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Egenskap
Short fingers or toes
Klinisk navn: Brachydactyly
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.
Sammendrag
- Også kalt
- Brachydactyly syndrome
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Denne siden som data
Legg til .json etter adressen til siden, eller be om application/json, for å lese den som JSON.
library(jsonlite)
url <- "https://dantelabs.com/traits/brachydactyly.json"
page <- fromJSON(url)
page$trait$nameShort fingers or toesHP:0001156
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Logg innSpørSekvenser genomet ditt↗
Les genene knyttet til Short fingers or toes, og resten av genomet ditt, med én test.
Fra 449 $Gratis frakt · Resultater på 6–8 uker
Få mitt Genome Test183 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 genesBBIP1BBS5BBS9ARL6BBS1BBS10About this report →
- Noonan SyndromeReads 19 of these genesERFKRASBRAFCBLHRASLZTR1About this report →
- Syndromic CraniosynostosisReads 17 of these genesERFIFT122IFT43IFT52MEGF8RAB23About this report →
- Ellis-van Creveld Syndrome and Cranioectodermal DysplasiaReads 7 of these genesIFT122IFT43IFT52WDR19WDR35EVCAbout this report →
Show 179 more reports
- Joubert Syndrome And Related DisordersReads 16 of these genesOFD1CEP120CEP290CPLANE1FAM149B1KIF7About this report →
- Adams-Oliver SyndromeReads 6 of these genesARHGAP31DLL4DOCK6EOGTNOTCH1RBPJAbout this report →
- Hypertrophic CardiomyopathyReads 19 of these genesERFZFPM2KRASBRAFHRASLZTR1About this report →
- Intellectual DisabilityReads 31 of these genesAHDC1DCPSHNRNPRKDM6BSMAD4PRMT7About this report →
- Achondrogenesis panelReads 4 of these genesCOL2A1GDF5TRIP11SLC26A2About this report →
- Multiple Synostoses Syndrome (FGF9)Reads 4 of these genesGDF5FGF9GDF6NOGAbout this report →
- Pseudohypoparathyroidism & GNAS-Inactivation DisordersReads 4 of these genesGNASPDE4DPRKAR1ASTX16About this report →
- Tetralogy of FallotReads 3 of these genesKDRNKX2-5ZFPM2About this report →
- Cornelia de Lange SyndromeReads 4 of these genesRAD21NIPBLSMC1ASMC3About this report →
- Alagille SyndromeReads 2 of these genesJAG1NOTCH2About this report →
- Carey-Fineman-Ziter SyndromeReads 2 of these genesMYMKMYMXAbout this report →
- Hereditary FibromatosesReads 2 of these genesANTXR2PDGFRBAbout this report →
- Kabuki SyndromeReads 2 of these genesKDM6AKMT2DAbout this report →
- Nevoid Basal Cell Carcinoma (Gorlin) SyndromeReads 2 of these genesPTCH1SUFUAbout this report →
- Otospondylomegaepiphyseal Dysplasia (OSMED)Reads 2 of these genesCOL2A1COL11A2About this report →
- Inherited Congenital Heart DefectsReads 5 of these genesFLNAGATA4GATA6NKX2-5NOTCH1About this report →
- Marfan Like SyndromesReads 4 of these genesBGNFBN1SKITGFBR2About this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 9 of these genesSNX14CEP290MKS1SIL1TMEM216TMEM231About this report →
- Immuno-Osseous DysplasiasReads 2 of these genesRNU4ATACRMRPAbout this report →
- Hypogonadotropic HypogonadismReads 8 of these genesFGFR1PLXND1REV3LCHD7SNRPNTCF12About this report →
- Nephronophthisis and Senior-Løken SyndromeReads 5 of these genesTTC21BWDR19NPHP1SDCCAG8TMEM67About this report →
- Retinitis PigmentosaReads 9 of these genesIFT140IFT43OFD1ARL6BBS2CFAP418About this report →
- Congenital Disorders of GlycosylationReads 10 of these genesSLC35C1B3GLCTCHSY1PIGLPIGNALG8About this report →
- Epiphyseal and Spondyloepiphyseal DysplasiasReads 3 of these genesCOL2A1COMPSLC26A2About 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 →
- Amyotrophic Lateral Sclerosis Susceptibility 24 (NEK1)Reads 1 of these genesNEK1About this report →
- Asphyxiating Thoracic Dystrophy 2 (IFT80)Reads 1 of these genesIFT80About this report →
- BAP1 Tumour Predisposition SyndromeReads 1 of these genesBAP1About this report →
- Bent Bone Dysplasia Syndrome (FGFR2)Reads 1 of these genesFGFR2About this report →
- BMP4-Related Microphthalmia and AnophthalmiaReads 1 of these genesBMP4About this report →
- CEP290-Related CiliopathyReads 1 of these genesCEP290About this report →
- CHARGE SyndromeReads 1 of these genesCHD7About this report →
- Craniofrontonasal SyndromeReads 1 of these genesEFNB1About this report →
- CWC27-Related Retinitis Pigmentosa with Skeletal AnomaliesReads 1 of these genesCWC27About this report →
- DeSanto-Shinawi SyndromeReads 1 of these genesWACAbout this report →
- Desbuquois Dysplasia 1Reads 1 of these genesCANT1About this report →
- Dyssegmental Dysplasia, Silverman-Handmaker TypeReads 1 of these genesHSPG2About this report →
- EBF3-Related Neurodevelopmental Disorder (HADDS)Reads 1 of these genesEBF3About this report →
- Elsahy-Waters SyndromeReads 1 of these genesCDH11About this report →
- FAM111A-Related Skeletal DysplasiaReads 1 of these genesFAM111AAbout 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 →
- FLT4-Related Congenital Heart DiseaseReads 1 of these genesFLT4About this report →
- Focal Dermal Hypoplasia (Goltz Syndrome)Reads 1 of these genesPORCNAbout this report →
- Frank-Ter Haar SyndromeReads 1 of these genesSH3PXD2BAbout this report →
- Frontonasal Dysplasia 3 (ALX1)Reads 1 of these genesALX1About this report →
- FrontorhinyReads 1 of these genesALX3About this report →
- Greig Cephalopolysyndactyly SyndromeReads 1 of these genesGLI3About this report →
- Hajdu-Cheney SyndromeReads 1 of these genesNOTCH2About this report →
