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MCID: MCN011
MIFTS: 41

Mucinoses

Genes Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Mucinoses

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MalaCards integrated aliases for Mucinoses:

Name: Mucinoses 12 45 15 74

External Ids:

Disease Ontology 12 DOID:3141
MeSH 45 D017520
SNOMED-CT 69 11528001
UMLS 74 C0162855
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Summaries for Mucinoses

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Disease Ontology : 12 A connective tissue disease characterized by accumulation of glycosaminoglycan located in the dermal tissue.

MalaCards based summary : Mucinoses is related to spinal cord astrocytoma and cerebral primitive neuroectodermal tumor. An important gene associated with Mucinoses is CHST11 (Carbohydrate Sulfotransferase 11), and among its related pathways/superpathways are Innate Immune System and Cytokine Signaling in Immune system. The drugs Polidocanol and Ropivacaine have been mentioned in the context of this disorder. Affiliated tissues include bone, eye and brain, and related phenotypes are hematopoietic system and immune system

Wikipedia : 77 Mucinoses are a group of cutaneous diseases caused by fibroblasts producing abnormally large amounts of... more...

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Related Diseases for Mucinoses

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

(show all 40)
# Related Disease Score Top Affiliating Genes
1 spinal cord astrocytoma 10.2 CD44 IFNB1
2 cerebral primitive neuroectodermal tumor 10.2 CD44 IFNB1
3 hand, foot and mouth disease 10.2 C4A IFNG
4 chronic inflammatory demyelinating polyradiculoneuropathy 10.2 IFNB1 IFNG
5 breast giant fibroadenoma 10.2 CD44 IFNG
6 aseptic meningitis 10.2 CD44 IFNG
7 fascioliasis 10.1 IFNG INS
8 non-secretory myeloma 10.1 CXCL9 FN1
9 lichen disease 10.1 CXCL9 IFNG
10 berylliosis 10.1 IFNG POMC
11 hypothyroidism 10.1
12 human immunodeficiency virus infectious disease 10.1
13 connective tissue disease 10.1
14 severe acute respiratory syndrome 10.1 IFNB1 IFNG
15 pericardial tuberculosis 10.1 IFNG POMC
16 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.1 IFNG INS
17 chilblain lupus 1 10.1 CXCL9 IFNB1
18 autoimmune disease of endocrine system 10.1 IFNG INS
19 secondary progressive multiple sclerosis 10.0 IFNB1 IFNG
20 adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete 10.0 C4A POMC
21 opsoclonus-myoclonus syndrome 10.0 CXCL9 POMC
22 pituitary apoplexy 10.0 INS POMC
23 pancreatic endocrine carcinoma 10.0 INS POMC
24 noma 10.0 INS POMC
25 vernal conjunctivitis 10.0 IFNG POMC
26 sheehan syndrome 10.0 INS POMC
27 hyperpituitarism 10.0 INS POMC
28 fetal erythroblastosis 10.0 INS POMC
29 neurodermatitis 10.0 INS POMC
30 chromophobe adenoma 10.0 INS POMC
31 nervous system disease 9.9 IFNB1 IFNG INS
32 gastrointestinal system disease 9.9 CD44 IFNG INS
33 pituitary-dependent cushing's disease 9.9 INS POMC
34 endocrine organ benign neoplasm 9.9 INS POMC
35 autoimmune disease of central nervous system 9.8 IFNB1 IFNG
36 glossopharyngeal neuralgia 9.8 POMC SRGN
37 large intestine cancer 9.8 CD44 IFNG INS
38 thyroid gland disease 9.8 INS POMC
39 pituitary gland disease 9.7 INS POMC
40 scleredema adultorum 9.7 CXCL9 INS POMC

Graphical network of the top 20 diseases related to Mucinoses:



Diseases related to Mucinoses
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Symptoms & Phenotypes for Mucinoses

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MGI Mouse Phenotypes related to Mucinoses:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.98 CD44 CHST11 FN1 IFNB1 IFNG INS
2 immune system MP:0005387 9.95 CD44 CHST11 FN1 IFNB1 IFNG INS
3 cardiovascular system MP:0005385 9.93 CD44 CHST11 FN1 IFNG INS POMC
4 liver/biliary system MP:0005370 9.77 CD44 FN1 IFNG INS POMC
5 muscle MP:0005369 9.72 CD44 CHST11 FN1 IFNG INS
6 nervous system MP:0003631 9.7 CD44 CHST11 FN1 IFNB1 IFNG INS
7 neoplasm MP:0002006 9.65 CD44 FN1 IFNB1 IFNG POMC
8 renal/urinary system MP:0005367 9.35 CD44 CHST11 IFNG INS POMC
9 skeleton MP:0005390 9.1 CD44 CHST11 FN1 IFNB1 IFNG INS
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Drugs & Therapeutics for Mucinoses

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

(show top 50) (show all 174)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Polidocanol Approved Phase 4 9002-92-0
2
Ropivacaine Approved Phase 4,Phase 3,Not Applicable 84057-95-4 71273 175805
3
Nicotinamide Approved, Investigational Phase 4 98-92-0 936
4
Tocopherol Approved, Investigational Phase 4,Phase 2 1406-66-2 14986
5
Ibuprofen Approved Phase 4,Phase 2 15687-27-1 3672
6
Oxycodone Approved, Illicit, Investigational Phase 4,Phase 2 76-42-6 5284603
7
Acetaminophen Approved Phase 4,Phase 2 103-90-2 1983
8
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
9
Hydrocodone Approved, Illicit, Investigational Phase 4 125-29-1 5284569
10
Niacin Approved, Investigational, Nutraceutical Phase 4 59-67-6 938
11
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
12
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4,Phase 2 59-02-9 14985
13 Tocotrienol Investigational Phase 4,Phase 2 6829-55-6
14 Sclerosing Solutions Phase 4
15 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
16 Anesthetics Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
17 Anesthetics, Local Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
18 Central Nervous System Depressants Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
19 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
20 Antibodies Phase 4,Phase 1,Phase 2
21 Immunologic Factors Phase 4,Phase 2,Phase 3,Phase 1
22 Immunoglobulins Phase 4,Phase 1,Phase 2
23 Tocopherols Phase 4,Phase 2
24 Antioxidants Phase 4
25 Vasodilator Agents Phase 4,Not Applicable
26 Vitamins Phase 4,Phase 2
27 Hypolipidemic Agents Phase 4
28 Nicotinic Acids Phase 4
29 Trace Elements Phase 4,Phase 1
30 Vitamin B Complex Phase 4
31 Nutrients Phase 4,Phase 1
32 Antimetabolites Phase 4,Phase 1,Phase 2
33 Autonomic Agents Phase 4,Not Applicable
34 Tocotrienols Phase 4,Phase 2
35 Micronutrients Phase 4,Phase 1
36 Vitamin B9 Phase 4
37 Antiemetics Phase 4
38 Folate Phase 4
39 Lipid Regulating Agents Phase 4
40 Protective Agents Phase 4,Phase 1,Phase 2
41 Vitamin B3 Phase 4
42 Gastrointestinal Agents Phase 4
43 Anti-Inflammatory Agents Phase 4,Phase 1,Phase 2,Early Phase 1
44 Analgesics Phase 4,Phase 2,Not Applicable,Early Phase 1
45 Respiratory System Agents Phase 4,Not Applicable
46 Antirheumatic Agents Phase 4,Phase 1,Phase 2,Early Phase 1
47 Analgesics, Opioid Phase 4,Phase 2
48 Cyclooxygenase Inhibitors Phase 4,Phase 2
49 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 2,Early Phase 1
50 Antipyretics Phase 4,Phase 2

Interventional clinical trials:

(show top 50) (show all 210)
# Name Status NCT ID Phase Drugs
1 An Assessment of Intra-lesional 3% Polidocanol Solution in the Treatment of Digital Myxoid Cyst Unknown status NCT02154789 Phase 4 polidocanol
2 Sleep Quality After Stellate-ganglion Block of Patients Undergoing Breast Cancer Operation Completed NCT02651519 Phase 4 0.25% ropivacaine hydrochloride;saline
3 Effect of Stellate Ganglion Block on Meniere's Disease Completed NCT01574313 Phase 4 0.25mg, fludiazine;25mg cephadol@ (diphenidol);200mg kentons@ (tocopherol nicotinate).
4 Safety and Clinical Outcomes in Hunter Syndrome Patients 5 Years of Age and Younger Receiving Idursulfase Therapy Completed NCT00607386 Phase 4
5 A Phase 4 Two Dose Level Study of Naglazyme(TM) (Galsulfase) in Infants With MPS VI Completed NCT00299000 Phase 4 Naglazyme
6 A Dose-optimization Study of Aldurazyme® (Laronidase) in Patients With Mucopolysaccharidosis I (MPS I) Disease Completed NCT00144781 Phase 4
7 A Study Investigating the Relationship Between the Development of Laronidase Antibody and Urinary GAG (Glycosaminoglycan) Levels in Aldurazyme® Treated Patients Completed NCT00144768 Phase 4 laronidase
8 A Study of the Effect of Aldurazyme® (Laronidase) Treatment on Lactation in Female Patients With Mucopolysaccharidosis I (MPS I) and Their Breastfed Infants Recruiting NCT00418821 Phase 4
9 Long-term Evaluation on Height and Weight in Patients With MPS II Who Started Treatment at < 6 Years of Age Active, not recruiting NCT02455622 Phase 4 Elaprase for intravenous (IV) infusion
10 Post-operative Analgesia in Elective, Soft-tissue Hand Surgery Terminated NCT02029235 Phase 4 Acetaminophen/Ibuprofen;Acetaminophen/Hydrocodone
11 Morquio's Syndrome: a Case Study Terminated NCT00609440 Phase 4
12 Retinal Ganglion Cell Function After Intravitreous Ranibizumab in Patients With Diabetic Macular Edema Withdrawn NCT02055911 Phase 4 Ranibizumab
13 BMN 110 Phase 3B in Australian Patients Unknown status NCT01966029 Phase 3 BMN 110
14 Hematopoietic Stem Cell Transplantation for Mucopolysaccharidosis Unknown status NCT01238328 Phase 2, Phase 3 Conditioning regimen;Graft-versus-host disease (GVHD) prophylaxis
15 Surgery Versus Manual Rupture for Dorsal Carpal Ganglion Completed NCT01017900 Phase 3
16 A Long-Term Open-Label Treatment and Extension Study of UX003 rhGUS Enzyme Replacement Therapy in Subjects With MPS 7 Completed NCT02432144 Phase 3 UX003
17 A Phase 3 Study of UX003 Recombinant Human Betaglucuronidase (rhGUS) Enzyme Replacement Therapy in Patients With Mucopolysaccharidosis Type 7 (MPS 7) Completed NCT02230566 Phase 3 UX003
18 Study of Intrathecal Idursulfase-IT Administered in Conjunction With Elaprase® in Pediatric Patients With Hunter Syndrome and Early Cognitive Impairment Completed NCT02055118 Phase 2, Phase 3
19 A Double-Blind Study to Evaluate the Efficacy and Safety of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome) Completed NCT01275066 Phase 3 BMN 110 Weekly;Placebo;BMN 110 Every Other Week
20 Safety and Efficacy of Hunterase Completed NCT01645189 Phase 3
21 Long-Term Efficacy and Safety Extension Study of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome) Completed NCT01415427 Phase 3 BMN 110 - Weekly;BMN 110 - Every Other Week
22 Clinical Study of Aldurazyme in Patients With Mucopolysaccharidosis (MPS) I Completed NCT00912925 Phase 3
23 Extension of Study TKT024 Evaluating Long-Term Safety and Clinical Outcomes in MPS II Patients Receiving Idursulfase Completed NCT00630747 Phase 2, Phase 3
24 Study of rhASB in Patients With Mucopolysaccharidosis VI Completed NCT00104234 Phase 3 N-acetylgalactosamine 4-sulfatase;Placebo/rhASB
25 Iduronate-2-sulfatase Enzyme Replacement Therapy in Mucopolysaccharidosis II (MPS II) Completed NCT00069641 Phase 2, Phase 3
26 Study of Recombinant Human N-acetylgalactosamine 4-sulfatase (rhASB) in Patients With MPS VI Completed NCT00067470 Phase 3 Placebo;N-acetylgalactosamine 4-sulfatase
27 Study of Aldurazyme® Replacement Therapy in Patients With Mucopolysaccharidosis I (MPS I) Disease Completed NCT00258011 Phase 3
28 Phase 3 Extension Study of the Safety and Efficacy of Aldurazyme® (Laronidase) in Mucopolysaccharidosis I (MPS I) Patients Completed NCT00146770 Phase 3
29 Study of AAVrh10-h.SGSH Gene Therapy in Patients With Mucopolysaccharidosis Type IIIA (MPS IIIA) Recruiting NCT03612869 Phase 2, Phase 3 LYS-SAF302
30 The Effect of Ganglion Sphenopalatine Block (GSP-block) Versus Placebo on Postdural Puncture Headache Recruiting NCT03652714 Phase 3
31 Infiltration in the Region of the Palatine Ganglion Spheno by Ropivacaine on Postoperative Pain Recruiting NCT02821169 Phase 3 ropivacaine;saline solution 0.9%
32 A Study of JR-141 in Patients With Mucopolysaccharidosis II Active, not recruiting NCT03568175 Phase 2, Phase 3 JR-141
33 Study of Long Term Safety and Clinical Outcomes of Idursulfase IT and Elaprase Treatment in Pediatric Participants Who Have Completed Study HGT-HIT-094 Enrolling by invitation NCT02412787 Phase 2, Phase 3 Idursulfase-IT;Elaprase
34 ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases Terminated NCT00654433 Phase 3
35 Clinical Trial of Growth Hormone in MPS I, II, and VI Terminated NCT00748969 Phase 2, Phase 3 Somatropin (DNA origin)
36 Does Stellate Ganglion Block Decrease Stress Response of Intubation? Unknown status NCT02732093 Phase 2 Na.Cl 0.9% (placebo);lidocaine 2%
37 The Efficacy of Stellate Ganglion Block as Post-traumatic Stress Disorder (PTSD) Therapy: A Pilot Study Unknown status NCT01533610 Phase 2
38 Safety, Pharmacokinetics, and Pharmacodynamics/Efficacy of SBC-103 in Mucopolysaccharidosis III, Type B (MPS IIIB) Completed NCT02324049 Phase 1, Phase 2 SBC-103
39 Analgesic Effect of an Injection of Botulinum Toxin Type A in the Ganglion Impar in Patients With Chronic Proctalgia Completed NCT01331356 Phase 2 Botox
40 A Study of JR-141 in Patients With Mucopolysaccharidosis Type II Completed NCT03128593 Phase 1, Phase 2 JR-141
41 Extension Study Evaluating Long Term Safety and Activity of AGT-181 in Children With MPS I Completed NCT03071341 Phase 1, Phase 2 AGT-181
42 Safety and Dose Ranging Study of Human Insulin Receptor MAb-IDUA Fusion Protein in Adults and Children With MPS I Completed NCT03053089 Phase 1, Phase 2 AGT-181
43 Effects of Adalimumab in Mucopolysaccharidosis Types I, II and VI Completed NCT02437253 Phase 1, Phase 2 Adalimumab
44 Long-term Follow-up of Sanfilippo Type A Patients Treated by Intracerebral SAF-301 Gene Therapy Completed NCT02053064 Phase 1, Phase 2
45 Botulinum Toxin Type A Block of the Sphenopalatine Ganglion in Chronic Rhinosinusitis With Nasal Polyposis Completed NCT02784262 Phase 2 botox injection Multiguide
46 An Open-Label Phase 1/2 Study to Assess the Safety, Efficacy and Dose of Study Drug UX003 Recombinant Human Beta-glucuronidase (rhGUS) Enzyme Replacement Therapy in Patients With Mucopolysaccharidosis Type 7 (MPS 7) Completed NCT01856218 Phase 1, Phase 2 UX003
47 Botulinum Toxin Type A Block of the Sphenopalatine Ganglion in Trigeminal Neuralgia. Safety Issues. Completed NCT02662972 Phase 1, Phase 2 Botulinum Toxin Type A
48 An Open-Label Study of UX003 Recombinant Human Beta-Glucuronidase (rhGUS) Enzyme Replacement Treatment in Mucopolysaccharidosis Type 7, Sly Syndrome (MPS 7) Patients Less Than 5 Years of Age Completed NCT02418455 Phase 2 UX003
49 Intracerebral Gene Therapy for Sanfilippo Type A Syndrome Completed NCT01474343 Phase 1, Phase 2
50 Randomized, Controlled, Open-label, Multicenter, Safety and Efficacy Study of rhHNS Administration Via an IDDD in Pediatric Patients With Early Stage MPS IIIA Disease Completed NCT02060526 Phase 2 Recombinant human heparan N-sulfatase [rhHNS]

Search NIH Clinical Center for Mucinoses

Cochrane evidence based reviews: mucinoses

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Genetic Tests for Mucinoses

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Anatomical Context for Mucinoses

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MalaCards organs/tissues related to Mucinoses:

42
Bone, Eye, Brain, Bone Marrow, Liver, Breast, Spinal Cord

The Foundational Model of Anatomy Ontology organs/tissues related to Mucinoses:

20
The Dermal Tissue
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Publications for Mucinoses

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Articles related to Mucinoses:

(show all 16)
# Title Authors Year
1
Trauma-induced Focal Nodular Mucinoses: A Rare Entity. ( 29441300 )
2018
2
Review of Primary Cutaneous Mucinoses in Nonlupus Connective Tissue Diseases. ( 28673091 )
2017
3
Diffuse cutaneous mucinoses. ( 12170882 )
2002
4
Cutaneous mucinoses complicating interferon beta-1b therapy. ( 11844903 )
2002
5
Cutaneous mucinoses: microscopic criteria for diagnosis. ( 11391115 )
2001
6
Cutaneous mucinoses and HIV infection. ( 9990377 )
1998
7
The dermal mucinoses. ( 7694631 )
1993
8
Cutaneous toxic mucinoses. ( 1583189 )
1992
9
The new cutaneous mucinoses: a review with an up-to-date classification of cutaneous mucinoses. ( 2007673 )
1991
10
Focal mucinosis in dogs: seven cases and review of cutaneous mucinoses of man and animals. ( 3962080 )
1986
11
The cutaneous mucinoses. ( 2419372 )
1986
12
The acquired cutaneous mucinoses. ( 6486981 )
1984
13
Multiple cutaneous focal mucinoses with hypothyroidism. ( 7053704 )
1982
14
Reticular erythematous mucinosis (REM syndrome) of Steigleder: its relationship to other mucinoses and to chronic erythemata. ( 747554 )
1978
15
The cutaneous mucinoses. ( 4196237 )
1973
16
Histochemical study of acid mucopolysaccharides in mucinoses. ( 13986611 )
1962
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Variations for Mucinoses

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Expression for Mucinoses

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Search GEO for disease gene expression data for Mucinoses.
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Pathways for Mucinoses

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Pathways related to Mucinoses according to GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Innate Immune System 67
Show member pathways
 13.62 C4A CD44 FN1 IFNB1 IFNG INS
2
Cytokine Signaling in Immune system 67
Show member pathways
 12.83 CD44 FN1 IFNB1 IFNG POMC
3
Allograft rejection 1 38
Show member pathways
 12.41 C4A CXCL9 IFNG INS
4
Interferon gamma signaling 67
Show member pathways
 12.16 CD44 IFNB1 IFNG
5
Bacterial infections in CF airways 23
Show member pathways
 11.55 FN1 IFNB1 IFNG
6
ATF-2 transcription factor network 1
11.25 IFNG INS
7
Immune response_Role of integrins in NK cells cytotoxicity 23
11.1 FN1 IFNG
8
Senescence and Autophagy in Cancer 1
11.05 CD44 FN1 IFNB1 IFNG INS
9
Articular Cartilage Extracellular Matrix Pathway 66
10.99 CD44 FN1
10
Inflammatory Response Pathway 1
10.92 FN1 IFNG
11
Cytokines and Inflammatory Response 1
10.72 IFNB1 IFNG
12
Type II interferon signaling (IFNG) 1
10.7 CXCL9 IFNB1 IFNG
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GO Terms for Mucinoses

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Cellular components related to Mucinoses according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.56 C4A CXCL9 FN1 IFNB1 IFNG INS
2 endoplasmic reticulum lumen GO:0005788 9.33 C4A FN1 INS
3 extracellular space GO:0005615 9.23 C4A CXCL9 FN1 IFNB1 IFNG INS

Biological processes related to Mucinoses according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytokine-mediated signaling pathway GO:0019221 9.58 FN1 IFNB1 POMC
2 cell-cell signaling GO:0007267 9.5 CXCL9 INS POMC
3 cellular protein metabolic process GO:0044267 9.43 C4A FN1 INS
4 acute-phase response GO:0006953 9.37 FN1 INS
5 defense response to virus GO:0051607 9.33 CXCL9 IFNB1 IFNG
6 regulation of signaling receptor activity GO:0010469 9.02 CXCL9 IFNB1 IFNG INS POMC
7 positive regulation of peptidyl-serine phosphorylation of STAT protein GO:0033141 8.96 IFNB1 IFNG

Molecular functions related to Mucinoses according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 8.8 CXCL9 IFNB1 IFNG
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Sources for Mucinoses

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 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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