AtlasKomu pomagamyNasza naukaProduktyWyniki
Zaloguj sięZapytajZsekwencjonuj swój genom↗
Cecha
Broad nasal tip
Increase in width of the nasal tip.
Podsumowanie
- Znana także jako
- Broad tip of nose, Broad upturned nose, Broad, upturned nose, Increased breadth of nasal tip, Increased breadth of tip of nose, Increased width of nasal tip, Increased width of tip of nose, Nasal tip, broad, Nasal tip, wide, Wide tip of nose
- Układ organizmu
- Abnormality of head or neck
AtlasKomu pomagamyNasza naukaProduktyWyniki
Zaloguj sięZapytajZsekwencjonuj swój genom↗
Ta strona jako dane
Aby odczytać ją jako JSON, dodaj .json na końcu adresu strony lub zażądaj application/json.
library(jsonlite)
url <- "https://dantelabs.com/traits/broad-nasal-tip.json"
page <- fromJSON(url)
page$trait$nameBroad nasal tipHP:0000455
AtlasKomu pomagamyNasza naukaProduktyWyniki
Zaloguj sięZapytajZsekwencjonuj swój genom↗
Odczytaj geny powiązane z Broad nasal tip oraz resztę swojego genomu za pomocą jednego badania.
Od 449 $Bezpłatna wysyłka · Wyniki w ciągu 6–8 tygodni
Zamawiam Genome Test83 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.
- Coffin-Siris SyndromeReads 11 of these genesARID2ARID1AARID1BDPF2SMARCA4SMARCB1About this report →
- Intellectual DisabilityReads 39 of these genesCDK10CTNNB1FOXP1GATAD2BNACC1PUF60About this report →
- Rhabdoid Tumour and SWI/SNF Tumour PredispositionReads 3 of these genesSMARCA4SMARCB1SMARCE1About this report →
- Cutis LaxaReads 6 of these genesLTBP1ATP6V0A2ATP6V1AATP6V1E1ELNEMILIN1About this report →
Show 79 more reports
- DOORS SyndromeReads 2 of these genesATP6V1B2TBC1D24About this report →
- GPI Anchor Biosynthesis DefectsReads 6 of these genesPGAP3PIGOPIGQPIGVGPAA1PGAP2About this report →
- Joubert Syndrome And Related DisordersReads 8 of these genesCPLANE1FAM149B1KIF7OFD1PDE6DTCTN3About this report →
- Cornelia de Lange SyndromeReads 3 of these genesHDAC8NIPBLSMC3About this report →
- Acromelic Frontonasal DysostosisReads 1 of these genesZSWIM6About this report →
- Amyotrophic Lateral Sclerosis Susceptibility 24 (NEK1)Reads 1 of these genesNEK1About this report →
- Au-Kline SyndromeReads 1 of these genesHNRNPKAbout this report →
- Chung-Jansen Syndrome (PHIP)Reads 1 of these genesPHIPAbout this report →
- CTNNB1 SyndromeReads 1 of these genesCTNNB1About this report →
- DeSanto-Shinawi SyndromeReads 1 of these genesWACAbout this report →
- EBF3-Related Neurodevelopmental Disorder (HADDS)Reads 1 of these genesEBF3About this report →
- Elsahy-Waters SyndromeReads 1 of these genesCDH11About this report →
- Floating-Harbor SyndromeReads 1 of these genesSRCAPAbout 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 with Alopecia and Genital Anomaly (ALX4)Reads 1 of these genesALX4About this report →
- FrontorhinyReads 1 of these genesALX3About this report →
- GM1 Gangliosidosis and Morquio B SyndromeReads 1 of these genesGLB1About this report →
- KCNH1-Related DisorderReads 1 of these genesKCNH1About this report →
- Microcornea-Myopic Chorioretinal AtrophyReads 1 of these genesADAMTS18About this report →
- Mucopolysaccharidosis Type I (Hurler and Scheie Syndromes)Reads 1 of these genesIDUAAbout this report →
- OFD1-Related CiliopathyReads 1 of these genesOFD1About this report →
- Primrose SyndromeReads 1 of these genesZBTB20About this report →
- Skraban-Deardorff SyndromeReads 1 of these genesWDR26About this report →
- Wiedemann-Steiner SyndromeReads 1 of these genesKMT2AAbout this report →
- X-Linked Chondrodysplasia Punctata 1Reads 1 of these genesARSLAbout this report →
- Syndromic Complex Neurodevelopmental DisorderReads 4 of these genesQRICH1RNU4-2ZFXZMYM2About this report →
- Microphthalmia, Anophthalmia & ColobomaReads 4 of these genesRAB3GAP1BCORRAB3GAP2RARBAbout this report →
- Activated PI3K-Delta Syndrome (APDS)Reads 1 of these genesPIK3CDAbout this report →
- Cantú SyndromeReads 1 of these genesABCC9About this report →
