Mixed Connective Tissue Disease malady

NIH Rare Diseases: Mixed connective tissue disease (MCTD) is a autoimmune disorder that causes overlapping features of three connective tissue disorders: lupus, scleroderma, and polymyositis. MCTD may also have features of rheumatoid arthritis. This condition is most often diagnosed in women in their 20's and 30's. Occasionally, children are affected. At this time the cause of this condition is unknown.³⁰

MalaCards: Mixed Connective Tissue Disease, also known as connective tissue disease overlap syndrome (disorder), is related to connective tissue disease and rheumatoid arthritis. An important gene associated with Mixed Connective Tissue Disease is LSM2 (LSM2 homolog, U6 small nuclear RNA associated (S. cerevisiae)), and among its related pathways are Cell adhesion molecules (CAMs) and Immune response_ICOS pathway in T-helper cell. The compounds polyethylene glycol and toxin a have been mentioned in the context of this disorder. Affiliated tissues include monocytes, t cells and b cells, and related mouse phenotypes are embryogenesis and hematopoietic system.

Disease Ontology: A collagen disease that is considered an overlap of three diseases, systemic lupus erythematosus, scleroderma, and polymyositis with very high titers of circulating antinuclear antibody to a ribonucleoprotein antigen.⁶

Wikipedia: In medicine, mixed connective tissue disease (also known as Sharp\'s syndrome), commonly abbreviated as...⁴⁴ more...

Aliases & Descriptions:

mixed connective tissue disease 6 30 8 32 43 connective tissue disease overlap syndrome (disorder) 6

mixed collagen vascular disease (disorder) 6 mctd 30

Diseases related to mixed connective tissue disease by text searches and GeneDecks gene sharing:

(show top 50)    (show all 505)

id	Related Disease	Score	Top Affiliating Genes
1	connective tissue disease	36.0	BMPR2, S100A9, CENPB, FBN1, APOH, HSPG2
2	rheumatoid arthritis	30.2	HLA-DRB1, CRP, PRTN3
3	autoimmune hepatitis	29.5	CD40LG, HSPG2, HSPD1, HLA-A, HLA-DRB1, TRB@
4	diabetic ketoacidosis	28.0	PIK3C2A, INS, IL6, HLA-DRB1, CRP
5	pemphigus foliaceus	27.5	CD40LG, IL6, HLA-DRB1, TRB@, TNF, CRP
6	pulmonary hypertension	27.4	PIK3C2A, BMPR2, CD40LG, IL6, FBN1, APOH
7	polymyositis	26.9	PIK3C2A, S100A8, S100A9, MICA, HSPG2, HLA-A
8	myasthenia gravis	26.5	CD40LG, INS, IL6, APOH, HSPG2, HLA-A
