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PrisijungtiKlaustiSekvenuokite savo genomą↗
Požymis
Umbilical hernia
Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.
Santrauka
- Taip pat vadinama
- Umbilical hernias
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Ši puslapis kaip duomenys
Norėdami perskaityti jį kaip JSON, pridėkite .json prie puslapio adreso arba nurodykite application/json.
library(jsonlite)
url <- "https://dantelabs.com/traits/umbilical-hernia.json"
page <- fromJSON(url)
page$trait$nameUmbilical herniaHP:0001537
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Vienu tyrimu sužinokite genus, susijusius su Umbilical hernia, ir kitą jūsų genomo dalį.
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Įsigyti savo Genome Test142 condition reports read genes linked to this trait
Dante Labs condition reports look at the genes behind groups of inherited conditions, read from one whole-genome test. Each page says which conditions and genes a report covers, how it is read and what it cannot tell you.
- Fanconi AnemiaReads 18 of these genesBRCA1BRCA2BRIP1ERCC4FANCAFANCBAbout this report →
- DNA Repair DiseaseReads 21 of these genesBRCA1BRCA2BRIP1ERCC2ERCC3ERCC4About this report →
- Congenital HypothyroidismReads 13 of these genesNKX2-5PAX8DUOX2DUOXA2FOXE1IYDAbout this report →
- Ehlers-Danlos SyndromeReads 12 of these genesADAMTS2AEBP1FKBP14C1RC1SCOL1A1About this report →
Show 138 more reports
- Thyroid CancerReads 12 of these genesNKX2-5PAX8DUOX2DUOXA2IYDSLC26A4About this report →
- Intellectual DisabilityReads 31 of these genesBCL11BCHAMP1HIVEP2PIGLSMARCA2TFE3About this report →
- Cutis LaxaReads 8 of these genesATP6V0A2ATP7ALTBP4RIN2ELNALDH18A1About this report →
- Overgrowth Syndromes (Sotos, Weaver, Tatton-Brown-Rahman, Malan)Reads 4 of these genesNSD1DNMT3ANFIXEZH2About this report →
- Marfan Like SyndromesReads 6 of these genesFBN1SKISMAD2SMAD3BGNTGFBR2About this report →
- Fraser SyndromeReads 3 of these genesFRAS1FREM2GRIP1About this report →
- Hereditary Visceral Myopathy, CIPO & MMIHSReads 4 of these genesFLNAACTG2MYH11MYLKAbout this report →
- Epilepsy (Full Panel)Reads 22 of these genesDEPDC5FLNAAARS1PIGSARXCACNA1EAbout this report →
- Achondrogenesis panelReads 3 of these genesSLC26A2TRIP11COL2A1About this report →
- Syndromic Complex Neurodevelopmental DisorderReads 7 of these genesPAN2TFE3ZFXBRPF1RNU4-2SETD5About this report →
- Cantú SyndromeReads 2 of these genesABCC9KCNJ8About this report →
- Hereditary Breast and Ovarian Cancer (BRCA1/2)Reads 2 of these genesBRCA1BRCA2About this report →
- Inherited Congenital Heart DefectsReads 5 of these genesFLNANKX2-5ELNGATA6NOTCH1About this report →
- Non-Acquired Combined Pituitary Hormone DeficiencyReads 7 of these genesPTCH1HESX1LHX3LHX4POU1F1PROP1About this report →
- Neonatal Diabetes MellitusReads 6 of these genesABCC8KCNJ11ZFP57GATA6GLIS3BSCL2About this report →
- Loeys-Dietz SyndromeReads 3 of these genesSMAD2SMAD3TGFBR2About this report →
- Congenital Disorders of GlycosylationReads 12 of these genesATP6V0A2PIGWSLC35D1PIGLB3GLCTDLL3About this report →
- Lysosomal Storage DiseaseReads 9 of these genesGUSBIDUAAGAARSBGNPTABSGSHAbout this report →
- Alpha-Mannosidosis and Other GlycoproteinosesReads 3 of these genesAGAMAN2B1NEU1About this report →
- GPI Anchor Biosynthesis DefectsReads 5 of these genesPIGWPIGLPIGSPIGPPIGQAbout this report →
- Aortic AneurysmReads 4 of these genesFBN1MYH11MYLKTGFBR2About this report →
- Diabetes MellitusReads 6 of these genesABCC8KCNJ11ZFP57GATA6GLIS3BSCL2About this report →
- Osteogenesis ImperfectaReads 6 of these genesATP6V0A2BMP1PPIBCOL1A1TENT5AMBTPS2About this report →
- Breast and Ovarian Cancer Genes Beyond BRCA1/2Reads 3 of these genesBRIP1PALB2RAD51CAbout this report →
- Imprinting Disorders: Prader-Willi, Silver-Russell and Beckwith-WiedemannReads 3 of these genesNSD1H19IGF2About this report →
- Hereditary Episodic AtaxiasReads 2 of these genesKCNA1SCN2AAbout this report →
- 22q11.2 Deletion SyndromeReads 1 of these genesTBX1About this report →
- 3MC Syndrome 1 (MASP1)Reads 1 of these genesMASP1About this report →
- Aarskog-Scott SyndromeReads 1 of these genesFGD1About this report →
- Bent Bone Dysplasia Syndrome (FGFR2)Reads 1 of these genesFGFR2About this report →
- Caffey DiseaseReads 1 of these genesCOL1A1About this report →
- Catel-Manzke SyndromeReads 1 of these genesTGDSAbout this report →
- CHARGE SyndromeReads 1 of these genesCHD7About this report →
- CHRNG-Related Multiple Pterygium SyndromeReads 1 of these genesCHRNGAbout this report →
