Atlas이런 분들을 위해과학적 근거제품연구 성과
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형질
Aneurysm
임상 명칭: Vascular dilatation
An abnormal increase in the diameter of an artery or vein, either as a diffuse dilatation or as a localized, sac-like outpouching of the vessel wall (aneurysm).
요약
- 다른 명칭
- Aneurysmal disease, Aneurysms, Wider than typical opening or gap, Aneurysmal dilatation
Atlas이런 분들을 위해과학적 근거제품연구 성과
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이 페이지의 데이터
페이지 주소 끝에 .json을 붙이거나 application/json을 요청하면 JSON 형식으로 읽을 수 있습니다.
library(jsonlite)
url <- "https://dantelabs.com/traits/vascular-dilatation.json"
page <- fromJSON(url)
page$trait$nameAneurysmHP:0002617
Atlas이런 분들을 위해과학적 근거제품연구 성과
로그인질문하기유전체를 시퀀싱하세요↗
52 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.
- Loeys-Dietz SyndromeReads 6 of these genesSMAD2SMAD3TGFB2TGFB3TGFBR1TGFBR2About this report →
- Polycystic Liver Disease (1 and 2)Reads 4 of these genesALG8LRP5PRKCSHSEC63About this report →
- Marfan Like SyndromesReads 6 of these genesSMAD2SMAD3TGFB2TGFB3TGFBR1TGFBR2About this report →
- Cutis LaxaReads 6 of these genesATP7ASLC2A10EFEMP2FBLN5LTBP1LTBP4About this report →
Show 48 more reports
- Aortic AneurysmReads 4 of these genesTGFB2TGFBR1TGFBR2ACTA2About this report →
- Hereditary Vascular MalformationsReads 2 of these genesEPHB4RASA1About this report →
- Ferguson-Smith Disease (Multiple Self-Healing Squamous Epithelioma)Reads 1 of these genesTGFBR1About this report →
- Johanson-Blizzard SyndromeReads 1 of these genesUBR1About this report →
- Microcephalic Osteodysplastic Primordial Dwarfism Type IIReads 1 of these genesPCNTAbout this report →
- OFD1-Related CiliopathyReads 1 of these genesOFD1About this report →
- PBX1-Related Kidney and Urinary Tract AnomaliesReads 1 of these genesPBX1About this report →
- Cerebral Arteriopathy with Subcortical Infarcts and LeukoencephalopathyReads 1 of these genesNOTCH3About this report →
- STAT1 and STAT3 Gain-of-Function DiseaseReads 1 of these genesSTAT3About this report →
- Noonan SyndromeReads 3 of these genesBRAFPTPN11RAF1About this report →
- Meckel SyndromeReads 2 of these genesMKS1TMEM67About this report →
- Disorder of Copper MetabolismReads 1 of these genesATP7AAbout this report →
- Carney Complex & Hereditary Adrenal Cushing SyndromeReads 1 of these genesPRKAR1AAbout this report →
- Moyamoya DiseaseReads 1 of these genesACTA2About this report →
- Pseudohypoparathyroidism & GNAS-Inactivation DisordersReads 1 of these genesPRKAR1AAbout this report →
- Joubert Syndrome And Related DisordersReads 3 of these genesOFD1MKS1TMEM67About this report →
- Nephronophthisis and Senior-Løken SyndromeReads 2 of these genesTMEM67WDR19About this report →
- Sclerosing Bone Dysplasias (High Bone Mass)Reads 1 of these genesLRP5About this report →
- Ehlers-Danlos SyndromeReads 2 of these genesPLOD1COL3A1About this report →
- Hypertrophic CardiomyopathyReads 3 of these genesBRAFPTPN11RAF1About this report →
- Ellis-van Creveld Syndrome and Cranioectodermal DysplasiaReads 1 of these genesWDR19About this report →
- Hyper-IgE SyndromeReads 1 of these genesSTAT3About this report →
- Waardenburg SyndromeReads 1 of these genesSOX10About this report →
- GlomerulosclerosisReads 1 of these genesCRB2About this report →
- Focal Segmental GlomerulosclerosisReads 1 of these genesCRB2About this report →
- Mendelian Susceptibility to Mycobacterial Disease (MSMD)Reads 1 of these genesIL12BAbout this report →
- Polycystic Kidney DiseaseReads 1 of these genesALG8About this report →
- LipodystrophyReads 1 of these genesCAVIN1About this report →
- OsteopetrosisReads 1 of these genesLRP5About this report →
- Zellweger Spectrum & Peroxisome Biogenesis DisordersReads 1 of these genesPEX12About this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 2 of these genesMKS1TMEM67About this report →
- Primary Lymphoedema & Lymphatic MalformationsReads 1 of these genesEPHB4About this report →
- Charcot-Marie-Tooth DiseaseReads 2 of these genesATP7AFBLN5About this report →
- Neonatal Diabetes MellitusReads 1 of these genesMNX1About this report →
- Autoimmune DiseaseReads 1 of these genesSTAT3About this report →
- Bardet-Biedl and Alström SyndromesReads 1 of these genesMKS1About this report →
- Syndromic CraniosynostosisReads 1 of these genesWDR19About this report →
- Inherited Neurodegenerative DisordersReads 4 of these genesATP7AMKS1PEX12TMEM67About this report →
- Rare Hereditary Peripheral NeuropathiesReads 3 of these genesATP7AFBLN5PEX12About this report →
- VitreoretinopathyReads 1 of these genesLRP5About this report →
- Spinal Muscular AtrophyReads 1 of these genesATP7AAbout this report →
- Diabetes MellitusReads 1 of these genesMNX1About this report →
- Osteogenesis ImperfectaReads 1 of these genesLRP5About this report →
- Dilated CardiomyopathyReads 1 of these genesRAF1About this report →
- Other Inherited LeukodystrophiesReads 1 of these genesPEX12About this report →
- Retinitis PigmentosaReads 1 of these genesOFD1About this report →
- Congenital Disorders of GlycosylationReads 1 of these genesALG8About this report →
- Other Inborn Errors of ImmunityReads 1 of these genesSTAT3About this report →
연관 유전자 46개: Aneurysm
이 유전자들의 변화는 Aneurysm 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 |
|---|---|---|
| NOTCH3notch receptor 3 | 항상 | 질환 1개에서 나타남 |
| ATP7AATPase copper transporting alpha | 매우 자주 (80–99%) | 질환 2개에서 나타남 |
| HLA-Bmajor histocompatibility complex, class I, B | 매우 자주 (80–99%) | 질환 1개에서 나타남 |
| IL12Binterleukin 12B | 매우 자주 (80–99%) | 질환 1개에서 나타남 |
| IPO8importin 8 | 매우 자주 (80–99%) | 질환 1개에서 나타남 |
| MLXMAX dimerization protein MLX | 매우 자주 (80–99%) | 질환 1개에서 나타남 |
| SLC2A10solute carrier family 2 member 10 | 매우 자주 (80–99%) | 질환 1개에서 나타남 |
| SMAD2SMAD family member 2 | 매우 자주 (80–99%) | 질환 1개에서 나타남 |
| SMAD3SMAD family member 3 | 매우 자주 (80–99%) | 질환 2개에서 나타남 |
| TGFB2transforming growth factor beta 2 | 매우 자주 (80–99%) | 질환 1개에서 나타남 |
| TGFB3transforming growth factor beta 3 | 매우 자주 (80–99%) | 질환 1개에서 나타남 |
| TGFBR1transforming growth factor beta receptor 1 | 매우 자주 (80–99%) | 질환 1개에서 나타남 |
| TGFBR2transforming growth factor beta receptor 2 | 매우 자주 (80–99%) | 질환 1개에서 나타남 |
| EPHB4EPH receptor B4 | 자주 (30–79%) | 질환 1개에서 나타남 |
| RASA1RAS p21 protein activator 1 | 자주 (30–79%) | 질환 1개에서 나타남 |
| ALG8ALG8 alpha-1,3-glucosyltransferase | 가끔 (5–29%) | 질환 1개에서 나타남 |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | 가끔 (5–29%) | 질환 1개에서 나타남 |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| FBLN5fibulin 5 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| LRP5LDL receptor related protein 5 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| LTBP1latent transforming growth factor beta binding protein 1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| OFD1OFD1 centriole and centriolar satellite protein | 가끔 (5–29%) | 질환 2개에서 나타남 |
| PCNTpericentrin | 가끔 (5–29%) | 질환 1개에서 나타남 |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| PRKCSHPRKCSH beta subunit of glucosidase II | 가끔 (5–29%) | 질환 1개에서 나타남 |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | 가끔 (5–29%) | 질환 1개에서 나타남 |
| SEC63SEC63 protein translocation regulator | 가끔 (5–29%) | 질환 1개에서 나타남 |
| STAT3signal transducer and activator of transcription 3 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | 드물게 (1–4%) | 질환 1개에서 나타남 |
| ACTA2actin alpha 2, smooth muscle | 기록되지 않음 | 질환 1개에서 나타남 |
| CAVIN1caveolae associated protein 1 | 기록되지 않음 | 질환 1개에서 나타남 |
| COL3A1collagen type III alpha 1 chain | 기록되지 않음 | 질환 1개에서 나타남 |
| CRB2crumbs cell polarity complex component 2 | 기록되지 않음 | 질환 1개에서 나타남 |
| LTBP4latent transforming growth factor beta binding protein 4 | 기록되지 않음 | 질환 1개에서 나타남 |
| MKS1MKS transition zone complex subunit 1 | 기록되지 않음 | 질환 1개에서 나타남 |
| MNX1motor neuron and pancreas homeobox 1 | 기록되지 않음 | 질환 1개에서 나타남 |
| NPPAnatriuretic peptide A | 기록되지 않음 | 질환 1개에서 나타남 |
| PAM16presequence translocase associated motor 16 | 기록되지 않음 | 질환 1개에서 나타남 |
| PBX1PBX homeobox 1 | 기록되지 않음 | 질환 1개에서 나타남 |
유전자 6개 더 보기
| 유전자 | 나타나는 빈도 | 질환 |
|---|---|---|
| PEX12peroxisomal biogenesis factor 12 | 기록되지 않음 | 질환 1개에서 나타남 |
| SALL4spalt like transcription factor 4 | 기록되지 않음 | 질환 1개에서 나타남 |
| SOX10SRY-box transcription factor 10 | 기록되지 않음 | 질환 1개에서 나타남 |
| TMEM67transmembrane protein 67 | 기록되지 않음 | 질환 1개에서 나타남 |
| UBR1ubiquitin protein ligase E3 component n-recognin 1 | 기록되지 않음 | 질환 1개에서 나타남 |
| WDR19WD repeat domain 19 | 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.
하위 형질
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.
Atlas이런 분들을 위해과학적 근거제품연구 성과
로그인질문하기유전체를 시퀀싱하세요↗
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