Cerebral Cavernous Malformations malady

NIH Rare Diseases: Cerebral cavernous malformations (CCMs) are collections of small blood vessels (capillaries) in the brain that are enlarged and irregular in structure which lead to altered blood flow. Cavernous malformations can occur anywhere in the body, but usually produce serious signs and symptoms only when they occur in the central nervous system (the brain and spinal cord). Cavernous malformations in the brain and/or spinal cord are called cerebral cavernous malformations.  Approximately 25 percent of individuals with cerebral cavernous malformations never experience any related medical problems. Other people with cerebral cavernous malformations may experience serious symptoms such as headaches, seizures, paralysis, hearing or vision deficiencies, and bleeding in the brain (cerebral hemorrhage). These malformations can change in size and number over time, but they do not become cancerous.  This condition can be sporadic or it can be inherited in an autosomal dominant pattern. Mutations in the KRIT1(CCM1), CCM2, and PDCD10 (CCM3) genes cause cerebral cavernous malformation.³⁰

MalaCards: Cerebral Cavernous Malformations, also known as cerebral cavernous malformation, is related to cerebral cavernous malformation, familial and cerebral cavernous malformations-1. An important gene associated with Cerebral Cavernous Malformations is CCM2 (cerebral cavernous malformation 2), and among its related pathways are Long-term depression and Phosphatases. The drugs interferon alfa-2a and interferon alfa 2-b and the compounds (2S,3S,4E,6E,8S,9S)-3-amino-9-methoxy-2,6,8-trimethyl-10-phenyldeca-4,6-dienoic acid and 2,6,8-Trimethyl-3-Amino-9-Benzyl-9-Methoxynonanoic Acid have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and spinal cord.

NINDS: A cerebral cavernous malformation (CCM) is a collection of small blood vessels (capillaries) in the central nervous system (CNS) that is enlarged and irregular in structure.³¹

Genetics Home Reference: Cerebral cavernous malformations are collections of small blood vessels (capillaries) in the brain that are enlarged and irregular in structure. These capillaries have abnormally thin walls, and they lack other support tissues, such as elastic fibers, which normally make them stretchy. As a result, the blood vessels are prone to leakage, which can cause the health problems related to this condition. Cavernous malformations can occur anywhere in the body, but usually produce serious signs and symptoms only when they occur in the brain and spinal cord (which are described as cerebral).¹⁷

Wikipedia: Cavernous hemangioma is a type of blood vessel malformation (hemangioma) that has relatively large...⁴⁴ more...

cerebral cavernous malformations 7 32 43 cerebral cavernous malformation 30 17 31 familial cerebral cavernous malformation 17 43 cavernous angioma 30 31 ccm 30 17 hemangioma, cavernous, central nervous system 17 central nervous system cavernous hemangioma 17 familial cerebral cavernous angioma 17

intracerebral cavernous hemangioma 17 familial cavernous malformation 17 familial cavernous hemangioma 17 cerebral cavernous hemangioma 30 hemangioma, cavernous 43 cns hemangioma 43 hemangioma 43 cavernoma 30

Disease types for cerebral cavernous malformations family:

cerebral cavernous malformations 3	cerebral cavernous malformations-1
cerebral cavernous malformations-2

Diseases related to cerebral cavernous malformations by text searches and GeneDecks gene sharing:

(show top 50)    (show all 144)

