79%) | 1 sairaudessa |
| SPEGstriated muscle enriched protein kinase | Usein (30–79%) | 2 sairaudessa |
| TGFB2transforming growth factor beta 2 | Usein (30–79%) | 2 sairaudessa |
| TGFBR1transforming growth factor beta receptor 1 | Usein (30–79%) | 2 sairaudessa |
| TGFBR2transforming growth factor beta receptor 2 | Usein (30–79%) | 2 sairaudessa |
| THOC6THO complex subunit 6 | Usein (30–79%) | 1 sairaudessa |
| TMEM70transmembrane protein 70 | Usein (30–79%) | 1 sairaudessa |
| TSHZ3teashirt zinc finger homeobox 3 | Usein (30–79%) | 1 sairaudessa |
| TTNtitin | Usein (30–79%) | 1 sairaudessa |
| USB1U6 snRNA biogenesis phosphodiesterase 1 | Usein (30–79%) | 1 sairaudessa |
| WBP4WW domain binding protein 4 | Usein (30–79%) | 1 sairaudessa |
| WNT5AWnt family member 5A | Usein (30–79%) | 2 sairaudessa |
| XPO1exportin 1 | Usein (30–79%) | 1 sairaudessa |
| ZMPSTE24zinc metallopeptidase STE24 | Usein (30–79%) | 1 sairaudessa |
| ACTA2actin alpha 2, smooth muscle | Joskus (5–29%) | 1 sairaudessa |
| ADAMTS2ADAM metallopeptidase with thrombospondin type 1 motif 2 | Joskus (5–29%) | 1 sairaudessa |
| ADAMTS3ADAM metallopeptidase with thrombospondin type 1 motif 3 | Joskus (5–29%) | 1 sairaudessa |
| ADAMTSL2ADAMTS like 2 | Joskus (5–29%) | 1 sairaudessa |
| AFG2AAAA ATPase AFG2A | Joskus (5–29%) | 1 sairaudessa |
| ALG11ALG11 alpha-1,2-mannosyltransferase | Joskus (5–29%) | 1 sairaudessa |
| AMER1APC membrane recruitment protein 1 | Joskus (5–29%) | 1 sairaudessa |
| ARL6ARF like GTPase 6 | Joskus (5–29%) | 1 sairaudessa |
| ASXL1ASXL transcriptional regulator 1 | Joskus (5–29%) | 2 sairaudessa |
| ASXL3ASXL transcriptional regulator 3 | Joskus (5–29%) | 1 sairaudessa |
| ATG7autophagy related 7 | Joskus (5–29%) | 1 sairaudessa |
| ATXN7L3ataxin 7 like 3 | Joskus (5–29%) | 1 sairaudessa |
| AUTS2activator of transcription and developmental regulator AUTS2 | Joskus (5–29%) | 1 sairaudessa |
| BBIP1BBSome interacting protein 1 | Joskus (5–29%) | 1 sairaudessa |
| BBS1Bardet-Biedl syndrome 1 | Joskus (5–29%) | 1 sairaudessa |
| BBS10Bardet-Biedl syndrome 10 | Joskus (5–29%) | 1 sairaudessa |
| BBS12Bardet-Biedl syndrome 12 | Joskus (5–29%) | 1 sairaudessa |
| BBS2Bardet-Biedl syndrome 2 | Joskus (5–29%) | 1 sairaudessa |
| BBS4Bardet-Biedl syndrome 4 | Joskus (5–29%) | 1 sairaudessa |
| BBS5Bardet-Biedl syndrome 5 | Joskus (5–29%) | 1 sairaudessa |
| BBS7Bardet-Biedl syndrome 7 | Joskus (5–29%) | 1 sairaudessa |
| BBS9Bardet-Biedl syndrome 9 | Joskus (5–29%) | 1 sairaudessa |
| CA2carbonic anhydrase 2 | Joskus (5–29%) | 1 sairaudessa |
| CARS1cysteinyl-tRNA synthetase 1 | Joskus (5–29%) | 1 sairaudessa |
| CCBE1collagen and calcium binding EGF domains 1 | Joskus (5–29%) | 2 sairaudessa |
| CEP19centrosomal protein 19 | Joskus (5–29%) | 1 sairaudessa |
| CEP290centrosomal protein 290 | Joskus (5–29%) | 1 sairaudessa |
