Prion Disease malady

NIH Rare Diseases: Emanuel syndrome is a chromosome disorder which results in problems in learning, growth, and development. Signs and symptoms vary but can include weak muscle tone and failure to thrive in infancy, developmental delays, severe to profound intellectual disability, small head size, distinctive facial features, small lower jaw, ear abnormalities (e.g., preauricular pits or sinuses), high arched palate (roof of mouth), cleft palate, heart defects, kidney defects, and genital abnormalities (in males). Emanuel syndrome is caused by having extra chromosome 11 and chromosome 22 material in each cell. This condition is usually inherited from a parent who carries a balanced translocation between chromosomes 11 and 22. Click here to visit the Unique: Rare Chromosome Disorder Support Group Web site for further details regarding balanced and unbalanced 11;22 chromosome translocations.³⁰

MalaCards: Prion Disease, also known as emanuel syndrome, is related to human t-cell leukemia virus type 1 and polycystic ovary syndrome. An important gene associated with Prion Disease is FPR2 (formyl peptide receptor 2), and among its related pathways are Alternative Complement Pathway and Lectin Induced Complement Pathway. The compounds glucose and threonine have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and heart, and related mouse phenotypes are endocrine/exocrine gland and hematopoietic system.

MedlinePlus: The brain is the control center of the body. it controls thoughts, memory, speech and movement. it regulates the function of many organs. when the brain is healthy, it works quickly and automatically. however, when problems occur, the results can be devastating. inflammation in the brain can lead to problems such as vision loss, weakness and paralysis. loss of brain cells, which happens if you suffer a stroke, can affect your ability to think clearly. brain tumors can also press on nerves and affect brain function. some brain diseases are genetic. and we do not know what causes some brain diseases, such as alzheimer's disease. the symptoms of brain diseases vary widely depending on the specific problem. in some cases, damage is permanent. in other cases, treatments such as surgery, medicines or physical therapy can correct the source of the problem or improve symptoms.²³

NINDS: Transmissible spongiform encephalopathies (TSEs), also known as prion diseases, are a group of rare degenerative brain disorders characterized by tiny holes that give the brain a "spongy" appearance. These holes can be seen when brain tissue is viewed under a microscope.³¹

Genetics Home Reference: Emanuel syndrome is a chromosomal disorder that disrupts normal development and affects many parts of the body. Infants with Emanuel syndrome have weak muscle tone (hypotonia) and fail to gain weight and grow at the expected rate (failure to thrive). Their development is significantly delayed, and most affected individuals have severe to profound intellectual disability.¹⁷

Wikipedia: Transmissible spongiform encephalopathies (TSEs), also known as prion diseases, are a group of...⁴⁴ more...

GeneReviews summary for emanuel

GeneReviews summary for prion

Aliases & Descriptions:

prion disease 6 44 17 8 emanuel syndrome 15 30 16 17 33 43 brain diseases 44 17 32 23 43 transmissible spongiform encephalopathies 44 15 17 31 creutzfeldt-jakob disease 44 17 43 prion diseases 31 32 43 tses 44 15 17 inherited human transmissible spongiform encephalopathies 44 17 supernumerary der(22),t(11;22) syndrome 30 16 transmissible dementias 44 17 genetic prion diseases 15 16 human transmissible spongiform encephalopathies, inherited 43 der(22) syndrome due to 3:1 meiotic disjunction events 17 transmissible spongiform encephalopathies (tses) 16 caused by a t(11;22)(q23;q11.2) translocation 30 supernumary derivative 22 chromosome syndrome 17 spongiform encephalopathy (disorder) 6

supernumary der(22)t(11;22) syndrome 17 cerebral dysfunction syndrome 43 supernumary der(22) syndrome 17 spongiform encephalopathy 6 prion disease (disorder) 6 prion induced disorder 6 derivative chromosome 43 prion disease pathway 6 prion protein disease 6 supernumerary der 15 brain dysfunction 32 brain disease 8 syndrome 15 11;22 15 22 15 t 15

Diseases related to prion disease by text searches and GeneDecks gene sharing:

(show top 50)    (show all 5554)