- Carey-Fineman-Ziter SyndromeReads 1 of these genesMYMKAbout this report →
- Enlarged Parietal Foramina (MSX2)Reads 1 of these genesALX4About this report →
- FLNB-Related Skeletal Dysplasia (Larsen Spectrum)Reads 1 of these genesFLNBAbout this report →
- Hereditary Multiple OsteochondromasReads 1 of these genesEXT2About this report →
- Kabuki SyndromeReads 1 of these genesKDM6AAbout this report →
- Malignant Hyperthermia SusceptibilityReads 1 of these genesRYR1About this report →
- Congenital Disorders of GlycosylationReads 7 of these genesPGAP3PIGOATP6V0A2EXT2PIGVCOG6About this report →
- Imprinting Disorders: Prader-Willi, Silver-Russell and Beckwith-WiedemannReads 2 of these genesNSD1SNRPNAbout this report →
- Lissencephaly Spectrum DisordersReads 3 of these genesRAB3GAP1ACTBRAB3GAP2About this report →
- Epilepsy (Full Panel)Reads 8 of these genesFBXO28NACC1PIGQATP6V1ADOCK7ATP6V1B2About this report →
- Immuno-Osseous DysplasiasReads 1 of these genesSMARCAL1About this report →
- Inherited Congenital Heart DefectsReads 2 of these genesELNTFAP2BAbout 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 genesSOX11About this report →
- NeurofibromatosisReads 1 of these genesSMARCB1About 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 →
- Noonan SyndromeReads 2 of these genesHRASNRASAbout this report →
- Syndromic CraniosynostosisReads 2 of these genesTWIST1KAT6AAbout this report →
- Growth Hormone Insensitivity & IGF-1 Axis DisordersReads 1 of these genesIGF1RAbout this report →
- Hypertrophic CardiomyopathyReads 3 of these genesNSD1HRASNRASAbout this report →
- Colorectal Cancer & PolyposisReads 1 of these genesAPCAbout this report →
- Diabetes MellitusReads 2 of these genesZBTB20EIF2S3About this report →
- Purine & Pyrimidine Metabolism DisordersReads 1 of these genesDPYDAbout this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 2 of these genesACTBTAF1About this report →
- Meckel SyndromeReads 1 of these genesTMEM231About this report →
- Hypogonadotropic HypogonadismReads 2 of these genesSNRPNRAB3GAP2About this report →
- Myofibrillar MyopathiesReads 1 of these genesRYR1About this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 2 of these genesTMEM216TMEM231About this report →
- Lysosomal Storage DiseaseReads 2 of these genesGLB1IDUAAbout this report →
- Glycogen Storage DiseaseReads 1 of these genesAGLAbout this report →
- Primary Lymphoedema & Lymphatic MalformationsReads 1 of these genesKIF11About this report →
- Charcot-Marie-Tooth DiseaseReads 2 of these genesEMILIN1AIFM1About this report →
- Retinitis PigmentosaReads 2 of these genesOFD1TOPORSAbout this report →
- Congenital MyopathiesReads 1 of these genesRYR1About this report →
- Hereditary Sensory and Autonomic Neuropathies (incl. Familial Dysautonomia)Reads 1 of these genesAIFM1About this report →
- Pontocerebellar Hypoplasia (TSEN54 and MINPP1)Reads 1 of these genesTOE1About this report →
- Hearing Loss and DeafnessReads 2 of these genesTBC1D24AIFM1About this report →
- Non-Acquired Combined Pituitary Hormone DeficiencyReads 1 of these genesGLI2About this report →
- VitreoretinopathyReads 1 of these genesCTNNB1About this report →
- Spinal Muscular AtrophyReads 1 of these genesEMILIN1About this report →
- Inherited ThrombocytopeniasReads 1 of these genesACTBAbout this report →
- Osteogenesis ImperfectaReads 1 of these genesATP6V0A2About this report →
- Inherited Neurodegenerative DisordersReads 3 of these genesEMILIN1TMEM216TMEM231About this report →
- Dilated CardiomyopathyReads 1 of these genesABCC9About this report →
- Other Inborn Errors of ImmunityReads 2 of these genesPIK3CDSMARCAL1About this report →
- Rare Hereditary Peripheral NeuropathiesReads 2 of these genesEMILIN1AIFM1About this report →
- Leigh SyndromeReads 1 of these genesAIFM1About this report →
- Primary Mitochondrial DiseaseReads 1 of these genesAIFM1About this report →
Odczytaj geny powiązane z Broad nasal tip oraz resztę swojego genomu za pomocą jednego badania.
Od 449 $Bezpłatna wysyłka · Wyniki w ciągu 6–8 tygodni
Zamawiam Genome Test172 genów powiązanych z Broad nasal tip
Zmiany w tych genach powodują rzadkie choroby, w których występuje Broad nasal tip. Większość osób z tą cechą nie ma żadnej z tych chorób, a gen z tej listy nic nie mówi o czyimkolwiek własnym genomie.
| Gen | Jak często występuje | Choroby |
|---|---|---|
| ARID2AT-rich interaction domain 2 | Zawsze | W 2 chorobach |
| CCNKcyclin K | Zawsze | W 1 chorobie |
| CDK10cyclin dependent kinase 10 | Zawsze | W 1 chorobie |
| CRNKL1crooked neck pre-mRNA splicing factor 1 | Zawsze | W 1 chorobie |
| CTNNB1catenin beta 1 | Zawsze | W 2 chorobach |
| CUL7cullin 7 | Zawsze | W 1 chorobie |
| EXOSC2exosome component 2 | Zawsze | W 1 chorobie |
| FBXO28F-box protein 28 | Zawsze | W 1 chorobie |
| FOXP1forkhead box P1 | Zawsze | W 2 chorobach |
| GATAD2BGATA zinc finger domain containing 2B | Zawsze | W 2 chorobach |
| JKAMPJNK1/MAPK8 associated membrane protein | Zawsze | W 1 chorobie |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Zawsze | W 1 chorobie |
| LTBP1latent transforming growth factor beta binding protein 1 | Zawsze | W 1 chorobie |
| MYMKmyomaker, myoblast fusion factor | Zawsze | W 1 chorobie |
| NACC1nucleus accumbens associated 1 | Zawsze | W 2 chorobach |
| NSD1nuclear receptor binding SET domain protein 1 | Zawsze | W 1 chorobie |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Zawsze | W 1 chorobie |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Zawsze | W 1 chorobie |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Zawsze | W 1 chorobie |
| POC1APOC1 centriolar protein A | Zawsze | W 1 chorobie |
| PUF60poly(U) binding splicing factor 60 | Zawsze | W 2 chorobach |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Zawsze | W 1 chorobie |
| RYR1ryanodine receptor 1 | Zawsze | W 1 chorobie |
| SATB2SATB homeobox 2 | Zawsze | W 1 chorobie |
| SH3PXD2BSH3 and PX domains 2B | Zawsze | W 1 chorobie |
| TBL1XR1TBL1X/Y related 1 | Zawsze | W 1 chorobie |
| TPRtranslocated promoter region, nuclear basket protein | Zawsze | W 1 chorobie |
| TWIST1twist family bHLH transcription factor 1 | Zawsze | W 1 chorobie |
| WASHC4WASH complex subunit 4 | Zawsze | W 1 chorobie |
| ACTBactin beta | Bardzo często (80–99%) | W 1 chorobie |
| ALX4ALX homeobox 4 | Bardzo często (80–99%) | W 1 chorobie |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Bardzo często (80–99%) | W 2 chorobach |
| ATP6V1AATPase H+ transporting V1 subunit A | Bardzo często (80–99%) | W 1 chorobie |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Bardzo często (80–99%) | W 2 chorobach |
| CDH11cadherin 11 | Bardzo często (80–99%) | W 2 chorobach |
| EXT2exostosin glycosyltransferase 2 | Bardzo często (80–99%) | W 1 chorobie |
| HDAC4histone deacetylase 4 | Bardzo często (80–99%) | W 1 chorobie |
| HDAC8histone deacetylase 8 | Bardzo często (80–99%) | W 2 chorobach |
| KAT6Alysine acetyltransferase 6A | Bardzo często (80–99%) | W 2 chorobach |
| KDM3Blysine demethylase 3B | Bardzo często (80–99%) | W 1 chorobie |
Pokaż jeszcze 132 genów
| Gen | Jak często występuje | Choroby |
|---|---|---|
| LAS1LLAS1 like ribosome biogenesis factor | Bardzo często (80–99%) | W 1 chorobie |
| LRP2LDL receptor related protein 2 | Bardzo często (80–99%) | W 1 chorobie |
| NIPBLNIPBL cohesin loading factor | Bardzo często (80–99%) | W 1 chorobie |
| PHF21APHD finger protein 21A | Bardzo często (80–99%) | W 1 chorobie |
| PHF8PHD finger protein 8 | Bardzo często (80–99%) | W 2 chorobach |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Bardzo często (80–99%) | W 1 chorobie |
| RNF135ring finger protein 135 | Bardzo często (80–99%) | W 1 chorobie |
| SETBP1SET binding protein 1 | Bardzo często (80–99%) | W 1 chorobie |
| SIX2SIX homeobox 2 | Bardzo często (80–99%) | W 1 chorobie |
| ZSWIM6zinc finger SWIM-type containing 6 | Bardzo często (80–99%) | W 2 chorobach |
| ABCC9ATP binding cassette subfamily C member 9 | Często (30–79%) | W 1 chorobie |
| ADAMTS18ADAM metallopeptidase with thrombospondin type 1 motif 18 | Często (30–79%) | W 1 chorobie |
| AHDC1AT-hook DNA binding motif containing 1 | Często (30–79%) | W 1 chorobie |
| APCAPC regulator of Wnt signaling pathway | Często (30–79%) | W 1 chorobie |
| ARID1AAT-rich interaction domain 1A | Często (30–79%) | W 1 chorobie |
| ARID1BAT-rich interaction domain 1B | Często (30–79%) | W 2 chorobach |
| ARSLarylsulfatase L | Często (30–79%) | W 1 chorobie |
| ASXL2ASXL transcriptional regulator 2 | Często (30–79%) | W 1 chorobie |
| BCORBCL6 corepressor | Często (30–79%) | W 1 chorobie |
| BORCS8BLOC-1 related complex subunit 8 | Często (30–79%) | W 1 chorobie |
| CASKcalcium/calmodulin dependent serine protein kinase | Często (30–79%) | W 2 chorobach |
| COG6component of oligomeric golgi complex 6 | Często (30–79%) | W 1 chorobie |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Często (30–79%) | W 2 chorobach |
| DOCK7dedicator of cytokinesis 7 | Często (30–79%) | W 2 chorobach |
| DPF2double PHD fingers 2 | Często (30–79%) | W 1 chorobie |
| DPYDdihydropyrimidine dehydrogenase | Często (30–79%) | W 1 chorobie |
| ELNelastin | Często (30–79%) | W 1 chorobie |
| EMILIN1elastin microfibril interfacer 1 | Często (30–79%) | W 1 chorobie |
| EXTL3exostosin like glycosyltransferase 3 | Często (30–79%) | W 1 chorobie |
| FAM149B1family with sequence similarity 149 member B1 | Często (30–79%) | W 1 chorobie |
| FREM1FRAS1 related extracellular matrix 1 | Często (30–79%) | W 1 chorobie |
| GPAA1glycosylphosphatidylinositol anchor attachment 1 | Często (30–79%) | W 1 chorobie |
| H4C3H4 clustered histone 3 | Często (30–79%) | W 1 chorobie |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Często (30–79%) | W 2 chorobach |
| HS2ST1heparan sulfate 2-O-sulfotransferase 1 | Często (30–79%) | W 1 chorobie |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Często (30–79%) | W 1 chorobie |
| IGF1Rinsulin like growth factor 1 receptor | Często (30–79%) | W 1 chorobie |
| KCNK9potassium two pore domain channel subfamily K member 9 | Często (30–79%) | W 1 chorobie |
| KIAA0753KIAA0753 | Często (30–79%) | W 1 chorobie |
| KIF7kinesin family member 7 | Często (30–79%) | W 1 chorobie |
| KMT2Alysine methyltransferase 2A | Często (30–79%) | W 1 chorobie |
| KNSTRNkinetochore localized astrin (SPAG5) binding protein | Często (30–79%) | W 1 chorobie |
| MCTP2multiple C2 and transmembrane domain containing 2 | Często (30–79%) | W 1 chorobie |
| MLXIPLMLX interacting protein like | Często (30–79%) | W 1 chorobie |
| NEK1NIMA related kinase 1 | Często (30–79%) | W 1 chorobie |
| OFD1OFD1 centriole and centriolar satellite protein | Często (30–79%) | W 1 chorobie |
| PDE6Dphosphodiesterase 6D | Często (30–79%) | W 1 chorobie |
| PGAP2post-GPI attachment to proteins 2 | Często (30–79%) | W 1 chorobie |
| PHIPPHIP subunit of CUL4-Ring ligase complex | Często (30–79%) | W 1 chorobie |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Często (30–79%) | W 1 chorobie |
| POGZpogo transposable element derived with ZNF domain | Często (30–79%) | W 2 chorobach |
| PORCNporcupine O-acyltransferase | Często (30–79%) | W 2 chorobach |
| PTPRFprotein tyrosine phosphatase receptor type F | Często (30–79%) | W 1 chorobie |
| QRICH1glutamine rich 1 | Często (30–79%) | W 1 chorobie |
| RPS6KA3ribosomal protein S6 kinase A3 | Często (30–79%) | W 1 chorobie |
| SETD2SET domain containing 2, histone lysine methyltransferase | Często (30–79%) | W 2 chorobach |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Często (30–79%) | W 1 chorobie |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Często (30–79%) | W 1 chorobie |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Często (30–79%) | W 1 chorobie |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Często (30–79%) | W 1 chorobie |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Często (30–79%) | W 1 chorobie |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Często (30–79%) | W 1 chorobie |
| SMC3structural maintenance of chromosomes 3 | Często (30–79%) | W 1 chorobie |
| SOX11SRY-box transcription factor 11 | Często (30–79%) | W 1 chorobie |
| SOX4SRY-box transcription factor 4 | Często (30–79%) | W 1 chorobie |
| TCTN3tectonic family member 3 | Często (30–79%) | W 1 chorobie |
| TFAP2Atranscription factor AP-2 alpha | Często (30–79%) | W 2 chorobach |
| TLK2tousled like kinase 2 | Często (30–79%) | W 1 chorobie |
| TMEM216transmembrane protein 216 | Często (30–79%) | W 1 chorobie |
| TMEM231transmembrane protein 231 | Często (30–79%) | W 1 chorobie |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Często (30–79%) | W 1 chorobie |
| WDR26WD repeat domain 26 | Często (30–79%) | W 1 chorobie |
| YY1YY1 transcription factor | Często (30–79%) | W 1 chorobie |
| ADNPactivity dependent neuroprotector homeobox | Czasami (5–29%) | W 1 chorobie |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Czasami (5–29%) | W 1 chorobie |
| BPTFbromodomain PHD finger transcription factor | Czasami (5–29%) | W 1 chorobie |
| CAPRIN1cell cycle associated protein 1 | Czasami (5–29%) | W 1 chorobie |
| CDC42BPBCDC42 binding protein kinase beta | Czasami (5–29%) | W 1 chorobie |
| CTCFCCCTC-binding factor | Czasami (5–29%) | W 2 chorobach |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Czasami (5–29%) | W 1 chorobie |
| EBF3EBF transcription factor 3 | Czasami (5–29%) | W 1 chorobie |
| FBXO11F-box protein 11 | Czasami (5–29%) | W 1 chorobie |
| GLB1galactosidase beta 1 | Czasami (5–29%) | W 1 chorobie |
| GLI2GLI family zinc finger 2 | Czasami (5–29%) | W 1 chorobie |
| GTF3C3general transcription factor IIIC subunit 3 | Czasami (5–29%) | W 1 chorobie |
| H4C5H4 clustered histone 5 | Czasami (5–29%) | W 1 chorobie |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Czasami (5–29%) | W 1 chorobie |
| KDM5Alysine demethylase 5A | Czasami (5–29%) | W 1 chorobie |
| KLHL20kelch like family member 20 | Czasami (5–29%) | W 1 chorobie |
| MAB21L1mab-21 like 1 | Czasami (5–29%) | W 1 chorobie |
| MAU2MAU2 sister chromatid cohesion factor | Czasami (5–29%) | W 1 chorobie |
| PPP2CAprotein phosphatase 2 catalytic subunit alpha | Czasami (5–29%) | W 1 chorobie |
| PRKAR1Bprotein kinase cAMP-dependent type I regulatory subunit beta | Czasami (5–29%) | W 1 chorobie |
