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

MCID: PLM012 MIFTS: 58	Pulmonary Sarcoidosis Categories: Immune diseases, Respiratory diseases
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Aliases & Classifications for Pulmonary Sarcoidosis

MalaCards integrated aliases for Pulmonary Sarcoidosis:

Name: Pulmonary Sarcoidosis ³⁸ ¹² ¹⁵

Sarcoidosis, Pulmonary ⁷⁶ ⁴⁴ ⁷³

Sarcoidosis Pulmonary ⁵⁵

Lung Sarcoidosis ¹²

Classifications:

MalaCards categories:
Anatomical: Immune diseases Respiratory diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Certain disorders involving the immune mechanism

Sarcoidosis

Sarcoidosis of lung

Sarcoidosis of lung with sarcoidosis of lymph nodes

External Ids:

Disease Ontology ¹² DOID:13406

ICD10 ³³ D86.0 D86.2

MeSH ⁴⁴ D017565

NCIt ⁵⁰ C34997

SNOMED-CT ⁶⁸ 24369008

UMLS ⁷³ C0036205

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Summaries for Pulmonary Sarcoidosis

MalaCards based summary : Pulmonary Sarcoidosis, also known as sarcoidosis, pulmonary, is related to interstitial lung disease and chronic beryllium disease. An important gene associated with Pulmonary Sarcoidosis is TNF (Tumor Necrosis Factor), and among its related pathways/superpathways are Innate Immune System and ERK Signaling. The drugs Azathioprine and Methotrexate have been mentioned in the context of this disorder. Affiliated tissues include lung, t cells and lymph node, and related phenotypes are Synthetic lethal with MLN4924 (a NAE inhibitor) and Synthetic lethal with MLN4924 (a NAE inhibitor)

Wikipedia : ⁷⁶ Sarcoidosis is a disease involving abnormal collections of inflammatory cells that form lumps known as... more...

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Related Diseases for Pulmonary Sarcoidosis

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

(show top 50) (show all 296)

#	Related Disease	Score	Top Affiliating Genes
1	interstitial lung disease	31.5	CCL2 CCL5 IFNG SFTPD TNF
2	chronic beryllium disease	30.0	IFNG TNF
3	pneumonia	29.9	CCL2 CCL5 SFTPD TNF
4	skin sarcoidosis	29.8	ACE TNF
5	vasculitis	29.8	CCL2 ICAM1 TNF
6	bronchiolitis obliterans	29.7	CXCR3 IFNG TNF
7	bronchiolitis	29.7	CCL5 IFNG TNF
8	crescentic glomerulonephritis	29.7	CCL2 CCR5 ICAM1
9	encephalitis	29.7	CCL2 CCL5 CCR5
10	ulcerative colitis	29.6	IFNG IL2 TNF
11	colitis	29.6	IFNG IL2 TNF
12	respiratory failure	29.5	ACE SFTPD TNF
13	pulmonary tuberculosis	29.5	IFNG IL18 IL2 TNF
14	lung disease	29.5	CCL2 CCL5 CSF2 CXCR3 SFTPD TNF
15	arthritis	29.4	CCL2 CSF2 IFNG IL18 TNF
16	lymphopenia	29.4	IFNG IL2 IL2RA
17	mycobacterium tuberculosis 1	29.3	CXCR3 IFNG IL18 TNF
18	extrinsic allergic alveolitis	29.3	CCL2 CCL5 CXCL5 CXCR3 IL18 IL2RA
19	pleurisy	29.3	CCL2 ICAM1 IFNG IL2 TNF
20	leishmaniasis	29.3	CCL2 CCR5 IFNG IL2 TNF
21	uveitis	29.3	CCL2 CXCR3 ICAM1 IFNG IL2RA TNF
22	pulmonary fibrosis, idiopathic	29.1	CCL2 CCL5 CXCL5 CXCR3 IFNG IL18
23	multiple sclerosis	28.9	CCL2 CCL5 CCR5 CXCR3 ICAM1 IFNG
24	sarcoidosis 1	28.8	ACE CCL2 CSF2 CXCR3 ICAM1 IFNG
25	psoriasis	28.7	CCL2 CCL5 CXCR3 ICAM1 IFNG IL18
26	systemic lupus erythematosus	28.3	ACE CCL2 CCL5 CCR5 CXCR3 ICAM1
27	rheumatoid arthritis	28.1	CCL2 CCL5 CSF2 CXCL5 ICAM1 IFNG
28	cardiac sarcoidosis	10.3	IFNG TNF
29	autoimmune myocarditis	10.3	IFNG TNF
30	miliary tuberculosis	10.3	IFNG TNF
31	staphylococcal toxic shock syndrome	10.3	IFNG TNF
32	mucocutaneous leishmaniasis	10.3	CCR5 TNF
33	shwartzman phenomenon	10.3	ICAM1 TNF
34	anthracosis	10.3	CCL2 TNF
35	congenital cytomegalovirus	10.3	CCL2 TNF
36	african tick-bite fever	10.3	CCL5 IFNG
37	herpes simplex virus keratitis	10.3	CCL2 ICAM1
38	ileocolitis	10.3	IL2RA TNF
39	anterior uveitis	10.3	IL2RA TNF
40	whiplash	10.3	CCL5 CCR5
41	autoimmune enteropathy	10.3	ICAM1 IL2RA
42	mucormycosis	10.2	CSF2 IFNG
43	candida glabrata	10.2	CSF2 IFNG
44	burns	10.2	CSF2 TNF
45	granulomatous dermatitis	10.2	ACE TNF
46	scorpion envenomation	10.2	CCL5 TNF
47	posterior urethral valves	10.2	ACE TNF
48	subacute cutaneous lupus erythematosus	10.2	ACE TNF
49	berylliosis	10.2	IFNG IL2
50	atherosclerosis susceptibility	10.2	CCL2 ICAM1 TNF

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

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Symptoms & Phenotypes for Pulmonary Sarcoidosis

GenomeRNAi Phenotypes related to Pulmonary Sarcoidosis according to GeneCards Suite gene sharing:

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Synthetic lethal with MLN4924 (a NAE inhibitor)	GR00250-A-1	9.7	ACE ICAM1 IL18 IL2 IL2RA TNF
2	Synthetic lethal with MLN4924 (a NAE inhibitor)	GR00250-A-2	9.7	ACE ICAM1 IL18 IL2 IL2RA TNF

MGI Mouse Phenotypes related to Pulmonary Sarcoidosis:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	hematopoietic system	MP:0005397	10.18	ACE CCL5 CCR5 CSF2 CXCR3 ICAM1
2	cardiovascular system	MP:0005385	10.13	ACE CCR5 CSF2 CXCR3 ICAM1 IFNG
3	immune system	MP:0005387	10.13	ACE CCL2 CCL5 CCR5 CSF2 CXCR3
4	homeostasis/metabolism	MP:0005376	10.11	ACE CCR5 CSF2 CXCR3 ICAM1 IFNG
5	growth/size/body region	MP:0005378	10.09	ACE CSF2 ICAM1 IFNG IL18 IL2
6	digestive/alimentary	MP:0005381	10	CCR5 ICAM1 IFNG IL18 IL2 IL2RA
7	mortality/aging	MP:0010768	10	ACE CCR5 CSF2 CXCR3 ICAM1 IFNG
8	neoplasm	MP:0002006	9.76	ACE CCR5 CSF2 CXCR3 ICAM1 IFNG
9	respiratory system	MP:0005388	9.5	CSF2 CXCR3 IFNG IL2 IL2RA SFTPD
10	vision/eye	MP:0005391	9.17	CCR5 ICAM1 IFNG IL18 IL2 IL2RA

Sources

Drugs & Therapeutics for Pulmonary Sarcoidosis

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

(show top 50) (show all 107)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Azathioprine

Approved

Phase 4,Phase 2

446-86-6

2265

Methotrexate

Approved

Phase 4

59-05-2, 1959-05-2

126941

Prednisone

Approved, Vet_approved

Phase 4,Phase 3,Not Applicable

53-03-2

5865

Methylprednisolone

Approved, Vet_approved

Phase 4,Not Applicable

83-43-2

6741

Prednisolone

Approved, Vet_approved

Phase 4,Not Applicable

50-24-8

5755

Prednisolone phosphate

Approved, Vet_approved

Phase 4,Not Applicable

302-25-0

Methylprednisolone hemisuccinate

Approved

Phase 4,Not Applicable

2921-57-5

Nicotine

Approved

Phase 4,Phase 1,Phase 2

54-11-5

942 89594

Acetylcholine

Approved

Phase 4

51-84-3

187

Prednisolone hemisuccinate

Experimental

Phase 4,Not Applicable

2920-86-7

beta-endorphin

Phase 4

Hormones

Phase 4,Phase 3,Not Applicable

Adrenocorticotropic Hormone

Phase 4

Hormones, Hormone Substitutes, and Hormone Antagonists

Phase 4,Phase 3,Not Applicable

Melanocyte-Stimulating Hormones

Phase 4

Hormone Antagonists

Phase 4,Phase 3,Not Applicable

Antineoplastic Agents, Hormonal

Phase 4,Phase 3,Not Applicable

Autonomic Agents

Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable

glucocorticoids

Phase 4,Phase 3,Not Applicable

Antiemetics

Phase 4,Phase 3,Not Applicable

Gastrointestinal Agents

Phase 4,Phase 3,Not Applicable

Anti-Inflammatory Agents

Phase 4,Phase 3,Not Applicable

Peripheral Nervous System Agents

Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable

Protective Agents

Phase 4,Phase 2,Not Applicable

Neurotransmitter Agents

Phase 4,Phase 1,Phase 2

Prednisolone acetate

Phase 4,Not Applicable

Neuroprotective Agents

Phase 4,Not Applicable

Immunosuppressive Agents

Phase 4,Phase 2

Methylprednisolone acetate

Phase 4,Not Applicable

Cholinergic Agents

Phase 4,Phase 1,Phase 2

Central Nervous System Stimulants

Phase 4,Phase 1,Phase 2

Nicotinic Agonists

Phase 4,Phase 1,Phase 2

Dexamethasone

Approved, Investigational, Vet_approved

Phase 3

50-02-2

5743

Dexamethasone acetate

Approved, Investigational, Vet_approved

Phase 3

1177-87-3

Hydroxychloroquine

Approved

Phase 3

118-42-3

3652

Mycophenolic acid

Approved

Phase 3

24280-93-1

446541

Methionine

Approved, Nutraceutical

Phase 2, Phase 3

63-68-3

6137

Carbon-11 methionine

Phase 2, Phase 3

BB 1101

Phase 3

protease inhibitors

Phase 3

HIV Protease Inhibitors

Phase 3

Antiparasitic Agents

Phase 3

Anti-Infective Agents

Phase 3,Phase 2,Phase 1,Not Applicable

Antirheumatic Agents

Phase 3,Phase 2

Antiprotozoal Agents

Phase 3

Antimalarials

Phase 3

Antitubercular Agents

Phase 3,Phase 2,Phase 1

Anti-Bacterial Agents

Phase 3,Phase 2,Phase 1

Antibiotics, Antitubercular

Phase 3,Phase 2,Phase 1

Pentoxifylline

Approved, Investigational

Phase 2

6493-05-6

4740

Interventional clinical trials:

(show all 40)

