MCID: HRT036
MIFTS: 36

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 skin, 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 all 37)
# Related Disease Score Top Affiliating Genes
1 aortic aneurysm, familial thoracic 2 30.8 FBN1 ACTA2
2 tricuspid valve prolapse 30.4 SMAD3 FBN1
3 aortic aneurysm, familial thoracic 6 30.2 MYLK MYH11 ACTA2
4 loeys-dietz syndrome 2 29.9 TGFBR2 MYH11
5 marfan syndrome 28.9 TGFBR2 TGFBR1 FBN1 COL3A1 ACTA2
6 familial thoracic aortic aneurysm and dissection 28.3 TGFBR2 TGFBR1 SMAD3 FBN1 COL3A1
7 aortic aneurysm, familial thoracic 1 27.8 TGFBR2 TGFBR1 SMAD3 MYH11 FBN1 COL3A1
8 aortic disease 27.6 TGFBR2 TGFBR1 TGFB2 SMAD4 PRKG1 MYH11
9 loeys-dietz syndrome 1 27.1 TGFBR2 TGFBR1 TGFB2 SMAD3 MYH11 FBN1
10 loeys-dietz syndrome 25.4 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 MYLK
11 aortic aneurysm 24.5 TGFBR2 TGFBR1 TGFB2 SMAD3 PRKG1 MYLK
12 familial abdominal aortic aneurysm 10.2 MYLK FBN1 COL3A1
13 intraductal papilloma 10.1 PRKG1 MYH11
14 subclavian artery aneurysm 10.1 TGFBR2 MYH11
15 dental pulp calcification 10.1 TGFBR2 FBN1 BGN
16 aortic valve disease 1 10.0 TGFBR2 FBN1 ACTA2
17 stiff skin syndrome 10.0 TGFB2 FBN1
18 cardiac conduction defect 10.0
19 aortic aneurysm, familial thoracic 4 10.0
20 meester-loeys syndrome 10.0
21 aortic aneurysm, familial thoracic 7 10.0
22 aortic aneurysm, familial thoracic 8 10.0
23 aortic aneurysm, familial thoracic 9 10.0
24 aortic aneurysm, familial thoracic 10 10.0
25 aortic aneurysm, familial thoracic 11 10.0
26 phacogenic glaucoma 9.9 LOX FBN1
27 char syndrome 9.9 TGFBR2 FBN1 COL3A1 ACTA2
28 multilocular clear cell renal cell carcinoma 9.9 TGFB3 TGFB2
29 mitral valve disease 9.7 TGFB3 TGFB2 FBN1
30 tuberculoid leprosy 9.7 TGFB3 TGFB2
31 transient hypogammaglobulinemia 9.7 TGFBR2 TGFBR1
32 cutis laxa, autosomal recessive, type ic 9.6 TGFBR2 TGFBR1
33 autosomal recessive cutis laxa type i 9.5 TGFBR2 TGFBR1 LOX
34 peyronie's disease 9.3 TGFB3 TGFB2 SMAD4 SMAD3
35 loeys-dietz syndrome 4 8.3 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3
36 pancreatic cancer 8.3 TGFBR2 TGFBR1 TGFB2 SMAD4 SMAD3
37 loeys-dietz syndrome 3 6.9 TGFBR2 TGFBR1 TGFB2 SMAD3 PRKG1 MYLK

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
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00107-A-1 10.26 TGFBR2
2 Decreased viability GR00221-A-1 10.26 COL3A1 MYLK PRKG1 TGFBR1 TGFBR2
3 Decreased viability GR00221-A-2 10.26 COL3A1 PRKG1
4 Decreased viability GR00221-A-3 10.26 TGFBR2
5 Decreased viability GR00221-A-4 10.26 COL3A1 MYLK PRKG1 TGFBR1 TGFBR2
6 Decreased viability GR00301-A 10.26 PRKG1
7 Decreased viability GR00402-S-2 10.26 COL3A1 MYLK PRKG1 TGFBR1 TGFBR2
8 Transferrin accumulation in the perinuclear area GR00356-A-3 8.8 MYLK PRKG1 TGFBR1

MGI Mouse Phenotypes related to Heritable Thoracic Aortic Disease:

46 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.4 ACTA2 COL3A1 FBN1 LOX MFAP5 MYH11
2 cellular MP:0005384 10.29 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 10.22 COL3A1 MYH11 MYLK PRKG1 SMAD3 SMAD4
7 mortality/aging MP:0010768 10.17 BGN COL3A1 FBN1 LOX MAT2A MYH11
8 hematopoietic system MP:0005397 10.13 FBN1 MFAP5 PRKG1 SMAD3 SMAD4 TGFB2
9 craniofacial MP:0005382 10.08 BGN FBN1 SMAD3 SMAD4 TGFB2 TGFB3
10 embryo MP:0005380 10.05 FBN1 SMAD3 SMAD4 TGFB2 TGFB3 TGFBR1
11 muscle MP:0005369 10.03 ACTA2 BGN COL3A1 FBN1 LOX MYH11
12 integument MP:0010771 10.01 BGN COL3A1 FBN1 LOX MYH11 SMAD3
13 limbs/digits/tail MP:0005371 9.85 BGN FBN1 SMAD3 SMAD4 TGFB2 TGFB3
14 renal/urinary system MP:0005367 9.7 FBN1 MYH11 MYLK PRKG1 SMAD3 SMAD4
15 respiratory system MP:0005388 9.56 COL3A1 FBN1 LOX MYH11 TGFB2 TGFB3
16 skeleton MP:0005390 9.32 BGN FBN1 MFAP5 MYLK SMAD3 SMAD4

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:

41
Smooth Muscle, Heart, Skin, Testes, Eye

Publications for Heritable Thoracic Aortic Disease

Articles related to Heritable Thoracic Aortic Disease:

(show top 50) (show all 90)
# Title Authors PMID Year
1
Use of genetics for personalized management of heritable thoracic aortic disease: how do we get there? 38 4
25218541 2015
2
International Registry of Patients Carrying TGFBR1 or TGFBR2 Mutations: Results of the MAC (Montalcino Aortic Consortium). 4
27879313 2016
3
Multimodality Assessment of Ascending Aortic Diameters: Comparison of Different Measurement Methods. 4
27288090 2016
4
Loss of function mutation in LOX causes thoracic aortic aneurysm and dissection in humans. 4
27432961 2016
5
Pathogenic FBN1 variants in familial thoracic aortic aneurysms and dissections. 4
26621581 2016
6
FOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1. 4
27218149 2016
7
LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections. 4
26838787 2016
8
FOXE3 mutations predispose to thoracic aortic aneurysms and dissections. 4
26854927 2016
9
The Need for Standardized Methods for Measuring the Aorta: Multimodality Core Lab Experience From the GenTAC Registry. 4
26897684 2016
10
Aortic Disease Presentation and Outcome Associated With ACTA2 Mutations. 4
25759435 2015
11
Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections. 4
25835445 2015
12
MAT2A mutations predispose individuals to thoracic aortic aneurysms. 4
25557781 2015
13
MFAP5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of familial thoracic aortic aneurysms and dissections. 4
25434006 2014
14
Atenolol versus losartan in children and young adults with Marfan's syndrome. 4
25405392 2014
15
Trends in aortic dissection hospitalizations, interventions, and outcomes among medicare beneficiaries in the United States, 2000-2011. 4
25336626 2014
16
Congenital mydriasis and prune belly syndrome in a child with an ACTA2 mutation. 4
24998021 2014
17
De novo mutation of the latency-associated peptide domain of TGFB3 in a patient with overgrowth and Loeys-Dietz syndrome features. 4
24798638 2014
18
Loeys-Dietz syndrome: a primer for diagnosis and management. 4
24577266 2014
19
How does the ascending aorta geometry change when it dissects? 4
24509277 2014
20
Acute aortic dissections with pregnancy in women with ACTA2 mutations. 4
24243736 2014
21
Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections. 4
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. 4
23824657 2013
23
Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD. 4
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. 4
21641667 2013
25
Brachial artery occlusion in a young adult with an ACTA2 thoracic aortic aneurysm. 4
22946110 2012
26
Normal limits in relation to age, body size and gender of two-dimensional echocardiographic aortic root dimensions in persons ≥15 years of age. 4
22770936 2012
27
Eye features in three Danish patients with multisystemic smooth muscle dysfunction syndrome. 4
22790431 2012
28
A novel distinctive cerebrovascular phenotype is associated with heterozygous Arg179 ACTA2 mutations. 4
22831780 2012
29
Aggressive cardiovascular phenotype of aneurysms-osteoarthritis syndrome caused by pathogenic SMAD3 variants. 4
22633655 2012
30
Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm. 4
22772368 2012
31
TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome. 4
22772371 2012
32
R179H mutation in ACTA2 expanding the phenotype to include prune-belly sequence and skin manifestations. 4
22302747 2012
33
Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms. 4
21778426 2011
34
Increased vertebral artery tortuosity index is associated with adverse outcomes in children and young adults with connective tissue disorders. 4
21730308 2011
35
Three novel mutations in the ACTA2 gene in German patients with thoracic aortic aneurysms and dissections. 4
21248741 2011
36
A novel, non-stop mutation in FOXE3 causes an autosomal dominant form of variable anterior segment dysgenesis including Peters anomaly. 4
21150893 2011
37
Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis. 4
21217753 2011
38
Risk of dissection in thoracic aneurysms associated with mutations of smooth muscle alpha-actin 2 (ACTA2). 4
21212136 2011
39
Mutations in myosin light chain kinase cause familial aortic dissections. 4
21055718 2010
40
De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction. 4
20734336 2010
41
Cardiovascular manifestations in men and women carrying a FBN1 mutation. 4
20709720 2010
42
Echocardiography in aortic diseases: EAE recommendations for clinical practice. 4
20823280 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. 4
20233780 2010
44
Paucity of skeletal manifestations in Hispanic families with FBN1 mutations. 4
19941982 2010
45
A mutation in the FOXE3 gene causes congenital primary aphakia in an autosomal recessive consanguineous Pakistani family. 4
20361012 2010
46
FBN1 mutations in patients with descending thoracic aortic dissections. 4
20082464 2010
47
Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders. 4
19996017 2009
48
Mutation of ACTA2 gene as an important cause of familial and nonfamilial nonsyndromatic thoracic aortic aneurysm and/or dissection (TAAD). 4
19639654 2009
49
Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene. 4
19293843 2009
50
Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations. 4
19542084 2009

Variations for Heritable Thoracic Aortic Disease

ClinVar genetic disease variations for Heritable Thoracic Aortic Disease:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SMAD4 NM_005359.5(SMAD4): c.290G> T (p.Arg97Leu) single nucleotide variant Likely pathogenic rs1555685159 18:48575096-48575096 18:51048726-51048726
2 SMAD4 NM_005359.5(SMAD4): c.736C> A (p.Pro246Thr) single nucleotide variant Uncertain significance rs876659967 18:48584563-48584563 18:51058193-51058193
3 SMAD4 NM_005359.5(SMAD4): c.70A> G (p.Met24Val) single nucleotide variant Uncertain significance 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 63)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.88 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
2
Show member pathways
13.53 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
3
Show member pathways
13.43 TGFBR2 TGFBR1 TGFB3 TGFB2 MYLK MYH11
4
Show member pathways
13.32 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
5
Show member pathways
13.07 TGFBR1 TGFB3 TGFB2 FBN1 COL3A1 ACTA2
6
Show member pathways
13.06 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3
7
Show member pathways
13.05 TGFBR2 TGFBR1 SMAD3 PRKG1 COL3A1 ACTA2
8
Show member pathways
12.97 TGFBR2 TGFBR1 TGFB3 TGFB2 PRKG1 MYH11
9
Show member pathways
12.92 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
10
Show member pathways
12.91 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
11
Show member pathways
12.9 TGFBR2 TGFBR1 TGFB3 TGFB2 MYLK ACTA2
12 12.88 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
13
Show member pathways
12.82 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
14
Show member pathways
12.77 TGFB3 TGFB2 MFAP5 LOX FBN1 COL3A1
15
Show member pathways
12.65 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
16
Show member pathways
12.53 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
17 12.4 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
18 12.37 TGFB3 TGFB2 SMAD4 SMAD3
19
Show member pathways
12.31 TGFBR2 TGFBR1 SMAD4 SMAD3
20 12.31 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
21
Show member pathways
12.29 TGFBR2 TGFBR1 TGFB2 SMAD4 SMAD3
22
Show member pathways
12.22 MYLK MYH11 FBN1 COL3A1 ACTA2
23 12.22 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3
24 12.22 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
25 12.17 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
26 12.15 TGFBR1 SMAD4 SMAD3 MYLK ACTA2
27
Show member pathways
12.14 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
28 12.12 TGFBR2 TGFBR1 SMAD4 SMAD3
29
Show member pathways
12.11 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
30
Show member pathways
12.07 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
31 12.01 TGFBR2 TGFBR1 TGFB2
32 11.99 PRKG1 MYLK COL3A1
33
Show member pathways
11.95 TGFBR2 TGFBR1 SMAD4 SMAD3
34 11.92 SMAD4 SMAD3 COL3A1
35 11.9 TGFB3 TGFB2 COL3A1
36 11.88 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
37 11.86 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
38 11.84 TGFBR1 TGFB3 TGFB2
39
Show member pathways
11.84 TGFBR2 TGFBR1 SMAD4 SMAD3 LOX
40 11.82 TGFBR2 TGFBR1 SMAD4 SMAD3
41 11.82 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
42 11.81 TGFBR2 TGFBR1 SMAD4 SMAD3
43
Show member pathways
11.81 TGFB3 TGFB2 MFAP5 LOX FBN1
44
Show member pathways
11.8 TGFBR2 TGFBR1 SMAD4 SMAD3
45 11.69 TGFBR2 TGFBR1 SMAD4 SMAD3
46 11.64 TGFB3 TGFB2 BGN
47
Show member pathways
11.6 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
48 11.6 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
49 11.58 TGFBR1 SMAD4 SMAD3
50 11.57 TGFBR2 TGFBR1 TGFB3 TGFB2

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 58)
# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.97 MFAP5 FBN1 COL3A1 BGN
2 in utero embryonic development GO:0001701 9.96 TGFBR2 TGFBR1 TGFB3 SMAD4 SMAD3
3 regulation of cell proliferation GO:0042127 9.94 TGFBR2 TGFB3 TGFB2 SMAD4
4 response to hypoxia GO:0001666 9.93 TGFBR2 TGFB3 TGFB2 SMAD4 SMAD3
5 cell cycle arrest GO:0007050 9.9 TGFBR1 TGFB2 SMAD3
6 kidney development GO:0001822 9.9 TGFBR1 TGFB2 SMAD4 FBN1
7 negative regulation of cell growth GO:0030308 9.89 TGFB2 SMAD4 SMAD3
8 muscle contraction GO:0006936 9.89 MYLK MYH11 ACTA2
9 skeletal system development GO:0001501 9.89 TGFBR1 TGFB2 SMAD3 FBN1 COL3A1
10 male gonad development GO:0008584 9.88 TGFBR1 TGFB2 SMAD4
11 heart development GO:0007507 9.88 TGFBR2 TGFBR1 TGFB2 LOX FBN1 COL3A1
12 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030512 9.87 TGFBR2 TGFBR1 TGFB3 SMAD3
13 cellular response to transforming growth factor beta stimulus GO:0071560 9.84 TGFBR1 SMAD3 FBN1
14 cell development GO:0048468 9.84 TGFB3 TGFB2 FOXE3
15 positive regulation of stress fiber assembly GO:0051496 9.83 TGFBR1 TGFB3 SMAD3
16 SMAD protein signal transduction GO:0060395 9.81 TGFB3 TGFB2 SMAD4 SMAD3
17 lens development in camera-type eye GO:0002088 9.8 TGFBR2 TGFBR1 FOXE3
18 gastrulation GO:0007369 9.79 TGFBR2 SMAD4 SMAD3
19 embryonic cranial skeleton morphogenesis GO:0048701 9.79 TGFBR2 TGFBR1 SMAD3
20 digestive tract development GO:0048565 9.78 TGFBR2 TGFB3 COL3A1
21 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.78 TGFBR1 TGFB3 TGFB2 SMAD4
22 outflow tract septum morphogenesis GO:0003148 9.77 TGFBR2 TGFB2 SMAD4
23 collagen fibril organization GO:0030199 9.76 TGFBR1 TGFB2 LOX COL3A1
24 cell-cell junction organization GO:0045216 9.75 TGFB3 TGFB2 SMAD3
25 ventricular septum morphogenesis GO:0060412 9.73 TGFBR2 TGFBR1 TGFB2 SMAD4
26 regulation of transforming growth factor beta receptor signaling pathway GO:0017015 9.72 SMAD4 SMAD3
27 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.72 TGFBR2 TGFBR1
28 uterus development GO:0060065 9.72 TGFB2 SMAD4
29 pathway-restricted SMAD protein phosphorylation GO:0060389 9.72 TGFBR2 TGFBR1 TGFB2
30 smooth muscle contraction GO:0006939 9.71 MYLK MYH11
31 activin receptor signaling pathway GO:0032924 9.71 TGFBR1 SMAD3
32 ventricular trabecula myocardium morphogenesis GO:0003222 9.71 TGFBR1 TGFB2
33 negative regulation of immune response GO:0050777 9.7 TGFB2 COL3A1
34 supramolecular fiber organization GO:0097435 9.7 MFAP5 COL3A1
35 positive regulation of SMAD protein signal transduction GO:0060391 9.7 TGFBR1 TGFB3 SMAD4
36 cardiac epithelial to mesenchymal transition GO:0060317 9.69 TGFBR1 TGFB2
37 atrioventricular valve morphogenesis GO:0003181 9.69 TGFBR2 TGFB2
38 salivary gland morphogenesis GO:0007435 9.69 TGFB3 TGFB2
39 response to cholesterol GO:0070723 9.68 TGFBR2 TGFBR1
40 membranous septum morphogenesis GO:0003149 9.68 TGFBR2 TGFB2
41 endothelial cell activation GO:0042118 9.68 TGFBR1 SMAD4
42 elastic fiber assembly GO:0048251 9.68 MYH11 LOX
43 SMAD protein complex assembly GO:0007183 9.67 SMAD4 SMAD3
44 negative regulation of macrophage cytokine production GO:0010936 9.65 TGFB3 TGFB2
45 aorta smooth muscle tissue morphogenesis GO:0060414 9.65 MYLK COL3A1
46 regulation of binding GO:0051098 9.64 SMAD4 SMAD3
47 endocardial cushion fusion GO:0003274 9.63 TGFBR2 TGFB2
48 positive regulation of epithelial to mesenchymal transition GO:0010718 9.63 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
49 positive regulation of tight junction disassembly GO:1905075 9.62 TGFBR1 TGFB3
50 uterine wall breakdown GO:0042704 9.58 TGFB3 TGFB2

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.98 TGFBR2 TGFBR1 PRKG1 MYLK MYH11 MAT2A
2 extracellular matrix structural constituent GO:0005201 9.56 MFAP5 FBN1 COL3A1 BGN
3 transforming growth factor beta receptor binding GO:0005160 9.54 TGFB3 TGFB2 SMAD3
4 R-SMAD binding GO:0070412 9.51 SMAD4 SMAD3
5 transforming growth factor beta-activated receptor activity GO:0005024 9.49 TGFBR2 TGFBR1
6 type I transforming growth factor beta receptor binding GO:0034713 9.48 TGFBR2 TGFB3
7 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.46 TGFBR2 TGFBR1
8 I-SMAD binding GO:0070411 9.4 TGFBR1 SMAD4
9 transforming growth factor beta binding GO:0050431 9.33 TGFBR2 TGFBR1 TGFB3
10 type III transforming growth factor beta receptor binding GO:0034714 9.32 TGFB3 TGFB2
11 SMAD binding GO:0046332 9.26 TGFBR2 TGFBR1 SMAD3 COL3A1
12 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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