id	Related Disease	Score	Top Affiliating Genes
1	cerebral cavernous malformation, familial	35.4	KRIT1, CCM2, PDCD10
2	cerebral cavernous malformations-1	34.7	KRIT1, ITGB1BP1
3	familial cerebral cavernous malformation 2	33.6	RHOA, SMURF1, CCM2
4	venous malformations	31.3	KRIT1, CCM2, PDCD10
5	klippel-trenaunay syndrome	30.0	KRIT1, CCM2, PDCD10
6	vascular malformations	29.8	PECAM1, KRIT1, SMTN, CCM2
7	cavernous hemangioma of orbit	29.7	KRIT1, CCM2, PDCD10
8	hemangioma	29.7	PECAM1, TIE1, KRIT1, CTNNB1, PTEN, CDKN3
9	cerebral angioma	29.3	CCM2, KRIT1
10	cerebral cavernous malformations 3	28.0	SIKE1, PPP2R2A, PPP2R2D, PPP2R3B, PPP2R5C, PPP2R5E
11	arteriovenous malformation	26.8	PECAM1, TIE1, PTEN, KDR
12	bannayan-riley-ruvalcaba syndrome	26.7	PTEN, CDKN3
13	neuronitis	24.6	PPP2CB, PPP2CA, PPFIA2, PPFIA3, SMURF1, RHOA
14	cavernous malformation	24.3	TIE1, PPP2R3B, PPP2R5C, PPP2R5E, PPP2R1A, PPP2R5D
15	cerebritis	23.5	STRN3, PPP2R5A, PPP2R1B, PPP2CA, PPP2CB, PPP2R2C
16	non-small cell lung carcinoma	23.3	PXN, TIE1, RHOA, CTNNB1, PTEN, CDKN3
17	kaposi's sarcoma	23.1	PECAM1, PXN, TIE1, RHOA, CTNNB1, PTPN13
18	immunodeficiency	22.6	PPP2R2C, PPP2CB, PPP2CA, PPP2R1B, PPP2R5A, RHOA
19	vascular disease	13.6	KRIT1, CCM2, PDCD10
20	proteus syndrome	13.1	PDCD10, CDKN3, PTEN
21	trypanosomiasis	12.9	PPP2R1B, PPP2CA, PPP2CB, PPP2R2C, PPP2R2A, PPP2R2D
22	chagas disease	12.8	PPP2R1B, PPP2CA, PPP2CB, PPP2R2C, PPP2R2A, PPP2R2D
23	thyroid cancer, follicular	12.3	CTNNB1, PTEN, CDKN3, KDR
24	angiosarcoma	12.2	KDR, CDKN3, PTEN, TIE1, PECAM1
25	adenomatous polyposis coli	12.0	RHOA, PPP2R5A, PPP2CA, PPP2R5C, PPP2R5B, CTNNB1
26	renal carcinoma	11.7	PXN, PPP2R5C, CTNNB1, PTEN, IGBP1, CCT8
27	adenoiditis	11.7	PECAM1, PXN, CTNNB1, PTEN, CDKN3, KDR
28	polyposis	11.3	RHOA, PPP2R5A, PPP2CA, PPP2R5C, PPP2R5B, CTNNB1
29	colon carcinoma	10.7	PPP2R5C, PPP2R1B, RHOA, PXN, PECAM1, CTNNB1
30	sclerosing hemangioma	9.0
31	familial cerebral cavernous malformation 3	9.0
32	cerebral cavernous malformations-2	9.0
33	familial cerebral cavernous malformation 1	8.6
34	familial cerebral cavernous malformation 4	8.6
35	pulmonary sclerosing hemangioma	8.5
36	capillary hemangioma	8.4
37	hemangioma of lung	7.8
38	bone epithelioid hemangioma	7.6
39	histiocytoid hemangioma	7.6
40	breast cancer	7.4	PPP2R2A, PPP2CA, PPP2R1B, SMTN, SMURF1, RHOA
41	hemangioma of spleen	7.2
42	hemangioma of intra-abdominal structure	7.2
43	hepatitis	7.2
44	intracranial structure hemangioma	7.2
45	non-involuting congenital hemangioma	7.2
46	ollier disease	7.2
47	spindle cell hemangioma	7.2
48	congenital vascular cavernous malformations	7.2
49	cavernous hemangioma	7.2
50	familial hemangioma	7.2

Approved drugs:

Drug clinical trials:

Inferred drug relations via UMLS/NDF-RT:

^43 28 interferon, interferon alfa 2-b, interferon alfa-2a, interferon alfa-2a,recombinant, interferon alfa-2b,recombinant, interferon alfa-3n,human leukocyte derived, interferon alfacon-1, interferon beta-1a,recombinant, interferon beta-1b,recombinant, interferon gamma-1b, peginterferon alfa-2a, peginterferon alfa-2b

MalaCards organs/tissues related to cerebral cavernous malformations:

²²

Articles related to cerebral cavernous malformations:

(show top 50)    (show all 90)

id	Title	Authors	Year	Affiliating Genes
1	Molecular recognition of leucine-aspartate repeat (LD ) motifs by the focal adhesion targeting homology domain of cerebral cavernous malformation 3 (CCM3). (21632544)	Li X.... Boggon T.J.	2011	PXN, PDCD10
2	Mutation analysis of CCM1, CCM2 and CCM3 genes in a c ohort of Italian patients with cerebral cavernous malformation. (21029238)	D'Angelo R.... Amato A.	2011	KRIT1, CCM2, PDCD10
3	Cerebral cavernous malformation protein CCM1 inhibits sprouting angiogenesis by activating DELTA-NOTCH signaling. (20616044)	Wuestehube J.... Fischer A.	2010	KRIT1
4	Novel KRIT1/CCM1 mutation in a patient with retinal c avernous hemangioma and cerebral cavernous malformation. (20306072)	Reddy S.... Straatsma B.R.	2010	KRIT1
5	Cerebral cavernous malformations proteins inhibit Rho kinase to stabilize vascular integrity. (20308363)	Stockton R.A.... Ginsberg M.H.	2010	KRIT1, CCM2, PDCD10
6	Multiple cerebral cavernous malformations and a novel CCM3 germline deletion in a German family. (20623299)	Choe C.U.... Orth M.	2010	PDCD10
7	Crystal structure of human programmed cell death 10 c omplexed with inositol-(1,3,4,5)-tetrakisphosphate: a novel adaptor protein inv olved in human cerebral cavernous malformation. (20682288)	Ding J.... Wang D.C.	2010	PDCD10
8	Apoptotic functions of PDCD10/CCM3, the gene mutated in cerebral cavernous malformation 3. (19246713)	Chen L.... Gunel M.	2009	PDCD10
9	The cerebral cavernous malformation signaling pathway promotes vascular integrity via Rho GTPases. (19151728)	Whitehead K.J.... Li D.Y.	2009	CCM2
10	Cerebral cavernous malformations: somatic mutations i n vascular endothelial cells. (19574835)	Gault J.... Kleinschmidt-DeMasters B.K.	2009	KRIT1, PDCD10
11	Phosphatase and tensin homolog in cerebral cavernous malformation: a potential role in pathological angiogenesis. (19061355)	Zhu Y.... Sure U.	2009	PTEN, CDKN3
12	A PP2A Phosphatase High Density Interaction Network Identifies a Novel Striatin-interacting Phosphatase and Kinase Complex Linked to the Cerebral Cavernous Malformation 3 (CCM3) Protein. (18782753)	Goudreault M.... Gingras A.C.	2009	PPP2CA, CCT5, PPP2R1A
13	Aberrant splicing due to a silent nucleotide change i n CCM2 gene in a family with cerebral cavernous malformation. (19475721)	Tonelli A.... Bresolin N.	2009	CCM2
14	Cerebral cavernous malformation--its genetic and biological background (19069160)	Fujimura M.... Tominaga T.	2008	CCM2, PDCD10
15	Familial cerebral cavernous malformations: Rio de Janeiro study and review of the recommendations for management. (19099113)	Domingues F.... de Souza J.M.	2008	KRIT1
16	ZPLD1 gene is disrupted in a patient with balanced translocation that exhibits cerebral cavernous malformations. (18632209)	Gianfrancesco F.... Squitieri F.	2008	KRIT1, CCM2, ZPLD1
17	Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation. (18383588)	Limaye N.... Vikkula M.	2007	KRIT1
18	Study of cerebral cavernous malformation in Spain and Portugal: high prevalence of a 14 bp deletion in exon 5 of MGC4607 (CCM2 gene). (17345049)	Ortiz L.... Lucas M.	2007	CCM2
19	Clinical, magnetic resonance imaging, and genetic study of 5 Italian families with cerebral cavernous malformation. (17562932)	Battistini S.... Penco S.	2007	KRIT1, CCM2, PDCD10
20	CCM3 interacts with CCM2 indicating common pathogenesis for cerebral cavernous malformations. (17657516)	Voss K.... Felbor U.	2007	PTPN13, KRIT1, STK25
21	Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation. (18383595)	Limaye N.... Vikkula M.	2007	KRIT1
22	Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation. (18380023)	Limaye N.... Vikkula M.	2007	KRIT1
23	A novel syndrome of cerebral cavernous malformation and Greig cephalopolysyndactyly. Laboratory investigation. (18154020)	Bilguvar K.... Gunel M.	2007	GLI3, CCM2
24	Large germline deletions and duplication in isolated cerebral cavernous malformation patients. (17211633)	Felbor U.... Siegel A.M.	2007	CCM2
25	Sorting nexin 17, a non-self-assembling and a PtdIns(3)P high class affinity protein, interacts with the cerebral cavernous malformation related protein KRIT1. (16712798)	Czubayko M.... Bohnensack R.	2006	KRIT1, SNX17
