AtlasVem vi hjälperVår vetenskapProdukterResultat
Logga inFrågaSekvensera ditt genom↗
Egenskap
Failure of development of between one and six teeth
Kliniskt namn: Hypodontia
The absence of five or less teeth from the normal series by a failure to develop.
Sammanfattning
- Även kallad
- Missing between one and six teeth
- Kroppssystem
- Abnormality of head or neck
AtlasVem vi hjälperVår vetenskapProdukterResultat
Logga inFrågaSekvensera ditt genom↗
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/hypodontia.json"
page <- fromJSON(url)
page$trait$nameVem vi hjälperVår vetenskapProdukterResultat
Logga inFrågaSekvensera ditt genom↗
Läs generna kopplade till Failure of development of between one and six teeth, och resten av ditt genom, med ett enda test.
Från 449 $Fri frakt · Resultat inom 6–8 veckor
Beställ mitt Genome Test116 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 genesBBS5ARL6BBIP1BBS1BBS10BBS12About this report →
- Epilepsy (Full Panel)Reads 51 of these genesCPLX1AARS1ACTL6BAP3B2ATP1A2ATP1A3About this report →
- Ellis-van Creveld Syndrome and Cranioectodermal DysplasiaReads 7 of these genesEVCEVC2IFT122IFT43IFT52WDR19About this report →
- Dyskeratosis CongenitaReads 12 of these genesACDCTC1DKC1NHP2NOP10NPM1About this report →
Show 112 more reports
- Ectodermal DysplasiasReads 10 of these genesEDAEDARADDIKBKGNECTIN1TP63TSPEARAbout this report →
- Hypodontia and AnodontiaReads 5 of these genesEDATSPEARWNT10ALRP6MSX1About this report →
- Familial Hemiplegic MigraineReads 3 of these genesATP1A2CACNA1ASCN1AAbout this report →
- Syndromic CraniosynostosisReads 7 of these genesFGFR3FGFR2IFT122IFT43IFT52WDR19About this report →
- Kabuki SyndromeReads 2 of these genesKDM6AKMT2DAbout this report →
- Hereditary Orofacial CleftingReads 3 of these genesMSX1GRHL3IRF6About this report →
- Immuno-Osseous DysplasiasReads 2 of these genesSMARCAL1RMRPAbout this report →
- Van der Woude and Popliteal Pterygium Syndromes (IRF6)Reads 2 of these genesGRHL3IRF6About this report →
- Familial Pulmonary FibrosisReads 3 of these genesPARNRTEL1TERTAbout this report →
- Aarskog-Scott SyndromeReads 1 of these genesFGD1About this report →
- Alzahrani-Kuwahara SyndromeReads 1 of these genesSMG8About this report →
- ATP1A2-Related Fetal Akinesia with PolymicrogyriaReads 1 of these genesATP1A2About this report →
- Bent Bone Dysplasia Syndrome (FGFR2)Reads 1 of these genesFGFR2About this report →
- Cenani-Lenz Syndactyly SyndromeReads 1 of these genesLRP4About this report →
- CEP290-Related CiliopathyReads 1 of these genesCEP290About this report →
- CTNNB1 SyndromeReads 1 of these genesCTNNB1About this report →
- Dravet SyndromeReads 1 of these genesSCN1AAbout this report →
- FGFR3-Related Chondrodysplasias (Achondroplasia and Related Conditions)Reads 1 of these genesFGFR3About this report →
- Focal Dermal Hypoplasia (Goltz Syndrome)Reads 1 of these genesPORCNAbout this report →
- IFAP Syndrome (MBTPS2)Reads 1 of these genesMBTPS2About this report →
- KCNH1-Related DisorderReads 1 of these genesKCNH1About this report →
- Labyrinthine Aplasia, Microtia and Microdontia (LAMM)Reads 1 of these genesFGF3About this report →
- Mitchell SyndromeReads 1 of these genesACOX1About this report →
- MTX2-Related Mandibuloacral DysplasiaReads 1 of these genesMTX2About this report →
- Mulibrey NanismReads 1 of these genesTRIM37About this report →
- OFD1-Related CiliopathyReads 1 of these genesOFD1About this report →
- PIK3R1-Related DisordersReads 1 of these genesPIK3R1About this report →
- POLR1C-Related DisorderReads 1 of these genesPOLR1CAbout this report →
- POLR3A-Related DisorderReads 1 of these genesPOLR3AAbout this report →
- POLR3B-Related DisorderReads 1 of these genesPOLR3BAbout this report →
- Primary Failure of Tooth EruptionReads 1 of these genesPTH1RAbout this report →
- Restrictive Dermopathy (ZMPSTE24)Reads 1 of these genesZMPSTE24About this report →
- Short-Rib Thoracic Dysplasia 7 (WDR35)Reads 1 of these genesWDR35About this report →
- Ulnar-Mammary SyndromeReads 1 of these genesTBX3About this report →
- Wiedemann-Steiner SyndromeReads 1 of these genesKMT2AAbout this report →
- X-linked Autoinflammatory DiseaseReads 1 of these genesIKBKGAbout this report →
- X-Linked Opitz G/BBB SyndromeReads 1 of these genesMID1About this report →
- Intellectual DisabilityReads 15 of these genesKDM6BCTNNB1NSD2PIGGPIGLRPS6KA3About this report →
- Retinitis PigmentosaReads 8 of these genesARL6BBS2CFAP418IFT172IFT43OFD1About this report →
- Hereditary Palmoplantar Keratodermas and Pachyonychia CongenitaReads 5 of these genesGRHL2WNT10AMBTPS2PERPTRPV3About this report →
- Pelizaeus-Merzbacher Disease & Hypomyelinating LeukodystrophiesReads 4 of these genesPOLR1CPOLR3APOLR3BPOLR3KAbout this report →
- Inherited Predisposition to Acute Myeloid LeukaemiaReads 2 of these genesTERCTERTAbout this report →
- Activated PI3K-Delta Syndrome (APDS)Reads 1 of these genesPIK3R1About this report →
- DOORS SyndromeReads 1 of these genesATP6V1B2About this report →
- FLNB-Related Skeletal Dysplasia (Larsen Spectrum)Reads 1 of these genesFLNBAbout this report →
- Hereditary Diffuse Gastric CancerReads 1 of these genesCDH1About this report →
- Other Inherited LeukodystrophiesReads 6 of these genesPOLR1CPOLR3APOLR3BPOLR3KAARS1NKX6-2About this report →
- Nephronophthisis and Senior-Løken SyndromeReads 3 of these genesNPHP1SDCCAG8WDR19About this report →
- Anterior Segment Dysgenesis, Axenfeld-Rieger Syndrome & AniridiaReads 2 of these genesFOXC1PITX2About this report →
- Complex Neurodevelopmental Disorder With Motor FeaturesReads 2 of these genesCACNA1ACACNA1BAbout this report →
- Imprinting Disorders: Prader-Willi, Silver-Russell and Beckwith-WiedemannReads 2 of these genesNSD1HMGA2About this report →
- Joubert Syndrome And Related DisordersReads 4 of these genesCEP290MKS1NPHP1OFD1About this report →
- Inherited Neurodegenerative DisordersReads 12 of these genesKIF1CLETM1POLR1CPOLR3APOLR3BCEP290About this report →
- VitreoretinopathyReads 3 of these genesIKBKGCTNNB1CTC1About this report →
- LipodystrophyReads 2 of these genesLMNAZMPSTE24About this report →
- Other Inborn Errors of ImmunityReads 8 of these genesIKBKGITPR3NCF1SMARCAL1BCL11BNFKBIAAbout this report →
- Congenital Disorders of GlycosylationReads 5 of these genesPIGGPIGLCHSY1DHDDSNUS1About this report →
- Cutis LaxaReads 2 of these genesELNATP6V1AAbout this report →
- Achondrogenesis panelReads 1 of these genesGDF5About this report →
- Carney Complex & Hereditary Adrenal Cushing SyndromeReads 1 of these genesPRKAR1AAbout this report →
- Hereditary Episodic AtaxiasReads 1 of these genesCACNA1AAbout this report →
- Multiple Synostoses Syndrome (FGF9)Reads 1 of these genesGDF5About this report →
- Overgrowth Syndromes (Sotos, Weaver, Tatton-Brown-Rahman, Malan)Reads 1 of these genesNSD1About this report →
- Pseudohypoparathyroidism & GNAS-Inactivation DisordersReads 1 of these genesPRKAR1AAbout this report →
- Treacher Collins SyndromeReads 1 of these genesPOLR1CAbout this report →
- Epidermolysis BullosaReads 2 of these genesCOL17A1LAMB3About this report →
- Hereditary Corneal DystrophiesReads 2 of these genesGRHL2COL17A1About this report →
- Charcot-Marie-Tooth DiseaseReads 4 of these genesPOLR3BITPR3AARS1LMNAAbout this report →
- GPI Anchor Biosynthesis DefectsReads 2 of these genesPIGGPIGLAbout this report →
