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SS2
MCID: SRC023
MIFTS: 43

Sarcoidosis 2 (SS2)

Categories: Bone diseases, Endocrine diseases, Eye diseases, Genetic diseases, Immune diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
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Aliases & Classifications for Sarcoidosis 2

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MalaCards integrated aliases for Sarcoidosis 2:

Name: Sarcoidosis 2 56 73 29 6
Sarcoidosis, Susceptibility to, 2 56 13
Sarcoidosis 73 71
Ss2 56 73
Sarcoidosis, Susceptibility to, Type 2 39
Besnier-Boeck-Schaumann Disease 73
Boeck Sarcoid 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
variable features may be present


HPO:

31
sarcoidosis 2:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Immune diseases Neuronal diseases Eye diseases Nephrological diseases Respiratory diseases Bone diseases Endocrine diseases
See all MalaCards categories (disease lists)


External Ids:

OMIM 56 612387
MeSH 43 D012507
MedGen 41 C2676468
UMLS 71 C0036202
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Summaries for Sarcoidosis 2

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UniProtKB/Swiss-Prot : 73 Sarcoidosis 2: An idiopathic, systemic, inflammatory disease characterized by the formation of immune granulomas in involved organs. Granulomas predominantly invade the lungs and the lymphatic system, but also skin, liver, spleen, eyes and other organs may be involved.

MalaCards based summary : Sarcoidosis 2, also known as sarcoidosis, susceptibility to, 2, is related to skin sarcoidosis and sarcoidosis 3, and has symptoms including snoring and coughing. An important gene associated with Sarcoidosis 2 is BTNL2 (Butyrophilin Like 2). The drugs Azathioprine and Riociguat have been mentioned in the context of this disorder. Affiliated tissues include lung, lymph node and skin, and related phenotypes are splenomegaly and hepatomegaly

More information from OMIM: 612387
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Related Diseases for Sarcoidosis 2

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Diseases in the Sarcoidosis 1 family:

Sarcoidosis 2 Sarcoidosis 3

Diseases related to Sarcoidosis 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1360)
# Related Disease Score Top Affiliating Genes
1 skin sarcoidosis 12.6
2 sarcoidosis 3 12.4
3 hypercalcemic sarcoidosis 12.4
4 blau syndrome 12.4
5 neurosarcoidosis 12.2
6 melkersson-rosenthal syndrome 11.7
7 pars planitis 11.6
8 uveoparotid fever 11.6
9 orofacial granulomatosis 11.6
10 interstitial lung disease 11.5
11 beryllium disease 11.5
12 intermediate uveitis 11.5
13 progressive multifocal leukoencephalopathy 11.5
14 retinal vasculitis 11.5
15 rickets 11.5
16 granulomatous mastitis 11.4
17 primary cutaneous amyloidosis 11.4
18 sarcoid meningitis 11.2
19 hypogonadotropic hypogonadism 11.1
20 erythema nodosum, idiopathic 11.1
21 granulomatous lobular mastitis 11.1
22 idiopathic hypertrophic pachymeningitis 11.1
23 uveitis 10.8
24 lung disease 10.8
25 pulmonary fibrosis 10.7
26 atrioventricular block 10.6
27 splenomegaly 10.5
28 pulmonary fibrosis, idiopathic 10.5
29 autoimmune disease 10.5
30 lymphoma 10.5
31 pulmonary tuberculosis 10.5
32 iridocyclitis 10.5
33 annular erythema 10.5
34 hyperglobulinemic purpura 10.5
35 progressive muscular dystrophy 10.5
36 mycobacterium tuberculosis 1 10.5
37 extrinsic allergic alveolitis 10.5
38 interstitial nephritis 10.5
39 kidney disease 10.4
40 cardiac conduction defect 10.4
41 congestive heart failure 10.4
42 myocarditis 10.4
43 crohn's disease 10.4
44 myopathy 10.4
45 neuropathy 10.4
46 portal hypertension 10.4
47 glomerulonephritis 10.4
48 primary biliary cirrhosis 10.4
49 nephrocalcinosis 10.4
50 liver cirrhosis 10.4

Comorbidity relations with Sarcoidosis 2 via Phenotypic Disease Network (PDN):