id	Related Disease	Score	Top Affiliating Genes
1	human t-cell leukemia virus type 1	33.9	FYN, IL1A, IL1B, IL6, NOTCH1, ELK1
2	polycystic ovary syndrome	32.8	BAX, IL1A, IL1B, IL6, APOE, MAPK1
3	myelodysplastic syndrome	32.6	NCAM1, BAX, FPR1, IL1A, IL1B, IL6
4	hemolytic-uremic syndrome	32.5	RECK, CLU, IL1B, IL6, F8, CST3
5	nephrotic syndrome	32.0	CLU, IL1B, IL6, APOE, CCL5, F8
6	alzheimer's disease	31.5	CLU, APOE, APP, MAPT, PSEN1, PSEN2
7	aicardi-goutieres syndrome	31.0	MT3, ITIH4, APP, MAPT, SNCA, PSEN1
8	poems syndrome	30.7	NCAM1, IL1B, IL6, CST3
9	cerebral amyloid angiopathy	30.7	APOE, APP
10	sepsis	30.4	RECK, FPR1, IL1A, IL1B, IL6, HSPA1A
11	acquired immunodeficiency syndrome	30.4	BAX, ITIH4, IL1B, IL6, APOE, HMOX1
12	down syndrome	30.2	NCAM1, NCAM2, CLU, BAX, MT3, FPR1
13	scrapie	30.2	CLU, CHST8, MSMB, ITIH4, APOE, APP
14	sleep apnea	29.6	IL1B, IL6, APOE, HSPA1A, HMOX1, SOD1
15	creutzfeldt-jakob syndrome	29.4	MT3, MSMB, APOE, APP, MAPT, TPPP3
16	apnea	29.3	BAX, IL1B, IL6, APOE, HSPA1A, HMOX1
17	adult respiratory distress syndrome	29.2	IL1B, IL6, CAT, SOD1, C5
18	paine syndrome	29.1	IL1A, IL1B, IL6, CCL5, HSPA1A, SOD1
19	familial creutzfeldt-jakob disease	29.0	MSMB, APOE, PRND, PRNP
20	tetanus	29.0	ITIH4, IL6, APP, F8, SNAP25, SOD1
21	bladder carcinoma	28.9	CLU, BAX, IL6, MAPK3, MAPK1, PTGS2
22	variant creutzfeldt-jakob disease	28.9	APOE, TPPP3, SPRN, PRND, PRNP
23	insulin resistance	28.7	CLU, IL1B, IL6, APOE, APP, MAPK3
24	bovine spongiform encephalopathy	28.7	PRND, PRNP
25	twinning	28.6	NCAM1, IL1A, IL6, APOE, F8, HSPA1A
26	retinol binding protein	28.5	APP, MAPK3, MAPK1, HSPA5, CST3
27	complex regional pain syndrome	28.5	IL1A, IL1B, IL6, CCL5, SOD1
28	was-related disorders	28.4	IL6, APOE, APP, MAPT, MAP2K2, MAP2K1
29	hearing loss	28.4	BAX, IL1A, APOE, HSPA1A, CAT, PTGS2
30	epilepsy syndrome	28.4	CLU, MT3, MAPK3, HMOX1, NOS1, EGR1
31	hydrocephalus	28.4	APOE, APP, MAPT, TPPP3, NOS1, TGFBR2
32	basal cell carcinoma	28.1	BAX, MSMB, IL1B, IL6, CCL5, PTGS2
33	relapsing-remitting multiple sclerosis	28.1	IL1B, IL6, APOE, MAPT, CCL5
34	squamous cell carcinoma of the head and neck	28.0	NCAM1, BAX, MAPK3, MAPK1, PTGS2, TGFBR2
35	cholera	28.0	IL1A, IL1B, IL6, APP, PRKX, PRKACB
36	thrombosis	27.9	RECK, IL1B, IL6, APOE, F8, CAT
37	cadasil	27.8	APOE, MAPT, MAPK3, F8, TPPP3, PSEN1
38	type 2 diabetes mellitus	27.6	RECK, IL6, APOE, F8, CAT, SOD1
39	insulinoma	27.5	IL1A, IL1B, MAPK1, HSPA5, CAT, SNAP25
40	carcinoid tumors	27.5	NCAM1, MAP2K1, NOTCH1, TGFBR2, CST3, GAST
41	acute myeloid leukemia	27.3	NCAM1, RECK, BAX, IL1B, IL6, MAP2K2
42	proteinuria	27.2	CLU, FYN, APOE, CCL5, CAT, HMOX1
43	obesity	27.1	NCAM2, RECK, CLU, CHST8, IL1A, IL1B
44	gastric adenocarcinoma	27.1	BAX, MAPK1, PTGS2, PRNP, GAST
45	purpura	26.9	RECK, IL1A, IL1B, IL6, F8, CAT
46	synovial sarcoma	26.9	BAX, IL1A, IL1B, IL6, MAPK1, PTGS2
47	early-onset familial alzheimer disease	26.9	APP, PSEN1, PSEN2, CST3
48	pemphigus foliaceus	26.8	BAX, IL1A, IL1B, IL6
49	pick's disease	26.8	MAPT, PSEN1
50	anemia	26.8	NCAM1, CLU, GSS, IL1A, IL1B, IL6

Approved drugs:

Drug clinical trials:

Genetic tests related to prion disease:

id	Genetic test	Affiliating Genes
1	Prion Disease clinical/research	GSS, PRNP

MalaCards organs/tissues related to prion disease:

²²

MGI Mouse Phenotypes related to prion disease:

²⁵ (show all 22)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	endocrine/exocrine gland phenotype	MP:0005379	10.3	PSEN2, PSEN1, RPSA, SNAP25, MSMB, LAMC1
2	hematopoietic system phenotype	MP:0005397	10.2	NOTCH1, RPSA, C8B
3	taste/olfaction phenotype	MP:0005394	9.3	SNCA, SNAP25, MAPK1, MAPT, FYN, NCAM2
4	liver/biliary system phenotype	MP:0005370	9.2	RECK, ITIH4, IL6, EGR1, SOD1
5	immune system phenotype	MP:0005387	9.1	GAST, PRNP, PRND, PSEN2, PSEN1, ELK1
6	respiratory system phenotype	MP:0005388	9.1	C5, PSEN2, PSEN1, NOS1, SNAP25, APOE
7	other phenotype	MP:0005395	8.7	PTGS2, NOS1, PSEN1, PRNP, MAPT, APP
8	integument phenotype	MP:0010771	8.6	NOTCH1, EGR1, PSEN1, PSEN2, OPRD1, SNCA
9	renal/urinary system phenotype	MP:0005367	8.2	PRKACA, PSEN2, PSEN1, C1QA, NOTCH1, SNCA
10	normal phenotype	MP:0002873	8.1	C1QA, TGFBR2, PSEN1, PSEN2, PRNP, SLC22A2
11	skeleton phenotype	MP:0005390	8.0	C5, TGFBR2, EGR1, NOTCH1, NOS1, SNCA
12	reproductive system phenotype	MP:0005389	7.7	PTGS2, SNAP25, SNCA, ELK1, PRND, PRKACA
13	nervous system phenotype	MP:0003631	7.5	SLC1A3, FYN, LAMC1, MT3, BAX, RECK
14	tumorigenesis	MP:0002006	7.1	NOTCH1, EGR1, TGFBR2, PRKACA, CST3, GAST
15	muscle phenotype	MP:0005369	6.3	SNAP25, NOS1, NOTCH1, TGFBR2, PSEN1, PRNP
16	vision/eye phenotype	MP:0005391	6.1	NOS1, NOTCH1, EGR1, TGFBR2, PSEN1, PSEN2
17	behavior/neurological phenotype	MP:0005386	6.0	TARDBP, TGFBR2, EGR1, C1QA, NOS1, PSEN1
18	growth/size phenotype	MP:0005378	5.9	SNAP25, SNCA, NOTCH1, RPSA, EGR1, TGFBR2
19	mortality/aging	MP:0010768	4.8	C1QA, RPSA, NOS1, SNCA, SNAP25, SPRN
20	cardiovascular system phenotype	MP:0005385	4.5	EGR1, RPSA, NOTCH1, NOS1, SNCA, C6
21	cellular phenotype	MP:0005384	3.4	NOTCH1, NOS1, SNCA, PTGS2, HMOX1, CAT
22	homeostasis/metabolism phenotype	MP:0005376	3.1	GAST, C5, SLC22A2, SLC1A3, CST3, SOD1

Articles related to prion disease:

(show top 50)    (show all 117)

id	Title	Authors	Year	Affiliating Genes
1	Toward the molecular basis of inherited prion disease s: NMR structure of the human prion protein with V210I mutation. (21839748)	Biljan I.... Legname G.	2011	PRNP
2	Genetic prion disease with codon 196 PRNP mutation: c linical and pathological findings. (21232818)	Schelzke G.... Zerr I.	2011	PRNP
3	Inherited prion disease with 4-octapeptide repeat ins ertion: disease requires the interaction of multiple genetic risk factors. (21616973)	Kaski D.N.... Mead S.	2011	PRNP
4	The unfolded state of the murine prion protein and pr operties of single-point mutants related to human prion diseases. (20541558)	Gerum C.... Schwalbe H.	2010	PRNP
5	Crystallographic studies of prion protein (PrP) segme nts suggest how structural changes encoded by polymorphism at residue 129 modul ate susceptibility to human prion disease. (20685658)	Apostol M.I.... Eisenberg D.	2010	PRNP
6	Shadoo (Sprn) and prion disease incubation time in mi ce. (19513788)	Lloyd S.E.... Collinge J.	2009	SPRN
7	Mutations at codons 178, 200-129, and 232 contributed to the inherited prion diseases in Korean patients. (19698114)	Choi B.Y.... Ju Y.R.	2009	PRNP
8	Molecular pathology of human prion diseases. (19399233)	Kovacs G.G.... Budka H.	2009	PRNP
9	Human Prion disease with a T188K mutation in Chinese: a case report. (19830016)	Shi Q.... Dong X.P.	2009	PRNP
10	Lack of TAR-DNA binding protein-43 (TDP-43) pathology in human prion diseases. (18657254)	Isaacs A.M.... Brandner S.	2008	PRNP, TARDBP
11	Central and peripheral pathology of kuru: pathological analysis of a recent case and comparison with other forms of human prion disease. (18849292)	Brandner S.... Collinge J.	2008	PRNP
12	Neuropathological diagnosis of prion disease (17695276)	Murayama S.... Sakiyama Y.	2007	PRNP
13	Clinical characteristics and laboratory findings in prion diseases (17695277)	Shiga Y.	2007	TPPP3
14	Mutant prion protein D202N associated with familial prion disease is retained in the endoplasmic reticulum and forms 'curly' intracellular aggregates. (17873292)	Gu Y.... Singh N.	2007	PRNP
15	Comparison of CR36, a new heparan mimetic, and pentos an polysulfate in the treatment of prion diseases. (17325382)	Larramendy-Gozalo C.... Deslys J.P.	2007	PRNP
16	H-type bovine spongiform encephalopathy: complex mole cular features and similarities with human prion diseases. (19164888)	Biacabe A.G.... Baron T.G.	2007	PRNP
17	Kuru in the 21st century--an acquired human prion disease with very long incubation periods. (16798390)	Collinge J.... Alpers M.P.	2006	PRNP
18	Regional brain metabolite abnormalities in inherited prion disease and asymptomatic gene carriers demonstrated in vivo by quantitative proton magnetic resonance spectroscopy. (16598479)	Waldman A.D.... Rossor M.N.	2006	PRNP
19	Phenotypic heterogeneity in inherited prion disease (P102L) is associated with differential propagation of protease-resistant wild-type and mutant prion protein. (16597650)	Wadsworth J.D.... Collinge J.	2006	PRNP
20	Childhood onset in familial prion disease with a novel mutation in the PRNP gene. (16831973)	Rogaeva E.... Lang A.E.	2006	PRNP
21	Biochemical fingerprints of prion diseases: scrapie prion protein in human prion diseases that share prion genotype and type. (15606903)	Pan T.... Sy M.S.	2005	PRNP
22	Diagnosis of human prion disease. (15741275)	Safar J.G.... Prusiner S.B.	2005	PRNP
23	Molecular approaches to mechanisms of prion diseases. (15449458)	Bratosiewicz-Wasik J.... Liberski P.P.	2004	PRNP
24	Soluble dimeric prion protein binds PrP(Sc) in vivo and antagonizes prion disease. (12679034)	Meier P.... Aguzzi A.	2003	PRNP
25	Acquired prion disease: iatrogenic CJD, variant CJD, kuru. (14522863)	Will R.G.	2003	PRNP
26	Evaluation of quinacrine treatment for prion diseases . (12857915)	Barret A.... Deslys J.P.	2003	PRNP
27	Monoclonal antibodies inhibit prion replication and delay the development of prion disease. (12621436)	White A.R.... Hawke S.	2003	PRNP
28	Neuroinflammation in Alzheimer's disease and prion disease. (12379910)	Eikelenboom P.... Williams A.	2002	PRNP
29	Immunohistochemistry for the prion protein: compariso n of different monoclonal antibodies in human prion disease subtypes. (11770893)	KovA!cs G.G.... Budka H.	2002	PRNP
30	Aberrant metal binding by prion protein in human prion disease. (11579148)	Wong B.S.... Brown D.R.	2001	PRNP
31	Prion diseases, update (12235843)	Kitamoto T.	2001	PRNP
32	Marked increase of neuronal prion protein immunoreactivity in Alzheimer's disease and human prion diseases. (11484812)	VoigtlAonder T.... Budka H.	2001	PRNP
33	Differential expression of metallothioneins in human prion diseases. (10940676)	Kawashima T.... Iwaki T.	2000	MT3
34	A transgenic model of a familial prion disease. (11214912)	Harris D.A.... Ghetti B.	2000	PRNP
35	Prion disease: A loss of antioxidant function? (10964653)	Wong B.S.... Sy M.S.	2000	PRNP
36	Solution structure of the E200K variant of human prion protein. Implications for the mechanism of pathogenesis in familial prion diseases. (10954699)	Zhang Y.... Soennichsen F.D.	2000	PRNP
37	An inherited prion disease with a PrP P105L mutation: clinicopathologic and PrP heterogeneity. (10408557)	Yamada M.... Mizusawa H.	1999	PRNP
38	Neuropathological study of cerebellar degeneration in prion disease. (19519645)	Yang Q.... Wang Y.	1999	PRNP
39	The human prion diseases. A review with special emphasis on new variant CJD and comments on surveillance. (10472732)	Keohane C.	1999	PRNP
40	Influence of amino acid substitutions related to inherited human prion diseases on the thermodynamic stability of the cellular prion protein. (10079068)	Liemann S.... Glockshuber R.	1999	PRNP
41	Differential expression of transforming growth factor-beta isoforms in human prion diseases. (9775394)	Tashiro H.... Iwaki T.	1998	TGFBR2
42	Familial Creutzfeldt-Jakob disease. Codon 200 prion disease in Libyan Jews. (9279329)	Meiner Z.... Prusiner S.B.	1997	PRNP
43	Anesthesia and non-conventional transmissible agents (or prion diseases) (9750644)	EstA"be J.P.	1997	PRNP
44	Prion diseases--general aspect (9103903)	Kuroda Y.... Matsui M.	1997	PRNP
45	Prion diseases and a new variant of Creutzfeldt-Jakob disease (9128415)	Doh-ura K.... Kitamoto T.	1996	PRNP
46	Insoluble wild-type and protease-resistant mutant prion protein in brains of patients with inherited prion disease. (8564843)	Gabizon R.... Prusiner S.B.	1996	PRNP
47	Prion protein transgenes and the neuropathology in prion diseases. (7767493)	DeArmond S.J.... Prusiner S.B.	1995	PRNP
48	Prion disease associated with a novel nine octapeptide repeat insertion in the PRNP gene. (8750875)	Krasemann S.... Bodemer W.	1995	PRNP
49	Molecular genetics of human prion diseases. (7913754)	Collinge J.... Palmer M.S.	1994	PRNP
50	Human prion diseases with variant prion protein. (7913756)	Kitamoto T.... Tateishi J.	1994	PRNP

Genes related to prion disease according to GeneCards:

(show top 50)    (show all 71)

id	Symbol	Description	Score	GeneCards Section Context
1	FPR2	formyl peptide receptor 2	11.1	Summaries
2	FPR3	formyl peptide receptor 3	11.1	Summaries
3	FPR1	formyl peptide receptor 1	11.1	Summaries
4	PRNP	prion protein	11.0	Pathways & Interactions, Publications
5	PRND	prion protein 2 (dublet)	11.0	Publications
6	MSMB	microseminoprotein, beta-	11.0
7	RPSA	ribosomal protein SA	11.0
8	PSEN2	presenilin 2 (Alzheimer disease 4)	11.0
9	RECK	reversion-inducing-cysteine-rich protein with kazal motifs	11.0
10	CST3	cystatin C	11.0
11	CLU	clusterin	11.0
12	ITIH4	inter-alpha-trypsin inhibitor heavy chain family, member 4	11.0
13	SNAP25	synaptosomal-associated protein, 25kDa	11.0
14	F8	coagulation factor VIII, procoagulant component	11.0
15	PSEN1	presenilin 1	11.0
16	APP	amyloid beta (A4) precursor protein	11.0	Publications
17	MAPT	microtubule-associated protein tau	11.0
18	SPRN	shadow of prion protein homolog (zebrafish)	11.0	Publications
19	HECTD2	HECT domain containing E3 ubiquitin protein ligase 2	11.0	Publications
20	TPPP3	tubulin polymerization-promoting protein family member 3	11.0	Publications
21	C8G	complement component 8, gamma polypeptide	11.0	Pathways & Interactions
22	C1QB	complement component 1, q subcomponent, B chain	11.0	Pathways & Interactions
23	C1QC	complement component 1, q subcomponent, C chain	11.0	Pathways & Interactions
24	MT3	metallothionein 3	11.0	Publications
25	TXNDC9	thioredoxin domain containing 9	11.0
26	C1QA	complement component 1, q subcomponent, A chain	11.0	Pathways & Interactions
27	PRKACG	protein kinase, cAMP-dependent, catalytic, gamma	11.0	Pathways & Interactions
28	C8B	complement component 8, beta polypeptide	11.0	Pathways & Interactions
29	STIP1	stress-induced-phosphoprotein 1	11.0	Pathways & Interactions
30	ELK1	ELK1, member of ETS oncogene family	11.0	Pathways & Interactions
31	C8A	complement component 8, alpha polypeptide	11.0	Pathways & Interactions
32	GSS	glutathione synthetase	11.0
33	PRKX	protein kinase, X-linked	11.0	Pathways & Interactions
34	MAP2K2	mitogen-activated protein kinase kinase 2	11.0	Pathways & Interactions
35	SLC1A3	solute carrier family 1 (glial high affinity glutamate transporter), member 3	11.0	Publications
36	LAMC1	laminin, gamma 1 (formerly LAMB2)	11.0	Pathways & Interactions
37	TARDBP	TAR DNA binding protein	11.0	Publications
38	PRKACA	protein kinase, cAMP-dependent, catalytic, alpha	11.0	Pathways & Interactions
39	PRKACB	protein kinase, cAMP-dependent, catalytic, beta	11.0	Pathways & Interactions
40	SLC22A2	solute carrier family 22 (organic cation transporter), member 2	11.0	Publications
41	C9	complement component 9	11.0	Pathways & Interactions
42	CHST8	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	11.0	Publications
43	C6	complement component 6	11.0	Pathways & Interactions
44	C7	complement component 7	11.0	Pathways & Interactions
45	C5	complement component 5	11.0	Pathways & Interactions
46	EGR1	early growth response 1	11.0	Pathways & Interactions
47	NOTCH1	notch 1	11.0	Pathways & Interactions
48	OPRD1	opioid receptor, delta 1	11.0
49	HSPA1A	heat shock 70kDa protein 1A	11.0	Pathways & Interactions
50	FYN	FYN oncogene related to SRC, FGR, YES	11.0	Pathways & Interactions

Pathways related to prion disease according to GeneDecks:

(show top 50)    (show all 304)

id	Pathway	Score	Top Affiliating Genes
1	Alternative Complement Pathway36	10.1	C5, C7, C8A, C6, C8B, C8G
2	Lectin Induced Complement Pathway36	10.1	C9, C6, C8G, C8B, C8A, C5
3	Immune response Alternative complement pathway10	10.1	CLU, C7, C6, C9, C8A, C8G
4	Immune response_Alternative complement pathway41	10.1	C8B, C9, C8A, C5, C7, C6
5	Immune response Lectin Induced complement pathway10	10.0	C9, CLU, C7, C6, C5, C8A
6	Immune response_Lectin induced complement pathway41	10.0	C8A, C8B, C8G, C7, C9, C6
7	Complement cascade38	10.0	C7, C8A, C8G, C1QA, C9, C6
8	Development A2B receptor- action via G-protein alpha s10	10.0	ELK1, MAP2K1, MAPK3, PRKACB, PRKACA, PRKACG
9	Complement Pathway36	10.0	C8B, C1QA, C1QB, C6, C9, C7
10	Classical Complement Pathway36	10.0	C1QA, C1QB, C6, C9, C7, C8A
11	Immune response Classic complement pathway10	9.9	C8G, C8B, C8A, C5, C7, C9
12	Immune response_Classical complement pathway41	9.9	CLU, C1QA, C8G, C8B, C8A, C5
13	Development A2A receptor signaling10	9.8	PRKACG, PRKACA, PRKACB, ELK1, MAP2K1, MAPK3
14	Systemic lupus erythematosus20	9.8	C1QC, C6, C1QB, C9, C7, C5
15	Complement and coagulation cascades20	9.8	C8A, C1QB, C6, C9, C5, C8B
16	Apoptosis and survival_BAD phosphorylation41	9.8	MAP2K2, MAP2K1, PRKACG, PRKACA, PRKACB, MAPK3
17	CDK5 Pathway36	9.8	PRKACB, PRKACA, PRKACG, EGR1, MAP2K1, MAP2K2
18	Transcription PPAR Pathway10	9.6	MAPK3, MAPK1, PRKACB, PRKACA, PRKACG
19	Development_A2A receptor signaling41	9.4	MAPK3, MAP2K2, PRKACG, MAP2K1, MAPK1, ELK1
20	Long-term potentiation20	9.4	MAPK3, PRKACB, MAP2K1, MAPK1, PRKACG, PRKACA
21	G-protein signaling G-Protein beta/gamma signaling cascades10	9.4	MAPK1, MAP2K1, PRKACB, PRKACA, PRKACG, MAPK3
22	Development G-Proteins mediated regulation MARK-ERK signaling10	9.4	MAPK1, MAPK3, MAP2K2, MAP2K1, ELK1, PRKACG
23	Development_G-Proteins mediated regulation MARK-ERK signaling41	9.4	PRKACA, MAPK3, PRKACG, PRKACB, ELK1, MAP2K1
24	Development A1 receptor signaling10	9.4	PRKACG, PRKACB, MAPK1, MAP2K1, MAP2K2, ELK1
25	G-protein signaling_G-Protein beta/gamma signaling cascades41	9.4	PRKACA, PRKACB, MAP2K1, MAPK1, PRKACG, MAPK3
26	Development_A1 receptor signaling41	9.4	MAPK3, MAPK1, MAP2K1, ELK1, PRKACB, PRKACG
27	G-protein signaling_G-Protein alpha-i signaling cascades41	9.4	MAP2K2, PRKACG, MAP2K1, MAPK3, PRKACB, PRKACA
28	G-protein signaling G-Protein alpha-i signaling cascades10	9.3	PRKACG, MAP2K2, PRKACA, PRKACB, MAPK3, MAPK1
29	GnRH signaling pathway20	9.3	MAPK1, MAPK3, PRKX, PRKACB, PRKACA, MAP2K2
30	Amoebiasis20	9.1	LAMC1, C8B, C8G, C9, C8A, PRKACG
31	Apoptosis and survival BAD phosphorylation10	9.1	MAP2K1, PRKACB, MAPK3, MAP2K2, BAX, PRKACA
32	Gap junction20	9.1	MAP2K1, MAP2K2, MAPK1, PRKACG, MAPK3, PRKACA
33	HMGB1 Pathway36	9.0	MAPK1, MAPK3, MAP2K1, MAP2K2, IL1B, IL1A
34	Transcription_PPAR Pathway41	8.9	PRKACG, MAP2K1, PRKACB, MAPK3, MAPK1, PTGS2
35	Development_A2B receptor- action via G-protein alpha s41	8.9	MAP2K2, PRKACG, IL6, MAPK3, MAPK1, MAP2K1
36	Insulin signaling pathway20	8.9	MAP2K1, PRKACB, PRKACA, MAP2K2, PRKACG, MAPK1
37	Apoptosis and survival_Anti-apoptotic action of nuclear ESR1 and ESR241	8.8	MAP2K1, BAX, MAP2K2, MAPK3, NOS1, MAPK1
38	Development_HGF signaling pathway41	8.8	MAP2K1, PTGS2, EGR1, ELK1, MAPK3, MAPK1
39	TREM1 Pathway36	8.7	BAX, IL1A, IL1B, MAP2K2, MAPK3, MAPK1
40	Chagas disease (American trypanosomiasis)20	8.7	CCL5, MAPK3, IL6, IL1B, C1QC, TGFBR2
41	Pertussis20	8.7	C1QA, C1QB, C5, MAPK1, MAPK3, IL6
42	Apoptosis and survival Anti-apoptotic action of nuclear ESR1 and ESR210	8.5	NOS1, MAP2K1, MAPK1, MAPK3, MAP2K2, BAX
43	Transcription_Role of VDR in regulation of genes involved in osteoporosis41	8.5	PRKACG, APOE, PRKACA, PRKACB, IL6, IL1B
44	MAPK signaling pathway20	8.3	TGFBR2, HSPA1A, IL1B, PRKACG, PRKACA, MAPT
45	Neuroscience3	8.3	SOD1, PRKACA, PSEN2, PSEN1, TARDBP, EGR1
46	Alzheimers disease20	8.3	PSEN1, IL1B, APOE, APP, MAPT, PSEN2
47	PEDF Induced Signaling36	8.0	IL1B, IL1A, BAX, IL6, MAP2K2, MAPK3
48	Colorectal Cancer Metastasis36	8.0	TGFBR2, IL6, MAP2K2, BAX, MAPK3, MAPK1
49	Molecular Mechanisms of Cancer36	7.8	MAP2K2, PRKACA, PRKACG, FYN, BAX, PSEN1
50	Prion diseases20	4.4	PRNP, PRKACG, PRKACA, PRKACB, PRKX, STIP1

