MCID: PLM184
MIFTS: 42

Pulmonary Arterial Hypertension Associated with Congenital Heart Disease

Categories: 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 59 6 17
Pah Associated with Congenital Heart Disease 59

Characteristics:

Orphanet epidemiological data:

59
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: 59  
Rare respiratory diseases


External Ids:

ICD10 via Orphanet 34 I27.2
Orphanet 59 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 vascular disease. 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 DREAM Repression and Dynorphin Expression and Human Embryonic Stem Cell Pluripotency. The drugs Carvedilol and Spironolactone have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and smooth muscle, and related phenotypes are Decreased viability and Decreased viability

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

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 viability GR00173-A 9.83 BMPR2
2 Decreased viability GR00221-A-1 9.83 BMPR1A BMPR2
3 Decreased viability GR00221-A-2 9.83 BMPR1A
4 Decreased viability GR00221-A-3 9.83 BMPR1A BMPR1B BMPR2
5 Decreased viability GR00221-A-4 9.83 BMPR1A BMPR2
6 Decreased viability GR00301-A 9.83 BMPR1B BMPR2
7 Decreased viability GR00342-S-1 9.83 BMPR1B
8 Decreased viability GR00402-S-2 9.83 BMPR1A BMPR1B BMPR2
9 Increased cell viability after pRB stimulation GR00230-A-1 8.8 BMPR1A BMPR1B BMPR2

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

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.1 BMPR1A BMPR2 CAV1 CCN2 CRP ENG
2 growth/size/body region MP:0005378 10.03 BMPR1A BMPR1B BMPR2 CAV1 CCN2 ENG
3 embryo MP:0005380 10 BMPR1A BMPR1B BMPR2 CCN2 ENG SMAD9
4 mortality/aging MP:0010768 9.97 BMPR1A BMPR1B BMPR2 CAV1 CCN2 ENG
5 craniofacial MP:0005382 9.88 BMPR1A BMPR1B CCN2 ENG SMAD9
6 limbs/digits/tail MP:0005371 9.8 BMPR1A BMPR1B CCN2 SMAD9 TBX4
7 nervous system MP:0003631 9.8 BMPR1A BMPR1B BMPR2 CAV1 ENG SMAD9
8 muscle MP:0005369 9.72 BMPR1A BMPR2 CAV1 ENG SMAD9
9 normal MP:0002873 9.7 BMPR1A BMPR1B BMPR2 CCN2 ENG SMAD9
10 respiratory system MP:0005388 9.43 BMPR1A BMPR2 CAV1 CCN2 ENG SMAD9
11 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 40)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carvedilol Approved, Investigational Phase 1 72956-09-3 2585
2
Spironolactone Approved Phase 1 1952-01-7, 52-01-7 5833
3
Captopril Approved Phase 1 62571-86-2 44093
4
Calcium Approved, Nutraceutical Phase 1 7440-70-2 271
5 Neurotransmitter Agents Phase 1
6 Antihypertensive Agents Phase 1
7 Hormones Phase 1
8 Adrenergic alpha-Antagonists Phase 1
9 Diuretics, Potassium Sparing Phase 1
10 HIV Protease Inhibitors Phase 1
11 Mineralocorticoid Receptor Antagonists Phase 1
12 Natriuretic Agents Phase 1
13 Antioxidants Phase 1
14 Mineralocorticoids Phase 1
15 Adrenergic Antagonists Phase 1
16 diuretics Phase 1
17 Adrenergic beta-Antagonists Phase 1
18 Adrenergic alpha-1 Receptor Antagonists Phase 1
19 Protective Agents Phase 1
20 Adrenergic Agents Phase 1
21 Hormone Antagonists Phase 1
22 Vasodilator Agents Phase 1
23 Calcium, Dietary Phase 1
24
protease inhibitors Phase 1
25 Angiotensin-Converting Enzyme Inhibitors Phase 1
26 calcium channel blockers Phase 1
27 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1
28
Ambrisentan Approved, Investigational 177036-94-1 6918493
29
Selexipag Approved 475086-01-2
30
Epoprostenol Approved 35121-78-9, 61849-14-7 5282411 5280427
31
Treprostinil Approved, Investigational 81846-19-7 6918140 54786
32
Macitentan Approved 441798-33-0
33
Riociguat Approved 625115-55-1
34
Iloprost Approved, Investigational 78919-13-8 6443959
35
Bosentan Approved, Investigational 147536-97-8 104865
36 Platelet Aggregation Inhibitors
37 Sildenafil Citrate 171599-83-0
38 Phosphodiesterase 5 Inhibitors
39 Imatinib Mesylate 220127-57-1 123596
40 Endothelin Receptor Antagonists

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
3 The Prevalence of BMPR-2 Gene Mutations in Korean Patients With Pulmonary Arterial Hypertension (PAH) and the Effects of Gene Mutations on Hemodynamic Response by Drug Therapy Completed NCT01054105 Iloprost
4 Prospective Registry of Newly Initiated Therapies for Pulmonary Hypertension Recruiting NCT01347216

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:

41
Heart, Testes, 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 109)
# Title Authors PMID Year
1
Guideline implementation and early risk assessment in pulmonary arterial hypertension associated with congenital heart disease: a retrospective cohort study. 38
31419027 2019
2
Peripartum outcomes in a large population of women with pulmonary arterial hypertension associated with congenital heart disease. 38
30971116 2019
3
Phosphodiesterase type 5 inhibitors improve microvascular dysfunction markers in pulmonary arterial hypertension associated with congenital heart disease. 38
30343508 2019
4
Pulmonary arterial hypertension in Russia: six-year observation analysis of the National Registry. 38
31090367 2019
5
2018 TSOC guideline focused update on diagnosis and treatment of pulmonary arterial hypertension. 38
30926248 2019
6
Selexipag treatment for pulmonary arterial hypertension associated with congenital heart disease after defect correction: insights from the randomised controlled GRIPHON study. 38
30632656 2019
7
Prognostic value of multiple repeated biomarkers in pulmonary arterial hypertension associated with congenital heart disease. 38
30520544 2019
8
Iron deficiency in pulmonary arterial hypertension associated with congenital heart disease. 38
30632395 2018
9
Management dilemmas in pulmonary arterial hypertension associated with congenital heart disease. 38
30033821 2018
10
MiR-23a regulates the proliferation and migration of human pulmonary artery smooth muscle cells (HPASMCs) through targeting BMPR2/Smad1 signaling. 38
29864909 2018
11
Acute and chronic dissection of pulmonary artery: new challenges in pulmonary arterial hypertension? 38
29251549 2018
12
Acute Effect of Inhaled Iloprost in Children with Pulmonary Arterial Hypertension Associated with Simple Congenital Heart Defects. 38
29426959 2018
13
Characteristics of Pulmonary Vascular Remodeling in a Novel Model of Shunt-Associated Pulmonary Arterial Hypertension. 38
29554080 2018
14
The efficiency of endothelin receptor antagonist bosentan for pulmonary arterial hypertension associated with congenital heart disease: A systematic review and meta-analysis. 38
29517668 2018
15
Acute Iloprost Inhalation Improves Right Ventricle Function in Pulmonary Artery Hypertension: A Cardiac Magnetic Resonance Study. 38
30719004 2018
16
Contemporary survival of patients with pulmonary arterial hypertension and congenital systemic to pulmonary shunts. 38
29664959 2018
17
Plasma Growth Differentiation Factor-15 is a Potential Biomarker for Pediatric Pulmonary Arterial Hypertension Associated with Congenital Heart Disease. 38
28819713 2017
18
[Long-term outcome and prognostic factors in pregnant women with pulmonary arterial hypertension associated with congenital heart disease]. 38
29136712 2017
19
Preliminary results from a nationwide adult cardiology perspective for pulmonary hypertension: RegiStry on clInical outcoMe and sUrvival in pulmonaRy hypertension Groups (SIMURG). 38
29076824 2017
20
Semi-quantitative assessment of pulmonary arterial hypertension associated with congenital heart disease through myocardial perfusion imaging. 38
29177254 2017
21
Pulmonary arterial hypertension in congenital heart disease: translational opportunities to study the reversibility of pulmonary vascular disease. 38
28369399 2017
22
The Changing Landscape of Pulmonary Arterial Hypertension in the Adult with Congenital Heart Disease. 38
28358329 2017
23
Pregnancy outcomes in patients with pulmonary arterial hypertension associated with congenital heart disease. 38
27511447 2017
24
Impact of advanced medical therapy for the outcome of an adult patient with Eisenmenger syndrome. 38
28348949 2017
25
Plasma Proteomic Study in Pulmonary Arterial Hypertension Associated with Congenital Heart Diseases. 38
27886187 2016
26
Genetic analyses in a cohort of children with pulmonary hypertension. 38
27587546 2016
27
Clinical classification in pediatric pulmonary arterial hypertension associated with congenital heart disease. 38
27683607 2016
28
Cost-utility and budget impact analysis of drug treatments in pulmonary arterial hypertension associated with congenital heart diseases in Thailand. 38
26566873 2016
29
Pulmonary arterial hypertension associated with congenital heart disease: Comparison of clinical and anatomic-pathophysiologic classification. 38
26880324 2016
30
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. 38
27053694 2016
31
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. 38
27053697 2016
32
MicroRNA-223 Attenuates Hypoxia-induced Vascular Remodeling by Targeting RhoB/MLC2 in Pulmonary Arterial Smooth Muscle Cells. 38
27121304 2016
33
Growth in children with pulmonary arterial hypertension: a longitudinal retrospective multiregistry study. 38
26994897 2016
34
Elevated Plasma Connective Tissue Growth Factor Levels in Children with Pulmonary Arterial Hypertension Associated with Congenital Heart Disease. 38
26714814 2016
35
Acute Vasodilator Response in Pediatric Pulmonary Arterial Hypertension: Current Clinical Practice From the TOPP Registry. 38
26988953 2016
36
Effect of dual pulmonary vasodilator therapy in pulmonary arterial hypertension associated with congenital heart disease: a retrospective analysis. 38
27099763 2016
37
The Challenges in Managing Pulmonary Arterial Hypertension Associated with Congenital Heart Disease. 38
27122916 2015
38
Riociguat for pulmonary arterial hypertension associated with congenital heart disease. 38
26135803 2015
39
Insight into Pulmonary Arterial Hypertension Associated with Congenital Heart Disease (PAH-CHD): Classification and Pharmacological Management from a Pediatric Cardiological Point of View. 38
27122915 2015
40
An improved method for detecting circulating microRNAs with S-Poly(T) Plus real-time PCR. 38
26459910 2015
41
Stepwise Approach Using Combined Management in Patients with Congenital Heart Disease and Borderline Pulmonary Vascular Disease. 38
26413109 2015
42
Combining bosentan and sildenafil in pulmonary arterial hypertension patients failing monotherapy: real-world insights. 38
26022952 2015
43
Survival in an incident cohort of patients with pulmonary arterial hypertension in Denmark. 38
26064463 2015
44
Pulmonary arterial hypertension associated with congenital heart disease and Eisenmenger syndrome: current practice in pediatrics. 38
25604592 2015
45
Cardiac catheterization in children with pulmonary hypertensive vascular disease. 38
25577228 2015
46
[Pulmonary hypertension associated with congenital heart disease and Eisenmenger syndrome]. 38
25650280 2015
47
Echocardiography in pediatric pulmonary arterial hypertension: early study on assessing disease severity and predicting outcome. 38
25552488 2015
48
Pulmonary arterial hypertension associated with congenital heart disease. Personal perspectives. 38
25787791 2015
49
Pulmonary arterial hypertension associated with congenital heart disease: recent advances and future directions. 38
25443244 2014
50
[Management of pulmonary arterial hypertension associated with congenital heart disease with specific pulmonary arterial hypertension vasoactive drugs combined with transcatheter closure strategy:a case report]. 38
25620261 2014

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 Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 BMPR2 NM_001204.7(BMPR2): c.556A> G (p.Met186Val) single nucleotide variant Pathogenic rs1085307244 2:203379637-203379637 2:202514914-202514914
2 BMPR2 NM_001204.7(BMPR2): c.319T> C (p.Ser107Pro) single nucleotide variant Pathogenic rs1085307207 2:203332313-203332313 2:202467590-202467590
3 BMPR2 NM_001204.7(BMPR2): c.304A> G (p.Thr102Ala) single nucleotide variant Pathogenic rs1085307206 2:203332298-203332298 2:202467575-202467575
4 BMPR2 NM_001204.7(BMPR2): c.140G> A (p.Gly47Asp) single nucleotide variant Pathogenic rs1085307168 2:203329595-203329595 2:202464872-202464872
5 BMPR2 NM_001204.7(BMPR2): c.125A> G (p.Gln42Arg) single nucleotide variant Pathogenic rs1085307167 2:203329580-203329580 2:202464857-202464857
6 BMPR2 NC_000002.11: g.203397450_203407034del9585insAGA indel Likely pathogenic 2:203397450-203407034 2:202532727-202542311
7 BMPR2 NM_001204.7(BMPR2): c.529+1G> A single nucleotide variant Likely pathogenic rs1553508187 2:203378553-203378553 2:202513830-202513830
8 SMAD9 NM_001127217.2(SMAD9): c.204C> A (p.Cys68Ter) single nucleotide variant Likely pathogenic rs146583835 13:37453623-37453623 13:36879486-36879486
9 TBX4 NM_001321120.2(TBX4): c.293C> G (p.Pro98Arg) single nucleotide variant Likely pathogenic rs1555882009 17:59543191-59543191 17:61465830-61465830
10 TBX4 NM_001321120.2(TBX4): c.538_547del (p.Pro180fs) deletion Likely pathogenic rs1555882291 17:59545007-59545016 17:61467646-61467655
11 TBX4 NM_001321120.2(TBX4): c.670_672del (p.Phe224del) deletion Likely pathogenic rs1555883338 17:59556108-59556110 17:61478747-61478749
12 BMPR2 NM_001204.7(BMPR2): c.1276+1G> A single nucleotide variant Likely pathogenic rs767070218 2:203397456-203397456 2:202532733-202532733
13 ENG NM_000118.3(ENG): c.1633G> A (p.Gly545Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs142896669 9:130580452-130580452 9:127818173-127818173
14 TBX4 NM_001321120.2(TBX4): c.702+1G> A single nucleotide variant Conflicting interpretations of pathogenicity rs1555883342 17:59556141-59556141 17:61478780-61478780
15 BMPR2 NM_001204.7(BMPR2): c.211G> A (p.Glu71Lys) single nucleotide variant Uncertain significance rs1553503208 2:203329666-203329666 2:202464943-202464943
16 BMPR2 NM_001204.6(BMPR2): c.419-43delT deletion Uncertain significance rs10714063 2:203378399-203378399 2:202513676-202513676
17 BMPR1A NM_004329.2(BMPR1A): c.1498A> G (p.Met500Val) single nucleotide variant Uncertain significance rs376651641 10:88683375-88683375 10:86923618-86923618
18 TBX4 NM_001321120.2(TBX4): c.749G> A (p.Arg250Gln) single nucleotide variant Uncertain significance rs1555883469 17:59557288-59557288 17:61479927-61479927
19 TBX4 NM_001321120.2(TBX4): c.1077del (p.Ser360fs) deletion Uncertain significance rs1555883805 17:59560313-59560313 17:61482952-61482952
20 TBX4 NM_001321120.2(TBX4): c.1115del (p.Pro372fs) deletion Uncertain significance rs754897911 17:59560351-59560351 17:61482990-61482990
21 BMPR2 NM_001204.7(BMPR2): c.2353G> A (p.Glu785Lys) single nucleotide variant Uncertain significance rs773135384 2:203420741-203420741 2:202556018-202556018
22 BMPR1B NM_001203.3(BMPR1B): c.547T> C (p.Ser183Pro) single nucleotide variant Uncertain significance rs141691706 4:96046234-96046234 4:95125083-95125083
23 CAV1 NM_001753.5(CAV1): c.238A> G (p.Ser80Gly) single nucleotide variant Uncertain significance rs369884333 7:116199042-116199042 7:116558988-116558988
24 SMAD9 NM_001127217.2(SMAD9): c.1156A> G (p.Asn386Asp) single nucleotide variant Uncertain significance rs142213379 13:37427660-37427660 13:36853523-36853523
25 BMPR2 NM_001204.7(BMPR2): c.1509A> C (p.Glu503Asp) single nucleotide variant Uncertain significance rs1060502583 2:203417534-203417534 2:202552811-202552811

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 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.37 SMAD9 BMPR2 BMPR1B BMPR1A
2
Show member pathways
12.2 SMAD9 BMPR2 BMPR1B BMPR1A
3 11.99 SMAD9 ENG CCN2 BMPR2
4 11.89 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 11.31 SMAD9 ENG
9 11.24 CCN2 CAV1
10 11.19 BMPR2 BMPR1A
11
Show member pathways
11.11 SMAD9 BMPR2 BMPR1B BMPR1A
12 10.91 ENG CCN2
13
Show member pathways
10.86 SMAD9 CAV1 BMPR2
14 10.54 SMAD9 BMPR2
15 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 35)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.9 ENG CRP CCN2 CAV1
2 angiogenesis GO:0001525 9.84 TBX4 ENG CCN2 CAV1
3 lung development GO:0030324 9.76 TBX4 CCN2 BMPR1A
4 pattern specification process GO:0007389 9.72 BMPR2 BMPR1B BMPR1A
5 positive regulation of osteoblast differentiation GO:0045669 9.7 BMPR2 BMPR1B BMPR1A
6 vasculogenesis GO:0001570 9.67 ENG CAV1
7 outflow tract morphogenesis GO:0003151 9.66 BMPR2 BMPR1A
8 positive regulation of cell differentiation GO:0045597 9.66 CCN2 BMPR1B
9 dorsal/ventral pattern formation GO:0009953 9.65 BMPR1B BMPR1A
10 chondrocyte differentiation GO:0002062 9.65 BMPR1B BMPR1A
11 positive regulation of BMP signaling pathway GO:0030513 9.65 ENG BMPR2
12 mesoderm formation GO:0001707 9.64 BMPR2 BMPR1A
13 positive regulation of collagen biosynthetic process GO:0032967 9.64 ENG CCN2
14 limb morphogenesis GO:0035108 9.63 TBX4 BMPR1B
15 cartilage condensation GO:0001502 9.63 CCN2 BMPR1B
16 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.63 ENG BMPR2 BMPR1A
17 endocardial cushion morphogenesis GO:0003203 9.62 ENG BMPR1A
18 chondrocyte development GO:0002063 9.62 BMPR2 BMPR1B
19 ventricular trabecula myocardium morphogenesis GO:0003222 9.61 ENG BMPR1A
20 positive regulation of cartilage development GO:0061036 9.61 BMPR2 BMPR1B
21 proteoglycan biosynthetic process GO:0030166 9.59 BMPR2 BMPR1B
22 pharyngeal arch artery morphogenesis GO:0061626 9.58 BMPR2 BMPR1A
23 positive regulation of bone mineralization GO:0030501 9.58 BMPR2 BMPR1B BMPR1A
24 mitral valve morphogenesis GO:0003183 9.57 BMPR2 BMPR1A
25 dorsal aorta morphogenesis GO:0035912 9.56 ENG BMPR1A
26 transforming growth factor beta receptor signaling pathway GO:0007179 9.56 SMAD9 BMPR2 BMPR1B BMPR1A
27 tricuspid valve morphogenesis GO:0003186 9.51 BMPR2 BMPR1A
28 outflow tract septum morphogenesis GO:0003148 9.5 ENG BMPR2 BMPR1A
29 negative regulation of chondrocyte proliferation GO:1902731 9.49 BMPR2 BMPR1B
30 endochondral bone morphogenesis GO:0060350 9.48 BMPR2 BMPR1B
31 extracellular matrix constituent secretion GO:0070278 9.43 ENG CCN2
32 regulation of cardiac muscle cell apoptotic process GO:0010665 9.37 ENG BMPR1A
33 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.33 BMPR2 BMPR1B BMPR1A
34 cellular response to BMP stimulus GO:0071773 9.26 SMAD9 BMPR2 BMPR1B BMPR1A
35 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 9.43 BMPR2 BMPR1B BMPR1A
2 BMP binding GO:0036122 9.4 ENG BMPR2
3 transforming growth factor beta receptor activity, type I GO:0005025 9.37 BMPR1B BMPR1A
4 growth factor binding GO:0019838 9.33 BMPR2 BMPR1B BMPR1A
5 BMP receptor activity GO:0098821 9.32 BMPR2 BMPR1A
6 transforming growth factor beta-activated receptor activity GO:0005024 9.13 BMPR2 BMPR1B BMPR1A
7 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
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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