MCID: THR027
MIFTS: 41

Thoracic Aortic Aneurysms and Aortic Dissections malady

Category: Genetic diseases (common)

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 prkg1-related thoracic aortic aneurysms and aortic dissections and acta2-related thoracic aortic aneurysms and aortic dissections. An important gene associated with Thoracic Aortic Aneurysms and Aortic Dissections is FBN1 (Fibrillin 1), and among its related pathways are ALK1 signaling events and Cell adhesion_Plasmin signaling. Affiliated tissues include endothelial, testes and lung, and related mouse phenotypes are respiratory system and integument.

GeneReviews summary for NBK1120

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 all 34)
idRelated DiseaseScoreTop Affiliating Genes
1prkg1-related thoracic aortic aneurysms and aortic dissections12.4
2acta2-related thoracic aortic aneurysms and aortic dissections12.4
3fbn1-related thoracic aortic aneurysms and aortic dissections12.4
4mfap5-related thoracic aortic aneurysms and aortic dissections12.4
5myh11-related thoracic aortic aneurysms and aortic dissections12.4
6mylk-related thoracic aortic aneurysms and aortic dissections12.4
7smad3-related thoracic aortic aneurysms and aortic dissections12.4
8tgfbr1-related thoracic aortic aneurysms and aortic dissections12.4
9tgfbr2-related thoracic aortic aneurysms and aortic dissections12.4
10familial thoracic aortic aneurysm and dissection11.5
11aortic aneurysm, familial thoracic 410.8
12thoracic aortic aneurysm10.4
13aortic aneurysm10.4
14aneurysm10.4
15trochlear nerve neoplasm10.2MYH11, TGFBR2
16trigeminal nerve disease10.2FBN1, TGFBR2
17extrapyramidal and movement disease10.0MYH11, TGFBR2
18pneumonia10.0
19acute generalized exanthematous pustulosis10.0TGFBR1, TGFBR2
20elastoderma10.0TGFBR1, TGFBR2
21familial renal oncocytoma9.9TGFBR1, TGFBR2
22sezary's disease9.9COL3A1, FBN1
23diabetic neuropathy9.9TGFBR1, TGFBR2
24malignant growth hormone secreting neoplasm of pituitary9.8TGFBR1, TGFBR2
25familial tumoral calcinosis9.6MYH11, SMAD3, TGFBR1
26adenosine monophosphate deaminase deficiency erythrocyte type9.5SMAD3, TGFBR1, TGFBR2
27leydig cell tumor9.4MYH11, MYLK
28ectopia lentis, familial9.3ACTA2, FBN1, TGFBR1, TGFBR2
29urinary tract obstruction9.0ACTA2, FBN1, MYH11, TGFBR1, TGFBR2
30yellow nail syndrome8.9ACTA2, FBN1, SMAD3, TGFBR1, TGFBR2
31angiomatosis7.5ACTA2, COL3A1, MYH11, MYLK, SMAD3, TGFBR1
32splenic artery aneurysm7.2ACTA2, COL3A1, FBN1, MYH11, MYLK, SMAD3
33congenital myasthenic syndrome7.2ACTA2, COL3A1, FBN1, MYH11, MYLK, SMAD3
34tubulinopathies7.2ACTA2, COL3A1, FBN1, MYH11, MYLK, SMAD3

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):

(show all 20)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
AcetazolamideapprovedPhase 46759-66-51986
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
2
DexmedetomidineapprovedPhase 4470113775-47-668602, 5311068, 56032
Synonyms:
(+)-4-((S)-alpha,2,3-Trimethylbenzyl)imidazole
(+)-4-((S)-alpha,2,3-trimethylbenzyl)imidazole
(+)-medetomidine
(S)-medetomidine
113775-47-6
4-[(1S)-1-(2,3-Dimethylphenyl)ethyl]-1H-imidazole
4-[(1S)-1-(2,3-dimethylphenyl)ethyl]-1H-imidazole
5-[(1S)-1-(2,3-dimethylphenyl)ethyl]-1H-imidazole
AC1NSJXT
C07450
CHEBI:4466
CHEMBL778
CID5311068
D00514
DEXMEDETOMIDINE
Dexdor (T)
 