- Ehlers-Danlos SyndromeReads 2 of these genesADAMTS2SLC39A13About this report →
- Lissencephaly Spectrum DisordersReads 2 of these genesCEP85LAPC2About this report →
- Chronic Granulomatous DiseaseReads 1 of these genesNCF1About this report →
- Peroxisomal Enzyme Disorders & Refsum DiseaseReads 1 of these genesACOX1About this report →
- Rare Inherited Bone Marrow Failure SyndromesReads 1 of these genesDNAJC21About this report →
- Colorectal Cancer & PolyposisReads 1 of these genesAPCAbout this report →
- Monogenic Obesity (Leptin-Melanocortin Pathway)Reads 1 of these genesCEP19About this report →
- GlaucomaReads 1 of these genesFOXC1About this report →
- Hereditary Sideroblastic AnaemiasReads 1 of these genesHSPA9About this report →
- Progressive Cardiac Conduction Disease & Sick Sinus SyndromeReads 1 of these genesLMNAAbout this report →
- Limb-Girdle Muscular DystrophyReads 2 of these genesTRIM32LMNAAbout this report →
- Osteogenesis ImperfectaReads 2 of these genesPOLR3AMBTPS2About this report →
- Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)Reads 2 of these genesATP1A3CACNA1AAbout this report →
- Breast and Ovarian Cancer Genes Beyond BRCA1/2Reads 1 of these genesCDH1About this report →
- Epiphyseal and Spondyloepiphyseal DysplasiasReads 1 of these genesXYLT1About this report →
- Agammaglobulinaemia (XLA and Autosomal Forms)Reads 1 of these genesPIK3R1About this report →
- Meckel SyndromeReads 1 of these genesMKS1About this report →
- Hereditary Optic NeuropathyReads 1 of these genesATP1A3About this report →
- Inherited Congenital Heart DefectsReads 1 of these genesELNAbout this report →
- OsteopetrosisReads 1 of these genesCTSKAbout this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 2 of these genesCEP290MKS1About this report →
- Rare Hereditary Peripheral NeuropathiesReads 4 of these genesPOLR3BITPR3AARS1LMNAAbout this report →
- Complex Cortical Dysplasia and Frontoparietal PolymicrogyriaReads 1 of these genesAPC2About this report →
- Parkinson DiseaseReads 1 of these genesSYNJ1About this report →
- Amelogenesis ImperfectaReads 1 of these genesLAMB3About this report →
- Autosomal Recessive Primary MicrocephalyReads 1 of these genesCEP152About this report →
- Congenital HypothyroidismReads 1 of these genesNKX2-1About this report →
- Leber Congenital Amaurosis & RPE65-Related RetinopathyReads 1 of these genesCEP290About this report →
- Hereditary Congenital & Juvenile CataractReads 1 of these genesLEMD2About this report →
- Inherited IchthyosesReads 1 of these genesCLDN1About this report →
- Non-Acquired Combined Pituitary Hormone DeficiencyReads 1 of these genesRBM28About this report →
- Congenital Myasthenic SyndromeReads 1 of these genesLRP4About this report →
- Severe Combined ImmunodeficiencyReads 1 of these genesBCL11BAbout this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 1 of these genesATP1A3About this report →
- Male InfertilityReads 1 of these genesFKBP6About this report →
- Dilated CardiomyopathyReads 1 of these genesLMNAAbout this report →
- Hypogonadotropic HypogonadismReads 1 of these genesRBM28About this report →
- Female InfertilityReads 1 of these genesTP63About this report →
- Lysosomal Storage DiseaseReads 1 of these genesCTSKAbout this report →
- Hypertrophic CardiomyopathyReads 1 of these genesNSD1About this report →
- Hereditary Spastic ParaplegiaReads 1 of these genesKIF1CAbout this report →
- Hearing Loss and DeafnessReads 1 of these genesGRHL2About this report →
- Primary Mitochondrial DiseaseReads 1 of these genesDNAJC30About this report →
Läs generna kopplade till Failure of development of between one and six teeth, och resten av ditt genom, med ett enda test.
Från 449 $Fri frakt · Resultat inom 6–8 veckor
Beställ mitt Genome Test242 gener kopplade till Failure of development of between one and six teeth
Förändringar i dessa gener orsakar sällsynta tillstånd där Failure of development of between one and six teeth 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 |
|---|---|---|
| AMOTL1angiomotin like 1 | Alltid | I 1 tillstånd |
| BBS5Bardet-Biedl syndrome 5 | Alltid | I 2 tillstånd |
| EDAectodysplasin A | Alltid | I 2 tillstånd |
| EDARADDEDAR associated via death domain | Alltid | I 5 tillstånd |
| GRHL2grainyhead like transcription factor 2 | Alltid | I 1 tillstånd |
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Alltid | I 4 tillstånd |
| IRX5iroquois homeobox 5 | Alltid | I 1 tillstånd |
| KDM6Blysine demethylase 6B | Alltid | I 1 tillstånd |
| LEMD2LEM domain nuclear envelope protein 2 | Alltid | I 1 tillstånd |
| NECTIN1nectin cell adhesion molecule 1 | Alltid | I 4 tillstånd |
| PPP2R3Cprotein phosphatase 2 regulatory subunit B''gamma | Alltid | I 1 tillstånd |
| PTBP1polypyrimidine tract binding protein 1 | Alltid | I 1 tillstånd |
| TP63tumor protein p63 | Alltid | I 7 tillstånd |
| TSPEARthrombospondin type laminin G domain and EAR repeats | Alltid | I 1 tillstånd |
| UBE3Cubiquitin protein ligase E3C | Alltid | I 1 tillstånd |
| WNT10AWnt family member 10A | Alltid | I 3 tillstånd |
| ACOX1acyl-CoA oxidase 1 | Mycket ofta (80–99 %) | I 1 tillstånd |
| CPLX1complexin 1 | Mycket ofta (80–99 %) | I 2 tillstånd |
| CTBP1C-terminal binding protein 1 | Mycket ofta (80–99 %) | I 2 tillstånd |
| CTNNB1catenin beta 1 | Mycket ofta (80–99 %) | I 1 tillstånd |
| EDARectodysplasin A receptor | Mycket ofta (80–99 %) | I 3 tillstånd |
| EVCEvC ciliary complex subunit 1 | Mycket ofta (80–99 %) | I 3 tillstånd |
| EVC2EvC ciliary complex subunit 2 | Mycket ofta (80–99 %) | I 3 tillstånd |
| FGFR3fibroblast growth factor receptor 3 | Mycket ofta (80–99 %) | I 2 tillstånd |
| KDF1keratinocyte differentiation factor 1 | Mycket ofta (80–99 %) | I 1 tillstånd |
| KIF1Ckinesin family member 1C | Mycket ofta (80–99 %) | I 1 tillstånd |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Mycket ofta (80–99 %) | I 2 tillstånd |
| LRP6LDL receptor related protein 6 | Mycket ofta (80–99 %) | I 1 tillstånd |
| MSX1msh homeobox 1 | Mycket ofta (80–99 %) | I 4 tillstånd |
| NELFAnegative elongation factor complex member A | Mycket ofta (80–99 %) | I 1 tillstånd |
| NSD1nuclear receptor binding SET domain protein 1 | Mycket ofta (80–99 %) | I 2 tillstånd |
| NSD2nuclear receptor binding SET domain protein 2 | Mycket ofta (80–99 %) | I 2 tillstånd |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Mycket ofta (80–99 %) | I 1 tillstånd |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Mycket ofta (80–99 %) | I 1 tillstånd |
| POLR1CRNA polymerase I and III subunit C | Mycket ofta (80–99 %) | I 1 tillstånd |
| POLR3ARNA polymerase III subunit A | Mycket ofta (80–99 %) | I 5 tillstånd |
| POLR3BRNA polymerase III subunit B | Mycket ofta (80–99 %) | I 2 tillstånd |
| RPS6KA3ribosomal protein S6 kinase A3 | Mycket ofta (80–99 %) | I 2 tillstånd |
| TRAF6TNF receptor associated factor 6 | Mycket ofta (80–99 %) | I 1 tillstånd |
| ACDACD shelterin complex subunit and telomerase recruitment factor | Ofta (30–79 %) | I 1 tillstånd |
Visa 202 gener till
| Gen | Hur ofta den förekommer | Tillstånd |
|---|---|---|
| ADAMTS2ADAM metallopeptidase with thrombospondin type 1 motif 2 | Ofta (30–79 %) | I 2 tillstånd |
| ARL6ARF like GTPase 6 | Ofta (30–79 %) | I 2 tillstånd |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Ofta (30–79 %) | I 1 tillstånd |
| BBIP1BBSome interacting protein 1 | Ofta (30–79 %) | I 1 tillstånd |
| BBS1Bardet-Biedl syndrome 1 | Ofta (30–79 %) | I 2 tillstånd |
| BBS10Bardet-Biedl syndrome 10 | Ofta (30–79 %) | I 1 tillstånd |
| BBS12Bardet-Biedl syndrome 12 | Ofta (30–79 %) | I 1 tillstånd |
| BBS2Bardet-Biedl syndrome 2 | Ofta (30–79 %) | I 1 tillstånd |
| BBS4Bardet-Biedl syndrome 4 | Ofta (30–79 %) | I 1 tillstånd |
| BBS7Bardet-Biedl syndrome 7 | Ofta (30–79 %) | I 1 tillstånd |
| BBS9Bardet-Biedl syndrome 9 | Ofta (30–79 %) | I 1 tillstånd |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Ofta (30–79 %) | I 1 tillstånd |
| CEP19centrosomal protein 19 | Ofta (30–79 %) | I 1 tillstånd |
| CEP290centrosomal protein 290 | Ofta (30–79 %) | I 1 tillstånd |
| CFAP418cilia and flagella associated protein 418 | Ofta (30–79 %) | I 2 tillstånd |
| CHSY1chondroitin sulfate synthase 1 | Ofta (30–79 %) | I 1 tillstånd |
| CLDN1claudin 1 | Ofta (30–79 %) | I 2 tillstånd |
| CLIP2CAP-Gly domain containing linker protein 2 | Ofta (30–79 %) | I 1 tillstånd |
| CTC1CST telomere replication complex component 1 | Ofta (30–79 %) | I 1 tillstånd |
| DDX59DEAD-box helicase 59 | Ofta (30–79 %) | I 2 tillstånd |
| DKC1dyskerin pseudouridine synthase 1 | Ofta (30–79 %) | I 1 tillstånd |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Ofta (30–79 %) | I 1 tillstånd |
| DYNC2LI1dynein cytoplasmic 2 light intermediate chain 1 | Ofta (30–79 %) | I 2 tillstånd |
| EIF4Heukaryotic translation initiation factor 4H | Ofta (30–79 %) | I 1 tillstånd |
| ELNelastin | Ofta (30–79 %) | I 2 tillstånd |
| FGFR2fibroblast growth factor receptor 2 | Ofta (30–79 %) | I 2 tillstånd |
| FGFRL1fibroblast growth factor receptor like 1 | Ofta (30–79 %) | I 1 tillstånd |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Ofta (30–79 %) | I 1 tillstånd |
| GDF5growth differentiation factor 5 | Ofta (30–79 %) | I 1 tillstånd |
| GLI1GLI family zinc finger 1 | Ofta (30–79 %) | I 1 tillstånd |
| GTF2Igeneral transcription factor IIi | Ofta (30–79 %) | I 1 tillstånd |
| GTF2IRD1GTF2I repeat domain containing 1 | Ofta (30–79 %) | I 1 tillstånd |
| GTF2IRD2GTF2I repeat domain containing 2 | Ofta (30–79 %) | I 1 tillstånd |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Ofta (30–79 %) | I 1 tillstånd |
| IFT122intraflagellar transport 122 | Ofta (30–79 %) | I 2 tillstånd |
| IFT172intraflagellar transport 172 | Ofta (30–79 %) | I 1 tillstånd |
| IFT27intraflagellar transport 27 | Ofta (30–79 %) | I 1 tillstånd |
| IFT43intraflagellar transport 43 | Ofta (30–79 %) | I 1 tillstånd |
| IFT52intraflagellar transport 52 | Ofta (30–79 %) | I 1 tillstånd |
| IFT74intraflagellar transport 74 | Ofta (30–79 %) | I 1 tillstånd |
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Ofta (30–79 %) | I 1 tillstånd |
| KDM6Alysine demethylase 6A | Ofta (30–79 %) | I 2 tillstånd |
| KMT2Alysine methyltransferase 2A | Ofta (30–79 %) | I 1 tillstånd |
| KMT2Dlysine methyltransferase 2D | Ofta (30–79 %) | I 1 tillstånd |
| LIMK1LIM domain kinase 1 | Ofta (30–79 %) | I 1 tillstånd |
| LZTFL1leucine zipper transcription factor like 1 | Ofta (30–79 %) | I 1 tillstånd |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Ofta (30–79 %) | I 1 tillstånd |
| METTL27methyltransferase like 27 | Ofta (30–79 %) | I 1 tillstånd |
| MKKSMKKS centrosomal shuttling protein | Ofta (30–79 %) | I 1 tillstånd |
| MKS1MKS transition zone complex subunit 1 | Ofta (30–79 %) | I 1 tillstånd |
| MLXIPLMLX interacting protein like | Ofta (30–79 %) | I 1 tillstånd |
| NCF1neutrophil cytosolic factor 1 | Ofta (30–79 %) | I 1 tillstånd |
| NHP2NHP2 ribonucleoprotein | Ofta (30–79 %) | I 1 tillstånd |
| NOP10NOP10 ribonucleoprotein | Ofta (30–79 %) | I 1 tillstånd |
| NPHP1nephrocystin 1 | Ofta (30–79 %) | I 1 tillstånd |
| NPM1nucleophosmin 1 | Ofta (30–79 %) | I 1 tillstånd |
