MCID: PLM006
MIFTS: 49

Pulmonary Alveolar Proteinosis

Categories: Respiratory diseases, Rare diseases, Blood diseases

Aliases & Classifications for Pulmonary Alveolar Proteinosis

MalaCards integrated aliases for Pulmonary Alveolar Proteinosis:

Name: Pulmonary Alveolar Proteinosis 12 76 37 29 55 6 44 15 73

Classifications:



External Ids:

Disease Ontology 12 DOID:12120
ICD10 33 J84.01
ICD9CM 35 516.0
MeSH 44 D011649
NCIt 50 C85037
SNOMED-CT 68 10501004
KEGG 37 H00217
UMLS 73 C0034050

Summaries for Pulmonary Alveolar Proteinosis

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

MalaCards based summary : Pulmonary Alveolar Proteinosis is related to hereditary pulmonary alveolar proteinosis and respiratory failure, and has symptoms including hemoptysis An important gene associated with Pulmonary Alveolar Proteinosis is MARS (Methionyl-TRNA Synthetase), and among its related pathways/superpathways are Metabolism of proteins and Akt Signaling. The drugs Molgramostim and Anti-Bacterial Agents have been mentioned in the context of this disorder. Affiliated tissues include lung, myeloid and testes, and related phenotype is respiratory system.

Wikipedia : 76 Pulmonary alveolar proteinosis (PAP) is a group of rare lung disorders characterized by abnormal... more...

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 115)
# Related Disease Score Top Affiliating Genes
1 hereditary pulmonary alveolar proteinosis 33.3 CSF2RA CSF2RB
2 respiratory failure 30.4 SFTPB SFTPC SFTPD
3 pulmonary fibrosis 29.9 CCL2 SFTPC SFTPD
4 silicosis 29.6 CCL2 SFTPD
5 pneumonia 29.6 CCL2 SFTPB SFTPC SFTPD
6 pulmonary fibrosis, idiopathic 29.1 CCL2 SFTPB SFTPC SFTPD
7 arthritis 29.0 CCL2 CSF1 CSF2
8 interstitial lung disease 28.8 CCL2 SFTPB SFTPC SFTPD
9 lung disease 28.5 CCL2 CSF2 SFTPB SFTPC SFTPD
10 pulmonary alveolar proteinosis, acquired 12.8
11 congenital pulmonary alveolar proteinosis 12.7
12 secondary pulmonary alveolar proteinosis 12.4
13 surfactant metabolism dysfunction, pulmonary, 5 12.1
14 interstitial lung and liver disease 12.1
15 surfactant metabolism dysfunction, pulmonary, 1 11.9
16 surfactant metabolism dysfunction, pulmonary, 4 11.9
17 immunodeficiency 21 11.7
18 lysinuric protein intolerance 11.5
19 surfactant metabolism dysfunction, pulmonary, 2 11.4
20 surfactant metabolism dysfunction, pulmonary, 3 11.4
21 respiratory distress syndrome in premature infants 10.6 SFTPB SFTPC
22 neonatal respiratory failure 10.5 SFTPB SFTPC
23 surfactant dysfunction 10.5 SFTPB SFTPC
24 newborn respiratory distress syndrome 10.5 SFTPB SFTPC
25 tracheal agenesis 10.5 SFTPB SFTPD
26 myelodysplastic syndrome 10.4
27 meconium aspiration syndrome 10.4 CSF2 SFTPB
28 leukemia 10.4
29 diaphragm disease 10.4 SFTPB SFTPC
30 lung cancer 10.2
31 leukemia, chronic myeloid 10.2
32 autoimmune disease 10.1
33 autoimmune disease 1 10.1
34 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.1
35 cryptococcosis 10.1
36 lipid pneumonia 10.1
37 myeloid leukemia 10.1
38 nonspecific interstitial pneumonia 10.1 CCL2 SFTPC
39 eosinophilic pneumonia 10.1 CSF2 SFTPD
40 pulmonary immaturity 10.1 SFTPB SFTPC SFTPD
41 acute respiratory distress syndrome 10.1 SFTPB SFTPC SFTPD
42 adult respiratory distress syndrome 10.0 SFTPB SFTPC
43 systemic lupus erythematosus 10.0
44 interstitial pneumonitis, desquamative, familial 10.0
45 aging 10.0
46 aspergillosis 10.0
47 niemann-pick disease 10.0
48 desquamative interstitial pneumonia 10.0
49 pneumothorax 10.0
50 squamous cell carcinoma 10.0

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



Diseases related to Pulmonary Alveolar Proteinosis

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 respiratory system MP:0005388 9.1 CSF1 CSF2 CSF2RB SFTPB SFTPC SFTPD

Drugs & Therapeutics for Pulmonary Alveolar Proteinosis

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

(show all 16)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Molgramostim Investigational Phase 2, Phase 3,Phase 1 99283-10-0
2 Anti-Bacterial Agents Phase 2, Phase 3
3 Antibiotics, Antitubercular Phase 2, Phase 3
4 Autoantibodies Phase 2, Phase 3,Phase 1
5 Pulmonary Surfactants Phase 2, Phase 3
6 Pharmaceutical Solutions Phase 2, Phase 3,Phase 1
7
rituximab Approved Phase 2,Phase 1 174722-31-7 10201696
8 Antibodies Phase 2,Phase 1
9 Antirheumatic Agents Phase 2,Phase 1
10 Immunoglobulins Phase 2,Phase 1
11
Pioglitazone Approved, Investigational Phase 1 111025-46-8 4829
12 Hypoglycemic Agents Phase 1
13 Antibodies, Monoclonal Phase 1
14
Nicotine Approved 54-11-5 942 89594
15
Protein C Approved
16 Respiratory System Agents

Interventional clinical trials:

(show all 22)
# Name Status NCT ID Phase Drugs
1 Whole Lung Lavage (WLL)/Inhaled Granulocyte-macrophage Colony-stimulating Factor (GM-CSF) in Autoimmune Pulmonary Alveolar Proteinosis (PAP) Unknown status NCT00901511 Phase 2, Phase 3 GM-CSF [Leukine (Sargramostim)]
2 Efficacy and Safety of Inhaled Molgramostim (rhGM-CSF) in Autoimmune Pulmonary Alveolar Proteinosis (aPAP) Recruiting NCT02702180 Phase 2, Phase 3 molgramostim;placebo
3 Safety Extension Trial of Inhaled Molgramostim in Autoimmune Pulmonary Alveolar Proteinosis Enrolling by invitation NCT03482752 Phase 3 Molgramostim
4 Inhalation of Granulocyte-macrophage Colony-stimulating Factor (GM-CSF) for Autoimmune Pulmonary Alveolar Proteinosis (PAP) Unknown status NCT02243228 Phase 2 GM-CSF
5 Prospective Trial of Rituximab for Primary Pulmonary Alveolar Proteinosis Unknown status NCT00552461 Phase 2 rituximab
6 Study of Subcutaneous Injection of Low-dose rhGM-CSF +/- WLL in PAP. Unknown status NCT01983657 Phase 2 rhGM-CSF
7 Inhaled Granulocyte-Macrophage Colony Stimulating Factor (GM-CSF) in Hereditary Pulmonary Alveolar Proteinosis (PAP) Completed NCT01511068 Phase 2 Leukine
8 Sequential Therapy With WLL/Inhaling GM-CSF for Autoimmune Pulmonary Alveolar Proteinosis Recruiting NCT03316651 Phase 2 GM-CSF
9 Pulmonary Alveolar Proteinosis GM-CSF Inhalation Efficacy Trial in Japan Active, not recruiting NCT02835742 Phase 2 Sargramostim;Placebo
10 GM-CSF in Patients With Pulmonary Alveolar Proteinosis Terminated NCT00030056 Phase 2 GM-CSF (granulocyte-macrophage colony-stimulating factor, sargramostim)
11 SK-1401 (rhGM-CSF Agent for Inhalation) GM-CSF Inhalation Pharmacokinetic Study Completed NCT02840708 Phase 1 Sargramostim
12 Inhaled Molgramostim (rhGM-CSF) in Healthy Adult Subjects Completed NCT02468908 Phase 1 Molgramostim;Placebo
13 Pioglitazone Therapy of Autoimmune Pulmonary Alveolar Proteinosis Autoimmune Pulmonary Alveolar Proteinosis Recruiting NCT03231033 Phase 1 Pioglitazone
14 Evaluation of a Single Dose of Inhaled Sargramostim in Patients With Autoimmune Pulmonary Alveolar Proteinosis Recruiting NCT03006146 Phase 1 Sargramostim
15 Rituximab for Anti-cytokine Autoantibody-Associated Diseases Recruiting NCT01842386 Phase 1 Rituximab/Rituxan
16 Multicenter International Cross-Sectional Evaluation of Pulmonary Alveolar Proteinosis Trial Completed NCT03007134
17 A National Registry For Pulmonary Alveolar Proteinosis Recruiting NCT02461615
18 The Longitudinal Evaluation of Autoimmune Pulmonary Alveolar Proteinosis Recruiting NCT03531996
19 Evaluation and Treatment Planning of Patients With PAP Using Thrive Ultra Short Echo Time MRI and CT Recruiting NCT02081092
20 European Management Platform for Childhood Interstitial Lung Diseases - chILD-EU Register and Biobank Recruiting NCT02852928
21 Natural History Study of GATA2 Deficiency and Related Disorders Recruiting NCT01905826
22 Epidemiology of Surfactant Protein-B Deficiency Recruiting NCT00014859

Search NIH Clinical Center for Pulmonary Alveolar Proteinosis

Cochrane evidence based reviews: pulmonary alveolar proteinosis

Genetic Tests for Pulmonary Alveolar Proteinosis

Genetic tests related to Pulmonary Alveolar Proteinosis:

# Genetic test Affiliating Genes
1 Pulmonary Alveolar Proteinosis 29

Anatomical Context for Pulmonary Alveolar Proteinosis

MalaCards organs/tissues related to Pulmonary Alveolar Proteinosis:

41
Lung, Myeloid, Testes, Bone, Brain, Bone Marrow, Monocytes

Publications for Pulmonary Alveolar Proteinosis

Articles related to Pulmonary Alveolar Proteinosis:

(show top 50) (show all 662)
# Title Authors Year
1
Pulmonary alveolar proteinosis following cryptococcal meningitis: a possible cause? ( 29592982 )
2018
2
Pleural effusion as presenting feature of pulmonary alveolar proteinosis: A rare occurrence. ( 29498798 )
2018
3
A Case of Pulmonary Alveolar Proteinosis with Ulcerative Colitis. ( 29709938 )
2018
4
Pulmonary Transplantation of Human iPSC-derived Macrophages Ameliorates Pulmonary Alveolar Proteinosis. ( 29652170 )
2018
5
Autoimmune pulmonary alveolar proteinosis in an adolescent successfully treated with inhaled rhGM-CSF (molgramostim). ( 29719809 )
2018
6
Novel application of cryobiopsy in the diagnosis of pulmonary alveolar proteinosis. ( 29938112 )
2018
7
Evolving management and patient choice in pulmonary alveolar proteinosis. ( 29580708 )
2018
8
Pulmonary Alveolar Proteinosis ( 29493933 )
2018
9
Heterozygous Mutations in OAS1 Cause Infantile-Onset Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia. ( 29455859 )
2018
10
Cytopathological examination of bronchoalveolar lavage fluid in diagnosis of pulmonary alveolar proteinosis. ( 29403217 )
2018
11
Pulmonary alveolar proteinosis in adults: pathophysiology and clinical approach. ( 29397349 )
2018
12
Mutations in MARS identified in a specific type of pulmonary alveolar proteinosis alter methionyl-tRNA synthetase activity. ( 29775242 )
2018
13
New interplay between interstitial and alveolar macrophages explains pulmonary alveolar proteinosis (PAP) induced by indium tin oxide particles. ( 29484482 )
2018
14
An eleven-year retrospective cross-sectional study on pulmonary alveolar proteinosis. ( 29490416 )
2018
15
Whole-lung lavage in a patient with pulmonary alveolar proteinosis. ( 29652291 )
2018
16
Pulmonary Alveolar Proteinosis in Setting of Inhaled Toxin Exposure and Chronic Substance Abuse. ( 29607238 )
2018
17
Pulmonary alveolar proteinosis and <i>Mycobacterium abscessus</i> lung infection related to ruxolitinib after allogeneic stem cell transplantation. ( 29650554 )
2018
18
Novel method of noninvasive ventilation supported therapeutic lavage in pulmonary alveolar proteinosis proves to relieve dyspnea, normalize pulmonary function test results and recover exercise capacity: a short communication. ( 29850154 )
2018
19
Clinical significance of serum anti-GM-CSF autoantibody levels in autoimmune pulmonary alveolar proteinosis. ( 29202602 )
2018
20
Secondary pulmonary alveolar proteinosis: a single-center retrospective study (a case series and literature review). ( 29368649 )
2018
21
Severe Pulmonary Alveolar Proteinosis in a Young Adult. ( 29307537 )
2018
22
Peripheral alveolar nitric oxide concentration reflects alveolar inflammation in autoimmune pulmonary alveolar proteinosis. ( 29577041 )
2018
23
Brain abscess due to Nocardia infection in an immunocompetent patient with asymptomatic pulmonary alveolar proteinosis. ( 28718013 )
2017
24
Hematopoietic stem cell transplantation for pulmonary alveolar proteinosis associated with primary immunodeficiency disease. ( 29185156 )
2017
25
Congenital Pulmonary Alveolar Proteinosis: From Birth to Ten-years of Age. ( 28512724 )
2017
26
Elderly-onset hereditary pulmonary alveolar proteinosis and its cytokine profile. ( 28212655 )
2017
27
Bilateral lung disease, extensive and diffuse. Diagnosis of pulmonary alveolar proteinosis by bronchoscopic cryobiopsy. ( 29021953 )
2017
28
Secondary pulmonary alveolar proteinosis after lung transplantation: aA single-centre series. ( 28232408 )
2017
29
Serum YKL-40 is a reliable biomarker for pulmonary alveolar proteinosis. ( 28569052 )
2017
30
Recurrent pulmonary alveolar proteinosis in an immunocompromised host. ( 29110133 )
2017
31
A Semiquantitative Computed Tomographic Grading System for Evaluating Therapeutic Response in Pulmonary Alveolar Proteinosis. ( 28489417 )
2017
32
An Alternative Lung Isolation Technique in Paediatric Pulmonary Alveolar Proteinosis. ( 29114417 )
2017
33
Elevated Serum Anti-GM-CSF Antibodies before the Onset of Autoimmune Pulmonary Alveolar Proteinosis in a Patient with Sarcoidosis and Systemic Sclerosis. ( 28966213 )
2017
34
Hepatic Steatosis Accompanies Pulmonary Alveolar Proteinosis. ( 28489415 )
2017
35
Serum KL-6 in pulmonary alveolar proteinosis: China compared historically with Germany and Japan. ( 28275476 )
2017
36
Pulmonary Alveolar Proteinosis in Association with Secondary Hemophagocytic Lymphohistiocytosis. ( 28088396 )
2017
37
Pulmonary Alveolar Proteinosis: A Comprehensive Clinical Perspective. ( 28771412 )
2017
38
A newly identified novel variant in theA CSF2RA gene in aA child with pulmonary alveolar proteinosis: a case report. ( 28464852 )
2017
39
Inflammatory responses induce an identity crisis of alveolar macrophages leading to pulmonary alveolar proteinosis. ( 28916727 )
2017
40
Quantitative assessment of Pulmonary Alveolar Proteinosis (PAP) with ultra-dose CT and correlation with Pulmonary Function Tests (PFTs). ( 28301535 )
2017
41
Does dust-associated pulmonary alveolar proteinosis represent an autoimmune disorder? ( 28514019 )
2017
42
Herpes Simplex Virus, Cytomegalovirus, and Pneumocystis jiroveci Pneumonia in a Treatment-Naive HIV-Positive Patient with Pulmonary Alveolar Proteinosis: Case Report. ( 28393663 )
2017
43
Pulmonary Alveolar Proteinosis. ( 29240908 )
2017
44
Insights into the Treatment of Severe Pulmonary Alveolar Proteinosis. ( 28763266 )
2017
45
Cytogenetic evidence for the clonal hematopoietic cell origin of alveolar macrophages in myelodysplastic syndrome-associated pulmonary alveolar proteinosis. ( 28849334 )
2017
46
Sequential Granulocyte-Macrophage Colony-Stimulating Factor Inhalation after Whole-Lung Lavage for Pulmonary Alveolar Proteinosis. A Report of Five Intractable Cases. ( 28421817 )
2017
47
Clinical features of secondary pulmonary alveolar proteinosis associated with myelodysplastic syndrome: Two case reports. ( 29095306 )
2017
48
Pulmonary Alveolar Proteinosis: Crazing-Paving Appearance. ( 29191486 )
2017
49
Successful haematopoietic stem cell transplantation in a case of pulmonary alveolar proteinosis due to GM-CSF receptor deficiency. ( 29263235 )
2017
50
Pathological features of explant lungs with fibrosis in autoimmune pulmonary alveolar proteinosis. ( 28748093 )
2017

Variations for Pulmonary Alveolar Proteinosis

ClinVar genetic disease variations for Pulmonary Alveolar Proteinosis:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MARS NM_004990.3(MARS): c.1031A> G (p.Tyr344Cys) single nucleotide variant Pathogenic rs766466297 GRCh38 Chromosome 12, 57498563: 57498563
2 MARS NM_004990.3(MARS): c.1031A> G (p.Tyr344Cys) single nucleotide variant Pathogenic rs766466297 GRCh37 Chromosome 12, 57892346: 57892346
3 MARS NM_004990.3(MARS): c.1177G> A (p.Ala393Thr) single nucleotide variant no interpretation for the single variant rs141340466 GRCh38 Chromosome 12, 57500406: 57500406
4 MARS NM_004990.3(MARS): c.1177G> A (p.Ala393Thr) single nucleotide variant no interpretation for the single variant rs141340466 GRCh37 Chromosome 12, 57894189: 57894189
5 MARS NM_004990.3(MARS): c.1700C> T (p.Ser567Leu) single nucleotide variant no interpretation for the single variant rs143592405 GRCh38 Chromosome 12, 57512300: 57512300
6 MARS NM_004990.3(MARS): c.1700C> T (p.Ser567Leu) single nucleotide variant no interpretation for the single variant rs143592405 GRCh37 Chromosome 12, 57906083: 57906083
7 MARS NM_004990.3(MARS): c.1814A> T (p.Asp605Val) single nucleotide variant Pathogenic rs756021768 GRCh38 Chromosome 12, 57512811: 57512811
8 MARS NM_004990.3(MARS): c.1814A> T (p.Asp605Val) single nucleotide variant Pathogenic rs756021768 GRCh37 Chromosome 12, 57906594: 57906594

Expression for Pulmonary Alveolar Proteinosis

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

Pathways for Pulmonary Alveolar Proteinosis

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

(show all 21)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.49 CCL2 CSF2RA CSF2RB SFTPB SFTPC SFTPD
2
Show member pathways
13.11 CCL2 CSF1 CSF2 CSF2RA CSF2RB
3
Show member pathways
13.07 CCL2 CSF1 CSF2 CSF2RA CSF2RB
4
Show member pathways
13 CCL2 CSF1 CSF2 CSF2RA CSF2RB
5
Show member pathways
12.35 CSF2 CSF2RA CSF2RB
6 12.29 CCL2 CSF2RB GATA2
7
Show member pathways
11.88 CSF2 CSF2RA CSF2RB
8 11.69 CCL2 CSF1 CSF2
9 11.62 CSF1 CSF2 CSF2RA
10 11.56 CCL2 CSF1 CSF2
11
Show member pathways
11.52 CSF2RA CSF2RB SFTPB SFTPC SFTPD
12 11.38 CCL2 CSF2 SFTPC
13 11.34 CSF2 SFTPD
14 11.23 CCL2 CSF1 CSF2
15 11.18 CSF1 CSF2 GATA2
16 11.11 CCL2 CSF1 CSF2RB
17 11.02 CSF1 CSF2
18
Show member pathways
10.99 CSF2RA CSF2RB SFTPB SFTPC SFTPD
19 10.71 CCL2 CSF1
20 10.61 CSF1 CSF2
21
Show member pathways
10.42 CSF2RA CSF2RB SFTPB SFTPC SFTPD

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 space GO:0005615 9.8 CCL2 CSF1 CSF2 SFTPB SFTPC SFTPD
2 extracellular region GO:0005576 9.8 CCL2 CSF1 CSF2 CSF2RA SFTPB SFTPC
3 multivesicular body GO:0005771 9.37 SFTPB SFTPD
4 multivesicular body lumen GO:0097486 9.16 SFTPB SFTPC
5 clathrin-coated endocytic vesicle GO:0045334 9.13 SFTPB SFTPC SFTPD
6 lamellar body GO:0042599 8.8 SFTPB SFTPC SFTPD

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 regulation of molecular function GO:0065009 9.69 CSF2 CSF2RA CSF2RB
2 peptidyl-tyrosine phosphorylation GO:0018108 9.61 CSF2 CSF2RA CSF2RB
3 MAPK cascade GO:0000165 9.56 CCL2 CSF2 CSF2RA CSF2RB
4 cytokine-mediated signaling pathway GO:0019221 9.55 CCL2 CSF1 CSF2 CSF2RA CSF2RB
5 animal organ morphogenesis GO:0009887 9.54 CCL2 GATA2 SFTPB
6 positive regulation of phagocytosis GO:0050766 9.49 GATA2 SFTPD
7 homeostasis of number of cells within a tissue GO:0048873 9.48 CSF1 GATA2
8 embryonic placenta development GO:0001892 9.46 CSF2 GATA2
9 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.4 CSF1 CSF2
10 macrophage chemotaxis GO:0048246 9.32 CCL2 SFTPD
11 respiratory gaseous exchange GO:0007585 9.26 CSF2RB SFTPB SFTPC SFTPD
12 cellular protein metabolic process GO:0044267 9.1 CSF1 CSF2RA CSF2RB SFTPB SFTPC SFTPD

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

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.33 CCL2 CSF1 CSF2
2 cytokine receptor activity GO:0004896 9.26 CSF2RA CSF2RB
3 protein tyrosine kinase activity GO:0004713 9.13 CSF2 CSF2RA CSF2RB
4 Ras guanyl-nucleotide exchange factor activity GO:0005088 8.8 CSF2 CSF2RA CSF2RB

Sources for Pulmonary Alveolar Proteinosis

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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