MCID: HRT036
MIFTS: 35

Heritable Thoracic Aortic Disease

Aliases & Classifications for Heritable Thoracic Aortic Disease

MalaCards integrated aliases for Heritable Thoracic Aortic Disease:

Name: Heritable Thoracic Aortic Disease 24 29 6

Summaries for Heritable Thoracic Aortic Disease

MalaCards based summary : Heritable Thoracic Aortic Disease is related to aortic aneurysm, familial thoracic 2 and tricuspid valve prolapse. An important gene associated with Heritable Thoracic Aortic Disease is SMAD4 (SMAD Family Member 4), and among its related pathways/superpathways are ERK Signaling and Activation of cAMP-Dependent PKA. Affiliated tissues include smooth muscle, heart and eye, and related phenotypes are Decreased viability and Decreased viability

GeneReviews: NBK1120

Related Diseases for Heritable Thoracic Aortic Disease

Diseases related to Heritable Thoracic Aortic Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 67)
# Related Disease Score Top Affiliating Genes
1 aortic aneurysm, familial thoracic 2 30.3 FBN1 COL3A1 ACTA2
2 tricuspid valve prolapse 30.1 TGFBR2 TGFBR1 FBN1 COL3A1
3 aortic aneurysm, familial thoracic 6 29.7 TGFBR1 MYLK MYH11 ACTA2
4 marfan syndrome 27.7 TGFBR2 TGFBR1 TGFB2 MYLK MYH11 LOX
5 loeys-dietz syndrome 1 27.0 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 MYH11
6 loeys-dietz syndrome 25.3 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
7 aortic aneurysm, familial thoracic 1 24.8 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
8 aortic aneurysm 24.7 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
9 aortic disease 24.6 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
10 familial thoracic aortic aneurysm and dissection 24.1 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 PRKG1
11 transient hypogammaglobulinemia of infancy 10.4 TGFBR2 TGFBR1
12 transient hypogammaglobulinemia 10.4 TGFBR2 TGFBR1
13 subclavian artery aneurysm 10.4 TGFBR2 FBN1
14 eisenmenger syndrome 10.3 TGFBR2 TGFBR1
15 ectopia lentis 2, isolated, autosomal recessive 10.3 TGFBR2 FBN1
16 biliary tract cancer 10.3 TGFBR2 SMAD4
17 ectopia lentis 1, isolated, autosomal dominant 10.3 TGFBR2 FBN1
18 multiple self-healing squamous epithelioma 10.3 TGFBR2 TGFBR1
19 ureteric orifice cancer 10.3 LOX FBN1
20 pulsating exophthalmos 10.2 TGFBR2 TGFBR1 COL3A1
21 telangiectasis 10.2 TGFBR1 SMAD4 FBN1
22 cutis laxa, autosomal dominant 1 10.2 TGFBR2 TGFBR1 FBN1
23 brittle bone disorder 10.1 FBN1 COL3A1 BGN
24 autosomal dominant non-syndromic intellectual disability 19 10.1 SMAD4 SMAD3
25 visceral myopathy 10.1 MYLK MYH11
26 familial abdominal aortic aneurysm 10.0 MYLK FBN1 COL3A1
27 albinism, ocular, with late-onset sensorineural deafness 10.0 SMAD4 SMAD3
28 contractures, pterygia, and variable skeletal fusions syndrome 1a 10.0 TGFBR2 SMAD4 FBN1
29 cardiac conduction defect 10.0
30 aortic aneurysm, familial thoracic 4 10.0
31 meester-loeys syndrome 10.0
32 loeys-dietz syndrome 2 10.0
33 aortic aneurysm, familial thoracic 7 10.0
34 aortic aneurysm, familial thoracic 8 10.0
35 aortic aneurysm, familial thoracic 9 10.0
36 aortic aneurysm, familial thoracic 10 10.0
37 aortic aneurysm, familial thoracic 11 10.0
38 megacystis-microcolon-intestinal hypoperistalsis syndrome 9.9 MYLK MYH11 ACTA2
39 nephrogenic systemic fibrosis 9.9 SMAD4 SMAD3
40 ocular cicatricial pemphigoid 9.9 TGFBR2 ACTA2
41 ehlers-danlos syndrome 9.9 TGFBR1 MYH11 FBN1 COL3A1
42 tracheal stenosis 9.9 TGFB3 FBN1
43 stiff skin syndrome 9.9 TGFB2 FBN1
44 tendinosis 9.8 TGFBR2 TGFB2
45 moyamoya disease 1 9.8 TGFBR2 MYLK MYH11 ACTA2
46 aortic valve insufficiency 9.8 TGFBR2 TGFBR1 MYH11 FBN1 ACTA2
47 collagen disease 9.7 TGFBR1 SMAD3 FBN1 COL3A1
48 hypertrophic scars 9.7 TGFB3 SMAD3
49 intraductal papilloma 9.7 PRKG1 MYH11
50 hereditary hemorrhagic telangiectasia 9.7 TGFBR2 TGFBR1 TGFB2 SMAD4

Graphical network of the top 20 diseases related to Heritable Thoracic Aortic Disease:



Diseases related to Heritable Thoracic Aortic Disease

Symptoms & Phenotypes for Heritable Thoracic Aortic Disease

GenomeRNAi Phenotypes related to Heritable Thoracic Aortic Disease according to GeneCards Suite gene sharing:

26 (show all 44)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00107-A-1 10.46 TGFBR2
2 Decreased viability GR00221-A-1 10.46 COL3A1 MYLK PRKG1 TGFBR1 TGFBR2
3 Decreased viability GR00221-A-2 10.46 COL3A1 PRKG1
4 Decreased viability GR00221-A-3 10.46 TGFBR2
5 Decreased viability GR00221-A-4 10.46 COL3A1 MYLK PRKG1 TGFBR1 TGFBR2
6 Decreased viability GR00301-A 10.46 PRKG1
7 Decreased viability GR00402-S-2 10.46 COL3A1 MYLK PRKG1 TGFBR1 TGFBR2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-107 10.3 TGFB2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-115 10.3 TGFB2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-12 10.3 TGFBR2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-121 10.3 TGFBR2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-123 10.3 TGFBR2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-132 10.3 TGFBR2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-133 10.3 TGFB2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-138 10.3 TGFB2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-147 10.3 TGFBR1 TGFBR2
17 Increased shRNA abundance (Z-score > 2) GR00366-A-152 10.3 TGFBR2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-162 10.3 TGFBR2
19 Increased shRNA abundance (Z-score > 2) GR00366-A-164 10.3 TGFBR2
20 Increased shRNA abundance (Z-score > 2) GR00366-A-169 10.3 TGFBR1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-180 10.3 TGFBR1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-182 10.3 PRKG1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-186 10.3 TGFBR2
24 Increased shRNA abundance (Z-score > 2) GR00366-A-188 10.3 TGFBR2
25 Increased shRNA abundance (Z-score > 2) GR00366-A-196 10.3 TGFB2
26 Increased shRNA abundance (Z-score > 2) GR00366-A-200 10.3 TGFBR1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-208 10.3 PRKG1
28 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.3 PRKG1 TGFBR2
29 Increased shRNA abundance (Z-score > 2) GR00366-A-215 10.3 TGFB2
30 Increased shRNA abundance (Z-score > 2) GR00366-A-26 10.3 TGFB2
31 Increased shRNA abundance (Z-score > 2) GR00366-A-36 10.3 TGFBR1
32 Increased shRNA abundance (Z-score > 2) GR00366-A-37 10.3 TGFBR1
33 Increased shRNA abundance (Z-score > 2) GR00366-A-39 10.3 TGFBR2
34 Increased shRNA abundance (Z-score > 2) GR00366-A-42 10.3 TGFB2
35 Increased shRNA abundance (Z-score > 2) GR00366-A-50 10.3 TGFB2
36 Increased shRNA abundance (Z-score > 2) GR00366-A-60 10.3 PRKG1 TGFB2 TGFBR1 TGFBR2
37 Increased shRNA abundance (Z-score > 2) GR00366-A-67 10.3 PRKG1
38 Increased shRNA abundance (Z-score > 2) GR00366-A-7 10.3 TGFBR2
39 Increased shRNA abundance (Z-score > 2) GR00366-A-73 10.3 TGFB2 TGFBR2
40 Increased shRNA abundance (Z-score > 2) GR00366-A-77 10.3 TGFBR1
41 Increased shRNA abundance (Z-score > 2) GR00366-A-81 10.3 TGFBR2
42 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.3 PRKG1 TGFBR1
43 Increased shRNA abundance (Z-score > 2) GR00366-A-88 10.3 PRKG1 TGFBR1
44 Transferrin accumulation in the perinuclear area GR00356-A-3 8.8 MYLK PRKG1 TGFBR1

MGI Mouse Phenotypes related to Heritable Thoracic Aortic Disease:

45 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.39 ACTA2 COL3A1 FBN1 LOX MFAP5 MYH11
2 cellular MP:0005384 10.28 BGN COL3A1 FBN1 MYH11 PRKG1 SMAD3
3 homeostasis/metabolism MP:0005376 10.27 BGN COL3A1 FBN1 LOX MYH11 MYLK
4 immune system MP:0005387 10.25 BGN COL3A1 FBN1 MAT2A MFAP5 MYLK
5 growth/size/body region MP:0005378 10.24 BGN COL3A1 FBN1 MYH11 MYLK SMAD3
6 digestive/alimentary MP:0005381 10.21 COL3A1 MYH11 MYLK PRKG1 SMAD3 SMAD4
7 hematopoietic system MP:0005397 10.18 COL3A1 FBN1 MFAP5 PRKG1 SMAD3 SMAD4
8 mortality/aging MP:0010768 10.17 BGN COL3A1 FBN1 LOX MAT2A MYH11
9 craniofacial MP:0005382 10.07 BGN FBN1 SMAD3 SMAD4 TGFB2 TGFB3
10 integument MP:0010771 10.06 BGN COL3A1 FBN1 LOX MYH11 SMAD3
11 muscle MP:0005369 10.03 ACTA2 BGN COL3A1 FBN1 LOX MYH11
12 limbs/digits/tail MP:0005371 9.85 BGN FBN1 SMAD3 SMAD4 TGFB2 TGFB3
13 renal/urinary system MP:0005367 9.76 FBN1 MYH11 MYLK PRKG1 SMAD3 SMAD4
14 respiratory system MP:0005388 9.56 COL3A1 FBN1 LOX MYH11 TGFB2 TGFB3
15 skeleton MP:0005390 9.36 BGN FBN1 LOX MFAP5 MYLK SMAD3

Drugs & Therapeutics for Heritable Thoracic Aortic Disease

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Montalcino Aortic Consortium: Precision Medicine for Heritable Thoracic Aortic Disease Recruiting NCT04005976

Search NIH Clinical Center for Heritable Thoracic Aortic Disease

Genetic Tests for Heritable Thoracic Aortic Disease

Genetic tests related to Heritable Thoracic Aortic Disease:

# Genetic test Affiliating Genes
1 Heritable Thoracic Aortic Disease 29

Anatomical Context for Heritable Thoracic Aortic Disease

MalaCards organs/tissues related to Heritable Thoracic Aortic Disease:

40
Smooth Muscle, Heart, Eye, Skin, Testes

Publications for Heritable Thoracic Aortic Disease

Articles related to Heritable Thoracic Aortic Disease:

(show top 50) (show all 91)
# Title Authors PMID Year
1
Use of genetics for personalized management of heritable thoracic aortic disease: how do we get there? 61 24
25218541 2015
2
International Registry of Patients Carrying TGFBR1 or TGFBR2 Mutations: Results of the MAC (Montalcino Aortic Consortium). 24
27879313 2016
3
Multimodality Assessment of Ascending Aortic Diameters: Comparison of Different Measurement Methods. 24
27288090 2016
4
Loss of function mutation in LOX causes thoracic aortic aneurysm and dissection in humans. 24
27432961 2016
5
Pathogenic FBN1 variants in familial thoracic aortic aneurysms and dissections. 24
26621581 2016
6
FOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1. 24
27218149 2016
7
The Need for Standardized Methods for Measuring the Aorta: Multimodality Core Lab Experience From the GenTAC Registry. 24
26897684 2016
8
LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections. 24
26838787 2016
9
FOXE3 mutations predispose to thoracic aortic aneurysms and dissections. 24
26854927 2016
10
Aortic Disease Presentation and Outcome Associated With ACTA2 Mutations. 24
25759435 2015
11
Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections. 24
25835445 2015
12
MAT2A mutations predispose individuals to thoracic aortic aneurysms. 24
25557781 2015
13
MFAP5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of familial thoracic aortic aneurysms and dissections. 24
25434006 2014
14
Trends in aortic dissection hospitalizations, interventions, and outcomes among medicare beneficiaries in the United States, 2000-2011. 24
25336626 2014
15
Atenolol versus losartan in children and young adults with Marfan's syndrome. 24
25405392 2014
16
Congenital mydriasis and prune belly syndrome in a child with an ACTA2 mutation. 24
24998021 2014
17
De novo mutation of the latency-associated peptide domain of TGFB3 in a patient with overgrowth and Loeys-Dietz syndrome features. 24
24798638 2014
18
Loeys-Dietz syndrome: a primer for diagnosis and management. 24
24577266 2014
19
How does the ascending aorta geometry change when it dissects? 24
24509277 2014
20
Acute aortic dissections with pregnancy in women with ACTA2 mutations. 24
24243736 2014
21
Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections. 24
23910461 2013
22
A mutation in TGFB3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with Marfan and Loeys-Dietz syndrome. 24
23824657 2013
23
Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD. 24
21937134 2013
24
Body-surface adjusted aortic reference diameters for improved identification of patients with thoracic aortic aneurysms: results from the population-based Heinz Nixdorf Recall study. 24
21641667 2013
25
Normal limits in relation to age, body size and gender of two-dimensional echocardiographic aortic root dimensions in persons ≥15 years of age. 24
22770936 2012
26
Brachial artery occlusion in a young adult with an ACTA2 thoracic aortic aneurysm. 24
22946110 2012
27
Eye features in three Danish patients with multisystemic smooth muscle dysfunction syndrome. 24
22790431 2012
28
A novel distinctive cerebrovascular phenotype is associated with heterozygous Arg179 ACTA2 mutations. 24
22831780 2012
29
Aggressive cardiovascular phenotype of aneurysms-osteoarthritis syndrome caused by pathogenic SMAD3 variants. 24
22633655 2012
30
Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm. 24
22772368 2012
31
TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome. 24
22772371 2012
32
R179H mutation in ACTA2 expanding the phenotype to include prune-belly sequence and skin manifestations. 24
22302747 2012
33
Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms. 24
21778426 2011
34
Increased vertebral artery tortuosity index is associated with adverse outcomes in children and young adults with connective tissue disorders. 24
21730308 2011
35
Three novel mutations in the ACTA2 gene in German patients with thoracic aortic aneurysms and dissections. 24
21248741 2011
36
A novel, non-stop mutation in FOXE3 causes an autosomal dominant form of variable anterior segment dysgenesis including Peters anomaly. 24
21150893 2011
37
Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis. 24
21217753 2011
38
Risk of dissection in thoracic aneurysms associated with mutations of smooth muscle alpha-actin 2 (ACTA2). 24
21212136 2011
39
Mutations in myosin light chain kinase cause familial aortic dissections. 24
21055718 2010
40
De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction. 24
20734336 2010
41
Echocardiography in aortic diseases: EAE recommendations for clinical practice. 24
20823280 2010
42
Cardiovascular manifestations in men and women carrying a FBN1 mutation. 24
20709720 2010
43
2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM guidelines for the diagnosis and management of patients with Thoracic Aortic Disease: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines, American Association for Thoracic Surgery, American College of Radiology, American Stroke Association, Society of Cardiovascular Anesthesiologists, Society for Cardiovascular Angiography and Interventions, Society of Interventional Radiology, Society of Thoracic Surgeons, and Society for Vascular Medicine. 24
20233780 2010
44
Paucity of skeletal manifestations in Hispanic families with FBN1 mutations. 24
19941982 2010
45
A mutation in the FOXE3 gene causes congenital primary aphakia in an autosomal recessive consanguineous Pakistani family. 24
20361012 2010
46
FBN1 mutations in patients with descending thoracic aortic dissections. 24
20082464 2010
47
Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders. 24
19996017 2009
48
Mutation of ACTA2 gene as an important cause of familial and nonfamilial nonsyndromatic thoracic aortic aneurysm and/or dissection (TAAD). 24
19639654 2009
49
Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene. 24
19293843 2009
50
Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations. 24
19542084 2009

Variations for Heritable Thoracic Aortic Disease

ClinVar genetic disease variations for Heritable Thoracic Aortic Disease:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SMAD4 NM_005359.5(SMAD4):c.290G>T (p.Arg97Leu)SNV Likely pathogenic 560163 rs1555685159 18:48575096-48575096 18:51048726-51048726
2 SMAD4 NM_005359.5(SMAD4):c.736C>A (p.Pro246Thr)SNV Uncertain significance 232751 rs876659967 18:48584563-48584563 18:51058193-51058193
3 SMAD4 NM_005359.5(SMAD4):c.70A>G (p.Met24Val)SNV Uncertain significance 231829 rs876659391 18:48573486-48573486 18:51047116-51047116

Expression for Heritable Thoracic Aortic Disease

Search GEO for disease gene expression data for Heritable Thoracic Aortic Disease.

Pathways for Heritable Thoracic Aortic Disease

Pathways related to Heritable Thoracic Aortic Disease according to GeneCards Suite gene sharing:

(show top 50) (show all 58)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.82 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
2
Show member pathways
13.52 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
3
Show member pathways
13.43 TGFBR2 TGFBR1 TGFB3 TGFB2 MYLK MYH11
4
Show member pathways
13.3 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
5
Show member pathways
13.11 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
6
Show member pathways
13.06 TGFBR1 TGFB3 TGFB2 FBN1 COL3A1 ACTA2
7
Show member pathways
12.96 TGFBR2 TGFBR1 TGFB3 TGFB2 PRKG1 MYH11
8
Show member pathways
12.9 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
9
Show member pathways
12.89 TGFBR2 TGFBR1 TGFB3 TGFB2 MYLK ACTA2
10 12.87 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
11
Show member pathways
12.81 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
12
Show member pathways
12.77 TGFB3 TGFB2 MFAP5 LOX FBN1 COL3A1
13
Show member pathways
12.64 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
14
Show member pathways
12.51 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
15
Show member pathways
12.47 PRKG1 MYLK MYH11 ACTA2
16 12.38 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
17 12.36 TGFB3 TGFB2 SMAD4 SMAD3
18
Show member pathways
12.3 TGFBR2 TGFBR1 SMAD4 SMAD3
19 12.3 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
20
Show member pathways
12.29 TGFBR2 TGFBR1 TGFB2 SMAD4 SMAD3
21 12.22 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3
22 12.2 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
23 12.16 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
24 12.14 TGFBR1 SMAD4 SMAD3 MYLK ACTA2
25 12.11 TGFBR2 TGFBR1 SMAD4 SMAD3
26
Show member pathways
12.09 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
27
Show member pathways
12.05 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
28 12 TGFBR2 TGFBR1 TGFB2
29 11.99 PRKG1 MYLK COL3A1
30
Show member pathways
11.94 TGFBR2 TGFBR1 SMAD4 SMAD3
31 11.92 SMAD4 SMAD3 COL3A1
32 11.9 TGFB3 TGFB2 COL3A1
33 11.83 TGFBR1 TGFB3 TGFB2
34
Show member pathways
11.83 TGFBR2 TGFBR1 SMAD4 SMAD3 LOX
35 11.83 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
36 11.82 TGFBR2 TGFBR1 SMAD4 SMAD3
37 11.81 TGFBR2 TGFBR1 SMAD4 SMAD3
38
Show member pathways
11.8 TGFBR2 TGFBR1 SMAD4 SMAD3
39
Show member pathways
11.8 TGFB3 TGFB2 MFAP5 LOX FBN1
40 11.7 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
41 11.69 TGFBR2 TGFBR1 SMAD4 SMAD3
42 11.62 TGFB3 TGFB2 BGN
43 11.6 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
44 11.57 TGFBR1 SMAD4 SMAD3
45
Show member pathways
11.57 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
46 11.55 TGFBR2 TGFBR1 TGFB2
47 11.55 TGFBR2 TGFBR1 TGFB3 TGFB2
48 11.54 TGFBR2 TGFBR1 TGFB3 SMAD4 SMAD3
49 11.47 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
50 11.42 MYLK MYH11 ACTA2

GO Terms for Heritable Thoracic Aortic Disease

Cellular components related to Heritable Thoracic Aortic Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 9.35 MFAP5 LOX FBN1 COL3A1 BGN
2 microfibril GO:0001527 9.26 MFAP5 FBN1
3 SMAD protein complex GO:0071141 9.16 SMAD4 SMAD3
4 collagen-containing extracellular matrix GO:0062023 9.1 TGFB3 TGFB2 MFAP5 FBN1 COL3A1 BGN

Biological processes related to Heritable Thoracic Aortic Disease according to GeneCards Suite gene sharing:

(show top 50) (show all 61)
# Name GO ID Score Top Affiliating Genes
1 protein phosphorylation GO:0006468 10.11 TGFBR2 TGFBR1 TGFB2 PRKG1 MYLK
2 positive regulation of transcription, DNA-templated GO:0045893 10.11 TGFBR1 TGFB3 SMAD4 SMAD3 ACTA2
3 negative regulation of cell proliferation GO:0008285 10.07 TGFBR2 TGFB3 TGFB2 SMAD4 SMAD3
4 regulation of cell proliferation GO:0042127 9.98 TGFBR2 TGFB3 TGFB2 SMAD4
5 extracellular matrix organization GO:0030198 9.98 MFAP5 LOX FBN1 COL3A1 BGN
6 in utero embryonic development GO:0001701 9.97 TGFBR2 TGFBR1 TGFB3 SMAD4 SMAD3
7 response to hypoxia GO:0001666 9.93 TGFBR2 TGFB3 TGFB2 SMAD4 SMAD3
8 kidney development GO:0001822 9.92 TGFBR1 TGFB2 SMAD4 FBN1
9 cell cycle arrest GO:0007050 9.9 TGFBR1 TGFB2 SMAD3
10 negative regulation of cell growth GO:0030308 9.9 TGFB2 SMAD4 SMAD3
11 muscle contraction GO:0006936 9.9 MYLK MYH11 ACTA2
12 male gonad development GO:0008584 9.89 TGFBR1 TGFB2 SMAD4
13 skeletal system development GO:0001501 9.89 TGFBR1 TGFB2 SMAD3 FBN1 COL3A1
14 BMP signaling pathway GO:0030509 9.88 TGFB3 TGFB2 SMAD4
15 heart development GO:0007507 9.88 TGFBR2 TGFBR1 TGFB2 LOX FBN1 COL3A1
16 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030512 9.86 TGFBR2 TGFBR1 TGFB3 SMAD3
17 cellular response to transforming growth factor beta stimulus GO:0071560 9.85 TGFBR1 SMAD3 FBN1
18 cell development GO:0048468 9.85 TGFB3 TGFB2 FOXE3
19 positive regulation of stress fiber assembly GO:0051496 9.84 TGFBR1 TGFB3 SMAD3
20 lens development in camera-type eye GO:0002088 9.83 TGFBR2 TGFBR1 FOXE3
21 SMAD protein signal transduction GO:0060395 9.83 TGFB3 TGFB2 SMAD4 SMAD3
22 gastrulation GO:0007369 9.81 TGFBR2 SMAD4 SMAD3
23 embryonic cranial skeleton morphogenesis GO:0048701 9.8 TGFBR2 TGFBR1 SMAD3
24 digestive tract development GO:0048565 9.8 TGFBR2 TGFB3 COL3A1
25 outflow tract septum morphogenesis GO:0003148 9.79 TGFBR2 TGFB2 SMAD4
26 collagen fibril organization GO:0030199 9.78 TGFBR1 TGFB2 LOX COL3A1
27 cell-cell junction organization GO:0045216 9.77 TGFB3 TGFB2 SMAD3
28 regulation of transforming growth factor beta receptor signaling pathway GO:0017015 9.77 SMAD4 SMAD3 LOX
29 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.76 TGFBR1 TGFB3 TGFB2 SMAD4
30 activin receptor signaling pathway GO:0032924 9.74 TGFBR2 TGFBR1 SMAD3
31 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.73 TGFBR2 TGFBR1
32 ventricular septum morphogenesis GO:0060412 9.73 TGFBR2 TGFBR1 TGFB2 SMAD4
33 uterus development GO:0060065 9.72 TGFB2 SMAD4
34 smooth muscle contraction GO:0006939 9.72 MYLK MYH11
35 ventricular trabecula myocardium morphogenesis GO:0003222 9.72 TGFBR1 TGFB2
36 pathway-restricted SMAD protein phosphorylation GO:0060389 9.72 TGFBR2 TGFBR1 TGFB2
37 negative regulation of immune response GO:0050777 9.71 TGFB2 COL3A1
38 supramolecular fiber organization GO:0097435 9.71 MFAP5 COL3A1
39 cardiac epithelial to mesenchymal transition GO:0060317 9.71 TGFBR1 TGFB2
40 atrioventricular valve morphogenesis GO:0003181 9.7 TGFBR2 TGFB2
41 response to cholesterol GO:0070723 9.7 TGFBR2 TGFBR1
42 endothelial cell activation GO:0042118 9.7 TGFBR1 SMAD4
43 salivary gland morphogenesis GO:0007435 9.69 TGFB3 TGFB2
44 membranous septum morphogenesis GO:0003149 9.69 TGFBR2 TGFB2
45 elastic fiber assembly GO:0048251 9.69 MYH11 LOX
46 positive regulation of SMAD protein signal transduction GO:0060391 9.69 TGFBR1 TGFB3 SMAD4
47 cell growth GO:0016049 9.68 TGFB3 TGFB2
48 SMAD protein complex assembly GO:0007183 9.68 SMAD4 SMAD3
49 aorta smooth muscle tissue morphogenesis GO:0060414 9.66 MYLK COL3A1
50 regulation of striated muscle tissue development GO:0016202 9.66 SMAD3 LOX

Molecular functions related to Heritable Thoracic Aortic Disease according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 10.04 TGFBR2 TGFBR1 PRKG1 MYLK MYH11 MAT2A
2 collagen binding GO:0005518 9.58 SMAD4 SMAD3 LOX
3 extracellular matrix structural constituent GO:0005201 9.56 MFAP5 FBN1 COL3A1 BGN
4 transforming growth factor beta receptor binding GO:0005160 9.54 TGFB3 TGFB2 SMAD3
5 activin binding GO:0048185 9.52 TGFBR2 TGFBR1
6 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.51 TGFBR2 TGFBR1
7 I-SMAD binding GO:0070411 9.48 TGFBR1 SMAD4
8 type I transforming growth factor beta receptor binding GO:0034713 9.46 TGFBR2 TGFB3
9 transforming growth factor beta-activated receptor activity GO:0005024 9.43 TGFBR2 TGFBR1
10 transforming growth factor beta binding GO:0050431 9.33 TGFBR2 TGFBR1 TGFB3
11 type III transforming growth factor beta receptor binding GO:0034714 9.32 TGFB3 TGFB2
12 SMAD binding GO:0046332 9.26 TGFBR2 TGFBR1 SMAD3 COL3A1
13 type II transforming growth factor beta receptor binding GO:0005114 8.8 TGFBR1 TGFB3 TGFB2

Sources for Heritable Thoracic Aortic Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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