| OFD1OFD1 centriole and centriolar satellite protein | Ofta (30–79 %) | I 1 tillstånd |
| OTUD5OTU deubiquitinase 5 | Ofta (30–79 %) | I 1 tillstånd |
| PARNpoly(A)-specific ribonuclease | Ofta (30–79 %) | I 1 tillstånd |
| PERPp53 apoptosis effector related to PMP22 | Ofta (30–79 %) | I 1 tillstånd |
| POLR3KRNA polymerase III subunit K | Ofta (30–79 %) | I 1 tillstånd |
| PORCNporcupine O-acyltransferase | Ofta (30–79 %) | I 2 tillstånd |
| PRKACAprotein kinase cAMP-activated catalytic subunit alpha | Ofta (30–79 %) | I 1 tillstånd |
| PRKACBprotein kinase cAMP-activated catalytic subunit beta | Ofta (30–79 %) | I 2 tillstånd |
| PUS7pseudouridine synthase 7 | Ofta (30–79 %) | I 1 tillstånd |
| RBM28RNA binding motif protein 28 | Ofta (30–79 %) | I 2 tillstånd |
| RFC2replication factor C subunit 2 | Ofta (30–79 %) | I 1 tillstånd |
| RTEL1regulator of telomere elongation helicase 1 | Ofta (30–79 %) | I 1 tillstånd |
| SCAPERS-phase cyclin A associated protein in the ER | Ofta (30–79 %) | I 1 tillstånd |
| SCLT1sodium channel and clathrin linker 1 | Ofta (30–79 %) | I 1 tillstånd |
| SCNM1sodium channel modifier 1 | Ofta (30–79 %) | I 1 tillstånd |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Ofta (30–79 %) | I 1 tillstånd |
| STX1Asyntaxin 1A | Ofta (30–79 %) | I 1 tillstånd |
| TBL2transducin beta like 2 | Ofta (30–79 %) | I 1 tillstånd |
| TERCtelomerase RNA component | Ofta (30–79 %) | I 1 tillstånd |
| TERTtelomerase reverse transcriptase | Ofta (30–79 %) | I 1 tillstånd |
| TINF2TERF1 interacting nuclear factor 2 | Ofta (30–79 %) | I 1 tillstånd |
| TMEM270transmembrane protein 270 | Ofta (30–79 %) | I 1 tillstånd |
| TRIM32tripartite motif containing 32 | Ofta (30–79 %) | I 1 tillstånd |
| TRPV3transient receptor potential cation channel subfamily V member 3 | Ofta (30–79 %) | I 1 tillstånd |
| TTC8tetratricopeptide repeat domain 8 | Ofta (30–79 %) | I 1 tillstånd |
| TYMSthymidylate synthetase | Ofta (30–79 %) | I 1 tillstånd |
| USB1U6 snRNA biogenesis phosphodiesterase 1 | Ofta (30–79 %) | I 1 tillstånd |
| VPS37DVPS37D subunit of ESCRT-I | Ofta (30–79 %) | I 1 tillstånd |
| WDPCPWD repeat containing planar cell polarity effector | Ofta (30–79 %) | I 1 tillstånd |
| WDR19WD repeat domain 19 | Ofta (30–79 %) | I 1 tillstånd |
| WDR35WD repeat domain 35 | Ofta (30–79 %) | I 1 tillstånd |
| WRAP53WD repeat containing antisense to TP53 | Ofta (30–79 %) | I 1 tillstånd |
| AARS1alanyl-tRNA synthetase 1 | Ibland (5–29 %) | I 1 tillstånd |
| ACTL6Bactin like 6B | Ibland (5–29 %) | I 1 tillstånd |
| ADAMTSL2ADAMTS like 2 | Ibland (5–29 %) | I 1 tillstånd |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Ibland (5–29 %) | I 1 tillstånd |
| APCAPC regulator of Wnt signaling pathway | Ibland (5–29 %) | I 1 tillstånd |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Ibland (5–29 %) | I 1 tillstånd |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Ibland (5–29 %) | I 1 tillstånd |
| ATP6V1AATPase H+ transporting V1 subunit A | Ibland (5–29 %) | I 1 tillstånd |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Ibland (5–29 %) | I 1 tillstånd |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Ibland (5–29 %) | I 1 tillstånd |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Ibland (5–29 %) | I 1 tillstånd |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Ibland (5–29 %) | I 1 tillstånd |
| CDK19cyclin dependent kinase 19 | Ibland (5–29 %) | I 1 tillstånd |
| CELF2CUGBP Elav-like family member 2 | Ibland (5–29 %) | I 1 tillstånd |
| CEP152centrosomal protein 152 | Ibland (5–29 %) | I 1 tillstånd |
| CEP85Lcentrosomal protein 85L | Ibland (5–29 %) | I 1 tillstånd |
| CKAP2Lcytoskeleton associated protein 2L | Ibland (5–29 %) | I 1 tillstånd |
| CLTCclathrin heavy chain | Ibland (5–29 %) | I 1 tillstånd |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Ibland (5–29 %) | I 1 tillstånd |
| CREBBPCREB binding lysine acetyltransferase | Ibland (5–29 %) | I 2 tillstånd |
| CTSKcathepsin K | Ibland (5–29 %) | I 2 tillstånd |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Ibland (5–29 %) | I 1 tillstånd |
| DALRD3DALR anticodon binding domain containing 3 | Ibland (5–29 %) | I 1 tillstånd |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Ibland (5–29 %) | I 1 tillstånd |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Ibland (5–29 %) | I 1 tillstånd |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Ibland (5–29 %) | I 1 tillstånd |
| DNM1dynamin 1 | Ibland (5–29 %) | I 1 tillstånd |
| DVL1dishevelled segment polarity protein 1 | Ibland (5–29 %) | I 1 tillstånd |
| DVL3dishevelled segment polarity protein 3 | Ibland (5–29 %) | I 1 tillstånd |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Ibland (5–29 %) | I 1 tillstånd |
| EP300EP300 lysine acetyltransferase | Ibland (5–29 %) | I 1 tillstånd |
| FBXO28F-box protein 28 | Ibland (5–29 %) | I 1 tillstånd |
| FGF10fibroblast growth factor 10 | Ibland (5–29 %) | I 1 tillstånd |
| FGF12fibroblast growth factor 12 | Ibland (5–29 %) | I 1 tillstånd |
| FGF3fibroblast growth factor 3 | Ibland (5–29 %) | I 1 tillstånd |
| FOSL2FOS like 2, AP-1 transcription factor subunit | Ibland (5–29 %) | I 1 tillstånd |
| FOXC1forkhead box C1 | Ibland (5–29 %) | I 2 tillstånd |
| FOXG1forkhead box G1 | Ibland (5–29 %) | I 1 tillstånd |
| FZD2frizzled class receptor 2 | Ibland (5–29 %) | I 1 tillstånd |
| FZR1fizzy and cell division cycle 20 related 1 | Ibland (5–29 %) | I 1 tillstånd |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Ibland (5–29 %) | I 1 tillstånd |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Ibland (5–29 %) | I 1 tillstånd |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Ibland (5–29 %) | I 1 tillstånd |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Ibland (5–29 %) | I 1 tillstånd |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Ibland (5–29 %) | I 1 tillstånd |
| GRHL3grainyhead like transcription factor 3 | Ibland (5–29 %) | I 2 tillstånd |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Ibland (5–29 %) | I 1 tillstånd |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Ibland (5–29 %) | I 1 tillstånd |
| HMGA2high mobility group AT-hook 2 | Ibland (5–29 %) | I 1 tillstånd |
| IRF6interferon regulatory factor 6 | Ibland (5–29 %) | I 4 tillstånd |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Ibland (5–29 %) | I 1 tillstånd |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Ibland (5–29 %) | I 1 tillstånd |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Ibland (5–29 %) | I 1 tillstånd |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Ibland (5–29 %) | I 1 tillstånd |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Ibland (5–29 %) | I 1 tillstånd |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Ibland (5–29 %) | I 1 tillstånd |
| LEMD3LEM domain containing 3 | Ibland (5–29 %) | I 1 tillstånd |
| LMNAlamin A/C | Ibland (5–29 %) | I 1 tillstånd |
| LRP4LDL receptor related protein 4 | Ibland (5–29 %) | I 2 tillstånd |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Ibland (5–29 %) | I 1 tillstånd |
| MTX2metaxin 2 | Ibland (5–29 %) | I 1 tillstånd |
| NECAP1NECAP endocytosis associated 1 | Ibland (5–29 %) | I 1 tillstånd |
| NKX6-2NK6 homeobox 2 | Ibland (5–29 %) | I 1 tillstånd |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Ibland (5–29 %) | I 1 tillstånd |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Ibland (5–29 %) | I 1 tillstånd |
| NXNnucleoredoxin | Ibland (5–29 %) | I 1 tillstånd |
| PACS2phosphofurin acidic cluster sorting protein 2 | Ibland (5–29 %) | I 1 tillstånd |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Ibland (5–29 %) | I 1 tillstånd |
| PITX2paired like homeodomain 2 | Ibland (5–29 %) | I 2 tillstånd |
| POLR1ARNA polymerase I subunit A | Ibland (5–29 %) | I 1 tillstånd |
| POP1POP1 ribonuclease P/MRP subunit | Ibland (5–29 %) | I 1 tillstånd |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Ibland (5–29 %) | I 1 tillstånd |
| RNF13ring finger protein 13 | Ibland (5–29 %) | I 1 tillstånd |
| ROR2ROR family WNT receptor 2 | Ibland (5–29 %) | I 1 tillstånd |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Ibland (5–29 %) | I 1 tillstånd |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Ibland (5–29 %) | I 1 tillstånd |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Ibland (5–29 %) | I 1 tillstånd |
| SCUBE3signal peptide, CUB domain and EGF like domain containing 3 | Ibland (5–29 %) | I 1 tillstånd |
| SLC13A5solute carrier family 13 member 5 | Ibland (5–29 %) | I 2 tillstånd |
| SLC1A2solute carrier family 1 member 2 | Ibland (5–29 %) | I 1 tillstånd |
| SLC38A3solute carrier family 38 member 3 | Ibland (5–29 %) | I 1 tillstånd |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Ibland (5–29 %) | I 1 tillstånd |
| SMG8SMG8 nonsense mediated mRNA decay factor | Ibland (5–29 %) | I 1 tillstånd |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Ibland (5–29 %) | I 1 tillstånd |
| SYNJ1synaptojanin 1 | Ibland (5–29 %) | I 1 tillstånd |
| SZT2SZT2 subunit of KICSTOR complex | Ibland (5–29 %) | I 1 tillstånd |
| TBX3T-box transcription factor 3 | Ibland (5–29 %) | I 2 tillstånd |
| TRAK1trafficking kinesin protein 1 | Ibland (5–29 %) | I 1 tillstånd |
| TWIST2twist family bHLH transcription factor 2 | Ibland (5–29 %) | I 1 tillstånd |
| UBA5ubiquitin like modifier activating enzyme 5 | Ibland (5–29 %) | I 1 tillstånd |
| UFSP2UFM1 specific peptidase 2 | Ibland (5–29 %) | I 1 tillstånd |
| WNT5AWnt family member 5A | Ibland (5–29 %) | I 1 tillstånd |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Ibland (5–29 %) | I 1 tillstånd |
| ZMPSTE24zinc metallopeptidase STE24 | Ibland (5–29 %) | I 1 tillstånd |
| APC2APC regulator of Wnt signaling pathway 2 | Sällan (1–4%) | I 1 tillstånd |
| MID1midline 1 | Sällan (1–4%) | I 1 tillstånd |
| NKX2-1NK2 homeobox 1 | Sällan (1–4%) | I 1 tillstånd |
| TAF11TATA-box binding protein associated factor 11 | Sällan (1–4%) | I 1 tillstånd |
| BCL11BBCL11 transcription factor B | Inte registrerat | I 1 tillstånd |
| CCDC28Bcoiled-coil domain containing 28B | Inte registrerat | I 1 tillstånd |
| CDH1cadherin 1 | Inte registrerat | I 1 tillstånd |
| COL17A1collagen type XVII alpha 1 chain | Inte registrerat | I 1 tillstånd |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Inte registrerat | I 1 tillstånd |
| FLNBfilamin B | Inte registrerat | I 1 tillstånd |
| HSPA9heat shock protein family A (Hsp70) member 9 | Inte registrerat | I 1 tillstånd |
| LAMB3laminin subunit beta 3 | Inte registrerat | I 1 tillstånd |
| NFKBIANFKB inhibitor alpha | Inte registrerat | I 1 tillstånd |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Inte registrerat | I 1 tillstånd |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Inte registrerat | I 1 tillstånd |
| PTH1Rparathyroid hormone 1 receptor | Inte registrerat | I 1 tillstånd |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Inte registrerat | I 1 tillstånd |
| SLC39A13solute carrier family 39 member 13 | Inte registrerat | I 1 tillstånd |
| TRIM37tripartite motif containing 37 | Inte registrerat | I 1 tillstånd |
| XYLT1xylosyltransferase 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.
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 2026.10.18-8b139e39.
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