- Hereditary RetinoblastomaReads 1 of these genesRB1About this report →
- IFT140-Related CiliopathyReads 1 of these genesIFT140About this report →
- Jeune Asphyxiating Thoracic Dystrophy (DYNC2H1)Reads 1 of these genesDYNC2H1About this report →
- KAT6B-Related DisordersReads 1 of these genesKAT6BAbout this report →
- KDM1A-Related Neurodevelopmental DisorderReads 1 of these genesKDM1AAbout this report →
- Microcephalic Osteodysplastic Primordial Dwarfism Type IIReads 1 of these genesPCNTAbout this report →
- NOG-Related Symphalangism Spectrum DisorderReads 1 of these genesNOGAbout this report →
- OFD1-Related CiliopathyReads 1 of these genesOFD1About this report →
- OpsismodysplasiaReads 1 of these genesINPPL1About this report →
- Phenylketonuria (PKU)Reads 1 of these genesPAHAbout this report →
- PIK3R1-Related DisordersReads 1 of these genesPIK3R1About this report →
- PNPLA6-Related Ataxia, Retinal Dystrophy and HypogonadismReads 1 of these genesPNPLA6About this report →
- Radio-Tartaglia SyndromeReads 1 of these genesSPENAbout this report →
- Raine SyndromeReads 1 of these genesFAM20CAbout this report →
- RNU4ATAC Spectrum DisorderReads 1 of these genesRNU4ATACAbout this report →
- Roberts SyndromeReads 1 of these genesESCO2About this report →
- Schwartz-Jampel Syndrome Type 1Reads 1 of these genesHSPG2About this report →
- Short-Rib Thoracic Dysplasia 11 (DYNC2I2)Reads 1 of these genesDYNC2I2About this report →
- Short-Rib Thoracic Dysplasia 7 (WDR35)Reads 1 of these genesWDR35About this report →
- Short-Rib Thoracic Dysplasia 8 (DYNC2I1)Reads 1 of these genesDYNC2I1About this report →
- SHOX Deficiency (Leri-Weill and Langer Dysplasia)Reads 1 of these genesSHOXAbout this report →
- Smith-Lemli-Opitz SyndromeReads 1 of these genesDHCR7About this report →
- Spondyloepiphyseal Dysplasia With Congenital Joint DislocationsReads 1 of these genesCHST3About this report →
- Spondyloepiphyseal Dysplasia, Kondo-Fu TypeReads 1 of these genesMBTPS1About this report →
- Spondylometaphyseal Dysplasia With Cone-Rod DystrophyReads 1 of these genesPCYT1AAbout this report →
- Stankiewicz-Isidor SyndromeReads 1 of these genesPSMD12About this report →
- Stüve-Wiedemann SyndromeReads 1 of these genesLIFRAbout this report →
- TRPV4-Related Skeletal DysplasiasReads 1 of these genesTRPV4About this report →
- You-Hoover-Fong Syndrome (TELO2)Reads 1 of these genesTELO2About this report →
- ZIC1-Related CraniosynostosisReads 1 of these genesZIC1About this report →
- Meckel SyndromeReads 3 of these genesMKS1TMEM231TMEM67About this report →
- 46,XY Differences of Sex Development and Gonadal DysgenesisReads 4 of these genesGATA4ZFPM2HHATATRXAbout this report →
- GPI Anchor Biosynthesis DefectsReads 4 of these genesPIGLPIGNPIGSPIGKAbout this report →
- Coffin-Siris SyndromeReads 3 of these genesDPF2ARID1AARID2About this report →
- Hereditary Palmoplantar Keratodermas and Pachyonychia CongenitaReads 5 of these genesGJA1GJB3GJB4KDSRSLURP1About this report →
- Hereditary Orofacial CleftingReads 2 of these genesTBX22BMP4About this report →
- Congenital Cranial Dysinnervation DisordersReads 2 of these genesCHN1MAFBAbout this report →
- Cutis LaxaReads 3 of these genesLTBP1ATP7ARIN2About this report →
- Epilepsy (Full Panel)Reads 10 of these genesFBXO28PPP3CARNU2-2FLNAPIGSSLC2A1About this report →
- Activated PI3K-Delta Syndrome (APDS)Reads 1 of these genesPIK3R1About this report →
- Cleidocranial DysplasiaReads 1 of these genesRUNX2About this report →
- Cowden Syndrome (PTEN hamartoma tumour syndrome)Reads 1 of these genesPTENAbout this report →
- DOORS SyndromeReads 1 of these genesATP6V1B2About this report →
- Enlarged Parietal Foramina (MSX2)Reads 1 of these genesMSX2About this report →
- Fibrodysplasia Ossificans ProgressivaReads 1 of these genesGNASAbout this report →
- FLNB-Related Skeletal Dysplasia (Larsen Spectrum)Reads 1 of these genesFLNBAbout this report →
- Hereditary Gingival FibromatosisReads 1 of these genesSOS1About this report →
- Hereditary Multiple OsteochondromasReads 1 of these genesEXT1About this report →
- Juvenile Polyposis SyndromeReads 1 of these genesSMAD4About this report →
- Müllerian Aplasia (MRKH Syndrome)Reads 1 of these genesWNT4About this report →
- TRIP11-Related Skeletal DysplasiaReads 1 of these genesTRIP11About this report →
- Charcot-Marie-Tooth DiseaseReads 6 of these genesAIFM1MARS1JAG1TRPV4ATP7ALMNAAbout this report →
- Inherited Neurodegenerative DisordersReads 13 of these genesSNX14ATP7ACEP290MKS1SIL1TMEM216About this report →
- Imprinting Disorders: Prader-Willi, Silver-Russell and Beckwith-WiedemannReads 2 of these genesSNRPNMAGEL2About this report →
- Polycystic Kidney DiseaseReads 2 of these genesIFT140ALG8About this report →
- Congenital Diaphragmatic Hernia (Monogenic)Reads 1 of these genesZFPM2About this report →
- Disorder of Copper MetabolismReads 1 of these genesATP7AAbout this report →
- Familial Periodic ParalysisReads 1 of these genesKCNJ2About this report →
- Leukocyte Adhesion DeficiencyReads 1 of these genesSLC35C1About this report →
- MedulloblastomaReads 1 of these genesSUFUAbout this report →
- Rothmund-Thomson SyndromeReads 1 of these genesCRIPTAbout this report →
- Aortic AneurysmReads 2 of these genesFBN1TGFBR2About this report →
- Thyroid CancerReads 3 of these genesGNASNKX2-5STX16About this report →
- Complex Cortical Dysplasia and Frontoparietal PolymicrogyriaReads 2 of these genesAPC2KIF26AAbout this report →
- Carney Complex & Hereditary Adrenal Cushing SyndromeReads 1 of these genesPRKAR1AAbout this report →
- Complex Neurodevelopmental Disorder (TRRAP, MYH10, RERE, SOX11)Reads 1 of these genesREREAbout this report →
- Hereditary Hemorrhagic TelangiectasiaReads 1 of these genesSMAD4About this report →
- NeurofibromatosisReads 1 of these genesLZTR1About this report →
- Polycystic Liver Disease (1 and 2)Reads 1 of these genesALG8About this report →
- Short Qt SyndromeReads 1 of these genesKCNJ2About this report →
- Rare Hereditary Peripheral NeuropathiesReads 7 of these genesAIFM1MARS1JAG1TRPV4ATP7ALMNAAbout this report →
- Neonatal Diabetes MellitusReads 2 of these genesGATA4GATA6About this report →
- Periventricular Nodular HeterotopiaReads 1 of these genesFLNAAbout this report →
- Dilated CardiomyopathyReads 3 of these genesPRDM16LMNARAF1About this report →
- Hereditary Congenital & Juvenile CataractReads 2 of these genesMAFLSSAbout this report →
- Other Inborn Errors of ImmunityReads 6 of these genesNBASTBX1KRASPIK3R1PGM3RMRPAbout this report →
- Growth Hormone Insensitivity & IGF-1 Axis DisordersReads 1 of these genesGHRAbout this report →
- Hereditary Periodic Fever SyndromesReads 1 of these genesNLRP3About this report →
- Hereditary Visceral Myopathy, CIPO & MMIHSReads 1 of these genesFLNAAbout this report →
- Loeys-Dietz SyndromeReads 1 of these genesTGFBR2About this report →
- Rare Inherited Bone Marrow Failure SyndromesReads 1 of these genesMYSM1About this report →
- Surfactant Metabolism DysfunctionReads 1 of these genesMARS1About this report →
- Syndromic and Metabolic CardiomyopathiesReads 1 of these genesNKX2-5About this report →
- Non-Acquired Combined Pituitary Hormone DeficiencyReads 2 of these genesGLI3PTCH1About this report →
- VitreoretinopathyReads 2 of these genesCOL2A1COL11A1About this report →
- Autoimmune Lymphoproliferative Syndrome (ALPS)Reads 1 of these genesKRASAbout this report →
- Basal Ganglia CalcificationReads 1 of these genesPDGFRBAbout this report →
- Congenital Adrenal HyperplasiaReads 1 of these genesPORAbout this report →
- Monogenic Obesity (Leptin-Melanocortin Pathway)Reads 1 of these genesCEP19About this report →
- Waardenburg SyndromeReads 1 of these genesPAX3About this report →
- Hereditary Spastic ParaplegiaReads 3 of these genesPNPLA6WASHC5SPARTAbout this report →
- Diabetes MellitusReads 2 of these genesGATA4GATA6About this report →
- GlaucomaReads 1 of these genesLTBP2About this report →
- Progressive Cardiac Conduction Disease & Sick Sinus SyndromeReads 1 of these genesLMNAAbout this report →
- Inherited ThrombocytopeniasReads 2 of these genesRAP1BKDSRAbout this report →
- Limb-Girdle Muscular DystrophyReads 2 of these genesLMNATRIM32About this report →
- Kidney CancerReads 1 of these genesBAP1About this report →
- Agammaglobulinaemia (XLA and Autosomal Forms)Reads 1 of these genesPIK3R1About this report →
- Long QT SyndromeReads 1 of these genesKCNJ2About this report →
- Hearing Loss and DeafnessReads 3 of these genesAIFM1COL11A1COL11A2About this report →
- BH4 Deficiency & Monoamine Neurotransmitter DisordersReads 1 of these genesDBHAbout this report →
- Heterotaxy & Laterality DefectsReads 1 of these genesGDF1About this report →
- LipodystrophyReads 1 of these genesLMNAAbout this report →
- Type I InterferonopathiesReads 1 of these genesPOMPAbout this report →
- Urinary and Renal System TumourReads 1 of these genesBAP1About this report →
- Diamond-Blackfan AnemiaReads 1 of these genesHEATR3About this report →
- OsteopetrosisReads 1 of these genesCTSKAbout this report →
- Monogenic Hypertension & Mineralocorticoid DisordersReads 1 of these genesPDE3AAbout this report →
- Hereditary Hypotrichosis, Woolly Hair and MonilethrixReads 1 of these genesLSSAbout this report →
- Primary Lymphoedema & Lymphatic MalformationsReads 1 of these genesFLT4About this report →
- Amelogenesis ImperfectaReads 1 of these genesITGB6About this report →
- Congenital HypothyroidismReads 1 of these genesNKX2-5About this report →
- Autoimmune DiseaseReads 1 of these genesKRASAbout this report →
- Ehlers-Danlos SyndromeReads 1 of these genesTNXBAbout this report →
- Hereditary Sensory and Autonomic Neuropathies (incl. Familial Dysautonomia)Reads 1 of these genesAIFM1About this report →
- Leber Congenital Amaurosis & RPE65-Related RetinopathyReads 1 of these genesCEP290About this report →
- Lissencephaly Spectrum DisordersReads 1 of these genesAPC2About this report →
- Syndromic Complex Neurodevelopmental DisorderReads 1 of these genesTRA2BAbout this report →
- Microphthalmia, Anophthalmia & ColobomaReads 1 of these genesBMP4About this report →
- Spinal Muscular AtrophyReads 1 of these genesATP7AAbout this report →
- Osteogenesis ImperfectaReads 1 of these genesNBASAbout this report →
- Rare Monogenic Autoinflammatory DiseasesReads 1 of these genesPOMPAbout this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 1 of these genesSLC2A1About this report →
- Female InfertilityReads 1 of these genesWNT4About this report →
- Lysosomal Storage DiseaseReads 1 of these genesCTSKAbout this report →
- Leigh SyndromeReads 1 of these genesAIFM1About this report →
- Primary Mitochondrial DiseaseReads 1 of these genesAIFM1About this report →
Les genene knyttet til Short fingers or toes, og resten av genomet ditt, med én test.