Dexmedetomidin
Dexmedetomidina
Dexmedetomidine
Dexmedetomidine (USAN/INN)
Dexmedetomidine Hydrochloride
Dexmedetomidinum
Dexmédétomidine
MPV 1440
MPV-1440
Medetomidina [Spanish]
Medetomidine
Medetomidinum [Latin]
NCGC00025347-01
PRECEDEX
Precedex
Precedex (TN)
Tocris-2023
ZINC04632106
3Antigen-Antibody ComplexPhase 47
4diureticsPhase 41194
5Natriuretic AgentsPhase 41403
6Carbonic Anhydrase InhibitorsPhase 4153
7AnticonvulsantsPhase 42249
8Central Nervous System DepressantsPhase 410016
9Hypnotics and SedativesPhase 42032
10Peripheral Nervous System AgentsPhase 418510
11Neurotransmitter AgentsPhase 414795
12AnestheticsPhase 47385
13Adrenergic alpha-AgonistsPhase 41300
14Adrenergic AgentsPhase 44204
15Analgesics, Non-NarcoticPhase 45184
16Adrenergic AgonistsPhase 42331
17Adrenergic alpha-2 Receptor AgonistsPhase 4790
18AnalgesicsPhase 49358
19
Warfarinapproved42281-81-26691, 54678486
Synonyms:
(-)-Warfarin
(S)-4-hydroxy-3-(3-oxo-1-phenylbutyl)-2-benzopyrone
(S)-Warfarin
(phenyl-1 acetyl-2 ethyl) 3-hydroxy-4 coumarin
(phenyl-1 acetyl-2 ethyl) 3-hydroxy-4 coumarine
1-(4'-Hydroxy-3'-coumarinyl)-1-phenyl-3-butanone
200 Coumarin
200 coumarin
3-(1'-Phenyl-2'-acetylethyl)-4-hydroxycoumarin
3-(Acetonylbenzyl)-4-hydroxycoumarin
3-(alpha-Acetonylbenzyl)-4-hydroxycoumarin
3-(alpha-Phenyl-beta-acetylaethyl)-4-hydroxycumarin
3-(alpha-Phenyl-beta-acetylethyl)-4-hydroxycoumarin
4-Hydroxy-3- (3-oxo-1-fenyl-butyl) cumarine
4-Hydroxy-3- (3-oxo-1-phenyl-butyl)-cumarin
4-Hydroxy-3-(3-oxo-1-fenyl-butyl) cumarine
4-Hydroxy-3-(3-oxo-1-phenyl-butyl)-cumarin
4-Hydroxy-3-(3-oxo-1-phenylbutyl)-2H-1-benzopyran-2-one
4-Hydroxy-3-(3-oxo-1-phenylbutyl)-2H-chromen-2-one
4-Hydroxy-3-(3-oxo-1-phenylbutyl)coumarin
4-Idrossi-3- (3-oxo-)-fenil-butil)-cumarine
4-Idrossi-3-(3-oxo-)-fenil-butil)-cumarine
4-Idrossi-3-(3-oxo-1-fenil-butil)-cumarine
45706_FLUKA
45706_RIEDEL
4oh-coumarin deriv.
5543-56-6
5543-57-7
81-81-2
A2250_FLUKA
A2250_SIGMA
AC-15978
AC1L1N37
AC1Q6AN3
AR-1E2310
Arab Rat Death
Arab rat death
Arab rat deth
Athrombin
Athrombin-K
Athrombin-k
Athrombine-K
Athrombine-k
BRD-A24514565-001-02-2
BRD-A24514565-236-01-6
BRN 1293536
BSPBio_002026
Bio-0586
Brumolin
C01541
C19H16O4
CBDivE_002127
CBDivE_013236
CBKinase1_000192
CBKinase1_012592
CHEBI:10033
CHEMBL1464
CID6691
CO-Rax
Caswell No. 903
Choice
Choice (TN)
Co-Rax
Co-rax
Compound 42
Coumadin
Coumadin Tabs
Coumafen
Coumafene
Coumafene [French]
Coumaphen
Coumaphene
Coumarins
Coumefene
Cov-R-Tox
Cov-R-tox
D-Con
D08682
DB00682
DL-3-(alpha-acetonylbenzyl)-4-hydroxycoumarin
Dethmor
Dethnel
Dicusat E
Dicusat e
DivK1c_000444
EINECS 201-377-6
EINECS 226-907-3
EPA Pesticide Chemical Code 086002
Eastern states duocide
Fasco fascrat powder
Frass-Ratron
Frass-ratron
HMS1921K07
HMS2092C20
HMS501G06
HSDB 1786
I14-0958
IDI1_000444
Jantoven
KBio1_000444
KBio2_000674
KBio2_003242
KBio2_005810
KBio3_001526
KBioGR_000901
KBioSS_000674
Killgerm sewarin p
Kumader
Kumadu
Kumatox
Kypfarin
LS-55083
Latka 42
Latka 42 [Czech]
Liqua-tox
MLS001304042
Maag Rattentod Cum
Maag rattentod cum
Mar-Frin
Mar-frin
Marevan
Martin'S mar-frin
Martin's mar-frin
 
Maveran
MolPort-001-787-822
Mouse pak
NCGC00094810-01
NCGC00094810-02
NCGC00159398-03
NCGC00178855-01
NINDS_000444
NSC 59813
NSC59813
PS104_SUPELCO
Panwarfin
Place-Pax
Place-pax
Prothromadin
RAX
RCR grey squirrel killer concentrate
RCRA waste no. P001
Rat & mice bait
Rat and mice bait
Rat-B-gon
Rat-Gard
Rat-Kill
Rat-Mix
Rat-O-cide #2
Rat-O-cide no. 2
Rat-Ola
Rat-Trol
Rat-a-way
Rat-alpha-way
Rat-b-gon
Rat-beta-gon
Rat-gard
Rat-kill
Rat-mix
Rat-o-cide #2
Rat-ola
Rat-trol
Ratorex
Ratox
Ratoxin
Ratron
Ratron G
Ratron g
Rats-no-more
Ratten-Koederrohr
Ratten-koederrohr
Rattenstreupulver Neu Schacht
Rattenstreupulver neu schacht
Rattenstreupulver new schacht
Rattentraenke
Rattunal
Rcra waste number P001
Ro-Deth
Ro-deth
Rodafarin
Rodafarin C
Rodafarin c
Rodex
Rodex blox
Rosex
Rough & ready mouse mix
Rough and ready mouse mix
SMP1_000316
SMR000718754
SPBio_000870
SPECTRUM1500613
STK364490
Sakarat
Sewarin
Sofarin
Solfarin
Sorexa Plus
Sorexa plus
Spectrum2_000935
Spectrum3_000583
Spectrum4_000381
Spectrum5_001751
Spectrum_000194
Spray-trol brand roden-trol
Temus W
Temus w
Tintorane
Tox-Hid
Tox-hid
Twin light rat away
UNII-5Q7ZVV76EI
Vampirinip II
Vampirinip III
Vampirinip iii
W.A.R.F. 42
WARF compound 42
WLN: T66 BOVJ DYR&1V1 EQ
Waran
Warf 10
Warf 42
Warfarat
Warfarin (INN)
Warfarin (and salts of)
Warfarin Plus
Warfarin Q
Warfarin Sodium
Warfarin [BSI:ISO]
Warfarin [INN:BAN]
Warfarin plus
Warfarin plus [discontinued]
Warfarin sodium
Warfarin titrated to an INR of 2.5-3.0
Warfarin(R)
Warfarina
Warfarina [INN-Spanish]
Warfarine
Warfarine [INN-French]
Warfarine [ISO-French]
Warfarinum
Warfarinum [INN-Latin]
Warficide
Warfilone
Zoocoumarin
Zoocoumarin [Netherlands and USSR]
Zoocoumarin [Russian]
delta-Con
nchembio.307-comp19
rac-Warfarin
warfarin
20
Ethylene2774-85-16325
Synonyms:
Acetene
Athylen
Bicarburretted hydrogen
Elayl
Ethene
Ethene (9CI)
Ethene, 9CI
Ethylene (8CI)
 
Ethylene, compressed [UN1962] [Flammable gas]
Ethylene, pure
Ethylene-CMPD
Etileno
Liquid ethyene
Liquid ethylene
Olefiant gas
Plastipore
Polyethylene as med mol. WT.