Compounds related to prion disease according to GeneDecks:

(show top 50)    (show all 255)

id	Compound	Score	Top Affiliating Genes
1	glucose32	10.1	ELK1, HSPA1A, SLC1A3, GAST
2	threonine32	10.1	MAPT, PSEN1, PRKACG, MT3, MAP2K2
3	aspartate32	9.3	PSEN2, OPRD1, CST3, SLC1A3, NOTCH1, SNAP25
4	ionomycin32	9.2	ELK1, FYN, FPR1, MAPK3, PSEN1, HSPA5
5	n acetylcysteine32	9.2	CST3, EGR1, SNCA, MAP2K1, MAPT, APOE
6	methionine32	9.1	PSEN1, C5, RECK, MAPT, F8, PRND
7	creatinine32	8.9	IL1A, MT3, NCAM1, MAPT, CCL5, F8
8	pge232	8.7	MAP2K1, IL1A, FPR2, FPR1, ITIH4, CCL5
9	egcg32	8.7	MAP2K1, MAPK3, APP, IL1A, ITIH4, CCL5
10	sb 20358032 42	9.6	GAST, PRNP, ELK1, EGR1, NOS1, SNCA
11	dopamine32 9 18 9	11.6	CLU, SLC22A2, OPRD1, MT3, FYN, ITIH4
12	thapsigargin32 42	9.5	CCL5, HSPA5, HSPA1A, EGR1, OPRD1, APP
13	fmlp32	8.5	FPR2, IL1A, CCL5, FPR3, FPR1, IL1B
14	valine32	8.4	PRNP, ITIH4, APOE, APP, MAPT, HSPA5
15	h2o232	8.3	PSEN1, PSEN2, PRNP, EGR1, NOS1, CLU
16	cyclosporin a32 42	9.3	ELK1, TGFBR2, CST3, NOS1, HMOX1, RECK
17	heparin32 9 18 9	11.3	MAPK3, SNCA, ITIH4, NCAM1, RECK, LAMC1
18	lactacystin32	8.2	APOE, APP, MAPT, HMOX1, MAPK1, HSPA5
19	alanine32	8.1	NCAM1, FYN, ITIH4, FPR1, IL6, MAPK3
20	cysteine32	8.1	GSS, MAPT, MAP2K1, CCL5, HSPA5, HMOX1
21	atp32	8.0	F8, GSS, MAPK3, MAP2K1, EGR1, SLC22A2
22	calcium32 9 18 9	10.8	SNCA, NOS1, MAPK3, SNAP25, C1QA, MAPK1
23	norepinephrine32 9 18 9	10.8	MAPK3, APP, IL6, IL1A, PSEN1, EGR1
24	estrogen32	7.7	HMOX1, HSPA1A, HSPA5, F8, MAP2K1, MAPK3
25	oxygen32 18	8.7	PSEN2, BAX, MT3, PSEN1, FPR1, FPR2
26	glutamine32	7.7	NOS1, HSPA1A, HSPA5, F8, MAPT, APP
27	acetylcholine32 9 18 9	10.6	OPRD1, SNCA, APP, MAPT, EGR1, APOE
28	glutamate32	7.6	GSS, APP, MAPT, MAPK3, MAPK1, MAP2K1
29	lactate32	7.5	HMOX1, SOD1, CST3, SLC22A2, PSEN2, CAT
30	nitric oxide32 9 18 9	10.5	NCAM1, FPR1, IL1A, IL1B, IL6, MAP2K2
31	resveratrol32 9 18 9	10.5	MAPK1, SOD1, GAST, MAPK3, HMOX1, NOS1
32	4-hydroxynonenal32 18	8.4	MAPK1, APP, BAX, SNCA, HMOX1, CAT
33	cholesterol32 9 18 9	10.3	F8, PSEN1, TGFBR2, SNAP25, RECK, CST3
34	nmda32 42	8.3	NCAM1, FYN, ITIH4, IL1A, APOE, APP
35	arsenite32 18	8.3	SOD1, ELK1, HMOX1, CAT, HSPA1A, HSPA5
36	superoxide32 18	8.2	HMOX1, CAT, HSPA1A, HSPA5, MAP2K1, IL1B
37	pd 98,05932	7.0	MAPK1, IL6, IL1B, BAX, RECK, MAPK3
38	pdtc32	6.9	NOS1, IL1A, IL1B, IL6, MAPK1, SOD1
39	curcumin32	6.9	BAX, PSEN2, IL1B, IL6, APP, MAPK3
40	arginine32	6.8	NOS1, PRKACG, RECK, ITIH4, SLC22A2, CST3
41	genistein32 9 18 9	9.6	HSPA5, IL6, MAPT, MAPK3, EGR1, PSEN2
42	retinoic acid32 42 18	8.3	BAX, APP, ELK1, OPRD1, PSEN2, MAPT
43	tyrosine32	6.2	PSEN1, PSEN2, PRKACG, PRNP, OPRD1, SLC22A2
44	dexamethasone32 42 34 9 9	10.0	HSPA1A, F8, CCL5, MAP2K1, MAPK1, MAPK3
45	lipid32	6.0	PSEN1, CCL5, APP, IL6, FPR2, FPR1
46	indomethacin32 9 9	7.5	IL1B, IL6, APOE, MAPK3, IL1A, FPR1
47	actinomycin d32	5.5	PSEN2, TGFBR2, ITIH4, BAX, CLU, IL1A
48	serine32	5.4	SNCA, FPR1, FPR2, GSS, IL1A, APOE
49	vegf32	4.8	PTGS2, NOS1, NOTCH1, EGR1, TGFBR2, PSEN2
50	cycloheximide32	4.5	TGFBR2, MAPT, APOE, IL6, IL1B, IL1A

Cellular components related to prion disease according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	complement component C1 complex	GO:005602	10.3	C1QA, C1QB
2	membrane attack complex	GO:005579	9.9	C6, C8G, C8B, C8A, C5, C7
3	synapse	GO:045202	9.5	SLC1A3, NOS1, SNCA, SNAP25, APP
4	caveola	GO:005901	9.0	TGFBR2, PTGS2, HMOX1, MAPK1, MAPK3
5	perinuclear region of cytoplasm	GO:048471	8.9	PRKACA, NOS1, SNCA, SNAP25, HSPA5, MAP2K1
6	Golgi apparatus	GO:005794	8.4	PRNP, PRKACA, PSEN2, PSEN1, STIP1, CAT
7	extracellular space	GO:005615	6.9	C6, SOD1, CST3, C5, C8A, C8B
8	cytosol	GO:005829	5.9	CAT, HMOX1, SNCA, NOS1, RPSA, PSEN2
9	plasma membrane	GO:005886	5.8	PSEN2, PSEN1, TGFBR2, RPSA, NOTCH1, SNCA
10	extracellular region	GO:005576	5.7	C1QC, C1QB, C6, C9, C7, SOD1

Biological processes related to prion disease according to GeneDecks:

(show top 50)    (show all 56)

id	Name	GO ID	Score	Top Affiliating Genes
1	activation of MAPKK activity	GO:000186	10.7	MAP2K2, PSEN1
2	cellular copper ion homeostasis	GO:006878	10.6	PRNP, PRND, APP
3	complement activation, alternative pathway	GO:006957	10.3	C8G, C8B, C8A, C5, C7, C9
4	anagen	GO:042640	10.2	PSEN2, PSEN1, PTGS2
5	cytolysis	GO:019835	10.1	C8G, C8B, C8A, C5, C7, C9
6	regulation of insulin secretion	GO:050796	10.1	PRKACG, PRKACA, PRKACB, SNAP25, IL1B
7	complement activation	GO:006956	10.1	C8B, C8A, C5, C7, C6, C1QB
8	positive regulation of catalytic activity	GO:043085	10.0	MT3, PSEN1, PSEN2, SOD1
9	intracellular protein kinase cascade	GO:007243	9.9	PRKACG, PRKACA, PRKACB, HMOX1, FYN
10	regulation of early endosome to late endosome transport	GO:2000641	9.9	MAP2K1, MAPK1, MAPK3, MAP2K2
11	regulation of Golgi inheritance	GO:090170	9.9	MAP2K1, MAPK1, MAPK3, MAP2K2
12	regulation of stress-activated MAPK cascade	GO:032872	9.9	MAP2K1, MAPK1, MAPK3, MAP2K2
13	complement activation, classical pathway	GO:006958	9.9	CLU, C8G, C8B, C8A, C5, C7
14	positive regulation of fever generation	GO:031622	9.8	IL1B, CCL5, PTGS2
15	chemotaxis	GO:006935	9.8	C5, CCL5, MAP2K1, MAPK1, FPR3, FPR2
16	stress-activated MAPK cascade	GO:051403	9.8	ELK1, MAP2K1, MAPK1, MAPK3, MAP2K2
17	response to oxidative stress	GO:006979	9.8	PRNP, PSEN1, PTGS2, HMOX1, MAP2K1, GSS
18	MyD88-independent toll-like receptor signaling pathway	GO:002756	9.8	MAP2K2, MAPK3, MAPK1, MAP2K1, ELK1
19	platelet degranulation	GO:002576	9.7	SOD1, HSPA5, F8, APP, CLU
20	cellular component movement	GO:006928	9.7	PTGS2, MAP2K1, FPR3, FPR2, FPR1
21	TRIF-dependent toll-like receptor signaling pathway	GO:035666	9.7	ELK1, MAP2K1, MAPK1, MAPK3, MAP2K2
22	toll-like receptor 1 signaling pathway	GO:034130	9.7	ELK1, MAP2K1, MAPK1, MAPK3, MAP2K2
23	toll-like receptor 3 signaling pathway	GO:034138	9.7	ELK1, MAP2K1, MAPK1, MAPK3, MAP2K2
24	toll-like receptor 2 signaling pathway	GO:034134	9.7	ELK1, MAP2K1, MAPK1, MAPK3, MAP2K2
25	toll-like receptor signaling pathway	GO:002224	9.7	ELK1, MAP2K1, MAPK1, MAPK3, MAP2K2
26	MyD88-dependent toll-like receptor signaling pathway	GO:002755	9.7	ELK1, MAP2K1, MAPK1, MAPK3, MAP2K2
27	Toll signaling pathway	GO:008063	9.7	ELK1, MAP2K1, MAPK1, MAPK3, MAP2K2
28	toll-like receptor 4 signaling pathway	GO:034142	9.6	ELK1, MAP2K1, MAPK1, MAPK3, MAP2K2
29	positive regulation of protein serine/threonine kinase activity	GO:071902	9.6	SNCA, MAP2K1, MAP2K2
30	positive regulation vascular endothelial growth factor production	GO:010575	9.6	IL1A, IL1B, PTGS2, C5
31	positive regulation of angiogenesis	GO:045766	9.6	C5, HMOX1, CCL5, IL1B, IL1A
32	fibroblast growth factor receptor signaling pathway	GO:008543	9.6	PRKACG, PRKACA, PRKACB, MAP2K1, MAPK1, MAPK3
33	epidermal growth factor receptor signaling pathway	GO:007173	9.6	PRKACG, PRKACA, PRKACB, MAP2K1, MAPK1, MAPK3
34	memory	GO:007613	9.5	PSEN2, PSEN1, PTGS2, IL1B
35	positive regulation of JAK-STAT cascade	GO:046427	9.5	IL6, CCL5, NOTCH1
36	protein phosphorylation	GO:006468	9.5	PRKACA, PRKACB, TGFBR2, CCL5, MAPK3, MAP2K2
37	negative regulation of neuron apoptotic process	GO:043524	9.4	SOD1, PSEN1, SNCA, HMOX1, MT3, BAX
38	embryo implantation	GO:007566	9.4	SOD1, PTGS2, IL1B, RECK
39	nerve growth factor receptor signaling pathway	GO:048011	9.4	PRKACG, PRKACA, PRKACB, PSEN2, PSEN1, ELK1
40	MAPK cascade	GO:000165	9.3	CCL5, MAP2K1, MAPK1, MAPK3, MAP2K2, IL1B
41	positive regulation of smooth muscle cell proliferation	GO:048661	9.3	PTGS2, HMOX1, CCL5, IL6
42	axon guidance	GO:007411	9.2	PRNP, STIP1, MAP2K1, MAPK1, MAPK3, MAP2K2
43	response to glucocorticoid stimulus	GO:051384	9.0	C1QB, PTGS2, CCL5, MAP2K1, IL6, IL1B
44	response to hypoxia	GO:001666	8.9	PSEN2, NOS1, CAT, IL1B, IL1A, MT3
45	activation of MAPK activity	GO:000187	8.8	C5, SOD1, MAP2K1, MAPK1, MAPK3, MAP2K2
46	innate immune response	GO:045087	8.7	C9, C7, ELK1, C5, C8A, C8B
47	platelet activation	GO:030168	8.5	SOD1, HSPA5, F8, MAPK1, MAPK3, APP
48	induction of apoptosis	GO:006917	8.5	BAX, APOE, MAPK1, C6, C9, C5
49	blood coagulation	GO:007596	8.3	C9, PRKACB, PRKACA, PRKACG, SOD1, NOS1
50	anti-apoptosis	GO:006916	8.1	SOD1, PRNP, PSEN1, SNCA, HMOX1, HSPA5

Molecular functions related to prion disease according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	N-formyl peptide receptor activity	GO:004982	10.3	FPR3, FPR2, FPR1
2	cAMP-dependent protein kinase activity	GO:004691	10.1	PRKX, PRKACB, PRKACA, PRKACG
3	endopeptidase inhibitor activity	GO:004866	9.9	RECK, ITIH4, CST3, C5
4	copper ion binding	GO:005507	9.3	SOD1, PRNP, PRND, SNCA, F8, IL1A
5	antioxidant activity	GO:016209	9.0	MT3, APOE, CAT
6	protein binding	GO:005515	4.2	CST3, RPSA, C1QA, C1QB, EGR1, C6