Fra 449 $Gratis frakt · Resultater på 6–8 uker
Få mitt Genome Test381 gener knyttet til Short fingers or toes
Endringer i disse genene forårsaker sjeldne tilstander der Short fingers or toes forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| ADAMTS10ADAM metallopeptidase with thrombospondin type 1 motif 10 | Alltid | I 2 tilstander |
| AFF4ALF transcription elongation factor 4 | Alltid | I 2 tilstander |
| AHDC1AT-hook DNA binding motif containing 1 | Alltid | I 1 tilstand |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Alltid | I 1 tilstand |
| APC2APC regulator of Wnt signaling pathway 2 | Alltid | I 1 tilstand |
| BBIP1BBSome interacting protein 1 | Alltid | I 2 tilstander |
| BBS5Bardet-Biedl syndrome 5 | Alltid | I 2 tilstander |
| BBS9Bardet-Biedl syndrome 9 | Alltid | I 2 tilstander |
| BGNbiglycan | Alltid | I 2 tilstander |
| BMPR1Bbone morphogenetic protein receptor type 1B | Alltid | I 3 tilstander |
| CEP55centrosomal protein 55 | Alltid | I 1 tilstand |
| CHST11carbohydrate sulfotransferase 11 | Alltid | I 1 tilstand |
| CILK1ciliogenesis associated kinase 1 | Alltid | I 2 tilstander |
| COL2A1collagen type II alpha 1 chain | Alltid | I 4 tilstander |
| COMPcartilage oligomeric matrix protein | Alltid | I 3 tilstander |
| CRIPTCXXC repeat containing interactor of PDZ3 domain | Alltid | I 1 tilstand |
| DCPSdecapping enzyme, scavenger | Alltid | I 1 tilstand |
| DONSONDNA replication fork stabilization factor DONSON | Alltid | I 2 tilstander |
| DVL1dishevelled segment polarity protein 1 | Alltid | I 3 tilstander |
| DVL3dishevelled segment polarity protein 3 | Alltid | I 2 tilstander |
| DYMdymeclin | Alltid | I 1 tilstand |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Alltid | I 1 tilstand |
| ERFETS2 repressor factor | Alltid | I 1 tilstand |
| ERI1exoribonuclease 1 | Alltid | I 2 tilstander |
| EXOSC2exosome component 2 | Alltid | I 1 tilstand |
| FBXO28F-box protein 28 | Alltid | I 1 tilstand |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Alltid | I 1 tilstand |
| FTOFTO alpha-ketoglutarate dependent dioxygenase | Alltid | I 1 tilstand |
| GDF5growth differentiation factor 5 | Alltid | I 9 tilstander |
| GLI3GLI family zinc finger 3 | Alltid | I 2 tilstander |
| GNASGNAS complex locus | Alltid | I 8 tilstander |
| HNRNPRheterogeneous nuclear ribonucleoprotein R | Alltid | I 1 tilstand |
| IFT122intraflagellar transport 122 | Alltid | I 2 tilstander |
| IFT140intraflagellar transport 140 | Alltid | I 2 tilstander |
| IFT43intraflagellar transport 43 | Alltid | I 3 tilstander |
| IFT52intraflagellar transport 52 | Alltid | I 2 tilstander |
| IHHIndian hedgehog signaling molecule | Alltid | I 2 tilstander |
| KDM6Alysine demethylase 6A | Alltid | I 3 tilstander |
| KDM6Blysine demethylase 6B | Alltid | I 1 tilstand |
| KIAA0753KIAA0753 | Alltid | I 3 tilstander |
Vis 341 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| KMT2Dlysine methyltransferase 2D | Alltid | I 2 tilstander |
| LBRlamin B receptor | Alltid | I 3 tilstander |
| LTBP3latent transforming growth factor beta binding protein 3 | Alltid | I 3 tilstander |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Alltid | I 2 tilstander |
| MARS1methionyl-tRNA synthetase 1 | Alltid | I 1 tilstand |
| MBTPS1membrane bound transcription factor peptidase, site 1 | Alltid | I 1 tilstand |
| MEGF8multiple EGF like domains 8 | Alltid | I 2 tilstander |
| MIR140microRNA 140 | Alltid | I 1 tilstand |
| MRPS16mitochondrial ribosomal protein S16 | Alltid | I 1 tilstand |
| NBASNBAS subunit of NRZ tethering complex | Alltid | I 1 tilstand |
| NXNnucleoredoxin | Alltid | I 2 tilstander |
| OFD1OFD1 centriole and centriolar satellite protein | Alltid | I 4 tilstander |
| PDE4Dphosphodiesterase 4D | Alltid | I 3 tilstander |
| PLCB3phospholipase C beta 3 | Alltid | I 1 tilstand |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Alltid | I 1 tilstand |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Alltid | I 2 tilstander |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Alltid | I 1 tilstand |
| PTBP1polypyrimidine tract binding protein 1 | Alltid | I 1 tilstand |
| RAB23RAB23, member RAS oncogene family | Alltid | I 2 tilstander |
| RMP64ribonuclease MRP subunit p64 | Alltid | I 1 tilstand |
| RNU2-2RNA, U2 small nuclear 2 | Alltid | I 1 tilstand |
| ROR2ROR family WNT receptor 2 | Alltid | I 2 tilstander |
| SIK3SIK family kinase 3 | Alltid | I 1 tilstand |
| SLC35C1solute carrier family 35 member C1 | Alltid | I 1 tilstand |
| SMAD4SMAD family member 4 | Alltid | I 2 tilstander |
| TBC1D32TBC1 domain family member 32 | Alltid | I 1 tilstand |
| TBX15T-box transcription factor 15 | Alltid | I 1 tilstand |
| TRIP11thyroid hormone receptor interactor 11 | Alltid | I 1 tilstand |
| TRPS1transcriptional repressor GATA binding 1 | Alltid | I 3 tilstander |
| TTC21Btetratricopeptide repeat domain 21B | Alltid | I 2 tilstander |
| UBAP2Lubiquitin associated protein 2 like | Alltid | I 1 tilstand |
| WDR19WD repeat domain 19 | Alltid | I 3 tilstander |
| WDR35WD repeat domain 35 | Alltid | I 3 tilstander |
| WNT5AWnt family member 5A | Alltid | I 2 tilstander |
| ACANaggrecan | Svært ofte (80–99 %) | I 4 tilstander |
| ADAMTS17ADAM metallopeptidase with thrombospondin type 1 motif 17 | Svært ofte (80–99 %) | I 1 tilstand |
| ANTXR2ANTXR cell adhesion molecule 2 | Svært ofte (80–99 %) | I 1 tilstand |
| B3GLCTbeta 3-glucosyltransferase | Svært ofte (80–99 %) | I 2 tilstander |
| CASZ1castor zinc finger 1 | Svært ofte (80–99 %) | I 1 tilstand |
| CHST3carbohydrate sulfotransferase 3 | Svært ofte (80–99 %) | I 2 tilstander |
| CITED2Cbp/p300 interacting transactivator with ED-rich tail 2 | Svært ofte (80–99 %) | I 1 tilstand |
| COL11A1collagen type XI alpha 1 chain | Svært ofte (80–99 %) | I 2 tilstander |
| COL11A2collagen type XI alpha 2 chain | Svært ofte (80–99 %) | I 2 tilstander |
| CTSKcathepsin K | Svært ofte (80–99 %) | I 2 tilstander |
| CWC27CWC27 spliceosome associated cyclophilin | Svært ofte (80–99 %) | I 2 tilstander |
| FBN1fibrillin 1 | Svært ofte (80–99 %) | I 4 tilstander |
| FGF9fibroblast growth factor 9 | Svært ofte (80–99 %) | I 1 tilstand |
| FGFR2fibroblast growth factor receptor 2 | Svært ofte (80–99 %) | I 4 tilstander |
| FGFR3fibroblast growth factor receptor 3 | Svært ofte (80–99 %) | I 11 tilstander |
| FLNAfilamin A | Svært ofte (80–99 %) | I 2 tilstander |
| FLNBfilamin B | Svært ofte (80–99 %) | I 4 tilstander |
| FLT4fms related receptor tyrosine kinase 4 | Svært ofte (80–99 %) | I 1 tilstand |
| FZD2frizzled class receptor 2 | Svært ofte (80–99 %) | I 1 tilstand |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Svært ofte (80–99 %) | I 1 tilstand |
| GATA4GATA binding protein 4 | Svært ofte (80–99 %) | I 1 tilstand |
| GATA5GATA binding protein 5 | Svært ofte (80–99 %) | I 1 tilstand |
| GATA6GATA binding protein 6 | Svært ofte (80–99 %) | I 1 tilstand |
| GDF1growth differentiation factor 1 | Svært ofte (80–99 %) | I 1 tilstand |
| GDF6growth differentiation factor 6 | Svært ofte (80–99 %) | I 2 tilstander |
| GJA5gap junction protein alpha 5 | Svært ofte (80–99 %) | I 2 tilstander |
| HSPG2heparan sulfate proteoglycan 2 | Svært ofte (80–99 %) | I 1 tilstand |
| INPPL1inositol polyphosphate phosphatase like 1 | Svært ofte (80–99 %) | I 1 tilstand |
| JAG1jagged canonical Notch ligand 1 | Svært ofte (80–99 %) | I 1 tilstand |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Svært ofte (80–99 %) | I 1 tilstand |
| KDRkinase insert domain receptor | Svært ofte (80–99 %) | I 1 tilstand |
| LONP1lon peptidase 1, mitochondrial | Svært ofte (80–99 %) | I 1 tilstand |
| LTBP1latent transforming growth factor beta binding protein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| LTBP2latent transforming growth factor beta binding protein 2 | Svært ofte (80–99 %) | I 2 tilstander |
| LUZP1leucine zipper protein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| MACROH2A1macroH2A.1 histone | Svært ofte (80–99 %) | I 1 tilstand |
| MAFMAF bZIP transcription factor | Svært ofte (80–99 %) | I 1 tilstand |
| MMP23Bmatrix metallopeptidase 23B | Svært ofte (80–99 %) | I 1 tilstand |
| MYMKmyomaker, myoblast fusion factor | Svært ofte (80–99 %) | I 1 tilstand |
| MYMXmyomixer, myoblast fusion factor | Svært ofte (80–99 %) | I 1 tilstand |
| NKX2-5NK2 homeobox 5 | Svært ofte (80–99 %) | I 1 tilstand |
| NKX2-6NK2 homeobox 6 | Svært ofte (80–99 %) | I 1 tilstand |
| NLRP3NLR family pyrin domain containing 3 | Svært ofte (80–99 %) | I 1 tilstand |
| NOGnoggin | Svært ofte (80–99 %) | I 4 tilstander |
| NOTCH2notch receptor 2 | Svært ofte (80–99 %) | I 1 tilstand |
| PCNTpericentrin | Svært ofte (80–99 %) | I 2 tilstander |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Svært ofte (80–99 %) | I 2 tilstander |
| PDE3Aphosphodiesterase 3A | Svært ofte (80–99 %) | I 1 tilstand |
| PDPNpodoplanin | Svært ofte (80–99 %) | I 1 tilstand |
| PITX1paired like homeodomain 1 | Svært ofte (80–99 %) | I 1 tilstand |
| PPP2R3Cprotein phosphatase 2 regulatory subunit B''gamma | Svært ofte (80–99 %) | I 1 tilstand |
| PRDM16PR/SET domain 16 | Svært ofte (80–99 %) | I 1 tilstand |
| PRKCZprotein kinase C zeta | Svært ofte (80–99 %) | I 1 tilstand |
| PRMT7protein arginine methyltransferase 7 | Svært ofte (80–99 %) | I 2 tilstander |
| PTDSS1phosphatidylserine synthase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| RAI1retinoic acid induced 1 | Svært ofte (80–99 %) | I 2 tilstander |
| REREarginine-glutamic acid dipeptide repeats | Svært ofte (80–99 %) | I 1 tilstand |
| RNU4ATACRNA, U4atac small nuclear | Svært ofte (80–99 %) | I 6 tilstander |
| RSPRY1ring finger and SPRY domain containing 1 | Svært ofte (80–99 %) | I 1 tilstand |
| SCUBE3signal peptide, CUB domain and EGF like domain containing 3 | Svært ofte (80–99 %) | I 1 tilstand |
| SH3PXD2BSH3 and PX domains 2B | Svært ofte (80–99 %) | I 1 tilstand |
| SHOXSHOX homeobox | Svært ofte (80–99 %) | I 1 tilstand |
| SKISKI proto-oncogene | Svært ofte (80–99 %) | I 1 tilstand |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Svært ofte (80–99 %) | I 2 tilstander |
| SNX14sorting nexin 14 | Svært ofte (80–99 %) | I 2 tilstander |
| SPENspen family transcriptional repressor | Svært ofte (80–99 %) | I 2 tilstander |
| TBX1T-box transcription factor 1 | Svært ofte (80–99 %) | I 1 tilstand |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Svært ofte (80–99 %) | I 3 tilstander |
| UBE4Bubiquitination factor E4B | Svært ofte (80–99 %) | I 1 tilstand |
| ZFPM2zinc finger protein, FOG family member 2 | Svært ofte (80–99 %) | I 1 tilstand |
| ADAMTSL2ADAMTS like 2 | Ofte (30–79 %) | I 1 tilstand |
| AHSGalpha 2-HS glycoprotein | Ofte (30–79 %) | I 1 tilstand |
| ALX1ALX homeobox 1 | Ofte (30–79 %) | I 1 tilstand |
| ALX3ALX homeobox 3 | Ofte (30–79 %) | I 2 tilstander |
| ARHGAP31Rho GTPase activating protein 31 | Ofte (30–79 %) | I 2 tilstander |
| ARL6ARF like GTPase 6 | Ofte (30–79 %) | I 3 tilstander |
| ATP7AATPase copper transporting alpha | Ofte (30–79 %) | I 1 tilstand |
| BBS1Bardet-Biedl syndrome 1 | Ofte (30–79 %) | I 2 tilstander |
| BBS10Bardet-Biedl syndrome 10 | Ofte (30–79 %) | I 1 tilstand |
| BBS12Bardet-Biedl syndrome 12 | Ofte (30–79 %) | I 1 tilstand |
| BBS2Bardet-Biedl syndrome 2 | Ofte (30–79 %) | I 1 tilstand |
| BBS4Bardet-Biedl syndrome 4 | Ofte (30–79 %) | I 2 tilstander |
| BBS7Bardet-Biedl syndrome 7 | Ofte (30–79 %) | I 1 tilstand |