Heart Disease Postinflammatory Pulmonary Fibrosis

Graphical network of the top 20 diseases related to Sarcoidosis 2:



Diseases related to Sarcoidosis 2
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Symptoms & Phenotypes for Sarcoidosis 2

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Human phenotypes related to Sarcoidosis 2:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 31 HP:0001744
2 hepatomegaly 31 HP:0002240
3 dyspnea 31 HP:0002094
4 facial palsy 31 HP:0010628
5 uveitis 31 HP:0000554
6 interstitial pulmonary abnormality 31 HP:0006530
7 erythema nodosum 31 HP:0012219

Symptoms via clinical synopsis from OMIM:

56
Abdomen Spleen:
splenomegaly

Respiratory:
dyspnea

Skin Nails Hair Skin:
erythema nodosum

Hematology:
bone marrow involvement may cause pancytopenia

Neurologic Central Nervous System:
neurosarcoidosis
bell's palsy

Abdomen Liver:
hepatomegaly

Head And Neck Eyes:
uveitis

Respiratory Lung:
bilateral hilar adenopathy
interstitial lung disease
lung fibrosis
hilar enlargement

Head And Neck Mouth:
enlarged parotid glands

Laboratory Abnormalities:
noncaseating granulomas on biopsy
abnormalities of calcium metabolism

Clinical features from OMIM:

612387

UMLS symptoms related to Sarcoidosis 2:


snoring, coughing
Sources

Drugs & Therapeutics for Sarcoidosis 2

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Drugs for Sarcoidosis 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 214)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Azathioprine Approved Phase 4 446-86-6 2265
2
Riociguat Approved Phase 4 625115-55-1
3
Remifentanil Approved Phase 4 132875-61-7 60815
4
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 5311068 68602
5
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
6
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
7
Racepinephrine Approved Phase 4 329-65-7 838
8
Iloprost Approved, Investigational Phase 4 78919-13-8 6443959
9
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
10
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
11
tannic acid Approved Phase 4 1401-55-4
12
Benzocaine Approved, Investigational Phase 4 94-09-7, 1994-09-7 2337
13
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
14
Sodium citrate Approved, Investigational Phase 4 68-04-2
15
Nicotine Approved Phase 4 54-11-5 942 89594
16
Acetylcholine Approved, Investigational Phase 4 51-84-3 187
17
leucovorin Approved Phase 4 58-05-9 6006 143
18
Methotrexate Approved Phase 4 59-05-2, 1959-05-2 126941
19
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
20
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
21
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
22 Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
23
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
24
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
25
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
26
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
27
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
28
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
29 Analgesics, Non-Narcotic Phase 4
30 Analgesics Phase 4
31 Anti-Inflammatory Agents, Non-Steroidal Phase 4
32 Adrenergic alpha-Agonists Phase 4
33 Narcotics Phase 4
34 Adrenergic Agents Phase 4
35 Epinephryl borate Phase 4
36 Analgesics, Opioid Phase 4
37 Adrenergic Agonists Phase 4
38 Vasodilator Agents Phase 4
39 Dopamine Agents Phase 4
40 Dexmethylphenidate Hydrochloride Phase 4
41 Anesthetics, General Phase 4
42 Hypnotics and Sedatives Phase 4
43 Anesthetics, Intravenous Phase 4
44 Protective Agents Phase 4
45 Neuroprotective Agents Phase 4
46 Antiemetics Phase 4
47 Radiopharmaceuticals Phase 4
48 Ergocalciferols Phase 4
49 Trace Elements Phase 4
50 Citrate Phase 4

Interventional clinical trials:

(show top 50) (show all 288)
# Name Status NCT ID Phase Drugs
1 Use of Roflumilast to Prevent Exacerbations in Fibrotic Sarcoidosis Patients (REFS) Unknown status NCT01830959 Phase 4 Roflumilast;Placebo
2 ACTHAR Gel for Chronic Pulmonary Sarcoidosis (ACPS) Unknown status NCT02188017 Phase 4 Acthar gel
3 A Double Blind, Placebo Controlled Trial of Oral Riociguat for Sarcoidosis Associated Pulmonary Hypertension Unknown status NCT02625558 Phase 4 Riociguat;Placebo
4 Pirfenidone for Progressive Fibrotic Sarcoidosis Unknown status NCT03260556 Phase 4 Pirfenidone;Placebos
5 Safety Evaluation of Dexmedetomidine Monitored Anesthesia Care for Endobronchial Ultrasound-guided Transbronchial Needle Aspiration Unknown status NCT01381627 Phase 4 Remifentanil;Dexmedetomidine
6 Inhaled Iloprost for Sarcoidosis Associated Pulmonary Hypertension Completed NCT00403650 Phase 4 Iloprost
7 Randomized, Double-Blind, Placebo-Controlled Study of Dexmethylphenidate Hydrochloride, (d-MPH) in the Treatment of Fatigue in Sarcoidosis Subjects. Completed NCT00361387 Phase 4 d-methylphenidate
8 Clinical Biomarkers of Disease Activity and Treatment Responses in Patients With CNS Sarcoidosis Treated With H.P. Acthar Gel Completed NCT02298491 Phase 4 H.P. Acthar Gel
9 Target-controlled Versus Manually-controlled Propofol Sedation in Flexible Bronchoscopy. A Randomized Non-inferiority Trial. Completed NCT02246023 Phase 4
10 Conventional Versus Ultrasound-guided Transbronchial Needle Aspiration, Using Rapid On-site Cytological Evaluation, for the Diagnosis of Hilar/Mediastinal Enlarged Lymph Nodes: a Randomized Controlled Trial. Completed NCT01658280 Phase 4
11 ACTHAR Therapy for Central Nervous System Sarcoidosis Recruiting NCT02920710 Phase 4 Repository Corticotropin Injection
12 d68Ga-DOTATATE PET/CT Assessment of Cardiac Sarcoidosis Recruiting NCT03549598 Phase 4 68Ga-DOTATATE PET/CT;18FDG PET/CT scan;13NH3 PET/CT scan
13 Efficacy and Safety of Two Glucocorticoid Regimens in the Treatment of Sarcoidosis: a Randomized Controlled Trial Recruiting NCT03265405 Phase 4 Low dose prednisolone;Medium dose prednisolone
14 Vitamin D Homeostasis in Sarcoidosis Active, not recruiting NCT03621553 Phase 4 Ergocalciferol;Placebo;Calcium Citrate with Vitamin D2
15 A Phase 4, Multicenter, Randomized, Double Blind, Placebo Controlled Pilot Study to Assess the Efficacy and Safety of Acthar Gel in Subjects With Pulmonary Sarcoidosis Active, not recruiting NCT03320070 Phase 4 Acthar Gel;Placebo
16 The PREDMETH Trial: Effectiveness of Methotrexate Versus Prednisolone as First-line Therapy for Pulmonary Sarcoidosis - A Randomized Controlled Trial Not yet recruiting NCT04314193 Phase 4 Methotrexate;Prednisolone
17 Use of CXCL9 as a Biomarker of Acthar Efficacy Not yet recruiting NCT02523092 Phase 4 Acthar gel
18 Modulation of Pulmonary Sarcoidosis by Nicotinic Acetylcholine Receptors Suspended NCT00701207 Phase 4 nicotine patch
19 Assessment of the Safety, Side Effects and Efficacy of Interventional Cryotherapy for the Eradication of Benign Airway Disease("ICE THE BAD") Terminated NCT00747461 Phase 4
20 Corticosteroid Sparing Effect of Methotrexate in Patients With Sarcoid- Associated Uveitis: A Double Blind, Randomized, Placebo Controlled-study -UVEXATE Terminated NCT00918554 Phase 4 Methotrexate;Placebo
21 Use of Thalidomide in Chronic Uveitis Terminated NCT00314665 Phase 4 Thalidomide
22 Protocol for a Randomized, Placebo-Controlled, Double-Blinded Trial to Study the Effects of Supplementary Omega-3 Fatty Acids on Serum C-Reactive Protein Levels Terminated NCT00578578 Phase 4
23 CArdiac Sarcoidosis Response TO steRoids (CASTOR) Trial Withdrawn NCT01210677 Phase 4 Prednisone
24 ACTHAR GEL for Sarcoidosis-Associated Calcium Dysregulation: An Open-label Pilot Study Unknown status NCT02155803 Phase 2, Phase 3 ACTHAR Gel (adrenocorticotropic hormone)
25 ACTHAR Gel for Cutaneous Sarcoidosis: An Open Label Trial Unknown status NCT02348905 Phase 2, Phase 3 ACTHAR Gel 40 units twice weekly;ACTHAR Gel 80 units twice weekly.
