Egenskap
Dropped arches
Kliniskt namn: Pes planus
A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.
Sammanfattning
- Även kallad
- Fallen arches, Flat feet, Flat foot
- Kroppssystem
- Abnormality of limbs
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/pes-planus.json"
page <- fromJSON(url)
page$trait$nameLäs generna kopplade till Dropped arches, och resten av ditt genom, med ett enda test.
Från 449 $Fri frakt · Resultat inom 6–8 veckor
Beställ mitt Genome Test150 condition reports read genes linked to this trait
Dante Labs condition reports look at the genes behind groups of inherited conditions, read from one whole-genome test. Each page says which conditions and genes a report covers, how it is read and what it cannot tell you.
- Fanconi AnemiaReads 18 of these genesBRCA1BRCA2BRIP1ERCC4FANCAFANCBAbout this report →
- Intellectual DisabilityReads 62 of these genesKDM6BMETTL23NONOTAF4TCF4TRMT1About this report →
- Aortic AneurysmReads 12 of these genesTGFBR1FBN1TGFB2TGFBR2ACTA2FOXE3About this report →
- Ehlers-Danlos SyndromeReads 14 of these genesAEBP1COL1A1FKBP14B4GALT7B3GALT6COL1A2About this report →
Show 146 more reports
- Cutis LaxaReads 12 of these genesATP6V0A2EFEMP1PYCR1RIN2ELNEMILIN1About this report →
- Marfan Like SyndromesReads 9 of these genesTGFBR1FBN1SKISMAD2SMAD3TGFB2About this report →
- DNA Repair DiseaseReads 18 of these genesBRCA1BRCA2BRIP1ERCC4FANCAFANCBAbout this report →
- Charcot-Marie-Tooth DiseaseReads 23 of these genesEGR2MPV17MPZPMP22PRXSBF1About this report →
- Loeys-Dietz SyndromeReads 6 of these genesTGFBR1SMAD2SMAD3TGFB2TGFB3TGFBR2About this report →
- Hypogonadotropic HypogonadismReads 15 of these genesRAB3GAP2PROKR2ANOS1CHD7FEZF1FGF17About this report →
- Rare Hereditary Peripheral NeuropathiesReads 32 of these genesEGR2MPV17MPZNDUFAF6PMP22PRXAbout this report →
- Epilepsy (Full Panel)Reads 27 of these genesGRIN2DRNU2-2SPTAN1ARXHNRNPH2IQSEC2About this report →
- Congenital MyopathiesReads 8 of these genesCFL2RYR1MYH7MYPNSELENONTPM2About this report →
- Epiphyseal and Spondyloepiphyseal DysplasiasReads 5 of these genesCOL9A3COMPCOL9A1XYLT1COL2A1About this report →
- Osteogenesis ImperfectaReads 9 of these genesATP6V0A2COL1A1PPIBPYCR1XYLT2COL1A2About this report →
- Spinal Muscular AtrophyReads 8 of these genesSPTAN1EMILIN1ATP7ABICD2BSCL2GARS1About this report →
- Congenital Disorders of GlycosylationReads 15 of these genesATP6V0A2SLC37A4ALG14ALG2B3GALT6B3GAT3About this report →
- Hereditary Breast and Ovarian Cancer (BRCA1/2)Reads 2 of these genesBRCA1BRCA2About this report →
- Congenital Myasthenic SyndromeReads 7 of these genesALG14ALG2DPAGT1GFPT1GMPPBSLC5A7About this report →
- Inherited Neurodegenerative DisordersReads 24 of these genesATCAYL1CAMSPTAN1VLDLRFMR1CLDN11About this report →
- Hereditary Spastic ParaplegiaReads 10 of these genesL1CAMSPTAN1RTN2AP4B1AP4E1AP4M1About this report →
- Hereditary Visceral Myopathy, CIPO & MMIHSReads 3 of these genesFLNAMYH11MYLKAbout this report →
- Syndromic Complex Neurodevelopmental DisorderReads 5 of these genesTFE3RNU4-2TRA2BTRAF7TRPM3About this report →
- Breast and Ovarian Cancer Genes Beyond BRCA1/2Reads 3 of these genesBRIP1PALB2RAD51CAbout this report →
- Achondrogenesis panelReads 2 of these genesCOL2A1GDF5About this report →
- Multiple Synostoses Syndrome (FGF9)Reads 2 of these genesGDF5GDF6About this report →
- Aarskog-Scott SyndromeReads 1 of these genesFGD1About this report →
- Au-Kline SyndromeReads 1 of these genesHNRNPKAbout this report →
- Beck-Fahrner SyndromeReads 1 of these genesTET3About this report →
- Caffey DiseaseReads 1 of these genesCOL1A1About this report →
- Campomelic DysplasiaReads 1 of these genesSOX9About this report →
- CHARGE SyndromeReads 1 of these genesCHD7About this report →
- CWC27-Related Retinitis Pigmentosa with Skeletal AnomaliesReads 1 of these genesCWC27About this report →
- DCC-Related Mirror Movements and Agenesis of the Corpus CallosumReads 1 of these genesDCCAbout this report →
- DeSanto-Shinawi SyndromeReads 1 of these genesWACAbout this report →
- Desbuquois Dysplasia 1Reads 1 of these genesCANT1About this report →
- DHX30-Related Neurodevelopmental DisorderReads 1 of these genesDHX30About this report →
- Dias-Logan SyndromeReads 1 of these genesBCL11AAbout this report →
- DPH1-Related Developmental Delay with Short StatureReads 1 of these genesDPH1About this report →
- Dravet SyndromeReads 1 of these genesSCN1AAbout this report →
- Dyssegmental Dysplasia, Silverman-Handmaker TypeReads 1 of these genesHSPG2About this report →
- Dystrophinopathies (Duchenne and Becker Muscular Dystrophy)Reads 1 of these genesDMDAbout this report →
- EBF3-Related Neurodevelopmental Disorder (HADDS)Reads 1 of these genesEBF3About this report →
- FANCM-Related Genomic Instability DisorderReads 1 of these genesFANCMAbout this report →
- Ferguson-Smith Disease (Multiple Self-Healing Squamous Epithelioma)Reads 1 of these genesTGFBR1About this report →
- Fragile X SyndromeReads 1 of these genesFMR1About this report →
- H SyndromeReads 1 of these genesSLC29A3About this report →
- Hand-Foot-Genital SyndromeReads 1 of these genesHOXA13About this report →
- Hereditary Neuropathy with Liability to Pressure Palsies (HNPP)Reads 1 of these genesPMP22About this report →
