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Egenskap
Double-Jointed
Kliniskt namn: Joint hypermobility
The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.
Sammanfattning
- Även kallad
- Flexible joints, Increased mobility of joints, Joints move beyond expected range of motion, Lax joints, Loose-jointedness, Extensible joints, Hyperextensible joints, Increased joint mobility, Joint hyperextensibility, Joint hyperflexibility, Joint hyperlaxity, Joint laxity
- Kroppssystem
- Abnormality of the musculoskeletal system
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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/joint-hypermobility.json"
page <- fromJSON(url)
page$trait$nameDouble-JointedHP:0001382
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Läs generna kopplade till Double-Jointed, och resten av ditt genom, med ett enda test.
Från 449 $Fri frakt · Resultat inom 6–8 veckor
Beställ mitt Genome Test205 condition reports read genes linked to this trait
Dante Labs condition reports look at the genes behind groups of inherited conditions, read from one whole-genome test. Each page says which conditions and genes a report covers, how it is read and what it cannot tell you.
- Bardet-Biedl and Alström SyndromesReads 22 of these genesMKS1ARL6BBIP1BBS1BBS10BBS12About this report →
- Ehlers-Danlos SyndromeReads 20 of these genesADAMTS2AEBP1B3GALT6COL12A1COL1A1COL1A2About this report →
- Intellectual DisabilityReads 65 of these genesCDK10CREBBPDCPSEP300IL1RAPL1MED12About this report →
- Noonan SyndromeReads 19 of these genesCBLSHOC2BRAFKRASLZTR1MRASAbout this report →
Show 201 more reports
- Cutis LaxaReads 15 of these genesALDH18A1EFEMP1LTBP4PYCR1RIN2ATP6V0A2About this report →
- Osteogenesis ImperfectaReads 21 of these genesBMP1COL1A1COL1A2CREB3L1FKBP10KDELR2About this report →
- Coffin-Siris SyndromeReads 12 of these genesARID1AARID1BARID2DPF2SMARCA4SMARCB1About this report →
- Marfan Like SyndromesReads 9 of these genesBGNTGFBR2FBN1SKISMAD2SMAD3About this report →
- Loeys-Dietz SyndromeReads 6 of these genesTGFBR2SMAD2SMAD3TGFB2TGFB3TGFBR1About this report →
- Hypertrophic CardiomyopathyReads 19 of these genesNSD1SHOC2BRAFKRASLZTR1MRASAbout this report →
- Epiphyseal and Spondyloepiphyseal DysplasiasReads 7 of these genesCOMPXYLT1COL2A1COL9A1COL9A2COL9A3About this report →
- Periventricular Nodular HeterotopiaReads 5 of these genesFLNAARF1ARFGEF2MAP1BNEDD4LAbout this report →
- Congenital Disorders of GlycosylationReads 21 of these genesATP6AP1B3GALT6DSETMEM165ATP6V0A2GNEAbout this report →
- Achondrogenesis panelReads 4 of these genesTRIP11COL2A1GDF5SLC26A2About this report →
- Overgrowth Syndromes (Sotos, Weaver, Tatton-Brown-Rahman, Malan)Reads 4 of these genesNSD1NFIXDNMT3AEZH2About this report →
- Ellis-van Creveld Syndrome and Cranioectodermal DysplasiaReads 5 of these genesWDR19IFT122IFT43IFT52WDR35About this report →
- VitreoretinopathyReads 9 of these genesCOL2A1COL9A1COL9A2COL9A3LRP5COL11A1About this report →
- Rhabdoid Tumour and SWI/SNF Tumour PredispositionReads 3 of these genesSMARCA4SMARCB1SMARCE1About this report →
- Syndromic CraniosynostosisReads 8 of these genesWDR19FGFR3IFT122IFT43IFT52SKIAbout this report →
- NeurofibromatosisReads 3 of these genesLZTR1NF1SMARCB1About this report →
- FLNB-Related Skeletal Dysplasia (Larsen Spectrum)Reads 2 of these genesGZF1FLNBAbout this report →
- Kabuki SyndromeReads 2 of these genesKDM6AKMT2DAbout this report →
- Aortic AneurysmReads 5 of these genesTGFBR2FBN1TGFB2TGFBR1LOXAbout this report →
- Epilepsy (Full Panel)Reads 18 of these genesIL1RAPL1PIGPPUM1SPTAN1FLNAATP6V1B2About this report →
- Congenital Myasthenic SyndromeReads 6 of these genesALG2ALG14DPAGT1GFPT1GMPPBVAMP1About this report →
- Disorder of Copper MetabolismReads 2 of these genesATP7AATP7BAbout this report →
- Hereditary Arterial CalcificationReads 2 of these genesABCC6ENPP1About this report →
- Hyper-IgE SyndromeReads 3 of these genesIL6STSTAT3ZNF341About this report →
- Congenital Muscular DystrophiesReads 6 of these genesCOL12A1COL6A1TRIP4COL6A2COL6A3GMPPBAbout this report →
- Limb-Girdle Muscular DystrophyReads 6 of these genesCOL6A1COL6A2COL6A3GMPPBLMNATRIM32About this report →
- Other Inborn Errors of ImmunityReads 15 of these genesATP6AP1KRASPIK3R1RMRPC1SCD247About this report →
- Familial Atrial FibrillationReads 2 of these genesGJA5KCNJ2About this report →
- 22q11.2 Deletion SyndromeReads 1 of these genesTBX1About this report →
- Aarskog-Scott SyndromeReads 1 of these genesFGD1About this report →
- ACAN-Related Short StatureReads 1 of these genesACANAbout this report →
- Angelman SyndromeReads 1 of these genesUBE3AAbout this report →
- Au-Kline SyndromeReads 1 of these genesHNRNPKAbout this report →
- Bailey-Bloch Congenital MyopathyReads 1 of these genesSTAC3About this report →
- Beck-Fahrner SyndromeReads 1 of these genesTET3About this report →
- Bryant-Li-Bhoj Neurodevelopmental Syndrome (H3-3A)Reads 1 of these genesH3-3AAbout this report →
- Caffey DiseaseReads 1 of these genesCOL1A1About this report →
- Campomelic DysplasiaReads 1 of these genesSOX9About this report →
- Catel-Manzke SyndromeReads 1 of these genesTGDSAbout this report →
- CEP290-Related CiliopathyReads 1 of these genesCEP290About this report →
- Christianson SyndromeReads 1 of these genesSLC9A6About this report →
- Chung-Jansen Syndrome (PHIP)Reads 1 of these genesPHIPAbout this report →
- Craniofrontonasal SyndromeReads 1 of these genesEFNB1About 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 →
- FAT4-Related Neurodevelopmental DisorderReads 1 of these genesFAT4About 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 →
- Floating-Harbor SyndromeReads 1 of these genesSRCAPAbout this report →
- Focal Dermal Hypoplasia (Goltz Syndrome)Reads 1 of these genesPORCNAbout this report →
- Fragile X SyndromeReads 1 of these genesFMR1About this report →
- GAPO SyndromeReads 1 of these genesANTXR1About this report →
- GM1 Gangliosidosis and Morquio B SyndromeReads 1 of these genesGLB1About this report →
- Hajdu-Cheney SyndromeReads 1 of these genesNOTCH2About this report →
- Hereditary HypospadiasReads 1 of these genesMAMLD1About this report →
- IFT140-Related CiliopathyReads 1 of these genesIFT140About this report →
- Jaberi-Elahi SyndromeReads 1 of these genesGTPBP2About this report →
- JARID2-Related Neurodevelopmental DisorderReads 1 of these genesJARID2About this report →
- Johanson-Blizzard SyndromeReads 1 of these genesUBR1About this report →
- KAT6B-Related DisordersReads 1 of these genesKAT6BAbout this report →
- KCNH1-Related DisorderReads 1 of these genesKCNH1About this report →
- KDM1A-Related Neurodevelopmental DisorderReads 1 of these genesKDM1AAbout this report →
- Marshall-Smith SyndromeReads 1 of these genesNFIXAbout this report →
- Meier-Gorlin Syndrome 3 (ORC6)Reads 1 of these genesORC6About this report →
- Meier-Gorlin Syndrome 4Reads 1 of these genesCDT1About this report →
- Meier-Gorlin Syndrome 7 (CDC45)Reads 1 of these genesCDC45About this report →
- Microcephalic Osteodysplastic Primordial Dwarfism Type IIReads 1 of these genesPCNTAbout this report →
- Mucopolysaccharidosis Type IVA (Morquio A Syndrome)Reads 1 of these genesGALNSAbout this report →
- NGLY1 DeficiencyReads 1 of these genesNGLY1About this report →
- P5CS Deficiency (ALDH18A1-Related)Reads 1 of these genesALDH18A1About this report →
- PIK3R1-Related DisordersReads 1 of these genesPIK3R1About this report →
- POLR3A-Related DisorderReads 1 of these genesPOLR3AAbout this report →
- Primrose SyndromeReads 1 of these genesZBTB20About this report →
- Short-Rib Thoracic Dysplasia 7 (WDR35)Reads 1 of these genesWDR35About this report →
- SLC10A7-Related Skeletal Dysplasia With Amelogenesis ImperfectaReads 1 of these genesSLC10A7About this report →
- Snijders Blok-Campeau SyndromeReads 1 of these genesCHD3About this report →
- Spondyloepimetaphyseal Dysplasia with Joint Laxity Type 3Reads 1 of these genesEXOC6BAbout this report →
- Spondyloepimetaphyseal Dysplasia, Genevieve TypeReads 1 of these genesNANSAbout this report →
- Spondyloepiphyseal Dysplasia With Congenital Joint DislocationsReads 1 of these genesCHST3About this report →
- SPTBN1-Related Neurodevelopmental DisorderReads 1 of these genesSPTBN1About this report →
- TANC2-Related Neurodevelopmental DisorderReads 1 of these genesTANC2About this report →
- TRIM8-Related Neurodevelopmental and Kidney DisorderReads 1 of these genesTRIM8About this report →
- Turnpenny-Fry SyndromeReads 1 of these genesPCGF2About this report →
- Wiedemann-Steiner SyndromeReads 1 of these genesKMT2AAbout this report →
- Wilson DiseaseReads 1 of these genesATP7BAbout this report →
- You-Hoover-Fong Syndrome (TELO2)Reads 1 of these genesTELO2About this report →
- ZTTK SyndromeReads 1 of these genesSONAbout this report →
- Joubert Syndrome And Related DisordersReads 6 of these genesMKS1CEP104CEP290NPHP1TOGARAM1TCTN3About this report →
- Charcot-Marie-Tooth DiseaseReads 8 of these genesMARS1SPTAN1ATP7AEMILIN1FBLN5YARS1About this report →
- GPI Anchor Biosynthesis DefectsReads 4 of these genesPIGPPIGGPIGSPIGTAbout this report →
- Lissencephaly Spectrum DisordersReads 4 of these genesAPC2TMTC3RAB3GAP1RAB3GAP2About this report →
- Syndromic Complex Neurodevelopmental DisorderReads 4 of these genesZFXANKRD17TRAF7ZMYM2About this report →
- Inherited Neurodegenerative DisordersReads 16 of these genesALDH18A1DNM1LPEX2PUM1SPTAN1TRIP4About this report →
- Retinitis PigmentosaReads 7 of these genesIFT140IFT43ARL6BBS2CFAP418IFT172About this report →
- Lysosomal Storage DiseaseReads 6 of these genesGNEMAN2B1CTSKAGAGALNSGLB1About this report →
- Alpha-Mannosidosis and Other GlycoproteinosesReads 2 of these genesMAN2B1AGAAbout this report →
- IPEX Syndrome and Other TregopathiesReads 2 of these genesIL2RAIL2RBAbout this report →
- Rare Hereditary Peripheral NeuropathiesReads 11 of these genesIARS2MARS1PEX2SPTAN1ATP7AGANAbout this report →
- Activated PI3K-Delta Syndrome (APDS)Reads 1 of these genesPIK3R1About this report →
- Alagille SyndromeReads 1 of these genesNOTCH2About this report →
- Cerebral Arteriopathy with Subcortical Infarcts and LeukoencephalopathyReads 1 of these genesNOTCH3About this report →
- Cowden Syndrome (PTEN hamartoma tumour syndrome)Reads 1 of these genesPTENAbout this report →
- Dent Disease and Lowe SyndromeReads 1 of these genesOCRLAbout this report →
- DOORS SyndromeReads 1 of these genesATP6V1B2About this report →
- Encephalopathy due to Mitochondrial and Peroxisomal Fission DefectReads 1 of these genesDNM1LAbout this report →
- Hereditary Gingival FibromatosisReads 1 of these genesSOS1About this report →
- Hereditary Multiple OsteochondromasReads 1 of these genesEXT1About this report →
- Malignant Hyperthermia SusceptibilityReads 1 of these genesRYR1About this report →
- Nevoid Basal Cell Carcinoma (Gorlin) SyndromeReads 1 of these genesPTCH1About this report →
- Otospondylomegaepiphyseal Dysplasia (OSMED)Reads 1 of these genesCOL2A1About this report →
- Pseudoxanthoma ElasticumReads 1 of these genesABCC6About this report →
- STAT1 and STAT3 Gain-of-Function DiseaseReads 1 of these genesSTAT3About this report →
- TRIP11-Related Skeletal DysplasiaReads 1 of these genesTRIP11About this report →
- Congenital MyopathiesReads 3 of these genesMAP3K20RYR1MTM1About this report →
- Nephronophthisis and Senior-Løken SyndromeReads 3 of these genesWDR19NPHP1SDCCAG8About this report →
- Cerebral Creatine Deficiency SyndromesReads 1 of these genesSLC6A8About this report →
- Familial Periodic ParalysisReads 1 of these genesKCNJ2About this report →
- Hirschsprung Disease & Related Enteric NeurocristopathiesReads 1 of these genesRETAbout this report →
- Immuno-Osseous DysplasiasReads 1 of these genesRMRPAbout this report →
- Monogenic Early-Onset OsteoporosisReads 1 of these genesWNT1About this report →
- Monogenic Precocious PubertyReads 1 of these genesDLK1About this report →
- Microphthalmia, Anophthalmia & ColobomaReads 3 of these genesRAB3GAP1OTX2RAB3GAP2About this report →
- Spinal Muscular AtrophyReads 3 of these genesSPTAN1ATP7AEMILIN1About this report →
- Inherited Congenital Heart DefectsReads 2 of these genesFLNAELNAbout this report →
- Myofibrillar MyopathiesReads 2 of these genesPYROXD1RYR1About this report →
- Diabetes MellitusReads 3 of these genesIL2RAZBTB20HNF1BAbout this report →
- OsteopetrosisReads 2 of these genesLRP5CTSKAbout this report →
- Complex Cortical Dysplasia and Frontoparietal PolymicrogyriaReads 2 of these genesAPC2TUBB3About this report →
- Inherited ThrombocytopeniasReads 3 of these genesRAP1BGNEGP1BBAbout this report →
- Complex Neurodevelopmental Disorder (TRRAP, MYH10, RERE, SOX11)Reads 1 of these genesSOX11About this report →
- Multiple Synostoses Syndrome (FGF9)Reads 1 of these genesGDF5About this report →
- Polycystic Liver Disease (1 and 2)Reads 1 of these genesLRP5About this report →
- Pseudohypoparathyroidism & GNAS-Inactivation DisordersReads 1 of these genesPDE4DAbout this report →
- Short Qt SyndromeReads 1 of these genesKCNJ2About this report →
- TubulinopathiesReads 1 of these genesTUBB3About this report →
- Autosomal Recessive Primary MicrocephalyReads 2 of these genesCEP152CPAPAbout this report →
- Neonatal Diabetes MellitusReads 2 of these genesIL2RAHNF1BAbout this report →
- Autosomal Dominant Tubulointerstitial Kidney DiseaseReads 1 of these genesHNF1BAbout this report →
- MTOR Pathway Megalencephaly and Overgrowth DisordersReads 1 of these genesPIK3CAAbout this report →
- Sclerosing Bone Dysplasias (High Bone Mass)Reads 1 of these genesLRP5About this report →
- Autoimmune DiseaseReads 2 of these genesKRASSTAT3About this report →
- Hypogonadotropic HypogonadismReads 3 of these genesTCF12OTX2RAB3GAP2About this report →
- Chronic Granulomatous DiseaseReads 1 of these genesNCF1About this report →
- Cornelia de Lange SyndromeReads 1 of these genesRAD21About this report →
- Hereditary Visceral Myopathy, CIPO & MMIHSReads 1 of these genesFLNAAbout this report →
- Heritable Pulmonary Arterial Hypertension (HPAH)Reads 1 of these genesKCNK3About this report →
- Rare Inherited Bone Marrow Failure SyndromesReads 1 of these genesDNAJC21About this report →
- Surfactant Metabolism DysfunctionReads 1 of these genesMARS1About this report →
- Pelizaeus-Merzbacher Disease & Hypomyelinating LeukodystrophiesReads 2 of these genesPOLR3APYCR2About this report →
- Non-Acquired Combined Pituitary Hormone DeficiencyReads 2 of these genesPTCH1OTX2About this report →
- Autoimmune Lymphoproliferative Syndrome (ALPS)Reads 1 of these genesKRASAbout this report →
- Congenital Cranial Dysinnervation DisordersReads 1 of these genesTUBB3About this report →
- Monogenic Obesity (Leptin-Melanocortin Pathway)Reads 1 of these genesCEP19About this report →
- Hereditary Spastic ParaplegiaReads 3 of these genesALDH18A1SPTAN1SPARTAbout this report →
- Disorders of Glycine & Serine MetabolismReads 1 of these genesSLC6A9About this report →
- GlaucomaReads 1 of these genesEFEMP1About this report →
- GlomerulosclerosisReads 1 of these genesPAX2About this report →
- Hereditary Rickets (Hypophosphatemic and Vitamin D-Dependent)Reads 1 of these genesENPP1About this report →
- Hereditary Sideroblastic AnaemiasReads 1 of these genesPUS1About this report →
- Malignant Endocrine NeoplasmReads 1 of these genesRETAbout this report →
- Progressive Cardiac Conduction Disease & Sick Sinus SyndromeReads 1 of these genesLMNAAbout this report →
- Purine & Pyrimidine Metabolism DisordersReads 1 of these genesDPYDAbout this report →
- Other Inherited LeukodystrophiesReads 3 of these genesPEX2POLR3APYCR2About this report →
- Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)Reads 2 of these genesPUM1ATN1About this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 2 of these genesTAF1COL6A3About this report →
- Autism Spectrum DisorderReads 1 of these genesTBR1About this report →
- Imprinting Disorders: Prader-Willi, Silver-Russell and Beckwith-WiedemannReads 1 of these genesNSD1About this report →
- Inherited Platelet Function DisordersReads 1 of these genesGP1BBAbout this report →
- Agammaglobulinaemia (XLA and Autosomal Forms)Reads 1 of these genesPIK3R1About this report →
- Focal Segmental GlomerulosclerosisReads 1 of these genesPAX2About this report →
- Hereditary Macular DystrophiesReads 1 of these genesEFEMP1About this report →
- Hereditary Pheochromocytoma and ParagangliomaReads 1 of these genesRETAbout this report →
- Long QT SyndromeReads 1 of these genesKCNJ2About this report →
- Meckel SyndromeReads 1 of these genesMKS1About this report →
- BH4 Deficiency & Monoamine Neurotransmitter DisordersReads 1 of these genesDBHAbout this report →
- Congenital Anomalies of the Kidney and Urinary TractReads 1 of these genesPAX2About this report →
- HyperinsulinismReads 1 of these genesPMM2About this report →
- Polycystic Kidney DiseaseReads 1 of these genesIFT140About this report →
- LipodystrophyReads 1 of these genesLMNAAbout this report →
- Maturity-Onset Diabetes Of The YoungReads 1 of these genesHNF1BAbout this report →
- Urinary and Renal System TumourReads 1 of these genesRETAbout this report →
- Dilated CardiomyopathyReads 2 of these genesRAF1LMNAAbout this report →
- Hereditary Optic NeuropathyReads 1 of these genesDNM1LAbout this report →
- Zellweger Spectrum & Peroxisome Biogenesis DisordersReads 1 of these genesPEX2About this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 2 of these genesMKS1CEP290About this report →
- Monogenic Hypertension & Mineralocorticoid DisordersReads 1 of these genesKCNJ5About this report →
- Primary Lymphoedema & Lymphatic MalformationsReads 1 of these genesFAT4About this report →
- Inherited Complement and Properdin DeficienciesReads 1 of these genesC1SAbout this report →
- Distal MyopathiesReads 1 of these genesGNEAbout this report →
- Leber Congenital Amaurosis & RPE65-Related RetinopathyReads 1 of these genesCEP290About this report →
- Inherited IchthyosesReads 1 of these genesNSDHLAbout this report →
- Hearing Loss and DeafnessReads 2 of these genesMAP1BCOL11A1About this report →
- Nephrotic SyndromeReads 1 of these genesNUP85About this report →
- Thyroid CancerReads 1 of these genesRETAbout this report →
- Severe Combined ImmunodeficiencyReads 1 of these genesCD247About this report →
- Rare Monogenic Autoinflammatory DiseasesReads 1 of these genesPTPN2About this report →
- Primary Mitochondrial DiseaseReads 2 of these genesDNA2DNAJC30About this report →
- DNA Repair DiseaseReads 1 of these genesMRE11About this report →
- Male InfertilityReads 1 of these genesFKBP6About this report →
- Female InfertilityReads 1 of these genesFMR1About this report →
Läs generna kopplade till Double-Jointed, och resten av ditt genom, med ett enda test.
Från 449 $Fri frakt · Resultat inom 6–8 veckor
Beställ mitt Genome Test515 gener kopplade till Double-Jointed
Förändringar i dessa gener orsakar sällsynta tillstånd där Double-Jointed 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 |
|---|---|---|
| ACANaggrecan | Alltid | I 2 tillstånd |
| ADAMTS2ADAM metallopeptidase with thrombospondin type 1 motif 2 | Alltid | I 2 tillstånd |
| AEBP1AE binding protein 1 | Alltid | I 2 tillstånd |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Alltid | I 4 tillstånd |
| ATP6AP1ATPase H+ transporting accessory protein 1 | Alltid | I 1 tillstånd |
| B3GALT6beta-1,3-galactosyltransferase 6 | Alltid | I 3 tillstånd |
| BMP1bone morphogenetic protein 1 | Alltid | I 1 tillstånd |
| CANT1calcium activated nucleotidase 1 | Alltid | I 2 tillstånd |
| CBLCbl proto-oncogene | Alltid | I 2 tillstånd |
| CCNQcyclin Q | Alltid | I 1 tillstånd |
| CDK10cyclin dependent kinase 10 | Alltid | I 1 tillstånd |
| CILK1ciliogenesis associated kinase 1 | Alltid | I 1 tillstånd |
| COL12A1collagen type XII alpha 1 chain | Alltid | I 3 tillstånd |
| COL1A1collagen type I alpha 1 chain | Alltid | I 4 tillstånd |
| COL1A2collagen type I alpha 2 chain | Alltid | I 4 tillstånd |
| COL3A1collagen type III alpha 1 chain | Alltid | I 4 tillstånd |
| COL5A2collagen type V alpha 2 chain | Alltid | I 1 tillstånd |
| COL6A1collagen type VI alpha 1 chain | Alltid | I 2 tillstånd |
| CREB3L1cAMP responsive element binding protein 3 like 1 | Alltid | I 1 tillstånd |
| CREBBPCREB binding lysine acetyltransferase | Alltid | I 4 tillstånd |
| DCPSdecapping enzyme, scavenger | Alltid | I 1 tillstånd |
| DNM1Ldynamin 1L | Alltid | I 1 tillstånd |
| DSEdermatan sulfate epimerase | Alltid | I 1 tillstånd |
| EFEMP1EGF-like fibulin extracellular matrix protein 1 | Alltid | I 1 tillstånd |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Alltid | I 1 tillstånd |
| EN1engrailed homeobox 1 | Alltid | I 1 tillstånd |
| EP300EP300 lysine acetyltransferase | Alltid | I 3 tillstånd |
| EXOC6Bexocyst complex component 6B | Alltid | I 1 tillstånd |
| FARSAphenylalanyl-tRNA synthetase subunit alpha | Alltid | I 1 tillstånd |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Alltid | I 1 tillstånd |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Alltid | I 2 tillstånd |
| FKBP10FKBP prolyl isomerase 10 | Alltid | I 2 tillstånd |
| GINS3GINS complex subunit 3 | Alltid | I 1 tillstånd |
| GTPBP2GTP binding protein 2 | Alltid | I 1 tillstånd |
| GZF1GDNF inducible zinc finger protein 1 | Alltid | I 1 tillstånd |
| HEPHL1hephaestin like 1 | Alltid | I 1 tillstånd |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Alltid | I 2 tillstånd |
| IARS1isoleucyl-tRNA synthetase 1 | Alltid | I 2 tillstånd |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Alltid | I 1 tillstånd |
| IFT140intraflagellar transport 140 | Alltid | I 1 tillstånd |
Visa 475 gener till
| Gen | Hur ofta den förekommer | Tillstånd |
|---|---|---|
| IFT56intraflagellar transport 56 | Alltid | I 1 tillstånd |
| IL1RAPL1interleukin 1 receptor accessory protein like 1 | Alltid | I 1 tillstånd |
| KCNK3potassium two pore domain channel subfamily K member 3 | Alltid | I 1 tillstånd |
| KDELR2KDEL endoplasmic reticulum protein retention receptor 2 | Alltid | I 1 tillstånd |
| LRRC7leucine rich repeat containing 7 | Alltid | I 1 tillstånd |
| LTBP4latent transforming growth factor beta binding protein 4 | Alltid | I 1 tillstånd |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Alltid | I 1 tillstånd |
| MARS1methionyl-tRNA synthetase 1 | Alltid | I 1 tillstånd |
| MED12mediator complex subunit 12 | Alltid | I 3 tillstånd |
| NOTCH3notch receptor 3 | Alltid | I 2 tillstånd |
| NSD1nuclear receptor binding SET domain protein 1 | Alltid | I 3 tillstånd |
| PEX2peroxisomal biogenesis factor 2 | Alltid | I 1 tillstånd |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Alltid | I 1 tillstånd |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Alltid | I 2 tillstånd |
| POLR1ARNA polymerase I subunit A | Alltid | I 1 tillstånd |
| PPFIA3PPFI scaffold protein A3 | Alltid | I 1 tillstånd |
| PRDM5PR/SET domain 5 | Alltid | I 2 tillstånd |
| PTDSS1phosphatidylserine synthase 1 | Alltid | I 2 tillstånd |
| PUM1pumilio RNA binding family member 1 | Alltid | I 1 tillstånd |
| PYCR1pyrroline-5-carboxylate reductase 1 | Alltid | I 2 tillstånd |
| RAP1BRAP1B, member of RAS oncogene family | Alltid | I 1 tillstånd |
| RAP1GDS1Rap1 GTPase-GDP dissociation stimulator 1 | Alltid | I 1 tillstånd |
| RIN2Ras and Rab interactor 2 | Alltid | I 2 tillstånd |
| RMP64ribonuclease MRP subunit p64 | Alltid | I 1 tillstånd |
| SCAF4SR-related CTD associated factor 4 | Alltid | I 1 tillstånd |
| SCARF2scavenger receptor class F member 2 | Alltid | I 1 tillstånd |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Alltid | I 1 tillstånd |
| SOBPsine oculis binding protein homolog | Alltid | I 1 tillstånd |
| SPARCsecreted protein acidic and cysteine rich | Alltid | I 1 tillstånd |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Alltid | I 2 tillstånd |
| TAF4TATA-box binding protein associated factor 4 | Alltid | I 1 tillstånd |
| TENT5Aterminal nucleotidyltransferase 5A | Alltid | I 1 tillstånd |
| TGDSTDP-glucose 4,6-dehydratase | Alltid | I 2 tillstånd |
| THBS2thrombospondin 2 | Alltid | I 1 tillstånd |
| TMEM165transmembrane protein 165 | Alltid | I 1 tillstånd |
| TNXBtenascin XB | Alltid | I 2 tillstånd |
| TRIP4thyroid hormone receptor interactor 4 | Alltid | I 2 tillstånd |
| VPS13Bvacuolar protein sorting 13 homolog B | Alltid | I 2 tillstånd |
| VPS37AVPS37A subunit of ESCRT-I | Alltid | I 2 tillstånd |
| WDR19WD repeat domain 19 | Alltid | I 2 tillstånd |
| WSB2WD repeat and SOCS box containing 2 | Alltid | I 1 tillstånd |
| ZFXzinc finger protein X-linked | Alltid | I 1 tillstånd |
| ZMYM3zinc finger MYM-type containing 3 | Alltid | I 1 tillstånd |
| ADAMTSL2ADAMTS like 2 | Mycket ofta (80–99 %) | I 1 tillstånd |
| AHDC1AT-hook DNA binding motif containing 1 | Mycket ofta (80–99 %) | I 2 tillstånd |
| ANTXR1ANTXR cell adhesion molecule 1 | Mycket ofta (80–99 %) | I 2 tillstånd |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Mycket ofta (80–99 %) | I 2 tillstånd |
| ATP7AATPase copper transporting alpha | Mycket ofta (80–99 %) | I 4 tillstånd |
| BCL11ABCL11 transcription factor A | Mycket ofta (80–99 %) | I 1 tillstånd |
| BGNbiglycan | Mycket ofta (80–99 %) | I 2 tillstånd |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Mycket ofta (80–99 %) | I 2 tillstånd |
| CDC45cell division cycle 45 | Mycket ofta (80–99 %) | I 2 tillstånd |
| CDC6cell division cycle 6 | Mycket ofta (80–99 %) | I 1 tillstånd |
| CDT1chromatin licensing and DNA replication factor 1 | Mycket ofta (80–99 %) | I 1 tillstånd |
| COMPcartilage oligomeric matrix protein | Mycket ofta (80–99 %) | I 2 tillstånd |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Mycket ofta (80–99 %) | I 2 tillstånd |
| CUL7cullin 7 | Mycket ofta (80–99 %) | I 2 tillstånd |
| DLK1delta like non-canonical Notch ligand 1 | Mycket ofta (80–99 %) | I 3 tillstånd |
| FGFR3fibroblast growth factor receptor 3 | Mycket ofta (80–99 %) | I 2 tillstånd |
| FKBP14FKBP prolyl isomerase 14 | Mycket ofta (80–99 %) | I 1 tillstånd |
| FLNAfilamin A | Mycket ofta (80–99 %) | I 5 tillstånd |
| FLNBfilamin B | Mycket ofta (80–99 %) | I 2 tillstånd |
| FMR1fragile X messenger ribonucleoprotein 1 | Mycket ofta (80–99 %) | I 2 tillstånd |
| GANgigaxonin | Mycket ofta (80–99 %) | I 1 tillstånd |
| GMNNgeminin DNA replication inhibitor | Mycket ofta (80–99 %) | I 1 tillstånd |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Mycket ofta (80–99 %) | I 1 tillstånd |
| GORABgolgin, RAB6 interacting | Mycket ofta (80–99 %) | I 1 tillstånd |
| KIF22kinesin family member 22 | Mycket ofta (80–99 %) | I 2 tillstånd |
| KRASKRas proto-oncogene, GTPase | Mycket ofta (80–99 %) | I 1 tillstånd |
| LZTR1leucine zipper like post translational regulator 1 | Mycket ofta (80–99 %) | I 1 tillstånd |
| MEG3maternally expressed 3 | Mycket ofta (80–99 %) | I 3 tillstånd |
| MRASmuscle RAS oncogene homolog | Mycket ofta (80–99 %) | I 1 tillstånd |
| NFIXnuclear factor I X | Mycket ofta (80–99 %) | I 1 tillstånd |
| NKAPNFKB activating protein | Mycket ofta (80–99 %) | I 1 tillstånd |
| NRASNRAS proto-oncogene, GTPase | Mycket ofta (80–99 %) | I 1 tillstånd |
| ORC1origin recognition complex subunit 1 | Mycket ofta (80–99 %) | I 2 tillstånd |
| ORC4origin recognition complex subunit 4 | Mycket ofta (80–99 %) | I 2 tillstånd |
| ORC6origin recognition complex subunit 6 | Mycket ofta (80–99 %) | I 1 tillstånd |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Mycket ofta (80–99 %) | I 2 tillstånd |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Mycket ofta (80–99 %) | I 1 tillstånd |
| PUF60poly(U) binding splicing factor 60 | Mycket ofta (80–99 %) | I 2 tillstånd |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Mycket ofta (80–99 %) | I 1 tillstånd |
| RASA2RAS p21 protein activator 2 | Mycket ofta (80–99 %) | I 1 tillstånd |
| RIT1Ras like without CAAX 1 | Mycket ofta (80–99 %) | I 1 tillstånd |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Mycket ofta (80–99 %) | I 4 tillstånd |
| RPS6KA3ribosomal protein S6 kinase A3 | Mycket ofta (80–99 %) | I 1 tillstånd |
| RRASRAS related | Mycket ofta (80–99 %) | I 1 tillstånd |
| RRAS2RAS related 2 | Mycket ofta (80–99 %) | I 1 tillstånd |
| RTL1retrotransposon Gag like 1 | Mycket ofta (80–99 %) | I 3 tillstånd |
| SLC2A10solute carrier family 2 member 10 | Mycket ofta (80–99 %) | I 2 tillstånd |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Mycket ofta (80–99 %) | I 1 tillstånd |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Mycket ofta (80–99 %) | I 1 tillstånd |
| SPRED2sprouty related EVH1 domain containing 2 | Mycket ofta (80–99 %) | I 1 tillstånd |
| TGFBR2transforming growth factor beta receptor 2 | Mycket ofta (80–99 %) | I 2 tillstånd |
| TRIP11thyroid hormone receptor interactor 11 | Mycket ofta (80–99 %) | I 2 tillstånd |
| XYLT1xylosyltransferase 1 | Mycket ofta (80–99 %) | I 3 tillstånd |
| ZNF469zinc finger protein 469 | Mycket ofta (80–99 %) | I 2 tillstånd |
| ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase | Ofta (30–79 %) | I 1 tillstånd |
| ADGRL1adhesion G protein-coupled receptor L1 | Ofta (30–79 %) | I 1 tillstånd |
| ADNPactivity dependent neuroprotector homeobox | Ofta (30–79 %) | I 2 tillstånd |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Ofta (30–79 %) | I 2 tillstånd |
| ANKRD17ankyrin repeat domain 17 | Ofta (30–79 %) | I 1 tillstånd |
| ANKRD55ankyrin repeat domain 55 | Ofta (30–79 %) | I 1 tillstånd |
| AP1G1adaptor related protein complex 1 subunit gamma 1 | Ofta (30–79 %) | I 1 tillstånd |
| APC2APC regulator of Wnt signaling pathway 2 | Ofta (30–79 %) | I 1 tillstånd |
| ARCN1archain 1 coat protein complex I subunit delta | Ofta (30–79 %) | I 1 tillstånd |
| ARF1ARF GTPase 1 | Ofta (30–79 %) | I 1 tillstånd |
| ARFGEF2ARF guanine nucleotide exchange factor 2 | Ofta (30–79 %) | I 1 tillstånd |
| ARID1AAT-rich interaction domain 1A | 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 |
| ASPHaspartate beta-hydroxylase | Ofta (30–79 %) | I 1 tillstånd |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Ofta (30–79 %) | I 1 tillstånd |
| ATRATR checkpoint kinase | Ofta (30–79 %) | I 1 tillstånd |
| ATRIPATR interacting protein | Ofta (30–79 %) | I 1 tillstånd |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Ofta (30–79 %) | I 1 tillstånd |
| C1Rcomplement C1r | Ofta (30–79 %) | I 2 tillstånd |
| C1Scomplement C1s | Ofta (30–79 %) | I 2 tillstånd |
| CCDC8coiled-coil domain containing 8 subunit of 3M complex | Ofta (30–79 %) | I 2 tillstånd |
| CD247CD247 molecule | Ofta (30–79 %) | I 1 tillstånd |
| CDK13cyclin dependent kinase 13 | Ofta (30–79 %) | I 1 tillstånd |
| CENPEcentromere protein E | Ofta (30–79 %) | I 1 tillstånd |
| CEP152centrosomal protein 152 | Ofta (30–79 %) | I 1 tillstånd |
| CEP295centrosomal protein 295 | Ofta (30–79 %) | I 1 tillstånd |
| CEP63centrosomal protein 63 | Ofta (30–79 %) | I 1 tillstånd |
| CHAMP1chromosome alignment maintaining phosphoprotein 1 | Ofta (30–79 %) | I 1 tillstånd |
| CHD3chromodomain helicase DNA binding protein 3 | Ofta (30–79 %) | I 1 tillstånd |
| CHST3carbohydrate sulfotransferase 3 | Ofta (30–79 %) | I 1 tillstånd |
| COL2A1collagen type II alpha 1 chain | Ofta (30–79 %) | I 2 tillstånd |
| COL5A1collagen type V alpha 1 chain | Ofta (30–79 %) | I 2 tillstånd |
| COL9A1collagen type IX alpha 1 chain | Ofta (30–79 %) | I 1 tillstånd |
| COL9A2collagen type IX alpha 2 chain | Ofta (30–79 %) | I 1 tillstånd |
| COL9A3collagen type IX alpha 3 chain | Ofta (30–79 %) | I 1 tillstånd |
| CPAPcentrosome assembly and centriole elongation protein | Ofta (30–79 %) | I 1 tillstånd |
| DBHdopamine beta-hydroxylase | Ofta (30–79 %) | I 1 tillstånd |
| DDB1damage specific DNA binding protein 1 | Ofta (30–79 %) | I 1 tillstånd |
| DEAF1DEAF1 transcription factor | Ofta (30–79 %) | I 1 tillstånd |
| DHX30DExH-box helicase 30 | Ofta (30–79 %) | I 1 tillstånd |
| DLG4discs large MAGUK scaffold protein 4 | Ofta (30–79 %) | I 1 tillstånd |
| DNA2DNA replication helicase/nuclease 2 | Ofta (30–79 %) | I 1 tillstånd |
| DPF2double PHD fingers 2 | Ofta (30–79 %) | I 1 tillstånd |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Ofta (30–79 %) | I 2 tillstånd |
| EFNB1ephrin B1 | Ofta (30–79 %) | I 2 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 |
| ERMARDER membrane associated RNA degradation | Ofta (30–79 %) | I 2 tillstånd |
| EXT1exostosin glycosyltransferase 1 | Ofta (30–79 %) | I 1 tillstånd |
| FBLN5fibulin 5 | Ofta (30–79 %) | I 4 tillstånd |
| FBN1fibrillin 1 | Ofta (30–79 %) | I 4 tillstånd |
| FERRY3FERRY endosomal RAB5 effector complex subunit 3 | Ofta (30–79 %) | I 1 tillstånd |
| H4C9H4 clustered histone 9 | Ofta (30–79 %) | I 1 tillstånd |
| HDAC4histone deacetylase 4 | Ofta (30–79 %) | I 1 tillstånd |
| HNRNPH1heterogeneous nuclear ribonucleoprotein H1 | Ofta (30–79 %) | I 1 tillstånd |
| HOXD13homeobox D13 | Ofta (30–79 %) | I 1 tillstånd |
| HRASHRas proto-oncogene, GTPase | Ofta (30–79 %) | I 1 tillstånd |
| IFT122intraflagellar transport 122 | Ofta (30–79 %) | I 2 tillstånd |
| IFT43intraflagellar transport 43 | Ofta (30–79 %) | I 2 tillstånd |
| IFT52intraflagellar transport 52 | Ofta (30–79 %) | I 1 tillstånd |
| IL2RAinterleukin 2 receptor subunit alpha | Ofta (30–79 %) | I 1 tillstånd |
| IL2RBinterleukin 2 receptor subunit beta | Ofta (30–79 %) | I 1 tillstånd |
| IL6STinterleukin 6 cytokine family signal transducer | Ofta (30–79 %) | I 1 tillstånd |
| IPO8importin 8 | Ofta (30–79 %) | I 2 tillstånd |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Ofta (30–79 %) | I 1 tillstånd |
| KAT6Blysine acetyltransferase 6B | Ofta (30–79 %) | I 1 tillstånd |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Ofta (30–79 %) | I 1 tillstånd |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Ofta (30–79 %) | I 1 tillstånd |
| KDM1Alysine demethylase 1A | Ofta (30–79 %) | I 1 tillstånd |
| KDM3Blysine demethylase 3B | Ofta (30–79 %) | I 1 tillstånd |
| KDM6Alysine demethylase 6A | Ofta (30–79 %) | I 3 tillstånd |
| KDM6Blysine demethylase 6B | Ofta (30–79 %) | I 1 tillstånd |
| KMT2Dlysine methyltransferase 2D | Ofta (30–79 %) | I 2 tillstånd |
| LBRlamin B receptor | Ofta (30–79 %) | I 1 tillstånd |
| LONP1lon peptidase 1, mitochondrial | Ofta (30–79 %) | I 1 tillstånd |
| LOXL3lysyl oxidase like 3 | Ofta (30–79 %) | I 1 tillstånd |
| LRP5LDL receptor related protein 5 | Ofta (30–79 %) | I 2 tillstånd |
| LTBP1latent transforming growth factor beta binding protein 1 | Ofta (30–79 %) | I 2 tillstånd |
| MAN1B1mannosidase alpha class 1B member 1 | Ofta (30–79 %) | I 2 tillstånd |
| MAP1Bmicrotubule associated protein 1B | Ofta (30–79 %) | I 1 tillstånd |
| MAP2K2mitogen-activated protein kinase kinase 2 | Ofta (30–79 %) | I 1 tillstånd |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Ofta (30–79 %) | I 1 tillstånd |
| MKS1MKS transition zone complex subunit 1 | Ofta (30–79 %) | I 2 tillstånd |
| MLXIPLMLX interacting protein like | Ofta (30–79 %) | I 1 tillstånd |
| NAE1NEDD8 activating enzyme E1 subunit 1 | Ofta (30–79 %) | I 1 tillstånd |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Ofta (30–79 %) | I 1 tillstånd |
| NF1neurofibromin 1 | Ofta (30–79 %) | I 1 tillstånd |
| NINninein | Ofta (30–79 %) | I 1 tillstånd |
| NOTCH2notch receptor 2 | Ofta (30–79 %) | I 2 tillstånd |
| NPR2natriuretic peptide receptor 2 | Ofta (30–79 %) | I 2 tillstånd |
| NPR3natriuretic peptide receptor 3 | Ofta (30–79 %) | I 1 tillstånd |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Ofta (30–79 %) | I 2 tillstånd |
| NSMCE2NSE2 SUMO ligase component of SMC5/6 complex | Ofta (30–79 %) | I 1 tillstånd |
| NUP85nucleoporin 85 | Ofta (30–79 %) | I 1 tillstånd |
| OBSL1obscurin like cytoskeletal adaptor 1 | Ofta (30–79 %) | I 1 tillstånd |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Ofta (30–79 %) | I 2 tillstånd |
| P3H1prolyl 3-hydroxylase 1 | Ofta (30–79 %) | I 1 tillstånd |
| PCGF2polycomb group ring finger 2 | Ofta (30–79 %) | I 1 tillstånd |
| PCNTpericentrin | Ofta (30–79 %) | I 2 tillstånd |
| PGM2L1phosphoglucomutase 2 like 1 | Ofta (30–79 %) | I 1 tillstånd |
| PGM3phosphoglucomutase 3 | Ofta (30–79 %) | I 1 tillstånd |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Ofta (30–79 %) | I 1 tillstånd |
| PIGSphosphatidylinositol glycan anchor biosynthesis class S | Ofta (30–79 %) | I 1 tillstånd |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Ofta (30–79 %) | I 2 tillstånd |
| PLK4polo like kinase 4 | Ofta (30–79 %) | I 1 tillstånd |
| PMM2phosphomannomutase 2 | Ofta (30–79 %) | I 1 tillstånd |
| POLR3ARNA polymerase III subunit A | Ofta (30–79 %) | I 1 tillstånd |
| POLR3GLRNA polymerase III subunit GL | Ofta (30–79 %) | I 1 tillstånd |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Ofta (30–79 %) | I 1 tillstånd |
| PTCH1patched 1 | Ofta (30–79 %) | I 1 tillstånd |
| PTENphosphatase and tensin homolog | Ofta (30–79 %) | I 2 tillstånd |
| PTHLHparathyroid hormone like hormone | Ofta (30–79 %) | I 1 tillstånd |
| PTPN2protein tyrosine phosphatase non-receptor type 2 | Ofta (30–79 %) | I 1 tillstånd |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Ofta (30–79 %) | I 1 tillstånd |
| PUS1pseudouridine synthase 1 | Ofta (30–79 %) | I 1 tillstånd |
| PYROXD1pyridine nucleotide-disulphide oxidoreductase domain 1 | Ofta (30–79 %) | I 1 tillstånd |
| RAD21RAD21 cohesin complex component | Ofta (30–79 %) | I 1 tillstånd |
| RAI1retinoic acid induced 1 | Ofta (30–79 %) | I 1 tillstånd |
| RBBP8RB binding protein 8, endonuclease | Ofta (30–79 %) | I 1 tillstånd |
| RECQLRecQ like helicase | Ofta (30–79 %) | I 1 tillstånd |
| RNU5B-1RNA, U5B small nuclear 1 | Ofta (30–79 %) | I 1 tillstånd |
| ROR2ROR family WNT receptor 2 | Ofta (30–79 %) | I 1 tillstånd |
| RUSC2RUN and SH3 domain containing 2 | Ofta (30–79 %) | I 1 tillstånd |
| RYR1ryanodine receptor 1 | Ofta (30–79 %) | I 5 tillstånd |
| SEC23ASEC23 homolog A, COPII component | Ofta (30–79 %) | I 2 tillstånd |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Ofta (30–79 %) | I 1 tillstånd |
| SETD1ASET domain containing 1A, histone lysine methyltransferase | Ofta (30–79 %) | I 1 tillstånd |
| SIN3ASIN3 transcription regulator family member A | Ofta (30–79 %) | I 3 tillstånd |
| SIN3BSIN3 transcription regulator family member B | Ofta (30–79 %) | I 1 tillstånd |
| SKISKI proto-oncogene | Ofta (30–79 %) | I 2 tillstånd |
| SLC10A7solute carrier family 10 member 7 | Ofta (30–79 %) | I 1 tillstånd |
| SLC35B2solute carrier family 35 member B2 | Ofta (30–79 %) | I 1 tillstånd |
| SMAD2SMAD family member 2 | Ofta (30–79 %) | I 2 tillstånd |
| SMAD3SMAD family member 3 | Ofta (30–79 %) | I 3 tillstånd |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Ofta (30–79 %) | I 1 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 1 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 1 tillstånd |
| SONSON DNA and RNA binding protein | Ofta (30–79 %) | I 2 tillstånd |
| SOX11SRY-box transcription factor 11 | Ofta (30–79 %) | I 1 tillstånd |
| SOX4SRY-box transcription factor 4 | Ofta (30–79 %) | I 1 tillstånd |
| SPARTspartin | Ofta (30–79 %) | I 1 tillstånd |
| SRCAPSnf2 related CREBBP activator protein | Ofta (30–79 %) | I 2 tillstånd |
| STAG1STAG1 cohesin complex component | Ofta (30–79 %) | I 2 tillstånd |
| STAT3signal transducer and activator of transcription 3 | Ofta (30–79 %) | I 2 tillstånd |
| STAT4signal transducer and activator of transcription 4 | Ofta (30–79 %) | I 1 tillstånd |
| TAF1TATA-box binding protein associated factor 1 | Ofta (30–79 %) | I 2 tillstånd |
| TANC2tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 | Ofta (30–79 %) | I 1 tillstånd |
| TCF12transcription factor 12 | Ofta (30–79 %) | I 1 tillstånd |
| TGFB2transforming growth factor beta 2 | Ofta (30–79 %) | I 2 tillstånd |
| TGFB3transforming growth factor beta 3 | Ofta (30–79 %) | I 2 tillstånd |
| TGFBR1transforming growth factor beta receptor 1 | Ofta (30–79 %) | I 2 tillstånd |
| TMTC3transmembrane O-mannosyltransferase targeting cadherins 3 | Ofta (30–79 %) | I 1 tillstånd |
| TNRC6Btrinucleotide repeat containing adaptor 6B | Ofta (30–79 %) | I 1 tillstånd |
| TRAIPTRAF interacting protein | Ofta (30–79 %) | I 1 tillstånd |
| TRIM33tripartite motif containing 33 | Ofta (30–79 %) | I 1 tillstånd |
| TRMT10AtRNA methyltransferase 10A | Ofta (30–79 %) | I 2 tillstånd |
| TRPS1transcriptional repressor GATA binding 1 | Ofta (30–79 %) | I 1 tillstånd |
| UPF3BUPF3B regulator of nonsense mediated mRNA decay | Ofta (30–79 %) | I 1 tillstånd |
| USB1U6 snRNA biogenesis phosphodiesterase 1 | Ofta (30–79 %) | I 1 tillstånd |
| WASF1WASP family member 1 | Ofta (30–79 %) | I 1 tillstånd |
| WDR35WD repeat domain 35 | Ofta (30–79 %) | I 2 tillstånd |
| WNT1Wnt family member 1 | Ofta (30–79 %) | I 1 tillstånd |
| YARS1tyrosyl-tRNA synthetase 1 | Ofta (30–79 %) | I 1 tillstånd |
| ZBTB20zinc finger and BTB domain containing 20 | Ofta (30–79 %) | I 1 tillstånd |
| ZDHHC9zDHHC palmitoyltransferase 9 | Ofta (30–79 %) | I 1 tillstånd |
| ZMIZ1zinc finger MIZ-type containing 1 | Ofta (30–79 %) | I 1 tillstånd |
| ABCC6ATP binding cassette subfamily C member 6 | Ibland (5–29 %) | I 1 tillstånd |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Ibland (5–29 %) | I 1 tillstånd |
| ARL6ARF like GTPase 6 | Ibland (5–29 %) | I 1 tillstånd |
| ARVCFARVCF delta catenin family member | Ibland (5–29 %) | I 1 tillstånd |
| B4GALT7beta-1,4-galactosyltransferase 7 | Ibland (5–29 %) | I 2 tillstånd |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Ibland (5–29 %) | I 1 tillstånd |
| BBIP1BBSome interacting protein 1 | Ibland (5–29 %) | I 1 tillstånd |
| BBS1Bardet-Biedl syndrome 1 | Ibland (5–29 %) | I 1 tillstånd |
| BBS10Bardet-Biedl syndrome 10 | Ibland (5–29 %) | I 1 tillstånd |
| BBS12Bardet-Biedl syndrome 12 | Ibland (5–29 %) | I 1 tillstånd |
| BBS2Bardet-Biedl syndrome 2 | Ibland (5–29 %) | I 1 tillstånd |
| BBS4Bardet-Biedl syndrome 4 | Ibland (5–29 %) | I 1 tillstånd |
| BBS5Bardet-Biedl syndrome 5 | Ibland (5–29 %) | I 1 tillstånd |
| BBS7Bardet-Biedl syndrome 7 | Ibland (5–29 %) | I 1 tillstånd |
| BBS9Bardet-Biedl syndrome 9 | Ibland (5–29 %) | I 1 tillstånd |
| BCRBCR activator of RhoGEF and GTPase | Ibland (5–29 %) | I 1 tillstånd |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Ibland (5–29 %) | I 1 tillstånd |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Ibland (5–29 %) | I 1 tillstånd |
| CAMK2Acalcium/calmodulin dependent protein kinase II alpha | Ibland (5–29 %) | I 1 tillstånd |
| CDC42BPBCDC42 binding protein kinase beta | Ibland (5–29 %) | I 1 tillstånd |
| CEP104centrosomal protein 104 | Ibland (5–29 %) | I 1 tillstånd |
| CEP19centrosomal protein 19 | Ibland (5–29 %) | I 1 tillstånd |
| CEP290centrosomal protein 290 | Ibland (5–29 %) | I 1 tillstånd |
| CFAP418cilia and flagella associated protein 418 | Ibland (5–29 %) | I 1 tillstånd |
| CLIP2CAP-Gly domain containing linker protein 2 | Ibland (5–29 %) | I 1 tillstånd |
| COL11A1collagen type XI alpha 1 chain | Ibland (5–29 %) | I 1 tillstånd |
| COL18A1collagen type XVIII alpha 1 chain | Ibland (5–29 %) | I 2 tillstånd |
| COL6A2collagen type VI alpha 2 chain | Ibland (5–29 %) | I 1 tillstånd |
| COL6A3collagen type VI alpha 3 chain | Ibland (5–29 %) | I 1 tillstånd |
| COMTcatechol-O-methyltransferase | Ibland (5–29 %) | I 1 tillstånd |
| CRKLCRK like proto-oncogene, adaptor protein | Ibland (5–29 %) | I 1 tillstånd |
| CRTAPcartilage associated protein | Ibland (5–29 %) | I 1 tillstånd |
| CSNK2A1casein kinase 2 alpha 1 | Ibland (5–29 %) | I 1 tillstånd |
| CTNND2catenin delta 2 | Ibland (5–29 %) | I 1 tillstånd |
| CUL4Bcullin 4B | Ibland (5–29 %) | I 2 tillstånd |
| DDRGK1DDRGK domain containing 1 | Ibland (5–29 %) | I 2 tillstånd |
| DDX3XDEAD-box helicase 3 X-linked | Ibland (5–29 %) | I 1 tillstånd |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Ibland (5–29 %) | I 1 tillstånd |
| DNMT3ADNA methyltransferase 3 alpha | Ibland (5–29 %) | I 1 tillstånd |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Ibland (5–29 %) | I 1 tillstånd |
| DPYDdihydropyrimidine dehydrogenase | Ibland (5–29 %) | I 1 tillstånd |
| DPYSL5dihydropyrimidinase like 5 | Ibland (5–29 %) | I 1 tillstånd |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Ibland (5–29 %) | I 1 tillstånd |
| EHMT1euchromatic histone lysine methyltransferase 1 | Ibland (5–29 %) | I 1 tillstånd |
| EIF4Heukaryotic translation initiation factor 4H | Ibland (5–29 %) | I 1 tillstånd |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Ibland (5–29 %) | I 1 tillstånd |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Ibland (5–29 %) | I 1 tillstånd |
| FBXL3F-box and leucine rich repeat protein 3 | 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 |
| FILIP1filamin A interacting protein 1 | Ibland (5–29 %) | I 1 tillstånd |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Ibland (5–29 %) | I 1 tillstånd |
| FOCADfocadhesin | Ibland (5–29 %) | I 1 tillstånd |
| GATAD2BGATA zinc finger domain containing 2B | Ibland (5–29 %) | I 1 tillstånd |
| GDF11growth differentiation factor 11 | Ibland (5–29 %) | I 1 tillstånd |
| GDF5growth differentiation factor 5 | Ibland (5–29 %) | I 1 tillstånd |
| GFPT1glutamine--fructose-6-phosphate transaminase 1 | Ibland (5–29 %) | I 1 tillstånd |
| GJA5gap junction protein alpha 5 | Ibland (5–29 %) | I 1 tillstånd |
| GJA8gap junction protein alpha 8 | Ibland (5–29 %) | I 1 tillstånd |
| GMPPBGDP-mannose pyrophosphorylase B | Ibland (5–29 %) | I 1 tillstånd |
| GNB1G protein subunit beta 1 | Ibland (5–29 %) | I 1 tillstånd |
| GNB2G protein subunit beta 2 | Ibland (5–29 %) | I 1 tillstånd |
| GP1BBglycoprotein Ib platelet subunit beta | Ibland (5–29 %) | I 1 tillstånd |
| GPC4glypican 4 | Ibland (5–29 %) | I 1 tillstånd |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Ibland (5–29 %) | I 1 tillstånd |
| GTF2Igeneral transcription factor IIi | Ibland (5–29 %) | I 1 tillstånd |
| GTF2IRD1GTF2I repeat domain containing 1 | Ibland (5–29 %) | I 1 tillstånd |
| GTF2IRD2GTF2I repeat domain containing 2 | Ibland (5–29 %) | I 1 tillstånd |
| H3-3AH3.3 histone A | Ibland (5–29 %) | I 1 tillstånd |
| H4C5H4 clustered histone 5 | Ibland (5–29 %) | I 1 tillstånd |
| HIRAhistone cell cycle regulator | Ibland (5–29 %) | I 1 tillstånd |
| HNF1BHNF1 homeobox B | Ibland (5–29 %) | I 1 tillstånd |
| HNRNPH2heterogeneous nuclear ribonucleoprotein H2 | Ibland (5–29 %) | I 1 tillstånd |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Ibland (5–29 %) | I 2 tillstånd |
| HYMAIhydatidiform mole associated and imprinted | Ibland (5–29 %) | I 1 tillstånd |
| IFITM5interferon induced transmembrane protein 5 | Ibland (5–29 %) | I 1 tillstånd |
| IFT172intraflagellar transport 172 | Ibland (5–29 %) | I 1 tillstånd |
| IFT27intraflagellar transport 27 | Ibland (5–29 %) | I 1 tillstånd |
| IFT74intraflagellar transport 74 | Ibland (5–29 %) | I 1 tillstånd |
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Ibland (5–29 %) | I 1 tillstånd |
| JARID2jumonji and AT-rich interaction domain containing 2 | Ibland (5–29 %) | I 1 tillstånd |
| JMJD1Cjumonji domain containing 1C | Ibland (5–29 %) | I 1 tillstånd |
| KCNJ2potassium inwardly rectifying channel subfamily J member 2 | Ibland (5–29 %) | I 2 tillstånd |
| KCNJ5potassium inwardly rectifying channel subfamily J member 5 | Ibland (5–29 %) | I 1 tillstånd |
| KMT2Alysine methyltransferase 2A | Ibland (5–29 %) | I 1 tillstånd |
| LIMK1LIM domain kinase 1 | Ibland (5–29 %) | I 1 tillstånd |
| LMNAlamin A/C | Ibland (5–29 %) | I 1 tillstånd |
| LMNB2lamin B2 | Ibland (5–29 %) | I 1 tillstånd |
| LOXlysyl oxidase | Ibland (5–29 %) | I 1 tillstånd |
| LZTFL1leucine zipper transcription factor like 1 | Ibland (5–29 %) | I 1 tillstånd |
| MAMLD1mastermind like domain containing 1 | Ibland (5–29 %) | I 1 tillstånd |
| MAN2B1mannosidase alpha class 2B member 1 | Ibland (5–29 %) | I 1 tillstånd |
| MAPK1mitogen-activated protein kinase 1 | Ibland (5–29 %) | I 2 tillstånd |
| MARK2microtubule affinity regulating kinase 2 | Ibland (5–29 %) | I 1 tillstånd |
| MAU2MAU2 sister chromatid cohesion factor | Ibland (5–29 %) | I 1 tillstånd |
| METTL27methyltransferase like 27 | Ibland (5–29 %) | I 1 tillstånd |
| MICU1mitochondrial calcium uptake 1 | Ibland (5–29 %) | I 1 tillstånd |
| MKKSMKKS centrosomal shuttling protein | Ibland (5–29 %) | I 1 tillstånd |
| MRE11MRE11 double strand break repair nuclease | Ibland (5–29 %) | I 1 tillstånd |
| MSL2MSL complex subunit 2 | Ibland (5–29 %) | I 1 tillstånd |
| MTM1myotubularin 1 | Ibland (5–29 %) | I 1 tillstånd |
| NANSN-acetylneuraminate synthase | Ibland (5–29 %) | I 1 tillstånd |
| NCF1neutrophil cytosolic factor 1 | Ibland (5–29 %) | I 1 tillstånd |
| NGLY1N-glycanase 1 | Ibland (5–29 %) | I 1 tillstånd |
| NONOnon-POU domain containing octamer binding | Ibland (5–29 %) | I 2 tillstånd |
| NPHP1nephrocystin 1 | Ibland (5–29 %) | I 1 tillstånd |
| P4HBprolyl 4-hydroxylase subunit beta | Ibland (5–29 %) | I 1 tillstånd |
| PAK2p21 (RAC1) activated kinase 2 | Ibland (5–29 %) | I 1 tillstånd |
| PAX2paired box 2 | Ibland (5–29 %) | I 2 tillstånd |
| PDE4Dphosphodiesterase 4D | Ibland (5–29 %) | I 1 tillstånd |
| PHF6PHD finger protein 6 | Ibland (5–29 %) | I 1 tillstånd |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Ibland (5–29 %) | I 1 tillstånd |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Ibland (5–29 %) | I 1 tillstånd |
| PLAGL1PLAG1 like zinc finger 1 | Ibland (5–29 %) | I 1 tillstånd |
| POGZpogo transposable element derived with ZNF domain | Ibland (5–29 %) | I 2 tillstånd |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Ibland (5–29 %) | I 1 tillstånd |
| PPP2R1Aprotein phosphatase 2 scaffold subunit Aalpha | Ibland (5–29 %) | I 2 tillstånd |
| PYCR2pyrroline-5-carboxylate reductase 2 | Ibland (5–29 %) | I 1 tillstånd |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Ibland (5–29 %) | I 1 tillstånd |
| RAC1Rac family small GTPase 1 | Ibland (5–29 %) | I 2 tillstånd |
| RFC2replication factor C subunit 2 | Ibland (5–29 %) | I 1 tillstånd |
| RFX7regulatory factor X7 | Ibland (5–29 %) | I 1 tillstånd |
| RNF125ring finger protein 125 | Ibland (5–29 %) | I 1 tillstånd |
| RNF13ring finger protein 13 | Ibland (5–29 %) | I 1 tillstånd |
| RNU2-2RNA, U2 small nuclear 2 | Ibland (5–29 %) | I 1 tillstånd |
| RREB1ras responsive element binding protein 1 | Ibland (5–29 %) | I 1 tillstånd |
| SATB1SATB homeobox 1 | Ibland (5–29 %) | I 1 tillstånd |
| SATB2SATB homeobox 2 | Ibland (5–29 %) | I 2 tillstånd |
| SCAPERS-phase cyclin A associated protein in the ER | Ibland (5–29 %) | I 1 tillstånd |
| SCLT1sodium channel and clathrin linker 1 | Ibland (5–29 %) | I 1 tillstånd |
| SCUBE3signal peptide, CUB domain and EGF like domain containing 3 | Ibland (5–29 %) | I 1 tillstånd |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Ibland (5–29 %) | I 1 tillstånd |
| SEC24CSEC24 homolog C, COPII component | Ibland (5–29 %) | I 1 tillstånd |
| SEC24DSEC24 homolog D, COPII component | Ibland (5–29 %) | I 1 tillstånd |
| SEMA5Asemaphorin 5A | Ibland (5–29 %) | I 1 tillstånd |
| SETSET nuclear proto-oncogene | Ibland (5–29 %) | I 1 tillstånd |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Ibland (5–29 %) | I 1 tillstånd |
| SLC26A2solute carrier family 26 member 2 | Ibland (5–29 %) | I 1 tillstånd |
| SLC39A8solute carrier family 39 member 8 | Ibland (5–29 %) | I 1 tillstånd |
| SLC6A8solute carrier family 6 member 8 | Ibland (5–29 %) | I 2 tillstånd |
| SLC9A6solute carrier family 9 member A6 | Ibland (5–29 %) | I 1 tillstånd |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Ibland (5–29 %) | I 1 tillstånd |
| SMOC1SPARC related modular calcium binding 1 | Ibland (5–29 %) | I 1 tillstånd |
| SOX9SRY-box transcription factor 9 | Ibland (5–29 %) | I 1 tillstånd |
| STRADASTE20 related adaptor alpha | Ibland (5–29 %) | I 2 tillstånd |
| STX1Asyntaxin 1A | Ibland (5–29 %) | I 1 tillstånd |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Ibland (5–29 %) | I 1 tillstånd |
| SYT1synaptotagmin 1 | Ibland (5–29 %) | I 2 tillstånd |
| TAOK1TAO kinase 1 | Ibland (5–29 %) | I 1 tillstånd |
| TBL1XR1TBL1X/Y related 1 | Ibland (5–29 %) | I 1 tillstånd |
| TBL2transducin beta like 2 | Ibland (5–29 %) | I 1 tillstånd |
| TBX1T-box transcription factor 1 | Ibland (5–29 %) | I 1 tillstånd |
| TELO2telomere maintenance 2 | Ibland (5–29 %) | I 1 tillstånd |
| TET3tet methylcytosine dioxygenase 3 | Ibland (5–29 %) | I 1 tillstånd |
| THOC2THO complex subunit 2 | Ibland (5–29 %) | I 1 tillstånd |
| TMCO1transmembrane and coiled-coil domains 1 | Ibland (5–29 %) | I 1 tillstånd |
| TMEM270transmembrane protein 270 | Ibland (5–29 %) | I 1 tillstånd |
| TNNC2troponin C2, fast skeletal type | Ibland (5–29 %) | I 1 tillstånd |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Ibland (5–29 %) | I 1 tillstånd |
| TONSLtonsoku like, DNA repair protein | Ibland (5–29 %) | I 1 tillstånd |
| TRAF7TNF receptor associated factor 7 | Ibland (5–29 %) | I 1 tillstånd |
| TRIM32tripartite motif containing 32 | Ibland (5–29 %) | I 1 tillstånd |
| TRIM8tripartite motif containing 8 | Ibland (5–29 %) | I 1 tillstånd |
| TTC8tetratricopeptide repeat domain 8 | Ibland (5–29 %) | I 1 tillstånd |
| TUBB3tubulin beta 3 class III | Ibland (5–29 %) | I 1 tillstånd |
| UBE3Aubiquitin protein ligase E3A | Ibland (5–29 %) | I 1 tillstånd |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Ibland (5–29 %) | I 1 tillstånd |
| USP9Xubiquitin specific peptidase 9 X-linked | Ibland (5–29 %) | I 3 tillstånd |
| VPS37DVPS37D subunit of ESCRT-I | Ibland (5–29 %) | I 1 tillstånd |
| WDPCPWD repeat containing planar cell polarity effector | Ibland (5–29 %) | I 1 tillstånd |
| XYLT2xylosyltransferase 2 | Ibland (5–29 %) | I 1 tillstånd |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Ibland (5–29 %) | I 1 tillstånd |
| ZMYM2zinc finger MYM-type containing 2 | Ibland (5–29 %) | I 1 tillstånd |
| ACBD6acyl-CoA binding domain containing 6 | Sällan (1–4%) | I 1 tillstånd |
| CTCFCCCTC-binding factor | Sällan (1–4%) | I 1 tillstånd |
| CTSKcathepsin K | Sällan (1–4%) | I 1 tillstånd |
| SLC35A2solute carrier family 35 member A2 | Sällan (1–4%) | I 1 tillstånd |
| SPTBN1spectrin beta, non-erythrocytic 1 | Sällan (1–4%) | I 1 tillstånd |
| STAC3SH3 and cysteine rich domain 3 | Sällan (1–4%) | I 1 tillstånd |
| TBR1T-box brain transcription factor 1 | Sällan (1–4%) | I 1 tillstånd |
| ZNF341zinc finger protein 341 | Sällan (1–4%) | I 1 tillstånd |
| AGAaspartylglucosaminidase | Inte registrerat | I 1 tillstånd |
| AMMECR1AMMECR nuclear protein 1 | Inte registrerat | I 1 tillstånd |
| ATN1atrophin 1 | Inte registrerat | I 1 tillstånd |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Inte registrerat | I 1 tillstånd |
| ATP7BATPase copper transporting beta | Inte registrerat | I 1 tillstånd |
| B3GLCTbeta 3-glucosyltransferase | Inte registrerat | I 1 tillstånd |
| CCDC47coiled-coil domain containing 47 | Inte registrerat | I 1 tillstånd |
| CHST14carbohydrate sulfotransferase 14 | Inte registrerat | I 1 tillstånd |
| COLEC11collectin subfamily member 11 | Inte registrerat | I 1 tillstånd |
| DCHS1dachsous cadherin-related 1 | Inte registrerat | I 1 tillstånd |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Inte registrerat | I 1 tillstånd |
| EEDembryonic ectoderm development | Inte registrerat | I 1 tillstånd |
| FAT4FAT atypical cadherin 4 | Inte registrerat | I 1 tillstånd |
| GALNSgalactosamine (N-acetyl)-6-sulfatase | Inte registrerat | I 1 tillstånd |
| GLB1galactosidase beta 1 | Inte registrerat | I 1 tillstånd |
| OTX2orthodenticle homeobox 2 | Inte registrerat | I 1 tillstånd |
| PHIPPHIP subunit of CUL4-Ring ligase complex | Inte registrerat | I 1 tillstånd |
| PORCNporcupine O-acyltransferase | Inte registrerat | I 1 tillstånd |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Inte registrerat | I 1 tillstånd |
| RETret proto-oncogene | Inte registrerat | I 1 tillstånd |
| SERPINH1serpin family H member 1 | Inte registrerat | I 1 tillstånd |
| SLC39A13solute carrier family 39 member 13 | Inte registrerat | I 1 tillstånd |
| SLC6A9solute carrier family 6 member 9 | Inte registrerat | I 1 tillstånd |
| TCTN3tectonic family member 3 | Inte registrerat | I 1 tillstånd |
| TLK2tousled like kinase 2 | Inte registrerat | I 1 tillstånd |
| UBR1ubiquitin protein ligase E3 component n-recognin 1 | Inte registrerat | I 1 tillstånd |
| VAMP1vesicle associated membrane protein 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 2026.10.21-311f020e.
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