26 Imaging of Active Granulomas With [18F]FDG and Selected Inflammatory PET Tracers in Pulmonary Sarcoidosis Unknown status NCT02824419 Phase 2, Phase 3 Methionine;DOTANOC
27 Low-dose Dexamethasone in Newly Diagnosed Pulmonary Sarcoidosis Unknown status NCT01920919 Phase 3 Dexamethasone;Placebo
28 Optic Neuritis Treatment Trial (ONTT) Unknown status NCT00000146 Phase 3 Methylprednisolone;Prednisone
29 Ambrisentan (Letairis) for Sarcoidosis Associated Pulmonary Hypertension Completed NCT00851929 Phase 2, Phase 3 Ambrisentan
30 Tadalafil for Sarcoidosis Associated Pulmonary Hypertension Completed NCT01324999 Phase 2, Phase 3 Tadalafil
31 Randomized Controlled Trial of Thalidomide vs Placebo in Skin Sarcoidosis Completed NCT00305552 Phase 3 THALIDOMIDE
32 The Efficacy and Safety of CC-10004 in Chronic Cutaneous Sarcoidosis Completed NCT00794274 Phase 2, Phase 3 CC-100004
33 Hydroxychloroquine as Steroid-Sparing Agent in Pulmonary Sarcoidosis (HySSAS). A Multicenter, Prospective, Controlled, Randomized Trial. Completed NCT02200146 Phase 3 Prednisone;Hydroxychloroquine + Prednisone
34 Determination of the Efficacy and Safety of the Seasonal Influenza Vaccine Among Patients Suffering From Sarcoidosis. Completed NCT01687517 Phase 3 Seasonal influenza vaccine available for the 2012-2013 vaccine campaign
35 Use of Armodafinil (R-modafinil) for Fatigue in Sarcoidosis Completed NCT00555347 Phase 2, Phase 3 Armodafinil;Placebo
36 Endosonography (EUS and EBUS) vs Conventional Bronchoscopy for the Diagnosis of Sarcoidosis: a Randomized Trial Completed NCT00872612 Phase 3
37 Double Blind, Randomized Trial of Bosentan for Sarcoidosis Associated Pulmonary Hypertension Completed NCT00581607 Phase 2, Phase 3 Bosentan;Placebo;Bosentan;Placebo
38 A Multicenter, Randomized, Double-blind, Placebo-controlled Trial Evaluating the Safety and Efficacy of Infliximab (Remicade�) in Subjects With Chronic Sarcoidosis With Pulmonary Involvement. Completed NCT00073437 Phase 3 Infliximab
39 A Study Evaluating the Effect of the Number of Needle Revolutions Inside the Node on the Diagnostic Yield of EBUS-TBNA in Sarcoidosis Completed NCT02875756 Phase 2, Phase 3
40 DEtection of Cellular Inflammation With FERumoxytol in the HEART Completed NCT02319278 Phase 2, Phase 3 Ferumoxytol
41 "A RCT ON CLINICAL EFFICACY OF 1% vs. 2% LIGNOCAINE IN COUGH SUPPRESSION AND PAIN RELIEF IN PATIENTS UNDERGOING FLEXIBLE BRONCHOSCOPY" Completed NCT01955824 Phase 2, Phase 3 1% lignocaine;2% lignocaine
42 Calcium Nephrolithiasis: Clinical Characteristics and Nutritional Determinants Completed NCT01005082 Phase 2, Phase 3
43 ARIES-3: A Phase 3, Long-Term, Open-Label, Multicenter Safety and Efficacy Study of Ambrisentan in Subjects With Pulmonary Hypertension Completed NCT00380068 Phase 3 Ambrisentan
44 Correction of Vitamin D Deficiency in Critically Ill Patients: a Randomized, Double-blind, Placebo-controlled Trial ("VITDAL@ICU") Completed NCT01130181 Phase 3 Cholecalciferol;Placebo
45 Prevention of Metabolic Complications of Glucocorticoid Excess - a Randomised, Doubleblind,Placebo Controlled Study Completed NCT01319994 Phase 2, Phase 3 Metformin;Placebo
46 Randomized Controlled Double-blind Vs. Placebo Multicentre Study on the Safety and Effectiveness of Thalidomide in the Treatment of Refractory Crohn's Disease and Ulcerative Colitis. Completed NCT00720538 Phase 3 Thalidomide;placebo
47 Preventing Health Disparities During Pregnancy Through Vitamin D Supplementation Completed NCT01932788 Phase 3 Vitamin D3 4000 IU in gummy form;Placebo gummy vitamin
48 Efficacy of Remission-induction Regimen With Infliximab for Severe Extrathoracic Sarcoidosis (EFIRTES STUDY) Recruiting NCT03704610 Phase 3 Infliximab;Placebo
49 Cardiac Sarcoidosis Multi-Center Randomized Controlled Trial Recruiting NCT03593759 Phase 3 Prednisone;Methotrexate
50 Mycophenolate for Pulmonary Sarcoidosis Terminated NCT00262132 Phase 3 Mycophenolate

Search NIH Clinical Center for Sarcoidosis 2

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Genetic Tests for Sarcoidosis 2

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Genetic tests related to Sarcoidosis 2:

# Genetic test Affiliating Genes
1 Sarcoidosis 2 29 BTNL2
Sources

Anatomical Context for Sarcoidosis 2

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MalaCards organs/tissues related to Sarcoidosis 2:

40
Lung, Lymph Node, Skin, Eye, Spleen, Heart, Liver
Sources

Publications for Sarcoidosis 2

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Articles related to Sarcoidosis 2:

(show top 50) (show all 61)
# Title Authors PMID Year
1
Sarcoidosis is associated with a truncating splice site mutation in BTNL2. 56 6
15735647 2005
2
The BTNL2 gene and sarcoidosis susceptibility in African Americans and Whites. 56
16080124 2005
3
Clinical characteristics of patients in a case control study of sarcoidosis. 56
11734441 2001
4
African-American HLA class II allele and haplotype diversity. 56
9174158 1997
5
Risk of first and recurrent serious infection in sarcoidosis: a Swedish register-based cohort study. 61
32366492 2020
6
Squawks in interstitial lung disease prevalence and causes in a cohort of one thousand patients. 61
31335692 2019
7
Diagnostic accuracy of CT for the detection of left ventricular myocardial fibrosis in various myocardial diseases. 61
27866030 2017
8
Assessment of lung involvement in sarcoidosis - the use of an open-source software to quantify data from computed tomography. 61
32476864 2017
9
Diagnostic value of the bronchoalveolar lavage in interstitial lung disease. 61
27801489 2016
10
Clinico-radiological spectrum and outcome in idiopathic hypertrophic pachymeningitis. 61
25703277 2015
11
Diagnostic Performance of Diffusion-Weighted Imaging for Multiple Hilar and Mediastinal Lymph Nodes with FDG Accumulation. 61
26434850 2015
12
Ancillary findings assessed by ventilation/perfusion tomography. Impact and clinical outcome in patients with suspected pulmonary embolism. 61
26227225 2015
13
Ipilimumab, not just another anti-cancer therapy: hypophysitis as side effect illustrated by four case-reports. 61
24554495 2014
14
Hepatic granulomas in Turkey: a 6-year clinicopathological study of 35 cases. 61
25417613 2014
15
Diffuse renal (18)F-FDG uptake of a patient with fever of unknown origin revealed sarcoidosis. 61
24873783 2014
16
The role of 18F-FDG-PET and PET/CT in patients with sarcoidosis: an updated evidence-based review. 61
24703482 2014
17
Isolated neurosarcoidosis: case series in 2 sarcoidosis centers. 61
23114669 2012
18
[What is your diagnosis? 1. Lymphadenopathy in sarcoidosis. 2. Toxoplasmic lymphadenitis (Piringer-Kuchinkov). 3. Reactive (paraneoplastic) granulomatous lymphadenopathy. 4. Granulomatous cat-scratch lymphadenitis]. 61
21887930 2011
19
[Lung transplant in patients with sarcoidosis: 2 case reports and a pathophysiologic review]. 61
20151527 2009
20
International criteria for the diagnosis of ocular sarcoidosis: results of the first International Workshop On Ocular Sarcoidosis (IWOS). 61
19585358 2009
21
Surgical results of intramedullary spinal cord tumor with spinal cord monitoring to guide extent of resection. 61
19442001 2009
22
[Cutaneous sarcoidosis through a hospital series of 28 cases]. 61
19469298 2008
23
Hypertrophic cranial pachymeningitis in countries endemic for tuberculosis: diagnostic and therapeutic dilemmas. 61
18280167 2008
24
[Transbronchial needle aspiration of hilar and mediastinal lymph nodes]. 61
17962884 2007
25
Unusual histopathological features of cutaneous leishmaniasis identified by polymerase chain reaction specific for Leishmania on paraffin-embedded skin biopsies. 61
16965433 2006
26
Heterotopic ossification of percutaneous nephrostomy tract. 61
16566987 2006
27
[Nasosinusal sarcoidosis: 2 cases. A report of 2 cases]. 61
16634214 2006
28
Incidence of primary neoplasms in explanted lungs: long-term follow-up from 214 lung transplant patients. 61
15621155 2004
29
Adverse long-term effect of corticosteroid therapy in recent-onset sarcoidosis. 61
14620167 2003
30
Breast disease in sarcoidosis. 61
11587103 2001
31
Open lung biopsy as an outpatient procedure. 61
11308145 2001
32
Distinct roles of osteopontin fragments in the development of the pulmonary involvement in sarcoidosis. 61
11976896 2001
33
[Open lung biopsy in diagnosis of interstitial lung disease]. 61
11812355 1999
34
Somatostatin receptor imaging in patients with sarcoidosis. 61
9724378 1998
35
Arterial macroaneurysms in peripheral multifocal chorioretinitis associated with sarcoidosis. 61
9709748 1998
36
Anticardiolipin antibodies in childhood rheumatic disorders. 61
9863898 1998
37
[Grouping of thoracic lymph nodes on CT scan according to American Thoracic Society classification]. 61
10921059 1998
38
The role of azathioprine in the management of retinal vasculitis. 61
10070509 1998
39
Subfoveal choroidal neovascularization in uveitis. 61
8841071 1996
40
[Long-term prognosis of pulmonary sarcoidosis. 2. Cardiac sarcoidosis and other extrapulmonary manifestations]. 61
7785100 1995
41
Sarcoidosis in systemic sclerosis: report of 7 cases. 61
8587076 1995
42
[Cutaneous vasculitis in sarcoidosis. 2 cases and review of the literature]. 61
8734087 1995
43
Intermediate uveitis: what is the natural course of the disease and its relationship with other systemic diseases? 61
7711475 1994
44
[Breast sarcoidosis: 2 case reports and a review of 19 literature]. 61
8046850 1994
45
Infectious and inflammatory diseases. 61
7919696 1994
46
[Value and limits of fine needle aspiration biopsy in Hodgkin disease. Usefulness in developing countries]. 61
8173186 1993
47
Surgical treatment of pulmonary and pleuro-pulmonary Aspergillus disease. 61
8367859 1993
48
Angiotensin-converting enzyme in bronchoalveolar lavage fluid in sarcoidosis. 61
1344045 1992
49
[Single lung transplantation as treatment of terminal lung diseases]. 61
2000609 1991
50
Vascular lesions in the biopsied bronchus of patients with sarcoidosis changes of the endothelial cells in aggregation of eosinophils. 61
2345817 1990
Sources

Variations for Sarcoidosis 2

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ClinVar genetic disease variations for Sarcoidosis 2:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BTNL2 NM_001304561.1(BTNL2):c.1078= (p.Ser360=)SNV risk factor 4649 rs2076530 6:32363816-32363816 6:32396039-32396039
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Expression for Sarcoidosis 2

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Search GEO for disease gene expression data for Sarcoidosis 2.
Sources

Pathways for Sarcoidosis 2

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GO Terms for Sarcoidosis 2

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Sources for Sarcoidosis 2

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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