Pulmonary Alveolar Proteinosis disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: PLM006 MIFTS: 53	Pulmonary Alveolar Proteinosis Categories: Blood diseases, Immune diseases, Rare diseases, Respiratory diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs Expand all tables

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Aliases & Classifications for Pulmonary Alveolar Proteinosis

MalaCards integrated aliases for Pulmonary Alveolar Proteinosis:

Name: Pulmonary Alveolar Proteinosis ¹² ⁷⁴ ³⁶ ²⁹ ⁵⁴ ⁶ ⁴⁴ ¹⁵ ⁷¹

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Respiratory diseases Blood diseases Immune diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:12120

KEGG ³⁶ H00217

ICD9CM ³⁴ 516.0

MeSH ⁴⁴ D011649

NCIt ⁵⁰ C85037

SNOMED-CT ⁶⁷ 10501004

ICD10 ³² J84.01

UMLS ⁷¹ C0034050

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Summaries for Pulmonary Alveolar Proteinosis

KEGG : ³⁶ Pulmonary alveolar proteinosis (PAP) is a rare but potentially treatable disease, characterized by impaired surfactant metabolism that leads to accumulation in the alveoli of proteinaceous material rich in surfactant protein and its component. PAP is classified into 2 main types, congenital and acquired. The acquired form is subdivided into the autoimmune form and the secondary form. The vast majority of PAP occurs as an autoimmune PAP. In autoimmune PAP, patients generate antibodies against the granulocyte macrophage colony stimulating factor (GM-CSF) protein. Whole-lung lavage is the most widely accepted therapy for symptomatic PAP. Recent data suggest that exogenous GM-CSF therapy has potential in the treatment of autoimmune PAP. Congenital PAP is also known as pulmonary surfactant metabolism dysfunction (SMDP).

MalaCards based summary : Pulmonary Alveolar Proteinosis is related to surfactant metabolism dysfunction, pulmonary, 1 and hereditary pulmonary alveolar proteinosis, and has symptoms including hemoptysis An important gene associated with Pulmonary Alveolar Proteinosis is MARS1 (Methionyl-TRNA Synthetase 1), and among its related pathways/superpathways are Innate Immune System and ERK Signaling. The drugs Sargramostim and Molgramostim have been mentioned in the context of this disorder. Affiliated tissues include lung, myeloid and liver, and related phenotypes are hematopoietic system and immune system

Disease Ontology : ¹² A lung disease that is characterized by abnormal accumulation of surfactant occurs within the alveoli, interfering with gas exchange.

Wikipedia : ⁷⁴ Pulmonary alveolar proteinosis (PAP) is a rare lung disorder characterized by an abnormal accumulation... more...

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Related Diseases for Pulmonary Alveolar Proteinosis

Diseases in the Pulmonary Alveolar Proteinosis family:

Pulmonary Alveolar Proteinosis, Acquired	Congenital Pulmonary Alveolar Proteinosis
Hereditary Pulmonary Alveolar Proteinosis	Secondary Pulmonary Alveolar Proteinosis

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

(show top 50) (show all 626)

#	Related Disease	Score	Top Affiliating Genes
1	surfactant metabolism dysfunction, pulmonary, 1	33.1	SFTPC SFTPB
2	hereditary pulmonary alveolar proteinosis	32.9	CSF2RB CSF2RA
3	lipid pneumonia	30.9	SFTPC SFTPB MUC1
4	pulmonary fibrosis	30.7	SFTPD SFTPC SFTPA1 CXCL8 CCL2
5	interstitial pneumonitis, desquamative, familial	30.7	SFTPD SFTPC SFTPB MUC1
6	cryptococcosis	30.7	TNF IL10 CSF2
7	respiratory distress syndrome in premature infants	30.4	SFTPC SFTPB SFTPA1
8	pulmonary tuberculosis	30.4	TNF IL6 IL10 CCL2
9	newborn respiratory distress syndrome	30.3	SFTPD SFTPC SFTPB SFTPA1
10	nonspecific interstitial pneumonia	30.2	SFTPD SFTPC MUC1 CCL2
11	graft-versus-host disease	30.2	TNF IL6 IL10
12	mycobacterium kansasii	30.1	GATA2 CXCL8
13	rheumatoid arthritis interstitial lung disease	30.1	TNF SFTPD MUC1
14	silicosis	30.0	TNF SFTPD IL10 CXCL8 CCL2
15	niemann-pick disease, type c1	30.0	IL10 ABCG1 ABCA1
16	pulmonary sarcoidosis	30.0	TNF SFTPD CSF2 CCL2
17	disease by infectious agent	30.0	TNF SFTPD IL6 IL10
18	cellulitis	30.0	TNF IL6 CSF2
19	acquired immunodeficiency syndrome	30.0	TNF IL6 IL10 CSF2
20	pneumocystosis	29.9	TNF SFTPD MUC1 IL6
21	post-transplant lymphoproliferative disease	29.9	TNF IL6 IL10
22	invasive aspergillosis	29.9	SFTPD IL10 CXCL8
23	respiratory failure	29.9	TNF SFTPD SFTPC SFTPB IL6 IL10
24	autoimmune disease	29.9	TNF IL6 IL10 CXCL8 CSF2 CCL2
25	temporal arteritis	29.9	TNF IL6 CCL2
26	anthracosis	29.9	TNF IL6 CXCL8 CCL2
27	pulmonary edema	29.8	TNF IL10 CXCL8
28	immune deficiency disease	29.8	TNF IL6 IL10 CSF2 CSF1 CCL2
29	myelodysplastic syndrome	29.8	TNF IL6 IL10 GATA2 CXCL8 CSF2
30	extrinsic allergic alveolitis	29.8	SFTPD IL6 IL10 CXCL8 CCL2
31	encephalitis	29.8	TNF IL6 IL10 CCL2
32	idiopathic interstitial pneumonia	29.7	SFTPD SFTPC SFTPB SFTPA1 CXCL8 CCL2
33	end stage renal disease	29.7	TNF IL6 IL10 CCL2
34	pleurisy	29.6	TNF CXCL8 CCL2
35	pneumoconiosis	29.6	TNF IL6 IL10 CXCL8 CCL2
36	neutropenia	29.4	TNF IL6 IL10 CXCL8 CSF2 CSF1
37	bronchiolitis obliterans	29.3	TNF SFTPD IL6 IL10 CXCL8
38	mycoplasma pneumoniae pneumonia	29.3	TNF SFTPD MUC1 IL6 IL10 CSF2
39	acute interstitial pneumonia	29.3	TNF SFTPD SFTPC SFTPB SFTPA1 MUC1
40	vascular disease	29.3	TNF IL6 IL10 CCL2 ABCA1
41	lung disease	29.3	TNF SFTPD SFTPC SFTPB SFTPA1 MUC1
42	cryptogenic organizing pneumonia	29.3	TNF SFTPD SFTPC MUC1 CXCL8
43	leukemia, acute myeloid	29.3	TNF SPI1 IL6 IL10 GATA2 CXCL8
44	hemophagocytic lymphohistiocytosis	29.3	TNF IL10 GATA2 CXCL8 CCL2
45	gastroesophageal reflux	29.3	TNF IL6 CXCL8 CCL2
46	toxic shock syndrome	29.3	TNF IL6 IL10 CXCL8
47	bronchitis	29.2	TNF IL6 IL10 CXCL8
48	ulcerative colitis	29.2	TNF IL6 IL10 CXCL8
49	interstitial lung disease	29.1	TNF SFTPD SFTPC SFTPB MUC1 IL6
50	candidiasis	29.1	TNF IL6 IL10 CXCL8 CSF2