9	pemphigus	26.5	CD40LG, IL6, HSPG2, HLA-A, HLA-DQA1, HLA-DRB1
10	sarcoidosis	25.8	PIK3C2A, S100A8, S100A9, IL6, APOH, HLA-A
11	purpura	25.7	S100A8, CD40LG, MICA, IL6, APOH, HSPG2
12	hypertension	25.5	PIK3C2A, BMPR2, CD40LG, INS, IL6, FBN1
13	systemic lupus erythematosus	25.4	SERPINH1, S100A8, S100A9, CENPB, CD40LG, IL6
14	atherosclerosis	24.7	PIK3C2A, S100A8, S100A9, CD40LG, INS, IL6
15	lupus erythematosus	21.9	PIK3C2A, SERPINH1, MUC16, S100A8, S100A9, CENPB
16	arthritis	20.9	SERPINH1, S100A8, S100A9, CENPB, CD40LG, MICA
17	hepatitis	19.0	PIK3C2A, SERPINH1, VDAC1, MUC16, S100A9, CD40LG
18	telangiectasis	13.7	BMPR2, CENPB, ACVRL1
19	toxic epidermal necrolysis	13.5	EDNRA, DSG1
20	bronchitis	13.4	S100A8, S100A9, PRTN3
21	primary pulmonary hypertension	13.4	BMPR2, FBN1, TRIM21, ACVRL1
22	pityriasis rosea	13.3	HLA-A, HLA-DRB1, HLA-DRB4
23	mononeuritis	13.3	HSPG2, CRP, PRTN3
24	epidermolysis bullosa acquisita	13.3	SERPINH1, HLA-DRB1, DSG1
25	impetigo	13.3	CD40LG, EDNRA, DSG1
26	postherpetic neuralgia	13.3	HLA-A, HLA-DRB1
27	catastrophic antiphospholipid syndrome	13.3	CD40LG, APOH, HLA-DRB4, ADAMTS13
28	halo nevi	13.3	HLA-DRB1, HLA-DRB4
29	scleritis	13.3	TNF, TNFRSF1B, PRTN3
30	erythema nodosum, idiopathic	13.2	S100A8, S100A9, HSPD1, TNF
31	relapsing polychondritis	13.2	S100A8, APOH, CRP, PRTN3
32	mononeuritis multiplex	13.2	CRP, PRTN3
33	reactive arthritis	13.2	HSPD1, CRP, PRTN3
34	cardiac sarcoidosis	13.2	S100A8, S100A9, TNF
35	spinal muscular atrophy	13.2	HSPG2, SNRPN, SNRPD3, RNPC3, LSM2
36	pulmonary plasma cell granuloma	13.2	S100A8, S100A9, TNF, PRTN3
37	variegate porphyria	13.2	FBN1, HSPG2, HLA-A, HLA-DRB1
38	evans' syndrome	13.1	IL6, APOH, ADAMTS13
39	compartment syndrome	13.1	PIK3C2A, APOH, TNF
40	boomerang dysplasia	13.1	BMPR2, S100A8, FBN1, HNRNPA2B1, HLA-A, ACVRL1
41	tubulointerstitial nephritis and uveitis	13.1	HLA-DQA1, HLA-DRB1
42	muscular atrophy	13.1	HSPG2, HNRNPC, SNRPN, SNRPD3, RNPC3, LSM2
43	spastic paraparesis	13.1	SERPINH1, HSPD1, HLA-A, HLA-DRB1
44	factor v leiden thrombophilia	13.1	PIK3C2A, S100A8, S100A9, EDNRA, PRTN3, ADAMTS13
45	sialadenitis	13.1	HSPG2, TNF, SSB
46	cardiac tamponade	13.0	CD40LG, HSPG2, CRP
47	nonspecific interstitial pneumonia	13.0	SERPINH1, IL6, HSPG2
48	palindromic rheumatism	13.0	HLA-DRB1, TNF, TNFRSF1B
49	paranoid schizophrenia	13.0	IL6, HLA-A, TNFRSF1B
50	dry eye syndrome	13.0	IL6, HSPG2, SSB