| PRMT7protein arginine methyltransferase 7 | Czasami (5–29%) | W 1 chorobie |
| PURApurine rich element binding protein A | Czasami (5–29%) | W 1 chorobie |
| RFX7regulatory factor X7 | Czasami (5–29%) | W 1 chorobie |
| RHOBTB2Rho related BTB domain containing 2 | Czasami (5–29%) | W 1 chorobie |
| RNU4-2RNA, U4 small nuclear 2 | Czasami (5–29%) | W 1 chorobie |
| SETSET nuclear proto-oncogene | Czasami (5–29%) | W 1 chorobie |
| SMG9SMG9 nonsense mediated mRNA decay factor | Czasami (5–29%) | W 1 chorobie |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Czasami (5–29%) | W 1 chorobie |
| SRCAPSnf2 related CREBBP activator protein | Czasami (5–29%) | W 1 chorobie |
| SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit | Czasami (5–29%) | W 1 chorobie |
| TAF1TATA-box binding protein associated factor 1 | Czasami (5–29%) | W 2 chorobach |
| TBC1D24TBC1 domain family member 24 | Czasami (5–29%) | W 1 chorobie |
| TBX2T-box transcription factor 2 | Czasami (5–29%) | W 1 chorobie |
| TOE1target of EGR1, exonuclease | Czasami (5–29%) | W 1 chorobie |
| WACWW domain containing adaptor with coiled-coil | Czasami (5–29%) | W 1 chorobie |
| ZBTB20zinc finger and BTB domain containing 20 | Czasami (5–29%) | W 1 chorobie |
| ZFXzinc finger protein X-linked | Czasami (5–29%) | W 1 chorobie |
| ZMYM2zinc finger MYM-type containing 2 | Czasami (5–29%) | W 1 chorobie |
| AGLamylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase | Nie odnotowano | W 1 chorobie |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Nie odnotowano | W 1 chorobie |
| ALX3ALX homeobox 3 | Nie odnotowano | W 1 chorobie |
| ASXL3ASXL transcriptional regulator 3 | Nie odnotowano | W 1 chorobie |
| CCNQcyclin Q | Nie odnotowano | W 1 chorobie |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Nie odnotowano | W 1 chorobie |
| FLNBfilamin B | Nie odnotowano | W 1 chorobie |
| HRASHRas proto-oncogene, GTPase | Nie odnotowano | W 1 chorobie |
| IDUAalpha-L-iduronidase | Nie odnotowano | W 1 chorobie |
| KDM6Alysine demethylase 6A | Nie odnotowano | W 1 chorobie |
| KIF11kinesin family member 11 | Nie odnotowano | W 1 chorobie |
| KPTNkaptin, actin binding protein | Nie odnotowano | W 1 chorobie |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Nie odnotowano | W 1 chorobie |
| NRASNRAS proto-oncogene, GTPase | Nie odnotowano | W 1 chorobie |
| NXNnucleoredoxin | Nie odnotowano | W 1 chorobie |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Nie odnotowano | W 1 chorobie |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Nie odnotowano | W 1 chorobie |
| RARBretinoic acid receptor beta | Nie odnotowano | W 1 chorobie |
| TBC1D32TBC1 domain family member 32 | Nie odnotowano | W 1 chorobie |
| TFAP2Btranscription factor AP-2 beta | Nie odnotowano | W 1 chorobie |
| XRCC4X-ray repair cross complementing 4 | Nie odnotowano | W 1 chorobie |
Jak często występuje wśród osób z jedną z chorób związanych z tym genem, najczęściej spośród wszystkich, według danych Human Phenotype Ontology. Te strony opisują cechy i badania, na których się opierają; nie są diagnozą, a w sprawie objawów należy zwrócić się do lekarza lub doradcy genetycznego.
Cechy nadrzędne
Skąd pochodzą te dane
- Human Phenotype Ontology, wydanie 2026-09-01: cecha, jej nazwy, definicja oraz geny z nią powiązane. Więcej informacji znajdą Państwo na stronie hpo.jax.org.
- Wydanie danych 2026.10.19-9814e911.
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