#	Name	Status	NCT ID	Phase	Drugs
1	Acthar Gel for Chronic Pulmonary Sarcoidosis (ACPS)	Unknown status	NCT02188017	Phase 4	Acthar gel
2	Use of Roflumilast to Prevent Exacerbations in Fibrotic Sarcoidosis Patients (REFS)	Unknown status	NCT01830959	Phase 4	Roflumilast;Placebo
3	Pilot Study to Assess the Efficacy and Safety of H.P. Acthar® Gel in Subjects With Pulmonary Sarcoidosis	Recruiting	NCT03320070	Phase 4	repository corticotropin injection;Placebo
4	Efficacy and Safety of Two Glucocorticoid Regimens in the Treatment of Sarcoidosis	Recruiting	NCT03265405	Phase 4	Low dose prednisolone;Medium dose prednisolone
5	Study of Nicotine Patches in Patients With Sarcoidosis	Suspended	NCT00701207	Phase 4	nicotine patch
6	Imaging of Active Granulomas With [18F]FDG and Selected Inflammatory PET Tracers in Pulmonary Sarcoidosis	Unknown status	NCT02824419	Phase 2, Phase 3	Methionine;DOTANOC
7	Low-dose Dexamethasone in Newly Diagnosed Pulmonary Sarcoidosis	Unknown status	NCT01920919	Phase 3	Dexamethasone;Placebo
8	Hydroxychloroquine as Steroid-Sparing Agent in Pulmonary Sarcoidosis (HySSAS).	Completed	NCT02200146	Phase 3	Prednisone;Hydroxychloroquine + Prednisone
9	Trial for the Diagnosis of Sarcoidosis	Completed	NCT00872612	Phase 3
10	Mycophenolate for Pulmonary Sarcoidosis	Terminated	NCT00262132	Phase 3	Mycophenolate
11	Treatment of Pulmonary Sarcoidosis With Pentoxifylline	Completed	NCT00001877	Phase 2	Pentoxifylline
12	Atorvastatin to Treat Pulmonary Sarcoidosis	Completed	NCT00279708	Phase 2	Atorvastatin
13	Rituximab for Pulmonary Sarcoidosis	Completed	NCT00855205	Phase 2	Rituximab
14	A Study to Evaluate the Safety and Effectiveness of Ustekinumab or Golimumab Administered Subcutaneously (SC) in Patients With Sarcoidosis	Completed	NCT00955279	Phase 2	Placebo;Golimumab;Ustekinumab
15	Study of Efficacy, Safety and Tolerability of ACZ885 (Canakinumab) in Patients With Pulmonary Sarcoidosis	Recruiting	NCT02888080	Phase 2	ACZ885;Placebo
16	Phase II Investigation of Antimycobacterial Therapy on Progressive, Pulmonary Sarcoidosis	Recruiting	NCT02024555	Phase 2	Levofloxacin;Ethambutol;Azithromycin;Rifampin;Placebo
17	Nicotine Treatment for Pulmonary Sarcoidosis: A Clinical Trial Pilot Study	Recruiting	NCT02265874	Phase 1, Phase 2	Habitrol;Placebo to Habitrol
18	A Phase 2, Safety, Tolerability, and Efficacy Study of PD 0360324 in Chronic Pulmonary Sarcoidosis	Terminated	NCT01732211	Phase 2
19	Safety and Efficacy Study of Bosentan in Progressive Pulmonary Sarcoidosis	Terminated	NCT00926627	Phase 2	bosentan;placebo
20	Safety Study of Abatacept to Treat Refractory Sarcoidosis	Terminated	NCT00739960	Phase 2	Abatacept
21	Clinical Trial to Assess the Efficacy of Rituximab and Azathioprine in the Treatment of Granulomatous and Lymphocytic Interstitial Lung Disease (GLILD) in Adult Patients With Common Variable Immunodeficiency (CVID)	Withdrawn	NCT02789397	Phase 2	Rituximab (RTX) and Azathioprine (AZA);Placebo Administration
22	Investigation of the Efficacy of Antibiotics on Pulmonary Sarcoidosis	Completed	NCT01169038	Phase 1	levaquin; ethambutol; rifampin and azithromycin.
23	Tofacitinib Hypothesis-generating, Pilot Study for Corticosteroid-Dependent Sarcoidosis	Not yet recruiting	NCT03793439	Phase 1	Tofacitinib 5mg Oral Tablet [Xeljanz] 16 week trial;Corticosteroid;Tofacitinib 5mg [Xeljanz] 1 year open-label extension
24	Safety of Intravenous Infusion of Human Placenta-Derived Cells (PDA001) for the Treatment of Adults With Stage II or III Pulmonary Sarcoidosis	Terminated	NCT01440192	Phase 1
25	Rehabilitation in Pulmonary Sarcoidosis: a Prospective Study	Unknown status	NCT01384123
26	The Role of Physical Activity and Diet Within Pulmonary Sarcoidosis	Completed	NCT03336736
27	The Effect of N-Acetyl-L-Cysteine, on Inflammatory and Oxidative Stress Markers in Pulmonary Sarcoidosis	Completed	NCT01587001	Not Applicable	Placebo
28	Antibody Response to Influenza Vaccine in Patients With Sarcoidosis	Completed	NCT00828828
29	Sarcoidosis-associated Pulmonary Hypertension	Completed	NCT01139710
30	The Occurence of Inflammation and Oxidative Stress in Lung Diseases	Completed	NCT00512967
31	Pathogen Specific Immunity in Patients With Sarcoidosis	Completed	NCT00217789
32	A Prospective Study Measuring Exhaled Nitric Oxide in Exercise-Induced Asthma	Completed	NCT01097954
33	Eye and Immunogenetic Features of Sarcoidosis	Completed	NCT00379275
34	CASPA: CArdiac Sarcoidosis in PApworth	Recruiting	NCT03599414
35	A Study to Estimate the Effect Sizes of HRCT Endpoints in Response to Glucocorticoid Induction Therapy in Subjects With Pulmonary Sarcoidosis	Recruiting	NCT03324503	Not Applicable	Glucocorticoid (prednisone or prednisolone)
36	Validation of the Analysis Methodology Behind the Use of Quantitative 18F-FDG PET/CT to Assess Lung Inflammation	Recruiting	NCT03312712
37	Delayed-Enhancement Cardiovascular Magnetic Resonance in Patients With Sarcoidosis	Recruiting	NCT01745237
38	Role of Genetic Factors in the Development of Lung Disease	Recruiting	NCT00001532
39	Stromal Gene Expression During Pulmonary Sarcoidosis	Terminated	NCT00837668
40	Pulmonary Rehabilitation in Patients With Sarcoidosis	Terminated	NCT02044939	Not Applicable

Search NIH Clinical Center for Pulmonary Sarcoidosis

Cell-based therapeutics:

Data from LifeMap, the Embryonic Development and Stem Cells Database

Read about Pulmonary Sarcoidosis cell therapies at LifeMap Discovery.