Interventional clinical trials:

(show all 39)
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
18Evaluation of Valiant Mona LSARecruitingNCT02365467
19GORE® TAG® Thoracic Endoprosthesis French Mandatory RegistryRecruitingNCT02266342
20Genetic Risks for Bicuspid Aortic Valve DiseaseRecruitingNCT01823432
21Effective Treatments for Thoracic Aortic Aneurysms (ETTAA Study): A Prospective Cohort StudyRecruitingNCT02010892
22Clinical Study of Thoracic Aortic Aneurysm ExclusionRecruitingNCT00549315
23Screening for Thoracic Aortic Aneurysm Among a Cohort of Patients With a Degenerative Abdominal Aortic AneurysmRecruitingNCT01599533
24Endovascular Aortic Repair for Aortic DissectionRecruitingNCT01505309
25Feasibility of Endovascular Repair Of Ascending Aortic PathologiesRecruitingNCT02201589
26Brazilian Registry of Acute SItuations in Emergency Department - BRASIED RegistryRecruitingNCT02753023
27International Bicuspid Aortic Valve Consortium (BAVCon)RecruitingNCT01980797
28Risk of Rupture of Aneurysms of the Thoracic Ascending Aorta (ATA) From the Dynamic ImagingRecruitingNCT02538822
29Exercise 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
30Development of a Blood Test for Marfan SyndromeRecruitingNCT02148900
31Prospective Follow-up Study of the Aortic Diameter in Patients With Giant Cell ArteritisRecruitingNCT01588483
32The Epidemiology of Aortic Diameter in ChinaRecruitingNCT00820378
33National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular ConditionsActive, not recruitingNCT01322165
34Valiant Thoracic Stent Graft With the Captivia Delivery System in the Treatment of Descending Thoracic Aortic Diseases (VALIANT CAPTIVIA France)Active, not recruitingNCT01775046
35Study 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
36Thoraflex™ Hybrid IDE StudyNot yet recruitingNCT02724072
37Evaluation of the GORE® TAG® Thoracic Branch Endoprosthesis (TBE Device) in the Treatment of Lesions of the Aortic Arch and Descending Thoracic Aorta (Zone 0/1)Not yet recruitingNCT02777528
38Evaluation of the GORE® TAG® Thoracic Branch Endoprosthesis (TBE Device) in the Treatment of Lesions of the Aortic Arch and Descending Thoracic Aorta (Zone 2)Not yet recruitingNCT02777593
39VALIANT 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 TGFBR2

Anatomical Context for Thoracic Aortic Aneurysms and Aortic Dissections

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MalaCards organs/tissues related to Thoracic Aortic Aneurysms and Aortic Dissections:

33
Endothelial, Testes, Lung, Pituitary

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 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.4COL3A1, FBN1, MYH11, TGFBR1, TGFBR2
2MP:00107718.3COL3A1, FBN1, MYH11, SMAD3, TGFBR1
3MP:00053847.7COL3A1, FBN1, MYH11, SMAD3, TGFBR1, TGFBR2
4MP:00053817.5COL3A1, MYH11, MYLK, SMAD3, TGFBR1, TGFBR2
5MP:00053907.3FBN1, MYLK, SMAD3, TGFBR1, TGFBR2
6MP:00053697.3ACTA2, COL3A1, FBN1, MYH11, MYLK, TGFBR1
7MP:00053877.1COL3A1, FBN1, MYLK, SMAD3, TGFBR1, TGFBR2
8MP:00053767.1COL3A1, FBN1, MYH11, MYLK, SMAD3, TGFBR1
9MP:00107687.1COL3A1, FBN1, MYH11, MYLK, SMAD3, TGFBR1
10MP:00053787.0COL3A1, FBN1, MYH11, MYLK, SMAD3, TGFBR1
11MP:00053856.6ACTA2, 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 183)
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 variantPathogenicrs137854466GRCh37Chr 15, 48703477: 48703477
15FBN1NM_000138.4(FBN1): c.364C> T (p.Arg122Cys)single nucleotide variantPathogenicrs137854467GRCh37Chr 15, 48892414: 48892414
16FBN1NM_000138.4(FBN1): c.3509G> A (p.Arg1170His)single nucleotide variantPathogenicrs137854475GRCh37Chr 15, 48779352: 48779352
17FBN1NM_000138.4(FBN1): c.1585C> T (p.Arg529Ter)single nucleotide variantPathogenicrs137854476GRCh37Chr 15, 48805749: 48805749
18FBN1NM_000138.4(FBN1): c.3217G> A (p.Glu1073Lys)single nucleotide variantPathogenicrs137854478GRCh37Chr 15, 48780430: 48780430
19FBN1NM_000138.4(FBN1): c.718C> T (p.Arg240Cys)single nucleotide variantPathogenicrs137854480GRCh37Chr 15, 48829826: 48829826
20FBN1NM_000138.4(FBN1): c.1453C> T (p.Arg485Cys)single nucleotide variantPathogenicrs137854485GRCh37Chr 15, 48807599: 48807599
21COL3A1NM_000090.3(COL3A1): c.1744G> A (p.Gly582Ser)single nucleotide variantPathogenicrs121912923GRCh37Chr 2, 189861205: 189861205
22FBN1NM_000138.4(FBN1): c.3037G> A (p.Gly1013Arg)single nucleotide variantPathogenicrs140593GRCh37Chr 15, 48782093: 48782093
23ACTA2NM_001613.2(ACTA2): c.445C> T (p.Arg149Cys)single nucleotide variantPathogenicrs121434526GRCh37Chr 10, 90701551: 90701551
24NM_001613.2(ACTA2): c.773G> A (p.Arg258His)single nucleotide variantPathogenicrs121434527GRCh37Chr 10, 90699299: 90699299
25ACTA2NM_001613.2(ACTA2): c.1A> G (p.Met1Val)single nucleotide variantPathogenicrs794728019GRCh37Chr 10, 90708687: 90708687
26ACTA2NM_001613.2(ACTA2): c.116G> A (p.Arg39His)single nucleotide variantPathogenicrs794728021GRCh37Chr 10, 90708572: 90708572
27ACTA2NM_001613.2(ACTA2): c.353G> A (p.Arg118Gln)single nucleotide variantPathogenicrs112602953GRCh38Chr 10, 88943813: 88943813
28ACTA2NM_001613.2(ACTA2): c.478G> A (p.Gly160Ser)single nucleotide variantPathogenicrs794728026GRCh38Chr 10, 88941367: 88941367
29NM_001613.2(ACTA2): c.809G> A (p.Gly270Glu)single nucleotide variantPathogenicrs794728029GRCh38Chr 10, 88938242: 88938242
30COL3A1NM_000090.3(COL3A1): c.1241G> T (p.Gly414Val)single nucleotide variantPathogenicrs794728044GRCh37Chr 2, 189859006: 189859006
31COL3A1NM_000090.3(COL3A1): c.2338-2A> Gsingle nucleotide variantPathogenicrs794728050GRCh37Chr 2, 189866260: 189866260
32COL3A1NM_000090.3(COL3A1): c.4072C> T (p.Arg1358Ter)single nucleotide variantPathogenicrs794728057GRCh37Chr 2, 189875434: 189875434
33COL3A1NM_000090.3(COL3A1): c.4180_4189delGGGTCAAATG (p.Gly1394Lysfs)deletionPathogenicrs794728059GRCh37Chr 2, 189875542: 189875551
34COL3A1NM_000090.3(COL3A1): c.4087C> T (p.Arg1363Ter)single nucleotide variantPathogenicrs794728060GRCh37Chr 2, 189875449: 189875449
35FBN1NM_000138.4(FBN1): c.539-1G> Asingle nucleotide variantPathogenicrs794728161GRCh38Chr 15, 48537809: 48537809
36FBN1NM_000138.4(FBN1): c.640G> A (p.Gly214Ser)single nucleotide variantPathogenicrs794728162GRCh38Chr 15, 48537707: 48537707
37FBN1NM_000138.4(FBN1): c.813C> A (p.Cys271Ter)single nucleotide variantPathogenicrs765692335GRCh38Chr 15, 48534129: 48534129
38FBN1NM_000138.4(FBN1): c.1090C> T (p.Arg364Ter)single nucleotide variantPathogenicrs794728165GRCh38Chr 15, 48520716: 48520716
39FBN1NM_000138.4(FBN1): c.1148-2A> Csingle nucleotide variantPathogenicrs397515756GRCh37Chr 15, 48808561: 48808561
40FBN1NM_000138.4(FBN1): c.1421G> A (p.Cys474Tyr)single nucleotide variantPathogenicrs794728166GRCh38Chr 15, 48515434: 48515434
41FBN1NM_000138.4(FBN1): c.1468+2T> Csingle nucleotide variantPathogenicrs794728167GRCh38Chr 15, 48515385: 48515385
42FBN1NM_000138.4(FBN1): c.1583G> A (p.Cys528Tyr)single nucleotide variantPathogenicrs794728170GRCh38Chr 15, 48513554: 48513554
43FBN1NM_000138.4(FBN1): c.1664G> T (p.Cys555Phe)single nucleotide variantPathogenicrs794728172GRCh38Chr 15, 48510094: 48510094
44FBN1NM_000138.4(FBN1): c.1693C> T (p.Arg565Ter)single nucleotide variantPathogenicrs794728173GRCh38Chr 15, 48510065: 48510065
45FBN1NM_000138.4(FBN1): c.1726T> G (p.Cys576Gly)single nucleotide variantPathogenicrs794728174GRCh37Chr 15, 48800890: 48800890
46FBN1NM_000138.4(FBN1): c.1759T> G (p.Cys587Gly)single nucleotide variantPathogenicrs794728175GRCh38Chr 15, 48508660: 48508660
47FBN1NM_000138.4(FBN1): c.1817C> A (p.Ser606Ter)single nucleotide variantPathogenicrs794728176GRCh38Chr 15, 48508602: 48508602
48FBN1NM_000138.4(FBN1): c.2055C> A (p.Cys685Ter)single nucleotide variantPathogenicrs140603GRCh38Chr 15, 48503845: 48503845
49FBN1NM_000138.4(FBN1): c.1889A> T (p.Asn630Ile)single nucleotide variantPathogenicrs794728178GRCh38Chr 15, 48505096: 48505096
50FBN1NM_000138.4(FBN1): c.1890C> A (p.Asn630Lys)single nucleotide variantPathogenicrs794728179GRCh38Chr 15, 48505095: 48505095
51FBN1NM_000138.4(FBN1): c.2180G> A (p.Cys727Tyr)single nucleotide variantPathogenicrs794728186GRCh38Chr 15, 48497379: 48497379
52FBN1NM_000138.4(FBN1): c.2201G> T (p.Cys734Phe)single nucleotide variantPathogenicrs794728187GRCh38Chr 15, 48497358: 48497358
53FBN1NM_000138.4(FBN1): c.2306G> A (p.Cys769Tyr)single nucleotide variantPathogenicrs794728190GRCh38Chr 15, 48496213: 48496213
54FBN1NM_000138.4(FBN1): c.2539+1G> Asingle nucleotide variantPathogenicrs794728192GRCh38Chr 15, 48495468: 48495468
55FBN1NM_000138.4(FBN1): c.2638G> A (p.Gly880Ser)single nucleotide variantPathogenicrs794728194GRCh38Chr 15, 48495162: 48495162
56FBN1NM_000138.4(FBN1): c.2645C> T (p.Ala882Val)single nucleotide variantPathogenicrs794728195GRCh38Chr 15, 48495155: 48495155
57FBN1NM_000138.4(FBN1): c.2671C> T (p.Gln891Ter)single nucleotide variantPathogenicrs794728196GRCh38Chr 15, 48495129: 48495129
58FBN1NM_000138.4(FBN1): c.2806C> T (p.Gln936Ter)single nucleotide variantPathogenicrs794728197GRCh38Chr 15, 48492509: 48492509
59FBN1NM_000138.4(FBN1): c.2861G> A (p.Arg954His)single nucleotide variantLikely pathogenic, Pathogenicrs794728198GRCh38Chr 15, 48490072: 48490072
60FBN1NM_000138.4(FBN1): c.2926C> T (p.Arg976Cys)single nucleotide variantPathogenicrs548296552GRCh38Chr 15, 48490007: 48490007
61FBN1NM_000138.4(FBN1): c.2953G> A (p.Gly985Arg)single nucleotide variantPathogenicrs794728199GRCh38Chr 15, 48489980: 48489980
62FBN1NM_000138.4(FBN1): c.3173G> T (p.Gly1058Val)single nucleotide variantPathogenicrs794728202GRCh37Chr 15, 48780600: 48780600
63FBN1NM_000138.4(FBN1): c.3344A> G (p.Asp1115Gly)single nucleotide variantPathogenicrs794728203GRCh38Chr 15, 48487431: 48487431
64FBN1NM_000138.4(FBN1): c.3463G> A (p.Asp1155Asn)single nucleotide variantPathogenicrs794728204GRCh38Chr 15, 48487312: 48487312
65FBN1NM_000138.4(FBN1): c.3513C> A (p.Cys1171Ter)single nucleotide variantPathogenicrs775417975GRCh38Chr 15, 48487151: 48487151
66FBN1NM_000138.4(FBN1): c.3712G> A (p.Asp1238Asn)single nucleotide variantPathogenicrs794728208GRCh38Chr 15, 48485374: 48485374
67FBN1NM_000138.4(FBN1): c.3712+1G> Asingle nucleotide variantPathogenicrs794728209GRCh38Chr 15, 48485373: 48485373
68FBN1NM_000138.4(FBN1): c.3839-1G> Tsingle nucleotide variantPathogenicrs794728211GRCh38Chr 15, 48481781: 48481781
69FBN1NM_000138.4(FBN1): c.3964+1G> Asingle nucleotide variantPathogenicrs794728212GRCh38Chr 15, 48481654: 48481654
70FBN1NM_000138.4(FBN1): c.164+1G> Asingle nucleotide variantPathogenicrs794728213GRCh38Chr 15, 48644605: 48644605
71FBN1NM_000138.4(FBN1): c.4050C> A (p.Cys1350Ter)single nucleotide variantPathogenicrs201058219GRCh37Chr 15, 48766762: 48766762
72FBN1NM_000138.4(FBN1): c.4062G> A (p.Trp1354Ter)single nucleotide variantPathogenicrs794728215GRCh37Chr 15, 48766750: 48766750
73FBN1NM_000138.4(FBN1): c.4337-2A> Gsingle nucleotide variantPathogenicrs794728216GRCh38Chr 15, 48470758: 48470758
74FBN1NM_000138.4(FBN1): c.4096G> A (p.Glu1366Lys)single nucleotide variantPathogenicrs763449629GRCh37Chr 15, 48766566: 48766566
75FBN1NM_000138.4(FBN1): c.4146T> A (p.Asn1382Lys)single nucleotide variantPathogenicrs794728218GRCh37Chr 15, 48766516: 48766516
76FBN1NM_000138.4(FBN1): c.4214T> G (p.Leu1405Arg)single nucleotide variantPathogenicrs767606368GRCh38Chr 15, 48472673: 48472673
77FBN1NM_000138.4(FBN1): c.4621C> T (p.Arg1541Ter)single nucleotide variantPathogenicrs794728228GRCh38Chr 15, 48468064: 48468064
78FBN1NM_000138.4(FBN1): c.4888C> T (p.Gln1630Ter)single nucleotide variantPathogenicrs794728231GRCh38Chr 15, 48465622: 48465622
79FBN1NM_000138.4(FBN1): c.5021G> T (p.Cys1674Phe)single nucleotide variantPathogenicrs794728233GRCh38Chr 15, 48463943: 48463943
80FBN1NM_000138.4(FBN1): c.5097C> G (p.Tyr1699Ter)single nucleotide variantPathogenicrs368979510GRCh38Chr 15, 48463209: 48463209
81FBN1NM_000138.4(FBN1): c.5208T> A (p.Cys1736Ter)single nucleotide variantPathogenicrs794728234GRCh38Chr 15, 48463098: 48463098
82FBN1NM_000138.4(FBN1): c.5197T> G (p.Cys1733Gly)single nucleotide variantPathogenicrs794728235GRCh38Chr 15, 48463109: 48463109
83FBN1NM_000138.4(FBN1): c.5700T> A (p.Cys1900Ter)single nucleotide variantPathogenicrs794728236GRCh38Chr 15, 48446794: 48446794
84FBN1NM_000138.4(FBN1): c.5431G> A (p.Glu1811Lys)single nucleotide variantPathogenicrs761857514GRCh38Chr 15, 48452676: 48452676
85FBN1NM_000138.4(FBN1): c.5513G> A (p.Gly1838Asp)single nucleotide variantPathogenicrs78970689GRCh37Chr 15, 48744791: 48744791
86FBN1NM_000138.4(FBN1): c.5699G> A (p.Cys1900Tyr)single nucleotide variantPathogenicrs794728237GRCh37Chr 15, 48738992: 48738992
87FBN1NM_000138.4(FBN1): c.5746T> C (p.Cys1916Arg)single nucleotide variantPathogenicrs794728238GRCh38Chr 15, 48446748: 48446748
88FBN1NM_000138.4(FBN1): c.5801G> A (p.Cys1934Tyr)single nucleotide variantPathogenicrs794728240GRCh38Chr 15, 48445492: 48445492
89FBN1NM_000138.4(FBN1): c.6164-2A> Tsingle nucleotide variantPathogenicrs794728244GRCh38Chr 15, 48437919: 48437919
90FBN1NM_000138.4(FBN1): c.6169C> T (p.Arg2057Ter)single nucleotide variantPathogenicrs763091520GRCh38Chr 15, 48437912: 48437912
91FBN1NM_000138.4(FBN1): c.6630T> A (p.Cys2210Ter)single nucleotide variantPathogenicrs397515836GRCh38Chr 15, 48432975: 48432975
92FBN1NM_000138.4(FBN1): c.6251G> T (p.Cys2084Phe)single nucleotide variantPathogenicrs794728245GRCh38Chr 15, 48437830: 48437830
93FBN1NM_000138.4(FBN1): c.6274T> C (p.Trp2092Arg)single nucleotide variantPathogenicrs794728246GRCh38Chr 15, 48437807: 48437807
94FBN1NM_000138.4(FBN1): c.6418G> A (p.Gly2140Arg)single nucleotide variantPathogenicrs794728249GRCh38Chr 15, 48437039: 48437039
95FBN1NM_000138.4(FBN1): c.6448C> T (p.Arg2150Cys)single nucleotide variantPathogenicrs76702162GRCh37Chr 15, 48729206: 48729206
96FBN1NM_000138.4(FBN1): c.6449G> T (p.Arg2150Leu)single nucleotide variantPathogenicrs794728250GRCh38Chr 15, 48437008: 48437008
97FBN1NM_000138.4(FBN1): c.6453C> G (p.Cys2151Trp)single nucleotide variantPathogenicrs794728251GRCh38Chr 15, 48437004: 48437004
98FBN1NM_000138.4(FBN1): c.6496G> A (p.Asp2166Asn)single nucleotide variantPathogenicrs794728252GRCh37Chr 15, 48729158: 48729158
99FBN1NM_000138.4(FBN1): c.6496G> C (p.Asp2166His)single nucleotide variantPathogenicrs794728252GRCh37Chr 15, 48729158: 48729158
100FBN1NM_000138.4(FBN1): c.6752G> A (p.Cys2251Tyr)single nucleotide variantPathogenicrs794728256GRCh37Chr 15, 48722987: 48722987
101FBN1NM_000138.4(FBN1): c.6871G> A (p.Asp2291Asn)single nucleotide variantPathogenicrs794728257GRCh37Chr 15, 48722868: 48722868
102FBN1NM_000138.4(FBN1): c.6871+1G> Tsingle nucleotide variantPathogenicrs794728258GRCh38Chr 15, 48430670: 48430670
103FBN1NM_000138.4(FBN1): c.7003C> T (p.Arg2335Trp)single nucleotide variantPathogenicrs794728262GRCh38Chr 15, 48427768: 48427768
104FBN1NM_000138.4(FBN1): c.7111T> C (p.Trp2371Arg)single nucleotide variantPathogenicrs794728264GRCh37Chr 15, 48719857: 48719857
105FBN1NM_000138.4(FBN1): c.7125T> A (p.Cys2375Ter)single nucleotide variantPathogenicrs794728265GRCh38Chr 15, 48427646: 48427646
106FBN1NM_000138.4(FBN1): c.7205-1G> Asingle nucleotide variantPathogenicrs794728266GRCh38Chr 15, 48425865: 48425865
107FBN1NM_000138.4(FBN1): c.7267G> T (p.Gly2423Ter)single nucleotide variantPathogenicrs794728271GRCh38Chr 15, 48425802: 48425802
108FBN1NM_000138.4(FBN1): c.7531T> C (p.Cys2511Arg)single nucleotide variantPathogenicrs794728272GRCh38Chr 15, 48421991: 48421991
109FBN1NM_000138.4(FBN1): c.7604G> A (p.Cys2535Tyr)single nucleotide variantPathogenicrs794728275GRCh38Chr 15, 48421653: 48421653
110FBN1NM_000138.4(FBN1): c.7624C> T (p.Gln2542Ter)single nucleotide variantPathogenicrs794728276GRCh38Chr 15, 48421633: 48421633
111FBN1NM_000138.4(FBN1): c.7775G> A (p.Cys2592Tyr)single nucleotide variantPathogenicrs794728277GRCh38Chr 15, 48420731: 48420731
112FBN1NM_000138.4(FBN1): c.7916A> G (p.Tyr2639Cys)single nucleotide variantPathogenicrs794728280GRCh38Chr 15, 48415671: 48415671
113FBN1NM_000138.4(FBN1): c.8005G> T (p.Gly2669Cys)single nucleotide variantPathogenicrs794728281GRCh37Chr 15, 48707779: 48707779
114FBN1NM_000138.4(FBN1): c.8010C> G (p.Tyr2670Ter)single nucleotide variantPathogenicrs794728282GRCh38Chr 15, 48415577: 48415577
115FBN1NM_000138.4(FBN1): c.8038C> T (p.Arg2680Cys)single nucleotide variantPathogenicrs794728283GRCh38Chr 15, 48415549: 48415549
116FBN1NM_000138.4(FBN1): c.8226+5G> Asingle nucleotide variantPathogenicrs193922243GRCh37Chr 15, 48704761: 48704761
117FBN1NM_000138.4(FBN1): c.8599C> T (p.Gln2867Ter)single nucleotide variantPathogenicrs794728288GRCh37Chr 15, 48703204: 48703204
118FBN1NM_000138.4(FBN1): c.212G> C (p.Trp71Ser)single nucleotide variantPathogenicrs794728289GRCh37Chr 15, 48905242: 48905242
119FBN1NM_000138.4(FBN1): c.266G> A (p.Cys89Tyr)single nucleotide variantPathogenicrs112660651GRCh38Chr 15, 48610808: 48610808
120FBN1NM_000138.4(FBN1): c.1191delG (p.Arg398Aspfs)deletionPathogenicrs794728295GRCh38Chr 15, 48516319: 48516319
121FBN1NM_000138.4(FBN1): c.1624_1634delAATAATGGACG (p.Asn542Leufs)deletionPathogenicrs794728296GRCh38Chr 15, 48510124: 48510134
122FBN1NM_000138.4(FBN1): c.1679dupG (p.Phe561Leufs)duplicationPathogenicrs794728297GRCh38Chr 15, 48510079: 48510079
123FBN1NM_000138.4(FBN1): c.2180dupG (p.Cys727Trpfs)duplicationPathogenicrs794728299GRCh38Chr 15, 48497379: 48497379
124FBN1NM_000138.4(FBN1): c.2262_2263delTG (p.Tyr754Terfs)deletionPathogenicrs794728300GRCh38Chr 15, 48497296: 48497297
125FBN1NM_000138.4(FBN1): c.2569_2570delGT (p.Val857Hisfs)deletionPathogenicrs794728301GRCh38Chr 15, 48495230: 48495231
126FBN1NM_000138.4(FBN1): c.2601dupT (p.Gly868Trpfs)duplicationPathogenicrs794728302GRCh38Chr 15, 48495199: 48495199
127FBN1NM_000138.4(FBN1): c.2701delT (p.Ser901Glnfs)deletionPathogenicrs794728303GRCh37Chr 15, 48786428: 48786428
128FBN1NM_000138.4(FBN1): c.2712_2716delAGGAA (p.Lys904Asnfs)deletionPathogenicrs794728304GRCh38Chr 15, 48494216: 48494220
129FBN1NM_000138.4(FBN1): c.2786_2789dupCTAG (p.Arg930Serfs)duplicationPathogenicrs794728305GRCh38Chr 15, 48492526: 48492529
130FBN1NM_000138.4(FBN1): c.3424_3427dupCCTG (p.Gly1143Alafs)duplicationPathogenicrs794728306GRCh37Chr 15, 48779545: 48779548
131FBN1NM_000138.4(FBN1): c.162delA (p.Gly55Aspfs)deletionPathogenicrs794728307GRCh38Chr 15, 48644608: 48644608
132FBN1NM_000138.4(FBN1): c.4405delC (p.Arg1469Alafs)deletionPathogenicrs794728308GRCh37Chr 15, 48762885: 48762885
133FBN1NM_000138.4(FBN1): c.4425delC (p.Tyr1476Thrfs)deletionPathogenicrs794728309GRCh38Chr 15, 48470668: 48470668
134FBN1NM_000138.4(FBN1): c.4429dupG (p.Glu1477Glyfs)duplicationPathogenicrs794728310GRCh38Chr 15, 48470664: 48470664
135FBN1NM_000138.4(FBN1): c.5817delG (p.Asn1940Ilefs)deletionPathogenicrs794728311GRCh38Chr 15, 48445476: 48445476
136FBN1NM_000138.4(FBN1): c.5893delG (p.Ala1965Leufs)deletionPathogenicrs794728312GRCh38Chr 15, 48445400: 48445400
137FBN1NM_000138.4(FBN1): c.5957dupC (p.Gly1987Argfs)duplicationPathogenicrs794728313GRCh38Chr 15, 48444621: 48444621
138FBN1NM_000138.4(FBN1): c.6129delG (p.Ser2045Profs)deletionPathogenicrs794728314GRCh38Chr 15, 48441755: 48441755
139FBN1NM_000138.4(FBN1): c.6163+2dupTduplicationPathogenicrs794728315GRCh38Chr 15, 48441719: 48441719
140FBN1NM_000138.4(FBN1): c.6406_6407dupGT (p.Cys2137Serfs)duplicationPathogenicrs794728317GRCh38Chr 15, 48437050: 48437051
141FBN1NM_000138.4(FBN1): c.6722_6725dupACCG (p.Arg2243Profs)duplicationPathogenicrs794728318GRCh38Chr 15, 48432880: 48432883
142FBN1NM_000138.4(FBN1): c.7039_7040delAT (p.Met2347Valfs)deletionPathogenicrs794728319GRCh38Chr 15, 48427731: 48427732
143FBN1NM_000138.4(FBN1): c.7599delT (p.Leu2534Cysfs)deletionPathogenicrs794728320GRCh38Chr 15, 48421658: 48421658
144FBN1NM_000138.4(FBN1): c.8154dupT (p.Lys2719Terfs)duplicationPathogenicrs794728321GRCh37Chr 15, 48704838: 48704838
145FBN1NM_000138.4(FBN1): c.2728+1G> Csingle nucleotide variantPathogenicrs794728322GRCh38Chr 15, 48494203: 48494203
146FBN1NM_000138.4(FBN1): c.8544delA (p.Lys2848Asnfs)deletionPathogenicrs794728323GRCh38Chr 15, 48411062: 48411062
147FBN1NM_000138.4(FBN1): c.225delT (p.Gly76Alafs)deletionPathogenicrs794728324GRCh38Chr 15, 48613032: 48613032
148FBN1NM_000138.4(FBN1): c.1147G> A (p.Glu383Lys)single nucleotide variantPathogenicrs794728325GRCh37Chr 15, 48812856: 48812856
149FBN1NM_000138.4(FBN1): c.1426T> G (p.Cys476Gly)single nucleotide variantPathogenicrs794728326GRCh38Chr 15, 48515429: 48515429
150FBN1NM_000138.4(FBN1): c.3668G> T (p.Cys1223Phe)single nucleotide variantPathogenicrs137854469GRCh37Chr 15, 48777615: 48777615
151FBN1NM_000138.4(FBN1): c.3974A> C (p.Glu1325Ala)single nucleotide variantPathogenicrs794728331GRCh38Chr 15, 48474641: 48474641
152FBN1NM_000138.4(FBN1): c.4930C> T (p.Arg1644Ter)single nucleotide variantPathogenicrs140630GRCh37Chr 15, 48757777: 48757777
153FBN1NM_000138.4(FBN1): c.5015G> A (p.Cys1672Tyr)single nucleotide variantPathogenicrs140627GRCh38Chr 15, 48463949: 48463949
154FBN1NM_000138.4(FBN1): c.5726T> C (p.Ile1909Thr)single nucleotide variantPathogenicrs794728333GRCh38Chr 15, 48446768: 48446768
155FBN1NM_000138.4(FBN1): c.6388G> A (p.Glu2130Lys)single nucleotide variantPathogenicrs794728334GRCh38Chr 15, 48437069: 48437069
156FBN1NM_000138.4(FBN1): c.6425G> A (p.Cys2142Tyr)single nucleotide variantPathogenicrs794728335GRCh38Chr 15, 48437032: 48437032
157FBN1NM_000138.4(FBN1): c.6496G> T (p.Asp2166Tyr)single nucleotide variantPathogenicrs794728252GRCh38Chr 15, 48436961: 48436961
158FBN1NM_000138.4(FBN1): c.1297_1300dupGAAT (p.Tyr434Terfs)duplicationPathogenicrs794728341GRCh38Chr 15, 48516210: 48516213
159FBN1NM_000138.4(FBN1): c.3401dupG (p.Ser1135Lysfs)duplicationPathogenicrs794728342GRCh37Chr 15, 48779571: 48779571
160FBN1NM_000138.4(FBN1): c.3773delC (p.Pro1258Leufs)deletionPathogenicrs794728343GRCh38Chr 15, 48483883: 48483883
161FBN1NM_000138.4(FBN1): c.8064delT (p.Gly2689Glufs)deletionPathogenicrs794728344GRCh37Chr 15, 48704928: 48704928
162NM_002474.2(MYH11): c.4578+2dupTduplicationPathogenicrs794728677GRCh37Chr 16, 15815277: 15815277
163ACTA2NM_001613.2(ACTA2): c.536G> A (p.Arg179His)single nucleotide variantPathogenicrs387906592GRCh37Chr 10, 90701066: 90701066
164FBN1NM_000138.4(FBN1): c.4786C> T (p.Arg1596Ter)single nucleotide variantPathogenicrs113871094GRCh37Chr 15, 48758017: 48758017
165FBN1NM_000138.4(FBN1): c.7806G> A (p.Trp2602Ter)single nucleotide variantLikely pathogenic, Pathogenicrs193922236GRCh37Chr 15, 48712897: 48712897
166FBN1NM_000138.4(FBN1): c.1468+5G> Asingle nucleotide variantPathogenicrs397515757GRCh37Chr 15, 48807579: 48807579
167FBN1NM_000138.4(FBN1): c.1546C> T (p.Arg516Ter)single nucleotide variantPathogenicrs113812345GRCh37Chr 15, 48805788: 48805788
168FBN1NM_000138.4(FBN1): c.247+1G> Asingle nucleotide variantPathogenicrs25404GRCh37Chr 15, 48905206: 48905206
169FBN1NM_000138.4(FBN1): c.4259G> A (p.Cys1420Tyr)single nucleotide variantLikely pathogenic, Pathogenicrs397515804GRCh37Chr 15, 48764825: 48764825
170FBN1NM_000138.4(FBN1): c.4270C> G (p.Pro1424Ala)single nucleotide variantPathogenicrs201273753GRCh37Chr 15, 48764814: 48764814
171FBN1NM_000138.4(FBN1): c.4615C> T (p.Arg1539Ter)single nucleotide variantPathogenicrs111231312GRCh37Chr 15, 48760267: 48760267
172FBN1NM_000138.4(FBN1): c.5368C> T (p.Arg1790Ter)single nucleotide variantPathogenicrs113249837GRCh37Chr 15, 48748888: 48748888
173FBN1NM_000138.4(FBN1): c.5504G> A (p.Cys1835Tyr)single nucleotide variantLikely pathogenic, Pathogenicrs111929350GRCh37Chr 15, 48744800: 48744800
174FBN1NM_000138.4(FBN1): c.5863C> T (p.Gln1955Ter)single nucleotide variantPathogenicrs363807GRCh37Chr 15, 48737627: 48737627
175FBN1NM_000138.4(FBN1): c.5788+5G> Asingle nucleotide variantPathogenicrs193922219GRCh37Chr 15, 48738898: 48738898
176FBN1NM_000138.4(FBN1): c.6658C> T (p.Arg2220Ter)single nucleotide variantLikely pathogenic, Pathogenicrs113001196GRCh37Chr 15, 48725144: 48725144
177FBN1NM_000138.4(FBN1): c.7167_7168delCT (p.Cys2390Serfs)deletionPathogenicrs397515846GRCh37Chr 15, 48719800: 48719801
178FBN1NM_000138.4(FBN1): c.7606G> A (p.Gly2536Arg)single nucleotide variantPathogenicrs397515854GRCh37Chr 15, 48713848: 48713848
179FBN1NM_000138.4(FBN1): c.7852G> A (p.Gly2618Arg)single nucleotide variantPathogenicrs141133182GRCh37Chr 15, 48707932: 48707932
180FBN1NM_000138.4(FBN1): c.7955G> A (p.Cys2652Tyr)single nucleotide variantLikely pathogenic, Pathogenicrs397515859GRCh37Chr 15, 48707829: 48707829
181NM_001613.2(ACTA2): c.635G> A (p.Arg212Gln)single nucleotide variantLikely pathogenic, Pathogenicrs397516685GRCh37Chr 10, 90699437: 90699437
182ACTA2NM_001141945.2(ACTA2): c.115C> T (p.Arg39Cys)single nucleotide variantPathogenicrs112901682GRCh37Chr 10, 90708573: 90708573
183MYH11NM_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

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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

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

(show all 42)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.1TGFBR1, TGFBR2
29.1TGFBR1, TGFBR2
39.1TGFBR1, TGFBR2
49.1TGFBR1, TGFBR2
5
Show member pathways
9.1ACTA2, MYH11, MYLK
69.1ACTA2, MYH11, MYLK
7
Show member pathways
9.1ACTA2, MYH11, MYLK
89.0SMAD3, TGFBR1
99.0SMAD3, TGFBR1
108.5SMAD3, TGFBR1, TGFBR2
11
Show member pathways
8.5SMAD3, TGFBR1, TGFBR2
128.5SMAD3, TGFBR1, TGFBR2
13
Show member pathways
8.5SMAD3, TGFBR1, TGFBR2
148.5SMAD3, TGFBR1, TGFBR2
158.5SMAD3, TGFBR1, TGFBR2
16
Show member pathways
8.5SMAD3, TGFBR1, TGFBR2
17
Show member pathways
8.5SMAD3, TGFBR1, TGFBR2
188.5SMAD3, 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
248.5SMAD3, TGFBR1, TGFBR2
258.5SMAD3, TGFBR1, TGFBR2
26
Show member pathways
8.5SMAD3, TGFBR1, TGFBR2
27
Show member pathways
8.5SMAD3, TGFBR1, TGFBR2
28
Show member pathways
8.5SMAD3, TGFBR1, TGFBR2
29
Show member pathways
8.5SMAD3, TGFBR1, TGFBR2
308.5SMAD3, TGFBR1, TGFBR2
31
Show member pathways
8.5SMAD3, TGFBR1, TGFBR2
328.5SMAD3, TGFBR1, TGFBR2
338.5SMAD3, 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
388.1COL3A1, SMAD3, TGFBR1, TGFBR2
398.1ACTA2, SMAD3, TGFBR1, TGFBR2
40
Show member pathways
7.2ACTA2, MYH11, MYLK, SMAD3, TGFBR1, TGFBR2
41
Show member pathways
7.0ACTA2, COL3A1, FBN1, MYH11, MYLK, TGFBR1
42
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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Biological processes related to Thoracic Aortic Aneurysms and Aortic Dissections according to GeneCards Suite gene sharing:

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1response to mechanical stimulusGO:000961210.0COL3A1, TGFBR2
2digestive tract developmentGO:004856510.0COL3A1, TGFBR2
3wound healingGO:00420609.9COL3A1, SMAD3
4gastrulationGO:00073699.8SMAD3, TGFBR2
5pathway-restricted SMAD protein phosphorylationGO:00603899.7TGFBR1, TGFBR2
6activin receptor signaling pathwayGO:00329249.6SMAD3, TGFBR1
7signal transduction by protein phosphorylationGO:00230149.5TGFBR1, TGFBR2
8cell cycle arrestGO:00070509.5SMAD3, TGFBR1
9positive regulation of epithelial to mesenchymal transitionGO:00107189.3SMAD3, TGFBR2
10muscle contractionGO:00069369.3ACTA2, MYH11, MYLK
11lens development in camera-type eyeGO:00020889.2TGFBR1, TGFBR2
12peptidyl-serine phosphorylationGO:00181059.0TGFBR1, TGFBR2
13palate developmentGO:00600218.8TGFBR1, TGFBR2
14embryonic cranial skeleton morphogenesisGO:00487018.8SMAD3, TGFBR1, TGFBR2
15in utero embryonic developmentGO:00017018.8SMAD3, TGFBR1, TGFBR2
16heart developmentGO:00075078.6COL3A1, FBN1, TGFBR1, TGFBR2
17transforming growth factor beta receptor signaling pathwayGO:00071798.1COL3A1, SMAD3, TGFBR1, TGFBR2

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

idNameGO IDScoreTop Affiliating Genes
1SMAD bindingGO:00463328.5SMAD3, 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