- Jaberi-Elahi SyndromeReads 1 of these genesGTPBP2About this report →
- JARID2-Related Neurodevelopmental DisorderReads 1 of these genesJARID2About this report →
- KCNH1-Related DisorderReads 1 of these genesKCNH1About this report →
- L1 SyndromeReads 1 of these genesL1CAMAbout this report →
- Lamb-Shaffer SyndromeReads 1 of these genesSOX5About this report →
- Mowat-Wilson SyndromeReads 1 of these genesZEB2About this report →
- Nail-Patella SyndromeReads 1 of these genesLMX1BAbout this report →
- Nizon-Isidor SyndromeReads 1 of these genesMED12LAbout this report →
- P5CS Deficiency (ALDH18A1-Related)Reads 1 of these genesALDH18A1About this report →
- PALB2 related diseasesReads 1 of these genesPALB2About this report →
- Radio-Tartaglia SyndromeReads 1 of these genesSPENAbout this report →
- Schwartz-Jampel Syndrome Type 1Reads 1 of these genesHSPG2About this report →
- SLC10A7-Related Skeletal Dysplasia With Amelogenesis ImperfectaReads 1 of these genesSLC10A7About this report →
- Spondyloepimetaphyseal Dysplasia with Joint Laxity Type 3Reads 1 of these genesEXOC6BAbout this report →
- Spondyloepiphyseal Dysplasia With Congenital Joint DislocationsReads 1 of these genesCHST3About this report →
- Stankiewicz-Isidor SyndromeReads 1 of these genesPSMD12About this report →
- Townes-Brocks SyndromeReads 1 of these genesSALL1About this report →
- TRPV4-Related Skeletal DysplasiasReads 1 of these genesTRPV4About this report →
- UNC13A-Related Neurodevelopmental DisordersReads 1 of these genesUNC13AAbout this report →
- Wiedemann-Steiner SyndromeReads 1 of these genesKMT2AAbout this report →
- Inherited Congenital Heart DefectsReads 3 of these genesELNFLNAGATA4About this report →
- Myofibrillar MyopathiesReads 3 of these genesPYROXD1RYR1TTNAbout this report →
- VitreoretinopathyReads 4 of these genesCOL9A3XYLT2COL9A1COL2A1About this report →
- Congenital Muscular DystrophiesReads 4 of these genesDPM3GMPPBCOL12A1SELENONAbout this report →
- Dilated CardiomyopathyReads 5 of these genesLMNADMDMYH7MYPNTTNAbout this report →
- Cleidocranial DysplasiaReads 1 of these genesCBFBAbout this report →
- DOORS SyndromeReads 1 of these genesATP6V1B2About this report →
- FLNB-Related Skeletal Dysplasia (Larsen Spectrum)Reads 1 of these genesFLNBAbout this report →
- Hereditary Multiple OsteochondromasReads 1 of these genesEXT2About this report →
- Juvenile Polyposis SyndromeReads 1 of these genesSMAD4About this report →
- Malignant Hyperthermia SusceptibilityReads 1 of these genesRYR1About this report →
- Otospondylomegaepiphyseal Dysplasia (OSMED)Reads 1 of these genesCOL2A1About this report →
- PRR12-Related Neuroocular SyndromeReads 1 of these genesPRR12About this report →
- Imprinting Disorders: Prader-Willi, Silver-Russell and Beckwith-WiedemannReads 2 of these genesNSD1SNRPNAbout this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 5 of these genesATCAYVLDLRPMPCAPEX6SIL1About this report →
- Hypertrophic CardiomyopathyReads 5 of these genesMAPK1MYH7MYPNNSD1SPRED2About this report →
- Lissencephaly Spectrum DisordersReads 3 of these genesRAB3GAP2ARXAPC2About this report →
- Syndromic CraniosynostosisReads 3 of these genesKAT6ASKIFGFR1About this report →
- HyperinsulinismReads 2 of these genesPMM2HK1About this report →
- LipodystrophyReads 2 of these genesLMNABSCL2About this report →
- Disorder of Copper MetabolismReads 1 of these genesATP7AAbout this report →
- Familial Hemiplegic MigraineReads 1 of these genesSCN1AAbout this report →
- Mucolipidoses (ML II, ML III and ML IV)Reads 1 of these genesGNPTGAbout this report →
- Thyroid Hormone Resistance, Transport & Metabolism DefectsReads 1 of these genesSLC16A2About this report →
- Limb-Girdle Muscular DystrophyReads 3 of these genesLMNAGMPPBTTNAbout this report →
- Familial Atrial FibrillationReads 1 of these genesGJA5About this report →
- Hereditary Episodic AtaxiasReads 1 of these genesSCN2AAbout this report →
- Hereditary Hemorrhagic TelangiectasiaReads 1 of these genesSMAD4About this report →
- Moyamoya DiseaseReads 1 of these genesACTA2About this report →
- Overgrowth Syndromes (Sotos, Weaver, Tatton-Brown-Rahman, Malan)Reads 1 of these genesNSD1About this report →
- Pseudohypoparathyroidism & GNAS-Inactivation DisordersReads 1 of these genesPDE4DAbout this report →
- 46,XY Differences of Sex Development and Gonadal DysgenesisReads 2 of these genesGATA4ATRXAbout this report →
- Distal MyopathiesReads 2 of these genesMYH7TTNAbout this report →
- Homocystinuria & Cobalamin DisordersReads 2 of these genesMTRAHCYAbout this report →
- Neonatal Diabetes MellitusReads 2 of these genesBSCL2GATA4About this report →
- Mosaic Variegated Aneuploidy SyndromeReads 1 of these genesSMC5About this report →
- MTOR Pathway Megalencephaly and Overgrowth DisordersReads 1 of these genesMTORAbout this report →
- Periventricular Nodular HeterotopiaReads 1 of these genesFLNAAbout this report →
- Sclerosing Bone Dysplasias (High Bone Mass)Reads 1 of these genesTGFB1About this report →
- Hereditary Sensory and Autonomic Neuropathies (incl. Familial Dysautonomia)Reads 2 of these genesSCN9ACRLF1About this report →
- Noonan SyndromeReads 2 of these genesMAPK1SPRED2About this report →
- Chronic Granulomatous DiseaseReads 1 of these genesNCF1About this report →
- Cornelia de Lange SyndromeReads 1 of these genesHDAC8About this report →
- Inflammatory Bowel Diseases (IBD)Reads 1 of these genesTGFB1About this report →
- Microphthalmia, Anophthalmia & ColobomaReads 2 of these genesRAB3GAP2MAB21L2About this report →
- Alpha-Mannosidosis and Other GlycoproteinosesReads 1 of these genesAGAAbout this report →
- Left Ventricular NoncompactionReads 1 of these genesMYH7About this report →
- Waardenburg SyndromeReads 1 of these genesSOX10About this report →
- Diabetes MellitusReads 2 of these genesBSCL2GATA4About this report →
- GlaucomaReads 1 of these genesEFEMP1About this report →
- Progressive Cardiac Conduction Disease & Sick Sinus SyndromeReads 1 of these genesLMNAAbout this report →
- Pyruvate Kinase Deficiency and Other Red Cell Enzyme DisordersReads 1 of these genesHK1About this report →
- Primary Mitochondrial DiseaseReads 4 of these genesMPV17NDUFAF6DNAJC30SCO2About this report →
- Other Inherited LeukodystrophiesReads 3 of these genesCLDN11ALDH3A2PEX6About this report →
- Anterior Segment Dysgenesis, Axenfeld-Rieger Syndrome & AniridiaReads 1 of these genesFOXE3About this report →
- Autism Spectrum DisorderReads 1 of these genesCHD8About this report →
- Hereditary Macular DystrophiesReads 1 of these genesEFEMP1About this report →
- Long QT SyndromeReads 1 of these genesCACNA1CAbout this report →
- Male InfertilityReads 2 of these genesFKBP6FANCMAbout this report →
- Usher SyndromeReads 1 of these genesADGRV1About this report →
- Frontotemporal DementiaReads 1 of these genesCHCHD10About this report →
- Female InfertilityReads 2 of these genesFMR1FANCMAbout this report →
- Diamond-Blackfan AnemiaReads 1 of these genesHEATR3About this report →
- Zellweger Spectrum & Peroxisome Biogenesis DisordersReads 1 of these genesPEX6About this report →
- Lysosomal Storage DiseaseReads 2 of these genesGNPTGAGAAbout this report →
- Complex Cortical Dysplasia and Frontoparietal PolymicrogyriaReads 1 of these genesAPC2About this report →
- Glycogen Storage DiseaseReads 1 of these genesSLC37A4About this report →
- Autosomal Recessive Primary MicrocephalyReads 1 of these genesCEP152About this report →
- Leigh SyndromeReads 2 of these genesNDUFAF6SCO2About this report →
- Hereditary Corneal DystrophiesReads 1 of these genesTCF4About this report →
- GPI Anchor Biosynthesis DefectsReads 1 of these genesPIGGAbout this report →
- Pontocerebellar Hypoplasia (TSEN54 and MINPP1)Reads 1 of these genesTBC1D23About this report →
- Bardet-Biedl and Alström SyndromesReads 1 of these genesALMS1About this report →
- Pelizaeus-Merzbacher Disease & Hypomyelinating LeukodystrophiesReads 1 of these genesCLDN11About this report →
- Non-Acquired Combined Pituitary Hormone DeficiencyReads 1 of these genesHESX1About this report →
- Amyotrophic Lateral Sclerosis (ALS)Reads 1 of these genesCHCHD10About this report →
- Inherited ThrombocytopeniasReads 1 of these genesFLI1About this report →
- Hereditary Palmoplantar Keratodermas and Pachyonychia CongenitaReads 1 of these genesCTSCAbout this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 1 of these genesPRRT2About this report →
- Other Inborn Errors of ImmunityReads 2 of these genesNCF1RELAbout this report →
- Retinitis PigmentosaReads 1 of these genesHK1About this report →
Läs generna kopplade till Dropped arches, och resten av ditt genom, med ett enda test.
Från 449 $Fri frakt · Resultat inom 6–8 veckor
Beställ mitt Genome Test397 gener kopplade till Dropped arches
Förändringar i dessa gener orsakar sällsynta tillstånd där Dropped arches 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 |
|---|---|---|
| AEBP1AE binding protein 1 | Alltid | I 2 tillstånd |
| AMOTL1angiomotin like 1 | Alltid | I 1 tillstånd |
| ATCAYATCAY kinesin light chain interacting caytaxin | Alltid | I 1 tillstånd |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Alltid | I 3 tillstånd |
| CILK1ciliogenesis associated kinase 1 | Alltid | I 1 tillstånd |
| COL1A1collagen type I alpha 1 chain | Alltid | I 2 tillstånd |
| COL9A3collagen type IX alpha 3 chain | Alltid | I 1 tillstånd |
| COMPcartilage oligomeric matrix protein | Alltid | I 1 tillstånd |
| CUL7cullin 7 | Alltid | I 1 tillstånd |
| EFEMP1EGF-like fibulin extracellular matrix protein 1 | Alltid | I 1 tillstånd |
| EGR2early growth response 2 | Alltid | I 1 tillstånd |
| ERI1exoribonuclease 1 | Alltid | I 1 tillstånd |
| FAM177A1family with sequence similarity 177 member A1 | Alltid | I 1 tillstånd |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Alltid | I 2 tillstånd |
| FKBP14FKBP prolyl isomerase 14 | Alltid | I 2 tillstånd |
| GNPTGN-acetylglucosamine-1-phosphate transferase subunit gamma | Alltid | I 1 tillstånd |
| GON4Lgon-4 like | Alltid | I 1 tillstånd |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Alltid | I 1 tillstånd |
| H4C11H4 clustered histone 11 | Alltid | I 1 tillstånd |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Alltid | I 2 tillstånd |
| HOXA13homeobox A13 | Alltid | I 1 tillstånd |
| JKAMPJNK1/MAPK8 associated membrane protein | Alltid | I 1 tillstånd |
| KDM2Blysine demethylase 2B | Alltid | I 1 tillstånd |
| KDM6Blysine demethylase 6B | Alltid | I 1 tillstånd |
| KMT2Alysine methyltransferase 2A | Alltid | I 1 tillstånd |
| L1CAML1 cell adhesion molecule | Alltid | I 1 tillstånd |
| MED16mediator complex subunit 16 | Alltid | I 1 tillstånd |
| METTL23methyltransferase 23, arginine | Alltid | I 1 tillstånd |
| MPV17mitochondrial inner membrane protein MPV17 | Alltid | I 1 tillstånd |
| MPZmyelin protein zero | Alltid | I 2 tillstånd |
| NDUFAF6NADH:ubiquinone oxidoreductase complex assembly factor 6 | Alltid | I 1 tillstånd |
| NONOnon-POU domain containing octamer binding | Alltid | I 2 tillstånd |
| PMP22peripheral myelin protein 22 | Alltid | I 1 tillstånd |
| PPIBpeptidylprolyl isomerase B | Alltid | I 1 tillstånd |
| PRXperiaxin | Alltid | I 1 tillstånd |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Alltid | I 1 tillstånd |
| PYCR1pyrroline-5-carboxylate reductase 1 | Alltid | I 3 tillstånd |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Alltid | I 1 tillstånd |
| RBSNrabenosyn, RAB effector | Alltid | I 1 tillstånd |
| RIN2Ras and Rab interactor 2 | Alltid | I 2 tillstånd |
Visa 357 gener till
| Gen | Hur ofta den förekommer | Tillstånd |
|---|---|---|
| RNU2-2RNA, U2 small nuclear 2 | Alltid | I 1 tillstånd |
| SBF1SET binding factor 1 | Alltid | I 1 tillstånd |
| SCAF4SR-related CTD associated factor 4 | Alltid | I 1 tillstånd |
| SCARF2scavenger receptor class F member 2 | Alltid | I 1 tillstånd |
| SLC13A1solute carrier family 13 member 1 | Alltid | I 1 tillstånd |
| SLC37A4solute carrier family 37 member 4 | Alltid | I 1 tillstånd |
| SPIN4spindlin family member 4 | Alltid | I 1 tillstånd |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Alltid | I 1 tillstånd |
| TAF4TATA-box binding protein associated factor 4 | Alltid | I 1 tillstånd |
| TCF4transcription factor 4 | Alltid | I 2 tillstånd |
| TGFBR1transforming growth factor beta receptor 1 | Alltid | I 3 tillstånd |
| TMCO1transmembrane and coiled-coil domains 1 | Alltid | I 1 tillstånd |
| TRMT1tRNA methyltransferase 1 | Alltid | I 1 tillstånd |
| UBAP2Lubiquitin associated protein 2 like | Alltid | I 1 tillstånd |
| UBE2Aubiquitin conjugating enzyme E2 A | Alltid | I 1 tillstånd |
| UNC13Aunc-13 homolog A | Alltid | I 1 tillstånd |
| VLDLRvery low density lipoprotein receptor | Alltid | I 1 tillstånd |
| WSB2WD repeat and SOCS box containing 2 | Alltid | I 1 tillstånd |
| XYLT2xylosyltransferase 2 | Alltid | I 2 tillstånd |
| B4GALT7beta-1,4-galactosyltransferase 7 | Mycket ofta (80–99 %) | I 2 tillstånd |
| FBN1fibrillin 1 | Mycket ofta (80–99 %) | I 4 tillstånd |
| FMR1fragile X messenger ribonucleoprotein 1 | Mycket ofta (80–99 %) | I 2 tillstånd |
| HDAC8histone deacetylase 8 | Mycket ofta (80–99 %) | I 1 tillstånd |
| HSPG2heparan sulfate proteoglycan 2 | Mycket ofta (80–99 %) | I 2 tillstånd |
| IPO8importin 8 | Mycket ofta (80–99 %) | I 2 tillstånd |
| KAT6Alysine acetyltransferase 6A | Mycket ofta (80–99 %) | I 1 tillstånd |
| LAS1LLAS1 like ribosome biogenesis factor | Mycket ofta (80–99 %) | I 2 tillstånd |
| LMNAlamin A/C | Mycket ofta (80–99 %) | I 1 tillstånd |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Mycket ofta (80–99 %) | I 1 tillstånd |
| SKISKI proto-oncogene | Mycket ofta (80–99 %) | I 2 tillstånd |
| SMAD2SMAD family member 2 | Mycket ofta (80–99 %) | I 3 tillstånd |
| SMAD3SMAD family member 3 | Mycket ofta (80–99 %) | I 4 tillstånd |
| TBL1XR1TBL1X/Y related 1 | Mycket ofta (80–99 %) | I 1 tillstånd |
| TGFB2transforming growth factor beta 2 | Mycket ofta (80–99 %) | I 3 tillstånd |
| TGFB3transforming growth factor beta 3 | Mycket ofta (80–99 %) | I 3 tillstånd |
| TGFBR2transforming growth factor beta receptor 2 | Mycket ofta (80–99 %) | I 3 tillstånd |
| ADNPactivity dependent neuroprotector homeobox | Ofta (30–79 %) | I 1 tillstånd |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Ofta (30–79 %) | I 1 tillstånd |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Ofta (30–79 %) | I 2 tillstånd |
| ALMS1ALMS1 centrosome and basal body associated protein | Ofta (30–79 %) | I 2 tillstånd |
| ARHGAP19Rho GTPase activating protein 19 | Ofta (30–79 %) | I 1 tillstånd |
| ARXaristaless related homeobox | Ofta (30–79 %) | I 1 tillstånd |
| ASPHaspartate beta-hydroxylase | Ofta (30–79 %) | I 1 tillstånd |
| B3GALT6beta-1,3-galactosyltransferase 6 | Ofta (30–79 %) | I 1 tillstånd |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Ofta (30–79 %) | I 1 tillstånd |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Ofta (30–79 %) | I 1 tillstånd |
| BCRBCR activator of RhoGEF and GTPase | Ofta (30–79 %) | I 1 tillstånd |
| BGNbiglycan | Ofta (30–79 %) | I 1 tillstånd |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Ofta (30–79 %) | I 1 tillstånd |
| CDK10cyclin dependent kinase 10 | Ofta (30–79 %) | I 1 tillstånd |
| CEP152centrosomal protein 152 | Ofta (30–79 %) | I 1 tillstånd |
| CFL2cofilin 2 | Ofta (30–79 %) | I 1 tillstånd |
| CHST3carbohydrate sulfotransferase 3 | Ofta (30–79 %) | I 2 tillstånd |
| CLDN11claudin 11 | Ofta (30–79 %) | I 1 tillstånd |
| CLIP2CAP-Gly domain containing linker protein 2 | Ofta (30–79 %) | I 1 tillstånd |
| COL1A2collagen type I alpha 2 chain | Ofta (30–79 %) | I 3 tillstånd |
| COL27A1collagen type XXVII alpha 1 chain | Ofta (30–79 %) | I 1 tillstånd |
| COL5A1collagen type V alpha 1 chain | Ofta (30–79 %) | I 3 tillstånd |
| COL9A1collagen type IX alpha 1 chain | Ofta (30–79 %) | I 1 tillstånd |
| CRKLCRK like proto-oncogene, adaptor protein | Ofta (30–79 %) | I 1 tillstånd |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Ofta (30–79 %) | I 1 tillstånd |
| CTSCcathepsin C | Ofta (30–79 %) | I 2 tillstånd |
| DACT1dishevelled binding antagonist of beta catenin 1 | Ofta (30–79 %) | I 1 tillstånd |
| DLG4discs large MAGUK scaffold protein 4 | Ofta (30–79 %) | I 1 tillstånd |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Ofta (30–79 %) | I 1 tillstånd |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Ofta (30–79 %) | I 1 tillstånd |
| DPH1diphthamide biosynthesis 1 | Ofta (30–79 %) | I 2 tillstånd |
| DPH2diphthamide biosynthesis 2 | Ofta (30–79 %) | I 1 tillstånd |
| DPM3dolichyl-phosphate mannosyltransferase subunit 3, regulatory | Ofta (30–79 %) | I 1 tillstånd |
| EIF4Heukaryotic translation initiation factor 4H | Ofta (30–79 %) | I 1 tillstånd |
| EIF5Aeukaryotic translation initiation factor 5A | Ofta (30–79 %) | I 1 tillstånd |
| ELNelastin | Ofta (30–79 %) | I 3 tillstånd |
| EMILIN1elastin microfibril interfacer 1 | Ofta (30–79 %) | I 1 tillstånd |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Ofta (30–79 %) | I 1 tillstånd |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Ofta (30–79 %) | I 1 tillstånd |
| GFPT1glutamine--fructose-6-phosphate transaminase 1 | Ofta (30–79 %) | I 1 tillstånd |
| GMPPBGDP-mannose pyrophosphorylase B | Ofta (30–79 %) | I 1 tillstånd |
| GTF2Igeneral transcription factor IIi | Ofta (30–79 %) | I 1 tillstånd |
| GTF2IRD1GTF2I repeat domain containing 1 | Ofta (30–79 %) | I 1 tillstånd |
| GTF2IRD2GTF2I repeat domain containing 2 | Ofta (30–79 %) | I 1 tillstånd |
| GTPBP1GTP binding protein 1 | Ofta (30–79 %) | I 1 tillstånd |
| GTPBP2GTP binding protein 2 | Ofta (30–79 %) | I 1 tillstånd |
| HEATR3HEAT repeat containing 3 | Ofta (30–79 %) | I 1 tillstånd |
| HIVEP2HIVEP zinc finger 2 | Ofta (30–79 %) | I 1 tillstånd |
| HNRNPH2heterogeneous nuclear ribonucleoprotein H2 | Ofta (30–79 %) | I 1 tillstånd |
| IQSEC2IQ motif and Sec7 domain ArfGEF 2 | Ofta (30–79 %) | I 1 tillstånd |
| LIMK1LIM domain kinase 1 | Ofta (30–79 %) | I 1 tillstånd |
| LMX1BLIM homeobox transcription factor 1 beta | Ofta (30–79 %) | I 2 tillstånd |
| MAPK1mitogen-activated protein kinase 1 | Ofta (30–79 %) | I 2 tillstånd |
| MED12mediator complex subunit 12 | Ofta (30–79 %) | I 1 tillstånd |
| METTL27methyltransferase like 27 | Ofta (30–79 %) | I 1 tillstånd |
| MTR5-methyltetrahydrofolate-homocysteine methyltransferase | Ofta (30–79 %) | I 1 tillstånd |
| NCF1neutrophil cytosolic factor 1 | Ofta (30–79 %) | I 1 tillstånd |
| PMM2phosphomannomutase 2 | Ofta (30–79 %) | I 1 tillstånd |
| PMPCApeptidase, mitochondrial processing subunit alpha | Ofta (30–79 %) | I 1 tillstånd |
| PRKG2protein kinase cGMP-dependent 2 | Ofta (30–79 %) | I 1 tillstånd |
| PROKR2prokineticin receptor 2 | Ofta (30–79 %) | I 2 tillstånd |
| PRR12proline rich 12 | Ofta (30–79 %) | I 1 tillstånd |
| PYROXD1pyridine nucleotide-disulphide oxidoreductase domain 1 | Ofta (30–79 %) | I 1 tillstånd |
| RAI1retinoic acid induced 1 | Ofta (30–79 %) | I 3 tillstånd |
| RFC2replication factor C subunit 2 | Ofta (30–79 %) | I 1 tillstånd |
| RPS6KA3ribosomal protein S6 kinase A3 | Ofta (30–79 %) | I 2 tillstånd |
| RSPRY1ring finger and SPRY domain containing 1 | Ofta (30–79 %) | I 1 tillstånd |
| RTN2reticulon 2 | Ofta (30–79 %) | I 1 tillstånd |
| RYR1ryanodine receptor 1 | Ofta (30–79 %) | I 2 tillstånd |
| SALL1spalt like transcription factor 1 | Ofta (30–79 %) | I 1 tillstånd |
| SARS1seryl-tRNA synthetase 1 | Ofta (30–79 %) | I 1 tillstånd |
| SCO2synthesis of cytochrome C oxidase 2 | Ofta (30–79 %) | I 2 tillstånd |
| SEC23ASEC23 homolog A, COPII component | Ofta (30–79 %) | I 2 tillstånd |
| SLC16A2solute carrier family 16 member 2 | Ofta (30–79 %) | I 2 tillstånd |
| SLC29A3solute carrier family 29 member 3 | Ofta (30–79 %) | I 2 tillstånd |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Ofta (30–79 %) | I 1 tillstånd |
| SMC5structural maintenance of chromosomes 5 | Ofta (30–79 %) | I 1 tillstånd |
| STX1Asyntaxin 1A | Ofta (30–79 %) | I 1 tillstånd |
| TBL2transducin beta like 2 | Ofta (30–79 %) | I 1 tillstånd |
| TFE3transcription factor binding to IGHM enhancer 3 | Ofta (30–79 %) | I 1 tillstånd |
| TMEM270transmembrane protein 270 | Ofta (30–79 %) | I 1 tillstånd |
| TNXBtenascin XB | Ofta (30–79 %) | I 1 tillstånd |
| TPRtranslocated promoter region, nuclear basket protein | Ofta (30–79 %) | I 1 tillstånd |
| VPS37DVPS37D subunit of ESCRT-I | Ofta (30–79 %) | I 1 tillstånd |
| WASF1WASP family member 1 | Ofta (30–79 %) | I 1 tillstånd |
| XYLT1xylosyltransferase 1 | Ofta (30–79 %) | I 2 tillstånd |
| ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase | Ibland (5–29 %) | I 1 tillstånd |
| ACTA2actin alpha 2, smooth muscle | Ibland (5–29 %) | I 1 tillstånd |
| AFF3ALF transcription elongation factor 3 | Ibland (5–29 %) | I 1 tillstånd |
| AGAaspartylglucosaminidase | Ibland (5–29 %) | I 1 tillstånd |
| AHCYadenosylhomocysteinase | Ibland (5–29 %) | I 1 tillstånd |
| AHDC1AT-hook DNA binding motif containing 1 | Ibland (5–29 %) | I 1 tillstånd |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Ibland (5–29 %) | I 1 tillstånd |
| ANOS1anosmin 1 | Ibland (5–29 %) | I 1 tillstånd |
| AP1G1adaptor related protein complex 1 subunit gamma 1 | Ibland (5–29 %) | I 1 tillstånd |
| AP4B1adaptor related protein complex 4 subunit beta 1 | Ibland (5–29 %) | I 2 tillstånd |
| AP4E1adaptor related protein complex 4 subunit epsilon 1 | Ibland (5–29 %) | I 1 tillstånd |
| AP4M1adaptor related protein complex 4 subunit mu 1 | Ibland (5–29 %) | I 1 tillstånd |
| AP4S1adaptor related protein complex 4 subunit sigma 1 | Ibland (5–29 %) | I 1 tillstånd |
| APC2APC regulator of Wnt signaling pathway 2 | Ibland (5–29 %) | I 1 tillstånd |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Ibland (5–29 %) | I 1 tillstånd |
| ASXL3ASXL transcriptional regulator 3 | Ibland (5–29 %) | I 2 tillstånd |
| ATP6AP2ATPase H+ transporting accessory protein 2 | Ibland (5–29 %) | I 1 tillstånd |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Ibland (5–29 %) | I 2 tillstånd |
| ATP7AATPase copper transporting alpha | Ibland (5–29 %) | I 2 tillstånd |
| BCL11ABCL11 transcription factor A | Ibland (5–29 %) | I 1 tillstånd |
| BICD2BICD cargo adaptor 2 | Ibland (5–29 %) | I 1 tillstånd |
| BPTFbromodomain PHD finger transcription 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 |
| BRF1BRF1 general transcription factor IIIB subunit | Ibland (5–29 %) | I 1 tillstånd |
| BRIP1BRCA1 interacting DNA helicase 1 | Ibland (5–29 %) | I 1 tillstånd |
| BRWD3bromodomain and WD repeat domain containing 3 | Ibland (5–29 %) | I 1 tillstånd |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Ibland (5–29 %) | I 1 tillstånd |
| CACHD1cache domain containing 1 | Ibland (5–29 %) | I 1 tillstånd |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Ibland (5–29 %) | I 1 tillstånd |
| CADM3cell adhesion molecule 3 | Ibland (5–29 %) | I 1 tillstånd |
| CBFBcore-binding factor subunit beta | Ibland (5–29 %) | I 1 tillstånd |
| CCDC141coiled-coil domain containing 141 | Ibland (5–29 %) | I 1 tillstånd |
| CCNKcyclin K | Ibland (5–29 %) | I 1 tillstånd |
| CDC42BPBCDC42 binding protein kinase beta | Ibland (5–29 %) | I 1 tillstånd |
| CHD7chromodomain helicase DNA binding protein 7 | Ibland (5–29 %) | I 1 tillstånd |
| CHD8chromodomain helicase DNA binding protein 8 | Ibland (5–29 %) | I 1 tillstånd |
| CICcapicua transcriptional repressor | Ibland (5–29 %) | I 1 tillstånd |
| CNOT3CCR4-NOT transcription complex subunit 3 | Ibland (5–29 %) | I 1 tillstånd |
| COL12A1collagen type XII alpha 1 chain | Ibland (5–29 %) | I 1 tillstånd |
| COL5A2collagen type V alpha 2 chain | Ibland (5–29 %) | I 1 tillstånd |
| COPB1coat protein complex I subunit beta 1 | Ibland (5–29 %) | I 1 tillstånd |
| CTCFCCCTC-binding factor | Ibland (5–29 %) | I 1 tillstånd |
| CUL4Bcullin 4B | Ibland (5–29 %) | I 1 tillstånd |
| CWC27CWC27 spliceosome associated cyclophilin | Ibland (5–29 %) | I 2 tillstånd |
| DCCDCC netrin 1 receptor | Ibland (5–29 %) | I 1 tillstånd |
| DHX30DExH-box helicase 30 | Ibland (5–29 %) | I 1 tillstånd |
| DMDdystrophin | Ibland (5–29 %) | I 1 tillstånd |
| DPH5diphthamide biosynthesis 5 | Ibland (5–29 %) | I 1 tillstånd |
| DUSP6dual specificity phosphatase 6 | Ibland (5–29 %) | I 1 tillstånd |
| DYMdymeclin | Ibland (5–29 %) | I 1 tillstånd |
| EBF3EBF transcription factor 3 | Ibland (5–29 %) | I 1 tillstånd |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Ibland (5–29 %) | I 1 tillstånd |
| EHMT1euchromatic histone lysine methyltransferase 1 | Ibland (5–29 %) | I 1 tillstånd |
| EIF3Feukaryotic translation initiation factor 3 subunit F | Ibland (5–29 %) | I 1 tillstånd |
| EMX2empty spiracles homeobox 2 | Ibland (5–29 %) | I 1 tillstånd |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Ibland (5–29 %) | I 1 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 |
| FBXO11F-box protein 11 | Ibland (5–29 %) | I 1 tillstånd |
| FBXO22F-box protein 22 | Ibland (5–29 %) | I 1 tillstånd |
| FEZF1FEZ family zinc finger 1 | 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 |
| FGFR1fibroblast growth factor receptor 1 | Ibland (5–29 %) | I 1 tillstånd |
| FIBPFGF1 intracellular binding protein | Ibland (5–29 %) | I 1 tillstånd |
| FLNAfilamin A | Ibland (5–29 %) | I 2 tillstånd |
| FLNBfilamin B | Ibland (5–29 %) | I 2 tillstånd |
| FLRT3fibronectin leucine rich transmembrane protein 3 | Ibland (5–29 %) | I 1 tillstånd |
| FOXE3forkhead box E3 | Ibland (5–29 %) | I 1 tillstånd |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Ibland (5–29 %) | I 1 tillstånd |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Ibland (5–29 %) | I 2 tillstånd |
| GARS1glycyl-tRNA synthetase 1 | Ibland (5–29 %) | I 1 tillstånd |
| GATA4GATA binding protein 4 | Ibland (5–29 %) | I 1 tillstånd |
| GDF11growth differentiation factor 11 | Ibland (5–29 %) | I 1 tillstånd |
| GNB1G protein subunit beta 1 | Ibland (5–29 %) | I 1 tillstånd |
| GORABgolgin, RAB6 interacting | Ibland (5–29 %) | I 1 tillstånd |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Ibland (5–29 %) | I 1 tillstånd |
| GRIN2Bglutamate ionotropic receptor NMDA type subunit 2B | Ibland (5–29 %) | I 1 tillstånd |
| H3-3BH3.3 histone B | Ibland (5–29 %) | I 1 tillstånd |
| H4C5H4 clustered histone 5 | Ibland (5–29 %) | I 1 tillstånd |
| HESX1HESX homeobox 1 | Ibland (5–29 %) | I 1 tillstånd |
| HEY2hes related family bHLH transcription factor with YRPW motif 2 | Ibland (5–29 %) | I 1 tillstånd |
| HK1hexokinase 1 | Ibland (5–29 %) | I 1 tillstånd |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Ibland (5–29 %) | I 2 tillstånd |
| HS6ST1heparan sulfate 6-O-sulfotransferase 1 | Ibland (5–29 %) | I 1 tillstånd |
| IFITM5interferon induced transmembrane protein 5 | Ibland (5–29 %) | I 1 tillstånd |
| IL17RDinterleukin 17 receptor D | Ibland (5–29 %) | I 1 tillstånd |
| JARID2jumonji and AT-rich interaction domain containing 2 | Ibland (5–29 %) | I 1 tillstånd |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Ibland (5–29 %) | I 1 tillstånd |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Ibland (5–29 %) | I 1 tillstånd |
| KDELR2KDEL endoplasmic reticulum protein retention receptor 2 | Ibland (5–29 %) | I 1 tillstånd |
| LOXlysyl oxidase | Ibland (5–29 %) | I 1 tillstånd |
| LRRC7leucine rich repeat containing 7 | Ibland (5–29 %) | I 1 tillstånd |
| MAB21L2mab-21 like 2 | Ibland (5–29 %) | I 1 tillstånd |
| MAD2L2mitotic arrest deficient 2 like 2 | Ibland (5–29 %) | I 1 tillstånd |
| MAPRE2microtubule associated protein RP/EB family member 2 | Ibland (5–29 %) | I 1 tillstånd |
| MAT2Amethionine adenosyltransferase 2A | Ibland (5–29 %) | I 1 tillstånd |
| MED12Lmediator complex subunit 12L | Ibland (5–29 %) | I 1 tillstånd |
| MFAP5microfibril associated protein 5 | Ibland (5–29 %) | I 1 tillstånd |
| MORC2MORC family CW-type zinc finger 2 | Ibland (5–29 %) | I 1 tillstånd |
| MTORmechanistic target of rapamycin kinase | Ibland (5–29 %) | I 1 tillstånd |
| MYH11myosin heavy chain 11 | Ibland (5–29 %) | I 1 tillstånd |
| MYH3myosin heavy chain 3 | Ibland (5–29 %) | I 1 tillstånd |
| MYH7myosin heavy chain 7 | Ibland (5–29 %) | I 1 tillstånd |
| MYLKmyosin light chain kinase | Ibland (5–29 %) | I 1 tillstånd |
| MYPNmyopalladin | Ibland (5–29 %) | I 1 tillstånd |
| NAA20N-alpha-acetyltransferase 20, NatB catalytic subunit | Ibland (5–29 %) | I 1 tillstånd |
| NDNFneuron derived neurotrophic factor | Ibland (5–29 %) | I 1 tillstånd |
| NDST1N-deacetylase and N-sulfotransferase 1 | Ibland (5–29 %) | I 1 tillstånd |
| NPR3natriuretic peptide receptor 3 | Ibland (5–29 %) | I 1 tillstånd |
| NSD1nuclear receptor binding SET domain protein 1 | Ibland (5–29 %) | I 2 tillstånd |
| PACS1phosphofurin acidic cluster sorting protein 1 | Ibland (5–29 %) | I 2 tillstånd |
| PALB2partner and localizer of BRCA2 | Ibland (5–29 %) | I 1 tillstånd |
| PCDH19protocadherin 19 | Ibland (5–29 %) | I 1 tillstånd |
| PDE4Dphosphodiesterase 4D | Ibland (5–29 %) | I 1 tillstånd |
| PHF8PHD finger protein 8 | Ibland (5–29 %) | I 1 tillstånd |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Ibland (5–29 %) | I 1 tillstånd |
| PRDM5PR/SET domain 5 | Ibland (5–29 %) | I 1 tillstånd |
| PRKG1protein kinase cGMP-dependent 1 | Ibland (5–29 %) | I 1 tillstånd |
| PROK2prokineticin 2 | Ibland (5–29 %) | I 1 tillstånd |
| PUF60poly(U) binding splicing factor 60 | Ibland (5–29 %) | I 2 tillstånd |
| RAB33BRAB33B, member RAS oncogene family | Ibland (5–29 %) | I 1 tillstånd |
| RAD51RAD51 recombinase | Ibland (5–29 %) | I 1 tillstånd |
| RAD51CRAD51 paralog C | Ibland (5–29 %) | I 1 tillstånd |
| RELREL proto-oncogene, NF-kB subunit | Ibland (5–29 %) | I 1 tillstånd |
| RFWD3ring finger and WD repeat domain 3 | Ibland (5–29 %) | I 1 tillstånd |
| RNU4-2RNA, U4 small nuclear 2 | Ibland (5–29 %) | I 1 tillstånd |
| RNU5B-1RNA, U5B small nuclear 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 2 tillstånd |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Ibland (5–29 %) | I 2 tillstånd |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Ibland (5–29 %) | I 2 tillstånd |
| SCN9Asodium voltage-gated channel alpha subunit 9 | Ibland (5–29 %) | I 2 tillstånd |
| SELENONselenoprotein N | Ibland (5–29 %) | I 1 tillstånd |
| SEMA3Asemaphorin 3A | Ibland (5–29 %) | I 1 tillstånd |
| SH3TC2SH3 domain and tetratricopeptide repeats 2 | Ibland (5–29 %) | I 1 tillstånd |
| SLC5A7solute carrier family 5 member 7 | Ibland (5–29 %) | I 1 tillstånd |
| SLC9A7solute carrier family 9 member A7 | Ibland (5–29 %) | I 1 tillstånd |
| SLX4SLX4 structure-specific endonuclease subunit | Ibland (5–29 %) | I 1 tillstånd |
| SMAD4SMAD family member 4 | Ibland (5–29 %) | I 1 tillstånd |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Ibland (5–29 %) | I 1 tillstånd |
| SOX10SRY-box transcription factor 10 | Ibland (5–29 %) | I 1 tillstånd |
| SOX5SRY-box transcription factor 5 | Ibland (5–29 %) | I 1 tillstånd |
| SOX9SRY-box transcription factor 9 | Ibland (5–29 %) | I 1 tillstånd |
| SPENspen family transcriptional repressor | Ibland (5–29 %) | I 1 tillstånd |
| SPRED2sprouty related EVH1 domain containing 2 | Ibland (5–29 %) | I 1 tillstånd |
| SPRY4sprouty RTK signaling antagonist 4 | Ibland (5–29 %) | I 1 tillstånd |
| SYT2synaptotagmin 2 | Ibland (5–29 %) | I 1 tillstånd |
| TACR3tachykinin receptor 3 | Ibland (5–29 %) | I 1 tillstånd |
| TAOK1TAO kinase 1 | Ibland (5–29 %) | I 1 tillstånd |
| TBC1D23TBC1 domain family member 23 | Ibland (5–29 %) | I 1 tillstånd |
| TBX4T-box transcription factor 4 | Ibland (5–29 %) | I 2 tillstånd |
| TET3tet methylcytosine dioxygenase 3 | Ibland (5–29 %) | I 1 tillstånd |
| TGFB1transforming growth factor beta 1 | Ibland (5–29 %) | I 1 tillstånd |
| THSD4thrombospondin type 1 domain containing 4 | Ibland (5–29 %) | I 1 tillstånd |
| TONSLtonsoku like, DNA repair protein | Ibland (5–29 %) | I 1 tillstånd |
| TPM2tropomyosin 2 | Ibland (5–29 %) | I 2 tillstånd |
| TPM3tropomyosin 3 | Ibland (5–29 %) | I 1 tillstånd |
| TRA2Btransformer 2 beta homolog | Ibland (5–29 %) | I 1 tillstånd |
| TRAF7TNF receptor associated factor 7 | 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 |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Ibland (5–29 %) | I 2 tillstånd |
| TTNtitin | Ibland (5–29 %) | I 1 tillstånd |
| UBE2Tubiquitin conjugating enzyme E2 T | Ibland (5–29 %) | I 1 tillstånd |
| USP9Xubiquitin specific peptidase 9 X-linked | Ibland (5–29 %) | I 1 tillstånd |
| WACWW domain containing adaptor with coiled-coil | Ibland (5–29 %) | I 1 tillstånd |
| WBP4WW domain binding protein 4 | Ibland (5–29 %) | I 1 tillstånd |
| WDR11WD repeat domain 11 | Ibland (5–29 %) | I 1 tillstånd |
| XPO1exportin 1 | Ibland (5–29 %) | I 1 tillstånd |
| XRCC2X-ray repair cross complementing 2 | Ibland (5–29 %) | I 1 tillstånd |
| ZEB2zinc finger E-box binding homeobox 2 | Ibland (5–29 %) | I 2 tillstånd |
| ZNF148zinc finger protein 148 | Ibland (5–29 %) | I 1 tillstånd |
| ZNF469zinc finger protein 469 | Ibland (5–29 %) | I 1 tillstånd |
| ADGRV1adhesion G protein-coupled receptor V1 | Sällan (1–4%) | I 1 tillstånd |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Sällan (1–4%) | I 1 tillstånd |
| CLCN4Cl-/H+ antiporter 4 | Sällan (1–4%) | I 1 tillstånd |
| CPA6carboxypeptidase A6 | Sällan (1–4%) | I 1 tillstånd |
| FBLN5fibulin 5 | Sällan (1–4%) | I 1 tillstånd |
| FGF13fibroblast growth factor 13 | Sällan (1–4%) | I 1 tillstånd |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Sällan (1–4%) | I 1 tillstånd |
| GJA5gap junction protein alpha 5 | Sällan (1–4%) | I 1 tillstånd |
| GJA8gap junction protein alpha 8 | Sällan (1–4%) | I 1 tillstånd |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Sällan (1–4%) | I 1 tillstånd |
| MSL2MSL complex subunit 2 | Sällan (1–4%) | I 1 tillstånd |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Sällan (1–4%) | I 2 tillstånd |
| PRRT2proline rich transmembrane protein 2 | Sällan (1–4%) | I 1 tillstånd |
| PTBP1polypyrimidine tract binding protein 1 | Sällan (1–4%) | I 1 tillstånd |
| SLC10A7solute carrier family 10 member 7 | Sällan (1–4%) | I 1 tillstånd |
| SLC32A1solute carrier family 32 member 1 | Sällan (1–4%) | I 1 tillstånd |
| STX1Bsyntaxin 1B | Sällan (1–4%) | I 1 tillstånd |
| AMMECR1AMMECR nuclear protein 1 | Inte registrerat | I 1 tillstånd |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Inte registrerat | I 1 tillstånd |
| ATRATR checkpoint kinase | Inte registrerat | I 1 tillstånd |
| ATRXATRX chromatin remodeler | Inte registrerat | I 1 tillstånd |
| C12orf57chromosome 12 open reading frame 57 | Inte registrerat | I 1 tillstånd |
| CANT1calcium activated nucleotidase 1 | Inte registrerat | I 1 tillstånd |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Inte registrerat | I 1 tillstånd |
| COL2A1collagen type II alpha 1 chain | Inte registrerat | I 1 tillstånd |
| CREBBPCREB binding lysine acetyltransferase | Inte registrerat | I 1 tillstånd |
| CRLF1cytokine receptor like factor 1 | Inte registrerat | I 1 tillstånd |
| EP300EP300 lysine acetyltransferase | Inte registrerat | I 1 tillstånd |
| EXOC6Bexocyst complex component 6B | Inte registrerat | I 1 tillstånd |
| EXT2exostosin glycosyltransferase 2 | Inte registrerat | I 1 tillstånd |
| FOXG1forkhead box G1 | Inte registrerat | I 1 tillstånd |
| GANgigaxonin | Inte registrerat | I 1 tillstånd |
| GDF5growth differentiation factor 5 | Inte registrerat | I 1 tillstånd |
| GDF6growth differentiation factor 6 | Inte registrerat | I 1 tillstånd |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Inte registrerat | I 1 tillstånd |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Inte registrerat | I 1 tillstånd |
| MMP2matrix metallopeptidase 2 | Inte registrerat | I 1 tillstånd |
| PEX6peroxisomal biogenesis factor 6 | Inte registrerat | I 1 tillstånd |
| RAB7ARAB7A, member RAS oncogene family | Inte registrerat | I 1 tillstånd |
| RLIMring finger protein, LIM domain interacting | Inte registrerat | I 1 tillstånd |
| SALL4spalt like transcription factor 4 | Inte registrerat | I 1 tillstånd |
| SIL1SIL1 nucleotide exchange factor | Inte registrerat | I 1 tillstånd |
| SLC39A13solute carrier family 39 member 13 | Inte registrerat | I 1 tillstånd |
| SPRTNSprT-like N-terminal domain | Inte registrerat | I 1 tillstånd |
| STAG2STAG2 cohesin complex component | Inte registrerat | I 1 tillstånd |
| TDO2tryptophan 2,3-dioxygenase | Inte registrerat | I 1 tillstånd |
| TLK2tousled like kinase 2 | Inte registrerat | I 1 tillstånd |
| TRPS1transcriptional repressor GATA binding 1 | Inte registrerat | I 1 tillstånd |
| UCHL1ubiquitin C-terminal hydrolase L1 | Inte registrerat | I 1 tillstånd |
| VPS13Bvacuolar protein sorting 13 homolog B | Inte registrerat | I 1 tillstånd |
| ZDHHC9zDHHC palmitoyltransferase 9 | 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 2026.10.19-9814e911.
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