| CFAP418cilia and flagella associated protein 418 | Joskus (5–29%) | 1 sairaudessa |
| CHD8chromodomain helicase DNA binding protein 8 | Joskus (5–29%) | 1 sairaudessa |
| COG5component of oligomeric golgi complex 5 | Joskus (5–29%) | 1 sairaudessa |
| COG6component of oligomeric golgi complex 6 | Joskus (5–29%) | 1 sairaudessa |
| CTBP1C-terminal binding protein 1 | Joskus (5–29%) | 1 sairaudessa |
| CTNNB1catenin beta 1 | Joskus (5–29%) | 1 sairaudessa |
| DBR1debranching RNA lariats 1 | Joskus (5–29%) | 2 sairaudessa |
| DDB1damage specific DNA binding protein 1 | Joskus (5–29%) | 1 sairaudessa |
| DOT1LDOT1 like histone lysine methyltransferase | Joskus (5–29%) | 1 sairaudessa |
| DPYDdihydropyrimidine dehydrogenase | Joskus (5–29%) | 1 sairaudessa |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Joskus (5–29%) | 1 sairaudessa |
| ELNelastin | Joskus (5–29%) | 1 sairaudessa |
| EMILIN1elastin microfibril interfacer 1 | Joskus (5–29%) | 1 sairaudessa |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Joskus (5–29%) | 1 sairaudessa |
| EXOC7exocyst complex component 7 | Joskus (5–29%) | 1 sairaudessa |
| EYA1EYA transcriptional coactivator and phosphatase 1 | Joskus (5–29%) | 2 sairaudessa |
| FANCBFA complementation group B | Joskus (5–29%) | 1 sairaudessa |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Joskus (5–29%) | 1 sairaudessa |
| FAT4FAT atypical cadherin 4 | Joskus (5–29%) | 1 sairaudessa |
| FBXO11F-box protein 11 | Joskus (5–29%) | 1 sairaudessa |
| FOXE3forkhead box E3 | Joskus (5–29%) | 1 sairaudessa |
| FRA10AC1FRA10A associated CGG repeat 1 | Joskus (5–29%) | 1 sairaudessa |
| FRMPD4FERM and PDZ domain containing 4 | Joskus (5–29%) | 1 sairaudessa |
| FRYLFRY like transcription coactivator | Joskus (5–29%) | 1 sairaudessa |
| GABRA3gamma-aminobutyric acid type A receptor subunit alpha3 | Joskus (5–29%) | 1 sairaudessa |
| GLDNgliomedin | Joskus (5–29%) | 1 sairaudessa |
| GTF2E2general transcription factor IIE subunit 2 | Joskus (5–29%) | 1 sairaudessa |
| GTF2H5general transcription factor IIH subunit 5 | Joskus (5–29%) | 1 sairaudessa |
| H4C5H4 clustered histone 5 | Joskus (5–29%) | 1 sairaudessa |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Joskus (5–29%) | 1 sairaudessa |
| HEY2hes related family bHLH transcription factor with YRPW motif 2 | Joskus (5–29%) | 1 sairaudessa |
| HIVEP2HIVEP zinc finger 2 | Joskus (5–29%) | 1 sairaudessa |
| HPDL4-hydroxyphenylpyruvate dioxygenase like | Joskus (5–29%) | 1 sairaudessa |
| HS2ST1heparan sulfate 2-O-sulfotransferase 1 | Joskus (5–29%) | 1 sairaudessa |
| IDH1isocitrate dehydrogenase (NADP(+)) 1 | Joskus (5–29%) | 1 sairaudessa |
| IFT172intraflagellar transport 172 | Joskus (5–29%) | 1 sairaudessa |
| IFT27intraflagellar transport 27 | Joskus (5–29%) | 1 sairaudessa |