26	Neuronal expression of the Ccm2 gene in a new mouse model of cerebral cavernous malformations. (16465592)	Plummer N.W.... Marchuk D.A.	2006	ITGB1BP1, CCM2
27	A novel deletion mutation in CCM1 gene (krit1) is detected in a Chinese family with cerebral cavernous malformations. (16529293)	Ji B.H.... Wang Y.J.	2006	KRIT1, CCM2, PDCD10
28	Biallelic somatic and germ line CCM1 truncating mutations in a cerebral cavernous malformation lesion. (15718512)	Gault J.... Awad I.A.	2005	KRIT1, CCM2, PDCD10
29	CCM1 and CCM2 protein interactions in cell signaling: implications for cerebral cavernous malformations pathogenesis. (16037064)	Zawistowski J.S.... Marchuk D.A.	2005	KRIT1, CCM2
30	Variations in structural protein expression and endothelial cell proliferation in relation to clinical manifestations of cerebral cavernous malformations. (15670382)	Shenkar R.... Awad I.A.	2005	SMTN
31	Cerebral cavernous malformations (16100539)	Koht J.... Russell M.B.	2005	CCM2
32	A novel gene mutation (1292 deletion) in a Chinese family with cerebral cavernous malformations. (15854263)	Mao Y.... Yang G.Y.	2005	NUPR1
33	Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations. (15543491)	Bergametti F.... Tournier-Lasserve E.	2005	CCM2, PDCD10
34	Mutations within the MGC4607 gene cause cerebral cavernous malformations. (14740320)	Denier C.... Tournier-Lasserve E.	2004	CCM2
35	Clinical features of cerebral cavernous malformations patients with KRIT1 mutations. (14755725)	Denier C.... .	2004	KRIT1
36	KRIT1/cerebral cavernous malformation 1 protein localizes to vascular endothelium, astrocytes, and pyramidal cells of the adult human cerebral cortex. (15046662)	Guzeloglu-Kayisli O.... Gunel M.	2004	KRIT1, ITGB1BP1
37	Variable expression of cerebral cavernous malformations in carriers of a premature termination codon in exon 17 of the Krit1 gene. (12877753)	Lucas M.... Izquierdo G.	2003	KRIT1
38	A novel Krit-1 mutation in Han family with cerebral cavernous malformation (12882686)	Xu Y.L.... Heng W.J.	2003	KRIT1
39	Identification of a novel inheritable CCM1 gene mutation of 671del AT in a Chinese family with cerebral cavernous malformation (14642111)	Mao Y.... Gong J.L.	2003	KRIT1
40	Mutation and expression analysis of the KRIT1 gene associated with cerebral cavernous malformations (CCM1). (12172908)	Kehrer-Sawatzki H.... Hameister H.	2002	KRIT1
41	KRIT1, a gene mutated in cerebral cavernous malformation, encodes a microtubule-associated protein. (12140362)	Gunel M.... Lifton R.P.	2002	KRIT1, ITGB1BP1
42	KRIT1 association with the integrin-binding protein ICAP-1: a new direction in the elucidation of cerebral cavernous malformations (CCM1) pathogenesis. (11854171)	Zawistowski J.S.... Marchuk D.A.	2002	KRIT1, ITGB1BP1
43	Spectrum and expression analysis of KRIT1 mutations in 121 consecutive and unrelated patients with Cerebral Cavernous Malformations. (12404106)	Cave-Riant F.... Tournier-Lasserve E.	2002	KRIT1, CCM2, PDCD10
44	Cerebral cavernous malformations: mutations in Krit1. (11914398)	Verlaan D.J.... Rouleau G.A.	2002	KRIT1
45	CCM1 gene mutations in families segregating cerebral cavernous malformations. (11222804)	Davenport W.J.... Rouleau G.A.	2001	KRIT1
46	Interaction between krit1 and icap1alpha infers perturbation of integrin beta1-mediated angiogenesis in the pathogenesis of cerebral cavernous malformation. (11741838)	Zhang J.... Dietz H.C.	2001	KRIT1, ITGB1BP1
47	Germline mutations in the CCM1 gene, encoding Krit1, cause cerebral cavernous malformations. (11310633)	Lucas M.... Izquierdo G.	2001	KRIT1
48	Mutations in KRIT1 in familial cerebral cavernous malformations. (10807272)	Zhang J.... Dietz H.C.	2000	KRIT1
49	Mutations in the gene encoding KRIT1, a Krev-1/rap1a binding protein, cause cerebral cavernous malformations (CCM1). (10545614)	Sahoo T.... Marchuk D.A.	1999	KRIT1
50	Multilocus linkage identifies two new loci for a mendelian form of stroke, cerebral cavernous malformation, at 7p15-13 and 3q25.2-27. (9811928)	Craig H.D.... Lifton R.P.	1998	CCM2, PDCD10