- Craniofrontonasal SyndromeReads 1 of these genesEFNB1About this report →
- DICER1 Tumour PredispositionReads 1 of these genesDICER1About this report →
- Dyssegmental Dysplasia, Silverman-Handmaker TypeReads 1 of these genesHSPG2About this report →
- Elsahy-Waters SyndromeReads 1 of these genesCDH11About this report →
- FANCM-Related Genomic Instability DisorderReads 1 of these genesFANCMAbout 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 →
- GAPO SyndromeReads 1 of these genesANTXR1About this report →
- Greig Cephalopolysyndactyly SyndromeReads 1 of these genesGLI3About this report →
- Hajdu-Cheney SyndromeReads 1 of these genesNOTCH2About this report →
- Hyperekplexia 3 (SLC6A5)Reads 1 of these genesSLC6A5About this report →
- IFAP Syndrome (MBTPS2)Reads 1 of these genesMBTPS2About this report →
- IFT140-Related CiliopathyReads 1 of these genesIFT140About this report →
- KCNH1-Related DisorderReads 1 of these genesKCNH1About this report →
- Marshall-Smith SyndromeReads 1 of these genesNFIXAbout this report →
- Mucopolysaccharidosis Type I (Hurler and Scheie Syndromes)Reads 1 of these genesIDUAAbout this report →
- Mucopolysaccharidosis Type II (Hunter Syndrome)Reads 1 of these genesIDSAbout this report →
- Mucopolysaccharidosis Type VI (Maroteaux-Lamy Syndrome)Reads 1 of these genesARSBAbout this report →
- Mucopolysaccharidosis Type VII (Sly Syndrome)Reads 1 of these genesGUSBAbout this report →
- P5CS Deficiency (ALDH18A1-Related)Reads 1 of these genesALDH18A1About this report →
- PALB2 related diseasesReads 1 of these genesPALB2About this report →
- Pendred SyndromeReads 1 of these genesSLC26A4About this report →
- Schwartz-Jampel Syndrome Type 1Reads 1 of these genesHSPG2About this report →
- Simpson-Golabi-Behmel SyndromeReads 1 of these genesGPC3About this report →
- Snijders Blok-Campeau SyndromeReads 1 of these genesCHD3About this report →
- Townes-Brocks SyndromeReads 1 of these genesSALL1About this report →
- TRIM8-Related Neurodevelopmental and Kidney DisorderReads 1 of these genesTRIM8About this report →
- UNC13A-Related Neurodevelopmental DisordersReads 1 of these genesUNC13AAbout this report →
- X-Linked Opitz G/BBB SyndromeReads 1 of these genesMID1About this report →
- Hypogonadotropic HypogonadismReads 6 of these genesHESX1LHX3LHX4POU1F1PROP1CHD7About this report →
- Dyskeratosis CongenitaReads 4 of these genesCDCA7DNMT3BHELLSZBTB24About this report →
- Syndromic CraniosynostosisReads 4 of these genesSKIFGFR2MEGF8RAB23About this report →
- Adams-Oliver SyndromeReads 2 of these genesEOGTNOTCH1About this report →
- Hereditary Orofacial CleftingReads 2 of these genesIRF6MSX1About this report →
- Activated PI3K-Delta Syndrome (APDS)Reads 1 of these genesPIK3CDAbout this report →
- Alagille SyndromeReads 1 of these genesNOTCH2About this report →
- Cerebral Arteriopathy with Subcortical Infarcts and LeukoencephalopathyReads 1 of these genesNOTCH3About this report →
- Dent Disease and Lowe SyndromeReads 1 of these genesOCRLAbout this report →
- FLNB-Related Skeletal Dysplasia (Larsen Spectrum)Reads 1 of these genesGZF1About this report →
- Fontaine Progeroid SyndromeReads 1 of these genesSLC25A24About this report →
- Lung CancerReads 1 of these genesDICER1About this report →
- Müllerian Aplasia (MRKH Syndrome)Reads 1 of these genesTBX6About this report →
- Nevoid Basal Cell Carcinoma (Gorlin) SyndromeReads 1 of these genesPTCH1About this report →
- Otospondylomegaepiphyseal Dysplasia (OSMED)Reads 1 of these genesCOL2A1About this report →
- PRR12-Related Neuroocular SyndromeReads 1 of these genesPRR12About this report →
- TRIP11-Related Skeletal DysplasiaReads 1 of these genesTRIP11About this report →
- Epiphyseal and Spondyloepiphyseal DysplasiasReads 2 of these genesSLC26A2COL2A1About this report →
- Lissencephaly Spectrum DisordersReads 3 of these genesACTBAPC2ARXAbout this report →
- Familial HypomagnesemiaReads 2 of these genesCLDN19TRPV6About this report →
- HyperinsulinismReads 2 of these genesABCC8KCNJ11About this report →
- Coffin-Siris SyndromeReads 2 of these genesARID2ARID1BAbout this report →
- LipodystrophyReads 2 of these genesAGPAT2BSCL2About this report →
- Maturity-Onset Diabetes Of The YoungReads 2 of these genesABCC8KCNJ11About this report →
- Disorder of Copper MetabolismReads 1 of these genesATP7AAbout this report →
- HyperthyroidismReads 1 of these genesTSHRAbout this report →
- Leukocyte Adhesion DeficiencyReads 1 of these genesSLC35C1About this report →
- Monogenic Precocious PubertyReads 1 of these genesDLK1About this report →
- Mucolipidoses (ML II, ML III and ML IV)Reads 1 of these genesGNPTABAbout this report →
- Tetralogy of FallotReads 1 of these genesNKX2-5About this report →
- Van der Woude and Popliteal Pterygium Syndromes (IRF6)Reads 1 of these genesIRF6About this report →
- Complex Cortical Dysplasia and Frontoparietal PolymicrogyriaReads 2 of these genesTUBBAPC2About this report →
- Inherited ThrombocytopeniasReads 3 of these genesACTBGP1BBRAP1BAbout this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 3 of these genesTOR1AACTBPNKPAbout this report →
- Complex Neurodevelopmental Disorder (TRRAP, MYH10, RERE, SOX11)Reads 1 of these genesTRRAPAbout this report →
- Molybdenum Cofactor & Isolated Sulfite Oxidase DeficiencyReads 1 of these genesGPHNAbout this report →
- Mucopolysaccharidosis Type III (Sanfilippo Syndrome)Reads 1 of these genesSGSHAbout this report →
- TubulinopathiesReads 1 of these genesTUBBAbout this report →
- Ectodermal DysplasiasReads 2 of these genesTP63NECTIN1About this report →
- Charcot-Marie-Tooth DiseaseReads 4 of these genesATP7AAARS1BSCL2FBLN5About this report →
- MTOR Pathway Megalencephaly and Overgrowth DisordersReads 1 of these genesMTORAbout this report →
- PancreatitisReads 1 of these genesTRPV6About this report →
- Periventricular Nodular HeterotopiaReads 1 of these genesFLNAAbout this report →
- Chronic Granulomatous DiseaseReads 1 of these genesNCF1About this report →
- Syndromic and Metabolic CardiomyopathiesReads 1 of these genesNKX2-5About this report →
- Rare Hereditary Peripheral NeuropathiesReads 6 of these genesFBXL4ATP7AAARS1PNKPBSCL2FBLN5About this report →
- Hypertrophic CardiomyopathyReads 3 of these genesNSD1H19IGF2About this report →
- Microphthalmia, Anophthalmia & ColobomaReads 2 of these genesBCORERCC2About this report →
- Spinal Muscular AtrophyReads 2 of these genesATP7ABSCL2About this report →
- Hypodontia and AnodontiaReads 1 of these genesMSX1About this report →
- Disorders of Glycine & Serine MetabolismReads 1 of these genesPHGDHAbout this report →
- Other Inborn Errors of ImmunityReads 5 of these genesBCL11BPIK3CDC1SNCF1TBX1About this report →
- Hereditary Palmoplantar Keratodermas and Pachyonychia CongenitaReads 2 of these genesGJA1MBTPS2About this report →
- Inherited Platelet Function DisordersReads 1 of these genesGP1BBAbout this report →
- Inherited Neurodegenerative DisordersReads 6 of these genesATP7AAARS1NALCNPNKPALDH18A1BSCL2About this report →
- Male InfertilityReads 2 of these genesFANCMFKBP6About this report →
- Polycystic Kidney DiseaseReads 1 of these genesIFT140About this report →
- Female InfertilityReads 2 of these genesTP63FANCMAbout this report →
- Primary Mitochondrial DiseaseReads 3 of these genesFBXL4DNAJC30TMEM70About this report →
- Primary Lymphoedema & Lymphatic MalformationsReads 1 of these genesCCBE1About this report →
- Hereditary Spastic ParaplegiaReads 2 of these genesALDH18A1BSCL2About this report →
- Inherited Complement and Properdin DeficienciesReads 1 of these genesC1SAbout this report →
- 46,XY Differences of Sex Development and Gonadal DysgenesisReads 1 of these genesATRXAbout this report →
- Autoimmune DiseaseReads 1 of these genesCHRNGAbout this report →
- Inherited IchthyosesReads 1 of these genesNSDHLAbout this report →
- VitreoretinopathyReads 1 of these genesCOL2A1About this report →
- Severe Combined ImmunodeficiencyReads 1 of these genesBCL11BAbout this report →
- Joubert Syndrome And Related DisordersReads 1 of these genesKIF7About this report →
- Dilated CardiomyopathyReads 1 of these genesABCC9About this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 1 of these genesPNKPAbout this report →
- Leigh SyndromeReads 1 of these genesFBXL4About this report →
- Other Inherited LeukodystrophiesReads 1 of these genesAARS1About this report →
- Retinitis PigmentosaReads 1 of these genesIFT140About this report →
- Hearing Loss and DeafnessReads 1 of these genesSLC26A4About this report →
Vienu tyrimu sužinokite genus, susijusius su Umbilical hernia, ir kitą jūsų genomo dalį.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites
Įsigyti savo Genome Test330 genų susiję su Umbilical hernia
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Umbilical hernia. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| ADAMTS2ADAM metallopeptidase with thrombospondin type 1 motif 2 | Visada | 2 ligose |
| AMOTL1angiomotin like 1 | Visada | 1 ligoje |
| ARID2AT-rich interaction domain 2 | Visada | 1 ligoje |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Visada | 2 ligose |
| BCL11BBCL11 transcription factor B | Visada | 1 ligoje |
| BMP1bone morphogenetic protein 1 | Visada | 1 ligoje |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Visada | 1 ligoje |
| EEDembryonic ectoderm development | Visada | 1 ligoje |
| EN1engrailed homeobox 1 | Visada | 1 ligoje |
| FBN1fibrillin 1 | Visada | 2 ligose |
| FBXL4F-box and leucine rich repeat protein 4 | Visada | 1 ligoje |
| FLNAfilamin A | Visada | 2 ligose |
| GUSBglucuronidase beta | Visada | 2 ligose |
| IDUAalpha-L-iduronidase | Visada | 2 ligose |
| IFT140intraflagellar transport 140 | Visada | 1 ligoje |
| KDM2Blysine demethylase 2B | Visada | 1 ligoje |
| LBRlamin B receptor | Visada | 1 ligoje |
| MTORmechanistic target of rapamycin kinase | Visada | 1 ligoje |
| NSD1nuclear receptor binding SET domain protein 1 | Visada | 2 ligose |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Visada | 1 ligoje |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Visada | 1 ligoje |
| PRKG2protein kinase cGMP-dependent 2 | Visada | 1 ligoje |
| PTBP1polypyrimidine tract binding protein 1 | Visada | 1 ligoje |
| SLC35D1solute carrier family 35 member D1 | Visada | 1 ligoje |
| UNC13Aunc-13 homolog A | Visada | 1 ligoje |
| ADAMTSL2ADAMTS like 2 | Labai dažnai (80–99%) | 1 ligoje |
| AGAaspartylglucosaminidase | Labai dažnai (80–99%) | 1 ligoje |
| ARSBarylsulfatase B | Labai dažnai (80–99%) | 1 ligoje |
| ATP7AATPase copper transporting alpha | Labai dažnai (80–99%) | 1 ligoje |
| ELMO2engulfment and cell motility 2 | Labai dažnai (80–99%) | 1 ligoje |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Labai dažnai (80–99%) | 2 ligose |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Labai dažnai (80–99%) | 3 ligose |
| HYMAIhydatidiform mole associated and imprinted | Labai dažnai (80–99%) | 2 ligose |
| ISL1ISL LIM homeobox 1 | Labai dažnai (80–99%) | 1 ligoje |
| NKX2-5NK2 homeobox 5 | Labai dažnai (80–99%) | 2 ligose |
| PAX8paired box 8 | Labai dažnai (80–99%) | 3 ligose |
| PLAGL1PLAG1 like zinc finger 1 | Labai dažnai (80–99%) | 2 ligose |
| PPP2R3Cprotein phosphatase 2 regulatory subunit B''gamma | Labai dažnai (80–99%) | 1 ligoje |
| PTCH1patched 1 | Labai dažnai (80–99%) | 1 ligoje |
| SLC25A24solute carrier family 25 member 24 | Labai dažnai (80–99%) | 3 ligose |
Rodyti dar 290 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| TP63tumor protein p63 | Labai dažnai (80–99%) | 2 ligose |
| ABCC8ATP binding cassette subfamily C member 8 | Dažnai (30–79%) | 1 ligoje |
| ABCC9ATP binding cassette subfamily C member 9 | Dažnai (30–79%) | 2 ligose |
| AEBP1AE binding protein 1 | Dažnai (30–79%) | 2 ligose |
| ANTXR1ANTXR cell adhesion molecule 1 | Dažnai (30–79%) | 2 ligose |
| ATAD1ATPase family AAA domain containing 1 | Dažnai (30–79%) | 2 ligose |
| CHAMP1chromosome alignment maintaining phosphoprotein 1 | Dažnai (30–79%) | 1 ligoje |
| CHRNGcholinergic receptor nicotinic gamma subunit | Dažnai (30–79%) | 2 ligose |
| COX11cytochrome c oxidase copper chaperone COX11 | Dažnai (30–79%) | 1 ligoje |
| DICER1dicer 1, ribonuclease III | Dažnai (30–79%) | 1 ligoje |
| DLK1delta like non-canonical Notch ligand 1 | Dažnai (30–79%) | 2 ligose |
| DUOX2dual oxidase 2 | Dažnai (30–79%) | 2 ligose |
| DUOXA2dual oxidase maturation factor 2 | Dažnai (30–79%) | 1 ligoje |
| DVL1dishevelled segment polarity protein 1 | Dažnai (30–79%) | 3 ligose |
| DVL3dishevelled segment polarity protein 3 | Dažnai (30–79%) | 1 ligoje |
| EOGTEGF domain specific O-linked N-acetylglucosamine transferase | Dažnai (30–79%) | 1 ligoje |
| FKBP14FKBP prolyl isomerase 14 | Dažnai (30–79%) | 1 ligoje |
| FOCADfocadhesin | Dažnai (30–79%) | 1 ligoje |
| FOXE1forkhead box E1 | Dažnai (30–79%) | 1 ligoje |
| FTOFTO alpha-ketoglutarate dependent dioxygenase | Dažnai (30–79%) | 1 ligoje |
| FZD2frizzled class receptor 2 | Dažnai (30–79%) | 1 ligoje |
| GLRA1glycine receptor alpha 1 | Dažnai (30–79%) | 2 ligose |
| GLRBglycine receptor beta | Dažnai (30–79%) | 1 ligoje |
| GPC3glypican 3 | Dažnai (30–79%) | 2 ligose |
| GPC4glypican 4 | Dažnai (30–79%) | 1 ligoje |
| GPHNgephyrin | Dažnai (30–79%) | 2 ligose |
| H4C3H4 clustered histone 3 | Dažnai (30–79%) | 1 ligoje |
| HDAC4histone deacetylase 4 | Dažnai (30–79%) | 1 ligoje |
| HESX1HESX homeobox 1 | Dažnai (30–79%) | 1 ligoje |
| HIVEP2HIVEP zinc finger 2 | Dažnai (30–79%) | 1 ligoje |
| IPO8importin 8 | Dažnai (30–79%) | 1 ligoje |
| IYDiodotyrosine deiodinase | Dažnai (30–79%) | 1 ligoje |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Dažnai (30–79%) | 1 ligoje |
| KCNJ8potassium inwardly rectifying channel subfamily J member 8 | Dažnai (30–79%) | 1 ligoje |
| KIF7kinesin family member 7 | Dažnai (30–79%) | 1 ligoje |
| KNSTRNkinetochore localized astrin (SPAG5) binding protein | Dažnai (30–79%) | 2 ligose |
| LHX3LIM homeobox 3 | Dažnai (30–79%) | 1 ligoje |
| LHX4LIM homeobox 4 | Dažnai (30–79%) | 1 ligoje |
| LRP2LDL receptor related protein 2 | Dažnai (30–79%) | 2 ligose |
| LTBP4latent transforming growth factor beta binding protein 4 | Dažnai (30–79%) | 1 ligoje |
| MEG3maternally expressed 3 | Dažnai (30–79%) | 2 ligose |
| MYH3myosin heavy chain 3 | Dažnai (30–79%) | 1 ligoje |
| NKX2-1NK2 homeobox 1 | Dažnai (30–79%) | 1 ligoje |
| NOTCH3notch receptor 3 | Dažnai (30–79%) | 2 ligose |
| NXNnucleoredoxin | Dažnai (30–79%) | 1 ligoje |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Dažnai (30–79%) | 1 ligoje |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Dažnai (30–79%) | 2 ligose |
| POLR3GLRNA polymerase III subunit GL | Dažnai (30–79%) | 1 ligoje |
| POU1F1POU class 1 homeobox 1 | Dažnai (30–79%) | 1 ligoje |
| PPIBpeptidylprolyl isomerase B | Dažnai (30–79%) | 1 ligoje |
| PROP1PROP paired-like homeobox 1 | Dažnai (30–79%) | 1 ligoje |
| PRR12proline rich 12 | Dažnai (30–79%) | 1 ligoje |
| RIN2Ras and Rab interactor 2 | Dažnai (30–79%) | 2 ligose |
| RNF2ring finger protein 2 | Dažnai (30–79%) | 1 ligoje |
| ROR2ROR family WNT receptor 2 | Dažnai (30–79%) | 2 ligose |
| RTL1retrotransposon Gag like 1 | Dažnai (30–79%) | 2 ligose |
| SEC31ASEC31 homolog A, COPII component | Dažnai (30–79%) | 1 ligoje |
| SGSHN-sulfoglucosamine sulfohydrolase | Dažnai (30–79%) | 1 ligoje |
| SKISKI proto-oncogene | Dažnai (30–79%) | 2 ligose |
| SLC26A2solute carrier family 26 member 2 | Dažnai (30–79%) | 2 ligose |
| SLC26A4solute carrier family 26 member 4 | Dažnai (30–79%) | 1 ligoje |
| SLC5A5solute carrier family 5 member 5 | Dažnai (30–79%) | 2 ligose |
| SLC6A5solute carrier family 6 member 5 | Dažnai (30–79%) | 1 ligoje |
| SMAD2SMAD family member 2 | Dažnai (30–79%) | 1 ligoje |
| SMAD3SMAD family member 3 | Dažnai (30–79%) | 2 ligose |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Dažnai (30–79%) | 1 ligoje |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Dažnai (30–79%) | 1 ligoje |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Dažnai (30–79%) | 1 ligoje |
| TFE3transcription factor binding to IGHM enhancer 3 | Dažnai (30–79%) | 1 ligoje |
| TGthyroglobulin | Dažnai (30–79%) | 1 ligoje |
| TOR1Atorsin family 1 member A | Dažnai (30–79%) | 1 ligoje |
| TPOthyroid peroxidase | Dažnai (30–79%) | 1 ligoje |
| TRIP11thyroid hormone receptor interactor 11 | Dažnai (30–79%) | 1 ligoje |
| TSHBthyroid stimulating hormone subunit beta | Dažnai (30–79%) | 2 ligose |
| TSHRthyroid stimulating hormone receptor | Dažnai (30–79%) | 2 ligose |
| TWIST2twist family bHLH transcription factor 2 | Dažnai (30–79%) | 1 ligoje |
| WNT5AWnt family member 5A | Dažnai (30–79%) | 2 ligose |
| ZFP57ZFP57 zinc finger protein | Dažnai (30–79%) | 1 ligoje |
| ZFXzinc finger protein X-linked | Dažnai (30–79%) | 1 ligoje |
| AARS1alanyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| ACTBactin beta | Kartais (5–29%) | 1 ligoje |
| ACTG2actin gamma 2, smooth muscle | Kartais (5–29%) | 2 ligose |
| ARVCFARVCF delta catenin family member | Kartais (5–29%) | 1 ligoje |
| AUTS2activator of transcription and developmental regulator AUTS2 | Kartais (5–29%) | 2 ligose |
| B3GLCTbeta 3-glucosyltransferase | Kartais (5–29%) | 2 ligose |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Kartais (5–29%) | 1 ligoje |
| BCORBCL6 corepressor | Kartais (5–29%) | 1 ligoje |
| BGNbiglycan | Kartais (5–29%) | 1 ligoje |
| BRCA1BRCA1 DNA repair associated | Kartais (5–29%) | 1 ligoje |
| BRCA2BRCA2 DNA repair associated | Kartais (5–29%) | 1 ligoje |
| BRIP1BRCA1 interacting DNA helicase 1 | Kartais (5–29%) | 1 ligoje |
| BRPF1bromodomain and PHD finger containing 1 | Kartais (5–29%) | 1 ligoje |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Kartais (5–29%) | 1 ligoje |
| C1Rcomplement C1r | Kartais (5–29%) | 1 ligoje |
| C1Scomplement C1s | Kartais (5–29%) | 1 ligoje |
| CAPRIN1cell cycle associated protein 1 | Kartais (5–29%) | 1 ligoje |
| CARS1cysteinyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| CDCA7cell division cycle associated 7 | Kartais (5–29%) | 1 ligoje |
| CHD7chromodomain helicase DNA binding protein 7 | Kartais (5–29%) | 2 ligose |