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to mixed connective tissue disease:

²²

MGI Mouse Phenotypes related to mixed connective tissue disease:

²⁵

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	embryogenesis phenotype	MP:0005380	9.5	ACVRL1, SSB, HNRNPC, FBN1, BMPR2
2	hematopoietic system phenotype	MP:0005397	9.1	ADAMTS13, ACVRL1, TRIM21, TRB@, HLA-DQA1, FBN1
3	immune system phenotype	MP:0005387	7.5	ADAMTS13, PRTN3, EDNRA, TNF, TRIM21, TRB@
4	homeostasis/metabolism phenotype	MP:0005376	5.6	TRIM21, TNF, TNFRSF1B, SNRPN, CRP, EDNRA
5	mortality/aging	MP:0010768	4.9	PIK3C2A, HNRNPC, TRB@, TRIM21, TNF, TNFRSF1B

Articles related to mixed connective tissue disease:

(show all 35)

id	Title	Authors	Year	Affiliating Genes
1	Leg ulcer in mixed connective tissue disease : Resolution during sitaxsentan therapy. (19156432)	Becker H.... Mohr M.	2009	EDNRA
2	Human voltage-dependent anion selective channel 1 is a target antigen for antiglomerular endothelial cell antibody in mixed connective tissue disease. (18568384)	Kikuchi T.... Oite T.	2008	VDAC1
3	Sarcoidosis in patients with mixed connective tissue disease: clinical, genetic, serological and histological observations. (18196245)	Szodoray P.... Bodolay E.	2008	HLA-DRB1
4	CD4+ T cells target epitopes residing within the RNA-binding domain of the U1-70-kDa small nuclear ribonucleoprotein autoantigen and have restricted TCR diversity in an HLA-DR4-transgenic murine model of mixed connective tissue disease. (18523312)	Greidinger E.L.... Hoffman R.W.	2008	SNRNP70, HLA-DRB4, TRB@
5	Ribosomal P protein P0 as a candidate for the target antigen of anti-endothelial cell antibodies in mixed connective tissue disease. (17888216)	Naniwa T.... Ueda R.	2007	RPLP0
6	High serum levels of antibodies against the recombinant 70 kDa ribonucleoprotein are useful for diagnosing mixed connective tissue disease. (17714123)	Salmhofer W.... Graninger W.	2007	SNRPN
7	A case of mixed connective tissue disease complicated with thrombotic thrombocytopenic purpura. (16391894)	Kuroda T.... Gejyo F.	2007	ADAMTS13
8	Diabetic ketoacidosis responsive to methotrexate in a patient with a mixed connective tissue disease (17369988)	Novik A V.... Lagos G M.	2007	INS
9	A murine model of mixed connective tissue disease induced with U1 small nuclear RNP autoantigen. (16453294)	Greidinger E.L.... Hoffman R.W.	2006	RNPC3
10	Autoantibodies specific for apoptotic U1-70K are superior serological markers for mixed connective tissue disease. (15743477)	Hof D.... Raats J.M.	2005	SNRNP70, LSM2
11	Lack of circulating autoantibodies to bone morphogenetic protein receptor-II or activin receptor-like kinase 1 in mixed connective tissue disease patients with pulmonary arterial hypertension. (15509626)	Satoh T.... Kuwana M.	2005	BMPR2, ACVRL1
12	Anticyclic citrullinated peptide antibodies in patients with mixed connective tissue disease. (17143695)	Takasaki Y.... Hashimoto H.	2004	HSPG2
13	Mixed connective tissue disease associated with antineutrophil cytoplasmic antibodies against proteinase-3 and systemic atherosclerosis: a case report. (15459817)	Kanazawa M.... Gejyo F.	2004	PRTN3
14	MICA4/HLA-DRB1*04/TNF1 haplotype is associated with mixed connective tissue disease in Swedish patients. (12559632)	Hassan A.B.... Sanjeevi C.B.	2003	TNF, HLA-DRB1, MICA
15	Elevated circulating soluble CD40 ligand in patients with mixed connective tissue disease. (12605316)	Jinnin M.... Tamaki K.	2003	CD40LG
16	Prevalence of HSP47 antigen and autoantibodies to HSP47 in the sera of patients with mixed connective tissue disease. (12659832)	Yokota S.... Nagata K.	2003	SERPINH1
17	Long-term outcome in mixed connective tissue disease: longitudinal clinical and serologic findings. (10323445)	Burdt M.A.... Sharp G.C.	1999	LSM2, RNPC3
18	Mixed connective tissue disease--etiology, pathogenesis, clinical significance, treatment (10645148)	Zdrojewicz Z.... PuA8awska J.	1999	RNPC3
19	Increased serum levels of immunoglobulins, C-reactive protein, type 1 and type 2 cytokines in patients with mixed connective tissue disease. (9802936)	Bakri Hassan A.... Lundberg I.	1998	CRP
20	Respiratory complications in mixed connective tissue disease. (9917963)	Prakash U.B.	1998	LSM2
21	Analysis of human T cell and B cell responses against U small nuclear ribonucleoprotein 70-kd, B, and D polypeptides among patients with systemic lupus erythematosus and mixed connective tissue disease. (9259431)	Holyst M.M.... Hoffman R.W.	1997	RNPC3
22	D-penicillamine-induced pemphigus foliaceus with autoantibodies to desmoglein-1 in a patient with mixed connective tissue disease. (9216536)	PeA+as P.F.... Diaz L.A.	1997	DSG1
23	Autoimmune response to the spliceosome. An immunologic link between rheumatoid arthritis, mixed connective tissue disease, and systemic lupus erythematosus. (7779120)	Hassfeld W.... Smolen J.S.	1995	HNRNPC
24	Mixed connective tissue disease associated with multi centric Castleman's disease. (8091149)	Nanki T.... Arai S.	1994	IL6
25	Clonotype analysis of peripheral blood T cells and autoantigen-reactive T cells from patients with mixed connective tissue disease. (7930595)	Okubo M.... Yamamoto K.	1994	SNRPA
26	Different distribution of T cell receptor beta-chain haplotypes in mixed connective tissue disease and systemic lupus erythematosus. (7912940)	IkAoheimo I.L.... Silvennoinen-Kassinen S.H.	1994	TRB@
27	Enhanced synthesis of cytokines by peripheral blood monocytes cultured in the presence of autoantibodies against U1-ribonucleoprotein and/or negatively charged molecules: implication in the pathogenesis of pulmonary hypertension in mixed connective tissue disease (MCTD). (7994907)	Okawa-Takatsuji M.... Yokohari R.	1994	RNPC3
28	Mixed connective tissue disease presenting myasthenia gravis. (8312661)	Yasuda M.... Nobunaga M.	1993	HSPG2
29	Anticardiolipin antibodies are associated with pulmonary hypertension in patients with mixed connective tissue disease or systemic lupus erythematosus. (8481653)	Miyata M.... Kasukawa R.	1993	APOH
30	Mixed connective tissue disease and SjAPgren's syndrome, accompanied by HTLV-I infection. (8101109)	Matsumoto Y.... Sato K.	1993	HSPG2
31	Difference in HLA-linked genetic background between mixed connective tissue disease and systemic lupus erythematosus. (8456439)	Dong R.P.... Sasazuki T.	1993	HLA-DQA1, HLA-DRB1, HLA-DPB1
32	Mixed connective tissue disease associated with protein losing enteropathy: successful treatment with intravenous cyclophosphamide therapy. (1300171)	Furuya T.... Kashiwazaki S.	1992	MUC16
33	A case of Sweet's syndrome (acute febrile neutrophil ic dermatosis) associated with mixed connective tissue disease (1411796)	Makino Y.... Tanabe E.	1992	PIK3C2A
34	Association of mixed connective tissue disease, SjAPgren's syndrome and autoimmune hepatitis: report of a case. (1920970)	Wada T.... Nakanuma Y.	1991	HSPG2
35	A case of mixed connective tissue disease developed into overlap syndrome of progressive systemic sclerosis, systemic lupus erythematosus, polymyositis and SjAPgren's syndrome (2222196)	Akiyama Y.... Doi Y.	1990	HSPG2

Genes related to mixed connective tissue disease according to GeneCards:

(show all 45)

id	Symbol	Description	Score	GeneCards Section Context
1	LSM2	LSM2 homolog, U6 small nuclear RNA associated (S. cerevisiae)	11.0	Publications
2	RNPC3	RNA-binding region (RNP1, RRM) containing 3	11.0	Publications
3	ACVRL1	activin A receptor type II-like 1	11.0	Publications
4	PRTN3	proteinase 3	11.0	Publications
5	SNRPA	small nuclear ribonucleoprotein polypeptide A	11.0	Publications
6	DSG1	desmoglein 1	11.0	Publications
7	S100A9	S100 calcium binding protein A9	11.0
8	SNRNP70	small nuclear ribonucleoprotein 70kDa (U1)	11.0	Publications
9	HNRPDL	heterogeneous nuclear ribonucleoprotein D-like	11.0
10	HSPD1	heat shock 60kDa protein 1 (chaperonin)	11.0
11	HSPG2	heparan sulfate proteoglycan 2	11.0	Publications
12	HNRNPC	heterogeneous nuclear ribonucleoprotein C (C1/C2)	11.0	Publications
13	APOH	apolipoprotein H (beta-2-glycoprotein I)	11.0	Publications
14	POLR1C	polymerase (RNA) I polypeptide C, 30kDa	11.0
15	TNFRSF1B	tumor necrosis factor receptor superfamily, member 1B	11.0
16	FBN1	fibrillin 1	11.0
17	BMPR2	bone morphogenetic protein receptor, type II (serine/threonine kinase)	11.0	Publications
18	S100A8	S100 calcium binding protein A8	11.0
19	HLA-A	major histocompatibility complex, class I, A	11.0
20	MOXD2P	monooxygenase, DBH-like 2, pseudogene	11.0	Publications
21	RNASEH2A	ribonuclease H2, subunit A	11.0
22	SERPINH1	serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)	11.0	Publications
23	HLA-DRB4	major histocompatibility complex, class II, DR beta 4	11.0	Publications
24	SSB	Sjogren syndrome antigen B (autoantigen La)	11.0
25	CENPB	centromere protein B, 80kDa	11.0
26	ADAMTS13	ADAM metallopeptidase with thrombospondin type 1 motif, 13	11.0	Publications
27	SNRPD3	small nuclear ribonucleoprotein D3 polypeptide 18kDa	11.0
28	EDNRA	endothelin receptor type A	11.0	Publications
29	VDAC1	voltage-dependent anion channel 1	11.0	Publications
30	RPLP0	ribosomal protein, large, P0	11.0	Publications
31	TRIM21	tripartite motif containing 21	11.0
32	SNRPN	small nuclear ribonucleoprotein polypeptide N	11.0	Publications
33	HLA-DPB1	major histocompatibility complex, class II, DP beta 1	11.0	Publications
34	MICA	MHC class I polypeptide-related sequence A	11.0	Publications
35	HNRNPA2B1	heterogeneous nuclear ribonucleoprotein A2/B1	11.0
36	PIK3C2A	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	11.0	Publications
37	MUC16	mucin 16, cell surface associated	11.0	Publications
38	TRB@	T cell receptor beta locus	11.0	Publications
39	HLA-DRB1	major histocompatibility complex, class II, DR beta 1	11.0	Publications
40	HLA-DQA1	major histocompatibility complex, class II, DQ alpha 1	11.0	Publications
41	CD40LG	CD40 ligand	11.0	Publications
42	IL6	interleukin 6 (interferon, beta 2)	11.0	Publications
43	TNF	tumor necrosis factor	11.0	Publications
44	INS	insulin	11.0	Publications
45	CRP	C-reactive protein, pentraxin-related	11.0	Publications

Pathways related to mixed connective tissue disease according to GeneDecks:

(show all 36)

id	Pathway	Score	Top Affiliating Genes
1	Cell adhesion molecules (CAMs)20	10.5	HLA-DPB1
2	Immune response_ICOS pathway in T-helper cell41	10.2	HLA-DRB4, HLA-DPB1
3	Immune response_NFAT in immune response41	10.1	HLA-DPB1, HLA-DRB4
4	Processing of Capped Intron-Containing Pre-mRNA38	10.1	LSM2, SNRNP70, SNRPA, HNRNPC, HNRNPA2B1
5	Graft-versus-host disease20	9.9	HLA-DRB4, HLA-DQA1, HLA-DPB1, HLA-A
6	Spliceosome20	9.9	LSM2, SNRNP70, SNRPD3, SNRPA, HNRNPC
7	Immune response Antigen presentation by MHC class II10	9.7	TRB@, HLA-DRB4, HLA-DQA1, HLA-DPB1
8	MHC class II antigen presentation38	9.6	HLA-DRB4, HLA-DRB1, HLA-DQA1, HLA-DPB1
9	CTL Mediated Apoptosis36	9.6	HLA-DRB4, HLA-DRB1, HLA-DQA1, HLA-A
10	Staphylococcus aureus infection20	9.5	DSG1, HLA-DRB4, HLA-DRB1, HLA-DQA1, HLA-DPB1
11	Immune response NFAT in immune response10	9.4	TRB@, HLA-DRB4, HLA-DQA1, HLA-DPB1
12	Immune response_Antigen presentation by MHC class II41	9.3	TRB@, HLA-DRB4, HLA-DRB1, HLA-DQA1, HLA-DPB1
13	G-protein signaling N-RAS regulation pathway10	9.3	TRB@, HLA-DRB4, HLA-DRB1, HLA-DQA1, HLA-DPB1
14	G-protein signaling_N-RAS regulation pathway41	9.3	TRB@, HLA-DRB4, HLA-DRB1, HLA-DQA1, HLA-DPB1
15	Immune response IL-22 signaling pathway10	9.2	TRB@, HLA-DRB4, HLA-DRB1, HLA-DQA1, HLA-DPB1
16	Immune response_IL-22 signaling pathway41	9.2	TRB@, HLA-DRB4, HLA-DRB1, HLA-DQA1, HLA-DPB1
17	Immune response T cell receptor signaling pathway10	9.2	TRB@, HLA-DRB4, HLA-DRB1, HLA-DQA1, HLA-DPB1
18	Immune response_T cell receptor signaling pathway41	9.1	TRB@, HLA-DRB4, HLA-DRB1, HLA-DQA1, HLA-DPB1
19	THC Differentiation Pathway36	9.1	TNFRSF1B, TNF, HLA-DRB4, HLA-DRB1, HLA-DQA1
20	Immune response ICOS pathway in T-helper cell10	9.1	TRB@, HLA-DRB4, HLA-DRB1, HLA-DQA1, HLA-DPB1
21	Autoimmune thyroid disease20	9.1	HLA-DRB4, HLA-DRB1, HLA-DQA1, HLA-DPB1, HLA-A, CD40LG
22	Viral myocarditis20	9.1	HLA-DRB4, HLA-DRB1, HLA-DQA1, HLA-DPB1, HLA-A, CD40LG
23	Phagosome20	9.0	HLA-DRB4, HLA-DRB1, HLA-DQA1, HLA-DPB1, HLA-A
24	ICos-ICosL Pathway in T-Helper Cell36	8.9	HLA-DRB4, HLA-DRB1, HLA-DQA1, PIK3C2A
25	Leishmaniasis20	8.9	TNF, HLA-DRB4, HLA-DRB1, HLA-DQA1, HLA-DPB1
26	Antigen processing and presentation20	8.9	TNF, HLA-DRB4, HLA-DRB1, HLA-DQA1, HLA-DPB1, HLA-A
27	Hematopoietic cell lineage20	8.8	IL6, HLA-DRB1, HLA-DRB4, TNF
28	Intestinal immune network for IgA production20	8.7	HLA-DRB4, HLA-DRB1, HLA-DQA1, HLA-DPB1, IL6, CD40LG
29	Asthma20	8.6	TNF, HLA-DRB4, HLA-DRB1, HLA-DQA1, HLA-DPB1, CD40LG
30	Rheumatoid arthritis20	8.5	TNF, HLA-DRB4, HLA-DRB1, HLA-DQA1, HLA-DPB1, IL6
31	Toxoplasmosis20	8.5	TNF, HLA-DRB4, HLA-DRB1, HLA-DQA1, HLA-DPB1, CD40LG
32	Allograft rejection20	8.5	TNF, HLA-DRB4, HLA-DRB1, HLA-DQA1, HLA-DPB1, HLA-A
33	Tuberculosis20	8.4	TNF, HLA-DRB4, HLA-DRB1, HLA-DQA1, HLA-DPB1, HSPD1
34	Influenza A20	8.3	TNF, HLA-DRB4, HLA-DRB1, HLA-DQA1, HLA-DPB1, IL6
35	Systemic lupus erythematosus20	8.0	SNRPD3, SSB, TNF, TRIM21, HLA-DRB4, HLA-DRB1
36	Type I diabetes mellitus20	8.0	INS, TNF, HLA-DRB4, HLA-DRB1, HLA-DQA1, HLA-DPB1

Compounds related to mixed connective tissue disease according to GeneDecks:

(show top 50)    (show all 95)

id	Compound	Score	Top Affiliating Genes
1	polyethylene glycol32	10.4	VDAC1, HSPD1
2	toxin a32	10.0	DSG1, S100A8, EDNRA
3	ivig32	10.0	DSG1, CRP, PIK3C2A
4	dpa 132	9.8	HLA-DRB1, HLA-DQA1, HLA-DPB1
5	hydroxychloroquine32 9 9	11.8	CD40LG, CRP, APOH
6	p0000132	9.7	FBN1, CRP, S100A8, EDNRA
7	cardiolipin32 9 9	11.7	PRTN3, RNPC3, VDAC1, CD40LG, APOH, TRIM21
8	rituximab32 34 9 9	12.6	CRP, DSG1, CD40LG, PRTN3, ADAMTS13
9	glutamate32	9.5	S100A8, INS, VDAC1, APOH
10	gold32	9.5	APOH, FBN1, PRTN3, S100A8, MUC16, PIK3C2A
11	endotoxin32	9.4	ADAMTS13, CRP, TNFRSF1B, HSPD1, APOH, S100A9
12	polyacrylamide32	9.4	HLA-DQA1, TRB@, APOH, HSPD1, SERPINH1, S100A8
13	glyceraldehyde 3-phosphate32	9.4	RPLP0, SNRPN, TNFRSF1B, HSPD1, VDAC1, S100A9
14	h2o232	9.3	HSPD1, HNRNPC, VDAC1, MUC16, TNFRSF1B, EDNRA
15	polymyxin b32	9.3	VDAC1, IL6, HSPD1, TNF
16	zinc32 18	10.3	ADAMTS13, POLR1C, RNPC3, TNFRSF1B, TRIM21, HLA-A
17	adenylate32	9.2	EDNRA, RNPC3, SNRPA, TNFRSF1B, HLA-A, HSPG2
18	tocilizumab32	9.2	TNF, IL6, CRP
19	cdp57132	9.1	IL6, TNF, CRP
20	latex32	9.0	EDNRA, VDAC1, APOH, HSPD1, CRP
21	etanercept32 9 9	10.9	TNF, TNFRSF1B, CRP, APOH, IL6
22	infliximab32 9 9	10.9	PRTN3, CRP, IL6, APOH, TNF, TNFRSF1B
23	iron32 18	9.9	EDNRA, RNPC3, CRP, SNRPA, HSPD1, APOH
24	prostacyclin32	8.8	TNF, CRP, EDNRA, HSPG2, APOH, PIK3C2A
25	atp32	8.6	HSPG2, APOH, S100A9, VDAC1, SERPINH1, PIK3C2A
26	okt332	8.6	CD40LG, CRP, IL6, TNF
27	oxygen32 18	9.5	PIK3C2A, VDAC1, BMPR2, S100A8, EDNRA, S100A9
28	neopterin32	8.5	TNFRSF1B, TNF, IL6, CD40LG, CRP
29	calcium32 9 18 9	11.5	S100A8, PIK3C2A, APOH, VDAC1, S100A9, FBN1
30	prednisolone32 9 9	10.3	APOH, EDNRA, TNF, IL6, MUC16, PIK3C2A
31	8-isoprostane32	8.3	IL6, INS, APOH, TNF, CRP
32	nitric oxide32 9 18 9	11.2	S100A9, VDAC1, APOH, TNF, EDNRA, IL6
33	retinoic acid32 42 18	10.1	HSPG2, IL6, CD40LG, S100A9, HSPD1, TNFRSF1B
34	methotrexate32 34 42 9 9	12.1	S100A8, TNFRSF1B, TNF, HLA-DRB1, APOH, IL6
35	atorvastatin32 34 9 18 9	12.1	TNF, IL6, CD40LG, PIK3C2A, CRP
36	oligonucleotide32	8.0	TNFRSF1B, TRB@, ACVRL1, EDNRA, RNPC3, TRIM21
37	cholesterol32 9 18 9	10.8	S100A8, EDNRA, CRP, HSPD1, APOH, IL6
38	fenofibrate32 9 9	9.6	INS, CD40LG, TNF, CRP, PIK3C2A, IL6
39	norepinephrine32 9 18 9	10.6	EDNRA, CRP, TNFRSF1B, IL6, INS, CD40LG
40	cyclosporin a32 42	8.5	RNPC3, TNFRSF1B, TNF, TRB@, CD40LG, PIK3C2A
41	arginine32	7.4	HLA-DRB1, TNFRSF1B, LSM2, HLA-DQA1, EDNRA, HLA-A
42	dexamethasone32 42 34 9 9	11.3	EDNRA, TNFRSF1B, TNF, HSPD1, HSPG2, MUC16
43	vegf32	7.2	APOH, ACVRL1, PIK3C2A, SERPINH1, MUC16, CD40LG
44	creatinine32	7.0	HSPD1, CRP, ADAMTS13, VDAC1, PIK3C2A, S100A8
45	lactate32	6.9	INS, VDAC1, MUC16, TNF, HSPD1, CD40LG
46	alanine32	6.8	HSPG2, FBN1, IL6, HLA-A, HLA-DRB1, CRP
47	lipid32	6.7	IL6, INS, FBN1, S100A9, S100A8, PRTN3
48	fibrinogen32	6.7	PIK3C2A, HSPD1, TNFRSF1B, INS, S100A9, IL6
49	serine32	6.6	VDAC1, SERPINH1, FBN1, SNRNP70, BMPR2, MUC16
50	tyrosine32	6.4	HLA-A, PRTN3, PIK3C2A, SERPINH1, VDAC1, BMPR2

Cellular components related to mixed connective tissue disease according to GeneDecks:

(show all 13)

id	Name	GO ID	Score	Top Affiliating Genes
1	catalytic step 2 spliceosome	GO:071013	9.8	HNRNPA2B1, HNRNPC, SNRPD3, LSM2
2	spliceosomal complex	GO:005681	9.7	SNRNP70, SNRPD3, SNRPA, SNRPN, HNRNPC, HNRNPA2B1
3	MHC class II protein complex	GO:042613	9.5	HLA-DRB4, HLA-DRB1, HLA-DQA1, HLA-DPB1
4	clathrin-coated endocytic vesicle membrane	GO:030669	9.4	HLA-DPB1, HLA-DQA1, HLA-DRB1, HLA-DRB4
5	trans-Golgi network membrane	GO:032588	9.4	HLA-DRB4, HLA-DRB1, HLA-DQA1, HLA-DPB1
6	transport vesicle membrane	GO:030658	9.4	HLA-DRB4, HLA-DRB1, HLA-DQA1, HLA-DPB1
7	integral to lumenal side of endoplasmic reticulum membrane	GO:071556	9.4	HLA-DRB4, HLA-DRB1, HLA-DQA1, HLA-DPB1, HLA-A
8	ER to Golgi transport vesicle membrane	GO:012507	9.4	HLA-DRB4, HLA-DRB1, HLA-DQA1, HLA-DPB1, HLA-A
9	endocytic vesicle membrane	GO:030666	9.3	HLA-DRB4, HLA-DRB1, HLA-DQA1, HLA-DPB1
10	cell surface	GO:009986	9.0	ADAMTS13, ACVRL1, TNF, HSPD1, APOH, MICA
11	integral to plasma membrane	GO:005887	7.3	ACVRL1, EDNRA, TNF, HLA-DRB4, HLA-DRB1, HLA-DQA1
12	extracellular space	GO:005615	6.3	MUC16, ADAMTS13, CRP, TNF, HSPD1, HSPG2
13	plasma membrane	GO:005886	6.1	HLA-DQA1, HLA-DRB1, HLA-DRB4, TNF, TNFRSF1B, EDNRA

Biological processes related to mixed connective tissue disease according to GeneDecks:

(show all 15)

id	Name	GO ID	Score	Top Affiliating Genes
1	detection of bacterium	GO:016045	10.0	HLA-A, HLA-DRB1, HLA-DRB4
2	venous blood vessel development	GO:060841	10.0	BMPR2, ACVRL1
3	regulation of interleukin-10 secretion	GO:2001179	9.9	HLA-DRB1, HLA-DRB4
4	nuclear mRNA splicing, via spliceosome	GO:000398	9.9	LSM2, SNRNP70, SNRPD3, SNRPA, HNRNPC, HNRNPA2B1
5	regulation of interleukin-4 production	GO:032673	9.8	HLA-DRB1, HLA-DRB4
6	RNA splicing	GO:008380	9.6	HNRNPA2B1, LSM2, RNPC3, SNRNP70, SNRPD3, SNRPA
7	T cell costimulation	GO:031295	9.4	HLA-DRB4, HLA-DRB1, HLA-DQA1, HLA-DPB1
8	T cell receptor signaling pathway	GO:050852	9.4	HLA-DRB4, HLA-DRB1, HLA-DQA1, HLA-DPB1
9	interferon-gamma-mediated signaling pathway	GO:060333	9.4	HLA-DRB4, HLA-DRB1, HLA-DQA1, HLA-DPB1, HLA-A
10	gene expression	GO:010467	9.4	POLR1C, LSM2, RPLP0, SNRNP70, SNRPD3, SNRPA
11	positive regulation of interferon-gamma production	GO:032729	9.4	CD40LG, HSPD1, TNF
12	antigen processing and presentation of exogenous peptide antigen via MHC class II	GO:019886	9.3	HLA-DRB4, HLA-DRB1, HLA-DQA1, HLA-DPB1
13	negative regulation of lipid storage	GO:010888	9.1	IL6, TNF, CRP
14	cytokine-mediated signaling pathway	GO:019221	8.8	HLA-DRB4, HLA-DRB1, HLA-DQA1, HLA-DPB1, HLA-A, IL6
15	inflammatory response	GO:006954	8.2	CRP, TNFRSF1B, TNF, IL6, CD40LG, S100A9

Molecular functions related to mixed connective tissue disease according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	nucleotide binding	GO:000166	9.5	SNRNP70, SNRPA, SSB, HNRPDL, HNRNPC, HNRNPA2B1
2	MHC class II receptor activity	GO:032395	9.2	HLA-DRB4, HLA-DRB1, HLA-DQA1
3	RNA binding	GO:003723	8.8	RNPC3, RNASEH2A, RPLP0, SNRNP70, SNRPA, SNRPN
4	protein binding	GO:005515	4.8	ADAMTS13, TNF, TNFRSF1B, SNRPN, SNRPA, SNRPD3