Stem-cell-based therapeutic approaches for Pulmonary Sarcoidosis:

PDA001, Placenta-derived cells for pulmonary sarcoidosis

Embryonic/Adult Cultured Cells Related to Pulmonary Sarcoidosis:

Placenta-derived cells PMIDs: 22469567

Cochrane evidence based reviews: sarcoidosis, pulmonary

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Genetic Tests for Pulmonary Sarcoidosis

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Anatomical Context for Pulmonary Sarcoidosis

MalaCards organs/tissues related to Pulmonary Sarcoidosis:

⁴¹

Lung, T Cells, Lymph Node, Heart, Skin, Liver, Eye

Sources

Publications for Pulmonary Sarcoidosis

Articles related to Pulmonary Sarcoidosis:

(show top 50) (show all 974)

#	Title	Authors	Year
1	Proangiogenic and Profibrotic Markers in Pulmonary Sarcoidosis. ( 29679363 )	Tuleta I....Skowasch D.	2018
2	Pulmonary sarcoidosis. ( 29625772 )	Spagnolo P....Wells A.U.	2018
3	The Curious Omission of Treatment as a Predictor of Pulmonary Sarcoidosis Mortality. ( 29884262 )	Reich J.M.	2018
4	Pulmonary Sarcoidosis following Etanercept Treatment for Ankylosing Spondylitis: A Case Report and Review of the Literature. ( 29610700 )	Majjad A....El Maghraoui A.	2018
5	A rare presentation of pulmonary sarcoidosis as a solitary lung mass: a case report. ( 29650028 )	Kelleher D.W....Ryu C.	2018
6	Pulmonary sarcoidosis with and without extrapulmonary involvement: a cross-sectional and observational study in China. ( 29453299 )		2018
7	Pulmonary Sarcoidosis Induced by Anti-Tumor Necrosis Factor Therapy: A Paradoxical Effect. ( 29667945 )		2018
8	Right ventricular involvement and the extent of left ventricular enhancement with magnetic resonance predict adverse outcome in pulmonary sarcoidosis. ( 28967698 )		2018
9	Prognostic significance of ventricular late potentials in patients with pulmonary sarcoidosis. ( 29857850 )		2018
10	Expression analysis of extracellular microRNA in bronchoalveolar lavage fluid from patients with pulmonary sarcoidosis. ( 29956871 )		2018
11	Atypical HRCT manifestations of pulmonary sarcoidosis. ( 29124658 )		2018
12	Th17-lineage cells in pulmonary sarcoidosis and LAPfgren's syndrome: Friend or foe? ( 29310925 )		2018
13	Daily home spirometry to detect early steroid treatment effects in newly treated pulmonary sarcoidosis. ( 29348185 )		2018
14	Evidence for M2 macrophages in granulomas from pulmonary sarcoidosis: A new aspect of macrophage heterogeneity. ( 29107084 )		2018
15	Ocular Manifestations of Biopsy-Proven Pulmonary Sarcoidosis in Korea. ( 29785303 )		2018
16	Can pulmonary sarcoidosis trigger a progressive multifocal leukoencephalopathy? Considerations from a case series and a review of literature. ( 30455904 )	Gamperl I...Fertl E	2018
17	Pulmonary Sarcoidosis in a patient with Multiple Sclerosis on daclizumab monotherapy. ( 29276998 )	Rhone EE...Silber E	2018
18	Why do people die from pulmonary sarcoidosis? ( 30004991 )	Kouranos V...Walsh S	2018
19	Are CT findings of pulmonary sarcoidosis ever sufficient for a presumptive diagnosis? ( 30007852 )	Naidich D	2018
20	Atypical CT findings of pulmonary sarcoidosis: A case report. ( 30024519 )	Lee HN...Song R	2018
21	In Situ Humoral Immunity to Vimentin in HLA-DRB1*03+ Patients With Pulmonary Sarcoidosis. ( 30038611 )	Kinloch AJ...Grunewald J	2018
22	Molecular profiling of regulatory T cells in pulmonary sarcoidosis. ( 30049532 )	Kachamakova-Trojanowska N...Dulak J	2018
23	Whole-exome sequencing identifies rare genetic variations in German families with pulmonary sarcoidosis. ( 30054724 )	Kishore A...Petrek M	2018
24	T. marneffei infection complications in an HIV-negative patient with pre-existing pulmonary sarcoidosis: a rare case report. ( 30097066 )	Yu X...Zhang L	2018
25	Interleukin 33 ameliorates disturbance of regulatory T cells in pulmonary sarcoidosis. ( 30195819 )	Zhang B...Wen Y	2018
26	Relationship between CT activity score with lung function and the serum angiotensin converting enzyme in pulmonary sarcoidosis on chest HRCT. ( 30200130 )	Duan J...Xie S	2018
27	Reprint of: The pathology of pulmonary sarcoidosis: update. ( 30262157 )	Ma Y...Koss M	2018
28	Bosentan for patients with steroid-resistant pulmonary sarcoidosis: a randomised controlled trial. ( 30378090 )	Hostettler K...Brutsche M	2018
29	Bronchial purging: Atypical pulmonary sarcoidosis presenting with bronchorrhea. ( 30381570 )	Mahapatra S...Talwar D	2018
30	Quantitative image analysis using chest computed tomography in the evaluation of lymph node involvement in pulmonary sarcoidosis and tuberculosis. ( 30475907 )	Lee CU...Choi JC	2018
31	Pulmonary Sarcoidosis Presenting with Thin-walled Small Cysts. ( 28420852 )	Kushima H....Watanabe K.	2017
32	Repository corticotropin for Chronic Pulmonary Sarcoidosis. ( 28353116 )	Baughman R.P....Lower E.E.	2017
33	Pulmonary Sarcoidosis. ( 28750459 )	Bonifazi M....Renzoni E.A.	2017
34	[Analysis of an association of TNF -308G&gt;A polymorphism with a risk for pulmonary sarcoidosis in the Russian population of the Republic of Karelia]. ( 28378732 )	Malysheva I.E....Barysheva O.Y.	2017
35	Bioinformatics analysis of gene expression profile data to screen key genes involved in pulmonary sarcoidosis. ( 27682024 )	Li H....Yang H.	2017
36	Pulmonary Sarcoidosis That Developed During the Treatment of a Patient With Crohn Disease by Using Infliximab. ( 28503520 )	Kim T.K....Eun H.S.	2017
37	Gastric and pulmonary sarcoidosis complicated by hypercalcemia and acute renal failure: Case report and literature review. ( 28671172 )	Deepa A.S....Santhosh H.K.	2017
38	Adalimumab-induced pulmonary sarcoidosis not progressing upon treatment with etanercept. ( 28124746 )	Jung J.H....Song G.G.	2017
39	No evidence found for an association between prednisone dose and FVC change in newly-treated pulmonary sarcoidosis. ( 29137908 )	Broos C.E....van den Blink B.	2017
40	Ulcerating Nodules within Tattoos Revealing Pulmonary Sarcoidosis. ( 28881429 )	Adler B.L....Haden A.D.	2017
41	Extensively disturbance of regulatory T cells - Th17 cells balance in stage II pulmonary sarcoidosis. ( 29104468 )	Ding J....Wen Y.	2017
42	Pulmonary Sarcoidosis Activation following Neoadjuvant Pembrolizumab plus Chemotherapy Combination Therapy in a Patient with Non-Small Cell Lung Cancer: A Case Report. ( 29515398 )	Fakhri G....Tfayli A.	2017
43	Living Kidney Donation From a Donor With Pulmonary Sarcoidosis: AA Case Report and Review of the Literature. ( 28583552 )	Kono M....Shirakawa H.	2017
44	Strategies for identifying pulmonary sarcoidosis patients at risk for severe or chronic disease. ( 28076979 )	Judson M.A.	2017
45	Pulmonary sarcoidosis mimicking tuberculosis: Importance of the galaxy sign on thoracic computed tomography. ( 28863878 )	Gorospe SarasA_a L....de La Puente-Bujidos C.	2017
46	Pulmonary sarcoidosis: an update. ( 27766929 )	Ramachandraiah V....Chandy D.	2017
47	Osteoprotegerin/sRANKL Signaling System in Pulmonary Sarcoidosis: A Bronchoalveolar Lavage Study. ( 27826889 )		2017
48	Immunology repertoire study of pulmonary sarcoidosis T cells in CD4+, CD8+ PBMC and tissue. ( 29163767 )		2017
49	Resolution rate of pulmonary sarcoidosis and its related factors in a Japanese population. ( 28712145 )		2017
50	Predictors of Mortality in Pulmonary Sarcoidosis. ( 28728933 )		2017

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Genes for Pulmonary Sarcoidosis

Genes related to Pulmonary Sarcoidosis (0 elite genes):

(show all 14)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	TNF	Tumor Necrosis Factor	Protein Coding	30.02	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	8255014 8036337 8432140 (more) 10335007 10899249 9344512 20070603 8589268 18610674 8219777 9154873 8893383 11091281 9927365 2299255 14512673 17072062 8449077 7615305 7679346 10400819
2	CXCR3	C-X-C Motif Chemokine Receptor 3	Protein Coding	29.73	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	17052298 19386686 11390417 (more) 9834133 17550373
3	IFNG	Interferon Gamma	Protein Coding	29.39	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	11174201 17937104 8140295 (more) 11390417 1898846 11069843 10806168 11091281 11123348 11208635
4	IL2	Interleukin 2	Protein Coding	27.47	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	1327551 8509065 1477028 (more) 11208635 7679346 8752945 11091281
5	IL2RA	Interleukin 2 Receptor Subunit Alpha	Protein Coding	26.99	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	1678021 1870863
6	ICAM1	Intercellular Adhesion Molecule 1	Protein Coding	26.9	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	7905208 7904545 1680610 (more) 1355420 11817671 9042667 11989775
7	IL18	Interleukin 18	Protein Coding	25.98	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	11174201 16734560 11069843 (more) 19218675 11123348
8	CXCL5	C-X-C Motif Chemokine Ligand 5	Protein Coding	25.38	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	17052298
9	CCR5	C-C Motif Chemokine Receptor 5 (Gene/Pseudogene)	Protein Coding	25.21	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	19679608 11803051
10	CSF2	Colony Stimulating Factor 2	Protein Coding	25.01	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	1511959 2202340
11	ACE	Angiotensin I Converting Enzyme	Protein Coding	24.94	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵	15109125 1345229 8532961 (more) 1965306 8468809 11855079 19722355
12	CCL2	C-C Motif Chemokine Ligand 2	Protein Coding	24.59	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	8118632 9475238
13	SFTPD	Surfactant Protein D	Protein Coding	24.18	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	11694811 14665489
14	CCL5	C-C Motif Chemokine Ligand 5	Protein Coding	23.31	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	12449175

Sources

Variations for Pulmonary Sarcoidosis

Sources

Expression for Pulmonary Sarcoidosis

Search GEO for disease gene expression data for Pulmonary Sarcoidosis.

Sources

Pathways for Pulmonary Sarcoidosis

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

(show top 50) (show all 67)

#	Super pathways	Score	Top Affiliating Genes
1	Innate Immune System ⁶⁶ Show member pathways Immune System ⁶⁶ Neutrophil degranulation ⁶⁶	14.01	CCL2 CCL5 CCR5 CSF2 ICAM1 IFNG
2	ERK Signaling ⁶⁴ Show member pathways ILK Signaling ⁶⁴ MAPK Signaling ⁶⁴ Molecular Mechanisms of Cancer ⁶⁴ Rho Family GTPases ⁶⁴	13.84	CCL2 CCL5 CCR5 CSF2 CXCL5 CXCR3
3	PEDF Induced Signaling ⁶⁴ Show member pathways all-trans-Retinoic Acid Signaling in Brain ⁶⁴ Cytokine-cytokine receptor interaction ³⁷ Endothelin-1 Signaling Pathway ⁶⁴ Glucocorticoid Receptor Signaling ⁶⁴ IL-6 Pathway ⁶⁴ MIF Mediated Glucocorticoid Regulation ⁶⁴ MIF Regulation of Innate Immune Cells ⁶⁴ NFAT Signaling and Lymphocyte Interactions ⁶⁴ PGC1Alpha Pathway ⁶⁴ RAR-Gamma-RXR-Alpha Degradation ⁶⁴ STAT3 Pathway ⁶⁴	13.63	CCL2 CCL5 CCR5 CSF2 CXCL5 CXCR3
4	TGF-Beta Pathway ⁶⁴ Show member pathways JAK-STAT Pathway ⁶⁴ JNK Pathway ⁶⁴ MAPK Family Pathway ⁶⁴ Regulation of eIF4 and p70S6K ⁶⁴ SOCS Pathway ⁶⁴	13.55	CCL2 CCL5 ICAM1 IFNG IL18 IL2
5	Akt Signaling ⁶⁴ Show member pathways p38 Signaling ⁶⁴ Tec Kinases Signaling ⁶⁴	13.36	CCL2 CCL5 CCR5 CSF2 CXCL5 CXCR3
6	Integrin Pathway ⁶⁴ Show member pathways FAK1 Signaling ⁶⁴ GnRH Signaling ⁶⁴ Inhibition of Angiogenesis by TSP1 ⁶⁴ Transendothelial Migration of Leukocytes ⁶⁴ UPA-UPAR Pathway ⁶⁴	13.35	CCL2 CCL5 CCR5 CXCL5 CXCR3 ICAM1
7	Cytokine Signaling in Immune system ⁶⁶ Show member pathways Signaling by Interleukins ⁶⁶	13.29	CCL2 CCL5 CCR5 CSF2 ICAM1 IFNG
8	PAK Pathway ⁶⁴ Show member pathways Antioxidant Action of Vitamin-C ⁶⁴ Epithelial Adherens Junctions ⁶⁴	13.17	CCL2 CCL5 CCR5 CSF2 CXCL5 CXCR3
9	Human cytomegalovirus infection ³⁷ Show member pathways Hepatitis B ³⁷ Human immunodeficiency virus 1 infection ³⁷ Kaposi sarcoma-associated herpesvirus infection ³⁷	13.08	CCL2 CCL5 CCR5 CSF2 ICAM1 TNF
10	Toll-like Receptor Signaling Pathway ³⁷ ¹ Show member pathways Chagas disease (American trypanosomiasis) ³⁷ NOD-like receptor signaling pathway ³⁷ NOD-like Receptor Signaling Pathways ⁶⁵ Regulation of toll-like receptor signaling pathway ¹	13.01	ACE CCL2 CCL5 IFNG IL18 IL2
11	Allograft rejection ¹ ³⁷ Show member pathways Antigen processing and presentation ³⁷ Asthma ³⁷ Autoimmune thyroid disease ³⁷ CTL Mediated Apoptosis ⁶⁴ Graft-versus-host disease ³⁷ Intestinal immune network for IgA production ³⁷ THC Differentiation Pathway ⁶⁴ Type I diabetes mellitus ³⁷ Viral myocarditis ³⁷	12.9	ICAM1 IFNG IL18 IL2 IL2RA TNF
12	CCR5 Pathway in Macrophages ⁶⁴ Show member pathways Androgen Signaling ⁶⁴ Chemokine Signaling ⁶⁴ Chemokine signaling pathway ³⁷	12.88	CCL2 CCL5 CCR5 CXCL5 CXCR3
13	Influenza A ³⁷ Show member pathways Herpes simplex infection ³⁷ Measles ³⁷	12.72	CCL2 CCL5 ICAM1 IFNG IL18 IL2
14	Immune response NFAT in immune response ²² Show member pathways Immune response CD28 signaling ²² Immune response ICOS pathway in T-helper cell ²² Immune response T cell receptor signaling pathway ²²	12.67	IFNG IL18 IL2 IL2RA TNF
15	Th17 cell differentiation ³⁷ Show member pathways IL-22 Pathway ⁶⁴ Immune response IL-22 signaling pathway ²² Inflammatory bowel disease (IBD) ³⁷ Th1 and Th2 cell differentiation ³⁷	12.64	IFNG IL18 IL2 IL2RA TNF
16	Immune response IL-23 signaling pathway ²² Show member pathways Angiopoietin receptor Tie2-mediated signaling ¹ Angiopoietin-TIE2 Signaling ⁶⁴ Development Angiopoietin - Tie2 signaling ²² Development PDGF signaling via STATs and NF-kB ²² IL23-mediated signaling events ¹ Immune response IL-10 signaling pathway ²² Rac1/Pak1/p38/MMP-2 pathway ¹	12.63	CCL2 IFNG IL18 IL2 TNF
17	NF-kappaB Signaling ⁴	12.62	CCL2 CCL5 IFNG IL2 IL2RA TNF
18	Immune response Role of DAP12 receptors in NK cells ²² Show member pathways Immune response CD16 signaling in NK cells ²² Natural killer cell mediated cytotoxicity ³⁷	12.56	CSF2 ICAM1 IFNG IL2 TNF
19	T cell receptor signaling pathway ³⁷ Show member pathways T-Cell antigen Receptor (TCR) Signaling Pathway ¹ T-Cell antigen Receptor (TCR) pathway during Staphylococcus aureus infection ¹	12.48	CCR5 CSF2 IFNG IL2 TNF
20	Human T-cell leukemia virus 1 infection ³⁷	12.47	CSF2 ICAM1 IL2 IL2RA TNF
21	JAK-STAT signaling pathway (KEGG) ³⁷ Show member pathways Interleukin-19, 20, 22, 24 ⁶⁶ Jak/STAT Signaling Pathway ⁶⁵	12.44	CCR5 CSF2 IFNG IL2 IL2RA
22	IL-17 Family Signaling Pathways ⁶⁵ Show member pathways IL17 signaling pathway ¹ IL-17 signaling pathway ³⁷ Interleukin-17 signaling ⁶⁶ Mucin expression in CF via IL-6, IL-17 signaling pathways ²²	12.39	CCL2 CSF2 CXCL5 IFNG TNF
23	Selenium Micronutrient Network ¹ Show member pathways Folate Metabolism ¹ Metabolism of ingested MeSeO2H into MeSeH ⁶⁶ thioredoxin pathway ¹ Vitamin B12 Metabolism ¹	12.39	CCL2 CCL5 ICAM1 IFNG IL2 TNF
24	Immune response IFN alpha/beta signaling pathway ²² Show member pathways Cytokine Network ⁶⁴ Interferon alpha/beta signaling ⁶⁶ Regulation of IFNA signaling ⁶⁶	12.31	IFNG IL18 IL2 IL2RA TNF
25	G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins ²² Show member pathways G-protein signaling G-Protein alpha-12 signaling pathway ²²	12.26	CCL2 CCL5 CCR5 CXCL5 CXCR3 ICAM1
26	Fluid shear stress and atherosclerosis ³⁷	12.15	CCL2 ICAM1 IFNG TNF
27	Th1 Differentiation Pathway ⁶⁵ Show member pathways IL27-mediated signaling events ¹ Th17 Differentiation Pathway ⁶⁵	12.11	IFNG IL18 IL2 TNF
28	Spinal Cord Injury ¹	12.1	CCL2 ICAM1 IFNG IL2 TNF
29	Chemokine Superfamily Pathway: Human/Mouse Ligand-Receptor Interactions ⁶⁵ Show member pathways Chemokine receptors bind chemokines ⁶⁶	12.08	CCL2 CCL5 CCR5 CXCL5 CXCR3
30	Immune response IFN gamma signaling pathway ²² Show member pathways IFN-gamma pathway ¹	12.08	CCL2 CCL5 ICAM1 IFNG IL18 IL2
31	Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers ⁶⁵	12.07	CSF2 IFNG IL2 IL2RA TNF
32	IL12-mediated signaling events ¹ Show member pathways Immune response IL-12-induced IFN-gamma production ²²	12.05	CCR5 IFNG IL18 IL2 IL2RA
33	IL-2 Signaling Pathway ¹ Show member pathways IL2-mediated signaling events ¹ IL-5 Signaling Pathway ¹	12.04	IFNG IL2 IL2RA
34	Interleukin-4 and 13 signaling ⁶⁶	12.04	CCL2 ICAM1 IL18 TNF
35	Microglia Activation During Neuroinflammation: Overview ⁶⁵ Show member pathways Microglia Activation During Neuroinflammation: Microglia Activation ⁶⁵	12.01	CSF2 IFNG TNF
36	Jak-Stat Signaling Pathway (sino) ⁶⁷	11.94	CCR5 IFNG IL2 IL2RA
37	AGE-RAGE signaling pathway in diabetic complications ³⁷	11.9	CCL2 ICAM1 TNF
38	Hematopoietic cell lineage ³⁷	11.89	CSF2 IL2RA TNF
39	Amoebiasis ³⁷	11.89	CSF2 IFNG TNF
40	TNF signaling pathway ³⁷	11.89	CCL2 CCL5 CSF2 CXCL5 ICAM1 TNF
41	Glucocorticoid receptor regulatory network ¹	11.88	CSF2 ICAM1 IFNG IL2
42	Salmonella infection (KEGG) ³⁷	11.84	CSF2 IFNG IL18
43	Dendritic Cells Developmental Lineage Pathway ⁶⁵	11.82	CSF2 IFNG IL2 TNF
44	Calcineurin-regulated NFAT-dependent transcription in lymphocytes ¹ Show member pathways Calcium signaling in the CD4+ TCR pathway ¹	11.82	CSF2 IFNG IL2 IL2RA TNF
45	Lung fibrosis ¹	11.75	CCL2 CCL5 CSF2 TNF
46	Downstream signaling in naive CD8+ T cells ¹ Show member pathways Ras signaling in the CD4+ TCR pathway ¹	11.73	IFNG IL2 IL2RA TNF
47	Photodynamic therapy-induced NF-kB survival signaling ¹ Show member pathways Immune response MIF-mediated glucocorticoid regulation ²²	11.69	CSF2 ICAM1 IFNG IL2 TNF
48	Innate Lymphoid Cell Differentiation Pathways ⁶⁵	11.64	CXCR3 IFNG IL18 IL2 IL2RA TNF
49	MSP-RON Signaling ⁶⁴	11.62	CCL2 IFNG IL18 TNF
50	Photodynamic therapy-induced AP-1 survival signaling. ¹	11.6	IFNG IL2 TNF

Sources

GO Terms for Pulmonary Sarcoidosis

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

#	Name	GO ID	Score	Top Affiliating Genes
1	extracellular region	GO:0005576	9.85	ACE CCL2 CCL5 CSF2 CXCL5 IFNG
2	cell surface	GO:0009986	9.65	CCR5 CXCR3 ICAM1 IL2RA TNF
3	external side of plasma membrane	GO:0009897	9.43	ACE CCR5 CXCR3 ICAM1 IL2RA TNF
4	extracellular space	GO:0005615	9.36	ACE CCL2 CCL5 CSF2 CXCL5 ICAM1

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

(show top 50) (show all 55)

#	Name	GO ID	Score	Top Affiliating Genes
1	inflammatory response	GO:0006954	9.98	CCL2 CCL5 CCR5 CXCL5 CXCR3 IL18
2	positive regulation of ERK1 and ERK2 cascade	GO:0070374	9.97	CCL2 CCL5 ICAM1 TNF
3	cell surface receptor signaling pathway	GO:0007166	9.96	CCL2 CCR5 CXCR3 IFNG IL2RA
4	cell-cell signaling	GO:0007267	9.95	CCL5 CCR5 CXCL5 IL18 IL2
5	positive regulation of NF-kappaB transcription factor activity	GO:0051092	9.89	ICAM1 IL18 TNF
6	defense response	GO:0006952	9.89	CCR5 CXCL5 TNF
7	chemotaxis	GO:0006935	9.89	CCL2 CCL5 CCR5 CXCL5 CXCR3
8	cellular response to tumor necrosis factor	GO:0071356	9.88	CCL2 CCL5 ICAM1
9	response to virus	GO:0009615	9.87	CCL5 IFNG TNF
10	cellular response to interferon-gamma	GO:0071346	9.87	CCL2 CCL5 ICAM1
11	regulation of signaling receptor activity	GO:0010469	9.86	CCL2 CCL5 CSF2 CXCL5 IFNG IL18
12	neutrophil chemotaxis	GO:0030593	9.85	CCL2 CCL5 CXCL5
13	cellular response to interleukin-1	GO:0071347	9.85	CCL2 CCL5 ICAM1
14	positive regulation of inflammatory response	GO:0050729	9.85	IL18 IL2 TNF
15	cell chemotaxis	GO:0060326	9.85	CCL2 CCL5 CCR5 CXCL5 CXCR3
16	positive regulation of phosphatidylinositol 3-kinase signaling	GO:0014068	9.84	CCL5 IL18 TNF
17	regulation of insulin secretion	GO:0050796	9.83	CCL5 IFNG TNF
18	positive regulation of T cell proliferation	GO:0042102	9.83	CCL5 IL2 IL2RA
19	cellular response to organic cyclic compound	GO:0071407	9.83	CCL2 CCL5 IL18 TNF
20	humoral immune response	GO:0006959	9.8	CCL2 IFNG TNF
21	positive regulation of smooth muscle cell proliferation	GO:0048661	9.8	CCL5 IL18 TNF
22	chemokine-mediated signaling pathway	GO:0070098	9.8	CCL2 CCL5 CCR5 CXCL5 CXCR3
23	cellular response to lipopolysaccharide	GO:0071222	9.8	CCL2 CCR5 CSF2 CXCL5 ICAM1 TNF
24	positive regulation of interferon-gamma production	GO:0032729	9.79	IL18 IL2 TNF
25	positive regulation of nitric oxide biosynthetic process	GO:0045429	9.78	ICAM1 IFNG TNF
26	lipopolysaccharide-mediated signaling pathway	GO:0031663	9.78	CCL2 CCL5 IL18 TNF
27	positive regulation of tyrosine phosphorylation of STAT protein	GO:0042531	9.77	CCL5 CSF2 IFNG IL18 IL2
28	protein kinase B signaling	GO:0043491	9.76	CCL2 CCL5 TNF
29	MAPK cascade	GO:0000165	9.76	CCL2 CCL5 CCR5 CSF2 IL18 IL2
30	positive regulation of activated T cell proliferation	GO:0042104	9.74	IL18 IL2 IL2RA
31	eosinophil chemotaxis	GO:0048245	9.72	CCL2 CCL5
32	positive regulation of osteoclast differentiation	GO:0045672	9.71	IFNG TNF
33	positive regulation of T cell differentiation	GO:0045582	9.71	IL2 IL2RA
34	regulation of regulatory T cell differentiation	GO:0045589	9.71	IFNG IL2 IL2RA
35	dendritic cell chemotaxis	GO:0002407	9.7	CCL5 CCR5
36	positive regulation of macrophage derived foam cell differentiation	GO:0010744	9.7	CSF2 IL18
37	positive regulation of membrane protein ectodomain proteolysis	GO:0051044	9.7	IFNG TNF
38	positive regulation of interleukin-17 production	GO:0032740	9.69	IL18 IL2
39	positive regulation of podosome assembly	GO:0071803	9.69	CSF2 TNF
40	macrophage chemotaxis	GO:0048246	9.69	CCL2 CCL5 SFTPD
41	interleukin-2-mediated signaling pathway	GO:0038110	9.68	IL2 IL2RA
42	neutrophil activation	GO:0042119	9.68	CCL5 IL18
43	negative regulation of lymphocyte proliferation	GO:0050672	9.65	IL2 IL2RA
44	negative regulation of macrophage apoptotic process	GO:2000110	9.65	CCL5 CCR5
45	positive regulation of leukocyte adhesion to vascular endothelial cell	GO:1904996	9.64	ICAM1 TNF
46	positive regulation of neuroinflammatory response	GO:0150078	9.64	IL18 TNF
47	positive regulation of tissue remodeling	GO:0034105	9.63	IL18 IL2
48	positive regulation of interleukin-23 production	GO:0032747	9.62	CSF2 IFNG
49	cytokine-mediated signaling pathway	GO:0019221	9.61	CCL2 CCL5 CCR5 CSF2 ICAM1 IL18
50	positive regulation of calcidiol 1-monooxygenase activity	GO:0060559	9.6	IFNG TNF

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

#	Name	GO ID	Score	Top Affiliating Genes
1	Ras guanyl-nucleotide exchange factor activity	GO:0005088	9.33	CSF2 IL2 IL2RA
2	chemokine receptor activity	GO:0004950	9.26	CCR5 CXCR3
3	cytokine activity	GO:0005125	9.17	CCL2 CCL5 CSF2 IFNG IL18 IL2
4	chemokine activity	GO:0008009	9.13	CCL2 CCL5 CXCL5

Sources

Sources for Pulmonary Sarcoidosis

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

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⁴⁸ NCBI Bookshelf

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⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

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⁵⁵ Novoseek

⁵⁶ Novus Biologicals

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⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

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⁶² PubMed

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⁷¹ TGDB

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⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia