MCID: THR027
MIFTS: 34

Thoracic Aortic Aneurysms and Aortic Dissections malady

Genetic diseases (common) category

Aliases & Classifications for Thoracic Aortic Aneurysms and Aortic Dissections

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Aliases & Descriptions for Thoracic Aortic Aneurysms and Aortic Dissections:

Name: Thoracic Aortic Aneurysms and Aortic Dissections 21 22 24
Thoracic Aortic Aneurysms and Dissection 22
 
Thoracic Aortic Dissection 22
Taad 22


Classifications:



Summaries for Thoracic Aortic Aneurysms and Aortic Dissections

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MalaCards based summary: Thoracic Aortic Aneurysms and Aortic Dissections, also known as thoracic aortic aneurysms and dissection, is related to aortic disease and thoracic aortic aneurysm. An important gene associated with Thoracic Aortic Aneurysms and Aortic Dissections is FBN1 (Fibrillin 1), and among its related pathways are IL-4 Signaling and its Primary Biological Effects in Different Immune Cell Types and ALK1 signaling events. Related mouse phenotypes are digestive/alimentary and respiratory system.

GeneReviews summary for taa

Related Diseases for Thoracic Aortic Aneurysms and Aortic Dissections

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Diseases in the Thoracic Aortic Aneurysms and Aortic Dissections family:

Prkg1-Related Thoracic Aortic Aneurysms and Aortic Dissections Acta2-Related Thoracic Aortic Aneurysms and Aortic Dissections
Fbn1-Related Thoracic Aortic Aneurysms and Aortic Dissections Mfap5-Related Thoracic Aortic Aneurysms and Aortic Dissections
Myh11-Related Thoracic Aortic Aneurysms and Aortic Dissections Mylk-Related Thoracic Aortic Aneurysms and Aortic Dissections
Smad3-Related Thoracic Aortic Aneurysms and Aortic Dissections Tgfbr1-Related Thoracic Aortic Aneurysms and Aortic Dissections
Tgfbr2-Related Thoracic Aortic Aneurysms and Aortic Dissections

Diseases related to Thoracic Aortic Aneurysms and Aortic Dissections via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 53)
idRelated DiseaseScoreTop Affiliating Genes
1aortic disease28.6ACTA2, COL3A1, FBN1, MYH11, MYLK, SMAD3
2thoracic aortic aneurysm10.8
3aortic aneurysm10.8
4aneurysm10.8
5prkg1-related thoracic aortic aneurysms and aortic dissections10.7
6acta2-related thoracic aortic aneurysms and aortic dissections10.7
7fbn1-related thoracic aortic aneurysms and aortic dissections10.7
8mfap5-related thoracic aortic aneurysms and aortic dissections10.7
9myh11-related thoracic aortic aneurysms and aortic dissections10.7
10mylk-related thoracic aortic aneurysms and aortic dissections10.7
11smad3-related thoracic aortic aneurysms and aortic dissections10.7
12tgfbr1-related thoracic aortic aneurysms and aortic dissections10.7
13tgfbr2-related thoracic aortic aneurysms and aortic dissections10.7
14marfan syndrome/loeys-dietz syndrome/familial thoracic aortic aneurysms and dissections10.6
15pneumonia10.4
16familial thoracic aortic aneurysm and dissection10.4
17loeys-dietz syndrome 210.3
18aortic aneurysm, familial thoracic 110.3
19patent ductus arteriosus10.3
20abdominal aortic aneurysm10.3
21mitral valve disease10.3
22aortic arch interruption10.2
23spondylosis10.2
24nutmeg liver10.2
25bowman's membrane folds or rupture10.2
26cocaine abuse10.2
27cerebrovascular disease10.2
28mediastinitis10.2
29vascular disease10.2
30extragonadal germinoma10.1COL3A1, FBN1
31histrionic personality disorder10.1MYH11, TGFBR2
32childhood brain meningioma10.1FBN1, TGFBR2
33marfan syndrome10.0
34aortic aneurysm, familial thoracic 410.0
35loeys-dietz syndrome10.0
36chronic ulcer of skin10.0FBN1, SMAD3
37logopenic progressive aphasia10.0TGFBR1, TGFBR2
38squamous blepharitis10.0MYH11, TGFBR2
39loeys-dietz syndrome type 2a10.0TGFBR1, TGFBR2
40skin fragility-woolly hair-palmoplantar keratoderma syndrome10.0TGFBR1, TGFBR2
41elastoderma10.0TGFBR1, TGFBR2
42ovarian mucinous malignant adenofibroma9.9TGFBR1, TGFBR2
43choroid necrotic melanoma9.9TGFBR1, TGFBR2
44premature chromatid separation trait9.8SMAD3, TGFBR1, TGFBR2
45transient neonatal neutropenia9.8TGFBR1, TGFBR2
46ectopia lentis, familial9.7ACTA2, FBN1, TGFBR1, TGFBR2
47familial treacher collins syndrome9.5FBN1, MYH11, SMAD3, TGFBR1, TGFBR2
48antley-bixler syndrome9.5ACTA2, FBN1, SMAD3, TGFBR1, TGFBR2
49arthropathy9.4ACTA2, FBN1, MYLK, SMAD3, TGFBR2
50breast mucoepidermoid carcinoma9.4ACTA2, FBN1, MYH11, SMAD3, TGFBR1, TGFBR2

Graphical network of the top 20 diseases related to Thoracic Aortic Aneurysms and Aortic Dissections:



Diseases related to thoracic aortic aneurysms and aortic dissections

Symptoms for Thoracic Aortic Aneurysms and Aortic Dissections

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Drugs & Therapeutics for Thoracic Aortic Aneurysms and Aortic Dissections

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Drugs for Thoracic Aortic Aneurysms and Aortic Dissections (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
AcetazolamideapprovedPhase 46159-66-51986
Synonyms:
1424-27-7 (mono-hydrochloride salt)
1yda
1ydb
1ydd
1zsb
2-acetylamino-1,3,4-Thiadiazole-5-sulfonamide
2h4n
3czv
4-Diamox
5-ACETAMIDO-1,3,4-thiadiazole-2-sulfonamide
5-acetylamino-1,3,4-Thiadiazole-2-sulfonamide
5661-25-6
59-66-5
8017-69-4
A 6011
A6011_SIAL
A6011_SIGMA
AB00051906
AC-12779
AC1L1CO5
AI3-52458
AKOS000715163
Acetadiazol
Acetamidothiadiazolesulfonamide
Acetamox
Acetazolam
Acetazolamid
Acetazolamida
Acetazolamida [INN-Spanish]
Acetazolamide
Acetazolamide (AAZ)
Acetazolamide (JP15/USP/INN)
Acetazolamide Apotex Brand
Acetazolamide Chiesi Brand
Acetazolamide Dioptic Brand
Acetazolamide Grin Brand
Acetazolamide ICN Brand
Acetazolamide Jumer Brand
Acetazolamide Llorens Brand
Acetazolamide Medphano Brand
Acetazolamide Novopharm Brand
Acetazolamide Orion Brand
Acetazolamide Sodium
Acetazolamide Sodium, (Sterile)
Acetazolamide Wassermann Brand
Acetazolamide [INN:BAN:JAN]
Acetazolamide, Monosodium Salt
Acetazolamidum
Acetazolamidum [INN-Latin]
Acetazolamine
Acetazoleamide
Acetozalamide
Acétazolamide
Ak Zol
Ak-Zol
AkZol
Apo Acetazolamide
Apo-Acetazolamide
ApoAcetazolamide
Apotex Brand of Acetazolamide
Atenezol
Avva
BAS 01585728
BIDD:GT0643
BPBio1_000007
BSPBio_000005
BSPBio_001788
C06805
C4H6N4O3S2
CAS-59-66-5
CCRIS 5811
CHEBI:27690
CHEMBL20
CID1986
CPD0-1626
CPD000058394
Carbonic Anhydrase Inhibitor 6063
Carbonic Anhydrase Inhibitor No. 6063
Carbonic anhydrase inhibitor 6063
Chiesi Brand of Acetazolamide
Ciba Vision Brand of Acetazolamide
Cidamex
D000086
D00218
DB00819
Dazamide
Defiltran
Dehydratin
Diacarb
Diakarb
Diamox
Diamox (TN)
Diamox Sequels
Didoc
 
Diluran
Dioptic Brand of Acetazolamide
Diuramid
Diuramide
Diureticum-Holzinger
Diureticum-holzinger
Diuriwas
Diutazol
DivK1c_000017
Donmox
Duiramid
EINECS 200-440-5
EU-0100039
Edemox
Eumicton
Fonurit
Glauconox
Glaumox
Glaupax
Glupax
Grin Brand of Acetazolamide
HMS1568A07
HMS1920A05
HMS2091G05
HMS500A19
HSDB 3002
Huma Zolamide
Huma-Zolamide
HumaZolamide
I09-0425
ICN Brand of Acetazolamide
IDI1_000017
Jumer Brand of Acetazolamide
KBio1_000017
KBio2_000358
KBio2_002926
KBio2_005494
KBio3_001288
KBioGR_000558
KBioSS_000358
LS-10227
Llorens Brand of Acetazolamide
Lopac-A-6011
Lopac0_000039
MLS000028435
MLS001148438
Medphano Brand of Acetazolamide
MolPort-001-783-578
Monosodium Salt Acetazolamide
N-[5-(Aminosulfonyl)-1,3,4-thiadiazol-2-yl]acetamide
N-[5-(Aminosulfonyl)-1,3,5-thiadiazol-2-yl]acetamide
NCGC00015074-01
NCGC00015074-02
NCGC00015074-03
NCGC00015074-06
NCGC00015074-11
NCGC00023455-03
NCGC00023455-04
NCGC00023455-05
NCGC00023455-06
NCGC00023455-07
NINDS_000017
NSC 145177
NSC145177
Natrionex
Nephramid
Nephramide
Novopharm Brand of Acetazolamide
Orion Brand of Acetazolamide
Phonurit
Prestwick0_000003
Prestwick1_000003
Prestwick2_000003
Prestwick3_000003
Prestwick_4
SAM002554883
SBB056640
SK-acetazolamide
SMR000058394
SPBio_000004
SPBio_001926
SPECTRUM1500102
Sk-Acetazolamide
Spectrum2_000082
Spectrum3_000284
Spectrum4_000139
Spectrum5_000738
Spectrum_000018
Storz Brand of Acetazolamide Preparation
Storzolamide
UNII-O3FX965V0I
Vetamox
WLN: T5NN DSJ CSZW EMV1
Wassermann Brand of Acetazolamide
Wyeth Brand of Acetazolamide Preparation
acetazolamide

Interventional clinical trials:

(show all 34)
idNameStatusNCT IDPhase
1Endovascular Repair of Descending Thoracic Aortic AneurysmsCompletedNCT00802984Phase 4
2Vasculopathic Injury and Plasma as Endothelial Rescue - OCTAplas Trial (EudraCT no. 2014-000452-28)RecruitingNCT02253082Phase 4
3Effectiveness of Acetazolamide in Reducing Paralysis of the Leg in Patients Undergoing Aortic Aneurysm Surgery SurgeryRecruitingNCT01889498Phase 4
4Effect of Intraoperative Dexmedetomidine on LungNot yet recruitingNCT02678728Phase 4
5Long-term Benefit of Aortic Stent-graft in Patients With Distal Aortic DissectionTerminatedNCT01354119Phase 4
6ATLANTIS:Extensive Type A Dissections and Thoracic/ Thoraco-Abdominal Aneurysms Repair With LupiAe Hybrid TechNiqueWithdrawnNCT01107366Phase 4
7To Evaluate the Safety and Efficacy for GORE TAG Thoracic Endoprosthesis in the Treatment of Thoracic Aortic DiseaseCompletedNCT00757003Phase 3
8Evaluation of the Vascutek Hybrid Graft for Use in the Replacement of the Aortic Arch and Concomitant Treatment of an Aneurysm/Dissection of the Descending Aorta in the Frozen Elephant Trunk ProcedureCompletedNCT01541410Phase 1, Phase 2
9Endovascular Exclusion of Thoracic Aortic AneurysmsRecruitingNCT00583817Phase 1
10Post Market Surveillance Study Evaluating BioFoam Surgical Matrix in Cardiovascular SurgeryCompletedNCT02164201
11Risk Factors for Aortic Dissection in the Chinese PatientsCompletedNCT02267941
12Physician-Sponsored IDE for the Talent Endoluminal Stent Graft System for the Treatment of Thoracic LesionsRecruitingNCT00597870
13Micro RNAs as a Marker of Aortic Aneurysm in Hereditary Aortopathy SyndromesRecruitingNCT02213484
14Is Obstructive Sleep Apnoea a Risk Factor for Thoracic Aortic Aneurysm Expansion? A Prospective Cohort Study.RecruitingNCT02204774
15Hybrid Operation in Thoracic Aortic DissectionRecruitingNCT01500395
16Point-of-Care Focused Cardiac Ultrasound in Assessing the Thoracic AortaRecruitingNCT01671618
17Cardiovascular Health Improvement ProjectRecruitingNCT02306200
18GORE® TAG® Thoracic Endoprosthesis French Mandatory RegistryRecruitingNCT02266342
19Genetic Risks for Bicuspid Aortic Valve DiseaseRecruitingNCT01823432
20Effective Treatments for Thoracic Aortic Aneurysms (ETTAA Study): A Prospective Cohort StudyRecruitingNCT02010892
21Clinical Study of Thoracic Aortic Aneurysm ExclusionRecruitingNCT00549315
22Screening for Thoracic Aortic Aneurysm Among a Cohort of Patients With a Degenerative Abdominal Aortic AneurysmRecruitingNCT01599533
23Endovascular Aortic Repair for Aortic DissectionRecruitingNCT01505309
24Feasibility of Endovascular Repair Of Ascending Aortic PathologiesRecruitingNCT02201589
25International Bicuspid Aortic Valve Consortium (BAVCon)RecruitingNCT01980797
26Risk of Rupture of Aneurysms of the Thoracic Ascending Aorta (ATA) From the Dynamic ImagingRecruitingNCT02538822
27Exercise Stress MRI to Evaluate Aortic Function (Compliance, Distensibility, Pulse Wave Velocity) and Left Ventricular Function : Validation in Healthy Volunteers and in Selected Patients. A Pilot Study.RecruitingNCT02018835
28Development of a Blood Test for Marfan SyndromeRecruitingNCT02148900
29Prospective Follow-up Study of the Aortic Diameter in Patients With Giant Cell ArteritisRecruitingNCT01588483
30The Epidemiology of Aortic Diameter in ChinaRecruitingNCT00820378
31National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular ConditionsActive, not recruitingNCT01322165
32Valiant Thoracic Stent Graft With the Captivia Delivery System in the Treatment of Descending Thoracic Aortic Diseases (VALIANT CAPTIVIA France)Active, not recruitingNCT01775046
33Study to Evaluate the Clinical Performance of the Valiant Thoracic Stent Graft With the Captivia Delivery System (Valiant Captivia) for the Treatment of Acute, Complicated Type B Aortic DissectionsActive, not recruitingNCT01114724
34VALIANT CAPTIVIA Post-market RegistryTerminatedNCT01181947

Search NIH Clinical Center for Thoracic Aortic Aneurysms and Aortic Dissections

Genetic Tests for Thoracic Aortic Aneurysms and Aortic Dissections

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Genetic tests related to Thoracic Aortic Aneurysms and Aortic Dissections:

id Genetic test Affiliating Genes
1 Thoracic Aortic Aneurysms and Aortic Dissections22 24 TGFBR2

Anatomical Context for Thoracic Aortic Aneurysms and Aortic Dissections

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Animal Models for Thoracic Aortic Aneurysms and Aortic Dissections or affiliated genes

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MGI Mouse Phenotypes related to Thoracic Aortic Aneurysms and Aortic Dissections:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.5COL3A1, MYH11, MYLK, SMAD3, TGFBR2
2MP:00053888.4COL3A1, FBN1, MYH11, TGFBR1, TGFBR2
3MP:00107718.3COL3A1, FBN1, MYH11, SMAD3, TGFBR1
4MP:00053908.1FBN1, MYLK, SMAD3, TGFBR1, TGFBR2
5MP:00053697.4ACTA2, COL3A1, FBN1, MYH11, MYLK, TGFBR1
6MP:00107687.3COL3A1, FBN1, MYH11, MYLK, SMAD3, TGFBR1
7MP:00053787.3COL3A1, FBN1, MYH11, MYLK, SMAD3, TGFBR1
8MP:00053766.9COL3A1, FBN1, MYH11, MYLK, SMAD3, TGFBR1
9MP:00053856.8ACTA2, COL3A1, FBN1, MYH11, MYLK, SMAD3

Publications for Thoracic Aortic Aneurysms and Aortic Dissections

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Articles related to Thoracic Aortic Aneurysms and Aortic Dissections:

idTitleAuthorsYear
1
Ruptured thoracic aortic aneurysm and aortic dissection are entirely different entities. (25561704)
2015
2
Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1. (21909107)
2011
3
Persistent Chlamydophila pneumoniae infection in thoracic aortic aneurysm and aortic dissection? (20384541)
2010
4
Genetic basis of thoracic aortic aneurysms and aortic dissections. (16273536)
2005
5
Thoracic aortic aneurysm and aortic dissection: new endoscopic mode for three-dimensional CT display of aorta. (8596868)
1996
6
Thoracic Aortic Aneurysms and Aortic Dissections (20301299)
1993

Variations for Thoracic Aortic Aneurysms and Aortic Dissections

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Clinvar genetic disease variations for Thoracic Aortic Aneurysms and Aortic Dissections:

5 (show all 182)
id Gene Variation Type Significance SNP ID Assembly Location
1COL3A1NM_000090.3(COL3A1): c.1987G> C (p.Gly663Arg)single nucleotide variantPathogenicrs587779433GRCh37Chr 2, 189863409: 189863409
2COL3A1NM_000090.3(COL3A1): c.1662+1G> A (p.Gly537_Pro554del)single nucleotide variantPathogenicrs587779535GRCh37Chr 2, 189860905: 189860905
3COL3A1NM_000090.3(COL3A1): c.2959G> A (p.Gly987Ser)single nucleotide variantLikely pathogenic, Pathogenicrs587779583GRCh37Chr 2, 189870103: 189870103
4COL3A1NM_000090.3(COL3A1): c.1618G> A (p.Gly540Arg)single nucleotide variantPathogenicrs587779584GRCh37Chr 2, 189860860: 189860860
5COL3A1NM_000090.3(COL3A1): c.976C> T (p.Arg326Ter)single nucleotide variantPathogenicrs587779607GRCh37Chr 2, 189856934: 189856934
6COL3A1NM_000090.3(COL3A1): c.709G> A (p.Gly237Arg)single nucleotide variantPathogenicrs587779625GRCh37Chr 2, 189854840: 189854840
7COL3A1NM_000090.3(COL3A1): c.1988G> T (p.Gly663Val)single nucleotide variantLikely pathogenic, Pathogenicrs587779454GRCh37Chr 2, 189863410: 189863410
8COL3A1NM_000090.3(COL3A1): c.997-1G> C (p.Gly333_Lys350del+)single nucleotide variantPathogenicrs587779687GRCh37Chr 2, 189857612: 189857612
9MYH11NM_022844.2(MYH11): c.2135G> A (p.Arg712Gln)single nucleotide variantLikely pathogenic, Pathogenicrs267606902GRCh37Chr 16, 15841949: 15841949
10FBN1NM_000138.4(FBN1): c.7660C> T (p.Arg2554Trp)single nucleotide variantPathogenicrs369294972GRCh37Chr 15, 48713794: 48713794
11MYH11NM_001040113.1(MYH11): c.2026C> T (p.Arg676Cys)single nucleotide variantPathogenicrs111404182GRCh37Chr 16, 15844048: 15844048
12FBN1NM_000138.4(FBN1): c.8080C> T (p.Arg2694Ter)single nucleotide variantPathogenicrs200309328GRCh37Chr 15, 48704912: 48704912
13FBN1NM_000138.4(FBN1): c.7754T> C (p.Ile2585Thr)single nucleotide variantLikely pathogenic, Pathogenicrs727503054GRCh37Chr 15, 48712949: 48712949
14FBN1NM_000138.4(FBN1): c.8326C> T (p.Arg2776Ter)single nucleotide variantLikely pathogenic, Pathogenicrs137854466GRCh37Chr 15, 48703477: 48703477
15FBN1NM_000138.4(FBN1): c.364C> T (p.Arg122Cys)single nucleotide variantPathogenicrs137854467GRCh37Chr 15, 48892414: 48892414
16FBN1NM_000138.4(FBN1): c.8176C> T (p.Arg2726Trp)single nucleotide variantLikely pathogenic, Pathogenicrs61746008GRCh37Chr 15, 48704816: 48704816
17FBN1NM_000138.4(FBN1): c.3509G> A (p.Arg1170His)single nucleotide variantPathogenicrs137854475GRCh37Chr 15, 48779352: 48779352
18FBN1NM_000138.4(FBN1): c.1585C> T (p.Arg529Ter)single nucleotide variantPathogenicrs137854476GRCh37Chr 15, 48805749: 48805749
19FBN1NM_000138.4(FBN1): c.718C> T (p.Arg240Cys)single nucleotide variantPathogenicrs137854480GRCh37Chr 15, 48829826: 48829826
20COL3A1NM_000090.3(COL3A1): c.1744G> A (p.Gly582Ser)single nucleotide variantPathogenicrs121912923GRCh37Chr 2, 189861205: 189861205
21FBN1NM_000138.4(FBN1): c.3037G> A (p.Gly1013Arg)single nucleotide variantPathogenicrs140593GRCh37Chr 15, 48782093: 48782093
22ACTA2NM_001613.2(ACTA2): c.445C> T (p.Arg149Cys)single nucleotide variantPathogenicrs121434526GRCh37Chr 10, 90701551: 90701551
23NM_001613.2(ACTA2): c.773G> A (p.Arg258His)single nucleotide variantPathogenicrs121434527GRCh37Chr 10, 90699299: 90699299
24ACTA2NM_001613.2(ACTA2): c.1A> G (p.Met1Val)single nucleotide variantPathogenicrs794728019GRCh37Chr 10, 90708687: 90708687
25ACTA2NM_001613.2(ACTA2): c.116G> A (p.Arg39His)single nucleotide variantPathogenicrs794728021GRCh37Chr 10, 90708572: 90708572
26ACTA2NM_001613.2(ACTA2): c.353G> A (p.Arg118Gln)single nucleotide variantPathogenicrs112602953GRCh38Chr 10, 88943813: 88943813
27ACTA2NM_001613.2(ACTA2): c.478G> A (p.Gly160Ser)single nucleotide variantPathogenicrs794728026GRCh38Chr 10, 88941367: 88941367
28NM_001613.2(ACTA2): c.809G> A (p.Gly270Glu)single nucleotide variantPathogenicrs794728029GRCh38Chr 10, 88938242: 88938242
29COL3A1NM_000090.3(COL3A1): c.1241G> T (p.Gly414Val)single nucleotide variantPathogenicrs794728044GRCh37Chr 2, 189859006: 189859006
30COL3A1NM_000090.3(COL3A1): c.2338-2A> Gsingle nucleotide variantPathogenicrs794728050GRCh37Chr 2, 189866260: 189866260
31COL3A1NM_000090.3(COL3A1): c.4072C> T (p.Arg1358Ter)single nucleotide variantPathogenicrs794728057GRCh38Chr 2, 189010708: 189010708
32COL3A1NM_000090.3(COL3A1): c.4180_4189delGGGTCAAATG (p.Gly1394Lysfs)deletionPathogenicrs794728059GRCh37Chr 2, 189875542: 189875551
33COL3A1NM_000090.3(COL3A1): c.4087C> T (p.Arg1363Ter)single nucleotide variantPathogenicrs794728060GRCh38Chr 2, 189010723: 189010723
34FBN1NM_000138.4(FBN1): c.539-1G> Asingle nucleotide variantPathogenicrs794728161GRCh38Chr 15, 48537809: 48537809
35FBN1NM_000138.4(FBN1): c.640G> A (p.Gly214Ser)single nucleotide variantPathogenicrs794728162GRCh38Chr 15, 48537707: 48537707
36FBN1NM_000138.4(FBN1): c.813C> A (p.Cys271Ter)single nucleotide variantPathogenicrs765692335GRCh38Chr 15, 48534129: 48534129
37FBN1NM_000138.4(FBN1): c.1090C> T (p.Arg364Ter)single nucleotide variantPathogenicrs794728165GRCh38Chr 15, 48520716: 48520716
38FBN1NM_000138.4(FBN1): c.1148-2A> Csingle nucleotide variantPathogenicrs397515756GRCh37Chr 15, 48808561: 48808561
39FBN1NM_000138.4(FBN1): c.1421G> A (p.Cys474Tyr)single nucleotide variantPathogenicrs794728166GRCh38Chr 15, 48515434: 48515434
40FBN1NM_000138.4(FBN1): c.1468+2T> Csingle nucleotide variantPathogenicrs794728167GRCh38Chr 15, 48515385: 48515385
41FBN1NM_000138.4(FBN1): c.1583G> A (p.Cys528Tyr)single nucleotide variantPathogenicrs794728170GRCh38Chr 15, 48513554: 48513554
42FBN1NM_000138.4(FBN1): c.1664G> T (p.Cys555Phe)single nucleotide variantPathogenicrs794728172GRCh38Chr 15, 48510094: 48510094
43FBN1NM_000138.4(FBN1): c.1693C> T (p.Arg565Ter)single nucleotide variantPathogenicrs794728173GRCh38Chr 15, 48510065: 48510065
44FBN1NM_000138.4(FBN1): c.1726T> G (p.Cys576Gly)single nucleotide variantPathogenicrs794728174GRCh37Chr 15, 48800890: 48800890
45FBN1NM_000138.4(FBN1): c.1759T> G (p.Cys587Gly)single nucleotide variantPathogenicrs794728175GRCh37Chr 15, 48800857: 48800857
46FBN1NM_000138.4(FBN1): c.1817C> A (p.Ser606Ter)single nucleotide variantPathogenicrs794728176GRCh38Chr 15, 48508602: 48508602
47FBN1NM_000138.4(FBN1): c.2055C> A (p.Cys685Ter)single nucleotide variantPathogenicrs140603GRCh38Chr 15, 48503845: 48503845
48FBN1NM_000138.4(FBN1): c.1889A> T (p.Asn630Ile)single nucleotide variantPathogenicrs794728178GRCh38Chr 15, 48505096: 48505096
49FBN1NM_000138.4(FBN1): c.1890C> A (p.Asn630Lys)single nucleotide variantPathogenicrs794728179GRCh38Chr 15, 48505095: 48505095
50FBN1NM_000138.4(FBN1): c.2180G> A (p.Cys727Tyr)single nucleotide variantPathogenicrs794728186GRCh38Chr 15, 48497379: 48497379
51FBN1NM_000138.4(FBN1): c.2201G> T (p.Cys734Phe)single nucleotide variantPathogenicrs794728187GRCh37Chr 15, 48789555: 48789555
52FBN1NM_000138.4(FBN1): c.2306G> A (p.Cys769Tyr)single nucleotide variantPathogenicrs794728190GRCh38Chr 15, 48496213: 48496213
53FBN1NM_000138.4(FBN1): c.2539+1G> Asingle nucleotide variantPathogenicrs794728192GRCh38Chr 15, 48495468: 48495468
54FBN1NM_000138.4(FBN1): c.2638G> A (p.Gly880Ser)single nucleotide variantPathogenicrs794728194GRCh38Chr 15, 48495162: 48495162
55FBN1NM_000138.4(FBN1): c.2645C> T (p.Ala882Val)single nucleotide variantPathogenicrs794728195GRCh38Chr 15, 48495155: 48495155
56FBN1NM_000138.4(FBN1): c.2671C> T (p.Gln891Ter)single nucleotide variantPathogenicrs794728196GRCh38Chr 15, 48495129: 48495129
57FBN1NM_000138.4(FBN1): c.2806C> T (p.Gln936Ter)single nucleotide variantPathogenicrs794728197GRCh38Chr 15, 48492509: 48492509
58FBN1NM_000138.4(FBN1): c.2861G> A (p.Arg954His)single nucleotide variantPathogenicrs794728198GRCh38Chr 15, 48490072: 48490072
59FBN1NM_000138.4(FBN1): c.2926C> T (p.Arg976Cys)single nucleotide variantPathogenicrs548296552GRCh38Chr 15, 48490007: 48490007
60FBN1NM_000138.4(FBN1): c.2953G> A (p.Gly985Arg)single nucleotide variantPathogenicrs794728199GRCh38Chr 15, 48489980: 48489980
61FBN1NM_000138.4(FBN1): c.3173G> T (p.Gly1058Val)single nucleotide variantPathogenicrs794728202GRCh37Chr 15, 48780600: 48780600
62FBN1NM_000138.4(FBN1): c.3344A> G (p.Asp1115Gly)single nucleotide variantPathogenicrs794728203GRCh38Chr 15, 48487431: 48487431
63FBN1NM_000138.4(FBN1): c.3463G> A (p.Asp1155Asn)single nucleotide variantPathogenicrs794728204GRCh38Chr 15, 48487312: 48487312
64FBN1NM_000138.4(FBN1): c.3513C> A (p.Cys1171Ter)single nucleotide variantPathogenicrs775417975GRCh38Chr 15, 48487151: 48487151
65FBN1NM_000138.4(FBN1): c.3712G> A (p.Asp1238Asn)single nucleotide variantPathogenicrs794728208GRCh37Chr 15, 48777571: 48777571
66FBN1NM_000138.4(FBN1): c.3712+1G> Asingle nucleotide variantPathogenicrs794728209GRCh38Chr 15, 48485373: 48485373
67FBN1NM_000138.4(FBN1): c.3839-1G> Tsingle nucleotide variantPathogenicrs794728211GRCh38Chr 15, 48481781: 48481781
68FBN1NM_000138.4(FBN1): c.3964+1G> Asingle nucleotide variantPathogenicrs794728212GRCh38Chr 15, 48481654: 48481654
69FBN1NM_000138.4(FBN1): c.164+1G> Asingle nucleotide variantPathogenicrs794728213GRCh38Chr 15, 48644605: 48644605
70FBN1NM_000138.4(FBN1): c.4050C> A (p.Cys1350Ter)single nucleotide variantPathogenicrs201058219GRCh37Chr 15, 48766762: 48766762
71FBN1NM_000138.4(FBN1): c.4062G> A (p.Trp1354Ter)single nucleotide variantPathogenicrs794728215GRCh37Chr 15, 48766750: 48766750
72FBN1NM_000138.4(FBN1): c.4337-2A> Gsingle nucleotide variantPathogenicrs794728216GRCh38Chr 15, 48470758: 48470758
73FBN1NM_000138.4(FBN1): c.4096G> A (p.Glu1366Lys)single nucleotide variantPathogenicrs763449629GRCh37Chr 15, 48766566: 48766566
74FBN1NM_000138.4(FBN1): c.4146T> A (p.Asn1382Lys)single nucleotide variantPathogenicrs794728218GRCh37Chr 15, 48766516: 48766516
75FBN1NM_000138.4(FBN1): c.4214T> G (p.Leu1405Arg)single nucleotide variantPathogenicrs767606368GRCh38Chr 15, 48472673: 48472673
76FBN1NM_000138.4(FBN1): c.4621C> T (p.Arg1541Ter)single nucleotide variantPathogenicrs794728228GRCh38Chr 15, 48468064: 48468064
77FBN1NM_000138.4(FBN1): c.4888C> T (p.Gln1630Ter)single nucleotide variantPathogenicrs794728231GRCh38Chr 15, 48465622: 48465622
78FBN1NM_000138.4(FBN1): c.5021G> T (p.Cys1674Phe)single nucleotide variantPathogenicrs794728233GRCh38Chr 15, 48463943: 48463943
79FBN1NM_000138.4(FBN1): c.5097C> G (p.Tyr1699Ter)single nucleotide variantPathogenicrs368979510GRCh38Chr 15, 48463209: 48463209
80FBN1NM_000138.4(FBN1): c.5208T> A (p.Cys1736Ter)single nucleotide variantPathogenicrs794728234GRCh38Chr 15, 48463098: 48463098
81FBN1NM_000138.4(FBN1): c.5197T> G (p.Cys1733Gly)single nucleotide variantPathogenicrs794728235GRCh38Chr 15, 48463109: 48463109
82FBN1NM_000138.4(FBN1): c.5700T> A (p.Cys1900Ter)single nucleotide variantPathogenicrs794728236GRCh38Chr 15, 48446794: 48446794
83FBN1NM_000138.4(FBN1): c.5431G> A (p.Glu1811Lys)single nucleotide variantPathogenicrs761857514GRCh38Chr 15, 48452676: 48452676
84FBN1NM_000138.4(FBN1): c.5513G> A (p.Gly1838Asp)single nucleotide variantPathogenicrs78970689GRCh37Chr 15, 48744791: 48744791
85FBN1NM_000138.4(FBN1): c.5699G> A (p.Cys1900Tyr)single nucleotide variantPathogenicrs794728237GRCh37Chr 15, 48738992: 48738992
86FBN1NM_000138.4(FBN1): c.5746T> C (p.Cys1916Arg)single nucleotide variantPathogenicrs794728238GRCh38Chr 15, 48446748: 48446748
87FBN1NM_000138.4(FBN1): c.5801G> A (p.Cys1934Tyr)single nucleotide variantPathogenicrs794728240GRCh38Chr 15, 48445492: 48445492
88FBN1NM_000138.4(FBN1): c.6164-2A> Tsingle nucleotide variantPathogenicrs794728244GRCh38Chr 15, 48437919: 48437919
89FBN1NM_000138.4(FBN1): c.6169C> T (p.Arg2057Ter)single nucleotide variantPathogenicrs763091520GRCh38Chr 15, 48437912: 48437912
90FBN1NM_000138.4(FBN1): c.6630T> A (p.Cys2210Ter)single nucleotide variantPathogenicrs397515836GRCh38Chr 15, 48432975: 48432975
91FBN1NM_000138.4(FBN1): c.6251G> T (p.Cys2084Phe)single nucleotide variantPathogenicrs794728245GRCh38Chr 15, 48437830: 48437830
92FBN1NM_000138.4(FBN1): c.6274T> C (p.Trp2092Arg)single nucleotide variantPathogenicrs794728246GRCh38Chr 15, 48437807: 48437807
93FBN1NM_000138.4(FBN1): c.6418G> A (p.Gly2140Arg)single nucleotide variantPathogenicrs794728249GRCh38Chr 15, 48437039: 48437039
94FBN1NM_000138.4(FBN1): c.6448C> T (p.Arg2150Cys)single nucleotide variantPathogenicrs76702162GRCh37Chr 15, 48729206: 48729206
95FBN1NM_000138.4(FBN1): c.6449G> T (p.Arg2150Leu)single nucleotide variantPathogenicrs794728250GRCh38Chr 15, 48437008: 48437008
96FBN1NM_000138.4(FBN1): c.6453C> G (p.Cys2151Trp)single nucleotide variantPathogenicrs794728251GRCh38Chr 15, 48437004: 48437004
97FBN1NM_000138.4(FBN1): c.6496G> A (p.Asp2166Asn)single nucleotide variantPathogenicrs794728252GRCh37Chr 15, 48729158: 48729158
98FBN1NM_000138.4(FBN1): c.6496G> C (p.Asp2166His)single nucleotide variantPathogenicrs794728252GRCh37Chr 15, 48729158: 48729158
99FBN1NM_000138.4(FBN1): c.6752G> A (p.Cys2251Tyr)single nucleotide variantPathogenicrs794728256GRCh37Chr 15, 48722987: 48722987
100FBN1NM_000138.4(FBN1): c.6871G> A (p.Asp2291Asn)single nucleotide variantPathogenicrs794728257GRCh37Chr 15, 48722868: 48722868
101FBN1NM_000138.4(FBN1): c.6871+1G> Tsingle nucleotide variantPathogenicrs794728258GRCh38Chr 15, 48430670: 48430670
102FBN1NM_000138.4(FBN1): c.7003C> T (p.Arg2335Trp)single nucleotide variantPathogenicrs794728262GRCh38Chr 15, 48427768: 48427768
103FBN1NM_000138.4(FBN1): c.7111T> C (p.Trp2371Arg)single nucleotide variantPathogenicrs794728264GRCh37Chr 15, 48719857: 48719857
104FBN1NM_000138.4(FBN1): c.7125T> A (p.Cys2375Ter)single nucleotide variantPathogenicrs794728265GRCh38Chr 15, 48427646: 48427646
105FBN1NM_000138.4(FBN1): c.7205-1G> Asingle nucleotide variantPathogenicrs794728266GRCh38Chr 15, 48425865: 48425865
106FBN1NM_000138.4(FBN1): c.7267G> T (p.Gly2423Ter)single nucleotide variantPathogenicrs794728271GRCh38Chr 15, 48425802: 48425802
107FBN1NM_000138.4(FBN1): c.7531T> C (p.Cys2511Arg)single nucleotide variantPathogenicrs794728272GRCh38Chr 15, 48421991: 48421991
108FBN1NM_000138.4(FBN1): c.7604G> A (p.Cys2535Tyr)single nucleotide variantPathogenicrs794728275GRCh38Chr 15, 48421653: 48421653
109FBN1NM_000138.4(FBN1): c.7624C> T (p.Gln2542Ter)single nucleotide variantPathogenicrs794728276GRCh38Chr 15, 48421633: 48421633
110FBN1NM_000138.4(FBN1): c.7775G> A (p.Cys2592Tyr)single nucleotide variantPathogenicrs794728277GRCh38Chr 15, 48420731: 48420731
111FBN1NM_000138.4(FBN1): c.7916A> G (p.Tyr2639Cys)single nucleotide variantPathogenicrs794728280GRCh38Chr 15, 48415671: 48415671
112FBN1NM_000138.4(FBN1): c.8005G> T (p.Gly2669Cys)single nucleotide variantPathogenicrs794728281GRCh37Chr 15, 48707779: 48707779
113FBN1NM_000138.4(FBN1): c.8010C> G (p.Tyr2670Ter)single nucleotide variantPathogenicrs794728282GRCh38Chr 15, 48415577: 48415577
114FBN1NM_000138.4(FBN1): c.8038C> T (p.Arg2680Cys)single nucleotide variantPathogenicrs794728283GRCh38Chr 15, 48415549: 48415549
115FBN1NM_000138.4(FBN1): c.8226+5G> Asingle nucleotide variantPathogenicrs193922243GRCh37Chr 15, 48704761: 48704761
116FBN1NM_000138.4(FBN1): c.8599C> T (p.Gln2867Ter)single nucleotide variantPathogenicrs794728288GRCh37Chr 15, 48703204: 48703204
117FBN1NM_000138.4(FBN1): c.212G> C (p.Trp71Ser)single nucleotide variantPathogenicrs794728289GRCh37Chr 15, 48905242: 48905242
118FBN1NM_000138.4(FBN1): c.266G> A (p.Cys89Tyr)single nucleotide variantPathogenicrs112660651GRCh38Chr 15, 48610808: 48610808
119FBN1NM_000138.4(FBN1): c.1191delG (p.Arg398Aspfs)deletionPathogenicrs794728295GRCh37Chr 15, 48808516: 48808516
120FBN1NM_000138.4(FBN1): c.1624_1634delAATAATGGACG (p.Asn542Leufs)deletionPathogenicrs794728296GRCh38Chr 15, 48510124: 48510134
121FBN1NM_000138.4(FBN1): c.1679dupG (p.Phe561Leufs)duplicationPathogenicrs794728297GRCh38Chr 15, 48510079: 48510079
122FBN1NM_000138.4(FBN1): c.2180dupG (p.Cys727Trpfs)duplicationPathogenicrs794728299GRCh38Chr 15, 48497379: 48497379
123FBN1NM_000138.4(FBN1): c.2262_2263delTG (p.Tyr754Terfs)deletionPathogenicrs794728300GRCh38Chr 15, 48497296: 48497297
124FBN1NM_000138.4(FBN1): c.2569_2570delGT (p.Val857Hisfs)deletionPathogenicrs794728301GRCh38Chr 15, 48495230: 48495231
125FBN1NM_000138.4(FBN1): c.2601dupT (p.Gly868Trpfs)duplicationPathogenicrs794728302GRCh38Chr 15, 48495199: 48495199
126FBN1NM_000138.4(FBN1): c.2701delT (p.Ser901Glnfs)deletionPathogenicrs794728303GRCh37Chr 15, 48786428: 48786428
127FBN1NM_000138.4(FBN1): c.2712_2716delAGGAA (p.Lys904Asnfs)deletionPathogenicrs794728304GRCh38Chr 15, 48494216: 48494220
128FBN1NM_000138.4(FBN1): c.2786_2789dupCTAG (p.Arg930Serfs)duplicationPathogenicrs794728305GRCh38Chr 15, 48492526: 48492529
129FBN1NM_000138.4(FBN1): c.3424_3427dupCCTG (p.Gly1143Alafs)duplicationPathogenicrs794728306GRCh38Chr 15, 48487348: 48487351
130FBN1NM_000138.4(FBN1): c.162delA (p.Gly55Aspfs)deletionPathogenicrs794728307GRCh38Chr 15, 48644608: 48644608
131FBN1NM_000138.4(FBN1): c.4405delC (p.Arg1469Alafs)deletionPathogenicrs794728308GRCh37Chr 15, 48762885: 48762885
132FBN1NM_000138.4(FBN1): c.4425delC (p.Tyr1476Thrfs)deletionPathogenicrs794728309GRCh38Chr 15, 48470668: 48470668
133FBN1NM_000138.4(FBN1): c.4429dupG (p.Glu1477Glyfs)duplicationPathogenicrs794728310GRCh38Chr 15, 48470664: 48470664
134FBN1NM_000138.4(FBN1): c.5817delG (p.Asn1940Ilefs)deletionPathogenicrs794728311GRCh38Chr 15, 48445476: 48445476
135FBN1NM_000138.4(FBN1): c.5893delG (p.Ala1965Leufs)deletionPathogenicrs794728312GRCh38Chr 15, 48445400: 48445400
136FBN1NM_000138.4(FBN1): c.5957dupC (p.Gly1987Argfs)duplicationPathogenicrs794728313GRCh38Chr 15, 48444621: 48444621
137FBN1NM_000138.4(FBN1): c.6129delG (p.Ser2045Profs)deletionPathogenicrs794728314GRCh38Chr 15, 48441755: 48441755
138FBN1NM_000138.4(FBN1): c.6163+2dupTduplicationPathogenicrs794728315GRCh38Chr 15, 48441719: 48441719
139FBN1NM_000138.4(FBN1): c.6406_6407dupGT (p.Cys2137Serfs)duplicationPathogenicrs794728317GRCh38Chr 15, 48437050: 48437051
140FBN1NM_000138.4(FBN1): c.6722_6725dupACCG (p.Arg2243Profs)duplicationPathogenicrs794728318GRCh38Chr 15, 48432880: 48432883
141FBN1NM_000138.4(FBN1): c.7039_7040delAT (p.Met2347Valfs)deletionPathogenicrs794728319GRCh38Chr 15, 48427731: 48427732
142FBN1NM_000138.4(FBN1): c.7599delT (p.Leu2534Cysfs)deletionPathogenicrs794728320GRCh38Chr 15, 48421658: 48421658
143FBN1NM_000138.4(FBN1): c.8154dupT (p.Lys2719Terfs)duplicationPathogenicrs794728321GRCh37Chr 15, 48704838: 48704838
144FBN1NM_000138.4(FBN1): c.2728+1G> Csingle nucleotide variantPathogenicrs794728322GRCh38Chr 15, 48494203: 48494203
145FBN1NM_000138.4(FBN1): c.8544delA (p.Lys2848Asnfs)deletionPathogenicrs794728323GRCh38Chr 15, 48411062: 48411062
146FBN1NM_000138.4(FBN1): c.225delT (p.Gly76Alafs)deletionPathogenicrs794728324GRCh38Chr 15, 48613032: 48613032
147FBN1NM_000138.4(FBN1): c.1147G> A (p.Glu383Lys)single nucleotide variantPathogenicrs794728325GRCh37Chr 15, 48812856: 48812856
148FBN1NM_000138.4(FBN1): c.1426T> G (p.Cys476Gly)single nucleotide variantPathogenicrs794728326GRCh37Chr 15, 48807626: 48807626
149FBN1NM_000138.4(FBN1): c.3668G> T (p.Cys1223Phe)single nucleotide variantPathogenicrs137854469GRCh37Chr 15, 48777615: 48777615
150FBN1NM_000138.4(FBN1): c.3974A> C (p.Glu1325Ala)single nucleotide variantPathogenicrs794728331GRCh38Chr 15, 48474641: 48474641
151FBN1NM_000138.4(FBN1): c.4930C> T (p.Arg1644Ter)single nucleotide variantPathogenicrs140630GRCh37Chr 15, 48757777: 48757777
152FBN1NM_000138.4(FBN1): c.5015G> A (p.Cys1672Tyr)single nucleotide variantPathogenicrs140627GRCh38Chr 15, 48463949: 48463949
153FBN1NM_000138.4(FBN1): c.5726T> C (p.Ile1909Thr)single nucleotide variantPathogenicrs794728333GRCh38Chr 15, 48446768: 48446768
154FBN1NM_000138.4(FBN1): c.6388G> A (p.Glu2130Lys)single nucleotide variantPathogenicrs794728334GRCh38Chr 15, 48437069: 48437069
155FBN1NM_000138.4(FBN1): c.6425G> A (p.Cys2142Tyr)single nucleotide variantPathogenicrs794728335GRCh38Chr 15, 48437032: 48437032
156FBN1NM_000138.4(FBN1): c.6496G> T (p.Asp2166Tyr)single nucleotide variantPathogenicrs794728252GRCh38Chr 15, 48436961: 48436961
157FBN1NM_000138.4(FBN1): c.1297_1300dupGAAT (p.Tyr434Terfs)duplicationPathogenicrs794728341GRCh38Chr 15, 48516210: 48516213
158FBN1NM_000138.4(FBN1): c.3401dupG (p.Ser1135Lysfs)duplicationPathogenicrs794728342GRCh37Chr 15, 48779571: 48779571
159FBN1NM_000138.4(FBN1): c.3773delC (p.Pro1258Leufs)deletionPathogenicrs794728343GRCh38Chr 15, 48483883: 48483883
160FBN1NM_000138.4(FBN1): c.8064delT (p.Gly2689Glufs)deletionPathogenicrs794728344GRCh37Chr 15, 48704928: 48704928
161NM_002474.2(MYH11): c.4578+2dupTduplicationPathogenicrs794728677GRCh37Chr 16, 15815277: 15815277
162ACTA2NM_001613.2(ACTA2): c.536G> A (p.Arg179His)single nucleotide variantPathogenicrs387906592GRCh37Chr 10, 90701066: 90701066
163FBN1NM_000138.4(FBN1): c.4786C> T (p.Arg1596Ter)single nucleotide variantPathogenicrs113871094GRCh37Chr 15, 48758017: 48758017
164FBN1NM_000138.4(FBN1): c.7806G> A (p.Trp2602Ter)single nucleotide variantLikely pathogenic, Pathogenicrs193922236GRCh37Chr 15, 48712897: 48712897
165FBN1NM_000138.4(FBN1): c.1468+5G> Asingle nucleotide variantPathogenicrs397515757GRCh37Chr 15, 48807579: 48807579
166FBN1NM_000138.4(FBN1): c.1546C> T (p.Arg516Ter)single nucleotide variantPathogenicrs113812345GRCh37Chr 15, 48805788: 48805788
167FBN1NM_000138.4(FBN1): c.247+1G> Asingle nucleotide variantPathogenicrs25404GRCh37Chr 15, 48905206: 48905206
168FBN1NM_000138.4(FBN1): c.4259G> A (p.Cys1420Tyr)single nucleotide variantLikely pathogenic, Pathogenicrs397515804GRCh37Chr 15, 48764825: 48764825
169FBN1NM_000138.4(FBN1): c.4270C> G (p.Pro1424Ala)single nucleotide variantPathogenicrs201273753GRCh37Chr 15, 48764814: 48764814
170FBN1NM_000138.4(FBN1): c.4615C> T (p.Arg1539Ter)single nucleotide variantPathogenicrs111231312GRCh37Chr 15, 48760267: 48760267
171FBN1NM_000138.4(FBN1): c.5368C> T (p.Arg1790Ter)single nucleotide variantPathogenicrs113249837GRCh37Chr 15, 48748888: 48748888
172FBN1NM_000138.4(FBN1): c.5504G> A (p.Cys1835Tyr)single nucleotide variantLikely pathogenic, Pathogenicrs111929350GRCh37Chr 15, 48744800: 48744800
173FBN1NM_000138.4(FBN1): c.5863C> T (p.Gln1955Ter)single nucleotide variantPathogenicrs363807GRCh37Chr 15, 48737627: 48737627
174FBN1NM_000138.4(FBN1): c.5788+5G> Asingle nucleotide variantPathogenicrs193922219GRCh37Chr 15, 48738898: 48738898
175FBN1NM_000138.4(FBN1): c.6658C> T (p.Arg2220Ter)single nucleotide variantLikely pathogenic, Pathogenicrs113001196GRCh37Chr 15, 48725144: 48725144
176FBN1NM_000138.4(FBN1): c.7167_7168delCT (p.Cys2390Serfs)deletionPathogenicrs397515846GRCh37Chr 15, 48719800: 48719801
177FBN1NM_000138.4(FBN1): c.7606G> A (p.Gly2536Arg)single nucleotide variantPathogenicrs397515854GRCh37Chr 15, 48713848: 48713848
178FBN1NM_000138.4(FBN1): c.7852G> A (p.Gly2618Arg)single nucleotide variantPathogenicrs141133182GRCh37Chr 15, 48707932: 48707932
179FBN1NM_000138.4(FBN1): c.7955G> A (p.Cys2652Tyr)single nucleotide variantLikely pathogenic, Pathogenicrs397515859GRCh37Chr 15, 48707829: 48707829
180NM_001613.2(ACTA2): c.635G> A (p.Arg212Gln)single nucleotide variantLikely pathogenic, Pathogenicrs397516685GRCh37Chr 10, 90699437: 90699437
181ACTA2NM_001141945.1(ACTA2): c.115C> T (p.Arg39Cys)single nucleotide variantPathogenicrs112901682GRCh37Chr 10, 90708573: 90708573
182MYH11NM_002474.2(MYH11): c.3791T> C (p.Leu1264Pro)single nucleotide variantPathogenicrs201831933GRCh38Chr 16, 15726915: 15726915

Expression for genes affiliated with Thoracic Aortic Aneurysms and Aortic Dissections

About this section
Search GEO for disease gene expression data for Thoracic Aortic Aneurysms and Aortic Dissections.

Pathways for genes affiliated with Thoracic Aortic Aneurysms and Aortic Dissections

About this section

Pathways related to Thoracic Aortic Aneurysms and Aortic Dissections according to GeneCards Suite gene sharing:

(show all 41)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1TGFBR1, TGFBR2
2
Show member pathways
9.1TGFBR1, TGFBR2
39.1TGFBR1, TGFBR2
49.1TGFBR1, TGFBR2
5
Show member pathways
9.1ACTA2, MYH11, MYLK
6
Show member pathways
9.1ACTA2, MYH11, MYLK
79.0SMAD3, TGFBR1
89.0SMAD3, TGFBR1
98.5SMAD3, TGFBR1, TGFBR2
108.5SMAD3, TGFBR1, TGFBR2
118.5SMAD3, TGFBR1, TGFBR2
128.5SMAD3, TGFBR1, TGFBR2
13
Show member pathways
8.5SMAD3, TGFBR1, TGFBR2
14
Show member pathways
8.5SMAD3, TGFBR1, TGFBR2
158.5SMAD3, TGFBR1, TGFBR2
168.5SMAD3, TGFBR1, TGFBR2
17
Show member pathways
8.5SMAD3, TGFBR1, TGFBR2
18
Show member pathways
8.5SMAD3, TGFBR1, TGFBR2
19
Show member pathways
8.5SMAD3, TGFBR1, TGFBR2
208.5SMAD3, TGFBR1, TGFBR2
21
Show member pathways
8.5SMAD3, TGFBR1, TGFBR2
22
Show member pathways
8.5SMAD3, TGFBR1, TGFBR2
23
Show member pathways
8.5SMAD3, TGFBR1, TGFBR2
24
Show member pathways
8.5SMAD3, TGFBR1, TGFBR2
258.5SMAD3, TGFBR1, TGFBR2
268.5SMAD3, TGFBR1, TGFBR2
278.5SMAD3, TGFBR1, TGFBR2
288.5SMAD3, TGFBR1, TGFBR2
29
Show member pathways
8.5SMAD3, TGFBR1, TGFBR2
30
TGF-beta signaling pathway (KEGG)
Show member pathways
8.5SMAD3, TGFBR1, TGFBR2
31
Show member pathways
8.5SMAD3, TGFBR1, TGFBR2
328.5SMAD3, TGFBR1, TGFBR2
33
TGF-beta Signaling Pathway (sino)
Show member pathways
8.5SMAD3, TGFBR1, TGFBR2
34
Show member pathways
8.5SMAD3, TGFBR1, TGFBR2
35
Show member pathways
8.4ACTA2, COL3A1, FBN1, TGFBR1
36
Show member pathways
8.3ACTA2, MYH11, TGFBR1, TGFBR2
37
Show member pathways
8.2ACTA2, MYLK, TGFBR1, TGFBR2
388.1ACTA2, SMAD3, TGFBR1, TGFBR2
39
Show member pathways
7.2ACTA2, MYH11, MYLK, SMAD3, TGFBR1, TGFBR2
40
Show member pathways
7.0ACTA2, COL3A1, FBN1, MYH11, MYLK, TGFBR1
41
Show member pathways
6.4ACTA2, COL3A1, FBN1, MYH11, MYLK, SMAD3

GO Terms for genes affiliated with Thoracic Aortic Aneurysms and Aortic Dissections

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Cellular components related to Thoracic Aortic Aneurysms and Aortic Dissections according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1transforming growth factor beta receptor homodimeric complexGO:00700229.4TGFBR1, TGFBR2
2receptor complexGO:00432358.5SMAD3, TGFBR1, TGFBR2

Biological processes related to Thoracic Aortic Aneurysms and Aortic Dissections according to GeneCards Suite gene sharing:

(show all 23)
idNameGO IDScoreTop Affiliating Genes
1smooth muscle contractionGO:000693910.2MYH11, MYLK
2cellular response to transforming growth factor beta stimulusGO:00715609.8FBN1, TGFBR1
3blood vessel developmentGO:00015689.7COL3A1, TGFBR2
4gastrulationGO:00073699.7SMAD3, TGFBR2
5pathway-restricted SMAD protein phosphorylationGO:00603899.7TGFBR1, TGFBR2
6signal transduction by protein phosphorylationGO:00230149.6TGFBR1, TGFBR2
7response to cholesterolGO:00707239.6TGFBR1, TGFBR2
8response to mechanical stimulusGO:00096129.6COL3A1, TGFBR2
9peptidyl-threonine phosphorylationGO:00181079.6TGFBR1, TGFBR2
10aorta smooth muscle tissue morphogenesisGO:00604149.5COL3A1, MYLK
11activin receptor signaling pathwayGO:00329249.5SMAD3, TGFBR1
12lens development in camera-type eyeGO:00020889.5TGFBR1, TGFBR2
13muscle contractionGO:00069369.5ACTA2, MYH11, MYLK
14collagen fibril organizationGO:00301999.2COL3A1, TGFBR1
15digestive tract developmentGO:00485659.2COL3A1, TGFBR2
16negative regulation of transforming growth factor beta receptor signaling pathwayGO:00305128.9SMAD3, TGFBR1, TGFBR2
17in utero embryonic developmentGO:00017018.9SMAD3, TGFBR1, TGFBR2
18embryonic cranial skeleton morphogenesisGO:00487018.8SMAD3, TGFBR1, TGFBR2
19positive regulation of gene expressionGO:00106288.8ACTA2, SMAD3, TGFBR1
20heart developmentGO:00075078.5COL3A1, FBN1, TGFBR1, TGFBR2
21skeletal system developmentGO:00015018.5COL3A1, FBN1, SMAD3, TGFBR1
22transforming growth factor beta receptor signaling pathwayGO:00071798.2COL3A1, SMAD3, TGFBR1, TGFBR2
23wound healingGO:00420608.0COL3A1, SMAD3, TGFBR1, TGFBR2

Molecular functions related to Thoracic Aortic Aneurysms and Aortic Dissections according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:00052019.9COL3A1, FBN1
2transforming growth factor beta-activated receptor activityGO:00050249.7TGFBR1, TGFBR2
3transmembrane receptor protein serine/threonine kinase activityGO:00046759.7TGFBR1, TGFBR2
4receptor signaling protein serine/threonine kinase activityGO:00047029.7TGFBR1, TGFBR2
5transforming growth factor beta bindingGO:00504319.6TGFBR1, TGFBR2
6SMAD bindingGO:00463328.3COL3A1, SMAD3, TGFBR1, TGFBR2
7ATP bindingGO:00055247.8ACTA2, MYH11, MYLK, TGFBR1, TGFBR2

Sources for Thoracic Aortic Aneurysms and Aortic Dissections

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet