MCID: PLM037
MIFTS: 75

Pulmonary Hypertension

Categories: Cardiovascular diseases, Respiratory diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Pulmonary Hypertension

MalaCards integrated aliases for Pulmonary Hypertension:

Name: Pulmonary Hypertension 41 38 12 76 43 3 15 63 73
Primary Pulmonary Hypertension 41 12 76 37 29 55 6 15
Idiopathic Pulmonary Arterial Hypertension 73
Idiopathic Pulmonary Hypertension 73
Hypertension, Pulmonary 44
Hypertension Pulmonary 55

Classifications:



External Ids:

Disease Ontology 12 DOID:14557 DOID:6432
ICD10 33 I27.0 I27.2
ICD9CM 35 416.0
NCIt 50 C97119 C3120
MeSH 44 D006976
KEGG 37 H01619

Summaries for Pulmonary Hypertension

MedlinePlus : 43 Pulmonary hypertension (PH) is high blood pressure in the arteries to your lungs. It is a serious condition. If you have it, the blood vessels that carry blood from your heart to your lungs become hard and narrow. Your heart has to work harder to pump the blood through. Over time, your heart weakens and cannot do its job and you can develop heart failure. Symptoms of PH include Shortness of breath during routine activity, such as climbing two flights of stairs Tiredness Chest pain A racing heartbeat Pain on the upper right side of the abdomen Decreased appetite As PH worsens, you may find it hard to do any physical activities. There are two main kinds of PH. One runs in families or appears for no known reason. The other kind is related to another condition, usually heart or lung disease. There is no cure for PH. Treatments can control symptoms. They involve treating the heart or lung disease, medicines, oxygen, and sometimes lung transplantation. NIH: National Heart, Lung, and Blood Institute

MalaCards based summary : Pulmonary Hypertension, also known as primary pulmonary hypertension, is related to pulmonary hypertension, primary, 1 and chronic thromboembolic pulmonary hypertension, and has symptoms including angina pectoris, chest pain and coughing. An important gene associated with Pulmonary Hypertension is BMPR2 (Bone Morphogenetic Protein Receptor Type 2), and among its related pathways/superpathways are TGF-beta signaling pathway and MicroRNAs in cancer. The drugs Adcirca and Adempas have been mentioned in the context of this disorder. Affiliated tissues include Lung, heart and lung, and related phenotypes are cardiovascular system and muscle

CDC : 3 Pulmonary hypertension occurs when the pressure in the blood vessels leading from the heart to the lungs is too high. The heart pumps blood from the right ventricle to the lungs to get oxygen. Because the blood does not have to travel very far, the pressure in this side of the heart and in the artery taking blood from the right ventricle to the lungs is normally low—normally much lower than systolic or diastolic blood pressure. When the pressure in this artery gets too high, the arteries in the lungs can narrow and then the blood does not flow as well as it should resulting in less oxygen in the blood.1

Disease Ontology : 12 A chronic pulmonary heart disease characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein, or pulmonary capillaries, among others, has symptoms shortness of breath, dizziness, fainting, leg swelling.

PubMed Health : 63 About pulmonary hypertension: Pulmonary hypertension (PULL-mun-ary HI-per-TEN-shun), or PH, is increased pressure in the pulmonary arteries. These arteries carry blood from your heart to your lungs to pick up oxygen.PH causes symptoms such as shortness of breath during routine activity (for example, climbing two flights of stairs), tiredness, chest pain, and a racing heartbeat. As the condition worsens, its symptoms may limit all physical activity.

Wikipedia : 76 Pulmonary hypertension (PH or PHTN) is a condition of increased blood pressure within the arteries of... more...

Related Diseases for Pulmonary Hypertension

Diseases in the Pulmonary Hypertension family:

Pulmonary Hypertension, Primary, 1 Pulmonary Hypertension, Primary, Autosomal Recessive
Pulmonary Hypertension, Primary, 2 Pulmonary Hypertension, Primary, 3
Pulmonary Hypertension, Primary, 4

Diseases related to Pulmonary Hypertension via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 463)
# Related Disease Score Top Affiliating Genes
1 pulmonary hypertension, primary, 1 35.7 ACVRL1 BMPR2 ENG FOXF1 KCNK3
2 chronic thromboembolic pulmonary hypertension 35.5 BMPR2 EDN1 NPPB
3 pulmonary venoocclusive disease 34.4 ACVRL1 BMPR2 KCNK3
4 persistent fetal circulation syndrome 34.2 EDN1 FOXF1 PDE5A
5 heritable pulmonary arterial hypertension 33.7 ACVRL1 BMPR2 CAV1 ENG KCNK3
6 eisenmenger syndrome 33.5 BMPR2 EDN1
7 heart disease 31.8 ADM BMPR2 EDN1 MIR21 NPPB PDE5A
8 arteriovenous malformation 31.7 ACVRL1 BMPR2 ENG
9 vascular disease 31.6 ACVRL1 BMPR2 EDN1 ENG MIR21
10 congestive heart failure 31.4 ADM EDN1 NPPB
11 chronic pulmonary heart disease 31.3 ACVRL1 BMPR2 EDN1 SLC6A4
12 pulmonary arteriovenous malformation 31.2 ACVRL1 ENG
13 connective tissue disease 31.1 ACVRL1 BMPR2 EDN1
14 arteries, anomalies of 31.1 ACVRL1 EDN1 NPPB
15 chronic mountain sickness 30.8 EDN1 NPPB
16 myocardial infarction 30.8 ADM EDN1 ENG MIR21 NPPB PDE5A
17 hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome 12.5
18 pulmonary hypertension, primary, 4 12.3
19 pulmonary hypertension, primary, 2 12.3
20 pulmonary hypertension, primary, 3 12.3
21 pulmonary hypertension, neonatal 12.3
22 pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis 12.3
23 vater-like defects with pulmonary hypertension, laryngeal webs, and growth deficiency 12.0
24 pulmonary hypertension, primary, autosomal recessive 11.9
25 alveolar capillary dysplasia with misalignment of pulmonary veins 11.6
26 pulmonary edema of mountaineers 11.6
27 lymphedema and cerebral arteriovenous anomaly 11.5
28 alveolar capillary dysplasia 11.4
29 pulmonary fibrosis, idiopathic 11.4
30 pulmonary venoocclusive disease 2, autosomal recessive 11.3
31 cantu syndrome 11.3
32 hypoxia 11.3
33 diaphragmatic hernia, congenital 11.2
34 telangiectasis 11.2 ACVRL1 BMPR2 ENG
35 patent ductus arteriosus 1 11.2
36 telangiectasia, hereditary hemorrhagic, type 1 11.2 ACVRL1 ENG
37 pulmonary vein stenosis 11.2
38 pulmonary venoocclusive disease 1, autosomal dominant 11.2
39 idiopathic edema 11.2 ADM EDN1 NPPB
40 adams-oliver syndrome 1 11.2
41 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema 11.2
42 adams-oliver syndrome 11.2
43 unilateral absence of a pulmonary artery 11.2
44 renal hypertension 11.2 ADM EDN1 NPPB
45 rowley-rosenberg syndrome 11.1
46 arthrogryposis, distal, type 5 11.0
47 ventricular septal defect 1 11.0
48 ventricular septal defect 2 11.0
49 ventricular septal defect 3 11.0
50 psychosexual disorder 11.0 PDE5A SLC6A4

Graphical network of the top 20 diseases related to Pulmonary Hypertension:



Diseases related to Pulmonary Hypertension

Symptoms & Phenotypes for Pulmonary Hypertension

UMLS symptoms related to Pulmonary Hypertension:


angina pectoris, chest pain, coughing, edema, hemoptysis, snoring, dyspnea

MGI Mouse Phenotypes related to Pulmonary Hypertension:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.81 ENG FOXF1 KCNK3 SLC6A4 ACVRL1 ADM
2 muscle MP:0005369 9.56 FOXF1 SLC6A4 ACVRL1 ADM BMPR2 CAV1
3 respiratory system MP:0005388 9.17 ENG FOXF1 KCNK3 ACVRL1 ADM BMPR2

Drugs & Therapeutics for Pulmonary Hypertension

PubMedHealth treatment related to Pulmonary Hypertension: 63

Pulmonary hypertension (PH) has no cure. However, treatment may help relieve symptoms and slow the progress of the disease.PH is treated with medicines, procedures, and other therapies. Treatment will depend on what type of PH you have and its severity. (For more information, go to "Types of Pulmonary Hypertension.")

FDA approved drugs:

(show all 7)
# Drug Name Active Ingredient(s) 18 Company Approval Date
1
Adcirca 18 TADALAFIL Eli Lilly May 2009
2
Adempas 18 RIOCIGUAT Bayer Healthcare Pharmaceuticals October 2013
3
Letairis 18 AMBRISENTAN Gilead June 2007
4
Opsumit 18 MACITENTAN Actelion Pharmaceuticals October 2013
5
Remodulin 18 TREPROSTINIL United Therapeutics May 2002
6
Tracleer 18 BOSENTAN Actelion November 2001
7
Tyvaso 18 TREPROSTINIL United Therapeutics July 2009

Drugs for Pulmonary Hypertension (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 398)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bosentan Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 147536-97-8 104865
2
Iloprost Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 78919-13-8 6443959
3
Spironolactone Approved Phase 4,Phase 1,Phase 2,Not Applicable 1952-01-7, 52-01-7 5833
4
Iron Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 7439-89-6 23925
5
Epoprostenol Approved Phase 4,Phase 3,Phase 2,Not Applicable 61849-14-7, 35121-78-9 5280427 5282411
6
Tadalafil Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 171596-29-5 110635
7
Treprostinil Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 81846-19-7 54786 6918140
8
Nitric Oxide Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 10102-43-9 145068 160954
9
Benzocaine Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 1994-09-7, 94-09-7 2337
10
Macitentan Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 441798-33-0
11
Warfarin Approved Phase 4,Phase 2 81-81-2 6691 54678486
12
Lidocaine Approved, Vet_approved Phase 4,Phase 1 137-58-6 3676
13
Ranolazine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 142387-99-3, 95635-55-5 56959
14
Dalteparin Approved Phase 4,Phase 3 9005-49-6
15
Heparin Approved, Investigational Phase 4,Phase 3 9005-49-6 772 46507594
16
Isoflurane Approved, Vet_approved Phase 4 26675-46-7 3763
17
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
18
Clevidipine Approved, Investigational Phase 4 167221-71-8
19
Magnesium oxide Approved Phase 4 1309-48-4 14792
20
Zinc Approved, Investigational Phase 4,Not Applicable 7440-66-6 23994
21
Silver sulfadiazine Approved, Vet_approved Phase 4 22199-08-2 441244
22
Acetazolamide Approved, Vet_approved Phase 4,Phase 2,Phase 3 59-66-5 1986
23 Poractant alfa Approved Phase 4,Phase 3 129069-19-8
24 Selexipag Approved Phase 4,Phase 3,Phase 2 475086-01-2
25
Ibuprofen Approved Phase 4,Phase 3,Not Applicable 15687-27-1 3672
26
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
27
Nebivolol Approved, Investigational Phase 4 152520-56-4, 99200-09-6, 118457-14-0 71301
28
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
29
Morphine Approved, Investigational Phase 4,Phase 2 57-27-2 5288826
30
Citric Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 77-92-9 311
31 tannic acid Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Not Applicable
32
Serine Approved, Nutraceutical Phase 4,Phase 1 56-45-1 5951
33 Tezosentan Investigational Phase 4,Phase 3,Phase 2,Not Applicable 180384-57-0
34
Lactitol Investigational Phase 4 585-86-4 3871
35 Antihypertensive Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
36 Endothelin Receptor Antagonists Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
37 Phosphodiesterase 5 Inhibitors Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
38 Phosphodiesterase Inhibitors Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
39 Sildenafil Citrate Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 171599-83-0
40 Vasodilator Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
41 Platelet Aggregation Inhibitors Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
42 diuretics Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
43 Diuretics, Potassium Sparing Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
44 Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable
45 Hormones Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable
46 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable
47 Mineralocorticoid Receptor Antagonists Phase 4,Phase 1,Phase 2,Not Applicable
48 Mineralocorticoids Phase 4,Phase 1,Phase 2,Not Applicable
49 Natriuretic Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
50 Sodium Channel Blockers Phase 4,Phase 3,Phase 1,Not Applicable

Interventional clinical trials:

(show top 50) (show all 1078)
# Name Status NCT ID Phase Drugs
1 Comparison of Efficacy Different Treatment Regimens in Pulmonary Hypertension Secondary to Lung Disease and or Hypoxia Unknown status NCT01449253 Phase 4 Sildenafil;Bosentan
2 Inhaled Iloprost for Disproportionate Pulmonary Hypertension in Chronic Obstructive Pulmonary Disease (COPD) Unknown status NCT01116063 Phase 4 Inhaled iloprost
3 Bosentan in Pulmonary Hypertension in Interstitial Lung Disease Treatment Study Unknown status NCT00637065 Phase 4 Bosentan;Placebo
4 Effects of Spironolactone on Collagen Metabolism in Patients With Pulmonary Arterial Hypertension Unknown status NCT01468571 Phase 4 Spironolactone;Placebo
5 Iron Deficiency In Pulmonary Hypertension Unknown status NCT01288651 Phase 4 Ferricarboxymaltose
6 Vardenafil as add-on Therapy for Patients With Pulmonary Hypertension Treated With Inhaled Iloprost Unknown status NCT01649739 Phase 4 Levitra
7 Long Acting Phosphodiesterase 5 Inhibitors as Add-on Therapy for Patients With Pulmonary Hypertension Treated With Prostanoids. Unknown status NCT00705588 Phase 4 Tadalafil;Vardenafil
8 Low Dose Prolonged Infusion of Tissue Type Plasminogen Activator Therapy in Massive Pulmonary Embolism Unknown status NCT02029456 Phase 4 25 mg Actilyse ( Boehringer Ingelheim, Germany) infusion in 6 hours
9 Hemodynamic Response After Six Months of Sildenafil Unknown status NCT00483626 Phase 4 oral sildenafil
10 Effect of BMPR-2 Gene Mutations on Hemodynamic Response by Iloprost Inhalation in Pulmonary Arterial Hypertension Unknown status NCT01054105 Phase 4 Iloprost
11 Evaluation of Sildenafil for the Treatment of Moderate Congestive Heart Failure Unknown status NCT00793338 Phase 4 Sildenafil
12 Hypotonic Treprostinil Subcutaneous Infusion for Control of Treprostinil Related Site Pain Unknown status NCT01615627 Phase 4 HypotonicTreprostinil Solution;Eutonic Treprostinil Solution
13 PDEI Following Mitral Valve Surgery in Patients With Pulmonary Hypertension Completed NCT02378649 Phase 4 Sildenafil;Placebo
14 Study of Ranolazine in the Treatment of Pulmonary Hypertension Associated With Diastolic Left Ventricular Dysfunction Completed NCT02133352 Phase 4 Ranolazine
15 VasoREACTivity Testing With Intravenous SILdenafil in Patients With Precapillary Pulmonary Hypertension Completed NCT01889966 Phase 4 Sildenafil
16 Study of Sildenafil Effects in Combination With Rehabilitation in Patients With Chronic Obstructive Pulmonary Disease (COPD) and Associated Pulmonary Hypertension Completed NCT01055405 Phase 4 Sildenafil
17 Natrecor for Pulmonary Hypertension in Lung Transplants Completed NCT00205426 Phase 4 Natrecor
18 Exercise Induced Pulmonary Hypertension in Systemic Sclerosis and Treatment With Ambrisentan Completed NCT01051960 Phase 4 Ambrisentan
19 Oral Sildenafil in Persistent Pulmonary Hypertension Secondary to Meconium Aspiration Syndrome in Newborns Completed NCT01757782 Phase 4 Oral Sildenafil;Placebo (distilled water)
20 Sildenafil for Secondary Pulmonary Hypertension Due to Valvular Disease Completed NCT00862043 Phase 4 Sildenafil Citrate;Placebo
21 Comparison of Thrombgolytic and Anticoagulation Therapy in Submassive Pulmonary Embolism Completed NCT02132689 Phase 4 Actilyse (Thrombolytic therapy);Heparine (Standard anticoagulation therapy)
22 Safely Change From Bosentan to Ambrisentan in Pulmonary Hypertension Completed NCT01330108 Phase 4 ambrisentan
23 Sildenafil Effects on Pulmonary Haemodynamics and Gas Exchange in Chronic Obstructive Pulmonary Disease (COPD) Completed NCT00491803 Phase 4 Sildenafil;Sildenafil
24 Inhaled Iloprost for Sarcoidosis-associated Pulmonary Hypertension Completed NCT00403650 Phase 4 Iloprost
25 Measuring Outcomes In Patients With Pulmonary Arterial Hypertension Not on Active Treatment (MOTION) Completed NCT02191137 Phase 4 Riociguat (Adempas, BAY63-2521)
26 Phase IV Study of Chronic Infusional Epoprostenol for Severe Primary Pulmonary Hypertension Completed NCT00004754 Phase 4 epoprostenol
27 Efficacy of Beraprost in Lowering Pulmonary Arterial Pressure in Children Completed NCT03431649 Phase 4 Beraprost Sodium;Sildenafil Citrate
28 Characterization of LV Strain Patterns in Mildly Elevated PCWP and PAH. Completed NCT01800292 Phase 4 sildenafil
29 Safety, Efficacy and Treatment Satisfaction in Patients With PAH Rapidly Switched From Epoprostenol to Remodulin Completed NCT00373360 Phase 4 treprostinil sodium
30 Inhaled Nitric Oxide and Inhaled Prostacyclin After Cardiac Surgery for Heart Transplant or LVAD Placement Completed NCT01717209 Phase 4 Nitric Oxide;Prostacyclin
31 Effects of Propofol and Isoflurane on Pulmonary Vascular Resistance Completed NCT01212523 Phase 4 propofol and isoflurane
32 Evaluate Effect of Optison on Pulmonary Artery Systolic Pressure (PASP) and Pulmonary Vascular Resistance (PVR). Completed NCT00878878 Phase 4 Optison (Perflutren Protein-Type A Microspheres Injectable Suspension);Dextrose
33 A Transition Study From Flolan® to Remodulin® in Patients With Pulmonary Arterial Hypertension Completed NCT00058929 Phase 4 treprostinil sodium
34 Efficacy Study of Riociguat and Its Effects on Exercise Performance and Pulmonary Artery Pressure at High Altitude Completed NCT02024386 Phase 4 Riociguat
35 BREATHE 5-OL: Tracleer (Bosentan) in Patients With Pulmonary Arterial Hypertension Related to Eisenmenger Physiology Completed NCT00367770 Phase 4 Tracleer®
36 Effects of Viagra on Heart Function in Patients With Heart Failure Completed NCT00781508 Phase 4 sildenafil
37 Clevidipine for Vasoreactivity Evaluation of the Pulmonary Arterial Bed Completed NCT01121458 Phase 4 Clevidipine
38 Transition From Injectable Prostacyclin Medication to Inhaled Prostacyclin Medication Completed NCT01268553 Phase 4 Treprostinil
39 Acute Hemodynamic Effects of Sildenafil in Patients With Severe Aortic Stenosis Completed NCT01060020 Phase 4 Sildenafil
40 Safety and Tolerability of Rapid Dose Titration of Subcutaneous Remodulin® Therapy in PAH Subjects (RAPID) Completed NCT02847260 Phase 4 Remodulin
41 Effect of Tadalafil on Insulin Secretion and Insulin Sensitivity in Obese Men. Completed NCT02595684 Phase 4 Tadalafil;Placebo
42 Nebulized Heparin and Salbutamol in Mechanically Ventilated Patients With AECOPD Completed NCT03333395 Phase 4 Nebulized heparin and salbutamol;Nebulized salbutamol
43 Acute Effect of Pulmonary Desufflation on Cardiac Performance in COPD Patients Completed NCT01996124 Phase 4 Indacaterol Fumarate;Placebo
44 Effects of the Combination of Bosentan and Sildenafil Versus Sildenafil Monotherapy on Pulmonary Arterial Hypertension (PAH) Completed NCT00303459 Phase 4 bosentan;placebo
45 Safety Evaluation of Inhaled Treprostinil Administration Following Transition From Inhaled Ventavis in Pulmonary Arterial Hypertension (PAH) Subjects Completed NCT00741819 Phase 4 Inhaled treprostinil
46 Study of Add-on Ambrisentan Therapy to Background Phosphodiesterase Type-5 Inhibitor (PDE5i) Therapy in Pulmonary Arterial Hypertension (ATHENA-1) Completed NCT00617305 Phase 4 Ambrisentan;Placebo;Sildenafil;Tadalafil
47 A Clinical Trial of Ambrisentan and Tadalafil in Pulmonary Arterial Hypertension Associated With Systemic Sclerosis Completed NCT01042158 Phase 4 tadalafil and ambrisentan upfront combination therapy
48 Assess the Efficacy and Safety of Sildenafil When Added to Bosentan in the Treatment of Pulmonary Arterial Hypertension Completed NCT00323297 Phase 4 Bosentan;Bosentan;Sildenafil Citrate
49 Effects of Tracleer (Bosentan) on Pulmonary Arterial Hypertension Related to Eisenmenger Physiology Completed NCT00317486 Phase 4 bosentan
50 TRUST-2: Safety and Efficacy of Intravenous Remodulin® in Patients in India With Pulmonary Arterial Hypertension (PAH) Completed NCT03055221 Phase 4 Intravenous Treprostinil

Search NIH Clinical Center for Pulmonary Hypertension

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Pulmonary Hypertension cell therapies at LifeMap Discovery.

Cochrane evidence based reviews: hypertension, pulmonary

Genetic Tests for Pulmonary Hypertension

Genetic tests related to Pulmonary Hypertension:

# Genetic test Affiliating Genes
1 Primary Pulmonary Hypertension 29 BMPR2

Anatomical Context for Pulmonary Hypertension

MalaCards organs/tissues related to Pulmonary Hypertension:

41
Heart, Lung, Endothelial, Testes, Smooth Muscle, Brain, Liver
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Pulmonary Hypertension:
# Tissue Anatomical CompartmentCell Relevance
1 Lung Pulmonary Capillary Plexus Affected by disease

Publications for Pulmonary Hypertension

Articles related to Pulmonary Hypertension:

(show top 50) (show all 3567)
# Title Authors Year
1
Balloon Pulmonary Angioplasty for Inoperable Patients With Chronic Thromboembolic Pulmonary Hypertension. Observational Study in a Referral Unit. ( 29857972 )
2018
2
Sequential Hybrid Therapy With Pulmonary Endarterectomy and Additional Balloon Pulmonary Angioplasty for Chronic Thromboembolic Pulmonary Hypertension. ( 29929993 )
2018
3
Prevalence and impact of WHO group 3 pulmonary hypertension in advanced idiopathic nonspecific interstitial pneumonia. ( 29773690 )
2018
4
Impact of Balloon Pulmonary Angioplasty on Hemodynamics and Clinical Outcomes in Patients with Chronic Thromboembolic Pulmonary Hypertension: the Initial Korean Experience. ( 29318791 )
2018
5
Approach to Pulmonary Hypertension: From CT to Clinical Diagnosis. ( 29432063 )
2018
6
Balloon Pulmonary Angioplasty Relieves Hemodynamic Stress towards Untreated-Side Pulmonary Vasculature and Ameliorates Its Resistance in Patients with Chronic Thromboembolic Pulmonary Hypertension. ( 29360065 )
2018
7
Neopterin as a Biomarker in Patients with Pulmonary Arterial Hypertension and Chronic Thromboembolic Pulmonary Hypertension. ( 29909420 )
2018
8
Vascular endothelial growth factor and pulmonary hypertension in children with beta thalassemia major. ( 29859904 )
2018
9
Pulmonary Hypertension Related to Chronic Obstructive Pulmonary Disease and Diffuse Parenchymal Lung Disease: A Focus on Right Ventricular (Dys)Function. ( 29966637 )
2018
10
Epidemiology and risk factors for chronic thromboembolic pulmonary hypertension. ( 29338883 )
2018
11
Use of direct oral anticoagulants for chronic thromboembolic pulmonary hypertension. ( 29791520 )
2018
12
Bosentan Therapy for Pulmonary Arterial Hypertension and Chronic Thromboembolic Pulmonary Hypertension: A Systemic Review and Meta-Analysis. ( 29393580 )
2018
13
Pulmonary Hypertension in Aortic and Mitral Valve Disease. ( 29876357 )
2018
14
Severe Compression of the Left Main Coronary Artery in a Patient with Chronic Thromboembolic Pulmonary Hypertension. ( 29321385 )
2018
15
Screening for pulmonary hypertension in interstitial lung disease: Many reasons to ECHO! ( 29415370 )
2018
16
Poor Subpleural Perfusion Predicts Failure After Balloon Pulmonary Angioplasty for Nonoperable Chronic Thromboembolic Pulmonary Hypertension. ( 29730328 )
2018
17
Macitentan in pulmonary hypertension due to left ventricular dysfunction. ( 29437943 )
2018
18
MRI-derived Regional Biventricular Function in Patients with Chronic Thromboembolic Pulmonary Hypertension Before and After Pulmonary Endarterectomy. ( 29730148 )
2018
19
Perioperative events in children with pulmonary hypertension undergoing non-cardiac procedures. ( 28971729 )
2018
20
Biomarkers in Pulmonary Hypertension. ( 29966636 )
2018
21
Pulmonary Hypertension in Glycogen Storage Disease Type II. ( 29786057 )
2018
22
Impact of histologic chorioamnionitis on pulmonary hypertension and respiratory outcomes in preterm infants. ( 29480140 )
2018
23
Haemodynamics to predict outcome in pulmonary hypertension due to left heart disease: a meta-analysis. ( 29439019 )
2018
24
Usefulness of scoring right ventricular function for assessment of prognostic factors in patients with chronic thromboembolic pulmonary hypertension. ( 29704099 )
2018
25
Twist1 in Hypoxia-induced Pulmonary Hypertension through Transforming Growth Factor-I^-Smad Signaling. ( 28915063 )
2018
26
Will we be singing a different tune on combined post- and pre-capillary pulmonary hypertension? ( 29437950 )
2018
27
Surgery for partial atrioventricular septal defect with pulmonary hypertension in an adult dog. ( 29877312 )
2018
28
Severe Pulmonary Hypertension Due to Adult-Onset Still's Disease. ( 29468168 )
2018
29
Lethal persistent pulmonary hypertension of the newborn in Bohring-Opitz syndrome. ( 29681105 )
2018
30
Persistent Pulmonary Hypertension and Histologic Chorioamnionitis in Preterm Infants: Controlled Study. ( 29453682 )
2018
31
NTproBNP as a surrogate biomarker for early screening of pulmonary hypertension in preterm infants with bronchopulmonary dysplasia. ( 29977013 )
2018
32
Coping, social support and information in patients with pulmonary arterial hypertension or chronic thromboembolic pulmonary hypertension: A 2-year retrospective cohort study. ( 29326818 )
2018
33
Invasive and Noninvasive Evaluation for the Diagnosis of Pulmonary Hypertension: How to Use and How to Combine Them. ( 29966633 )
2018
34
Hemodynamic Mechanisms of Exercise-Induced Pulmonary Hypertension inA Patients with Lymphangioleiomyomatosis: The Role of Exercise Stress Echocardiography. ( 29605474 )
2018
35
Acute hemodynamic changes by breathing hypoxic and hyperoxic gas mixtures in pulmonary arterial and chronic thromboembolic pulmonary hypertension. ( 29891241 )
2018
36
Macitentan reduces progression of TGF-I^1-induced pulmonary fibrosis and pulmonary hypertension. ( 29976656 )
2018
37
A Case of Pulmonary Hypertension Associated with Idiopathic Hypereosinophilic Syndrome. ( 29794385 )
2018
38
Renin-angiotensin system regulates pulmonary arterial smooth muscle cell migration in chronic thromboembolic pulmonary hypertension. ( 29122755 )
2018
39
Clinical characteristics in lymphangioleiomyomatosis-related pulmonary hypertension: an observation on 50 patients. ( 29675687 )
2018
40
Surrogate Endpoints for Pulmonary Hypertension Management and Trial Design: Moving in the Right Direction. ( 29447738 )
2018
41
Chronic thromboembolic pulmonary hypertension: Reversal of pulmonary hypertension but not sleep disordered breathing following pulmonary endarterectomy. ( 29776563 )
2018
42
Incidence and characteristics of chronic thromboembolic pulmonary hypertension in Germany. ( 29450722 )
2018
43
Plasma levels of high density lipoprotein cholesterol and outcomes in chronic thromboembolic pulmonary hypertension. ( 29813091 )
2018
44
Sequential treatment with riociguat and balloon pulmonary angioplasty for patients with inoperable chronic thromboembolic pulmonary hypertension. ( 29939102 )
2018
45
Pulmonary hypertension and pulmonary vascular disease: course report. ( 29928464 )
2018
46
Definition and Management of Segmental Pulmonary Hypertension. ( 29973393 )
2018
47
Pulmonary Hypertension, Mortality, and Cardiovascular Disease in CKD and ESRD Patients: A Systematic Review and Meta-analysis. ( 29429751 )
2018
48
Successful treatment of severe combined post- and pre-capillary pulmonary hypertension in a patient with idiopathic restrictive cardiomyopathy. ( 29575985 )
2018
49
Fibrosing mediastinitis with pulmonary hypertension as a complication of pulmonary vein stenosis: A case report and review of the literature. ( 29369193 )
2018
50
Early Introduction ofA Pulmonary Endarterectomy or Balloon Pulmonary Angioplasty Contributes to Better Health-Related Quality of Life in Patients WithA Chronic Thromboembolic Pulmonary Hypertension. ( 29880110 )
2018

Variations for Pulmonary Hypertension

ClinVar genetic disease variations for Pulmonary Hypertension:

6
(show top 50) (show all 1283)
# Gene Variation Type Significance SNP ID Assembly Location
1 BMPR2 BMPR2, 1-BP DEL, 2579T deletion Pathogenic
2 BMPR2 NM_001204.6(BMPR2): c.2695C> T (p.Arg899Ter) single nucleotide variant Pathogenic rs137852741 GRCh37 Chromosome 2, 203421083: 203421083
3 BMPR2 NM_001204.6(BMPR2): c.2695C> T (p.Arg899Ter) single nucleotide variant Pathogenic rs137852741 GRCh38 Chromosome 2, 202556360: 202556360
4 BMPR2 NM_001204.6(BMPR2): c.218C> G (p.Ser73Ter) single nucleotide variant Pathogenic rs137852742 GRCh37 Chromosome 2, 203329673: 203329673
5 BMPR2 NM_001204.6(BMPR2): c.218C> G (p.Ser73Ter) single nucleotide variant Pathogenic rs137852742 GRCh38 Chromosome 2, 202464950: 202464950
6 BMPR2 BMPR2, 1-BP DEL, 355A deletion Pathogenic
7 BMPR2 NM_001204.6(BMPR2): c.354T> G (p.Cys118Trp) single nucleotide variant Pathogenic rs137852743 GRCh37 Chromosome 2, 203332348: 203332348
8 BMPR2 NM_001204.6(BMPR2): c.354T> G (p.Cys118Trp) single nucleotide variant Pathogenic rs137852743 GRCh38 Chromosome 2, 202467625: 202467625
9 BMPR2 NM_001204.6(BMPR2): c.1040G> A (p.Cys347Tyr) single nucleotide variant Pathogenic rs137852744 GRCh37 Chromosome 2, 203395589: 203395589
10 BMPR2 NM_001204.6(BMPR2): c.1040G> A (p.Cys347Tyr) single nucleotide variant Pathogenic rs137852744 GRCh38 Chromosome 2, 202530866: 202530866
11 BMPR2 NM_001204.6(BMPR2): c.1454A> G (p.Asp485Gly) single nucleotide variant Pathogenic rs137852745 GRCh37 Chromosome 2, 203417479: 203417479
12 BMPR2 NM_001204.6(BMPR2): c.1454A> G (p.Asp485Gly) single nucleotide variant Pathogenic rs137852745 GRCh38 Chromosome 2, 202552756: 202552756
13 BMPR2 NM_001204.6(BMPR2): c.1471C> T (p.Arg491Trp) single nucleotide variant Pathogenic rs137852746 GRCh37 Chromosome 2, 203417496: 203417496
14 BMPR2 NM_001204.6(BMPR2): c.1471C> T (p.Arg491Trp) single nucleotide variant Pathogenic rs137852746 GRCh38 Chromosome 2, 202552773: 202552773
15 BMPR2 BMPR2, 5-BP DEL, NT1099 deletion Pathogenic
16 BMPR2 NM_001204.6(BMPR2): c.507C> A (p.Cys169Ter) single nucleotide variant Pathogenic rs137852747 GRCh37 Chromosome 2, 203378530: 203378530
17 BMPR2 NM_001204.6(BMPR2): c.507C> A (p.Cys169Ter) single nucleotide variant Pathogenic rs137852747 GRCh38 Chromosome 2, 202513807: 202513807
18 BMPR2 NM_001204.6(BMPR2): c.2617C> T (p.Arg873Ter) single nucleotide variant Pathogenic rs137852748 GRCh37 Chromosome 2, 203421005: 203421005
19 BMPR2 NM_001204.6(BMPR2): c.2617C> T (p.Arg873Ter) single nucleotide variant Pathogenic rs137852748 GRCh38 Chromosome 2, 202556282: 202556282
20 BMPR2 NM_001204.6(BMPR2): c.1472G> A (p.Arg491Gln) single nucleotide variant Pathogenic rs137852749 GRCh37 Chromosome 2, 203417497: 203417497
21 BMPR2 NM_001204.6(BMPR2): c.1472G> A (p.Arg491Gln) single nucleotide variant Pathogenic rs137852749 GRCh38 Chromosome 2, 202552774: 202552774
22 BMPR2 BMPR2, 2-BP DEL, 1-BP INS, NT690 indel Pathogenic
23 BMPR2 NM_001204.6(BMPR2): c.367T> C (p.Cys123Arg) single nucleotide variant Pathogenic rs137852750 GRCh37 Chromosome 2, 203332361: 203332361
24 BMPR2 NM_001204.6(BMPR2): c.367T> C (p.Cys123Arg) single nucleotide variant Pathogenic rs137852750 GRCh38 Chromosome 2, 202467638: 202467638
25 BMPR2 NM_001204.6(BMPR2): c.367T> A (p.Cys123Ser) single nucleotide variant Pathogenic rs137852750 GRCh37 Chromosome 2, 203332361: 203332361
26 BMPR2 NM_001204.6(BMPR2): c.367T> A (p.Cys123Ser) single nucleotide variant Pathogenic rs137852750 GRCh38 Chromosome 2, 202467638: 202467638
27 BMPR2 NM_001204.6(BMPR2): c.994C> T (p.Arg332Ter) single nucleotide variant Pathogenic rs137852751 GRCh37 Chromosome 2, 203395543: 203395543
28 BMPR2 NM_001204.6(BMPR2): c.994C> T (p.Arg332Ter) single nucleotide variant Pathogenic rs137852751 GRCh38 Chromosome 2, 202530820: 202530820
29 BMPR2 NM_001204.6(BMPR2): c.2696G> C (p.Arg899Pro) single nucleotide variant Pathogenic rs137852752 GRCh37 Chromosome 2, 203421084: 203421084
30 BMPR2 NM_001204.6(BMPR2): c.2696G> C (p.Arg899Pro) single nucleotide variant Pathogenic rs137852752 GRCh38 Chromosome 2, 202556361: 202556361
31 BMPR2 NM_001204.6(BMPR2): c.631C> T (p.Arg211Ter) single nucleotide variant Pathogenic rs137852753 GRCh37 Chromosome 2, 203383554: 203383554
32 BMPR2 NM_001204.6(BMPR2): c.631C> T (p.Arg211Ter) single nucleotide variant Pathogenic rs137852753 GRCh38 Chromosome 2, 202518831: 202518831
33 BMPR2 NM_001204.6(BMPR2): c.44delC (p.Pro15Hisfs) deletion Pathogenic rs483352902 GRCh37 Chromosome 2, 203242241: 203242241
34 BMPR2 NM_001204.6(BMPR2): c.44delC (p.Pro15Hisfs) deletion Pathogenic rs483352902 GRCh38 Chromosome 2, 202377518: 202377518
35 BMPR2 NM_001204.6(BMPR2): c.77-?_247+?del (p.A26_Q82del) deletion Pathogenic GRCh37 Chromosome 2, 203329532: 203329702
36 BMPR2 NM_001204.6(BMPR2): c.77-?_247+?del (p.A26_Q82del) deletion Pathogenic GRCh38 Chromosome 2, 202464809: 202464979
37 BMPR2 BMPR2, EX10DEL deletion Pathogenic
38 BMPR2 BMPR2, EX1-13DEL deletion Pathogenic
39 BMPR2 NM_001204.6(BMPR2): c.1297C> T (p.Gln433Ter) single nucleotide variant Pathogenic rs137852756 GRCh37 Chromosome 2, 203407054: 203407054
40 BMPR2 NM_001204.6(BMPR2): c.1297C> T (p.Gln433Ter) single nucleotide variant Pathogenic rs137852756 GRCh38 Chromosome 2, 202542331: 202542331
41 KCNK3 NM_002246.2(KCNK3): c.608G> A (p.Gly203Asp) single nucleotide variant Pathogenic rs398123039 GRCh37 Chromosome 2, 26950859: 26950859
42 KCNK3 NM_002246.2(KCNK3): c.608G> A (p.Gly203Asp) single nucleotide variant Pathogenic rs398123039 GRCh38 Chromosome 2, 26727991: 26727991
43 ENG NM_000118.3(ENG): c.640G> A (p.Gly214Ser) single nucleotide variant Uncertain significance rs150932144 GRCh37 Chromosome 9, 130588023: 130588023
44 ENG NM_000118.3(ENG): c.640G> A (p.Gly214Ser) single nucleotide variant Uncertain significance rs150932144 GRCh38 Chromosome 9, 127825744: 127825744
45 BMPR2 NM_001204.6(BMPR2): c.600A> C (p.Leu200=) single nucleotide variant Benign/Likely benign rs55722784 GRCh37 Chromosome 2, 203379681: 203379681
46 BMPR2 NM_001204.6(BMPR2): c.600A> C (p.Leu200=) single nucleotide variant Benign/Likely benign rs55722784 GRCh38 Chromosome 2, 202514958: 202514958
47 KCNA5 NM_002234.3(KCNA5): c.633G> C (p.Glu211Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs35853292 GRCh37 Chromosome 12, 5153946: 5153946
48 KCNA5 NM_002234.3(KCNA5): c.633G> C (p.Glu211Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs35853292 GRCh38 Chromosome 12, 5044780: 5044780
49 BMPR2 NM_001204.6(BMPR2): c.295T> C (p.Cys99Arg) single nucleotide variant Pathogenic rs863223425 GRCh37 Chromosome 2, 203332289: 203332289
50 BMPR2 NM_001204.6(BMPR2): c.295T> C (p.Cys99Arg) single nucleotide variant Pathogenic rs863223425 GRCh38 Chromosome 2, 202467566: 202467566

Expression for Pulmonary Hypertension

Search GEO for disease gene expression data for Pulmonary Hypertension.

Pathways for Pulmonary Hypertension

Pathways related to Pulmonary Hypertension according to KEGG:

37
# Name Kegg Source Accession
1 TGF-beta signaling pathway hsa04350

Pathways related to Pulmonary Hypertension according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.93 BMPR2 MIR20A MIR21 MIR451A
2 10.94 ADM EDN1 ENG
3 10.6 BMPR2 NPPB
4
Show member pathways
10.23 ACVRL1 BMPR2 CAV1

GO Terms for Pulmonary Hypertension

Cellular components related to Pulmonary Hypertension according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.32 ADM BMPR2 EDN1 ENG KCNK3 MIR20A

Biological processes related to Pulmonary Hypertension according to GeneCards Suite gene sharing:

(show all 50)
# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.95 ADM EDN1 ENG FOXF1
2 negative regulation of gene expression GO:0010629 9.95 ACVRL1 ENG MIR20A MIR21
3 response to drug GO:0042493 9.91 CPS1 EDN1 ENG KCNK3 SLC6A4
4 negative regulation of cell growth GO:0030308 9.87 ACVRL1 BMPR2 NPPB
5 negative regulation of cell migration GO:0030336 9.87 ACVRL1 ENG MIR21
6 transforming growth factor beta receptor signaling pathway GO:0007179 9.85 ACVRL1 BMPR2 MIR21
7 regulation of blood pressure GO:0008217 9.82 ACVRL1 EDN1 NPPB
8 cellular response to transforming growth factor beta stimulus GO:0071560 9.77 ACVRL1 CAV1 EDN1
9 BMP signaling pathway GO:0030509 9.76 ACVRL1 BMPR2 ENG MIR21
10 positive regulation of endothelial cell migration GO:0010595 9.74 BMPR2 EDN1 MIR21
11 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.73 ACVRL1 BMPR2 ENG
12 response to hypoxia GO:0001666 9.72 ACVRL1 ADM CAV1 EDN1 SLC6A4
13 negative regulation of stress fiber assembly GO:0051497 9.71 MIR20A MIR21
14 negative regulation of endothelial cell migration GO:0010596 9.71 ACVRL1 MIR21
15 positive regulation of heart rate GO:0010460 9.7 ADM EDN1
16 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.7 ACVRL1 BMPR2
17 cellular response to peptide hormone stimulus GO:0071375 9.7 CAV1 EDN1
18 regulation of the force of heart contraction GO:0002026 9.69 ADM CAV1
19 regulation of blood vessel size GO:0050880 9.69 EDN1 NPPB
20 positive regulation of endothelial cell differentiation GO:0045603 9.68 ACVRL1 MIR21
21 endocardial cushion morphogenesis GO:0003203 9.68 ACVRL1 ENG
22 activin receptor signaling pathway GO:0032924 9.68 ACVRL1 BMPR2
23 positive regulation of renal sodium excretion GO:0035815 9.68 EDN1 NPPB
24 positive regulation of urine volume GO:0035810 9.67 EDN1 NPPB
25 endocardial cushion development GO:0003197 9.67 BMPR2 FOXF1
26 positive regulation of BMP signaling pathway GO:0030513 9.67 ACVRL1 BMPR2 ENG
27 lymphangiogenesis GO:0001946 9.66 ACVRL1 BMPR2
28 response to dexamethasone GO:0071548 9.66 CPS1 EDN1
29 negative regulation of DNA biosynthetic process GO:2000279 9.65 ACVRL1 BMPR2
30 response to transforming growth factor beta GO:0071559 9.64 EDN1 ENG
31 midgut development GO:0007494 9.63 CPS1 FOXF1
32 body fluid secretion GO:0007589 9.63 EDN1 NPPB
33 artery development GO:0060840 9.62 ACVRL1 BMPR2
34 negative regulation of smooth muscle cell apoptotic process GO:0034392 9.62 EDN1 MIR21
35 dorsal aorta morphogenesis GO:0035912 9.61 ACVRL1 ENG
36 retina vasculature development in camera-type eye GO:0061298 9.61 ACVRL1 BMPR2
37 positive regulation of cardiac muscle hypertrophy GO:0010613 9.61 EDN1 MIR21 PDE5A
38 endothelial tube morphogenesis GO:0061154 9.6 ACVRL1 MIR21
39 lymphatic endothelial cell differentiation GO:0060836 9.58 ACVRL1 BMPR2
40 vascular smooth muscle cell development GO:0097084 9.58 ADM ENG
41 positive regulation of vascular associated smooth muscle cell migration GO:1904754 9.58 MIR20A MIR21 MIR451A
42 vasculogenesis GO:0001570 9.56 ADM CAV1 ENG FOXF1
43 positive regulation of vascular smooth muscle cell differentiation GO:1905065 9.55 ENG MIR21
44 positive regulation of angiogenesis GO:0045766 9.55 ACVRL1 ADM ENG MIR20A MIR21
45 negative regulation of vasoconstriction GO:0045906 9.54 ADM BMPR2
46 vasoconstriction GO:0042310 9.54 CAV1 EDN1 SLC6A4
47 negative regulation of chondrocyte proliferation GO:1902731 9.52 BMPR2 MIR21
48 endocardial cushion to mesenchymal transition GO:0090500 9.48 ACVRL1 ENG
49 negative regulation of endothelial cell proliferation GO:0001937 9.26 ACVRL1 CAV1 MIR21 MIR22
50 venous blood vessel development GO:0060841 8.8 ACVRL1 BMPR2 FOXF1

Molecular functions related to Pulmonary Hypertension according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 9.58 ADM EDN1 NPPB
2 transforming growth factor beta binding GO:0050431 9.43 ACVRL1 ENG
3 nitric-oxide synthase binding GO:0050998 9.37 CAV1 SLC6A4
4 obsolete signal transducer, downstream of receptor, with serine/threonine kinase activity GO:0004702 9.32 ACVRL1 BMPR2
5 activin binding GO:0048185 9.26 ACVRL1 ENG
6 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.16 ACVRL1 BMPR2
7 BMP binding GO:0036122 8.96 BMPR2 ENG
8 BMP receptor activity GO:0098821 8.62 ACVRL1 BMPR2

Sources for Pulmonary Hypertension

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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