| CILK1ciliogenesis associated kinase 1 | Kartais (5–29%) | 1 ligoje |
| CLDN19claudin 19 | Kartais (5–29%) | 1 ligoje |
| CLIP2CAP-Gly domain containing linker protein 2 | Kartais (5–29%) | 1 ligoje |
| COL1A1collagen type I alpha 1 chain | Kartais (5–29%) | 1 ligoje |
| COL3A1collagen type III alpha 1 chain | Kartais (5–29%) | 1 ligoje |
| COL5A1collagen type V alpha 1 chain | Kartais (5–29%) | 2 ligose |
| COL5A2collagen type V alpha 2 chain | Kartais (5–29%) | 1 ligoje |
| COLEC10collectin subfamily member 10 | Kartais (5–29%) | 1 ligoje |
| COLEC11collectin subfamily member 11 | Kartais (5–29%) | 1 ligoje |
| COMTcatechol-O-methyltransferase | Kartais (5–29%) | 1 ligoje |
| CREBBPCREB binding lysine acetyltransferase | Kartais (5–29%) | 2 ligose |
| CSNK2A1casein kinase 2 alpha 1 | Kartais (5–29%) | 1 ligoje |
| DBR1debranching RNA lariats 1 | Kartais (5–29%) | 1 ligoje |
| DGCR2DiGeorge syndrome critical region gene 2 | Kartais (5–29%) | 1 ligoje |
| DGCR6DiGeorge syndrome critical region gene 6 | Kartais (5–29%) | 1 ligoje |
| DGCR8DGCR8 microprocessor complex subunit | Kartais (5–29%) | 1 ligoje |
| DLL3delta like canonical Notch ligand 3 | Kartais (5–29%) | 1 ligoje |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Kartais (5–29%) | 1 ligoje |
| DNMT3ADNA methyltransferase 3 alpha | Kartais (5–29%) | 2 ligose |
| DNMT3BDNA methyltransferase 3 beta | Kartais (5–29%) | 1 ligoje |
| EIF4Heukaryotic translation initiation factor 4H | Kartais (5–29%) | 1 ligoje |
| ELNelastin | Kartais (5–29%) | 2 ligose |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Kartais (5–29%) | 1 ligoje |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Kartais (5–29%) | 1 ligoje |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Kartais (5–29%) | 1 ligoje |
| ESS2ess-2 spliceosome associated protein | Kartais (5–29%) | 1 ligoje |
| FAAP100FA core complex associated protein 100 | Kartais (5–29%) | 1 ligoje |
| FANCAFA complementation group A | Kartais (5–29%) | 1 ligoje |
| FANCBFA complementation group B | Kartais (5–29%) | 1 ligoje |
| FANCCFA complementation group C | Kartais (5–29%) | 1 ligoje |
| FANCD2FA complementation group D2 | Kartais (5–29%) | 1 ligoje |
| FANCEFA complementation group E | Kartais (5–29%) | 1 ligoje |
| FANCFFA complementation group F | Kartais (5–29%) | 1 ligoje |
| FANCGFA complementation group G | Kartais (5–29%) | 1 ligoje |
| FANCIFA complementation group I | Kartais (5–29%) | 1 ligoje |
| FANCLFA complementation group L | Kartais (5–29%) | 1 ligoje |
| FANCMFA complementation group M | Kartais (5–29%) | 1 ligoje |
| FBXW11F-box and WD repeat domain containing 11 | Kartais (5–29%) | 1 ligoje |
| FGFR2fibroblast growth factor receptor 2 | Kartais (5–29%) | 1 ligoje |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Kartais (5–29%) | 1 ligoje |
| FRAS1Fraser extracellular matrix complex subunit 1 | Kartais (5–29%) | 1 ligoje |
| FREM2FRAS1 related extracellular matrix 2 | Kartais (5–29%) | 1 ligoje |
| GATA6GATA binding protein 6 | Kartais (5–29%) | 2 ligose |
| GJA1gap junction protein alpha 1 | Kartais (5–29%) | 1 ligoje |
| GLI3GLI family zinc finger 3 | Kartais (5–29%) | 3 ligose |
| GLIS3GLIS family zinc finger 3 | Kartais (5–29%) | 1 ligoje |
| GP1BBglycoprotein Ib platelet subunit beta | Kartais (5–29%) | 1 ligoje |
| GRIP1glutamate receptor interacting protein 1 | Kartais (5–29%) | 1 ligoje |
| GTF2E2general transcription factor IIE subunit 2 | Kartais (5–29%) | 1 ligoje |
| GTF2H5general transcription factor IIH subunit 5 | Kartais (5–29%) | 1 ligoje |
| GTF2Igeneral transcription factor IIi | Kartais (5–29%) | 1 ligoje |
| GTF2IRD1GTF2I repeat domain containing 1 | Kartais (5–29%) | 1 ligoje |
| GTF2IRD2GTF2I repeat domain containing 2 | Kartais (5–29%) | 1 ligoje |
| GZF1GDNF inducible zinc finger protein 1 | Kartais (5–29%) | 1 ligoje |
| H19H19 imprinted maternally expressed transcript | Kartais (5–29%) | 1 ligoje |
| HELLShelicase, lymphoid specific | Kartais (5–29%) | 1 ligoje |
| HES7hes family bHLH transcription factor 7 | Kartais (5–29%) | 1 ligoje |
| HIRAhistone cell cycle regulator | Kartais (5–29%) | 1 ligoje |
| HSPG2heparan sulfate proteoglycan 2 | Kartais (5–29%) | 2 ligose |
| IGF2insulin like growth factor 2 | Kartais (5–29%) | 1 ligoje |
| JMJD1Cjumonji domain containing 1C | Kartais (5–29%) | 1 ligoje |
| KDM3Blysine demethylase 3B | Kartais (5–29%) | 1 ligoje |
| LFNGLFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Kartais (5–29%) | 1 ligoje |
| LIMK1LIM domain kinase 1 | Kartais (5–29%) | 1 ligoje |
| LMOD1leiomodin 1 | Kartais (5–29%) | 1 ligoje |
| LONP1lon peptidase 1, mitochondrial | Kartais (5–29%) | 1 ligoje |
| MAD2L2mitotic arrest deficient 2 like 2 | Kartais (5–29%) | 1 ligoje |
| MAN2B1mannosidase alpha class 2B member 1 | Kartais (5–29%) | 1 ligoje |
| MAPRE2microtubule associated protein RP/EB family member 2 | Kartais (5–29%) | 1 ligoje |
| MASP1MBL associated serine protease 1 | Kartais (5–29%) | 1 ligoje |
| MED12mediator complex subunit 12 | Kartais (5–29%) | 3 ligose |
| MED13Lmediator complex subunit 13L | Kartais (5–29%) | 1 ligoje |
| MEGF8multiple EGF like domains 8 | Kartais (5–29%) | 2 ligose |
| MESP2mesoderm posterior bHLH transcription factor 2 | Kartais (5–29%) | 1 ligoje |
| METTL27methyltransferase like 27 | Kartais (5–29%) | 1 ligoje |
| MID1midline 1 | Kartais (5–29%) | 2 ligose |
| MLXIPLMLX interacting protein like | Kartais (5–29%) | 1 ligoje |
| MPLKIPM-phase specific PLK1 interacting protein | Kartais (5–29%) | 1 ligoje |
| MYH11myosin heavy chain 11 | Kartais (5–29%) | 1 ligoje |
| MYLKmyosin light chain kinase | Kartais (5–29%) | 1 ligoje |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Kartais (5–29%) | 1 ligoje |
| NALCNsodium leak channel, non-selective | Kartais (5–29%) | 1 ligoje |
| NCF1neutrophil cytosolic factor 1 | Kartais (5–29%) | 1 ligoje |
| NEU1neuraminidase 1 | Kartais (5–29%) | 2 ligose |
| NFIXnuclear factor I X | Kartais (5–29%) | 1 ligoje |
| NOTCH1notch receptor 1 | Kartais (5–29%) | 1 ligoje |
| NOTCH2notch receptor 2 | Kartais (5–29%) | 2 ligose |
| OCLNoccludin | Kartais (5–29%) | 1 ligoje |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Kartais (5–29%) | 2 ligose |
| PACS1phosphofurin acidic cluster sorting protein 1 | Kartais (5–29%) | 1 ligoje |
| PALB2partner and localizer of BRCA2 | Kartais (5–29%) | 1 ligoje |
| PHGDHphosphoglycerate dehydrogenase | Kartais (5–29%) | 1 ligoje |
| PIGSphosphatidylinositol glycan anchor biosynthesis class S | Kartais (5–29%) | 1 ligoje |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Kartais (5–29%) | 1 ligoje |
| POGZpogo transposable element derived with ZNF domain | Kartais (5–29%) | 1 ligoje |
| PORCNporcupine O-acyltransferase | Kartais (5–29%) | 2 ligose |
| PPP2CAprotein phosphatase 2 catalytic subunit alpha | Kartais (5–29%) | 1 ligoje |
| PRDM5PR/SET domain 5 | Kartais (5–29%) | 1 ligoje |
| RAB23RAB23, member RAS oncogene family | Kartais (5–29%) | 2 ligose |
| RAC1Rac family small GTPase 1 | Kartais (5–29%) | 2 ligose |
| RAD51RAD51 recombinase | Kartais (5–29%) | 1 ligoje |
| RAD51CRAD51 paralog C | Kartais (5–29%) | 1 ligoje |
| RAP1BRAP1B, member of RAS oncogene family | Kartais (5–29%) | 1 ligoje |
| RFC2replication factor C subunit 2 | Kartais (5–29%) | 1 ligoje |
| RFWD3ring finger and WD repeat domain 3 | Kartais (5–29%) | 1 ligoje |
| RFX7regulatory factor X7 | Kartais (5–29%) | 1 ligoje |
| RIPPLY2ripply transcriptional repressor 2 | Kartais (5–29%) | 1 ligoje |
| RNF113Aring finger protein 113A | Kartais (5–29%) | 1 ligoje |
| RNU4-2RNA, U4 small nuclear 2 | Kartais (5–29%) | 1 ligoje |
| RREB1ras responsive element binding protein 1 | Kartais (5–29%) | 1 ligoje |
| SEC24CSEC24 homolog C, COPII component | Kartais (5–29%) | 1 ligoje |
| SEMA3Esemaphorin 3E | Kartais (5–29%) | 1 ligoje |
| SETBP1SET binding protein 1 | Kartais (5–29%) | 1 ligoje |
| SETD5SET domain containing 5 | Kartais (5–29%) | 1 ligoje |
| SH3PXD2BSH3 and PX domains 2B | Kartais (5–29%) | 1 ligoje |
| SLC35C1solute carrier family 35 member C1 | Kartais (5–29%) | 1 ligoje |
| SLX4SLX4 structure-specific endonuclease subunit | Kartais (5–29%) | 1 ligoje |
| SNIP1Smad nuclear interacting protein 1 | Kartais (5–29%) | 1 ligoje |
| SOX6SRY-box transcription factor 6 | Kartais (5–29%) | 1 ligoje |
| SRCAPSnf2 related CREBBP activator protein | Kartais (5–29%) | 1 ligoje |
| STX1Asyntaxin 1A | Kartais (5–29%) | 1 ligoje |
| TARS1threonyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| TBL2transducin beta like 2 | Kartais (5–29%) | 1 ligoje |
| TBX1T-box transcription factor 1 | Kartais (5–29%) | 3 ligose |
| TBX6T-box transcription factor 6 | Kartais (5–29%) | 1 ligoje |
| TENT5Aterminal nucleotidyltransferase 5A | Kartais (5–29%) | 1 ligoje |
| TGFBR2transforming growth factor beta receptor 2 | Kartais (5–29%) | 1 ligoje |
| TMEM270transmembrane protein 270 | Kartais (5–29%) | 1 ligoje |
| TRAF7TNF receptor associated factor 7 | Kartais (5–29%) | 1 ligoje |
| TRPV6transient receptor potential cation channel subfamily V member 6 | Kartais (5–29%) | 1 ligoje |
| TUBBtubulin beta class I | Kartais (5–29%) | 1 ligoje |
| UBE2Tubiquitin conjugating enzyme E2 T | Kartais (5–29%) | 1 ligoje |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Kartais (5–29%) | 1 ligoje |
| UHRF1ubiquitin like with PHD and ring finger domains 1 | Kartais (5–29%) | 1 ligoje |
| VPS37DVPS37D subunit of ESCRT-I | Kartais (5–29%) | 1 ligoje |
| XRCC2X-ray repair cross complementing 2 | Kartais (5–29%) | 1 ligoje |
| ZBTB24zinc finger and BTB domain containing 24 | Kartais (5–29%) | 1 ligoje |
| ZBTB7Azinc finger and BTB domain containing 7A | Kartais (5–29%) | 1 ligoje |
| ADNPactivity dependent neuroprotector homeobox | Retai (1–4 %) | 1 ligoje |
| APC2APC regulator of Wnt signaling pathway 2 | Retai (1–4 %) | 1 ligoje |
| ARXaristaless related homeobox | Retai (1–4 %) | 1 ligoje |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Retai (1–4 %) | 1 ligoje |
| CASKcalcium/calmodulin dependent serine protein kinase | Retai (1–4 %) | 1 ligoje |
| CDH11cadherin 11 | Retai (1–4 %) | 1 ligoje |
| CDKL5cyclin dependent kinase like 5 | Retai (1–4 %) | 1 ligoje |
| CHD3chromodomain helicase DNA binding protein 3 | Retai (1–4 %) | 1 ligoje |
| DMXL2Dmx like 2 | Retai (1–4 %) | 1 ligoje |
| EHMT1euchromatic histone lysine methyltransferase 1 | Retai (1–4 %) | 2 ligose |
| GNAO1G protein subunit alpha o1 | Retai (1–4 %) | 1 ligoje |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Retai (1–4 %) | 1 ligoje |
| GRM7glutamate metabotropic receptor 7 | Retai (1–4 %) | 1 ligoje |
| IRF6interferon regulatory factor 6 | Retai (1–4 %) | 1 ligoje |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Retai (1–4 %) | 1 ligoje |
| KMT2Clysine methyltransferase 2C | Retai (1–4 %) | 1 ligoje |
| LGI1leucine rich glioma inactivated 1 | Retai (1–4 %) | 1 ligoje |
| MSX1msh homeobox 1 | Retai (1–4 %) | 1 ligoje |
| NECTIN1nectin cell adhesion molecule 1 | Retai (1–4 %) | 1 ligoje |
| NEUROD2neuronal differentiation 2 | Retai (1–4 %) | 1 ligoje |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Retai (1–4 %) | 1 ligoje |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Retai (1–4 %) | 1 ligoje |
| PNKPpolynucleotide kinase 3'-phosphatase | Retai (1–4 %) | 1 ligoje |
| RHOBTB2Rho related BTB domain containing 2 | Retai (1–4 %) | 1 ligoje |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Retai (1–4 %) | 1 ligoje |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Retai (1–4 %) | 1 ligoje |
| SIK1salt inducible kinase 1 | Retai (1–4 %) | 1 ligoje |
| SLC25A22solute carrier family 25 member 22 | Retai (1–4 %) | 1 ligoje |
| SLC32A1solute carrier family 32 member 1 | Retai (1–4 %) | 1 ligoje |
| TAF11TATA-box binding protein associated factor 11 | Retai (1–4 %) | 1 ligoje |
| TRIM8tripartite motif containing 8 | Retai (1–4 %) | 1 ligoje |
| TRRAPtransformation/transcription domain associated protein | Retai (1–4 %) | 1 ligoje |
| AGPAT21-acylglycerol-3-phosphate O-acyltransferase 2 | Neužfiksuota | 1 ligoje |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Neužfiksuota | 1 ligoje |
| ARID1BAT-rich interaction domain 1B | Neužfiksuota | 1 ligoje |
| ATRXATRX chromatin remodeler | Neužfiksuota | 1 ligoje |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Neužfiksuota | 1 ligoje |
| CCBE1collagen and calcium binding EGF domains 1 | Neužfiksuota | 1 ligoje |
| CHST14carbohydrate sulfotransferase 14 | Neužfiksuota | 1 ligoje |
| COL2A1collagen type II alpha 1 chain | Neužfiksuota | 1 ligoje |
| EFNB1ephrin B1 | Neužfiksuota | 1 ligoje |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Neužfiksuota | 1 ligoje |
| FBLN5fibulin 5 | Neužfiksuota | 1 ligoje |
| GMNNgeminin DNA replication inhibitor | Neužfiksuota | 1 ligoje |
| GPC6glypican 6 | Neužfiksuota | 1 ligoje |
| IDSiduronate 2-sulfatase | Neužfiksuota | 1 ligoje |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Neužfiksuota | 1 ligoje |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Neužfiksuota | 1 ligoje |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Neužfiksuota | 1 ligoje |
| SALL1spalt like transcription factor 1 | Neužfiksuota | 1 ligoje |
| SLC2A10solute carrier family 2 member 10 | Neužfiksuota | 1 ligoje |
| TGDSTDP-glucose 4,6-dehydratase | Neužfiksuota | 1 ligoje |
| TMEM70transmembrane protein 70 | Neužfiksuota | 1 ligoje |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
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Iš kur tai žinoma
- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
- Duomenų leidimas 2026.10.19-9814e911.
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