MCID: PLM184
MIFTS: 42

Pulmonary Arterial Hypertension Associated with Congenital Heart Disease

Categories: Cardiovascular diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Pulmonary Arterial Hypertension Associated with Congenital Heart...

MalaCards integrated aliases for Pulmonary Arterial Hypertension Associated with Congenital Heart Disease:

Name: Pulmonary Arterial Hypertension Associated with Congenital Heart Disease 58 6 17
Pah Associated with Congenital Heart Disease 58

Characteristics:

Orphanet epidemiological data:

58
pulmonary arterial hypertension associated with congenital heart disease
Inheritance: Not applicable; Prevalence: 1-9/1000000 (France),<1/1000000 (France),1-9/1000000 (United Kingdom),1-9/1000000 (Spain),1-9/1000000 (Czech Republic),1-9/100000 (Netherlands),1-9/1000000 (Europe); Age of onset: All ages;

Classifications:

Orphanet: 58  
Rare respiratory diseases


External Ids:

ICD10 via Orphanet 33 I27.2
Orphanet 58 ORPHA275803

Summaries for Pulmonary Arterial Hypertension Associated with Congenital Heart...

MalaCards based summary : Pulmonary Arterial Hypertension Associated with Congenital Heart Disease, also known as pah associated with congenital heart disease, is related to pulmonary hypertension, primary, 1 and atrial heart septal defect. An important gene associated with Pulmonary Arterial Hypertension Associated with Congenital Heart Disease is BMPR2 (Bone Morphogenetic Protein Receptor Type 2), and among its related pathways/superpathways are nNOS Signaling in Skeletal Muscle and Human Embryonic Stem Cell Pluripotency. The drugs Spironolactone and Carvedilol have been mentioned in the context of this disorder. Affiliated tissues include heart, smooth muscle and endothelial, and related phenotypes are Decreased cell viability after pRB stimulation and cardiovascular system

Related Diseases for Pulmonary Arterial Hypertension Associated with Congenital Heart...

Diseases related to Pulmonary Arterial Hypertension Associated with Congenital Heart Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 65)
# Related Disease Score Top Affiliating Genes
1 pulmonary hypertension, primary, 1 31.6 TBX4 ENG BMPR2
2 atrial heart septal defect 30.4 SMAD9 CRP BMPR2
3 heart disease 29.5 TBX4 SMAD9 ENG CRP CCN2 CAV1
4 pulmonary hypertension 28.6 TBX4 SMAD9 ENG CRP CCN2 CAV1
5 eisenmenger syndrome 10.7
6 down syndrome 10.6
7 vascular disease 10.5
8 patent ductus arteriosus 1 10.5
9 ventricular septal defect 10.5
10 heart septal defect 10.5
11 cardiac conduction defect 10.2
12 pulmonary venoocclusive disease 2, autosomal recessive 10.2
13 pulmonary venoocclusive disease 1, autosomal dominant 10.2
14 dextro-looped transposition of the great arteries 10.2
15 portal hypertension 10.2
16 respiratory failure 10.2
17 pulmonary edema 10.2
18 hemopericardium 10.2
19 pericardial effusion 10.2
20 iron metabolism disease 10.2
21 interstitial lung disease 10.2
22 liver cirrhosis 10.2
23 lung disease 10.2
24 chromosomal triplication 10.2
25 pulmonary arterial hypertension associated with portal hypertension 10.2
26 chromosome 10q23 deletion syndrome 10.1 BMPR1B BMPR1A
27 chronic thromboembolic pulmonary hypertension 10.1 CRP BMPR2
28 brachydactyly, type a1 10.1 BMPR1B BMPR1A
29 brachydactyly, type a1, b 10.1 BMPR1B BMPR1A
30 lipid pneumonia 10.1 TBX4 CRP
31 generalized juvenile polyposis/juvenile polyposis coli 10.1 ENG BMPR1A
32 pulmonary valve insufficiency 10.1 CRP BMPR2
33 large intestine lipoma 10.0 CRP BMPR1A
34 tricuspid valve disease 10.0 CRP BMPR2
35 lipoma of colon 10.0 CRP BMPR1A
36 tracheal disease 10.0 TBX4 CRP
37 persistent mullerian duct syndrome 10.0 BMPR1B BMPR1A
38 tricuspid valve insufficiency 10.0 CRP BMPR2
39 chronic pulmonary heart disease 10.0 SMAD9 BMPR2 BMPR1B
40 bicipital tenosynovitis 10.0 ENG CRP
41 proximal symphalangism 10.0 TBX4 BMPR1B
42 late congenital syphilis 10.0 ENG CRP
43 brachydactyly, type a2 10.0 BMPR2 BMPR1B BMPR1A
44 capillary lymphangioma 10.0 ENG CRP
45 early congenital syphilis 10.0 ENG CRP
46 hepatopulmonary syndrome 10.0 ENG BMPR2
47 pulmonary arteriovenous malformation 10.0 LOC102723566 ENG
48 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 9.9 ENG BMPR2 BMPR1A
49 mobitz type ii atrioventricular block 9.9 ENG CRP
50 telangiectasis 9.9 ENG BMPR2 BMPR1A

Graphical network of the top 20 diseases related to Pulmonary Arterial Hypertension Associated with Congenital Heart Disease:



Diseases related to Pulmonary Arterial Hypertension Associated with Congenital Heart Disease

Symptoms & Phenotypes for Pulmonary Arterial Hypertension Associated with Congenital Heart...

GenomeRNAi Phenotypes related to Pulmonary Arterial Hypertension Associated with Congenital Heart Disease according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased cell viability after pRB stimulation GR00230-A-1 8.62 BMPR1A BMPR2

MGI Mouse Phenotypes related to Pulmonary Arterial Hypertension Associated with Congenital Heart Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.06 BMPR1A BMPR2 CAV1 CCN2 CRP ENG
2 growth/size/body region MP:0005378 9.97 BMPR1A BMPR1B BMPR2 CAV1 CCN2 ENG
3 embryo MP:0005380 9.95 BMPR1A BMPR1B BMPR2 CCN2 ENG SMAD9
4 craniofacial MP:0005382 9.83 BMPR1A BMPR1B CCN2 ENG SMAD9
5 limbs/digits/tail MP:0005371 9.8 BMPR1A BMPR1B CCN2 ENG SMAD9 TBX4
6 normal MP:0002873 9.7 BMPR1A BMPR1B BMPR2 CCN2 ENG SMAD9
7 muscle MP:0005369 9.65 BMPR1A BMPR2 CAV1 ENG SMAD9
8 respiratory system MP:0005388 9.43 BMPR1A BMPR2 CAV1 CCN2 ENG SMAD9
9 skeleton MP:0005390 9.17 BMPR1A BMPR1B BMPR2 CAV1 CCN2 SMAD9

Drugs & Therapeutics for Pulmonary Arterial Hypertension Associated with Congenital Heart...

Drugs for Pulmonary Arterial Hypertension Associated with Congenital Heart Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 25)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Spironolactone Approved Phase 1 1952-01-7, 52-01-7 5833
2
Carvedilol Approved, Investigational Phase 1 72956-09-3 2585
3
Captopril Approved Phase 1 62571-86-2 44093
4 Adrenergic alpha-1 Receptor Antagonists Phase 1
5 Adrenergic alpha-Antagonists Phase 1
6 Hormones Phase 1
7 Hormone Antagonists Phase 1
8 Neurotransmitter Agents Phase 1
9 Adrenergic Antagonists Phase 1
10 Protective Agents Phase 1
11 Angiotensin-Converting Enzyme Inhibitors Phase 1
12 Mineralocorticoid Receptor Antagonists Phase 1
13 Antioxidants Phase 1
14 Adrenergic beta-Antagonists Phase 1
15 Antihypertensive Agents Phase 1
16 diuretics Phase 1
17 Diuretics, Potassium Sparing Phase 1
18 calcium channel blockers Phase 1
19 Calcium, Dietary Phase 1
20 Adrenergic Agents Phase 1
21 HIV Protease Inhibitors Phase 1
22
protease inhibitors Phase 1
23 Vasodilator Agents Phase 1
24 Mineralocorticoids Phase 1
25
Calcium Nutraceutical Phase 1 7440-70-2 271

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Official Title: Spironolactone Combined With Captopril and Carvedilol for the Treatment of Patients With Pulmonary Arterial Hypertension Associated With Congenital Heart Disease-Focus on Pulmonary Artery Remodeling Completed NCT00240656 Phase 1 spironolactone captopril carvedilol
2 The Screening and Analysis of Plasma Biomarkers in Irreversible Pulmonary Arterial Hypertension Associated With Congenital Heart Disease Completed NCT02267200

Search NIH Clinical Center for Pulmonary Arterial Hypertension Associated with Congenital Heart Disease

Genetic Tests for Pulmonary Arterial Hypertension Associated with Congenital Heart...

Anatomical Context for Pulmonary Arterial Hypertension Associated with Congenital Heart...

MalaCards organs/tissues related to Pulmonary Arterial Hypertension Associated with Congenital Heart Disease:

40
Heart, Smooth Muscle, Endothelial

Publications for Pulmonary Arterial Hypertension Associated with Congenital Heart...

Articles related to Pulmonary Arterial Hypertension Associated with Congenital Heart Disease:

(show top 50) (show all 127)
# Title Authors PMID Year
1
Genes that drive the pathobiology of pediatric pulmonary arterial hypertension. 61
31917901 2021
2
The prevalence and clinical outcome of supraventricular tachycardia in different etiologies of pulmonary hypertension. 61
33471824 2021
3
Pulmonary Arterial Hypertension Associated with Congenital Heart Disease in Adults over the Age of 40 Years. 61
33348628 2020
4
Nestin represents a potential marker of pulmonary vascular remodeling in pulmonary arterial hypertension associated with congenital heart disease. 61
32950539 2020
5
Contemporary use of Selexipag in pulmonary arterial hypertension associated with congenital heart disease: a case series. 61
33442633 2020
6
Eisenmenger syndrome: diagnosis, prognosis and clinical management. 61
32690623 2020
7
The Genetic Epidemiology of Pediatric Pulmonary Arterial Hypertension. 61
32502478 2020
8
Pulmonary arterial hypertension: closing the gap in congenital heart disease. 61
32657834 2020
9
Pulmonary vasodilators can lead to various complications in pulmonary "arterial" hypertension associated with congenital heart disease. 61
32285188 2020
10
Efficacy and Safety of Long-Term Oral Bosentan in Different Types of Pulmonary Arterial Hypertension: A Systematic Review and Meta-Analysis. 61
32918210 2020
11
Angiotensin converting enzyme 2 and angiotensin (1-7) axis in pulmonary arterial hypertension. 61
32241831 2020
12
Children and Adolescents with Pulmonary Arterial Hypertension: Baseline and Follow-Up Data from the Polish Registry of Pulmonary Hypertension (BNP-PL). 61
32503164 2020
13
Assessment of right ventricular function in patients with pulmonary arterial hypertension-congenital heart disease and repaired and unrepaired defects: Correlation among speckle tracking, conventional echocardiography, and clinical parameters. 61
32352408 2020
14
Understanding the current status of patients with pulmonary hypertension during COVID-19 outbreak: a small-scale national survey from China. 61
32523686 2020
15
Pulmonary hypertension associated with congenital heart disease; clinical decision scenario. 61
33294357 2020
16
Idiopathic Pulmonary Arterial Hypertension and Pulmonary Arterial Hypertension Associated With Congenital Heart Disease in Chinese Children: Similarities, Differences, and Prognostic Factors. 61
32296664 2020
17
Pulmonary arterial hypertension populations of special interest: portopulmonary hypertension and pulmonary arterial hypertension associated with congenital heart disease. 61
31857799 2019
18
2018 TSOC guideline focused update on diagnosis and treatment of pulmonary arterial hypertension. 61
30926248 2019
19
Eisenmenger Syndrome: A Multisystem Disorder-Do Not Destabilize the Balanced but Fragile Physiology. 61
31813503 2019
20
Guideline implementation and early risk assessment in pulmonary arterial hypertension associated with congenital heart disease: A retrospective cohort study. 61
31419027 2019
21
Peripartum outcomes in a large population of women with pulmonary arterial hypertension associated with congenital heart disease. 61
30971116 2019
22
Selexipag treatment for pulmonary arterial hypertension associated with congenital heart disease after defect correction: insights from the randomised controlled GRIPHON study. 61
30632656 2019
23
Phosphodiesterase type 5 inhibitors improve microvascular dysfunction markers in pulmonary arterial hypertension associated with congenital heart disease. 61
30343508 2019
24
Pulmonary arterial hypertension in Russia: six-year observation analysis of the National Registry. 61
31090367 2019
25
Prognostic value of multiple repeated biomarkers in pulmonary arterial hypertension associated with congenital heart disease. 61
30520544 2019
26
Iron deficiency in pulmonary arterial hypertension associated with congenital heart disease. 61
30632395 2018
27
Management dilemmas in pulmonary arterial hypertension associated with congenital heart disease. 61
30033821 2018
28
MiR-23a regulates the proliferation and migration of human pulmonary artery smooth muscle cells (HPASMCs) through targeting BMPR2/Smad1 signaling. 61
29864909 2018
29
Acute and chronic dissection of pulmonary artery: new challenges in pulmonary arterial hypertension? 61
29251549 2018
30
Acute Effect of Inhaled Iloprost in Children with Pulmonary Arterial Hypertension Associated with Simple Congenital Heart Defects. 61
29426959 2018
31
Characteristics of Pulmonary Vascular Remodeling in a Novel Model of Shunt-Associated Pulmonary Arterial Hypertension. 61
29554080 2018
32
The efficiency of endothelin receptor antagonist bosentan for pulmonary arterial hypertension associated with congenital heart disease: A systematic review and meta-analysis. 61
29517668 2018
33
Contemporary survival of patients with pulmonary arterial hypertension and congenital systemic to pulmonary shunts. 61
29664959 2018
34
Acute Iloprost Inhalation Improves Right Ventricle Function in Pulmonary Artery Hypertension: A Cardiac Magnetic Resonance Study. 61
30719004 2018
35
Plasma Growth Differentiation Factor-15 is a Potential Biomarker for Pediatric Pulmonary Arterial Hypertension Associated with Congenital Heart Disease. 61
28819713 2017
36
[Long-term outcome and prognostic factors in pregnant women with pulmonary arterial hypertension associated with congenital heart disease]. 61
29136712 2017
37
Preliminary results from a nationwide adult cardiology perspective for pulmonary hypertension: RegiStry on clInical outcoMe and sUrvival in pulmonaRy hypertension Groups (SIMURG). 61
29076824 2017
38
Semi-quantitative assessment of pulmonary arterial hypertension associated with congenital heart disease through myocardial perfusion imaging. 61
29177254 2017
39
Pulmonary arterial hypertension in congenital heart disease: translational opportunities to study the reversibility of pulmonary vascular disease. 61
28369399 2017
40
The Changing Landscape of Pulmonary Arterial Hypertension in the Adult with Congenital Heart Disease. 61
28358329 2017
41
Pregnancy outcomes in patients with pulmonary arterial hypertension associated with congenital heart disease. 61
27511447 2017
42
Impact of advanced medical therapy for the outcome of an adult patient with Eisenmenger syndrome. 61
28348949 2017
43
Plasma Proteomic Study in Pulmonary Arterial Hypertension Associated with Congenital Heart Diseases. 61
27886187 2016
44
Genetic analyses in a cohort of children with pulmonary hypertension. 61
27587546 2016
45
Clinical classification in pediatric pulmonary arterial hypertension associated with congenital heart disease. 61
27683607 2016
46
Cost-utility and budget impact analysis of drug treatments in pulmonary arterial hypertension associated with congenital heart diseases in Thailand. 61
26566873 2016
47
Pulmonary arterial hypertension associated with congenital heart disease: Comparison of clinical and anatomic-pathophysiologic classification. 61
26880324 2016
48
Hemodynamic assessment and acute pulmonary vasoreactivity testing in the evaluation of children with pulmonary vascular disease. Expert consensus statement on the diagnosis and treatment of paediatric pulmonary hypertension. The European Paediatric Pulmonary Vascular Disease Network, endorsed by ISHLT and DGPK. 61
27053694 2016
49
Pulmonary hypertension in children with congenital heart disease (PAH-CHD, PPHVD-CHD). Expert consensus statement on the diagnosis and treatment of paediatric pulmonary hypertension. The European Paediatric Pulmonary Vascular Disease Network, endorsed by ISHLT and DGPK. 61
27053697 2016
50
MicroRNA-223 Attenuates Hypoxia-induced Vascular Remodeling by Targeting RhoB/MLC2 in Pulmonary Arterial Smooth Muscle Cells. 61
27121304 2016

Variations for Pulmonary Arterial Hypertension Associated with Congenital Heart...

ClinVar genetic disease variations for Pulmonary Arterial Hypertension Associated with Congenital Heart Disease:

6 (show all 25)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BMPR2 NM_001204.7(BMPR2):c.304A>G (p.Thr102Ala) SNV Pathogenic 425756 rs1085307206 2:203332298-203332298 2:202467575-202467575
2 BMPR2 NM_001204.7(BMPR2):c.140G>A (p.Gly47Asp) SNV Pathogenic 425707 rs1085307168 2:203329595-203329595 2:202464872-202464872
3 BMPR2 NM_001204.7(BMPR2):c.319T>C (p.Ser107Pro) SNV Pathogenic 425757 rs1085307207 2:203332313-203332313 2:202467590-202467590
4 BMPR2 NM_001204.7(BMPR2):c.125A>G (p.Gln42Arg) SNV Pathogenic 425706 rs1085307167 2:203329580-203329580 2:202464857-202464857
5 BMPR2 NM_001204.7(BMPR2):c.556A>G (p.Met186Val) SNV Pathogenic 425805 rs1085307244 2:203379637-203379637 2:202514914-202514914
6 BMPR2 NM_001204.7(BMPR2):c.1276+1G>A SNV Likely pathogenic 425911 rs767070218 2:203397456-203397456 2:202532733-202532733
7 BMPR2 NC_000002.11:g.203397450_203407034del9585insAGA Indel Likely pathogenic 548926 2:203397450-203407034 2:202532727-202542311
8 BMPR2 NM_001204.7(BMPR2):c.529+1G>A SNV Likely pathogenic 548686 rs1553508187 2:203378553-203378553 2:202513830-202513830
9 TBX4 NM_001321120.2(TBX4):c.293C>G (p.Pro98Arg) SNV Likely pathogenic 548692 rs1555882009 17:59543191-59543191 17:61465830-61465830
10 SMAD9 NM_001127217.2(SMAD9):c.204C>A (p.Cys68Ter) SNV Likely pathogenic 548690 rs146583835 13:37453623-37453623 13:36879486-36879486
11 TBX4 NM_001321120.2(TBX4):c.538_547del (p.Pro180fs) Deletion Likely pathogenic 548695 rs1555882291 17:59545006-59545015 17:61467645-61467654
12 TBX4 NM_001321120.2(TBX4):c.670_672del (p.Phe224del) Deletion Likely pathogenic 548697 rs1555883338 17:59556107-59556109 17:61478746-61478748
13 TBX4 NM_001321120.2(TBX4):c.749G>A (p.Arg250Gln) SNV Uncertain significance 548696 rs1555883469 17:59557288-59557288 17:61479927-61479927
14 SMAD9 NM_005905.6(SMAD9):c.1045A>G (p.Asn349Asp) SNV Uncertain significance 548691 rs142213379 13:37427660-37427660 13:36853523-36853523
15 TBX4 NM_001321120.2(TBX4):c.1077del (p.Ser360fs) Deletion Uncertain significance 548693 rs1555883805 17:59560309-59560309 17:61482948-61482948
16 TBX4 NM_001321120.2(TBX4):c.702+1G>A SNV Uncertain significance 547941 rs1555883342 17:59556141-59556141 17:61478780-61478780
17 TBX4 NM_001321120.2(TBX4):c.1115del (p.Pro372fs) Deletion Uncertain significance 548694 rs754897911 17:59560345-59560345 17:61482984-61482984
18 BMPR2 NM_001204.7(BMPR2):c.2353G>A (p.Glu785Lys) SNV Uncertain significance 548687 rs773135384 2:203420741-203420741 2:202556018-202556018
19 BMPR2 NM_001204.7(BMPR2):c.211G>A (p.Glu71Lys) SNV Uncertain significance 548688 rs1553503208 2:203329666-203329666 2:202464943-202464943
20 CAV1 NM_001753.5(CAV1):c.238A>G (p.Ser80Gly) SNV Uncertain significance 548689 rs369884333 7:116199042-116199042 7:116558988-116558988
21 ENG NM_001114753.3(ENG):c.1633G>A (p.Gly545Ser) SNV Uncertain significance 237022 rs142896669 9:130580452-130580452 9:127818173-127818173
22 BMPR2 NM_001204.7(BMPR2):c.419-38del Deletion Uncertain significance 548685 rs10714063 2:203378399-203378399 2:202513676-202513676
23 BMPR2 NM_001204.7(BMPR2):c.1509A>C (p.Glu503Asp) SNV Uncertain significance 409828 rs1060502583 2:203417534-203417534 2:202552811-202552811
24 BMPR1A NM_004329.2(BMPR1A):c.1498A>G (p.Met500Val) SNV Uncertain significance 301353 rs376651641 10:88683375-88683375 10:86923618-86923618
25 BMPR1B NM_001203.3(BMPR1B):c.547T>C (p.Ser183Pro) SNV Uncertain significance 548684 rs141691706 4:96046234-96046234 4:95125083-95125083

Expression for Pulmonary Arterial Hypertension Associated with Congenital Heart...

Search GEO for disease gene expression data for Pulmonary Arterial Hypertension Associated with Congenital Heart Disease.

Pathways for Pulmonary Arterial Hypertension Associated with Congenital Heart...

Pathways related to Pulmonary Arterial Hypertension Associated with Congenital Heart Disease according to GeneCards Suite gene sharing:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.39 SMAD9 BMPR2 BMPR1B BMPR1A
2
Show member pathways
12.2 SMAD9 BMPR2 BMPR1B BMPR1A
3 11.99 SMAD9 ENG CCN2 BMPR2
4 11.9 CCN2 BMPR2 BMPR1B BMPR1A
5 11.82 SMAD9 BMPR2 BMPR1B BMPR1A
6 11.77 CAV1 BMPR2 BMPR1B BMPR1A
7 11.43 SMAD9 BMPR2 BMPR1B BMPR1A
8 11.24 CCN2 CAV1
9 11.19 BMPR2 BMPR1A
10
Show member pathways
11.11 SMAD9 BMPR2 BMPR1B BMPR1A
11 10.91 ENG CCN2
12
Show member pathways
10.86 SMAD9 CAV1 BMPR2
13 10.52 SMAD9 BMPR2
14 10.27 SMAD9 BMPR2 BMPR1B BMPR1A

GO Terms for Pulmonary Arterial Hypertension Associated with Congenital Heart...

Cellular components related to Pulmonary Arterial Hypertension Associated with Congenital Heart Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 HFE-transferrin receptor complex GO:1990712 9.16 BMPR1B BMPR1A
2 caveola GO:0005901 9.13 CAV1 BMPR2 BMPR1A
3 receptor complex GO:0043235 8.92 ENG BMPR2 BMPR1B BMPR1A

Biological processes related to Pulmonary Arterial Hypertension Associated with Congenital Heart Disease according to GeneCards Suite gene sharing:

(show all 38)
# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 10 SMAD9 CCN2 CAV1 BMPR1B BMPR1A
2 positive regulation of gene expression GO:0010628 9.93 ENG CRP CCN2 CAV1
3 angiogenesis GO:0001525 9.81 TBX4 ENG CCN2 CAV1
4 transforming growth factor beta receptor signaling pathway GO:0007179 9.76 SMAD9 ENG BMPR1A
5 lung development GO:0030324 9.75 TBX4 CCN2 BMPR1A
6 positive regulation of osteoblast differentiation GO:0045669 9.71 BMPR2 BMPR1B BMPR1A
7 cellular response to growth factor stimulus GO:0071363 9.7 BMPR2 BMPR1B BMPR1A
8 outflow tract morphogenesis GO:0003151 9.68 BMPR2 BMPR1A
9 positive regulation of cell differentiation GO:0045597 9.67 CCN2 BMPR1B
10 chondrocyte differentiation GO:0002062 9.67 BMPR1B BMPR1A
11 dorsal/ventral pattern formation GO:0009953 9.67 BMPR1B BMPR1A
12 negative regulation of endothelial cell proliferation GO:0001937 9.66 ENG CAV1
13 positive regulation of BMP signaling pathway GO:0030513 9.66 ENG BMPR2
14 mesoderm formation GO:0001707 9.65 BMPR2 BMPR1A
15 positive regulation of collagen biosynthetic process GO:0032967 9.65 ENG CCN2
16 limb morphogenesis GO:0035108 9.65 TBX4 BMPR1B
17 proteoglycan biosynthetic process GO:0030166 9.64 BMPR2 BMPR1B
18 cartilage condensation GO:0001502 9.64 CCN2 BMPR1B
19 chondrocyte development GO:0002063 9.63 BMPR2 BMPR1B
20 vasoconstriction GO:0042310 9.62 CRP CAV1
21 endocardial cushion morphogenesis GO:0003203 9.62 ENG BMPR1A
22 positive regulation of cartilage development GO:0061036 9.61 BMPR2 BMPR1B
23 negative regulation of nitric-oxide synthase activity GO:0051001 9.6 ENG CAV1
24 ventricular trabecula myocardium morphogenesis GO:0003222 9.59 ENG BMPR1A
25 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.58 ENG BMPR2 BMPR1A
26 pharyngeal arch artery morphogenesis GO:0061626 9.57 BMPR2 BMPR1A
27 dorsal aorta morphogenesis GO:0035912 9.56 ENG BMPR1A
28 mitral valve morphogenesis GO:0003183 9.55 BMPR2 BMPR1A
29 positive regulation of bone mineralization GO:0030501 9.54 BMPR2 BMPR1B BMPR1A
30 negative regulation of chondrocyte proliferation GO:1902731 9.49 BMPR2 BMPR1B
31 endochondral bone morphogenesis GO:0060350 9.48 BMPR2 BMPR1B
32 extracellular matrix constituent secretion GO:0070278 9.46 ENG CCN2
33 tricuspid valve morphogenesis GO:0003186 9.43 BMPR2 BMPR1A
34 outflow tract septum morphogenesis GO:0003148 9.43 ENG BMPR2 BMPR1A
35 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.33 BMPR2 BMPR1B BMPR1A
36 regulation of cardiac muscle cell apoptotic process GO:0010665 9.32 ENG BMPR1A
37 cellular response to BMP stimulus GO:0071773 9.26 SMAD9 BMPR2 BMPR1B BMPR1A
38 BMP signaling pathway GO:0030509 9.02 SMAD9 ENG BMPR2 BMPR1B BMPR1A

Molecular functions related to Pulmonary Arterial Hypertension Associated with Congenital Heart Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 SMAD binding GO:0046332 9.37 BMPR1B BMPR1A
2 BMP binding GO:0036122 9.32 ENG BMPR2
3 transforming growth factor beta-activated receptor activity GO:0005024 9.26 ENG BMPR2
4 BMP receptor activity GO:0098821 9.16 BMPR2 BMPR1A
5 transforming growth factor beta receptor activity, type I GO:0005025 8.96 BMPR1B BMPR1A
6 transmembrane receptor protein serine/threonine kinase activity GO:0004675 8.8 BMPR2 BMPR1B BMPR1A

Sources for Pulmonary Arterial Hypertension Associated with Congenital Heart...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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