Atlas우리가 돕는 분들과학적 근거제품연구 성과
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형질
Omphalocele
A midline anterior incomplete closure of the abdominal wall in which there is herniation of the abdominal viscera into the base of the abdominal cord.
요약
- 다른 명칭
- Exomphalos, Omphalocoele
Atlas우리가 돕는 분들과학적 근거제품연구 성과
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페이지 주소 끝에 .json을 붙이거나 application/json을 요청하면 JSON 형식으로 읽을 수 있습니다.
library(jsonlite)
url <- "https://dantelabs.com/traits/omphalocele.json"
page <- fromJSON(url)
page$trait$nameOmphaloceleHP:0001539
Atlas우리가 돕는 분들과학적 근거제품연구 성과
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64 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.
- Fraser SyndromeReads 3 of these genesFRAS1FREM2GRIP1About this report →
- Hereditary Visceral Myopathy, CIPO & MMIHSReads 4 of these genesFLNAACTG2MYH11MYLKAbout this report →
- Alveolar Capillary Dysplasia with Misalignment of Pulmonary VeinsReads 1 of these genesFOXF1About this report →
- Androgen Insensitivity SyndromeReads 1 of these genesARAbout this report →
Show 60 more reports
- Asphyxiating Thoracic Dystrophy 2 (IFT80)Reads 1 of these genesIFT80About this report →
- Auriculocondylar Syndrome 2 (PLCB4)Reads 1 of these genesPLCB4About this report →
- CHARGE SyndromeReads 1 of these genesCHD7About this report →
- Focal Dermal Hypoplasia (Goltz Syndrome)Reads 1 of these genesPORCNAbout this report →
- Greig Cephalopolysyndactyly SyndromeReads 1 of these genesGLI3About this report →
- Hereditary HypospadiasReads 1 of these genesMAMLD1About this report →
- IFAP Syndrome (MBTPS2)Reads 1 of these genesMBTPS2About this report →
- Jeune Asphyxiating Thoracic Dystrophy (DYNC2H1)Reads 1 of these genesDYNC2H1About this report →
- Marshall-Smith SyndromeReads 1 of these genesNFIXAbout 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 →
- Simpson-Golabi-Behmel SyndromeReads 1 of these genesGPC3About this report →
- Spinal and Bulbar Muscular Atrophy (Kennedy Disease)Reads 1 of these genesARAbout this report →
- TMEM94-Related Intellectual Disability with Heart DefectsReads 1 of these genesTMEM94About this report →
- X-Linked Opitz G/BBB SyndromeReads 1 of these genesMID1About this report →
- Congenital Intestinal Atresia & Short BowelReads 1 of these genesTTC7AAbout this report →
- FLNB-Related Skeletal Dysplasia (Larsen Spectrum)Reads 1 of these genesFLNBAbout this report →
- Nevoid Basal Cell Carcinoma (Gorlin) SyndromeReads 1 of these genesPTCH1About this report →
- Otospondylomegaepiphyseal Dysplasia (OSMED)Reads 1 of these genesCOL11A2About this report →
- Imprinting Disorders: Prader-Willi, Silver-Russell and Beckwith-WiedemannReads 2 of these genesCDKN1CIGF2About this report →
- Syndromic CraniosynostosisReads 3 of these genesFGFR1WDR35RAB23About this report →
- Monogenic Precocious PubertyReads 1 of these genesDLK1About this report →
- Van der Woude and Popliteal Pterygium Syndromes (IRF6)Reads 1 of these genesRIPK4About this report →
- Aortic AneurysmReads 2 of these genesMYH11MYLKAbout this report →
- Complex Neurodevelopmental Disorder (TRRAP, MYH10, RERE, SOX11)Reads 1 of these genesTRRAPAbout this report →
- Familial Atrial FibrillationReads 1 of these genesKCNQ1About this report →
- Overgrowth Syndromes (Sotos, Weaver, Tatton-Brown-Rahman, Malan)Reads 1 of these genesNFIXAbout this report →
- Short Qt SyndromeReads 1 of these genesKCNQ1About this report →
- Joubert Syndrome And Related DisordersReads 3 of these genesCEP120TMEM216MKS1About this report →
- Congenital HypothyroidismReads 2 of these genesTSHBTHRAAbout this report →
- Periventricular Nodular HeterotopiaReads 1 of these genesFLNAAbout this report →
- Non-Acquired Combined Pituitary Hormone DeficiencyReads 2 of these genesGLI3PTCH1About this report →
- Ellis-van Creveld Syndrome and Cranioectodermal DysplasiaReads 1 of these genesWDR35About this report →
- Thyroid CancerReads 2 of these genesTSHBTHRAAbout this report →
- Long QT SyndromeReads 1 of these genesKCNQ1About this report →
- Meckel SyndromeReads 1 of these genesMKS1About this report →
- Heterotaxy & Laterality DefectsReads 1 of these genesZIC3About this report →
- Polycystic Kidney DiseaseReads 1 of these genesALG9About this report →