| IFT74intraflagellar transport 74 | Joskus (5–29%) | 1 sairaudessa |
| JARID2jumonji and AT-rich interaction domain containing 2 | Joskus (5–29%) | 1 sairaudessa |
| KIF26Akinesin family member 26A | Joskus (5–29%) | 1 sairaudessa |
| KMT2Blysine methyltransferase 2B | Joskus (5–29%) | 1 sairaudessa |
| LOXlysyl oxidase | Joskus (5–29%) | 1 sairaudessa |
| LZTFL1leucine zipper transcription factor like 1 | Joskus (5–29%) | 1 sairaudessa |
| MADDMAP kinase activating death domain | Joskus (5–29%) | 1 sairaudessa |
| MAMLD1mastermind like domain containing 1 | Joskus (5–29%) | 1 sairaudessa |
| MAT2Amethionine adenosyltransferase 2A | Joskus (5–29%) | 1 sairaudessa |
| MED25mediator complex subunit 25 | Joskus (5–29%) | 2 sairaudessa |
| MEGF8multiple EGF like domains 8 | Joskus (5–29%) | 1 sairaudessa |
| MFAP5microfibril associated protein 5 | Joskus (5–29%) | 1 sairaudessa |
| MIA3MIA SH3 domain ER export factor 3 | Joskus (5–29%) | 1 sairaudessa |
| MKKSMKKS centrosomal shuttling protein | Joskus (5–29%) | 1 sairaudessa |
| MKS1MKS transition zone complex subunit 1 | Joskus (5–29%) | 1 sairaudessa |
| MPLKIPM-phase specific PLK1 interacting protein | Joskus (5–29%) | 2 sairaudessa |
| MSL2MSL complex subunit 2 | Joskus (5–29%) | 1 sairaudessa |
| MSL3MSL complex subunit 3 | Joskus (5–29%) | 1 sairaudessa |
| MTM1myotubularin 1 | Joskus (5–29%) | 1 sairaudessa |
| MYH11myosin heavy chain 11 | Joskus (5–29%) | 1 sairaudessa |
| MYL11myosin light chain 11 | Joskus (5–29%) | 1 sairaudessa |
| MYLKmyosin light chain kinase | Joskus (5–29%) | 1 sairaudessa |
| NARS1asparaginyl-tRNA synthetase 1 | Joskus (5–29%) | 1 sairaudessa |
| NPHP1nephrocystin 1 | Joskus (5–29%) | 1 sairaudessa |
| NR2F1nuclear receptor subfamily 2 group F member 1 | Joskus (5–29%) | 1 sairaudessa |
| ODC1ornithine decarboxylase 1 | Joskus (5–29%) | 1 sairaudessa |
| PDGFRBplatelet derived growth factor receptor beta | Joskus (5–29%) | 1 sairaudessa |
| PIK3C2Aphosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | Joskus (5–29%) | 1 sairaudessa |
| PRKG1protein kinase cGMP-dependent 1 | Joskus (5–29%) | 1 sairaudessa |
| PRMT7protein arginine methyltransferase 7 | Joskus (5–29%) | 2 sairaudessa |
| RAB34RAB34, member RAS oncogene family | Joskus (5–29%) | 1 sairaudessa |
| RAP1BRAP1B, member of RAS oncogene family | Joskus (5–29%) | 1 sairaudessa |
| RNF113Aring finger protein 113A | Joskus (5–29%) | 1 sairaudessa |
| RNU4-2RNA, U4 small nuclear 2 | Joskus (5–29%) | 1 sairaudessa |
| RSPO2R-spondin 2 | Joskus (5–29%) | 1 sairaudessa |
| RTTNrotatin | Joskus (5–29%) | 1 sairaudessa |
| SCAPERS-phase cyclin A associated protein in the ER | Joskus (5–29%) | 1 sairaudessa |
| SCLT1sodium channel and clathrin linker 1 | Joskus (5–29%) | 1 sairaudessa |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Joskus (5–29%) | 1 sairaudessa |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Joskus (5–29%) | 1 sairaudessa |
| SEC61A1SEC61 translocon subunit alpha 1 | Joskus (5–29%) | 1 sairaudessa |
| SETBP1SET binding protein 1 | Joskus (5–29%) | 1 sairaudessa |
| SGSM3small G protein signaling modulator 3 | Joskus (5–29%) | 1 sairaudessa |
| SIM1SIM bHLH transcription factor 1 | Joskus (5–29%) | 1 sairaudessa |
| SIX1SIX homeobox 1 | Joskus (5–29%) | 1 sairaudessa |
| SIX5SIX homeobox 5 | Joskus (5–29%) | 1 sairaudessa |
| SLC4A10solute carrier family 4 member 10 | Joskus (5–29%) | 1 sairaudessa |
| SMAD2SMAD family member 2 | Joskus (5–29%) | 1 sairaudessa |
| SMAD3SMAD family member 3 | Joskus (5–29%) | 3 sairaudessa |
| SMAD4SMAD family member 4 | Joskus (5–29%) | 1 sairaudessa |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Joskus (5–29%) | 1 sairaudessa |
| SPENspen family transcriptional repressor | Joskus (5–29%) | 1 sairaudessa |
| TARS1threonyl-tRNA synthetase 1 | Joskus (5–29%) | 1 sairaudessa |
| TBCBtubulin folding cofactor B | Joskus (5–29%) | 1 sairaudessa |
| THSD4thrombospondin type 1 domain containing 4 | Joskus (5–29%) | 1 sairaudessa |
| TRIM32tripartite motif containing 32 | Joskus (5–29%) | 1 sairaudessa |
| TRIOtrio Rho guanine nucleotide exchange factor | Joskus (5–29%) | 1 sairaudessa |
| TRIP11thyroid hormone receptor interactor 11 | Joskus (5–29%) | 1 sairaudessa |
| TTC8tetratricopeptide repeat domain 8 | Joskus (5–29%) | 1 sairaudessa |
| WBP11WW domain binding protein 11 | Joskus (5–29%) | 1 sairaudessa |
| WDPCPWD repeat containing planar cell polarity effector | Joskus (5–29%) | 1 sairaudessa |
| WDR11WD repeat domain 11 | Joskus (5–29%) | 1 sairaudessa |
| WDR83OSWD repeat domain 83 opposite strand | Joskus (5–29%) | 1 sairaudessa |
| WSB2WD repeat and SOCS box containing 2 | Joskus (5–29%) | 1 sairaudessa |
| ZFXzinc finger protein X-linked | Joskus (5–29%) | 1 sairaudessa |
| ZNF699zinc finger protein 699 | Joskus (5–29%) | 1 sairaudessa |
| FOXF1forkhead box F1 | Harvinainen (1–4 %) | 1 sairaudessa |
| ACTA1actin alpha 1, skeletal muscle | Ei kirjattu | 1 sairaudessa |
| ARCN1archain 1 coat protein complex I subunit delta | Ei kirjattu | 1 sairaudessa |
| ASXL2ASXL transcriptional regulator 2 | Ei kirjattu | 1 sairaudessa |
| ATP6V1AATPase H+ transporting V1 subunit A | Ei kirjattu | 1 sairaudessa |
| BMP4bone morphogenetic protein 4 | Ei kirjattu | 1 sairaudessa |
| CEP135centrosomal protein 135 | Ei kirjattu | 1 sairaudessa |
| CEP152centrosomal protein 152 | Ei kirjattu | 1 sairaudessa |
| COL3A1collagen type III alpha 1 chain | Ei kirjattu | 1 sairaudessa |
| CREBBPCREB binding lysine acetyltransferase | Ei kirjattu | 1 sairaudessa |
| CRLF1cytokine receptor like factor 1 | Ei kirjattu | 1 sairaudessa |
| CRPPACDP-L-ribitol pyrophosphorylase A | Ei kirjattu | 1 sairaudessa |
| DGCR2DiGeorge syndrome critical region gene 2 | Ei kirjattu | 1 sairaudessa |
| DGCR6DiGeorge syndrome critical region gene 6 | Ei kirjattu | 1 sairaudessa |
| DGCR8DGCR8 microprocessor complex subunit | Ei kirjattu | 1 sairaudessa |
| ESS2ess-2 spliceosome associated protein | Ei kirjattu | 1 sairaudessa |
| GBA1glucosylceramidase beta 1 | Ei kirjattu | 1 sairaudessa |
| GLE1GLE1 RNA export mediator | Ei kirjattu | 1 sairaudessa |
| HDAC8histone deacetylase 8 | Ei kirjattu | 1 sairaudessa |
| IGF1Rinsulin like growth factor 1 receptor | Ei kirjattu | 1 sairaudessa |
| ITGA8integrin subunit alpha 8 | Ei kirjattu | 1 sairaudessa |
| MAGEL2MAGE family member L2 | Ei kirjattu | 1 sairaudessa |
| MBD5methyl-CpG binding domain protein 5 | Ei kirjattu | 1 sairaudessa |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Ei kirjattu | 1 sairaudessa |
| MRPS22mitochondrial ribosomal protein S22 | Ei kirjattu | 1 sairaudessa |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Ei kirjattu | 1 sairaudessa |
| PUS7pseudouridine synthase 7 | Ei kirjattu | 1 sairaudessa |
| RARBretinoic acid receptor beta | Ei kirjattu | 1 sairaudessa |
| RBBP8RB binding protein 8, endonuclease | Ei kirjattu | 1 sairaudessa |
| RPL5ribosomal protein L5 | Ei kirjattu | 1 sairaudessa |
| RPS19ribosomal protein S19 | Ei kirjattu | 1 sairaudessa |
| SF3B4splicing factor 3b subunit 4 | Ei kirjattu | 1 sairaudessa |
| SLC25A24solute carrier family 25 member 24 | Ei kirjattu | 1 sairaudessa |
| SLC6A9solute carrier family 6 member 9 | Ei kirjattu | 1 sairaudessa |
| SMOC1SPARC related modular calcium binding 1 | Ei kirjattu | 1 sairaudessa |
| SRCAPSnf2 related CREBBP activator protein | Ei kirjattu | 1 sairaudessa |
| TBX1T-box transcription factor 1 | Ei kirjattu | 1 sairaudessa |
| TNPO2transportin 2 | Ei kirjattu | 1 sairaudessa |
| TPM2tropomyosin 2 | Ei kirjattu | 1 sairaudessa |
| WDR35WD repeat domain 35 | Ei kirjattu | 1 sairaudessa |
| WNK3WNK lysine deficient protein kinase 3 | Ei kirjattu | 1 sairaudessa |
| ZBTB24zinc finger and BTB domain containing 24 | Ei kirjattu | 1 sairaudessa |
| ZC4H2zinc finger C4H2-type containing | Ei kirjattu | 1 sairaudessa |
| ZNHIT3zinc finger HIT-type containing 3 | Ei kirjattu | 1 sairaudessa |
Kuinka usein ilmiö esiintyy ihmisillä, joilla on jokin geenin sairauksista, niin kuin Human Phenotype Ontology sen kirjaa. Nämä sivut kuvaavat piirteitä ja niiden taustalla olevaa tutkimusta, eivätkä ne ole diagnoosi. Oireista kannattaa kysyä lääkäriltä tai geneettiseltä neuvojalta.
Tarkemmat piirteet
Laajemmat piirteet
Mistä tämä tieto tulee
- Human Phenotype Ontology, julkaisu 2026-09-01: piirre, sen nimet, määritelmä ja siihen liitetyt geenit. Lue lisää osoitteesta hpo.jax.org.
- Tietojulkaisu 2026.10.19-9814e911.
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