AtlasKeitä autammeTieteemmeTuotteetTulokset
Kirjaudu sisäänKysySekvensoi genomisi↗
Piirre
Funnel chest
Kliininen nimi: Pectus excavatum
A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance.
Yhteenveto
- Elimistön järjestelmä
- Abnormality 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/pectus-excavatum.json"
page <- fromJSON(url)
page$trait$nameFunnel chestHP:0000767
AtlasKeitä autammeTieteemmeTuotteetTulokset
Kirjaudu sisäänKysySekvensoi genomisi↗
Lue Funnel chest-nimiseen tai sen kanssa liittyvät geenit ja muu genomisi yhdellä testillä.
Alkaen 449 $Ilmainen toimitus · Tulokset 6–8 viikossa
Tilaa Genome Test158 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.
- Noonan SyndromeReads 20 of these genesBRAFKRASMAP2K1MAP2K2SOS1SPRED2About this report →
- Hypertrophic CardiomyopathyReads 24 of these genesALPK3BRAFKRASMAP2K1MAP2K2SOS1About this report →
- Marfan Like SyndromesReads 9 of these genesTGFBR1TGFBR2FBN1SKIFBN2SMAD2About this report →
- Cutis LaxaReads 11 of these genesEFEMP2ATP6V0A2ATP7AEFEMP1PYCR1RIN2About this report →
Show 154 more reports
- Cornelia de Lange SyndromeReads 6 of these genesBRD4HDAC8NIPBLRAD21SMC1ASMC3About this report →
- Loeys-Dietz SyndromeReads 6 of these genesTGFBR1TGFBR2SMAD2SMAD3TGFB2TGFB3About this report →
- Syndromic CraniosynostosisReads 11 of these genesWDR19WDR35ERFIFT122IFT43IFT52About this report →
- Congenital MyopathiesReads 10 of these genesACTA1CFL2KLHL41LMOD3MAP3K20MYPNAbout this report →
- GPI Anchor Biosynthesis DefectsReads 10 of these genesPIGQPIGLPIGTPGAP2PGAP3PIGBAbout this report →
- Intellectual DisabilityReads 34 of these genesKDM5CNAA10SMSRPS6KA3AHDC1DYRK1AAbout this report →
- Aortic AneurysmReads 7 of these genesTGFBR1TGFBR2FBN1LOXMFAP5TGFB2About this report →
- Ellis-van Creveld Syndrome and Cranioectodermal DysplasiaReads 5 of these genesWDR19WDR35IFT122IFT43IFT52About this report →
- Ehlers-Danlos SyndromeReads 8 of these genesCHST14COL1A2COL5A1AEBP1B3GALT6COL12A1About this report →
- Congenital Disorders of GlycosylationReads 17 of these genesSLC37A4ATP6V0A2CHST14FKTNHES7MGAT2About this report →
- Otospondylomegaepiphyseal Dysplasia (OSMED)Reads 2 of these genesCOL2A1COL11A2About this report →
- Osteogenesis ImperfectaReads 8 of these genesSEC24DATP6V0A2COL1A2KDELR2PYCR1MBTPS2About this report →
- Epiphyseal and Spondyloepiphyseal DysplasiasReads 3 of these genesCOL2A1MATN3XYLT1About this report →
- NeurofibromatosisReads 2 of these genesLZTR1NF1About this report →
- Overgrowth Syndromes (Sotos, Weaver, Tatton-Brown-Rahman, Malan)Reads 2 of these genesNFIXNSD1About this report →
- Aarskog-Scott SyndromeReads 1 of these genesFGD1About this report →
- Amyotrophic Lateral Sclerosis Susceptibility 24 (NEK1)Reads 1 of these genesNEK1About this report →
- Au-Kline SyndromeReads 1 of these genesHNRNPKAbout this report →
- Catel-Manzke SyndromeReads 1 of these genesTGDSAbout this report →
- Cenani-Lenz Syndactyly SyndromeReads 1 of these genesLRP4About this report →
- Christianson SyndromeReads 1 of these genesSLC9A6About this report →
- CHRNG-Related Multiple Pterygium SyndromeReads 1 of these genesCHRNGAbout this report →
- Craniofrontonasal SyndromeReads 1 of these genesEFNB1About this report →
- Dias-Logan SyndromeReads 1 of these genesBCL11AAbout this report →
- DICER1 Tumour PredispositionReads 1 of these genesDICER1About this report →
- Dyssegmental Dysplasia, Silverman-Handmaker TypeReads 1 of these genesHSPG2About this report →
- EBF3-Related Neurodevelopmental Disorder (HADDS)Reads 1 of these genesEBF3About this report →
- Elsahy-Waters SyndromeReads 1 of these genesCDH11About this report →
- FDXR-Related Mitochondrial DisorderReads 1 of these genesFDXRAbout this report →
- Ferguson-Smith Disease (Multiple Self-Healing Squamous Epithelioma)Reads 1 of these genesTGFBR1About this report →
- FGFR3-Related Chondrodysplasias (Achondroplasia and Related Conditions)Reads 1 of these genesFGFR3About this report →
- Fragile X SyndromeReads 1 of these genesFMR1About this report →
- Frank-Ter Haar SyndromeReads 1 of these genesSH3PXD2BAbout this report →
- Gaucher DiseaseReads 1 of these genesGBA1About this report →
- IFAP Syndrome (MBTPS2)Reads 1 of these genesMBTPS2About this report →
- IFT140-Related CiliopathyReads 1 of these genesIFT140About this report →
- ITCH DeficiencyReads 1 of these genesITCHAbout this report →
- Jaberi-Elahi SyndromeReads 1 of these genesGTPBP2About this report →
- Marshall-Smith SyndromeReads 1 of these genesNFIXAbout this report →
- MEGF10-Related MyopathyReads 1 of these genesMEGF10About this report →
- Miller Syndrome (Postaxial Acrofacial Dysostosis)Reads 1 of these genesDHODHAbout this report →
- Mowat-Wilson SyndromeReads 1 of these genesZEB2About this report →
- MTX2-Related Mandibuloacral DysplasiaReads 1 of these genesMTX2About this report →
- Mucopolysaccharidosis Type VII (Sly Syndrome)Reads 1 of these genesGUSBAbout this report →
- Mucopolysaccharidosis-Plus SyndromeReads 1 of these genesVPS33AAbout this report →
- Nail-Patella SyndromeReads 1 of these genesLMX1BAbout this report →
- NOG-Related Symphalangism Spectrum DisorderReads 1 of these genesNOGAbout this report →
- OpsismodysplasiaReads 1 of these genesINPPL1About this report →
- P5CS Deficiency (ALDH18A1-Related)Reads 1 of these genesALDH18A1About this report →
- POLR2A-Related Neurodevelopmental DisorderReads 1 of these genesPOLR2AAbout this report →
- Primrose SyndromeReads 1 of these genesZBTB20About this report →
- Raine SyndromeReads 1 of these genesFAM20CAbout this report →
- Rett Syndrome and MECP2-Related DisordersReads 1 of these genesMECP2About this report →
- Saul-Wilson SyndromeReads 1 of these genesCOG4About this report →
- Schwartz-Jampel Syndrome Type 1Reads 1 of these genesHSPG2About this report →
- SCN4A-Related Congenital MyopathyReads 1 of these genesSCN4AAbout this report →
- Short-Rib Thoracic Dysplasia 7 (WDR35)Reads 1 of these genesWDR35About this report →
- Simpson-Golabi-Behmel SyndromeReads 1 of these genesGPC3About this report →
- Spondylo-Meta-Epiphyseal Dysplasia, Short Limb-Abnormal Calcification TypeReads 1 of these genesDDR2About this report →
- TARP SyndromeReads 1 of these genesRBM10About this report →
- TMEM94-Related Intellectual Disability with Heart DefectsReads 1 of these genesTMEM94About this report →
- Turnpenny-Fry SyndromeReads 1 of these genesPCGF2About this report →
- Vici SyndromeReads 1 of these genesEPG5About this report →
- Wiedemann-Steiner SyndromeReads 1 of these genesKMT2AAbout this report →
- You-Hoover-Fong Syndrome (TELO2)Reads 1 of these genesTELO2About this report →
- Dilated CardiomyopathyReads 7 of these genesEMDFHL1LMNARAF1SYNE1FKTNAbout this report →
- Congenital Muscular DystrophiesReads 5 of these genesFKTNTRIP4COL12A1ITGA7SELENONAbout this report →
- Coffin-Siris SyndromeReads 3 of these genesARID2BICRADPF2About this report →
- Hypogonadotropic HypogonadismReads 6 of these genesSMCHD1FGFR1PLXND1PROKR2WDR11RAB3GAP2About this report →
- Syndromic Complex Neurodevelopmental DisorderReads 4 of these genesPAN2TBCKTRPM3ZFXAbout this report →
- Inherited Congenital Heart DefectsReads 3 of these genesFLNATBX5ELNAbout this report →
- Complex Cortical Dysplasia and Frontoparietal PolymicrogyriaReads 3 of these genesADGRG1TUBBAPC2About this report →
- Epilepsy (Full Panel)Reads 10 of these genesFLNAKDM5CPIGQPUM1MECP2UPF3BAbout this report →
- GlaucomaReads 2 of these genesEFEMP1LTBP2About 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 →
- FLNB-Related Skeletal Dysplasia (Larsen Spectrum)Reads 1 of these genesFLNBAbout this report →
- Hereditary Gingival FibromatosisReads 1 of these genesSOS1About this report →
- Lung CancerReads 1 of these genesDICER1About this report →
- Nevoid Basal Cell Carcinoma (Gorlin) SyndromeReads 1 of these genesPTCH1About this report →
- PRR12-Related Neuroocular SyndromeReads 1 of these genesPRR12About this report →
- Lissencephaly Spectrum DisordersReads 3 of these genesACTBAPC2RAB3GAP2About this report →
- Urinary and Renal System TumourReads 2 of these genesMETRETAbout this report →
- Disorder of Copper MetabolismReads 1 of these genesATP7AAbout this report →
- Familial Periodic ParalysisReads 1 of these genesSCN4AAbout this report →
- Hirschsprung Disease & Related Enteric NeurocristopathiesReads 1 of these genesRETAbout 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 →
- Thyroid Hormone Resistance, Transport & Metabolism DefectsReads 1 of these genesSLC16A2About this report →
- Inherited Neurodegenerative DisordersReads 11 of these genesPUM1TBCKATP7ASYNE1TRIP4ATG7About this report →
- OsteopetrosisReads 2 of these genesCA2AMER1About this report →
- Lysosomal Storage DiseaseReads 4 of these genesGUSBGNPTABMAN2B1GBA1About this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 3 of these genesACTBSCN4ATAF1About this report →
- Primary Lymphoedema & Lymphatic MalformationsReads 2 of these genesCCBE1PIEZO1About this report →
- 46,XX Differences of Sex DevelopmentReads 1 of these genesSRYAbout this report →
- Achondrogenesis panelReads 1 of these genesCOL2A1About this report →
- Familial Atrial FibrillationReads 1 of these genesGJA5About this report →
- Multiple Synostoses Syndrome (FGF9)Reads 1 of these genesNOGAbout this report →
- TubulinopathiesReads 1 of these genesTUBBAbout this report →
- MTOR Pathway Megalencephaly and Overgrowth DisordersReads 1 of these genesPIK3CAAbout this report →
- Periventricular Nodular HeterotopiaReads 1 of these genesFLNAAbout this report →
- Autoimmune DiseaseReads 2 of these genesKRASCHRNGAbout this report →
- Female InfertilityReads 3 of these genesHSD17B4NUP107FMR1About 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 →
- Rare Hereditary Peripheral NeuropathiesReads 6 of these genesFDXRATP7ALMNABICD2FBLN5PDHXAbout this report →
- Congenital Myasthenic SyndromeReads 2 of these genesSCN4ALRP4About this report →
- Microphthalmia, Anophthalmia & ColobomaReads 2 of these genesBCORRAB3GAP2About this report →
- Spinal Muscular AtrophyReads 2 of these genesATP7ABICD2About this report →
- Alpha-Mannosidosis and Other GlycoproteinosesReads 1 of these genesMAN2B1About this report →
- Autoimmune Lymphoproliferative Syndrome (ALPS)Reads 1 of these genesKRASAbout this report →
- Waardenburg SyndromeReads 1 of these genesSOX10About this report →
- Malignant Endocrine NeoplasmReads 1 of these genesRETAbout this report →
- Progressive Cardiac Conduction Disease & Sick Sinus SyndromeReads 1 of these genesLMNAAbout this report →
- Red Blood Cell Membrane DisordersReads 1 of these genesPIEZO1About this report →
- Limb-Girdle Muscular DystrophyReads 2 of these genesLMNAFKTNAbout this report →
- Charcot-Marie-Tooth DiseaseReads 3 of these genesATP7ALMNAFBLN5About this report →
- Imprinting Disorders: Prader-Willi, Silver-Russell and Beckwith-WiedemannReads 1 of these genesNSD1About this report →
- Kidney CancerReads 1 of these genesMETAbout this report →
- Pyruvate Dehydrogenase & Pyruvate Carboxylase DeficiencyReads 1 of these genesPDHXAbout this report →
- Joubert Syndrome And Related DisordersReads 2 of these genesKIF7TCTN3About this report →
- Hereditary Macular DystrophiesReads 1 of these genesEFEMP1About this report →
- Hereditary Pheochromocytoma and ParagangliomaReads 1 of these genesRETAbout this report →
- Male InfertilityReads 2 of these genesBCORL1FKBP6About this report →
- Arrhythmogenic CardiomyopathyReads 1 of these genesTMEM43About this report →
- Polycystic Kidney DiseaseReads 1 of these genesIFT140About this report →
- LipodystrophyReads 1 of these genesLMNAAbout this report →
- Myofibrillar MyopathiesReads 1 of these genesPYROXD1About this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 2 of these genesSYNE1ATG7About this report →
- Glycogen Storage DiseaseReads 1 of these genesSLC37A4About this report →
- Parkinson DiseaseReads 1 of these genesGBA1About this report →
- Ectodermal DysplasiasReads 1 of these genesLEF1About this report →
- 46,XY Differences of Sex Development and Gonadal DysgenesisReads 1 of these genesSRYAbout this report →
- Retinitis PigmentosaReads 2 of these genesIFT140IFT43About this report →
- Homocystinuria & Cobalamin DisordersReads 1 of these genesCBSAbout this report →
- Nephronophthisis and Senior-Løken SyndromeReads 1 of these genesWDR19About this report →
- Dyskeratosis CongenitaReads 1 of these genesDNMT3BAbout this report →
- Hereditary Congenital & Juvenile CataractReads 1 of these genesMAFAbout this report →
- Other Inborn Errors of ImmunityReads 3 of these genesKRASNCF1RELAbout this report →
- Hearing Loss and DeafnessReads 2 of these genesCOL11A2METAbout this report →
- Non-Acquired Combined Pituitary Hormone DeficiencyReads 1 of these genesPTCH1About this report →
- VitreoretinopathyReads 1 of these genesCOL2A1About this report →
- Nephrotic SyndromeReads 1 of these genesNUP107About this report →
- Diabetes MellitusReads 1 of these genesZBTB20About this report →
- Thyroid CancerReads 1 of these genesRETAbout this report →
- Inherited ThrombocytopeniasReads 1 of these genesACTBAbout this report →
- Hereditary Palmoplantar Keratodermas and Pachyonychia CongenitaReads 1 of these genesMBTPS2About this report →
- Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)Reads 1 of these genesPUM1About this report →
- Hereditary Spastic ParaplegiaReads 1 of these genesALDH18A1About this report →
- Leigh SyndromeReads 1 of these genesPDHXAbout this report →
- Other Inherited LeukodystrophiesReads 1 of these genesALDH3A2About this report →
- Primary Mitochondrial DiseaseReads 1 of these genesDNAJC30About this report →
Lue Funnel chest-nimiseen tai sen kanssa liittyvät geenit ja muu genomisi yhdellä testillä.
Alkaen 449 $Ilmainen toimitus · Tulokset 6–8 viikossa
Tilaa Genome Test346 geeniä, jotka liittyvät piirteeseen Funnel chest
Näiden geenien muutokset aiheuttavat harvinaisia sairauksia, joissa Funnel chest 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 |
|---|---|---|
| ALPK3alpha kinase 3 | Aina | 1 sairaudessa |
| ATXN7L3ataxin 7 like 3 | Aina | 1 sairaudessa |
| BCORBCL6 corepressor | Aina | 1 sairaudessa |
| BNIP1BCL2 interacting protein 1 | Aina | 1 sairaudessa |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Aina | 5 sairaudessa |
| CILK1ciliogenesis associated kinase 1 | Aina | 1 sairaudessa |
| CIROZciliated left-right organizer protein containing ZP-N domains | Aina | 1 sairaudessa |
| COL2A1collagen type II alpha 1 chain | Aina | 3 sairaudessa |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Aina | 1 sairaudessa |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Aina | 1 sairaudessa |
| ESAMendothelial cell adhesion molecule | Aina | 1 sairaudessa |
| FDXRferredoxin reductase | Aina | 1 sairaudessa |
| FILIP1filamin A interacting protein 1 | Aina | 1 sairaudessa |
| FLNAfilamin A | Aina | 4 sairaudessa |
| GINS3GINS complex subunit 3 | Aina | 1 sairaudessa |
| GNPNAT1glucosamine-phosphate N-acetyltransferase 1 | Aina | 1 sairaudessa |
| GUSBglucuronidase beta | Aina | 1 sairaudessa |
| IGBP1immunoglobulin binding protein 1 | Aina | 2 sairaudessa |
| ITCHitchy E3 ubiquitin protein ligase | Aina | 1 sairaudessa |
| KDM2Blysine demethylase 2B | Aina | 1 sairaudessa |
| KDM5Clysine demethylase 5C | Aina | 1 sairaudessa |
| KIF7kinesin family member 7 | Aina | 2 sairaudessa |
| KRASKRas proto-oncogene, GTPase | Aina | 4 sairaudessa |
| MAP2K1mitogen-activated protein kinase kinase 1 | Aina | 3 sairaudessa |
| MAP2K2mitogen-activated protein kinase kinase 2 | Aina | 3 sairaudessa |
| MAU2MAU2 sister chromatid cohesion factor | Aina | 2 sairaudessa |
| MYOD1myogenic differentiation 1 | Aina | 1 sairaudessa |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Aina | 2 sairaudessa |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Aina | 1 sairaudessa |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Aina | 1 sairaudessa |
| PUM1pumilio RNA binding family member 1 | Aina | 1 sairaudessa |
| RAB5IFRAB5 interacting factor | Aina | 1 sairaudessa |
| RMP64ribonuclease MRP subunit p64 | Aina | 1 sairaudessa |
| SEC24DSEC24 homolog D, COPII component | Aina | 1 sairaudessa |
| SIK3SIK family kinase 3 | Aina | 1 sairaudessa |
| SLC37A4solute carrier family 37 member 4 | Aina | 1 sairaudessa |
| SMSspermine synthase | Aina | 2 sairaudessa |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Aina | 2 sairaudessa |
| SPRED2sprouty related EVH1 domain containing 2 | Aina | 2 sairaudessa |
| TBCBtubulin folding cofactor B | Aina | 1 sairaudessa |
Näytä 306 geeniä lisää
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| TBCKTBC1 domain containing kinase | Aina | 2 sairaudessa |
| TGFBR1transforming growth factor beta receptor 1 | Aina | 2 sairaudessa |
| WDR19WD repeat domain 19 | Aina | 2 sairaudessa |
| WDR35WD repeat domain 35 | Aina | 2 sairaudessa |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Hyvin usein (80–99%) | 2 sairaudessa |
| ATP7AATPase copper transporting alpha | Hyvin usein (80–99%) | 3 sairaudessa |
| CBLCbl proto-oncogene | Hyvin usein (80–99%) | 2 sairaudessa |
| CDH11cadherin 11 | Hyvin usein (80–99%) | 2 sairaudessa |
| CHRNGcholinergic receptor nicotinic gamma subunit | Hyvin usein (80–99%) | 1 sairaudessa |
| EMDemerin | Hyvin usein (80–99%) | 2 sairaudessa |
| FHL1four and a half LIM domains 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| LMNAlamin A/C | Hyvin usein (80–99%) | 2 sairaudessa |
| LZTR1leucine zipper like post translational regulator 1 | Hyvin usein (80–99%) | 3 sairaudessa |
| MRASmuscle RAS oncogene homolog | Hyvin usein (80–99%) | 2 sairaudessa |
| MYH3myosin heavy chain 3 | Hyvin usein (80–99%) | 1 sairaudessa |
| NRASNRAS proto-oncogene, GTPase | Hyvin usein (80–99%) | 2 sairaudessa |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Hyvin usein (80–99%) | 5 sairaudessa |
| PTCH1patched 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Hyvin usein (80–99%) | 3 sairaudessa |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Hyvin usein (80–99%) | 2 sairaudessa |
| RASA2RAS p21 protein activator 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| RIT1Ras like without CAAX 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| RPS6KA3ribosomal protein S6 kinase A3 | Hyvin usein (80–99%) | 3 sairaudessa |
| RRASRAS related | Hyvin usein (80–99%) | 1 sairaudessa |
| RRAS2RAS related 2 | Hyvin usein (80–99%) | 2 sairaudessa |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| SYNE2spectrin repeat containing nuclear envelope protein 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| TGFBR2transforming growth factor beta receptor 2 | Hyvin usein (80–99%) | 2 sairaudessa |
| TMCO1transmembrane and coiled-coil domains 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| TMEM43transmembrane protein 43 | Hyvin usein (80–99%) | 1 sairaudessa |
| ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase | Usein (30–79%) | 1 sairaudessa |
| ACTBactin beta | Usein (30–79%) | 2 sairaudessa |
| AHDC1AT-hook DNA binding motif containing 1 | Usein (30–79%) | 1 sairaudessa |
| ANAPC7anaphase promoting complex subunit 7 | Usein (30–79%) | 1 sairaudessa |
| AP1G1adaptor related protein complex 1 subunit gamma 1 | Usein (30–79%) | 1 sairaudessa |
| ARID2AT-rich interaction domain 2 | Usein (30–79%) | 1 sairaudessa |
| CBScystathionine beta-synthase | Usein (30–79%) | 2 sairaudessa |
| CD96CD96 molecule | Usein (30–79%) | 1 sairaudessa |
| CHST14carbohydrate sulfotransferase 14 | Usein (30–79%) | 1 sairaudessa |
| COL1A2collagen type I alpha 2 chain | Usein (30–79%) | 2 sairaudessa |
| COL5A1collagen type V alpha 1 chain | Usein (30–79%) | 2 sairaudessa |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Usein (30–79%) | 1 sairaudessa |
| DICER1dicer 1, ribonuclease III | Usein (30–79%) | 1 sairaudessa |
| DLK1delta like non-canonical Notch ligand 1 | Usein (30–79%) | 2 sairaudessa |
| DNMT3BDNA methyltransferase 3 beta | Usein (30–79%) | 1 sairaudessa |
| DUX4double homeobox 4 | Usein (30–79%) | 1 sairaudessa |
| DUX4L1double homeobox 4 like 1 (pseudogene) | 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 |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Usein (30–79%) | 3 sairaudessa |
| EFEMP1EGF-like fibulin extracellular matrix protein 1 | Usein (30–79%) | 1 sairaudessa |
| ERFETS2 repressor factor | Usein (30–79%) | 1 sairaudessa |
| ERI1exoribonuclease 1 | Usein (30–79%) | 1 sairaudessa |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Usein (30–79%) | 1 sairaudessa |
| FBN1fibrillin 1 | Usein (30–79%) | 4 sairaudessa |
| FKTNfukutin | Usein (30–79%) | 2 sairaudessa |
| FRG1FSHD region gene 1 | Usein (30–79%) | 1 sairaudessa |
| FZD2frizzled class receptor 2 | Usein (30–79%) | 1 sairaudessa |
| GPC3glypican 3 | Usein (30–79%) | 2 sairaudessa |
| GPC4glypican 4 | Usein (30–79%) | 1 sairaudessa |
| HES7hes family bHLH transcription factor 7 | Usein (30–79%) | 1 sairaudessa |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Usein (30–79%) | 1 sairaudessa |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Usein (30–79%) | 1 sairaudessa |
| HYAL2hyaluronidase 2 | Usein (30–79%) | 1 sairaudessa |
| IFT122intraflagellar transport 122 | Usein (30–79%) | 2 sairaudessa |
| IFT140intraflagellar transport 140 | Usein (30–79%) | 1 sairaudessa |
| IFT43intraflagellar transport 43 | Usein (30–79%) | 1 sairaudessa |
| IFT52intraflagellar transport 52 | Usein (30–79%) | 1 sairaudessa |
| IGF1Rinsulin like growth factor 1 receptor | Usein (30–79%) | 2 sairaudessa |
| INTS1integrator complex subunit 1 | Usein (30–79%) | 1 sairaudessa |
| IPO8importin 8 | Usein (30–79%) | 2 sairaudessa |
| IRX5iroquois homeobox 5 | Usein (30–79%) | 1 sairaudessa |
| KDELR2KDEL endoplasmic reticulum protein retention receptor 2 | Usein (30–79%) | 1 sairaudessa |
| MECP2methyl-CpG binding protein 2 | Usein (30–79%) | 1 sairaudessa |
| MED12mediator complex subunit 12 | Usein (30–79%) | 2 sairaudessa |
| MEG3maternally expressed 3 | Usein (30–79%) | 2 sairaudessa |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Usein (30–79%) | 2 sairaudessa |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Usein (30–79%) | 2 sairaudessa |
| NF1neurofibromin 1 | Usein (30–79%) | 3 sairaudessa |
| NFIXnuclear factor I X | Usein (30–79%) | 3 sairaudessa |
| NOTCH3notch receptor 3 | Usein (30–79%) | 2 sairaudessa |
| NXNnucleoredoxin | Usein (30–79%) | 1 sairaudessa |
| OSGEPO-sialoglycoprotein endopeptidase | Usein (30–79%) | 1 sairaudessa |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Usein (30–79%) | 2 sairaudessa |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Usein (30–79%) | 2 sairaudessa |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Usein (30–79%) | 2 sairaudessa |
| PPP2R1Aprotein phosphatase 2 scaffold subunit Aalpha | Usein (30–79%) | 2 sairaudessa |
| PRR12proline rich 12 | Usein (30–79%) | 1 sairaudessa |
| PTENphosphatase and tensin homolog | Usein (30–79%) | 3 sairaudessa |
| PYCR1pyrroline-5-carboxylate reductase 1 | Usein (30–79%) | 1 sairaudessa |
| RIN2Ras and Rab interactor 2 | Usein (30–79%) | 1 sairaudessa |
| RNU5B-1RNA, U5B small nuclear 1 | Usein (30–79%) | 1 sairaudessa |
| ROR2ROR family WNT receptor 2 | Usein (30–79%) | 2 sairaudessa |
| RTL1retrotransposon Gag like 1 | Usein (30–79%) | 2 sairaudessa |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Usein (30–79%) | 2 sairaudessa |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Usein (30–79%) | 2 sairaudessa |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Usein (30–79%) | 1 sairaudessa |
| SKISKI proto-oncogene | Usein (30–79%) | 2 sairaudessa |
| SLC16A2solute carrier family 16 member 2 | Usein (30–79%) | 2 sairaudessa |
| SLC9A6solute carrier family 9 member A6 | Usein (30–79%) | 1 sairaudessa |
| SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1 | Usein (30–79%) | 1 sairaudessa |
| TBX5T-box transcription factor 5 | Usein (30–79%) | 2 sairaudessa |
| TRIP4thyroid hormone receptor interactor 4 | Usein (30–79%) | 2 sairaudessa |
| UPF3BUPF3B regulator of nonsense mediated mRNA decay | Usein (30–79%) | 2 sairaudessa |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Usein (30–79%) | 1 sairaudessa |
| WNT5AWnt family member 5A | Usein (30–79%) | 2 sairaudessa |
| ZBTB20zinc finger and BTB domain containing 20 | Usein (30–79%) | 2 sairaudessa |
| ZDHHC9zDHHC palmitoyltransferase 9 | Usein (30–79%) | 1 sairaudessa |
| ACTA1actin alpha 1, skeletal muscle | Joskus (5–29%) | 2 sairaudessa |
| ADGRG1adhesion G protein-coupled receptor G1 | Joskus (5–29%) | 1 sairaudessa |
| ADNPactivity dependent neuroprotector homeobox | Joskus (5–29%) | 1 sairaudessa |
| AEBP1AE binding protein 1 | Joskus (5–29%) | 1 sairaudessa |
| ASPHaspartate beta-hydroxylase | Joskus (5–29%) | 1 sairaudessa |
| ASXL1ASXL transcriptional regulator 1 | Joskus (5–29%) | 1 sairaudessa |
| ATG7autophagy related 7 | Joskus (5–29%) | 1 sairaudessa |
| ATP2B1ATPase plasma membrane Ca2+ transporting 1 | Joskus (5–29%) | 1 sairaudessa |
| B3GALT6beta-1,3-galactosyltransferase 6 | Joskus (5–29%) | 2 sairaudessa |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Joskus (5–29%) | 1 sairaudessa |
| BCL11ABCL11 transcription factor A | Joskus (5–29%) | 1 sairaudessa |
| BCORL1BCL6 corepressor like 1 | Joskus (5–29%) | 1 sairaudessa |
| BICD2BICD cargo adaptor 2 | Joskus (5–29%) | 1 sairaudessa |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Joskus (5–29%) | 1 sairaudessa |
| BRD4bromodomain containing 4 | Joskus (5–29%) | 1 sairaudessa |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Joskus (5–29%) | 1 sairaudessa |
| CA2carbonic anhydrase 2 | Joskus (5–29%) | 1 sairaudessa |
| CDC42BPBCDC42 binding protein kinase beta | Joskus (5–29%) | 1 sairaudessa |
| CFL2cofilin 2 | Joskus (5–29%) | 1 sairaudessa |
| CHRM3cholinergic receptor muscarinic 3 | Joskus (5–29%) | 2 sairaudessa |
| CHST11carbohydrate sulfotransferase 11 | Joskus (5–29%) | 1 sairaudessa |
| CLIP2CAP-Gly domain containing linker protein 2 | Joskus (5–29%) | 1 sairaudessa |
| COL11A2collagen type XI alpha 2 chain | Joskus (5–29%) | 1 sairaudessa |
| COL12A1collagen type XII alpha 1 chain | Joskus (5–29%) | 1 sairaudessa |
| COL3A1collagen type III alpha 1 chain | Joskus (5–29%) | 1 sairaudessa |
| CRELD1CRELD disulfide isomerase 1 | Joskus (5–29%) | 1 sairaudessa |
| CUX1cut like homeobox 1 | Joskus (5–29%) | 1 sairaudessa |
| DDR2discoidin domain receptor tyrosine kinase 2 | Joskus (5–29%) | 1 sairaudessa |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Joskus (5–29%) | 1 sairaudessa |
| DPF2double PHD fingers 2 | Joskus (5–29%) | 1 sairaudessa |
| EFNB1ephrin B1 | Joskus (5–29%) | 2 sairaudessa |
| EHMT1euchromatic histone lysine methyltransferase 1 | Joskus (5–29%) | 1 sairaudessa |
| EIF4Heukaryotic translation initiation factor 4H | Joskus (5–29%) | 1 sairaudessa |
| ELNelastin | Joskus (5–29%) | 2 sairaudessa |
| EPG5ectopic P-granules 5 autophagy tethering factor | Joskus (5–29%) | 1 sairaudessa |
| EXTL3exostosin like glycosyltransferase 3 | Joskus (5–29%) | 1 sairaudessa |
| FAM20CFAM20C golgi associated secretory pathway kinase | Joskus (5–29%) | 1 sairaudessa |
| FBN2fibrillin 2 | Joskus (5–29%) | 1 sairaudessa |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Joskus (5–29%) | 2 sairaudessa |
| FGFR1fibroblast growth factor receptor 1 | Joskus (5–29%) | 1 sairaudessa |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Joskus (5–29%) | 1 sairaudessa |
| GDF11growth differentiation factor 11 | Joskus (5–29%) | 1 sairaudessa |
| GNB1G protein subunit beta 1 | Joskus (5–29%) | 2 sairaudessa |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Joskus (5–29%) | 1 sairaudessa |
| GTF2Igeneral transcription factor IIi | Joskus (5–29%) | 1 sairaudessa |
| GTF2IRD1GTF2I repeat domain containing 1 | Joskus (5–29%) | 1 sairaudessa |
| GTF2IRD2GTF2I repeat domain containing 2 | Joskus (5–29%) | 1 sairaudessa |
| GTPBP2GTP binding protein 2 | Joskus (5–29%) | 1 sairaudessa |
| HACD13-hydroxyacyl-CoA dehydratase 1 | Joskus (5–29%) | 1 sairaudessa |
| HDAC8histone deacetylase 8 | Joskus (5–29%) | 1 sairaudessa |
| HS2ST1heparan sulfate 2-O-sulfotransferase 1 | Joskus (5–29%) | 1 sairaudessa |
| HSPG2heparan sulfate proteoglycan 2 | Joskus (5–29%) | 1 sairaudessa |
| IHHIndian hedgehog signaling molecule | Joskus (5–29%) | 2 sairaudessa |
| INPPL1inositol polyphosphate phosphatase like 1 | Joskus (5–29%) | 1 sairaudessa |
| ITGA7integrin subunit alpha 7 | Joskus (5–29%) | 1 sairaudessa |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Joskus (5–29%) | 1 sairaudessa |
| KAT6Alysine acetyltransferase 6A | Joskus (5–29%) | 1 sairaudessa |
| KDM5Alysine demethylase 5A | Joskus (5–29%) | 1 sairaudessa |
| KLHL20kelch like family member 20 | Joskus (5–29%) | 1 sairaudessa |
| KLHL41kelch like family member 41 | Joskus (5–29%) | 1 sairaudessa |
| KMT2Alysine methyltransferase 2A | Joskus (5–29%) | 1 sairaudessa |
| LEF1lymphoid enhancer binding factor 1 | Joskus (5–29%) | 1 sairaudessa |
| LIMK1LIM domain kinase 1 | Joskus (5–29%) | 1 sairaudessa |
| LMBRD2LMBR1 domain containing 2 | Joskus (5–29%) | 1 sairaudessa |
| LMOD3leiomodin 3 | Joskus (5–29%) | 1 sairaudessa |
| LMX1BLIM homeobox transcription factor 1 beta | Joskus (5–29%) | 2 sairaudessa |
| LOXlysyl oxidase | Joskus (5–29%) | 1 sairaudessa |
| LRP4LDL receptor related protein 4 | Joskus (5–29%) | 1 sairaudessa |
| LTBP1latent transforming growth factor beta binding protein 1 | Joskus (5–29%) | 1 sairaudessa |
| LTBP2latent transforming growth factor beta binding protein 2 | Joskus (5–29%) | 1 sairaudessa |
| MAFMAF bZIP transcription factor | Joskus (5–29%) | 1 sairaudessa |
| MAN2B1mannosidase alpha class 2B member 1 | Joskus (5–29%) | 1 sairaudessa |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Joskus (5–29%) | 1 sairaudessa |
| MAPRE2microtubule associated protein RP/EB family member 2 | Joskus (5–29%) | 1 sairaudessa |
| MATN3matrilin 3 | Joskus (5–29%) | 2 sairaudessa |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Joskus (5–29%) | 1 sairaudessa |
| MEGF8multiple EGF like domains 8 | Joskus (5–29%) | 1 sairaudessa |
| METMET proto-oncogene, receptor tyrosine kinase | Joskus (5–29%) | 1 sairaudessa |
| METTL27methyltransferase like 27 | Joskus (5–29%) | 1 sairaudessa |
| MFAP5microfibril associated protein 5 | Joskus (5–29%) | 1 sairaudessa |
| MLXIPLMLX interacting protein like | Joskus (5–29%) | 1 sairaudessa |
| MSL2MSL complex subunit 2 | Joskus (5–29%) | 1 sairaudessa |
| MTX2metaxin 2 | Joskus (5–29%) | 1 sairaudessa |
| MYL2myosin light chain 2 | Joskus (5–29%) | 1 sairaudessa |
| MYPNmyopalladin | Joskus (5–29%) | 2 sairaudessa |
| NARS1asparaginyl-tRNA synthetase 1 | Joskus (5–29%) | 1 sairaudessa |
| NCF1neutrophil cytosolic factor 1 | Joskus (5–29%) | 1 sairaudessa |
| NEBnebulin | Joskus (5–29%) | 1 sairaudessa |
| NEK1NIMA related kinase 1 | Joskus (5–29%) | 1 sairaudessa |
| NIPBLNIPBL cohesin loading factor | Joskus (5–29%) | 1 sairaudessa |
| NKAPNFKB activating protein | Joskus (5–29%) | 1 sairaudessa |
| NPR3natriuretic peptide receptor 3 | Joskus (5–29%) | 1 sairaudessa |
| NUP107nucleoporin 107 | Joskus (5–29%) | 1 sairaudessa |
| PACS1phosphofurin acidic cluster sorting protein 1 | Joskus (5–29%) | 1 sairaudessa |
| PCGF2polycomb group ring finger 2 | Joskus (5–29%) | 1 sairaudessa |
| PGAP2post-GPI attachment to proteins 2 | Joskus (5–29%) | 1 sairaudessa |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Joskus (5–29%) | 1 sairaudessa |
| PI4KAphosphatidylinositol 4-kinase alpha | Joskus (5–29%) | 1 sairaudessa |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Joskus (5–29%) | 1 sairaudessa |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Joskus (5–29%) | 1 sairaudessa |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Joskus (5–29%) | 1 sairaudessa |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Joskus (5–29%) | 1 sairaudessa |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Joskus (5–29%) | 1 sairaudessa |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Joskus (5–29%) | 1 sairaudessa |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Joskus (5–29%) | 3 sairaudessa |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Joskus (5–29%) | 1 sairaudessa |
| PLXND1plexin D1 | Joskus (5–29%) | 1 sairaudessa |
| POLR2ARNA polymerase II subunit A | Joskus (5–29%) | 1 sairaudessa |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Joskus (5–29%) | 2 sairaudessa |
| PQBP1polyglutamine binding protein 1 | Joskus (5–29%) | 1 sairaudessa |
| PROKR2prokineticin receptor 2 | Joskus (5–29%) | 1 sairaudessa |
| PTBP1polypyrimidine tract binding protein 1 | Joskus (5–29%) | 1 sairaudessa |
| PUF60poly(U) binding splicing factor 60 | Joskus (5–29%) | 2 sairaudessa |
| PYROXD1pyridine nucleotide-disulphide oxidoreductase domain 1 | Joskus (5–29%) | 1 sairaudessa |
| RAD21RAD21 cohesin complex component | Joskus (5–29%) | 1 sairaudessa |
| RBM10RNA binding motif protein 10 | Joskus (5–29%) | 2 sairaudessa |
| RELREL proto-oncogene, NF-kB subunit | Joskus (5–29%) | 1 sairaudessa |
| RFC2replication factor C subunit 2 | Joskus (5–29%) | 1 sairaudessa |
| RPL17ribosomal protein L17 | Joskus (5–29%) | 1 sairaudessa |
| SCAF4SR-related CTD associated factor 4 | Joskus (5–29%) | 1 sairaudessa |
| SELENONselenoprotein N | Joskus (5–29%) | 1 sairaudessa |
| SLC2A10solute carrier family 2 member 10 | Joskus (5–29%) | 1 sairaudessa |
| SMAD2SMAD family member 2 | Joskus (5–29%) | 1 sairaudessa |
| SMAD3SMAD family member 3 | Joskus (5–29%) | 2 sairaudessa |
| SMC1Astructural maintenance of chromosomes 1A | Joskus (5–29%) | 1 sairaudessa |
| SMC3structural maintenance of chromosomes 3 | Joskus (5–29%) | 1 sairaudessa |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Joskus (5–29%) | 1 sairaudessa |
| SPRED1sprouty related EVH1 domain containing 1 | Joskus (5–29%) | 1 sairaudessa |
| SRPX2sushi repeat containing protein X-linked 2 | Joskus (5–29%) | 1 sairaudessa |
| SRYsex determining region Y | Joskus (5–29%) | 1 sairaudessa |
| STX1Asyntaxin 1A | Joskus (5–29%) | 1 sairaudessa |
| TAF1TATA-box binding protein associated factor 1 | Joskus (5–29%) | 1 sairaudessa |
| TBL2transducin beta like 2 | Joskus (5–29%) | 1 sairaudessa |
| TELO2telomere maintenance 2 | Joskus (5–29%) | 1 sairaudessa |
| TGDSTDP-glucose 4,6-dehydratase | Joskus (5–29%) | 2 sairaudessa |
| TGFB2transforming growth factor beta 2 | Joskus (5–29%) | 1 sairaudessa |
| TGFB3transforming growth factor beta 3 | Joskus (5–29%) | 2 sairaudessa |
| THSD4thrombospondin type 1 domain containing 4 | Joskus (5–29%) | 1 sairaudessa |
| TMEM270transmembrane protein 270 | Joskus (5–29%) | 1 sairaudessa |
| TMEM94transmembrane protein 94 | Joskus (5–29%) | 1 sairaudessa |
| TPM2tropomyosin 2 | Joskus (5–29%) | 3 sairaudessa |
| TPM3tropomyosin 3 | Joskus (5–29%) | 3 sairaudessa |
| TRIOtrio Rho guanine nucleotide exchange factor | Joskus (5–29%) | 2 sairaudessa |
| TRMT10AtRNA methyltransferase 10A | Joskus (5–29%) | 1 sairaudessa |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Joskus (5–29%) | 1 sairaudessa |
| TUBBtubulin beta class I | Joskus (5–29%) | 1 sairaudessa |
| VPS13Bvacuolar protein sorting 13 homolog B | Joskus (5–29%) | 1 sairaudessa |
| VPS37DVPS37D subunit of ESCRT-I | Joskus (5–29%) | 1 sairaudessa |
| WBP11WW domain binding protein 11 | Joskus (5–29%) | 1 sairaudessa |
| WDR11WD repeat domain 11 | Joskus (5–29%) | 1 sairaudessa |
| XPO1exportin 1 | Joskus (5–29%) | 1 sairaudessa |
| XYLT1xylosyltransferase 1 | Joskus (5–29%) | 1 sairaudessa |
| ZEB2zinc finger E-box binding homeobox 2 | Joskus (5–29%) | 3 sairaudessa |
| ZFXzinc finger protein X-linked | Joskus (5–29%) | 1 sairaudessa |
| ZMIZ1zinc finger MIZ-type containing 1 | Joskus (5–29%) | 1 sairaudessa |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Harvinainen (1–4 %) | 1 sairaudessa |
| APC2APC regulator of Wnt signaling pathway 2 | Harvinainen (1–4 %) | 1 sairaudessa |
| CCDC47coiled-coil domain containing 47 | Harvinainen (1–4 %) | 1 sairaudessa |
| EBF3EBF transcription factor 3 | Harvinainen (1–4 %) | 1 sairaudessa |
| GBA1glucosylceramidase beta 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| GJA5gap junction protein alpha 5 | Harvinainen (1–4 %) | 1 sairaudessa |
| GJA8gap junction protein alpha 8 | Harvinainen (1–4 %) | 1 sairaudessa |
| KDM6Blysine demethylase 6B | Harvinainen (1–4 %) | 1 sairaudessa |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Harvinainen (1–4 %) | 1 sairaudessa |
| NSD1nuclear receptor binding SET domain protein 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| TBCDtubulin folding cofactor D | Harvinainen (1–4 %) | 1 sairaudessa |
| ADAMTSL2ADAMTS like 2 | Ei kirjattu | 1 sairaudessa |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Ei kirjattu | 1 sairaudessa |
| AMER1APC membrane recruitment protein 1 | Ei kirjattu | 1 sairaudessa |
| B3GLCTbeta 3-glucosyltransferase | Ei kirjattu | 1 sairaudessa |
| BMP2bone morphogenetic protein 2 | Ei kirjattu | 1 sairaudessa |
| CCBE1collagen and calcium binding EGF domains 1 | Ei kirjattu | 1 sairaudessa |
| COG4component of oligomeric golgi complex 4 | Ei kirjattu | 1 sairaudessa |
| CREBBPCREB binding lysine acetyltransferase | Ei kirjattu | 1 sairaudessa |
| CRTAPcartilage associated protein | Ei kirjattu | 1 sairaudessa |
| CUL7cullin 7 | Ei kirjattu | 1 sairaudessa |
| DHODHdihydroorotate dehydrogenase (quinone) | Ei kirjattu | 1 sairaudessa |
| EP300EP300 lysine acetyltransferase | Ei kirjattu | 1 sairaudessa |
| FBLN5fibulin 5 | Ei kirjattu | 1 sairaudessa |
| FGFR3fibroblast growth factor receptor 3 | Ei kirjattu | 1 sairaudessa |
| FLNBfilamin B | Ei kirjattu | 1 sairaudessa |
| FMR1fragile X messenger ribonucleoprotein 1 | Ei kirjattu | 1 sairaudessa |
| HPGD15-hydroxyprostaglandin dehydrogenase | Ei kirjattu | 1 sairaudessa |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Ei kirjattu | 1 sairaudessa |
| MEGF10multiple EGF like domains 10 | Ei kirjattu | 1 sairaudessa |
| MYF5myogenic factor 5 | Ei kirjattu | 1 sairaudessa |
| NOGnoggin | Ei kirjattu | 1 sairaudessa |
| PDHXpyruvate dehydrogenase complex component X | Ei kirjattu | 1 sairaudessa |
| PIEZO1piezo type mechanosensitive ion channel component 1 (Er blood group) | Ei kirjattu | 1 sairaudessa |
| PPIBpeptidylprolyl isomerase B | Ei kirjattu | 1 sairaudessa |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Ei kirjattu | 1 sairaudessa |
| RETret proto-oncogene | Ei kirjattu | 1 sairaudessa |
| SCARF2scavenger receptor class F member 2 | Ei kirjattu | 1 sairaudessa |
| SH3PXD2BSH3 and PX domains 2B | Ei kirjattu | 1 sairaudessa |
| SOX10SRY-box transcription factor 10 | Ei kirjattu | 1 sairaudessa |
| SPRTNSprT-like N-terminal domain | Ei kirjattu | 1 sairaudessa |
| TCTN3tectonic family member 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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