- Hypogonadotropic HypogonadismReads 2 of these genesFGFR1CHD7About this report →
- Inherited Congenital Heart DefectsReads 1 of these genesFLNAAbout this report →
- OsteopetrosisReads 1 of these genesAMER1About this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 2 of these genesTMEM216MKS1About this report →
- Hypertrophic CardiomyopathyReads 2 of these genesCDKN1CIGF2About this report →
- Ectodermal DysplasiasReads 1 of these genesTP63About this report →
- 46,XY Differences of Sex Development and Gonadal DysgenesisReads 1 of these genesARAbout this report →
- GPI Anchor Biosynthesis DefectsReads 1 of these genesPIGNAbout this report →
- Homocystinuria & Cobalamin DisordersReads 1 of these genesMTHFRAbout this report →
- Bardet-Biedl and Alström SyndromesReads 1 of these genesMKS1About this report →
- Lissencephaly Spectrum DisordersReads 1 of these genesPAFAH1B1About this report →
- Hearing Loss and DeafnessReads 2 of these genesCOL11A1COL11A2About this report →
- Congenital Disorders of GlycosylationReads 2 of these genesALG9PIGNAbout this report →
- VitreoretinopathyReads 1 of these genesCOL11A1About this report →
- Osteogenesis ImperfectaReads 1 of these genesMBTPS2About this report →
- Hereditary Palmoplantar Keratodermas and Pachyonychia CongenitaReads 1 of these genesMBTPS2About this report →
- Inherited Neurodegenerative DisordersReads 3 of these genesARTMEM216MKS1About this report →
- Epilepsy (Full Panel)Reads 2 of these genesFLNAGAD1About this report →
- Female InfertilityReads 1 of these genesTP63About this report →
- Rare Hereditary Peripheral NeuropathiesReads 1 of these genesMTHFRAbout this report →
- Intellectual DisabilityReads 1 of these genesAHDC1About this report →
연관 유전자 83개: Omphalocele
이 유전자들의 변화는 Omphalocele 증상이 나타나는 희귀 질환을 일으킵니다. 이 형질을 가진 대부분의 사람에게는 이러한 질환이 없으며, 이 목록에 있는 유전자가 누구의 개인 유전체에 대해서도 말해 주는 것은 없습니다.
| 유전자 | 나타나는 빈도 | 질환 |
|---|---|---|
| CHUKcomponent of inhibitor of nuclear factor kappa B kinase complex | 항상 | 질환 1개에서 나타남 |
| GLI3GLI family zinc finger 3 | 항상 | 질환 1개에서 나타남 |
| RIPK4receptor interacting serine/threonine kinase 4 | 항상 | 질환 1개에서 나타남 |
| ALG9ALG9 alpha-1,2-mannosyltransferase | 자주 (30–79%) | 질환 2개에서 나타남 |
| CEP120centrosomal protein 120 | 자주 (30–79%) | 질환 1개에서 나타남 |
| FLNAfilamin A | 자주 (30–79%) | 질환 5개에서 나타남 |
| FLNBfilamin B | 자주 (30–79%) | 질환 1개에서 나타남 |
| FREM1FRAS1 related extracellular matrix 1 | 자주 (30–79%) | 질환 2개에서 나타남 |
| GPC3glypican 3 | 자주 (30–79%) | 질환 1개에서 나타남 |
| GPC4glypican 4 | 자주 (30–79%) | 질환 1개에서 나타남 |
| LRP2LDL receptor related protein 2 | 자주 (30–79%) | 질환 2개에서 나타남 |
| NXNnucleoredoxin | 자주 (30–79%) | 질환 1개에서 나타남 |
| PLCB4phospholipase C beta 4 | 자주 (30–79%) | 질환 1개에서 나타남 |
| PPP2R3Cprotein phosphatase 2 regulatory subunit B''gamma | 자주 (30–79%) | 질환 1개에서 나타남 |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | 자주 (30–79%) | 질환 2개에서 나타남 |
| TSHBthyroid stimulating hormone subunit beta | 자주 (30–79%) | 질환 1개에서 나타남 |
| TWIST2twist family bHLH transcription factor 2 | 자주 (30–79%) | 질환 2개에서 나타남 |
| ACTG2actin gamma 2, smooth muscle | 가끔 (5–29%) | 질환 1개에서 나타남 |
| AHDC1AT-hook DNA binding motif containing 1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| ARandrogen receptor | 가끔 (5–29%) | 질환 1개에서 나타남 |
| BHLHA9basic helix-loop-helix family member a9 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| CD96CD96 molecule | 가끔 (5–29%) | 질환 2개에서 나타남 |
| COL11A1collagen type XI alpha 1 chain | 가끔 (5–29%) | 질환 2개에서 나타남 |
| COL11A2collagen type XI alpha 2 chain | 가끔 (5–29%) | 질환 1개에서 나타남 |
| DACT1dishevelled binding antagonist of beta catenin 1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| DLK1delta like non-canonical Notch ligand 1 | 가끔 (5–29%) | 질환 3개에서 나타남 |
| DVL1dishevelled segment polarity protein 1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| DVL3dishevelled segment polarity protein 3 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| DYNC2I1dynein 2 intermediate chain 1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| DYNC2I2dynein 2 intermediate chain 2 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| FGFR1fibroblast growth factor receptor 1 | 가끔 (5–29%) | 질환 2개에서 나타남 |
| FOXF1forkhead box F1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| FRAS1Fraser extracellular matrix complex subunit 1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| FREM2FRAS1 related extracellular matrix 2 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| GAD1glutamate decarboxylase 1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| GRIP1glutamate receptor interacting protein 1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| HIC1HIC ZBTB transcriptional repressor 1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| HOXD13homeobox D13 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| IFT80intraflagellar transport 80 | 가끔 (5–29%) | 질환 1개에서 나타남 |
유전자 43개 더 보기
| 유전자 | 나타나는 빈도 | 질환 |
|---|---|---|
| ISL1ISL LIM homeobox 1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| LMOD1leiomodin 1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| LONP1lon peptidase 1, mitochondrial | 가끔 (5–29%) | 질환 1개에서 나타남 |
| MAMLD1mastermind like domain containing 1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| MBTPS2membrane bound transcription factor peptidase, site 2 | 가끔 (5–29%) | 질환 2개에서 나타남 |
| MEG3maternally expressed 3 | 가끔 (5–29%) | 질환 3개에서 나타남 |
| MID1midline 1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| MMP14matrix metallopeptidase 14 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| MMP2matrix metallopeptidase 2 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| MTHFRmethylenetetrahydrofolate reductase | 가끔 (5–29%) | 질환 1개에서 나타남 |
| MYH11myosin heavy chain 11 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| MYLKmyosin light chain kinase | 가끔 (5–29%) | 질환 1개에서 나타남 |
| NEK9NIMA related kinase 9 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | 가끔 (5–29%) | 질환 1개에서 나타남 |
| PORCNporcupine O-acyltransferase | 가끔 (5–29%) | 질환 2개에서 나타남 |
| PPP1R12Aprotein phosphatase 1 regulatory subunit 12A | 가끔 (5–29%) | 질환 1개에서 나타남 |
| PTCH1patched 1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| RTL1retrotransposon Gag like 1 | 가끔 (5–29%) | 질환 3개에서 나타남 |
| TBC1D32TBC1 domain family member 32 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| TMEM216transmembrane protein 216 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| TMEM94transmembrane protein 94 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| TP63tumor protein p63 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| TTC7Atetratricopeptide repeat domain 7A | 가끔 (5–29%) | 질환 2개에서 나타남 |
| VANGL2VANGL planar cell polarity protein 2 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| WDR35WD repeat domain 35 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| YWHAEtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon | 가끔 (5–29%) | 질환 1개에서 나타남 |
| ZIC3Zic family zinc finger 3 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| AMER1APC membrane recruitment protein 1 | 드물게 (1–4%) | 질환 1개에서 나타남 |
| CHD7chromodomain helicase DNA binding protein 7 | 드물게 (1–4%) | 질환 2개에서 나타남 |
| PI4KAphosphatidylinositol 4-kinase alpha | 드물게 (1–4%) | 질환 1개에서 나타남 |
| SEMA3Esemaphorin 3E | 드물게 (1–4%) | 질환 1개에서 나타남 |
| TRRAPtransformation/transcription domain associated protein | 드물게 (1–4%) | 질환 1개에서 나타남 |
| CDKN1Ccyclin dependent kinase inhibitor 1C | 기록되지 않음 | 질환 1개에서 나타남 |
| HYLS1HYLS1 centriolar and ciliogenesis associated | 기록되지 않음 | 질환 1개에서 나타남 |
| IFT81intraflagellar transport 81 | 기록되지 않음 | 질환 1개에서 나타남 |
| IGF2insulin like growth factor 2 | 기록되지 않음 | 질환 1개에서 나타남 |
| KCNQ1potassium voltage-gated channel subfamily Q member 1 | 기록되지 않음 | 질환 1개에서 나타남 |
| KCNQ1OT1KCNQ1 opposite strand/antisense transcript 1 | 기록되지 않음 | 질환 1개에서 나타남 |
| MKS1MKS transition zone complex subunit 1 | 기록되지 않음 | 질환 1개에서 나타남 |
| NFIXnuclear factor I X | 기록되지 않음 | 질환 1개에서 나타남 |
| RAB23RAB23, member RAS oncogene family | 기록되지 않음 | 질환 1개에서 나타남 |
| THRAthyroid hormone receptor alpha | 기록되지 않음 | 질환 1개에서 나타남 |
Human Phenotype Ontology가 기록한, 해당 유전자와 관련된 질환을 가진 사람들 가운데 이 특징이 나타나는 빈도입니다. 이 페이지는 특징과 그 바탕이 되는 연구를 설명하며, 진단이 아닙니다. 증상에 대해서는 의사나 유전 상담사에게 문의하시기 바랍니다.
상위 형질
출처
- Human Phenotype Ontology, 버전 2026-09-01: 특징, 명칭, 정의 및 이와 연결된 유전자입니다. 자세한 내용은 hpo.jax.org에서 확인하실 수 있습니다.
- 데이터 버전 2026.10.19-9814e911.
Atlas우리가 돕는 분들과학적 근거제품연구 성과
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