| BPNT23'(2'), 5'-bisphosphate nucleotidase 2 | Ofte (30–79 %) | I 1 tilstand |
| CCDC32coiled-coil domain containing 32 | Ofte (30–79 %) | I 1 tilstand |
| CEP120centrosomal protein 120 | Ofte (30–79 %) | I 1 tilstand |
| CEP19centrosomal protein 19 | Ofte (30–79 %) | I 1 tilstand |
| CEP290centrosomal protein 290 | Ofte (30–79 %) | I 1 tilstand |
| CFAP418cilia and flagella associated protein 418 | Ofte (30–79 %) | I 1 tilstand |
| CHSY1chondroitin sulfate synthase 1 | Ofte (30–79 %) | I 2 tilstander |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Ofte (30–79 %) | I 2 tilstander |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| DBHdopamine beta-hydroxylase | Ofte (30–79 %) | I 1 tilstand |
| DLL4delta like canonical Notch ligand 4 | Ofte (30–79 %) | I 2 tilstander |
| DOCK6dedicator of cytokinesis 6 | Ofte (30–79 %) | I 1 tilstand |
| DPF2double PHD fingers 2 | Ofte (30–79 %) | I 1 tilstand |
| DPH2diphthamide biosynthesis 2 | Ofte (30–79 %) | I 1 tilstand |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Ofte (30–79 %) | I 2 tilstander |
| DYNC2I1dynein 2 intermediate chain 1 | Ofte (30–79 %) | I 2 tilstander |
| DYNC2I2dynein 2 intermediate chain 2 | Ofte (30–79 %) | I 2 tilstander |
| DYNC2LI1dynein cytoplasmic 2 light intermediate chain 1 | Ofte (30–79 %) | I 2 tilstander |
| DYNLT2Bdynein light chain Tctex-type 2B | Ofte (30–79 %) | I 1 tilstand |
| EFNB1ephrin B1 | Ofte (30–79 %) | I 2 tilstander |
| EOGTEGF domain specific O-linked N-acetylglucosamine transferase | Ofte (30–79 %) | I 1 tilstand |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Ofte (30–79 %) | I 2 tilstander |
| EXTL3exostosin like glycosyltransferase 3 | Ofte (30–79 %) | I 2 tilstander |
| FAM149B1family with sequence similarity 149 member B1 | Ofte (30–79 %) | I 1 tilstand |
| FGFR1fibroblast growth factor receptor 1 | Ofte (30–79 %) | I 2 tilstander |
| GHRgrowth hormone receptor | Ofte (30–79 %) | I 1 tilstand |
| GPC4glypican 4 | Ofte (30–79 %) | I 1 tilstand |
| GRB10growth factor receptor bound protein 10 | Ofte (30–79 %) | I 1 tilstand |
| HDAC4histone deacetylase 4 | Ofte (30–79 %) | I 1 tilstand |
| HEATR3HEAT repeat containing 3 | Ofte (30–79 %) | I 1 tilstand |
| HHAThedgehog acyltransferase | Ofte (30–79 %) | I 1 tilstand |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Ofte (30–79 %) | I 1 tilstand |
| IFT172intraflagellar transport 172 | Ofte (30–79 %) | I 3 tilstander |
| IFT27intraflagellar transport 27 | Ofte (30–79 %) | I 1 tilstand |
| IFT74intraflagellar transport 74 | Ofte (30–79 %) | I 1 tilstand |
| IFT80intraflagellar transport 80 | Ofte (30–79 %) | I 2 tilstander |
| ITGB6integrin subunit beta 6 | Ofte (30–79 %) | I 1 tilstand |
| KCNK4potassium two pore domain channel subfamily K member 4 | Ofte (30–79 %) | I 1 tilstand |
| KDM1Alysine demethylase 1A | Ofte (30–79 %) | I 1 tilstand |
| KIF15kinesin family member 15 | Ofte (30–79 %) | I 1 tilstand |
| KIF7kinesin family member 7 | Ofte (30–79 %) | I 2 tilstander |
| KRASKRas proto-oncogene, GTPase | Ofte (30–79 %) | I 3 tilstander |
| LIFRLIF receptor subunit alpha | Ofte (30–79 %) | I 1 tilstand |
| LMNAlamin A/C | Ofte (30–79 %) | I 2 tilstander |
| LSSlanosterol synthase | Ofte (30–79 %) | I 1 tilstand |
| LZTFL1leucine zipper transcription factor like 1 | Ofte (30–79 %) | I 2 tilstander |
| MIR17HGmiR-17-92a-1 cluster host gene | Ofte (30–79 %) | I 1 tilstand |
| MKKSMKKS centrosomal shuttling protein | Ofte (30–79 %) | I 2 tilstander |
| MKS1MKS transition zone complex subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| NEK1NIMA related kinase 1 | Ofte (30–79 %) | I 2 tilstander |
| NOTCH1notch receptor 1 | Ofte (30–79 %) | I 2 tilstander |
| NPHP1nephrocystin 1 | Ofte (30–79 %) | I 1 tilstand |
| NPR2natriuretic peptide receptor 2 | Ofte (30–79 %) | I 1 tilstand |
| PDE6Dphosphodiesterase 6D | Ofte (30–79 %) | I 1 tilstand |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Ofte (30–79 %) | I 1 tilstand |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Ofte (30–79 %) | I 1 tilstand |
| PIGSphosphatidylinositol glycan anchor biosynthesis class S | Ofte (30–79 %) | I 1 tilstand |
| PLXND1plexin D1 | Ofte (30–79 %) | I 1 tilstand |
| POGZpogo transposable element derived with ZNF domain | Ofte (30–79 %) | I 1 tilstand |
| PRKACBprotein kinase cAMP-activated catalytic subunit beta | Ofte (30–79 %) | I 1 tilstand |
| PTCH1patched 1 | Ofte (30–79 %) | I 2 tilstander |
| PTCH2patched 2 | Ofte (30–79 %) | I 1 tilstand |
| RAD21RAD21 cohesin complex component | Ofte (30–79 %) | I 2 tilstander |
| RAP1BRAP1B, member of RAS oncogene family | Ofte (30–79 %) | I 1 tilstand |
| RB1RB transcriptional corepressor 1 | Ofte (30–79 %) | I 1 tilstand |
| RBPJrecombination signal binding protein for immunoglobulin kappa J region | Ofte (30–79 %) | I 1 tilstand |
| RDH11retinol dehydrogenase 11 | Ofte (30–79 %) | I 1 tilstand |
| REV3LREV3 like, DNA directed polymerase zeta catalytic subunit | Ofte (30–79 %) | I 1 tilstand |
| RUNX2RUNX family transcription factor 2 | Ofte (30–79 %) | I 2 tilstander |
| SCAPERS-phase cyclin A associated protein in the ER | Ofte (30–79 %) | I 1 tilstand |
| SCLT1sodium channel and clathrin linker 1 | Ofte (30–79 %) | I 1 tilstand |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Ofte (30–79 %) | I 1 tilstand |
| SIL1SIL1 nucleotide exchange factor | Ofte (30–79 %) | I 1 tilstand |
| SIN3ASIN3 transcription regulator family member A | Ofte (30–79 %) | I 2 tilstander |
| SLC26A2solute carrier family 26 member 2 | Ofte (30–79 %) | I 4 tilstander |
| SMARCD2SWI/SNF related BAF chromatin remodeling complex subunit D2 | Ofte (30–79 %) | I 1 tilstand |
| SMG9SMG9 nonsense mediated mRNA decay factor | Ofte (30–79 %) | I 1 tilstand |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Ofte (30–79 %) | I 1 tilstand |
| SRCAPSnf2 related CREBBP activator protein | Ofte (30–79 %) | I 2 tilstander |
| SUFUSUFU negative regulator of hedgehog signaling | Ofte (30–79 %) | I 1 tilstand |
| TCTN3tectonic family member 3 | Ofte (30–79 %) | I 2 tilstander |
| TELO2telomere maintenance 2 | Ofte (30–79 %) | I 2 tilstander |
| TLK2tousled like kinase 2 | Ofte (30–79 %) | I 1 tilstand |
| TMEM216transmembrane protein 216 | Ofte (30–79 %) | I 1 tilstand |
| TMEM231transmembrane protein 231 | Ofte (30–79 %) | I 1 tilstand |
| TNXBtenascin XB | Ofte (30–79 %) | I 1 tilstand |
| TONSLtonsoku like, DNA repair protein | Ofte (30–79 %) | I 2 tilstander |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Ofte (30–79 %) | I 1 tilstand |
| TRA2Btransformer 2 beta homolog | Ofte (30–79 %) | I 1 tilstand |
| TRIM32tripartite motif containing 32 | Ofte (30–79 %) | I 1 tilstand |
| TTC8tetratricopeptide repeat domain 8 | Ofte (30–79 %) | I 1 tilstand |
| TWIST1twist family bHLH transcription factor 1 | Ofte (30–79 %) | I 3 tilstander |
| WDPCPWD repeat containing planar cell polarity effector | Ofte (30–79 %) | I 1 tilstand |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| ATRXATRX chromatin remodeler | Noen ganger (5–29 %) | I 2 tilstander |
| BAP1BRCA1 associated deubiquitinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| BHLHA9basic helix-loop-helix family member a9 | Noen ganger (5–29 %) | I 1 tilstand |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Noen ganger (5–29 %) | I 2 tilstander |
| CBLCbl proto-oncogene | Noen ganger (5–29 %) | I 1 tilstand |
| CCDC22CCC complex scaffolding subunit CCDC22 | Noen ganger (5–29 %) | I 1 tilstand |
| CHD7chromodomain helicase DNA binding protein 7 | Noen ganger (5–29 %) | I 1 tilstand |
| CHN1chimerin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CHRNA7cholinergic receptor nicotinic alpha 7 subunit | Noen ganger (5–29 %) | I 1 tilstand |
| CSNK2A1casein kinase 2 alpha 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CSPP1centrosome and spindle pole associated protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CUL4Bcullin 4B | Noen ganger (5–29 %) | I 1 tilstand |
| DDX3XDEAD-box helicase 3 X-linked | Noen ganger (5–29 %) | I 1 tilstand |
| DHCR77-dehydrocholesterol reductase | Noen ganger (5–29 %) | I 1 tilstand |
| DPYSL5dihydropyrimidinase like 5 | Noen ganger (5–29 %) | I 1 tilstand |
| EBF3EBF transcription factor 3 | Noen ganger (5–29 %) | I 1 tilstand |
| EPB41L1erythrocyte membrane protein band 4.1 like 1 | Noen ganger (5–29 %) | I 1 tilstand |
| EXT1exostosin glycosyltransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| FAM20CFAM20C golgi associated secretory pathway kinase | Noen ganger (5–29 %) | I 1 tilstand |
| FBXW11F-box and WD repeat domain containing 11 | Noen ganger (5–29 %) | I 1 tilstand |
| GJA1gap junction protein alpha 1 | Noen ganger (5–29 %) | I 2 tilstander |
| GJB3gap junction protein beta 3 | Noen ganger (5–29 %) | I 1 tilstand |
| GJB4gap junction protein beta 4 | Noen ganger (5–29 %) | I 1 tilstand |
| GNAS-AS1GNAS antisense RNA 1 | Noen ganger (5–29 %) | I 1 tilstand |
| HRASHRas proto-oncogene, GTPase | Noen ganger (5–29 %) | I 1 tilstand |
| KAT6Alysine acetyltransferase 6A | Noen ganger (5–29 %) | I 2 tilstander |
| KDSR3-ketodihydrosphingosine reductase | Noen ganger (5–29 %) | I 1 tilstand |
| KIAA0586KIAA0586 | Noen ganger (5–29 %) | I 1 tilstand |
| KIF26Akinesin family member 26A | Noen ganger (5–29 %) | I 1 tilstand |
| KLF13KLF transcription factor 13 | Noen ganger (5–29 %) | I 1 tilstand |
| LZTR1leucine zipper like post translational regulator 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MAFBMAF bZIP transcription factor B | Noen ganger (5–29 %) | I 1 tilstand |
| MAU2MAU2 sister chromatid cohesion factor | Noen ganger (5–29 %) | I 1 tilstand |
| MED12mediator complex subunit 12 | Noen ganger (5–29 %) | I 1 tilstand |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| MRASmuscle RAS oncogene homolog | Noen ganger (5–29 %) | I 1 tilstand |
| MSX2msh homeobox 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MYSM1Myb like, SWIRM and MPN domains 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NIPBLNIPBL cohesin loading factor | Noen ganger (5–29 %) | I 1 tilstand |
| NRASNRAS proto-oncogene, GTPase | Noen ganger (5–29 %) | I 1 tilstand |
| PDGFRBplatelet derived growth factor receptor beta | Noen ganger (5–29 %) | I 1 tilstand |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PNPLA6patatin like domain 6, lysophospholipase | Noen ganger (5–29 %) | I 1 tilstand |
| PORcytochrome p450 oxidoreductase | Noen ganger (5–29 %) | I 1 tilstand |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Noen ganger (5–29 %) | I 1 tilstand |
| PRKAR1Bprotein kinase cAMP-dependent type I regulatory subunit beta | Noen ganger (5–29 %) | I 1 tilstand |
| PTENphosphatase and tensin homolog | Noen ganger (5–29 %) | I 1 tilstand |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Noen ganger (5–29 %) | I 2 tilstander |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Noen ganger (5–29 %) | I 1 tilstand |
| RASA2RAS p21 protein activator 2 | Noen ganger (5–29 %) | I 1 tilstand |
| RHOAras homolog family member A | Noen ganger (5–29 %) | I 1 tilstand |
| RIN2Ras and Rab interactor 2 | Noen ganger (5–29 %) | I 2 tilstander |
| RIT1Ras like without CAAX 1 | Noen ganger (5–29 %) | I 1 tilstand |
| RNU5B-1RNA, U5B small nuclear 1 | Noen ganger (5–29 %) | I 1 tilstand |
| RRASRAS related | Noen ganger (5–29 %) | I 1 tilstand |
| RRAS2RAS related 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SALL4spalt like transcription factor 4 | Noen ganger (5–29 %) | I 1 tilstand |
| SEMA3Esemaphorin 3E | Noen ganger (5–29 %) | I 1 tilstand |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Noen ganger (5–29 %) | I 1 tilstand |
| SLC2A1solute carrier family 2 member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Noen ganger (5–29 %) | I 1 tilstand |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SPRED2sprouty related EVH1 domain containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| STX16syntaxin 16 | Noen ganger (5–29 %) | I 1 tilstand |
| TASP1taspase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TBX22T-box transcription factor 22 | Noen ganger (5–29 %) | I 1 tilstand |
| TCF12transcription factor 12 | Noen ganger (5–29 %) | I 2 tilstander |
| TRIOtrio Rho guanine nucleotide exchange factor | Noen ganger (5–29 %) | I 1 tilstand |
| TWIST2twist family bHLH transcription factor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| UPF3BUPF3B regulator of nonsense mediated mRNA decay | Noen ganger (5–29 %) | I 1 tilstand |
| VPS35LVPS35 endosomal protein sorting factor like | Noen ganger (5–29 %) | I 1 tilstand |
| WACWW domain containing adaptor with coiled-coil | Noen ganger (5–29 %) | I 1 tilstand |
| WASHC5WASH complex subunit 5 | Noen ganger (5–29 %) | I 1 tilstand |
| WDR11WD repeat domain 11 | Noen ganger (5–29 %) | I 1 tilstand |
| WNT4Wnt family member 4 | Noen ganger (5–29 %) | I 1 tilstand |
| ZDHHC9zDHHC palmitoyltransferase 9 | Noen ganger (5–29 %) | I 1 tilstand |
| ZIC1Zic family zinc finger 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ZRSR2zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ADNPactivity dependent neuroprotector homeobox | Sjelden (1–4%) | I 1 tilstand |
| ALG6ALG6 alpha-1,3-glucosyltransferase | Sjelden (1–4%) | I 1 tilstand |
| CDH11cadherin 11 | Sjelden (1–4%) | I 1 tilstand |
| GJA8gap junction protein alpha 8 | Sjelden (1–4%) | I 1 tilstand |
| PAHphenylalanine hydroxylase | Sjelden (1–4%) | I 1 tilstand |
| PGM3phosphoglucomutase 3 | Sjelden (1–4%) | I 1 tilstand |
| ARID1AAT-rich interaction domain 1A | Ikke registrert | I 1 tilstand |
| ARID2AT-rich interaction domain 2 | Ikke registrert | I 1 tilstand |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Ikke registrert | I 1 tilstand |
| BMP4bone morphogenetic protein 4 | Ikke registrert | I 1 tilstand |
| C12orf57chromosome 12 open reading frame 57 | Ikke registrert | I 1 tilstand |
| CAMK2Gcalcium/calmodulin dependent protein kinase II gamma | Ikke registrert | I 1 tilstand |
| CANT1calcium activated nucleotidase 1 | Ikke registrert | I 1 tilstand |
| CCDC28Bcoiled-coil domain containing 28B | Ikke registrert | I 1 tilstand |
| EHMT1euchromatic histone lysine methyltransferase 1 | Ikke registrert | I 1 tilstand |
| EVCEvC ciliary complex subunit 1 | Ikke registrert | I 1 tilstand |
| EVC2EvC ciliary complex subunit 2 | Ikke registrert | I 1 tilstand |
| FAM111AFAM111 trypsin like peptidase A | Ikke registrert | I 1 tilstand |
| GPX4glutathione peroxidase 4 | Ikke registrert | I 1 tilstand |
| HOXD13homeobox D13 | Ikke registrert | I 3 tilstander |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Ikke registrert | I 1 tilstand |
| IFT57intraflagellar transport 57 | Ikke registrert | I 1 tilstand |
| IFT81intraflagellar transport 81 | Ikke registrert | I 1 tilstand |
| KAT6Blysine acetyltransferase 6B | Ikke registrert | I 1 tilstand |
| KCNJ2potassium inwardly rectifying channel subfamily J member 2 | Ikke registrert | I 1 tilstand |
| KDM5Clysine demethylase 5C | Ikke registrert | I 1 tilstand |
| MAGEL2MAGE family member L2 | Ikke registrert | I 1 tilstand |
| MAP2K1mitogen-activated protein kinase kinase 1 | Ikke registrert | I 1 tilstand |
| PAPSS23'-phosphoadenosine 5'-phosphosulfate synthase 2 | Ikke registrert | I 1 tilstand |
| PAX3paired box 3 | Ikke registrert | I 1 tilstand |
| PIGKphosphatidylinositol glycan anchor biosynthesis class K | Ikke registrert | I 1 tilstand |
| POC1APOC1 centriolar protein A | Ikke registrert | I 1 tilstand |
| POMPproteasome maturation protein | Ikke registrert | I 1 tilstand |
| POP1POP1 ribonuclease P/MRP subunit | Ikke registrert | I 1 tilstand |
| PORCNporcupine O-acyltransferase | Ikke registrert | I 1 tilstand |
| PPM1Dprotein phosphatase, Mg2+/Mn2+ dependent 1D | Ikke registrert | I 1 tilstand |
| PTHLHparathyroid hormone like hormone | Ikke registrert | I 1 tilstand |
| RLIMring finger protein, LIM domain interacting | Ikke registrert | I 1 tilstand |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Ikke registrert | I 1 tilstand |
| SLC35D1solute carrier family 35 member D1 | Ikke registrert | I 1 tilstand |
| SLURP1secreted LY6/PLAUR domain containing 1 | Ikke registrert | I 1 tilstand |
| SMC1Astructural maintenance of chromosomes 1A | Ikke registrert | I 1 tilstand |
| SMC3structural maintenance of chromosomes 3 | Ikke registrert | I 1 tilstand |
| SPARTspartin | Ikke registrert | I 1 tilstand |
| STAMBPSTAM binding protein | Ikke registrert | I 1 tilstand |
| TGFBR2transforming growth factor beta receptor 2 | Ikke registrert | I 1 tilstand |
| TMEM67transmembrane protein 67 | Ikke registrert | I 1 tilstand |
| TNNT3troponin T3, fast skeletal type | Ikke registrert | I 1 tilstand |
| WNT7AWnt family member 7A | Ikke registrert | I 1 tilstand |
| YY1AP1YY1 associated protein 1 | Ikke registrert | I 1 tilstand |
| ZMIZ1zinc finger MIZ-type containing 1 | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
Smalere egenskaper
Bredere egenskaper
Slik er informasjonen samlet
- Human Phenotype Ontology, versjon 2026-09-01: egenskapen, navnene på den, definisjonen og genene som er knyttet til den. Les mer på hpo.jax.org.
- Datautgave 2026.10.19-9814e911.
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