Graphical network of the top 20 diseases related to Pulmonary Alveolar Proteinosis:

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Symptoms & Phenotypes for Pulmonary Alveolar Proteinosis

UMLS symptoms related to Pulmonary Alveolar Proteinosis:

hemoptysis

MGI Mouse Phenotypes related to Pulmonary Alveolar Proteinosis:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	hematopoietic system	MP:0005397	10.03	ABCA1 ABCG1 CSF1 CSF2 CSF2RB GATA2
2	immune system	MP:0005387	9.97	ABCA1 ABCG1 CCL2 CSF1 CSF2 CSF2RB
3	liver/biliary system	MP:0005370	9.56	ABCA1 ABCG1 CSF1 GATA2 IL10 IL6
4	respiratory system	MP:0005388	9.4	ABCA1 ABCG1 CSF1 CSF2 CSF2RB IL10

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Drugs & Therapeutics for Pulmonary Alveolar Proteinosis

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

(show all 33)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Sargramostim

Approved, Investigational

Phase 3

123774-72-1, 83869-56-1

Molgramostim

Investigational

Phase 3

99283-10-0

Autoantibodies

Phase 2, Phase 3

Antibiotics, Antitubercular

Phase 2, Phase 3

Anti-Bacterial Agents

Phase 2, Phase 3

Immunologic Factors

Phase 3

Pharmaceutical Solutions

Phase 3

Methylcobalamin

Approved, Investigational

Phase 1, Phase 2

13422-55-4

Hydroxocobalamin

Approved

Phase 1, Phase 2

13422-51-0

11953898 15589840

Methionine

Approved, Nutraceutical

Phase 1, Phase 2

63-68-3

6137

Folic acid

Approved, Nutraceutical, Vet_approved

Phase 1, Phase 2

59-30-3

6037

Cyanocobalamin

Approved, Nutraceutical

Phase 1, Phase 2

68-19-9

44176380

Cobalamin

Experimental

Phase 1, Phase 2

13408-78-1

6857388

Immunoglobulins

Phase 2

Antibodies

Phase 2

Vitamin B Complex

Phase 1, Phase 2

Micronutrients

Phase 1, Phase 2

Liver Extracts

Phase 1, Phase 2

Hematinics

Phase 1, Phase 2

Vitamin B 12

Phase 1, Phase 2

Trace Elements

Phase 1, Phase 2

Vitamin B12

Phase 1, Phase 2

Vitamins

Phase 1, Phase 2

Folate

Phase 1, Phase 2

Vitamin B9

Phase 1, Phase 2

Nutrients

Phase 1, Phase 2

Pioglitazone

Approved, Investigational

Phase 1

111025-46-8

4829

rituximab

Approved

Phase 1

174722-31-7

10201696

Hypoglycemic Agents

Phase 1

Antineoplastic Agents, Immunological

Phase 1

Antirheumatic Agents

Phase 1

Nicotine

Approved

54-11-5

942 89594

Pulmonary Surfactants

Interventional clinical trials:

(show all 24)

#	Name	Status	NCT ID	Phase	Drugs
1	Whole Lung Lavage Followed by Inhaled Sargramostim in the Treatment of Autoimmune Pulmonary Alveolar Proteinosis	Unknown status	NCT00901511	Phase 2, Phase 3	GM-CSF [Leukine (Sargramostim)]
2	A Randomised, Double-Blind, Placebo-Controlled Multicentre Clinical Trial of Inhaled Molgramostim in Autoimmune Pulmonary AlveoLAr Proteinosis Patients "IMPALA"	Completed	NCT02702180	Phase 2, Phase 3	molgramostim;placebo
3	An Open-label, Non-controlled, Multicentre Clinical Trial of Inhaled Molgramostim in Autoimmune Pulmonary Alveolar Proteinosis Patients	Completed	NCT03482752	Phase 3	Molgramostim
4	A Randomized, Double-blind, Placebo-controlled Clinical Trial of Once-daily Inhaled Molgramostim Nebulizer Solution in Adult Subjects With Autoimmune Pulmonary Alveolar Proteinosis (aPAP)	Not yet recruiting	NCT04544293	Phase 3	Molgramostim;Placebo
5	A Multicenter Clinical Study of the Sequential Therapy With Whole Lung Lavage/Inhaling Granulocyte-macrophage Colony Stimulating Factor in Adult Patients With Severe Autoimmune Pulmonary Alveolar Proteinosis in China	Unknown status	NCT03316651	Phase 2	GM-CSF
6	Prospective Open-Label Trial of Rituximab for Primary Pulmonary Alveolar Proteinosis	Unknown status	NCT00552461	Phase 2	rituximab
7	Study of Subcutaneous Injection of Low-dose Recombinant Granulocyte Macrophage-Colony Stimulating Factor (rhGM-CSF) +/- Whole Lung Lavage(WLL) in Pulmonary Alveolar Proteinosis.	Unknown status	NCT01983657	Phase 2	rhGM-CSF
8	A Prospective Study of Inhaling Granulocyte-macrophage Colony Stimulating Factor in Adult Patients With Mild-to-moderate Autoimmune Pulmonary Alveolar Proteinosis in China: a Randomized Open-label Study	Unknown status	NCT02243228	Phase 2	GM-CSF
9	Inhaled Granulocyte-Macrophage Colony Stimulating Factor (GM-CSF) in Hereditary Pulmonary Alveolar Proteinosis (PAP)	Completed	NCT01511068	Phase 2	Leukine
10	Oral or Enteral Administration of Methionine in Patients With Pulmonary Alveolar Proteinosis by Mutation of the MARS Gene.	Completed	NCT03887169	Phase 1, Phase 2	Methionine;Vitamin B12, B9, B6, C supplementation
11	Pulmonary Alveolar Proteinosis GM-CSF Inhalation Efficacy Trial in Japan	Completed	NCT02835742	Phase 2	Sargramostim;Placebo
12	Trial of GM-CSF for Alveolar Proteinosis	Terminated	NCT00030056	Phase 2	GM-CSF (granulocyte-macrophage colony-stimulating factor, sargramostim)
13	SK-1401 (rhGM-CSF Agent for Inhalation) GM-CSF Inhalation Pharmacokinetic Study	Completed	NCT02840708	Phase 1	Sargramostim
14	First in Human Study of Pioglitazone Therapy of Autoimmune Pulmonary Alveolar Proteinosis	Completed	NCT03231033	Phase 1	Pioglitazone
15	A Randomized, Double-Blind, Placebo-Controlled, Single-Centre, Single Ascending Dose and Multiple Ascending Dose Study of the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of Molgramostim When Administered by Inhalation to Healthy Adult Subjects	Completed	NCT02468908	Phase 1	Molgramostim;Placebo
16	Evaluation of a Single Dose of Inhaled Sargramostim in Patients With Autoimmune Pulmonary Alveolar Proteinosis	Recruiting	NCT03006146	Phase 1	Sargramostim
17	Rituximab (Anti-CD20) for the Treatment of Subjects With Anticytokine Autoantibody-Associated Diseases	Active, not recruiting	NCT01842386	Phase 1	Rituximab
18	Evaluation and Treatment Planning of Patients With PAP Using Thrive Ultra Short Echo Time MRI and CT	Completed	NCT02081092
19	Multicenter International Cross-Sectional Evaluation of Pulmonary Alveolar Proteinosis Trial	Completed	NCT03007134
20	Shanghai Pulmonary Hospital	Recruiting	NCT04516577
21	The Longitudinal Evaluation of Autoimmune Pulmonary Alveolar Proteinosis	Recruiting	NCT03531996
22	Use of cSVF For Residual Lung Damage (COPD/Fibrotic Lung Disease After Symptomatic COVID-19 Infection For Residual Pulmonary Injury or Post-Adult Respiratory Distress Syndrome Following Viral (SARS-Co-2) Infection	Recruiting	NCT04326036	Early Phase 1	Liberase Enzyme (Roche);Sterile Normal Saline for Intravenous Use
23	A National Registry For Pulmonary Alveolar Proteinosis	Recruiting	NCT02461615
24	Orphans Unite: chILD Better Together - European Management Platform for Childhood Interstitial Lung Diseases / chILD-EU - International Register and Biobank for Children´s Interstital Lung Disease	Recruiting	NCT02852928

Search NIH Clinical Center for Pulmonary Alveolar Proteinosis

Cochrane evidence based reviews: pulmonary alveolar proteinosis

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Genetic Tests for Pulmonary Alveolar Proteinosis

Genetic tests related to Pulmonary Alveolar Proteinosis:

#	Genetic test	Affiliating Genes
1	Pulmonary Alveolar Proteinosis ²⁹

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Anatomical Context for Pulmonary Alveolar Proteinosis

MalaCards organs/tissues related to Pulmonary Alveolar Proteinosis:

⁴⁰

Lung, Myeloid, Liver, Bone Marrow, Monocytes, Kidney, Thyroid

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Publications for Pulmonary Alveolar Proteinosis

Articles related to Pulmonary Alveolar Proteinosis:

(show top 50) (show all 1495)

#	Title	Authors	PMID	Year
1	Targeted PPAR{gamma} deficiency in alveolar macrophages disrupts surfactant catabolism. ⁵⁴ ⁶¹	Baker AD...Thomassen MJ	20064973	2010
2	Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia. ⁵⁴ ⁶¹	Vinh DC...Holland SM	20040766	2010
3	[Congenital pulmonary alveolar proteinosis related to a surfactant protein B deficiency: report of two cases]. ⁶¹ ⁵⁴	Verhasselt-Crinquette M...Devisme L	20005435	2009
4	Pulmonary alveolar proteinosis: a bench-to-bedside story of granulocyte-macrophage colony-stimulating factor dysfunction. ⁶¹ ⁵⁴	Greenhill SR...Kotton DN	19666756	2009
5	Granulocyte/macrophage-colony-stimulating factor autoantibodies and myeloid cell immune functions in healthy subjects. ⁵⁴ ⁶¹	Uchida K...Trapnell BC	19282464	2009
6	Quantitative analysis of longitudinal response to aerosolized granulocyte-macrophage colony-stimulating factor in two adolescents with autoimmune pulmonary alveolar proteinosis. ⁵⁴ ⁶¹	Robinson TE...Cornfield DN	19265094	2009
7	Clinical importance of bronchoalveolar lavage fluid and blood cytokines, surfactant protein D, and Kerbs von Lungren 6 antigen in idiopathic pulmonary alveolar proteinosis. ⁵⁴ ⁶¹	Lin FC...Chang SC	19046553	2008
8	Familial pulmonary alveolar proteinosis caused by mutations in CSF2RA. ⁶¹ ⁵⁴	Suzuki T...Trapnell BC	18955570	2008
9	A combination therapy of whole lung lavage and GM-CSF inhalation in pulmonary alveolar proteinosis. ⁶¹ ⁵⁴	Yamamoto H...Nakata K	18618617	2008
10	Serum surfactant protein-A, but not surfactant protein-D or KL-6, can predict preclinical lung damage induced by smoking. ⁵⁴ ⁶¹	Kobayashi H...Motoyoshi K	18595202	2008
11	Characteristics of a large cohort of patients with autoimmune pulmonary alveolar proteinosis in Japan. ⁵⁴ ⁶¹	Inoue Y...Japanese Center of the Rare Lung Diseases Consortium	18202348	2008
12	Differences in the immunolocalization of surfactant protein (SP)-A, SP-D, and KL-6 in pulmonary alveolar proteinosis. ⁶¹ ⁵⁴	Kobayashi M...Ohtsuki Y	18251786	2008
13	Aberrant processing forms of lung surfactant proteins SP-B and SP-C revealed by high-resolution mass spectrometry. ⁶¹ ⁵⁴	Galetskiy D...Przybylski M	19136726	2008
14	GM-CSF autoantibodies and neutrophil dysfunction in pulmonary alveolar proteinosis. ⁶¹ ⁵⁴	Uchida K...Trapnell BC	17287477	2007
15	Molecular dynamics of surfactant protein C: from single molecule to heptameric aggregates. ⁶¹ ⁵⁴	Ramirez E...Lopez GE	16443648	2006
16	Serum antibody against granulocyte/macrophage colony-stimulating factor and KL-6 in idiopathic pulmonary alveolar proteinosis. ⁶¹ ⁵⁴	Nara M...Hattori T	16565598	2006
17	Aerosol granulocyte-macrophage colony-stimulating factor for pulmonary alveolar proteinosis. ⁶¹ ⁵⁴	Wylam ME...Anderson PM	16507860	2006
18	Why does the autoantibody against granulocyte-macrophage colony-stimulating factor cause lesions only in the lung? ⁵⁴ ⁶¹	Nakata K...Watanabe M	16423275	2006
19	Granulocyte-macrophage colony-stimulating factor inhalation therapy for patients with idiopathic pulmonary alveolar proteinosis: a pilot study; and long-term treatment with aerosolized granulocyte-macrophage colony-stimulating factor: a case report. ⁶¹ ⁵⁴	Tazawa R...Nukiwa T	16423274	2006
20	Pulmonary surfactant proteins A and D: innate immune functions and biomarkers for lung diseases. ⁵⁴ ⁶¹	Takahashi H...Kuroki Y	16472150	2006
21	Elevated gelatinase activity in pulmonary alveolar proteinosis: role of macrophage-colony stimulating factor. ⁵⁴ ⁶¹	Bonfield TL...Thomassen MJ	16275889	2006
22	[The pulmonary expression of granulocyte-macrophage colony-stimulating factor and surfactant protein in adult idiopathic pulmonary alveolar proteinosis]. ⁶¹ ⁵⁴	Zhou XM...Chen J	16316563	2005
23	Expression profiles of hydrophobic surfactant proteins in children with diffuse chronic lung disease. ⁵⁴ ⁶¹	Griese M...Bahuau M	16042774	2005
24	Granulocyte-macrophage colony-stimulating factor and lung immunity in pulmonary alveolar proteinosis. ⁵⁴ ⁶¹	Tazawa R...Nukiwa T	15735059	2005
25	Elevated monocyte chemotactic proteins 1, 2, and 3 in pulmonary alveolar proteinosis are associated with chemokine receptor suppression. ⁶¹ ⁵⁴	Bonfield TL...Thomassen MJ	15596412	2005
26	[Autoantibody against granulocyte-macrophage colony-stimulating factor and other serum markers in pulmonary alveolar proteinosis]. ⁵⁴ ⁶¹	Xu KF...Zhu YJ	15730782	2004
27	Surfactant proteins in pulmonary alveolar proteinosis in adults. ⁶¹ ⁵⁴	Brasch F...Johnen G	15358702	2004
28	High resolution mass spectrometric alveolar proteomics: identification of surfactant protein SP-A and SP-D modifications in proteinosis and cystic fibrosis patients. ⁶¹ ⁵⁴	Bai Y...Przybylski M	15274124	2004
29	Mutation of SFTPC in infantile pulmonary alveolar proteinosis with or without fibrosing lung disease. ⁵⁴ ⁶¹	Tredano M...Bahuau M	15039969	2004
30	High-affinity autoantibodies specifically eliminate granulocyte-macrophage colony-stimulating factor activity in the lungs of patients with idiopathic pulmonary alveolar proteinosis. ⁶¹ ⁵⁴	Uchida K...Keicho N	14512323	2004
31	Autoantibodies against granulocyte macrophage colony-stimulating factor are diagnostic for pulmonary alveolar proteinosis. ⁶¹ ⁵⁴	Bonfield TL...Thomassen MJ	12356582	2002
32	Analysis of the GM-CSF and GM-CSF/IL-3/IL-5 receptor common beta chain in a patient with pulmonary alveolar proteinosis. ⁶¹ ⁵⁴	Wang X...Bewig B	11930665	2002
33	Change in cytokeratin 19 fragment level according to the severity of pulmonary alveolar proteinosis. ⁵⁴ ⁶¹	Minakata Y...Yukawa S	11688827	2001
34	[Expression of GM-CSF in patients with pulmonary alveolar proteinosis]. ⁵⁴ ⁶¹	Wang X...Liu F	11802999	2001
35	The palmitoyl groups of lung surfactant protein C reduce unfolding into a fibrillogenic intermediate. ⁵⁴ ⁶¹	Gustafsson M...Johansson J	11453699	2001
36	T-cadherin (CDH13, H-cadherin) expression downregulated surfactant protein D in bronchioloalveolar cells. ⁶¹ ⁵⁴	Takeuchi T...Ohtsuki Y	11355171	2001
37	Serological diagnosis of idiopathic pulmonary alveolar proteinosis. ⁵⁴ ⁶¹	Kitamura T...Nakata K	10934102	2000
38	Detection of granulocyte-macrophage colony-stimulating factor in patients with pulmonary alveolar proteinosis. ⁶¹ ⁵⁴	Carraway MS...Piantadosi CA	10764326	2000
39	Exogenous granulocyte-macrophage colony-stimulating factor administration for pulmonary alveolar proteinosis. ⁶¹ ⁵⁴	Kavuru MS...Stoller JK	10764303	2000
40	Idiopathic pulmonary alveolar proteinosis as an autoimmune disease with neutralizing antibody against granulocyte/macrophage colony-stimulating factor. ⁶¹ ⁵⁴	Kitamura T...Nakata K	10499925	1999
41	Elevated bronchoalveolar concentrations of MCP-1 in patients with pulmonary alveolar proteinosis. ⁶¹ ⁵⁴	Iyonaga K...Ando M	10515418	1999
42	Pulmonary surfactant in health and human lung diseases: state of the art. ⁶¹ ⁵⁴	Griese M	10445627	1999
43	Aerosolized GM-CSF ameliorates pulmonary alveolar proteinosis in GM-CSF-deficient mice. ⁶¹ ⁵⁴	Reed JA...Whitsett JA	10198353	1999
44	Lungs of patients with idiopathic pulmonary alveolar proteinosis express a factor which neutralizes granulocyte-macrophage colony stimulating factor. ⁵⁴ ⁶¹	Tanaka N...Nakata K	9929010	1999
45	[Significance of serum surfactant protein-D (SP-D) level in patients with pulmonary tuberculosis]. ⁶¹ ⁵⁴	Kondo A...Abe S	9844346	1998
46	Attenuated hematopoietic response to granulocyte-macrophage colony-stimulating factor in patients with acquired pulmonary alveolar proteinosis. ⁵⁴ ⁶¹	Seymour JF...Dunn AR	9763547	1998
47	Prenatal diagnosis of congenital alveolar proteinosis (surfactant protein B deficiency). ⁵⁴ ⁶¹	Stuhrmann M...Schmidtke J	9793979	1998
48	Defective expression of granulocyte-macrophage colony-stimulating factor/interleukin-3/interleukin-5 receptor common beta chain in children with acute myeloid leukemia associated with respiratory failure. ⁶¹ ⁵⁴	Dirksen U...Burdach S	9694696	1998
49	The pulmonary alveolar proteinosis in granulocyte macrophage colony-stimulating factor/interleukins 3/5 beta c receptor-deficient mice is reversed by bone marrow transplantation. ⁶¹ ⁵⁴	Nishinakamura R...Murray R	8676086	1996
50	Pulmonary surfactant protein D in sera and bronchoalveolar lavage fluids. ⁶¹ ⁵⁴	Honda Y...Abe S	8520747	1995

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Genes for Pulmonary Alveolar Proteinosis

Genes related to Pulmonary Alveolar Proteinosis (1 elite genes):

(show all 21)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	MARS1	Methionyl-TRNA Synthetase 1	Protein Coding	431.74	Pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
2	SFTPC	Surfactant Protein C	Protein Coding	69.02	Likely pathogenic ⁶ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Publications Summaries Variants (show sections)	11453699 19136726 16042774 (more) 16443648 15039969 15358702
3	CSF2	Colony Stimulating Factor 2	Protein Coding	36.35	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Publications Summaries (show sections)	16507860 16423274 16316563 (more) 8676086 15730782 14512323 19265094 12356582 11930665 20064973 18251786 10198353 18618617 17287477 16423275 10764303 10764326 9763547 19666756 9694696 10934102 11802999 15735059
4	SFTPB	Surfactant Protein B	Protein Coding	35.61	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Publications Summaries (show sections)	15358702 9793979 10445627 (more) 20005435 16042774
5	SFTPD	Surfactant Protein D	Protein Coding	25.68	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Publications (show sections)	8424457 19046553 8046250 (more) 11355171 15274124 16472150 16316563 8520747 9844346 18251786 10456901 18595202
6	GATA2	GATA Binding Protein 2	Protein Coding	23.53	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications (show sections)
7	CSF1	Colony Stimulating Factor 1	Protein Coding	20.43	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Publications (show sections)	16565598 16275889 10499925 (more) 18955570 18202348 19282464
8	CCL2	C-C Motif Chemokine Ligand 2	Protein Coding	16.3	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Publications (show sections)	15596412 10515418
9	CSF2RA	Colony Stimulating Factor 2 Receptor Subunit Alpha	Protein Coding	15.97	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
10	CSF2RB	Colony Stimulating Factor 2 Receptor Subunit Beta	Protein Coding	15.31	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
11	SPI1	Spi-1 Proto-Oncogene	Protein Coding	13.76	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
12	ABCG1	ATP Binding Cassette Subfamily G Member 1	Protein Coding	13.75	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
13	MUC1	Mucin 1, Cell Surface Associated	Protein Coding	13.7	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
14	SFTPA1	Surfactant Protein A1	Protein Coding	13.43	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
15	CEACAM3	CEA Cell Adhesion Molecule 3	Protein Coding	13	Novoseek inferred ⁵⁴ GeneCards inferred via : Publications (show sections)	1611200 15730782
16	IL10	Interleukin 10	Protein Coding	12.67	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
17	IL6	Interleukin 6	Protein Coding	12.39	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
18	ABCA1	ATP Binding Cassette Subfamily A Member 1	Protein Coding	12.39	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
19	TNF	Tumor Necrosis Factor	Protein Coding	12.34	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
20	CXCL8	C-X-C Motif Chemokine Ligand 8	Protein Coding	11.94	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
21	NR1H3	Nuclear Receptor Subfamily 1 Group H Member 3	Protein Coding	11.85	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)

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Variations for Pulmonary Alveolar Proteinosis

ClinVar genetic disease variations for Pulmonary Alveolar Proteinosis:

⁶

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	MARS1	NM_004990.4(MARS1):c.1177G>A (p.Ala393Thr)	SNV	Pathogenic	189364	rs141340466	12:57894189-57894189	12:57500406-57500406
2	MARS1	NM_004990.4(MARS1):c.1814A>T (p.Asp605Val)	SNV	Pathogenic	189365	rs756021768	12:57906594-57906594	12:57512811-57512811
3	MARS1	NM_004990.4(MARS1):c.1177G>A (p.Ala393Thr)	SNV	Pathogenic	189364	rs141340466	12:57894189-57894189	12:57500406-57500406
4	SFTPC	NM_001317778.2(SFTPC):c.163C>T (p.Leu55Phe)	SNV	Likely pathogenic	598978	rs1563221666	8:22020207-22020207	8:22162694-22162694
5	DES	NM_001927.4(DES):c.407T>A (p.Leu136His)	SNV	Uncertain significance	44261	rs397516695	2:220283591-220283591	2:219418869-219418869

Sources

Expression for Pulmonary Alveolar Proteinosis

Search GEO for disease gene expression data for Pulmonary Alveolar Proteinosis.

Sources

Pathways for Pulmonary Alveolar Proteinosis

Pathways related to Pulmonary Alveolar Proteinosis according to GeneCards Suite gene sharing:

(show top 50) (show all 55)

#	Super pathways	Score	Top Affiliating Genes
1	Innate Immune System ⁶⁵ Show member pathways Immune System ⁶⁵ Neutrophil degranulation ⁶⁵	14.05	TNF MUC1 IL6 IL10 CXCL8 CSF2RB
2	ERK Signaling ⁶³ Show member pathways ILK Signaling ⁶³ MAPK Signaling ⁶³ Molecular Mechanisms of Cancer ⁶³ Rho Family GTPases ⁶³	13.85	TNF MUC1 IL6 IL10 CXCL8 CSF2RB
3	PEDF Induced Signaling ⁶³ Show member pathways all-trans-Retinoic Acid Signaling in Brain ⁶³ Cytokine-cytokine receptor interaction ³⁶ Endothelin-1 Signaling Pathway ⁶³ Glucocorticoid Receptor Signaling ⁶³ IL-6 Pathway ⁶³ MIF Mediated Glucocorticoid Regulation ⁶³ MIF Regulation of Innate Immune Cells ⁶³ NFAT Signaling and Lymphocyte Interactions ⁶³ PGC1Alpha Pathway ⁶³ RAR-Gamma-RXR-Alpha Degradation ⁶³ STAT3 Pathway ⁶³	13.69	TNF IL6 IL10 CXCL8 CSF2RB CSF2RA
4	Akt Signaling ⁶³ Show member pathways p38 Signaling ⁶³ Tec Kinases Signaling ⁶³	13.45	TNF IL6 IL10 CXCL8 CSF2RB CSF2RA
5	Cytokine Signaling in Immune system ⁶⁵ Show member pathways Signaling by Interleukins ⁶⁵	13.36	TNF MUC1 IL6 IL10 CXCL8 CSF2RB
6	PAK Pathway ⁶³ Show member pathways Antioxidant Action of Vitamin-C ⁶³ Epithelial Adherens Junctions ⁶³	13.33	TNF IL6 IL10 CXCL8 CSF2RB CSF2RA
7	Toll-like Receptor Signaling Pathway ³⁶ ¹ Show member pathways Chagas disease ³⁶ Hepatitis B ³⁶ Hepatitis C ³⁶ Regulation of toll-like receptor signaling pathway ¹	13.07	TNF SFTPD IL6 IL10 CXCL8 CCL2
8	Pathways in cancer ³⁶	12.84	SPI1 IL6 CXCL8 CSF2RB CSF2RA
9	NF-kappaB Signaling ⁴	12.61	TNF SPI1 IL10 GATA2 CSF2RB CCL2
10	JAK-STAT signaling pathway ³⁶ Show member pathways B-Cell Development ⁶³ IL-7 Signaling Pathways and their Primary Biological Effects in Different Immune Cell Types ⁶⁴ Interleukin-19, 20, 22, 24 ⁶⁵ Jak/STAT Signaling Pathway ⁶⁴ Type III interferon signaling ¹	12.47	IL6 IL10 CSF2RB CSF2RA CSF2
11	IL-17 Family Signaling Pathways ⁶⁴ Show member pathways IL17 signaling pathway ¹ IL-17 signaling pathway ³⁶ Interleukin-17 signaling ⁶⁵ Mucin expression in CF via IL-6, IL-17 signaling pathways ²³	12.39	TNF IL6 CXCL8 CSF2 CCL2
12	Folate Metabolism ¹ Show member pathways Selenium Micronutrient Network ¹ thioredoxin pathway ¹ Vitamin B12 Metabolism ¹	12.39	TNF IL6 CSF1 CCL2 ABCA1
13	Chemokine Superfamily Pathway: Human/Mouse Ligand-Receptor Interactions ⁶⁴ Show member pathways Chemokine receptors bind chemokines ⁶⁵ Viral protein interaction with cytokine and cytokine receptor ³⁶	12.37	TNF IL6 IL10 CXCL8 CSF1 CCL2
14	Human T-cell leukemia virus 1 infection ³⁶	12.35	TNF SPI1 IL6 CSF2
15	Toll Comparative Pathway ⁶³ Show member pathways IL-1 Pathway ⁶³ Immune response MIF in innate immunity response ²³ iNOS Signaling ⁶³ TLR-TRIF Pathway ⁶³	12.32	TNF SPI1 IL6 CXCL8
16	Transcriptional misregulation in cancer ³⁶	12.28	SPI1 IL6 CXCL8 CSF2
17	NOD-like receptor signaling pathway ³⁶	12.25	TNF IL6 CXCL8 CCL2
18	Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways ¹	12.23	TNF IL6 IL10 GATA2 CXCL8
19	Bacterial infections in CF airways ²³ Show member pathways IL-1 beta-dependent CFTR expression ²³ Immune response Bacterial infections in normal airways ²³ Immune response TLR signaling pathways ²³	12.22	TNF SFTPD SFTPA1 MUC1 IL6 CXCL8
20	Yersinia infection ³⁶	12.13	TNF IL6 IL10 CXCL8 CCL2
21	Spinal Cord Injury ¹	12.05	TNF IL6 CXCL8 CCL2
22	TNF signaling pathway ³⁶	12.03	TNF IL6 CSF2 CSF1 CCL2
23	Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers ⁶⁴	12.02	TNF IL6 IL10 CSF2 CSF1 CEACAM3
24	Interleukin-4 and 13 signaling ⁶⁵	11.99	TNF MUC1 IL6 IL10 CXCL8 CCL2
25	Amoebiasis ³⁶	11.98	TNF IL6 IL10 CXCL8 CSF2
26	AGE-RAGE signaling pathway in diabetic complications ³⁶	11.97	TNF IL6 CXCL8 CCL2
27	Hematopoietic cell lineage ³⁶	11.96	TNF IL6 CSF2RA CSF2 CSF1
28	Rheumatoid arthritis ³⁶	11.88	TNF IL6 CXCL8 CSF2 CSF1 CCL2
29	Glucocorticoid receptor regulatory network ¹	11.87	SPI1 IL6 CXCL8 CSF2
30	Diseases of metabolism ⁶⁵ Show member pathways Defective ACTH causes Obesity and Pro-opiomelanocortinin deficiency (POMCD) ⁶⁵ Defective CD320 causes methylmalonic aciduria ⁶⁵ Defective CYP11A1 causes Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR) ⁶⁵ Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC ⁶⁵ Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD ⁶⁵ Defective TCN2 causes hereditary megaloblastic anemia ⁶⁵ Defects in cobalamin (B12) metabolism ⁶⁵ Defects in vitamin and cofactor metabolism ⁶⁵ Electron transport from NADPH to Ferredoxin ⁶⁵ Metabolic disorders of biological oxidation enzymes ⁶⁵	11.85	SFTPD SFTPC SFTPB SFTPA1 CSF2RB CSF2RA
31	Pertussis ³⁶	11.82	TNF SFTPA1 IL6 IL10 CXCL8
32	Innate Lymphoid Cell Differentiation Pathways ⁶⁴	11.79	TNF SPI1 IL10
33	Th1 Differentiation Pathway ⁶⁴ Show member pathways IL27-mediated signaling events ¹	11.77	TNF IL6 IL10
34	Calcineurin-regulated NFAT-dependent transcription in lymphocytes ¹ Show member pathways Calcium signaling in the CD4+ TCR pathway ¹	11.76	TNF CXCL8 CSF2
35	IgA-Producing B Cells in the Intestine ⁶⁴	11.76	TNF SPI1 IL6 IL10
36	Photodynamic therapy-induced NF-kB survival signaling ¹ Show member pathways Immune response MIF-mediated glucocorticoid regulation ²³	11.73	TNF IL6 CXCL8 CSF2
37	Dendritic Cells Developmental Lineage Pathway ⁶⁴	11.67	TNF SPI1 IL6 IL10 CSF2 CSF1
38	Legionellosis ³⁶	11.63	TNF IL6 CXCL8
39	Regulation of retinoblastoma protein ¹	11.62	SPI1 SFTPD CSF2
40	Malaria ³⁶	11.61	TNF IL6 IL10 CXCL8 CCL2
41	MSP-RON Signaling ⁶³	11.57	TNF CSF2RB CSF1 CCL2
42	Hematopoietic Stem Cell Differentiation ¹	11.57	SPI1 IL6 GATA2 CSF2 CSF1
43	Lung fibrosis ¹	11.5	TNF SFTPC SFTPA1 IL6 CXCL8 CSF2
44	African trypanosomiasis ³⁶	11.43	TNF IL6 IL10
45	IL-15 Signaling Pathways and their Primary Biological Effects in Different Immune Cell Types ⁶⁴ Show member pathways IL-2 Signaling Pathways and their Primary Biological Effects in Different Immune Cell Types ⁶⁴	11.41	TNF IL10 CSF2
46	IL-10 Pathway ⁶³	11.4	TNF IL6 IL10
47	Validated transcriptional targets of AP1 family members Fra1 and Fra2 ¹	11.38	IL6 CXCL8 CCL2
48	Surfactant metabolism ⁶⁵ Show member pathways Defective pro-SFTPB causes pulmonary surfactant metabolism dysfunction 1 (SMDP1) and respiratory distress syndrome (RDS) ⁶⁵ Diseases associated with surfactant metabolism ⁶⁵	11.37	SFTPD SFTPC SFTPB SFTPA1 CSF2RB CSF2RA
49	Cytokines and Inflammatory Response ¹	11.23	TNF IL6 IL10 CSF2 CSF1
50	Overview of nanoparticle effects ¹	11.11	TNF IL6 CXCL8

Sources

GO Terms for Pulmonary Alveolar Proteinosis

Cellular components related to Pulmonary Alveolar Proteinosis according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	extracellular region	GO:0005576	9.77	TNF SFTPD SFTPC SFTPB SFTPA1 MUC1
2	multivesicular body	GO:0005771	9.5	SFTPD SFTPB SFTPA1
3	clathrin-coated endocytic vesicle	GO:0045334	9.46	SFTPD SFTPC SFTPB SFTPA1
4	lamellar body	GO:0042599	9.43	SFTPC SFTPB SFTPA1
5	multivesicular body lumen	GO:0097486	9.4	SFTPC SFTPB
6	extracellular space	GO:0005615	9.4	TNF SFTPD SFTPC SFTPB SFTPA1 MUC1
7	alveolar lamellar body	GO:0097208	9.37	SFTPC SFTPB

Biological processes related to Pulmonary Alveolar Proteinosis according to GeneCards Suite gene sharing:

(show all 26)

#	Name	GO ID	Score	Top Affiliating Genes
1	inflammatory response	GO:0006954	9.95	TNF IL6 CXCL8 CSF1 CCL2
2	positive regulation of gene expression	GO:0010628	9.91	TNF IL6 GATA2 CXCL8 CSF2 CSF1
3	immune response	GO:0006955	9.88	TNF IL6 IL10 CXCL8 CSF2 CCL2
4	MAPK cascade	GO:0000165	9.85	TNF CSF2RB CSF2RA CSF2 CCL2
5	positive regulation of tyrosine phosphorylation of STAT protein	GO:0042531	9.77	TNF IL6 CSF2
6	response to glucocorticoid	GO:0051384	9.76	TNF IL6 IL10
7	humoral immune response	GO:0006959	9.73	TNF IL6 CCL2
8	cellular response to lipopolysaccharide	GO:0071222	9.7	TNF IL6 IL10 CXCL8 CSF2 CCL2
9	negative regulation of fat cell differentiation	GO:0045599	9.69	TNF IL6 GATA2
10	positive regulation of phagocytosis	GO:0050766	9.67	TNF SFTPD GATA2
11	positive regulation of JAK-STAT cascade	GO:0046427	9.65	TNF IL6 IL10
12	respiratory gaseous exchange	GO:0007585	9.65	SFTPD SFTPC SFTPB SFTPA1 CSF2RB
13	positive regulation of neuroinflammatory response	GO:0150078	9.63	TNF IL6
14	phospholipid efflux	GO:0033700	9.62	ABCG1 ABCA1
15	positive regulation of podosome assembly	GO:0071803	9.62	TNF CSF2
16	positive regulation of pri-miRNA transcription by RNA polymerase II	GO:1902895	9.62	TNF SPI1 IL10 GATA2
17	response to molecule of bacterial origin	GO:0002237	9.61	IL10 CXCL8
18	negative regulation of cholesterol storage	GO:0010887	9.61	ABCG1 ABCA1
19	negative regulation of lipid storage	GO:0010888	9.59	TNF IL6
20	endothelial cell apoptotic process	GO:0072577	9.58	TNF IL10
21	vascular endothelial growth factor production	GO:0010573	9.57	TNF IL6
22	cellular protein metabolic process	GO:0044267	9.56	SFTPD SFTPC SFTPB SFTPA1 IL6 CSF2RB
23	negative regulation of MHC class II biosynthetic process	GO:0045347	9.54	SPI1 IL10
24	macrophage differentiation	GO:0030225	9.54	SPI1 CSF2 CSF1
25	negative regulation of cytokine production involved in immune response	GO:0002719	9.52	TNF IL10
26	cytokine-mediated signaling pathway	GO:0019221	9.32	TNF MUC1 IL6 IL10 CXCL8 CSF2RB

Molecular functions related to Pulmonary Alveolar Proteinosis according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	protein binding	GO:0005515	10.23	TNF SPI1 SFTPD SFTPC SFTPB SFTPA1
2	growth factor activity	GO:0008083	9.26	IL6 IL10 CSF2 CSF1
3	cytokine activity	GO:0005125	9.17	TNF IL6 IL10 CXCL8 CSF2 CSF1
4	phosphatidylcholine-translocating ATPase activity	GO:0090554	9.16	ABCG1 ABCA1

Sources

Sources for Pulmonary Alveolar Proteinosis

¹ BioSystems

² BitterDB

³ CDC

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⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

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⁷¹ UMLS

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⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia