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Egenskap
Drooping upper eyelid
Kliniskt namn: Ptosis
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
Sammanfattning
- Även kallad
- Eye drop, Blepharoptosis, Eyelid ptosis, Palpebral ptosis
- Kroppssystem
- Abnormality of the eye
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Den här sidan som data
Lägg till .json i sidans adress, eller begär application/json, för att läsa den som JSON.
library(jsonlite)
url <- "https://dantelabs.com/traits/ptosis.json"
page <- fromJSON(url)
page$trait$nameDrooping upper eyelidHP:0000508
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Logga inFrågaSekvensera ditt genom↗
Läs generna kopplade till Drooping upper eyelid, och resten av ditt genom, med ett enda test.
Från 449 $Fri frakt · Resultat inom 6–8 veckor
Beställ mitt Genome Test233 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.
- Primary Mitochondrial DiseaseReads 72 of these genesAFG3L2COX10GUK1MPV17POLGSLC25A4About this report →
- Joubert Syndrome And Related DisordersReads 36 of these genesFAM149B1INPP5EMKS1TMEM67CSPP1ARMC9About this report →
- Congenital Myasthenic SyndromeReads 26 of these genesAGRNCHRNB1CHRNDCHRNECOL13A1GFPT1About this report →
- Rare Hereditary Peripheral NeuropathiesReads 74 of these genesCOX10DSTMPV17POLGPRPS1PSAPAbout this report →
Show 229 more reports
- Noonan SyndromeReads 21 of these genesMAP2K2SOS1BRAFCBLHRASKRASAbout this report →
- Inherited Neurodegenerative DisordersReads 85 of these genesAFG3L2HNRNPA2B1IFIH1IREB2ITPR1KIF5AAbout this report →
- Epilepsy (Full Panel)Reads 61 of these genesPIGQRNU2-2SNAP25MECP2CPLX1PUM1About this report →
- Fanconi AnemiaReads 18 of these genesBRCA1BRCA2BRIP1ERCC4FANCAFANCBAbout this report →
- Leigh SyndromeReads 34 of these genesCOX10FOXRED1MT-ND1MT-ND3NDUFA1NDUFA9About this report →
- Intellectual DisabilityReads 60 of these genesARID1ACHD8KDM6BMED12PRMT7SMSAbout this report →
- Diamond-Blackfan AnemiaReads 14 of these genesGATA1HEATR3RPL11RPL15RPL26RPL35AAbout this report →
- Zellweger Spectrum & Peroxisome Biogenesis DisordersReads 14 of these genesPEX1PEX10PEX11BPEX12PEX13PEX14About this report →
- Coffin-Siris SyndromeReads 11 of these genesARID1AARID1BARID2DPF2SMARCA4SMARCB1About this report →
- Other Inherited LeukodystrophiesReads 28 of these genesIFIH1PSAPPEX1PEX10PEX11BPEX12About this report →
- Congenital MyopathiesReads 14 of these genesTTNDNM2RYR1BIN1ACTA1CFL2About this report →
- Hypertrophic CardiomyopathyReads 23 of these genesMAP2K2SOS1BRAFHRASKRASLZTR1About this report →
- Aicardi-Goutieres SyndromeReads 8 of these genesIFIH1ADARRNASEH2ARNASEH2BRNASEH2CRNU7-1About this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 21 of these genesMKS1TMEM67CSPP1TWNKANO10CC2D2AAbout this report →
- DNA Repair DiseaseReads 18 of these genesBRCA1BRCA2BRIP1ERCC4FANCAFANCBAbout this report →
- Congenital Cranial Dysinnervation DisordersReads 7 of these genesCOL25A1KIF21APHOX2ATUBA1ATUBB3CHN1About this report →
- Meckel SyndromeReads 8 of these genesMKS1TMEM67RPGRIP1LTMEM231B9D1B9D2About this report →
- Cornelia de Lange SyndromeReads 6 of these genesBRD4HDAC8NIPBLRAD21SMC1ASMC3About this report →
- Hypogonadotropic HypogonadismReads 17 of these genesFGFR1PLXND1REV3LCHD7ANOS1FEZF1About this report →
- Waardenburg SyndromeReads 6 of these genesEDNRBKITLGMITFPAX3SNAI2SOX10About this report →
- Syndromic Complex Neurodevelopmental DisorderReads 9 of these genesPAN2BRPF1SETD5QRICH1TFE3TRAF7About this report →
- Syndromic CraniosynostosisReads 9 of these genesFGFR2FGFR1ZNF462FGFR3KAT6ASKIAbout this report →
- BH4 Deficiency & Monoamine Neurotransmitter DisordersReads 6 of these genesSLC18A2DBHDDCSPRTHPTSAbout this report →
- Familial Hemiplegic MigraineReads 3 of these genesATP1A2CACNA1ASCN1AAbout this report →
- Rhabdoid Tumour and SWI/SNF Tumour PredispositionReads 3 of these genesSMARCA4SMARCB1SMARCE1About this report →
- Charcot-Marie-Tooth DiseaseReads 14 of these genesMPV17PRPS1SLC5A7DNM2LMNASCO2About this report →
- Marfan Like SyndromesReads 5 of these genesTGFB3FBN1SKITGFBR1TGFB2About this report →
- Rare Monogenic Autoinflammatory DiseasesReads 9 of these genesIFIH1ADARRNASEH2ARNASEH2BRNASEH2CRNU7-1About this report →
- Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)Reads 9 of these genesAFG3L2ITPR1GRM1PUM1ATP1A3CACNA1AAbout this report →
- NeurofibromatosisReads 3 of these genesLZTR1NF1SMARCB1About this report →
- Amyotrophic Lateral Sclerosis (ALS)Reads 8 of these genesANXA11TUBA4ACHCHD10FUSSQSTM1TARDBPAbout this report →
- Carey-Fineman-Ziter SyndromeReads 2 of these genesMYMKMYMXAbout this report →
- Hereditary Breast and Ovarian Cancer (BRCA1/2)Reads 2 of these genesBRCA1BRCA2About this report →
- Kabuki SyndromeReads 2 of these genesKDM6AKMT2DAbout this report →
- Frontotemporal DementiaReads 5 of these genesHNRNPA2B1CHCHD10SQSTM1TBK1VCPAbout this report →
- Hereditary Optic NeuropathyReads 5 of these genesAFG3L2MT-ND1ATP1A3DNM1LOPA1About this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 8 of these genesSCN4ASLC18A2ACTBSPRTOR1ATSPOAP1About this report →
- Cutis LaxaReads 5 of these genesEFEMP1ALDH18A1ATP6V1AELNFBLN5About this report →
- Loeys-Dietz SyndromeReads 3 of these genesTGFB3TGFBR1TGFB2About this report →
- Distal MyopathiesReads 5 of these genesGIPC1HNRNPA2B1TTNLRP12VCPAbout this report →
- Congenital Disorders of GlycosylationReads 11 of these genesPIGLGMPPBPIGGALG14ALG2DHDDSAbout this report →
- Bardet-Biedl and Alström SyndromesReads 5 of these genesMKS1ARL6BBS1CEP290IFT74About this report →
- Lissencephaly Spectrum DisordersReads 5 of these genesACTG1ACTBTUBA1ATBC1D20RAB3GAP1About this report →
- Inherited ThrombocytopeniasReads 6 of these genesCDC42ACTBFLI1GP1BBRBM8AGATA1About this report →
- Limb-Girdle Muscular DystrophyReads 6 of these genesTTNLMNAGMPPBPLECJAG2TNPO3About this report →
- Primary Lymphoedema & Lymphatic MalformationsReads 4 of these genesFOXC2KIF11GJC2FAT4About this report →
- Anterior Segment Dysgenesis, Axenfeld-Rieger Syndrome & AniridiaReads 3 of these genesITPR1PAX6FOXC1About this report →
- Breast and Ovarian Cancer Genes Beyond BRCA1/2Reads 3 of these genesBRIP1PALB2RAD51CAbout this report →
- Complex Neurodevelopmental Disorder With Motor FeaturesReads 3 of these genesCACNA1ACACNA1BKMT2BAbout this report →
- Complex Neurodevelopmental Disorder (TRRAP, MYH10, RERE, SOX11)Reads 2 of these genesSOX11REREAbout this report →
- TubulinopathiesReads 2 of these genesTUBA1ATUBB3About this report →
- 22q11.2 Deletion SyndromeReads 1 of these genesTBX1About this report →
- 3MC Syndrome 1 (MASP1)Reads 1 of these genesMASP1About this report →
- Aarskog-Scott SyndromeReads 1 of these genesFGD1About this report →
- Acromelic Frontonasal DysostosisReads 1 of these genesZSWIM6About this report →
- Alacrima, Achalasia and Intellectual Disability Syndrome (GMPPA)Reads 1 of these genesGMPPAAbout this report →
- ATP1A2-Related Fetal Akinesia with PolymicrogyriaReads 1 of these genesATP1A2About this report →
- Au-Kline SyndromeReads 1 of these genesHNRNPKAbout this report →
- Auriculocondylar Syndrome 2 (PLCB4)Reads 1 of these genesPLCB4About this report →
- Bailey-Bloch Congenital MyopathyReads 1 of these genesSTAC3About 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 →
- Björnstad SyndromeReads 1 of these genesBCS1LAbout this report →
- Cenani-Lenz Syndactyly SyndromeReads 1 of these genesLRP4About this report →
- CEP290-Related CiliopathyReads 1 of these genesCEP290About this report →
- CHARGE SyndromeReads 1 of these genesCHD7About this report →
- CHRNG-Related Multiple Pterygium SyndromeReads 1 of these genesCHRNGAbout this report →
- Chung-Jansen Syndrome (PHIP)Reads 1 of these genesPHIPAbout this report →
- DCC-Related Mirror Movements and Agenesis of the Corpus CallosumReads 1 of these genesDCCAbout this report →
- Deficiency of Adenosine Deaminase 2 (DADA2)Reads 1 of these genesADA2About this report →
- Dias-Logan SyndromeReads 1 of these genesBCL11AAbout this report →
- Dravet SyndromeReads 1 of these genesSCN1AAbout this report →
- Dyschromatosis Symmetrica HereditariaReads 1 of these genesADARAbout this report →
- Dyssegmental Dysplasia, Silverman-Handmaker TypeReads 1 of these genesHSPG2About this report →
- Elsahy-Waters SyndromeReads 1 of these genesCDH11About this report →
- FANCM-Related Genomic Instability DisorderReads 1 of these genesFANCMAbout this report →
- FAT4-Related Neurodevelopmental DisorderReads 1 of these genesFAT4About 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 →
- Frontonasal Dysplasia 3 (ALX1)Reads 1 of these genesALX1About this report →
- FrontorhinyReads 1 of these genesALX3About this report →
- Gaucher DiseaseReads 1 of these genesGBA1About this report →
- Greig Cephalopolysyndactyly SyndromeReads 1 of these genesGLI3About this report →
- Hereditary RetinoblastomaReads 1 of these genesRB1About this report →
- IFAP Syndrome (MBTPS2)Reads 1 of these genesMBTPS2About this report →
- ITCH DeficiencyReads 1 of these genesITCHAbout this report →
- Jaberi-Elahi SyndromeReads 1 of these genesGTPBP2About this report →
- JARID2-Related Neurodevelopmental DisorderReads 1 of these genesJARID2About this report →
- Kaufman Oculocerebrofacial SyndromeReads 1 of these genesUBE3BAbout this report →
- KDM1A-Related Neurodevelopmental DisorderReads 1 of these genesKDM1AAbout this report →
- KIF5A-Related Amyotrophic Lateral SclerosisReads 1 of these genesKIF5AAbout this report →
- Klippel-Feil Anomaly with Myopathy (MYO18B)Reads 1 of these genesMYO18BAbout this report →
- Mowat-Wilson SyndromeReads 1 of these genesZEB2About this report →
- Mucopolysaccharidosis Type II (Hunter Syndrome)Reads 1 of these genesIDSAbout this report →
- MYH2-Related MyopathyReads 1 of these genesMYH2About this report →
- Nail-Patella SyndromeReads 1 of these genesLMX1BAbout this report →
- NGLY1 DeficiencyReads 1 of these genesNGLY1About this report →
- NOG-Related Symphalangism Spectrum DisorderReads 1 of these genesNOGAbout this report →
- OFD1-Related CiliopathyReads 1 of these genesOFD1About this report →
- OPA1-Related Optic AtrophyReads 1 of these genesOPA1About this report →
- P5CS Deficiency (ALDH18A1-Related)Reads 1 of these genesALDH18A1About this report →
- PALB2 related diseasesReads 1 of these genesPALB2About this report →
- Perlman SyndromeReads 1 of these genesDIS3L2About this report →
- PLEC-Related Epidermolysis Bullosa and Muscular DystrophyReads 1 of these genesPLECAbout this report →
- Polyglucosan Body Myopathy 1 (RBCK1)Reads 1 of these genesRBCK1About this report →
- Primary Failure of Tooth EruptionReads 1 of these genesPTH1RAbout this report →
- Primrose SyndromeReads 1 of these genesZBTB20About this report →
- Prolidase DeficiencyReads 1 of these genesPEPDAbout this report →
- Rett Syndrome and MECP2-Related DisordersReads 1 of these genesMECP2About this report →
- Roberts SyndromeReads 1 of these genesESCO2About this report →
- Salla Disease and Free Sialic Acid Storage DiseaseReads 1 of these genesSLC17A5About this report →
- Schwartz-Jampel Syndrome Type 1Reads 1 of these genesHSPG2About 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 →
- Smith-Lemli-Opitz SyndromeReads 1 of these genesDHCR7About this report →
- Stankiewicz-Isidor SyndromeReads 1 of these genesPSMD12About this report →
- UNC13A-Related Neurodevelopmental DisordersReads 1 of these genesUNC13AAbout 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 →
- ZIC1-Related CraniosynostosisReads 1 of these genesZIC1About this report →
- Dilated CardiomyopathyReads 7 of these genesTTNLMNARAF1EMDFHL1SYNE1About this report →
- Non-Acquired Combined Pituitary Hormone DeficiencyReads 5 of these genesGLI3GLI2HESX1ROBO1TGIF1About this report →
- GPI Anchor Biosynthesis DefectsReads 4 of these genesPIGQPIGLPIGGPIGBAbout this report →
- MTOR Pathway Megalencephaly and Overgrowth DisordersReads 2 of these genesPIK3CAPIK3R2About this report →
- Urinary and Renal System TumourReads 3 of these genesPAX6BAP1SDHAAbout this report →
- Aortic AneurysmReads 3 of these genesFBN1TGFBR1TGFB2About this report →
- Inherited Congenital Heart DefectsReads 3 of these genesTFAP2BELNFLNAAbout this report →
- Myofibrillar MyopathiesReads 3 of these genesTTNRYR1PYROXD1About this report →
- Hereditary Visceral Myopathy, CIPO & MMIHSReads 2 of these genesERBB3FLNAAbout this report →
- Complex Cortical Dysplasia and Frontoparietal PolymicrogyriaReads 3 of these genesTUBA1ATUBB2BTUBB3About this report →
- Microphthalmia, Anophthalmia & ColobomaReads 4 of these genesNDUFB11BCORTBC1D20RAB3GAP1About this report →
- Other Inborn Errors of ImmunityReads 11 of these genesIFIH1KRASRELTBX1ADARRNASEH2AAbout this report →
- GlaucomaReads 2 of these genesEFEMP1FOXC1About this report →
- Malignant Endocrine NeoplasmReads 2 of these genesMEN1SDHAAbout 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 genesAKT1About this report →
- CystinuriaReads 1 of these genesSLC3A1About this report →
- DOORS SyndromeReads 1 of these genesTBC1D24About this report →
- Encephalopathy due to Mitochondrial and Peroxisomal Fission DefectReads 1 of these genesDNM1LAbout this report →
- Familial Isolated Pituitary Adenoma (FIPA / X-LAG)Reads 1 of these genesAIPAbout this report →
- Fontaine Progeroid SyndromeReads 1 of these genesSLC25A4About this report →
- Hereditary FibromatosesReads 1 of these genesPDGFRBAbout this report →
- Hereditary Gingival FibromatosisReads 1 of these genesSOS1About this report →
- Hereditary Wilms TumourReads 1 of these genesWT1About this report →
- Juvenile Polyposis SyndromeReads 1 of these genesSMAD4About this report →
- Malignant Hyperthermia SusceptibilityReads 1 of these genesRYR1About this report →
- Metachromatic LeukodystrophyReads 1 of these genesPSAPAbout this report →
- Nevoid Basal Cell Carcinoma (Gorlin) SyndromeReads 1 of these genesSUFUAbout this report →
- PRR12-Related Neuroocular SyndromeReads 1 of these genesPRR12About this report →
- Riboflavin Transporter DeficiencyReads 1 of these genesSLC52A3About this report →
- Wolfram Syndrome & WFS1 SpectrumReads 1 of these genesWFS1About this report →
- 46,XY Differences of Sex Development and Gonadal DysgenesisReads 3 of these genesWT1DHX37ATRXAbout this report →
- Female InfertilityReads 5 of these genesFOXL2TWNKTUBA4AFANCMTP63About this report →
- Osteogenesis ImperfectaReads 4 of these genesIFIH1COL1A2MBTPS2PPIBAbout this report →
- Retinitis PigmentosaReads 6 of these genesARL6CC2D2AARL3DHDDSOFD1HK1About this report →
- Nephronophthisis and Senior-Løken SyndromeReads 3 of these genesTMEM67ZNF423NPHP1About this report →
- Kidney CancerReads 2 of these genesPAX6BAP1About this report →
- Pyruvate Dehydrogenase & Pyruvate Carboxylase DeficiencyReads 2 of these genesDLATPDHA1About this report →
- Autoimmune DiseaseReads 3 of these genesCHRNGKRASTREX1About this report →
- Lysosomal Storage DiseaseReads 5 of these genesPSAPABHD5GBA1IDSSLC17A5About this report →
- Hearing Loss and DeafnessReads 6 of these genesACTG1PRPS1CDH23KITLGTBC1D24WFS1About this report →
- Type I InterferonopathiesReads 2 of these genesIFIH1TREX1About this report →
- Cerebral Creatine Deficiency SyndromesReads 1 of these genesSLC6A8About this report →
- Familial Periodic ParalysisReads 1 of these genesSCN4AAbout this report →
- Hirschsprung Disease & Related Enteric NeurocristopathiesReads 1 of these genesKIFBPAbout this report →
- MedulloblastomaReads 1 of these genesSUFUAbout this report →
- Thyroid Hormone Resistance, Transport & Metabolism DefectsReads 1 of these genesSECISBP2About this report →
- Spinal Muscular AtrophyReads 3 of these genesSLC5A7CHCHD10UBA1About this report →
- Diabetes MellitusReads 3 of these genesMT-TL1PAX6ZBTB20About this report →
- Parkinson DiseaseReads 2 of these genesSYNJ1GBA1About this report →
- Familial Paget Disease of BoneReads 1 of these genesSQSTM1About this report →
- Hereditary Episodic AtaxiasReads 1 of these genesCACNA1AAbout this report →
- Hereditary Hemorrhagic TelangiectasiaReads 1 of these genesSMAD4About this report →
- MelanomaReads 1 of these genesMITFAbout this report →
- Moyamoya DiseaseReads 1 of these genesSAMHD1About this report →
- Multiple Synostoses Syndrome (FGF9)Reads 1 of these genesNOGAbout this report →
- Pseudohypoparathyroidism & GNAS-Inactivation DisordersReads 1 of these genesPDE4DAbout this report →
- Thiamine Transporter and Metabolism DisordersReads 1 of these genesSLC19A3About this report →
- Treacher Collins SyndromeReads 1 of these genesTCOF1About this report →
- Hereditary Spastic ParaplegiaReads 4 of these genesKIF5AALDH18A1FARS2GJC2About this report →
- Epidermolysis BullosaReads 2 of these genesDSTPLECAbout this report →
- Periventricular Nodular HeterotopiaReads 1 of these genesFLNAAbout this report →
- Sclerosing Bone Dysplasias (High Bone Mass)Reads 1 of these genesSOSTAbout this report →
- Ehlers-Danlos SyndromeReads 2 of these genesPLOD1COL1A2About this report →
- Hereditary Congenital & Juvenile CataractReads 2 of these genesMAFWFS1About this report →
- Growth Hormone Insensitivity & IGF-1 Axis DisordersReads 1 of these genesIGF1About this report →
- Peroxisomal Enzyme Disorders & Refsum DiseaseReads 1 of these genesPHYHAbout this report →
- Syndromic and Metabolic CardiomyopathiesReads 1 of these genesSLC25A4About this report →
- Systemic Lupus ErythematosusReads 1 of these genesTREX1About this report →
- Autoimmune Lymphoproliferative Syndrome (ALPS)Reads 1 of these genesKRASAbout this report →
- Basal Ganglia CalcificationReads 1 of these genesPDGFRBAbout this report →
- Colorectal Cancer & PolyposisReads 1 of these genesAPCAbout this report →
- Hereditary HypolipoproteinemiasReads 1 of these genesMTTPAbout this report →
- Inherited Parathyroid & Calcium-Sensing DisordersReads 1 of these genesGATA3About this report →
- Congenital Muscular DystrophiesReads 2 of these genesDOK7GMPPBAbout this report →
- Nephrotic SyndromeReads 2 of these genesLAMB2SGPL1About this report →
- Thyroid CancerReads 2 of these genesMEN1SECISBP2About this report →
- Disorders of Glycine & Serine MetabolismReads 1 of these genesSLC6A9About this report →
- Hepatic Porphyria DisordersReads 1 of these genesHMBSAbout this report →
- Hereditary Sideroblastic AnaemiasReads 1 of these genesYARS2About this report →
- Oculocutaneous AlbinismReads 1 of these genesTYRAbout this report →
- Progressive Cardiac Conduction Disease & Sick Sinus SyndromeReads 1 of these genesLMNAAbout this report →
- Purine & Pyrimidine Metabolism DisordersReads 1 of these genesPRPS1About this report →
- Pyruvate Kinase Deficiency and Other Red Cell Enzyme DisordersReads 1 of these genesHK1About this report →
- Autism Spectrum DisorderReads 1 of these genesCHD8About this report →
- Epiphyseal and Spondyloepiphyseal DysplasiasReads 1 of these genesCOL9A3About this report →
- Inherited Platelet Function DisordersReads 1 of these genesGP1BBAbout this report →
- PorphyriaReads 1 of these genesHMBSAbout this report →
- Hereditary Macular DystrophiesReads 1 of these genesEFEMP1About this report →
- Hereditary Pheochromocytoma and ParagangliomaReads 1 of these genesSDHAAbout this report →
- Arrhythmogenic CardiomyopathyReads 1 of these genesTMEM43About this report →
- HyperinsulinismReads 1 of these genesHK1About this report →
- Usher SyndromeReads 1 of these genesCDH23About this report →
- Hereditary AmyloidosisReads 1 of these genesTTRAbout this report →
- LipodystrophyReads 1 of these genesLMNAAbout this report →
- Autosomal Recessive Primary MicrocephalyReads 1 of these genesANKLE2About this report →
- Ectodermal DysplasiasReads 1 of these genesTP63About this report →
- Hereditary Corneal DystrophiesReads 1 of these genesPRDX3About this report →
- Congenital HypothyroidismReads 1 of these genesSECISBP2About this report →
- Hereditary Sensory and Autonomic Neuropathies (incl. Familial Dysautonomia)Reads 1 of these genesDSTAbout this report →
- Leber Congenital Amaurosis & RPE65-Related RetinopathyReads 1 of these genesCEP290About this report →
- Pontocerebellar Hypoplasia (TSEN54 and MINPP1)Reads 1 of these genesMINPP1About this report →
- Pelizaeus-Merzbacher Disease & Hypomyelinating LeukodystrophiesReads 1 of these genesGJC2About this report →
- VitreoretinopathyReads 1 of these genesCOL9A3About this report →
- Hereditary Palmoplantar Keratodermas and Pachyonychia CongenitaReads 1 of these genesMBTPS2About this report →
- Male InfertilityReads 1 of these genesFANCMAbout this report →
Läs generna kopplade till Drooping upper eyelid, och resten av ditt genom, med ett enda test.
Från 449 $Fri frakt · Resultat inom 6–8 veckor
Beställ mitt Genome Test763 gener kopplade till Drooping upper eyelid
Förändringar i dessa gener orsakar sällsynta tillstånd där Drooping upper eyelid förekommer. De flesta med denna egenskap har inget av dessa tillstånd, och en gen på listan säger ingenting om någons eget genom.
| Gen | Hur ofta den förekommer | Tillstånd |
|---|---|---|
| ABCD3ATP binding cassette subfamily D member 3 | Alltid | I 1 tillstånd |
| ACTG1actin gamma 1 | Alltid | I 2 tillstånd |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Alltid | I 4 tillstånd |
| AGRNagrin | Alltid | I 1 tillstånd |
| AMOTL1angiomotin like 1 | Alltid | I 1 tillstånd |
| ARID1AAT-rich interaction domain 1A | Alltid | I 2 tillstånd |
| CCDC47coiled-coil domain containing 47 | Alltid | I 1 tillstånd |
| CDC42cell division cycle 42 | Alltid | I 2 tillstånd |
| CHD8chromodomain helicase DNA binding protein 8 | Alltid | I 1 tillstånd |
| CHRNB1cholinergic receptor nicotinic beta 1 subunit | Alltid | I 1 tillstånd |
| CHRNDcholinergic receptor nicotinic delta subunit | Alltid | I 3 tillstånd |
| CHRNEcholinergic receptor nicotinic epsilon subunit | Alltid | I 3 tillstånd |
| CHRNGcholinergic receptor nicotinic gamma subunit | Alltid | I 2 tillstånd |
| COL13A1collagen type XIII alpha 1 chain | Alltid | I 2 tillstånd |
| COLEC11collectin subfamily member 11 | Alltid | I 2 tillstånd |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Alltid | I 2 tillstånd |
| CRELD1CRELD disulfide isomerase 1 | Alltid | I 1 tillstånd |
| DHCR77-dehydrocholesterol reductase | Alltid | I 2 tillstånd |
| DSTdystonin | Alltid | I 1 tillstånd |
| ERBB2erb-b2 receptor tyrosine kinase 2 | Alltid | I 1 tillstånd |
| ERI1exoribonuclease 1 | Alltid | I 1 tillstånd |
| FAM149B1family with sequence similarity 149 member B1 | Alltid | I 1 tillstånd |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Alltid | I 1 tillstånd |
| FGFR2fibroblast growth factor receptor 2 | Alltid | I 7 tillstånd |
| FILIP1filamin A interacting protein 1 | Alltid | I 1 tillstånd |
| FOXL2forkhead box L2 | Alltid | I 2 tillstånd |
| GATA3GATA binding protein 3 | Alltid | I 1 tillstånd |
| GFPT1glutamine--fructose-6-phosphate transaminase 1 | Alltid | I 3 tillstånd |
| GIPC1GIPC PDZ domain containing family member 1 | Alltid | I 1 tillstånd |
| GTPBP1GTP binding protein 1 | Alltid | I 1 tillstånd |
| GUK1guanylate kinase 1 | Alltid | I 1 tillstånd |
| HMBShydroxymethylbilane synthase | Alltid | I 1 tillstånd |
| HMGB3high mobility group box 3 | Alltid | I 1 tillstånd |
| HNRNPA2B1heterogeneous nuclear ribonucleoprotein A2/B1 | Alltid | I 1 tillstånd |
| IFIH1interferon induced with helicase C domain 1 | Alltid | I 2 tillstånd |
| IGF1insulin like growth factor 1 | Alltid | I 2 tillstånd |
| INPP5Einositol polyphosphate-5-phosphatase E | Alltid | I 4 tillstånd |
| IREB2iron responsive element binding protein 2 | Alltid | I 1 tillstånd |
| ITCHitchy E3 ubiquitin protein ligase | Alltid | I 2 tillstånd |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Alltid | I 2 tillstånd |
Visa 723 gener till
| Gen | Hur ofta den förekommer | Tillstånd |
|---|---|---|
| JPH1junctophilin 1 | Alltid | I 1 tillstånd |
| KDM6Blysine demethylase 6B | Alltid | I 1 tillstånd |
| KIF5Akinesin family member 5A | Alltid | I 1 tillstånd |
| LGI4leucine rich repeat LGI family member 4 | Alltid | I 1 tillstånd |
| LONP1lon peptidase 1, mitochondrial | Alltid | I 2 tillstånd |
| LRP4LDL receptor related protein 4 | Alltid | I 3 tillstånd |
| MAP2K2mitogen-activated protein kinase kinase 2 | Alltid | I 4 tillstånd |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Alltid | I 1 tillstånd |
| MARK3microtubule affinity regulating kinase 3 | Alltid | I 1 tillstånd |
| MASP1MBL associated serine protease 1 | Alltid | I 2 tillstånd |
| MED12mediator complex subunit 12 | Alltid | I 2 tillstånd |
| MKS1MKS transition zone complex subunit 1 | Alltid | I 3 tillstånd |
| MPV17mitochondrial inner membrane protein MPV17 | Alltid | I 1 tillstånd |
| MRPS28mitochondrial ribosomal protein S28 | Alltid | I 1 tillstånd |
| MUSKmuscle associated receptor tyrosine kinase | Alltid | I 3 tillstånd |
| MYH2myosin heavy chain 2 | Alltid | I 1 tillstånd |
| MYO18Bmyosin XVIIIB | Alltid | I 1 tillstånd |
| MYOD1myogenic differentiation 1 | Alltid | I 1 tillstånd |
| NAA80N-alpha-acetyltransferase 80, NatH catalytic subunit | Alltid | I 1 tillstånd |
| NOTCH2NLCnotch 2 N-terminal like C | Alltid | I 1 tillstånd |
| NOTCH3notch receptor 3 | Alltid | I 2 tillstånd |
| NUTM2B-AS1NUTM2B antisense RNA 1 | Alltid | I 1 tillstånd |
| PABPN1poly(A) binding protein nuclear 1 | Alltid | I 2 tillstånd |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Alltid | I 1 tillstånd |
| PAX7paired box 7 | Alltid | I 1 tillstånd |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Alltid | I 5 tillstånd |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Alltid | I 1 tillstånd |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Alltid | I 1 tillstånd |
| POLGDNA polymerase gamma, catalytic subunit | Alltid | I 9 tillstånd |
| PREPLprolyl endopeptidase like | Alltid | I 2 tillstånd |
| PRMT7protein arginine methyltransferase 7 | Alltid | I 1 tillstånd |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Alltid | I 1 tillstånd |
| PSAPprosaposin | Alltid | I 1 tillstånd |
| PTH1Rparathyroid hormone 1 receptor | Alltid | I 1 tillstånd |
| RAPSNreceptor associated protein of the synapse | Alltid | I 1 tillstånd |
| RBSNrabenosyn, RAB effector | Alltid | I 1 tillstånd |
| RILPL1Rab interacting lysosomal protein like 1 | Alltid | I 1 tillstånd |
| RNU2-2RNA, U2 small nuclear 2 | Alltid | I 1 tillstånd |
| RNU5B-1RNA, U5B small nuclear 1 | Alltid | I 1 tillstånd |
| RRM1ribonucleotide reductase catalytic subunit M1 | Alltid | I 2 tillstånd |
| SC5Dsterol-C5-desaturase | Alltid | I 2 tillstånd |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Alltid | I 2 tillstånd |
| SLC18A2solute carrier family 18 member A2 | Alltid | I 2 tillstånd |
| SLC18A3solute carrier family 18 member A3 | Alltid | I 1 tillstånd |
| SLC25A4solute carrier family 25 member 4 | Alltid | I 2 tillstånd |
| SLC30A9solute carrier family 30 member 9 | Alltid | I 1 tillstånd |
| SLC5A7solute carrier family 5 member 7 | Alltid | I 1 tillstånd |
| SMSspermine synthase | Alltid | I 1 tillstånd |
| SNAP25synaptosome associated protein 25 | Alltid | I 1 tillstånd |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Alltid | I 2 tillstånd |
| STAC3SH3 and cysteine rich domain 3 | Alltid | I 1 tillstånd |
| TAF8TATA-box binding protein associated factor 8 | Alltid | I 1 tillstånd |
| TAMM41TAM41 mitochondrial translocator assembly and maintenance homolog | Alltid | I 1 tillstånd |
| TBCBtubulin folding cofactor B | Alltid | I 1 tillstånd |
| TGFB3transforming growth factor beta 3 | Alltid | I 1 tillstånd |
| TK2thymidine kinase 2 | Alltid | I 2 tillstånd |
| TLK2tousled like kinase 2 | Alltid | I 1 tillstånd |
| TMEM67transmembrane protein 67 | Alltid | I 5 tillstånd |
| TOP3ADNA topoisomerase III alpha | Alltid | I 2 tillstånd |
| TTNtitin | Alltid | I 1 tillstånd |
| TYMPthymidine phosphorylase | Alltid | I 2 tillstånd |
| VARS2valyl-tRNA synthetase 2, mitochondrial | Alltid | I 1 tillstånd |
| YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | Alltid | I 1 tillstånd |
| ACKR3atypical chemokine receptor 3 | Mycket ofta (80–99 %) | I 1 tillstånd |
| ACTBactin beta | Mycket ofta (80–99 %) | I 2 tillstånd |
| ANKRD11ankyrin repeat domain 11 | Mycket ofta (80–99 %) | I 1 tillstånd |
| BCL11ABCL11 transcription factor A | Mycket ofta (80–99 %) | I 1 tillstånd |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Mycket ofta (80–99 %) | I 5 tillstånd |
| BRPF1bromodomain and PHD finger containing 1 | Mycket ofta (80–99 %) | I 1 tillstånd |
| CBLCbl proto-oncogene | Mycket ofta (80–99 %) | I 2 tillstånd |
| COL25A1collagen type XXV alpha 1 chain | Mycket ofta (80–99 %) | I 2 tillstånd |
| COLEC10collectin subfamily member 10 | Mycket ofta (80–99 %) | I 2 tillstånd |
| CSPP1centrosome and spindle pole associated protein 1 | Mycket ofta (80–99 %) | I 2 tillstånd |
| DNM2dynamin 2 | Mycket ofta (80–99 %) | I 2 tillstånd |
| FGFR1fibroblast growth factor receptor 1 | Mycket ofta (80–99 %) | I 2 tillstånd |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Mycket ofta (80–99 %) | I 1 tillstånd |
| HRASHRas proto-oncogene, GTPase | Mycket ofta (80–99 %) | I 2 tillstånd |
| KIF21Akinesin family member 21A | Mycket ofta (80–99 %) | I 1 tillstånd |
| KRASKRas proto-oncogene, GTPase | Mycket ofta (80–99 %) | I 5 tillstånd |
| LMNAlamin A/C | Mycket ofta (80–99 %) | I 3 tillstånd |
| LRP12LDL receptor related protein 12 | Mycket ofta (80–99 %) | I 1 tillstånd |
| LZTR1leucine zipper like post translational regulator 1 | Mycket ofta (80–99 %) | I 3 tillstånd |
| MAPK1mitogen-activated protein kinase 1 | Mycket ofta (80–99 %) | I 1 tillstånd |
| MECP2methyl-CpG binding protein 2 | Mycket ofta (80–99 %) | I 2 tillstånd |
| MRASmuscle RAS oncogene homolog | Mycket ofta (80–99 %) | I 2 tillstånd |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Mycket ofta (80–99 %) | I 1 tillstånd |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Mycket ofta (80–99 %) | I 1 tillstånd |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Mycket ofta (80–99 %) | I 1 tillstånd |
| MTMR14myotubularin related protein 14 | Mycket ofta (80–99 %) | I 2 tillstånd |
| MYF5myogenic factor 5 | Mycket ofta (80–99 %) | I 1 tillstånd |
| MYMKmyomaker, myoblast fusion factor | Mycket ofta (80–99 %) | I 2 tillstånd |
| MYMXmyomixer, myoblast fusion factor | Mycket ofta (80–99 %) | I 1 tillstånd |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Mycket ofta (80–99 %) | I 1 tillstånd |
| NDUFA11NADH:ubiquinone oxidoreductase subunit A11 | Mycket ofta (80–99 %) | I 1 tillstånd |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Mycket ofta (80–99 %) | I 1 tillstånd |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Mycket ofta (80–99 %) | I 1 tillstånd |
| NDUFAF1NADH:ubiquinone oxidoreductase complex assembly factor 1 | Mycket ofta (80–99 %) | I 1 tillstånd |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Mycket ofta (80–99 %) | I 1 tillstånd |
| NDUFAF3NADH:ubiquinone oxidoreductase complex assembly factor 3 | Mycket ofta (80–99 %) | I 1 tillstånd |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Mycket ofta (80–99 %) | I 1 tillstånd |
| NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5 | Mycket ofta (80–99 %) | I 2 tillstånd |
| NDUFAF8NADH:ubiquinone oxidoreductase complex assembly factor 8 | Mycket ofta (80–99 %) | I 1 tillstånd |
| NDUFB10NADH:ubiquinone oxidoreductase subunit B10 | Mycket ofta (80–99 %) | I 1 tillstånd |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Mycket ofta (80–99 %) | I 1 tillstånd |
| NDUFB3NADH:ubiquinone oxidoreductase subunit B3 | Mycket ofta (80–99 %) | I 1 tillstånd |
| NDUFB9NADH:ubiquinone oxidoreductase subunit B9 | Mycket ofta (80–99 %) | I 1 tillstånd |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Mycket ofta (80–99 %) | I 2 tillstånd |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Mycket ofta (80–99 %) | I 1 tillstånd |
| NDUFS3NADH:ubiquinone oxidoreductase core subunit S3 | Mycket ofta (80–99 %) | I 1 tillstånd |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Mycket ofta (80–99 %) | I 2 tillstånd |
| NDUFS6NADH:ubiquinone oxidoreductase subunit S6 | Mycket ofta (80–99 %) | I 1 tillstånd |
| NDUFS7NADH:ubiquinone oxidoreductase core subunit S7 | Mycket ofta (80–99 %) | I 1 tillstånd |
| NDUFS8NADH:ubiquinone oxidoreductase core subunit S8 | Mycket ofta (80–99 %) | I 1 tillstånd |
| NDUFV1NADH:ubiquinone oxidoreductase core subunit V1 | Mycket ofta (80–99 %) | I 2 tillstånd |
| NDUFV2NADH:ubiquinone oxidoreductase core subunit V2 | Mycket ofta (80–99 %) | I 1 tillstånd |
| NF1neurofibromin 1 | Mycket ofta (80–99 %) | I 2 tillstånd |
| NRASNRAS proto-oncogene, GTPase | Mycket ofta (80–99 %) | I 2 tillstånd |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Mycket ofta (80–99 %) | I 1 tillstånd |
| PHOX2Apaired like homeobox 2A | Mycket ofta (80–99 %) | I 1 tillstånd |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Mycket ofta (80–99 %) | I 2 tillstånd |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Mycket ofta (80–99 %) | I 1 tillstånd |
| PLXND1plexin D1 | Mycket ofta (80–99 %) | I 1 tillstånd |
| POLG2DNA polymerase gamma 2, accessory subunit | Mycket ofta (80–99 %) | I 2 tillstånd |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Mycket ofta (80–99 %) | I 4 tillstånd |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Mycket ofta (80–99 %) | I 3 tillstånd |
| RASA2RAS p21 protein activator 2 | Mycket ofta (80–99 %) | I 1 tillstånd |
| RELREL proto-oncogene, NF-kB subunit | Mycket ofta (80–99 %) | I 1 tillstånd |
| REV3LREV3 like, DNA directed polymerase zeta catalytic subunit | Mycket ofta (80–99 %) | I 1 tillstånd |
| RIT1Ras like without CAAX 1 | Mycket ofta (80–99 %) | I 2 tillstånd |
| RRASRAS related | Mycket ofta (80–99 %) | I 1 tillstånd |
| RRAS2RAS related 2 | Mycket ofta (80–99 %) | I 1 tillstånd |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Mycket ofta (80–99 %) | I 4 tillstånd |
| RYR1ryanodine receptor 1 | Mycket ofta (80–99 %) | I 5 tillstånd |
| SETD5SET domain containing 5 | Mycket ofta (80–99 %) | I 2 tillstånd |
| SIX2SIX homeobox 2 | Mycket ofta (80–99 %) | I 1 tillstånd |
| SLC3A1solute carrier family 3 member 1 | Mycket ofta (80–99 %) | I 1 tillstånd |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Mycket ofta (80–99 %) | I 2 tillstånd |
| SPRED2sprouty related EVH1 domain containing 2 | Mycket ofta (80–99 %) | I 1 tillstånd |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Mycket ofta (80–99 %) | I 2 tillstånd |
| TFAP2Btranscription factor AP-2 beta | Mycket ofta (80–99 %) | I 2 tillstånd |
| TIMMDC1translocase of inner mitochondrial membrane domain containing 1 | Mycket ofta (80–99 %) | I 1 tillstånd |
| TMEM126Btransmembrane protein 126B | Mycket ofta (80–99 %) | I 1 tillstånd |
| TUBA1Atubulin alpha 1a | Mycket ofta (80–99 %) | I 1 tillstånd |
| TUBB2Btubulin beta 2B class IIb | Mycket ofta (80–99 %) | I 1 tillstånd |
| TUBB3tubulin beta 3 class III | Mycket ofta (80–99 %) | I 2 tillstånd |
| TWNKtwinkle mtDNA helicase | Mycket ofta (80–99 %) | I 4 tillstånd |
| XPO1exportin 1 | Mycket ofta (80–99 %) | I 1 tillstånd |
| ZNF462zinc finger protein 462 | Mycket ofta (80–99 %) | I 2 tillstånd |
| ABHD5abhydrolase domain containing 5, lysophosphatidic acid acyltransferase | Ofta (30–79 %) | I 1 tillstånd |
| AHDC1AT-hook DNA binding motif containing 1 | Ofta (30–79 %) | I 1 tillstånd |
| ALX1ALX homeobox 1 | Ofta (30–79 %) | I 1 tillstånd |
| ALX3ALX homeobox 3 | Ofta (30–79 %) | I 2 tillstånd |
| ANKLE2ankyrin repeat and LEM domain containing 2 | Ofta (30–79 %) | I 1 tillstånd |
| ANO10anoctamin 10 | Ofta (30–79 %) | I 1 tillstånd |
| ANXA11annexin A11 | Ofta (30–79 %) | I 1 tillstånd |
| ARHGEF2Rho/Rac guanine nucleotide exchange factor 2 | Ofta (30–79 %) | I 1 tillstånd |
| ARID1BAT-rich interaction domain 1B | Ofta (30–79 %) | I 2 tillstånd |
| ARID2AT-rich interaction domain 2 | Ofta (30–79 %) | I 1 tillstånd |
| ARL6ARF like GTPase 6 | Ofta (30–79 %) | I 1 tillstånd |
| ARMC9armadillo repeat containing 9 | Ofta (30–79 %) | I 2 tillstånd |
| ARVCFARVCF delta catenin family member | Ofta (30–79 %) | I 1 tillstånd |
| ASXL2ASXL transcriptional regulator 2 | Ofta (30–79 %) | I 1 tillstånd |
| AUTS2activator of transcription and developmental regulator AUTS2 | Ofta (30–79 %) | I 1 tillstånd |
| BBS1Bardet-Biedl syndrome 1 | Ofta (30–79 %) | I 1 tillstånd |
| BCORBCL6 corepressor | Ofta (30–79 %) | I 3 tillstånd |
| BCS1LBCS1 ubiquinol-cytochrome c reductase complex chaperone | Ofta (30–79 %) | I 1 tillstånd |
| BDNFbrain derived neurotrophic factor | Ofta (30–79 %) | I 1 tillstånd |
| BIN1bridging integrator 1 | Ofta (30–79 %) | I 2 tillstånd |
| BPTFbromodomain PHD finger transcription factor | Ofta (30–79 %) | I 1 tillstånd |
| BRD4bromodomain containing 4 | Ofta (30–79 %) | I 1 tillstånd |
| C1QBPcomplement C1q binding protein | Ofta (30–79 %) | I 1 tillstånd |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Ofta (30–79 %) | I 2 tillstånd |
| CC2D2Acoiled-coil and C2 domain containing 2A | Ofta (30–79 %) | I 2 tillstånd |
| CCDC28Bcoiled-coil domain containing 28B | Ofta (30–79 %) | I 1 tillstånd |
| CEP290centrosomal protein 290 | Ofta (30–79 %) | I 2 tillstånd |
| CHD7chromodomain helicase DNA binding protein 7 | Ofta (30–79 %) | I 3 tillstånd |
| CNTNAP1contactin associated protein 1 | Ofta (30–79 %) | I 1 tillstånd |
| COA8cytochrome c oxidase assembly factor 8 | Ofta (30–79 %) | I 1 tillstånd |
| COL1A2collagen type I alpha 2 chain | Ofta (30–79 %) | I 1 tillstånd |
| COL9A3collagen type IX alpha 3 chain | Ofta (30–79 %) | I 1 tillstånd |
| COLQcollagen like tail subunit of asymmetric acetylcholinesterase | Ofta (30–79 %) | I 2 tillstånd |
| COMTcatechol-O-methyltransferase | Ofta (30–79 %) | I 1 tillstånd |
| COQ8Acoenzyme Q8A | Ofta (30–79 %) | I 1 tillstånd |
| CPLX1complexin 1 | Ofta (30–79 %) | I 2 tillstånd |
| CREBBPCREB binding lysine acetyltransferase | Ofta (30–79 %) | I 4 tillstånd |
| CTBP1C-terminal binding protein 1 | Ofta (30–79 %) | I 2 tillstånd |
| CYC1cytochrome c1 | Ofta (30–79 %) | I 1 tillstånd |
| DBHdopamine beta-hydroxylase | Ofta (30–79 %) | I 1 tillstånd |
| DDCdopa decarboxylase | Ofta (30–79 %) | I 2 tillstånd |
| DGUOKdeoxyguanosine kinase | Ofta (30–79 %) | I 1 tillstånd |
| DLATdihydrolipoamide S-acetyltransferase | Ofta (30–79 %) | I 1 tillstånd |
| DNA2DNA replication helicase/nuclease 2 | Ofta (30–79 %) | I 1 tillstånd |
| DOK7docking protein 7 | Ofta (30–79 %) | I 1 tillstånd |
| DPF2double PHD fingers 2 | Ofta (30–79 %) | I 1 tillstånd |
| ECEL1endothelin converting enzyme like 1 | Ofta (30–79 %) | I 1 tillstånd |
| EFEMP1EGF-like fibulin extracellular matrix protein 1 | Ofta (30–79 %) | I 1 tillstånd |
| EP300EP300 lysine acetyltransferase | Ofta (30–79 %) | I 2 tillstånd |
| ERBB3erb-b2 receptor tyrosine kinase 3 | Ofta (30–79 %) | I 1 tillstånd |
| EXOC8exocyst complex component 8 | Ofta (30–79 %) | I 1 tillstånd |
| FAR1fatty acyl-CoA reductase 1 | Ofta (30–79 %) | I 2 tillstånd |
| FBN1fibrillin 1 | Ofta (30–79 %) | I 1 tillstånd |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Ofta (30–79 %) | I 2 tillstånd |
| FGFR3fibroblast growth factor receptor 3 | Ofta (30–79 %) | I 5 tillstånd |
| FGFRL1fibroblast growth factor receptor like 1 | Ofta (30–79 %) | I 1 tillstånd |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Ofta (30–79 %) | I 1 tillstånd |
| FOXC2forkhead box C2 | Ofta (30–79 %) | I 2 tillstånd |
| FOXP1forkhead box P1 | Ofta (30–79 %) | I 1 tillstånd |
| GFERgrowth factor, augmenter of liver regeneration | Ofta (30–79 %) | I 1 tillstånd |
| GLI3GLI family zinc finger 3 | Ofta (30–79 %) | I 1 tillstånd |
| GMPPBGDP-mannose pyrophosphorylase B | Ofta (30–79 %) | I 2 tillstånd |
| GP1BBglycoprotein Ib platelet subunit beta | Ofta (30–79 %) | I 1 tillstånd |
| GPC4glypican 4 | Ofta (30–79 %) | I 1 tillstånd |
| GPRASP2G protein-coupled receptor associated sorting protein 2 | Ofta (30–79 %) | I 1 tillstånd |
| GRM1glutamate metabotropic receptor 1 | Ofta (30–79 %) | I 2 tillstånd |
| GTPBP2GTP binding protein 2 | Ofta (30–79 %) | I 1 tillstånd |
| H4C3H4 clustered histone 3 | Ofta (30–79 %) | I 1 tillstånd |
| HDAC8histone deacetylase 8 | Ofta (30–79 %) | I 2 tillstånd |
| HIRAhistone cell cycle regulator | Ofta (30–79 %) | I 1 tillstånd |
| HPGD15-hydroxyprostaglandin dehydrogenase | Ofta (30–79 %) | I 2 tillstånd |
| HSPG2heparan sulfate proteoglycan 2 | Ofta (30–79 %) | I 2 tillstånd |
| IPO8importin 8 | Ofta (30–79 %) | I 1 tillstånd |
| JMJD1Cjumonji domain containing 1C | Ofta (30–79 %) | I 1 tillstånd |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Ofta (30–79 %) | I 1 tillstånd |
| KAT6Alysine acetyltransferase 6A | Ofta (30–79 %) | I 2 tillstånd |
| KDM1Alysine demethylase 1A | Ofta (30–79 %) | I 1 tillstånd |
| KDM5Blysine demethylase 5B | Ofta (30–79 %) | I 1 tillstånd |
| KDM6Alysine demethylase 6A | Ofta (30–79 %) | I 2 tillstånd |
| KIFBPkinesin family binding protein | Ofta (30–79 %) | I 2 tillstånd |
| KMT2Dlysine methyltransferase 2D | Ofta (30–79 %) | I 2 tillstånd |
| LAMB2laminin subunit beta 2 | Ofta (30–79 %) | I 1 tillstånd |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Ofta (30–79 %) | I 2 tillstånd |
| LIG3DNA ligase 3 | Ofta (30–79 %) | I 1 tillstånd |
| MAP2K1mitogen-activated protein kinase kinase 1 | Ofta (30–79 %) | I 3 tillstånd |
| MAU2MAU2 sister chromatid cohesion factor | Ofta (30–79 %) | I 2 tillstånd |
| MED25mediator complex subunit 25 | Ofta (30–79 %) | I 2 tillstånd |
| MGME1mitochondrial genome maintenance exonuclease 1 | Ofta (30–79 %) | I 2 tillstånd |
| MID1midline 1 | Ofta (30–79 %) | I 1 tillstånd |
| MINPP1multiple inositol-polyphosphate phosphatase 1 | Ofta (30–79 %) | I 1 tillstånd |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Ofta (30–79 %) | I 2 tillstånd |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Ofta (30–79 %) | I 2 tillstånd |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Ofta (30–79 %) | I 1 tillstånd |
| MT-TNmitochondrially encoded tRNA-Asn (AAU/C) | Ofta (30–79 %) | I 2 tillstånd |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Ofta (30–79 %) | I 2 tillstånd |
| MTRFRmitochondrial translation release factor in rescue | Ofta (30–79 %) | I 2 tillstånd |
| MTSS2MTSS I-BAR domain containing 2 | Ofta (30–79 %) | I 1 tillstånd |
| MYF6myogenic factor 6 | Ofta (30–79 %) | I 1 tillstånd |
| MYH3myosin heavy chain 3 | Ofta (30–79 %) | I 5 tillstånd |
| NALCNsodium leak channel, non-selective | Ofta (30–79 %) | I 1 tillstånd |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Ofta (30–79 %) | I 1 tillstånd |
| NELFAnegative elongation factor complex member A | Ofta (30–79 %) | I 1 tillstånd |
| NEUROG1neurogenin 1 | Ofta (30–79 %) | I 1 tillstånd |
| NGLY1N-glycanase 1 | Ofta (30–79 %) | I 1 tillstånd |
| NIPBLNIPBL cohesin loading factor | Ofta (30–79 %) | I 2 tillstånd |
| NOGnoggin | Ofta (30–79 %) | I 1 tillstånd |
| NSD2nuclear receptor binding SET domain protein 2 | Ofta (30–79 %) | I 2 tillstånd |
| ODC1ornithine decarboxylase 1 | Ofta (30–79 %) | I 1 tillstånd |
| PAX6paired box 6 | Ofta (30–79 %) | I 3 tillstånd |
| PDGFRBplatelet derived growth factor receptor beta | Ofta (30–79 %) | I 1 tillstånd |
| PEX1peroxisomal biogenesis factor 1 | Ofta (30–79 %) | I 1 tillstånd |
| PEX10peroxisomal biogenesis factor 10 | Ofta (30–79 %) | I 1 tillstånd |
| PEX11Bperoxisomal biogenesis factor 11 beta | Ofta (30–79 %) | I 1 tillstånd |
| PEX12peroxisomal biogenesis factor 12 | Ofta (30–79 %) | I 1 tillstånd |
| PEX13peroxisomal biogenesis factor 13 | Ofta (30–79 %) | I 1 tillstånd |
| PEX14peroxisomal biogenesis factor 14 | Ofta (30–79 %) | I 1 tillstånd |
| PEX16peroxisomal biogenesis factor 16 | Ofta (30–79 %) | I 1 tillstånd |
| PEX19peroxisomal biogenesis factor 19 | Ofta (30–79 %) | I 1 tillstånd |
| PEX2peroxisomal biogenesis factor 2 | Ofta (30–79 %) | I 1 tillstånd |
| PEX26peroxisomal biogenesis factor 26 | Ofta (30–79 %) | I 1 tillstånd |
| PEX3peroxisomal biogenesis factor 3 | Ofta (30–79 %) | I 1 tillstånd |
| PEX5peroxisomal biogenesis factor 5 | Ofta (30–79 %) | I 1 tillstånd |
| PEX6peroxisomal biogenesis factor 6 | Ofta (30–79 %) | I 1 tillstånd |
| PEX7peroxisomal biogenesis factor 7 | Ofta (30–79 %) | I 2 tillstånd |
| PHF6PHD finger protein 6 | Ofta (30–79 %) | I 2 tillstånd |
| PHYHphytanoyl-CoA 2-hydroxylase | Ofta (30–79 %) | I 2 tillstånd |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Ofta (30–79 %) | I 1 tillstånd |
| PLECplectin | Ofta (30–79 %) | I 1 tillstånd |
| POGZpogo transposable element derived with ZNF domain | Ofta (30–79 %) | I 1 tillstånd |
| PRR12proline rich 12 | Ofta (30–79 %) | I 1 tillstånd |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Ofta (30–79 %) | I 1 tillstånd |
| PUM1pumilio RNA binding family member 1 | Ofta (30–79 %) | I 1 tillstånd |
| PURApurine rich element binding protein A | Ofta (30–79 %) | I 1 tillstånd |
| PYROXD1pyridine nucleotide-disulphide oxidoreductase domain 1 | Ofta (30–79 %) | I 1 tillstånd |
| QRICH1glutamine rich 1 | Ofta (30–79 %) | I 1 tillstånd |
| RAD21RAD21 cohesin complex component | Ofta (30–79 %) | I 1 tillstånd |
| RB1RB transcriptional corepressor 1 | Ofta (30–79 %) | I 1 tillstånd |
| RNASEH1ribonuclease H1 | Ofta (30–79 %) | I 1 tillstånd |
| RPGRIP1LRPGRIP1 like | Ofta (30–79 %) | I 4 tillstånd |
| RREB1ras responsive element binding protein 1 | Ofta (30–79 %) | I 1 tillstånd |
| SCO2synthesis of cytochrome C oxidase 2 | Ofta (30–79 %) | I 3 tillstånd |
| SEC24CSEC24 homolog C, COPII component | Ofta (30–79 %) | I 1 tillstånd |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Ofta (30–79 %) | I 1 tillstånd |
| SEMA3Esemaphorin 3E | Ofta (30–79 %) | I 1 tillstånd |
| SEPHS1selenophosphate synthetase 1 | Ofta (30–79 %) | I 1 tillstånd |
| SETBP1SET binding protein 1 | Ofta (30–79 %) | I 1 tillstånd |
| SF3B4splicing factor 3b subunit 4 | Ofta (30–79 %) | I 1 tillstånd |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Ofta (30–79 %) | I 1 tillstånd |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Ofta (30–79 %) | I 1 tillstånd |
| SKISKI proto-oncogene | Ofta (30–79 %) | I 2 tillstånd |
| SLC12A6solute carrier family 12 member 6 | Ofta (30–79 %) | I 1 tillstånd |
| SLC19A3solute carrier family 19 member 3 | Ofta (30–79 %) | I 1 tillstånd |
| SLC25A1solute carrier family 25 member 1 | Ofta (30–79 %) | I 1 tillstånd |
| SLCO2A1solute carrier organic anion transporter family member 2A1 | Ofta (30–79 %) | I 2 tillstånd |
| SMAD4SMAD family member 4 | Ofta (30–79 %) | I 1 tillstånd |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Ofta (30–79 %) | I 2 tillstånd |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Ofta (30–79 %) | I 2 tillstånd |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Ofta (30–79 %) | I 2 tillstånd |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Ofta (30–79 %) | I 1 tillstånd |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Ofta (30–79 %) | I 2 tillstånd |
| SMC1Astructural maintenance of chromosomes 1A | Ofta (30–79 %) | I 2 tillstånd |
| SMC3structural maintenance of chromosomes 3 | Ofta (30–79 %) | I 2 tillstånd |
| SOSTsclerostin | Ofta (30–79 %) | I 1 tillstånd |
| SOX11SRY-box transcription factor 11 | Ofta (30–79 %) | I 2 tillstånd |
| SOX4SRY-box transcription factor 4 | Ofta (30–79 %) | I 1 tillstånd |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Ofta (30–79 %) | I 1 tillstånd |
| SPRsepiapterin reductase | Ofta (30–79 %) | I 1 tillstånd |
| TBX1T-box transcription factor 1 | Ofta (30–79 %) | I 2 tillstånd |
| TEFMtranscription elongation factor, mitochondrial | Ofta (30–79 %) | I 1 tillstånd |
| TFE3transcription factor binding to IGHM enhancer 3 | Ofta (30–79 %) | I 1 tillstånd |
| TGFBR1transforming growth factor beta receptor 1 | Ofta (30–79 %) | I 1 tillstånd |
| THtyrosine hydroxylase | Ofta (30–79 %) | I 2 tillstånd |
| TMEM138transmembrane protein 138 | Ofta (30–79 %) | I 1 tillstånd |
| TMEM216transmembrane protein 216 | Ofta (30–79 %) | I 1 tillstånd |
| TMEM231transmembrane protein 231 | Ofta (30–79 %) | I 1 tillstånd |
| TMEM237transmembrane protein 237 | Ofta (30–79 %) | I 4 tillstånd |
| TMLHEtrimethyllysine hydroxylase, epsilon | Ofta (30–79 %) | I 1 tillstånd |
| TOR1Atorsin family 1 member A | Ofta (30–79 %) | I 1 tillstånd |
| TRAF7TNF receptor associated factor 7 | Ofta (30–79 %) | I 1 tillstånd |
| TSPOAP1TSPO associated protein 1 | Ofta (30–79 %) | I 1 tillstånd |
| TUBA4Atubulin alpha 4a | Ofta (30–79 %) | I 1 tillstånd |
| TUBB6tubulin beta 6 class V | Ofta (30–79 %) | I 1 tillstånd |
| TWIST1twist family bHLH transcription factor 1 | Ofta (30–79 %) | I 2 tillstånd |
| UBE3Bubiquitin protein ligase E3B | Ofta (30–79 %) | I 1 tillstånd |
| UBR7ubiquitin protein ligase E3 component n-recognin 7 | Ofta (30–79 %) | I 1 tillstånd |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Ofta (30–79 %) | I 1 tillstånd |
| UNC13Aunc-13 homolog A | Ofta (30–79 %) | I 1 tillstånd |
| WDR83OSWD repeat domain 83 opposite strand | Ofta (30–79 %) | I 1 tillstånd |
| WT1WT1 transcription factor | Ofta (30–79 %) | I 2 tillstånd |
| ZBTB20zinc finger and BTB domain containing 20 | Ofta (30–79 %) | I 1 tillstånd |
| ZIC1Zic family zinc finger 1 | Ofta (30–79 %) | I 2 tillstånd |
| ZNF423zinc finger protein 423 | Ofta (30–79 %) | I 1 tillstånd |
| ZRSR2zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 | Ofta (30–79 %) | I 1 tillstånd |
| ZSWIM6zinc finger SWIM-type containing 6 | Ofta (30–79 %) | I 2 tillstånd |
| AARS1alanyl-tRNA synthetase 1 | Ibland (5–29 %) | I 1 tillstånd |
| ACTA1actin alpha 1, skeletal muscle | Ibland (5–29 %) | I 3 tillstånd |
| ACTL6Bactin like 6B | Ibland (5–29 %) | I 1 tillstånd |
| ADAMTS15ADAM metallopeptidase with thrombospondin type 1 motif 15 | Ibland (5–29 %) | I 1 tillstånd |
| ADARadenosine deaminase RNA specific | Ibland (5–29 %) | I 1 tillstånd |
| ADNPactivity dependent neuroprotector homeobox | Ibland (5–29 %) | I 1 tillstånd |
| ADPRSADP-ribosylserine hydrolase | Ibland (5–29 %) | I 1 tillstånd |
| AFF4ALF transcription elongation factor 4 | Ibland (5–29 %) | I 1 tillstånd |
| AHI1Abelson helper integration site 1 | Ibland (5–29 %) | I 3 tillstånd |
| AIPAHR interacting HSP90 co-chaperone | Ibland (5–29 %) | I 1 tillstånd |
| AKT1AKT serine/threonine kinase 1 | Ibland (5–29 %) | I 2 tillstånd |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Ibland (5–29 %) | I 1 tillstånd |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Ibland (5–29 %) | I 2 tillstånd |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Ibland (5–29 %) | I 1 tillstånd |
| ANOS1anosmin 1 | Ibland (5–29 %) | I 1 tillstånd |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Ibland (5–29 %) | I 1 tillstånd |
| APCAPC regulator of Wnt signaling pathway | Ibland (5–29 %) | I 1 tillstånd |
| ARL13BARF like GTPase 13B | Ibland (5–29 %) | I 2 tillstånd |
| ARL3ARF like GTPase 3 | Ibland (5–29 %) | I 2 tillstånd |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Ibland (5–29 %) | I 1 tillstånd |
| ATG7autophagy related 7 | Ibland (5–29 %) | I 1 tillstånd |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Ibland (5–29 %) | I 1 tillstånd |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Ibland (5–29 %) | I 1 tillstånd |
| ATP5F1AATP synthase F1 subunit alpha | Ibland (5–29 %) | I 1 tillstånd |
| ATP5F1DATP synthase F1 subunit delta | Ibland (5–29 %) | I 1 tillstånd |
| ATP5F1EATP synthase F1 subunit epsilon | Ibland (5–29 %) | I 1 tillstånd |
| ATP5MKATP synthase membrane subunit k | Ibland (5–29 %) | I 1 tillstånd |
| ATP5POATP synthase peripheral stalk subunit OSCP | Ibland (5–29 %) | I 1 tillstånd |
| ATP6V1AATPase H+ transporting V1 subunit A | Ibland (5–29 %) | I 1 tillstånd |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Ibland (5–29 %) | I 1 tillstånd |
| ATXN7L3ataxin 7 like 3 | Ibland (5–29 %) | I 1 tillstånd |
| B9D1B9 domain containing 1 | Ibland (5–29 %) | I 1 tillstånd |
| B9D2B9 domain containing 2 | Ibland (5–29 %) | I 2 tillstånd |
| BAP1BRCA1 associated deubiquitinase 1 | Ibland (5–29 %) | I 1 tillstånd |
| BCAS3BCAS3 microtubule associated cell migration factor | Ibland (5–29 %) | I 1 tillstånd |
| BRCA1BRCA1 DNA repair associated | Ibland (5–29 %) | I 1 tillstånd |
| BRCA2BRCA2 DNA repair associated | Ibland (5–29 %) | I 1 tillstånd |
| BRIP1BRCA1 interacting DNA helicase 1 | Ibland (5–29 %) | I 1 tillstånd |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Ibland (5–29 %) | I 1 tillstånd |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Ibland (5–29 %) | I 1 tillstånd |
| CAPRIN1cell cycle associated protein 1 | Ibland (5–29 %) | I 1 tillstånd |
| CBY1chibby 1, beta catenin antagonist | Ibland (5–29 %) | I 1 tillstånd |
| CCDC141coiled-coil domain containing 141 | Ibland (5–29 %) | I 1 tillstånd |
| CDC42BPBCDC42 binding protein kinase beta | Ibland (5–29 %) | I 1 tillstånd |
| CDH11cadherin 11 | Ibland (5–29 %) | I 1 tillstånd |
| CDH23cadherin related 23 | Ibland (5–29 %) | I 2 tillstånd |
| CDK13cyclin dependent kinase 13 | Ibland (5–29 %) | I 1 tillstånd |
| CDK19cyclin dependent kinase 19 | Ibland (5–29 %) | I 1 tillstånd |
| CDK8cyclin dependent kinase 8 | Ibland (5–29 %) | I 1 tillstånd |
| CELF2CUGBP Elav-like family member 2 | Ibland (5–29 %) | I 1 tillstånd |
| CEP104centrosomal protein 104 | Ibland (5–29 %) | I 1 tillstånd |
| CEP120centrosomal protein 120 | Ibland (5–29 %) | I 2 tillstånd |
| CEP41centrosomal protein 41 | Ibland (5–29 %) | I 2 tillstånd |
| CFL2cofilin 2 | Ibland (5–29 %) | I 1 tillstånd |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Ibland (5–29 %) | I 2 tillstånd |
| CHN1chimerin 1 | Ibland (5–29 %) | I 1 tillstånd |
| CLTCclathrin heavy chain | Ibland (5–29 %) | I 2 tillstånd |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Ibland (5–29 %) | I 1 tillstånd |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Ibland (5–29 %) | I 1 tillstånd |
| CSNK2A1casein kinase 2 alpha 1 | Ibland (5–29 %) | I 1 tillstånd |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Ibland (5–29 %) | I 1 tillstånd |
| DALRD3DALR anticodon binding domain containing 3 | Ibland (5–29 %) | I 1 tillstånd |
| DCCDCC netrin 1 receptor | Ibland (5–29 %) | I 1 tillstånd |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Ibland (5–29 %) | I 1 tillstånd |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Ibland (5–29 %) | I 1 tillstånd |
| DHX37DEAH-box helicase 37 | Ibland (5–29 %) | I 1 tillstånd |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Ibland (5–29 %) | I 1 tillstånd |
| DNM1dynamin 1 | Ibland (5–29 %) | I 1 tillstånd |
| DNM1Ldynamin 1L | Ibland (5–29 %) | I 1 tillstånd |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Ibland (5–29 %) | I 2 tillstånd |
| DUSP6dual specificity phosphatase 6 | Ibland (5–29 %) | I 1 tillstånd |
| DVL1dishevelled segment polarity protein 1 | Ibland (5–29 %) | I 1 tillstånd |
| DVL3dishevelled segment polarity protein 3 | Ibland (5–29 %) | I 1 tillstånd |
| EDEM3ER degradation enhancing alpha-mannosidase like protein 3 | Ibland (5–29 %) | I 1 tillstånd |
| EDN1endothelin 1 | Ibland (5–29 %) | I 1 tillstånd |
| EDNRBendothelin receptor type B | Ibland (5–29 %) | I 1 tillstånd |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Ibland (5–29 %) | I 1 tillstånd |
| ELNelastin | Ibland (5–29 %) | I 1 tillstånd |
| EMDemerin | Ibland (5–29 %) | I 1 tillstånd |
| EMX2empty spiracles homeobox 2 | Ibland (5–29 %) | I 1 tillstånd |
| EPG5ectopic P-granules 5 autophagy tethering factor | Ibland (5–29 %) | I 1 tillstånd |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Ibland (5–29 %) | I 1 tillstånd |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Ibland (5–29 %) | I 2 tillstånd |
| FAAP100FA core complex associated protein 100 | Ibland (5–29 %) | I 1 tillstånd |
| FANCAFA complementation group A | Ibland (5–29 %) | I 1 tillstånd |
| FANCBFA complementation group B | Ibland (5–29 %) | I 1 tillstånd |
| FANCCFA complementation group C | Ibland (5–29 %) | I 1 tillstånd |
| FANCD2FA complementation group D2 | Ibland (5–29 %) | I 1 tillstånd |
| FANCEFA complementation group E | Ibland (5–29 %) | I 1 tillstånd |
| FANCFFA complementation group F | Ibland (5–29 %) | I 1 tillstånd |
| FANCGFA complementation group G | Ibland (5–29 %) | I 1 tillstånd |
| FANCIFA complementation group I | Ibland (5–29 %) | I 1 tillstånd |
| FANCLFA complementation group L | Ibland (5–29 %) | I 1 tillstånd |
| FANCMFA complementation group M | Ibland (5–29 %) | I 1 tillstånd |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Ibland (5–29 %) | I 1 tillstånd |
| FBLN5fibulin 5 | Ibland (5–29 %) | I 1 tillstånd |
| FBXL3F-box and leucine rich repeat protein 3 | Ibland (5–29 %) | I 1 tillstånd |
| FBXL4F-box and leucine rich repeat protein 4 | Ibland (5–29 %) | I 1 tillstånd |
| FBXO28F-box protein 28 | Ibland (5–29 %) | I 1 tillstånd |
| FDXRferredoxin reductase | Ibland (5–29 %) | I 1 tillstånd |
| FEZF1FEZ family zinc finger 1 | Ibland (5–29 %) | I 1 tillstånd |
| FGF10fibroblast growth factor 10 | Ibland (5–29 %) | I 1 tillstånd |
| FGF12fibroblast growth factor 12 | Ibland (5–29 %) | I 1 tillstånd |
| FGF17fibroblast growth factor 17 | Ibland (5–29 %) | I 1 tillstånd |
| FGF8fibroblast growth factor 8 | Ibland (5–29 %) | I 1 tillstånd |
| FHL1four and a half LIM domains 1 | Ibland (5–29 %) | I 1 tillstånd |
| FLRT3fibronectin leucine rich transmembrane protein 3 | Ibland (5–29 %) | I 1 tillstånd |
| FOXC1forkhead box C1 | Ibland (5–29 %) | I 1 tillstånd |
| FOXG1forkhead box G1 | Ibland (5–29 %) | I 1 tillstånd |
| FZD2frizzled class receptor 2 | Ibland (5–29 %) | I 1 tillstånd |
| FZR1fizzy and cell division cycle 20 related 1 | Ibland (5–29 %) | I 1 tillstånd |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Ibland (5–29 %) | I 1 tillstånd |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Ibland (5–29 %) | I 1 tillstånd |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Ibland (5–29 %) | I 1 tillstånd |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Ibland (5–29 %) | I 1 tillstånd |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Ibland (5–29 %) | I 1 tillstånd |
| GLI2GLI family zinc finger 2 | Ibland (5–29 %) | I 1 tillstånd |
| GMPPAGDP-mannose pyrophosphorylase A | Ibland (5–29 %) | I 1 tillstånd |
| GNAI3G protein subunit alpha i3 | Ibland (5–29 %) | I 1 tillstånd |
| GNPNAT1glucosamine-phosphate N-acetyltransferase 1 | Ibland (5–29 %) | I 1 tillstånd |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Ibland (5–29 %) | I 1 tillstånd |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Ibland (5–29 %) | I 1 tillstånd |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Ibland (5–29 %) | I 1 tillstånd |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Ibland (5–29 %) | I 1 tillstånd |
| HESX1HESX homeobox 1 | Ibland (5–29 %) | I 1 tillstånd |
| HLA-Bmajor histocompatibility complex, class I, B | Ibland (5–29 %) | I 1 tillstånd |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Ibland (5–29 %) | I 1 tillstånd |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Ibland (5–29 %) | I 3 tillstånd |
| HS6ST1heparan sulfate 6-O-sulfotransferase 1 | Ibland (5–29 %) | I 1 tillstånd |
| HYAL2hyaluronidase 2 | Ibland (5–29 %) | I 1 tillstånd |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Ibland (5–29 %) | I 1 tillstånd |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Ibland (5–29 %) | I 2 tillstånd |
| IFT74intraflagellar transport 74 | Ibland (5–29 %) | I 1 tillstånd |
| IL17RDinterleukin 17 receptor D | Ibland (5–29 %) | I 1 tillstånd |
| JAG2jagged canonical Notch ligand 2 | Ibland (5–29 %) | I 1 tillstånd |
| JARID2jumonji and AT-rich interaction domain containing 2 | Ibland (5–29 %) | I 1 tillstånd |
| KATNIPkatanin interacting protein | Ibland (5–29 %) | I 2 tillstånd |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Ibland (5–29 %) | I 1 tillstånd |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Ibland (5–29 %) | I 1 tillstånd |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Ibland (5–29 %) | I 1 tillstånd |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Ibland (5–29 %) | I 1 tillstånd |
| KCNN2potassium calcium-activated channel subfamily N member 2 | Ibland (5–29 %) | I 1 tillstånd |
| KIAA0586KIAA0586 | Ibland (5–29 %) | I 1 tillstånd |
| KIAA0753KIAA0753 | Ibland (5–29 %) | I 1 tillstånd |
| KIF11kinesin family member 11 | Ibland (5–29 %) | I 1 tillstånd |
| KITLGKIT ligand | Ibland (5–29 %) | I 1 tillstånd |
| KLHL40kelch like family member 40 | Ibland (5–29 %) | I 1 tillstånd |
| KLHL41kelch like family member 41 | Ibland (5–29 %) | I 3 tillstånd |
| KMT2Alysine methyltransferase 2A | Ibland (5–29 %) | I 1 tillstånd |
| KMT2Blysine methyltransferase 2B | Ibland (5–29 %) | I 1 tillstånd |
| LMOD3leiomodin 3 | Ibland (5–29 %) | I 2 tillstånd |
| LSM11LSM11, U7 small nuclear RNA associated | Ibland (5–29 %) | I 1 tillstånd |
| LYRM7LYR motif containing 7 | Ibland (5–29 %) | I 1 tillstånd |
| MAD2L2mitotic arrest deficient 2 like 2 | Ibland (5–29 %) | I 1 tillstånd |
| MAFBMAF bZIP transcription factor B | Ibland (5–29 %) | I 1 tillstånd |
| MAPRE2microtubule associated protein RP/EB family member 2 | Ibland (5–29 %) | I 1 tillstånd |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Ibland (5–29 %) | I 1 tillstånd |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Ibland (5–29 %) | I 2 tillstånd |
| MED13Lmediator complex subunit 13L | Ibland (5–29 %) | I 1 tillstånd |
| MEN1menin 1 | Ibland (5–29 %) | I 1 tillstånd |
| MICU1mitochondrial calcium uptake 1 | Ibland (5–29 %) | I 2 tillstånd |
| MITFmelanocyte inducing transcription factor | Ibland (5–29 %) | I 1 tillstånd |
| MRPS34mitochondrial ribosomal protein S34 | Ibland (5–29 %) | I 1 tillstånd |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Ibland (5–29 %) | I 1 tillstånd |
| MYH8myosin heavy chain 8 | Ibland (5–29 %) | I 2 tillstånd |
| MYL2myosin light chain 2 | Ibland (5–29 %) | I 1 tillstånd |
| NAXENAD(P)HX epimerase | Ibland (5–29 %) | I 1 tillstånd |
| NDNFneuron derived neurotrophic factor | Ibland (5–29 %) | I 1 tillstånd |
| NEBnebulin | Ibland (5–29 %) | I 3 tillstånd |
| NECAP1NECAP endocytosis associated 1 | Ibland (5–29 %) | I 1 tillstånd |
| NEFLneurofilament light chain | Ibland (5–29 %) | I 1 tillstånd |
| NFU1NFU1 iron-sulfur cluster scaffold | Ibland (5–29 %) | I 1 tillstånd |
| NOP56NOP56 ribonucleoprotein | Ibland (5–29 %) | I 2 tillstånd |
| NPHP1nephrocystin 1 | Ibland (5–29 %) | I 1 tillstånd |
| NPTX1neuronal pentraxin 1 | Ibland (5–29 %) | I 1 tillstånd |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Ibland (5–29 %) | I 1 tillstånd |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Ibland (5–29 %) | I 1 tillstånd |
| NXNnucleoredoxin | Ibland (5–29 %) | I 1 tillstånd |
| OFD1OFD1 centriole and centriolar satellite protein | Ibland (5–29 %) | I 1 tillstånd |
| OPA1OPA1 mitochondrial dynamin like GTPase | Ibland (5–29 %) | I 2 tillstånd |
| P4HA2prolyl 4-hydroxylase subunit alpha 2 | Ibland (5–29 %) | I 1 tillstånd |
| PACS2phosphofurin acidic cluster sorting protein 2 | Ibland (5–29 %) | I 1 tillstånd |
| PALB2partner and localizer of BRCA2 | Ibland (5–29 %) | I 1 tillstånd |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Ibland (5–29 %) | I 1 tillstånd |
| PAX3paired box 3 | Ibland (5–29 %) | I 1 tillstånd |
| PDE4Dphosphodiesterase 4D | Ibland (5–29 %) | I 1 tillstånd |
| PDE6Dphosphodiesterase 6D | Ibland (5–29 %) | I 1 tillstånd |
| PHIPPHIP subunit of CUL4-Ring ligase complex | Ibland (5–29 %) | I 1 tillstånd |
| PIBF1progesterone immunomodulatory binding factor 1 | Ibland (5–29 %) | I 1 tillstånd |
| PLCB4phospholipase C beta 4 | Ibland (5–29 %) | I 2 tillstånd |
| PLXNA1plexin A1 | Ibland (5–29 %) | I 1 tillstånd |
| POLR1ARNA polymerase I subunit A | Ibland (5–29 %) | I 1 tillstånd |
| PPIBpeptidylprolyl isomerase B | Ibland (5–29 %) | I 1 tillstånd |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Ibland (5–29 %) | I 1 tillstånd |
| PPP1R12Aprotein phosphatase 1 regulatory subunit 12A | Ibland (5–29 %) | I 1 tillstånd |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Ibland (5–29 %) | I 1 tillstånd |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Ibland (5–29 %) | I 1 tillstånd |
| PRDX3peroxiredoxin 3 | Ibland (5–29 %) | I 1 tillstånd |
| PROK2prokineticin 2 | Ibland (5–29 %) | I 1 tillstånd |
| PROKR2prokineticin receptor 2 | Ibland (5–29 %) | I 1 tillstånd |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Ibland (5–29 %) | I 1 tillstånd |
| PTS6-pyruvoyltetrahydropterin synthase | Ibland (5–29 %) | I 1 tillstånd |
| RAD51RAD51 recombinase | Ibland (5–29 %) | I 1 tillstånd |
| RAD51CRAD51 paralog C | Ibland (5–29 %) | I 1 tillstånd |
| RBCK1RANBP2-type and C3HC4-type zinc finger containing 1 | Ibland (5–29 %) | I 1 tillstånd |
| RBM8ARNA binding motif protein 8A | Ibland (5–29 %) | I 1 tillstånd |
| REREarginine-glutamic acid dipeptide repeats | Ibland (5–29 %) | I 1 tillstånd |
| RFWD3ring finger and WD repeat domain 3 | Ibland (5–29 %) | I 1 tillstånd |
| RNASEH2Aribonuclease H2 subunit A | Ibland (5–29 %) | I 1 tillstånd |
| RNASEH2Bribonuclease H2 subunit B | Ibland (5–29 %) | I 1 tillstånd |
| RNASEH2Cribonuclease H2 subunit C | Ibland (5–29 %) | I 1 tillstånd |
| RNU7-1RNA, U7 small nuclear 1 | Ibland (5–29 %) | I 1 tillstånd |
| ROBO1roundabout guidance receptor 1 | Ibland (5–29 %) | I 1 tillstånd |
| ROR2ROR family WNT receptor 2 | Ibland (5–29 %) | I 2 tillstånd |
| SALL4spalt like transcription factor 4 | Ibland (5–29 %) | I 2 tillstånd |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Ibland (5–29 %) | I 1 tillstånd |
| SBF2SET binding factor 2 | Ibland (5–29 %) | I 1 tillstånd |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Ibland (5–29 %) | I 1 tillstånd |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Ibland (5–29 %) | I 1 tillstånd |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Ibland (5–29 %) | I 1 tillstånd |
| SECISBP2SECIS binding protein 2 | Ibland (5–29 %) | I 1 tillstånd |
| SEMA3Asemaphorin 3A | Ibland (5–29 %) | I 1 tillstånd |
| SF3B2splicing factor 3b subunit 2 | Ibland (5–29 %) | I 1 tillstånd |
| SIAH1siah E3 ubiquitin protein ligase 1 | Ibland (5–29 %) | I 1 tillstånd |
| SLC13A5solute carrier family 13 member 5 | Ibland (5–29 %) | I 1 tillstånd |
| SLC1A2solute carrier family 1 member 2 | Ibland (5–29 %) | I 1 tillstånd |
| SLC38A3solute carrier family 38 member 3 | Ibland (5–29 %) | I 1 tillstånd |
| SLC6A8solute carrier family 6 member 8 | Ibland (5–29 %) | I 2 tillstånd |
| SLX4SLX4 structure-specific endonuclease subunit | Ibland (5–29 %) | I 1 tillstånd |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Ibland (5–29 %) | I 1 tillstånd |
| SNAI2snail family transcriptional repressor 2 | Ibland (5–29 %) | I 1 tillstånd |
| SOX10SRY-box transcription factor 10 | Ibland (5–29 %) | I 2 tillstånd |
| SPRY4sprouty RTK signaling antagonist 4 | Ibland (5–29 %) | I 1 tillstånd |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Ibland (5–29 %) | I 1 tillstånd |
| SUFUSUFU negative regulator of hedgehog signaling | Ibland (5–29 %) | I 1 tillstånd |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Ibland (5–29 %) | I 3 tillstånd |
| SYNE2spectrin repeat containing nuclear envelope protein 2 | Ibland (5–29 %) | I 1 tillstånd |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Ibland (5–29 %) | I 1 tillstånd |
| SYNJ1synaptojanin 1 | Ibland (5–29 %) | I 1 tillstånd |
| SZT2SZT2 subunit of KICSTOR complex | Ibland (5–29 %) | I 2 tillstånd |
| TACR3tachykinin receptor 3 | Ibland (5–29 %) | I 1 tillstånd |
| TBC1D20TBC1 domain family member 20 | Ibland (5–29 %) | I 1 tillstånd |
| TBC1D24TBC1 domain family member 24 | Ibland (5–29 %) | I 1 tillstånd |
| TBCKTBC1 domain containing kinase | Ibland (5–29 %) | I 1 tillstånd |
| TCTN1tectonic family member 1 | Ibland (5–29 %) | I 1 tillstånd |
| TCTN2tectonic family member 2 | Ibland (5–29 %) | I 1 tillstånd |
| TCTN3tectonic family member 3 | Ibland (5–29 %) | I 1 tillstånd |
| TET3tet methylcytosine dioxygenase 3 | Ibland (5–29 %) | I 1 tillstånd |
| TFAP2Atranscription factor AP-2 alpha | Ibland (5–29 %) | I 2 tillstånd |
| TGFB2transforming growth factor beta 2 | Ibland (5–29 %) | I 1 tillstånd |
| THAP11THAP domain containing 11 | Ibland (5–29 %) | I 1 tillstånd |
| TMCO1transmembrane and coiled-coil domains 1 | Ibland (5–29 %) | I 1 tillstånd |
| TMEM218transmembrane protein 218 | Ibland (5–29 %) | I 1 tillstånd |
| TMEM43transmembrane protein 43 | Ibland (5–29 %) | I 1 tillstånd |
| TNPO3transportin 3 | Ibland (5–29 %) | I 1 tillstånd |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Ibland (5–29 %) | I 2 tillstånd |
| TPM2tropomyosin 2 | Ibland (5–29 %) | I 3 tillstånd |
| TRAK1trafficking kinesin protein 1 | Ibland (5–29 %) | I 1 tillstånd |
| TREX1three prime repair exonuclease 1 | Ibland (5–29 %) | I 1 tillstånd |
| TRIM44TRIM family member 44 | Ibland (5–29 %) | I 1 tillstånd |
| TRIOtrio Rho guanine nucleotide exchange factor | Ibland (5–29 %) | I 1 tillstånd |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Ibland (5–29 %) | I 1 tillstånd |
| TTRtransthyretin | Ibland (5–29 %) | I 1 tillstånd |
| TYRtyrosinase | Ibland (5–29 %) | I 1 tillstånd |
| UBA5ubiquitin like modifier activating enzyme 5 | Ibland (5–29 %) | I 1 tillstånd |
| UBE2Tubiquitin conjugating enzyme E2 T | Ibland (5–29 %) | I 1 tillstånd |
| UFSP2UFM1 specific peptidase 2 | Ibland (5–29 %) | I 1 tillstånd |
| VAMP1vesicle associated membrane protein 1 | Ibland (5–29 %) | I 2 tillstånd |
| VMA22vacuolar ATPase assembly factor VMA22 | Ibland (5–29 %) | I 1 tillstånd |
| WDR11WD repeat domain 11 | Ibland (5–29 %) | I 1 tillstånd |
| WNT5AWnt family member 5A | Ibland (5–29 %) | I 1 tillstånd |
| XRCC2X-ray repair cross complementing 2 | Ibland (5–29 %) | I 1 tillstånd |
| YAP1Yes1 associated transcriptional regulator | Ibland (5–29 %) | I 1 tillstånd |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Ibland (5–29 %) | I 1 tillstånd |
| YY1YY1 transcription factor | Ibland (5–29 %) | I 2 tillstånd |
| ZC4H2zinc finger C4H2-type containing | Ibland (5–29 %) | I 3 tillstånd |
| ZEB2zinc finger E-box binding homeobox 2 | Ibland (5–29 %) | I 3 tillstånd |
| ZMYND11zinc finger MYND-type containing 11 | Ibland (5–29 %) | I 1 tillstånd |
| ZNF699zinc finger protein 699 | Ibland (5–29 %) | I 1 tillstånd |
| ADA2adenosine deaminase 2 | Sällan (1–4%) | I 1 tillstånd |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Sällan (1–4%) | I 1 tillstånd |
| CTCFCCCTC-binding factor | Sällan (1–4%) | I 1 tillstånd |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Sällan (1–4%) | I 1 tillstånd |
| FLNAfilamin A | Sällan (1–4%) | I 2 tillstånd |
| FUSFUS RNA binding protein | Sällan (1–4%) | I 1 tillstånd |
| GATA1GATA binding protein 1 | Sällan (1–4%) | I 1 tillstånd |
| GBA1glucosylceramidase beta 1 | Sällan (1–4%) | I 1 tillstånd |
| GJC2gap junction protein gamma 2 | Sällan (1–4%) | I 1 tillstånd |
| HEATR3HEAT repeat containing 3 | Sällan (1–4%) | I 1 tillstånd |
| HK1hexokinase 1 | Sällan (1–4%) | I 1 tillstånd |
| KBTBD13kelch repeat and BTB domain containing 13 | Sällan (1–4%) | I 1 tillstånd |
| MARK2microtubule affinity regulating kinase 2 | Sällan (1–4%) | I 1 tillstånd |
| MTTPmicrosomal triglyceride transfer protein | Sällan (1–4%) | I 1 tillstånd |
| MYPNmyopalladin | Sällan (1–4%) | I 1 tillstånd |
| RPL11ribosomal protein L11 | Sällan (1–4%) | I 1 tillstånd |
| RPL15ribosomal protein L15 | Sällan (1–4%) | I 1 tillstånd |
| RPL18ribosomal protein L18 | Sällan (1–4%) | I 1 tillstånd |
| RPL26ribosomal protein L26 | Sällan (1–4%) | I 1 tillstånd |
| RPL27ribosomal protein L27 | Sällan (1–4%) | I 1 tillstånd |
| RPL31ribosomal protein L31 | Sällan (1–4%) | I 1 tillstånd |
| RPL35ribosomal protein L35 | Sällan (1–4%) | I 1 tillstånd |
| RPL35Aribosomal protein L35a | Sällan (1–4%) | I 1 tillstånd |
| RPL5ribosomal protein L5 | Sällan (1–4%) | I 1 tillstånd |
| RPL8ribosomal protein L8 | Sällan (1–4%) | I 1 tillstånd |
| RPL9ribosomal protein L9 | Sällan (1–4%) | I 1 tillstånd |
| RPS10ribosomal protein S10 | Sällan (1–4%) | I 1 tillstånd |
| RPS15Aribosomal protein S15a | Sällan (1–4%) | I 1 tillstånd |
| RPS17ribosomal protein S17 | Sällan (1–4%) | I 1 tillstånd |
| RPS19ribosomal protein S19 | Sällan (1–4%) | I 1 tillstånd |
| RPS20ribosomal protein S20 | Sällan (1–4%) | I 1 tillstånd |
| RPS24ribosomal protein S24 | Sällan (1–4%) | I 1 tillstånd |
| RPS26ribosomal protein S26 | Sällan (1–4%) | I 1 tillstånd |
| RPS27ribosomal protein S27 | Sällan (1–4%) | I 1 tillstånd |
| RPS28ribosomal protein S28 | Sällan (1–4%) | I 1 tillstånd |
| RPS29ribosomal protein S29 | Sällan (1–4%) | I 1 tillstånd |
| RPS7ribosomal protein S7 | Sällan (1–4%) | I 1 tillstånd |
| SQSTM1sequestosome 1 | Sällan (1–4%) | I 1 tillstånd |
| TARDBPTAR DNA binding protein | Sällan (1–4%) | I 1 tillstånd |
| TBK1TANK binding kinase 1 | Sällan (1–4%) | I 1 tillstånd |
| TCF12transcription factor 12 | Sällan (1–4%) | I 1 tillstånd |
| TPM3tropomyosin 3 | Sällan (1–4%) | I 2 tillstånd |
| TSR2TSR2 ribosome maturation factor | Sällan (1–4%) | I 1 tillstånd |
| VCPvalosin containing protein | Sällan (1–4%) | I 1 tillstånd |
| ALDOAaldolase, fructose-bisphosphate A | Inte registrerat | I 1 tillstånd |
| ATRXATRX chromatin remodeler | Inte registrerat | I 1 tillstånd |
| ATXN3ataxin 3 | Inte registrerat | I 1 tillstånd |
| B3GLCTbeta 3-glucosyltransferase | Inte registrerat | I 1 tillstånd |
| CHATcholine O-acetyltransferase | Inte registrerat | I 1 tillstånd |
| CHD4chromodomain helicase DNA binding protein 4 | Inte registrerat | I 1 tillstånd |
| CHRNA1cholinergic receptor nicotinic alpha 1 subunit | Inte registrerat | I 2 tillstånd |
| COQ2coenzyme Q2, polyprenyltransferase | Inte registrerat | I 1 tillstånd |
| COX15cytochrome c oxidase assembly factor COX15 | Inte registrerat | I 1 tillstånd |
| COX6B1cytochrome c oxidase subunit 6B1 | Inte registrerat | I 1 tillstånd |
| DCHS1dachsous cadherin-related 1 | Inte registrerat | I 1 tillstånd |
| EARS2glutamyl-tRNA synthetase 2, mitochondrial | Inte registrerat | I 1 tillstånd |
| EEDembryonic ectoderm development | Inte registrerat | I 1 tillstånd |
| FASTKD2FASTK mitochondrial RNA regulator 2 | Inte registrerat | I 1 tillstånd |
| FAT4FAT atypical cadherin 4 | Inte registrerat | I 1 tillstånd |
| FDX2ferredoxin 2 | Inte registrerat | I 1 tillstånd |
| GLE1GLE1 RNA export mediator | Inte registrerat | I 1 tillstånd |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Inte registrerat | I 1 tillstånd |
| IDSiduronate 2-sulfatase | Inte registrerat | I 1 tillstånd |
| IER3IP1immediate early response 3 interacting protein 1 | Inte registrerat | I 1 tillstånd |
| LMX1BLIM homeobox transcription factor 1 beta | Inte registrerat | I 1 tillstånd |
| MAFMAF bZIP transcription factor | Inte registrerat | I 1 tillstånd |
| MYO9Amyosin IXA | Inte registrerat | I 1 tillstånd |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Inte registrerat | I 1 tillstånd |
| PACS1phosphofurin acidic cluster sorting protein 1 | Inte registrerat | I 1 tillstånd |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Inte registrerat | I 1 tillstånd |
| PEPDpeptidase D | Inte registrerat | I 1 tillstånd |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Inte registrerat | I 1 tillstånd |
| PIK3R2phosphoinositide-3-kinase regulatory subunit 2 | Inte registrerat | I 1 tillstånd |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Inte registrerat | I 1 tillstånd |
| RALARAS like proto-oncogene A | Inte registrerat | I 1 tillstånd |
| RNU12RNA, U12 small nuclear | Inte registrerat | I 1 tillstånd |
| RSPRY1ring finger and SPRY domain containing 1 | Inte registrerat | I 1 tillstånd |
| SCO1synthesis of cytochrome C oxidase 1 | Inte registrerat | I 1 tillstånd |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Inte registrerat | I 1 tillstånd |
| SEPTIN9septin 9 | Inte registrerat | I 1 tillstånd |
| SGPL1sphingosine-1-phosphate lyase 1 | Inte registrerat | I 1 tillstånd |
| SLC17A5solute carrier family 17 member 5 | Inte registrerat | I 1 tillstånd |
| SLC52A3solute carrier family 52 member 3 | Inte registrerat | I 2 tillstånd |
| SLC6A9solute carrier family 6 member 9 | Inte registrerat | I 1 tillstånd |
| SPRED1sprouty related EVH1 domain containing 1 | Inte registrerat | I 1 tillstånd |
| STAMBPSTAM binding protein | Inte registrerat | I 1 tillstånd |
| SURF1SURF1 cytochrome c oxidase assembly factor | Inte registrerat | I 1 tillstånd |
| TACO1translational activator of cytochrome c oxidase I | Inte registrerat | I 1 tillstånd |
| TCOF1treacle ribosome biogenesis factor 1 | Inte registrerat | I 1 tillstånd |
| TENM3teneurin transmembrane protein 3 | Inte registrerat | I 1 tillstånd |
| TGIF1TGFB induced factor homeobox 1 | Inte registrerat | I 1 tillstånd |
| THUMPD1THUMP domain 1 NAT10 acetyltransferase adaptor | Inte registrerat | I 1 tillstånd |
| TMEM107transmembrane protein 107 | Inte registrerat | I 1 tillstånd |
| TP63tumor protein p63 | Inte registrerat | I 1 tillstånd |
| UBA1ubiquitin like modifier activating enzyme 1 | Inte registrerat | I 1 tillstånd |
| UGDHUDP-glucose 6-dehydrogenase | Inte registrerat | I 1 tillstånd |
| UNC80unc-80 subunit of NALCN channel complex | Inte registrerat | I 1 tillstånd |
| WDR73WD repeat domain 73 | Inte registrerat | I 1 tillstånd |
| WFS1wolframin ER transmembrane glycoprotein | Inte registrerat | I 1 tillstånd |
| WNK3WNK lysine deficient protein kinase 3 | Inte registrerat | I 1 tillstånd |
| YARS2tyrosyl-tRNA synthetase 2 | Inte registrerat | I 1 tillstånd |
| ZMIZ1zinc finger MIZ-type containing 1 | Inte registrerat | I 1 tillstånd |
Hur ofta det förekommer hos personer med ett av genens tillstånd, den vanligaste frekvensen bland dem, enligt Human Phenotype Ontology. Dessa sidor beskriver egenskaper och forskningen bakom dem. De är inte en diagnos, och det är läkare eller genetisk rådgivare du bör fråga om symtom.
Mer specifika egenskaper
Bredare egenskaper
Varifrån informationen kommer
- Human Phenotype Ontology, version 2026-09-01: egenskapen, dess namn, definition och de gener som är kopplade till den. Läs mer på hpo.jax.org.
- Dataversion 2026.10.17-8666dff2.
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