Genes related to cerebral cavernous malformations according to GeneCards:

(show top 50)    (show all 64)

id	Symbol	Description	Score	GeneCards Section Context
1	CCM2	cerebral cavernous malformation 2	11.1	Transcripts, Summaries, Orthologs, Aliases & Descriptions (show all 5 sections) Publications
2	PDCD10	programmed cell death 10	11.1	Publications, Aliases & Descriptions, Orthologs, Summaries
3	KRIT1	KRIT1, ankyrin repeat containing	11.1	Orthologs, Aliases & Descriptions, Publications, Summaries
4	ITGB1BP1	integrin beta 1 binding protein 1	11.0	Publications
5	STK25	serine/threonine kinase 25	11.0	Publications
6	PPP2R3B	protein phosphatase 2, regulatory subunit B'', beta	11.0	Publications
7	SIKE1	suppressor of IKBKE 1	11.0	Publications
8	PPP2R2D	protein phosphatase 2, regulatory subunit B, delta	11.0	Publications
9	MOB4	MOB family member 4, phocein	11.0	Publications
10	FGFR1OP2	FGFR1 oncogene partner 2	11.0	Publications
11	STRN4	striatin, calmodulin binding protein 4	11.0	Publications
12	PPFIA3	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	11.0	Publications
13	FAM40A	family with sequence similarity 40, member A	11.0	Publications
14	PPP2R5B	protein phosphatase 2, regulatory subunit B', beta	11.0	Publications
15	CCT6B	chaperonin containing TCP1, subunit 6B (zeta 2)	11.0	Publications
16	TRAF3IP3	TRAF3 interacting protein 3	11.0	Publications
17	MST4	serine/threonine protein kinase MST4	11.0	Publications
18	PPP2R5D	protein phosphatase 2, regulatory subunit B', delta	11.0	Publications
19	FAM40B	family with sequence similarity 40, member B	11.0	Publications
20	DYNLL1	dynein, light chain, LC8-type 1	11.0	Publications
21	IGBP1	immunoglobulin (CD79A) binding protein 1	11.0	Publications
22	FGFR1OP	FGFR1 oncogene partner	11.0	Publications
23	PPME1	protein phosphatase methylesterase 1	11.0	Publications
24	CTTNBP2NL	CTTNBP2 N-terminal like	11.0	Publications
25	PPP2CB	protein phosphatase 2, catalytic subunit, beta isozyme	11.0	Publications
26	PPP2R1B	protein phosphatase 2, regulatory subunit A, beta	11.0	Publications
27	PPP2R2A	protein phosphatase 2, regulatory subunit B, alpha	11.0	Publications
28	PPP2R1A	protein phosphatase 2, regulatory subunit A, alpha	11.0	Publications
29	PXN	paxillin	11.0	Publications
30	SLMAP	sarcolemma associated protein	11.0	Publications
31	SMURF1	SMAD specific E3 ubiquitin protein ligase 1	11.0	Publications
32	PPP2R5A	protein phosphatase 2, regulatory subunit B', alpha	11.0	Publications
33	PPP2R5C	protein phosphatase 2, regulatory subunit B', gamma	11.0	Publications
34	CCT5	chaperonin containing TCP1, subunit 5 (epsilon)	11.0	Publications
35	PPP2R5E	protein phosphatase 2, regulatory subunit B', epsilon isoform	11.0	Publications
36	CCT8	chaperonin containing TCP1, subunit 8 (theta)	11.0	Publications
37	CCT7	chaperonin containing TCP1, subunit 7 (eta)	11.0	Publications
38	CCT6A	chaperonin containing TCP1, subunit 6A (zeta 1)	11.0	Publications
39	CCT4	chaperonin containing TCP1, subunit 4 (delta)	11.0	Publications
40	CCT3	chaperonin containing TCP1, subunit 3 (gamma)	11.0	Publications
41	CCT2	chaperonin containing TCP1, subunit 2 (beta)	11.0	Publications
42	TCP1	t-complex 1	11.0	Publications
43	CTTNBP2	cortactin binding protein 2	11.0	Publications
44	PPP2CA	protein phosphatase 2, catalytic subunit, alpha isozyme	11.0	Publications
45	PPFIA1	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	11.0	Publications
46	STRN	striatin, calmodulin binding protein	11.0	Publications
47	STRN3	striatin, calmodulin binding protein 3	11.0	Publications
48	STK24	serine/threonine kinase 24	11.0	Publications
49	RHOA	ras homolog family member A	11.0	Publications
50	PPFIA2	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	11.0	Publications

Pathways related to cerebral cavernous malformations according to GeneDecks:

(show all 45)

id	Pathway	Score	Top Affiliating Genes
1	Long-term depression20	10.0	PPP2R1A, PPP2CB, PPP2CA, PPP2R1B
2	Phosphatases3	9.9	PPP2CA, PPP2R2A, PPP2R1A, PPP2R5D, PTEN, IGBP1
3	Signal transduction_PKA signaling41	9.8	PPP2R5D, PPP2R5E, PPP2R5C, PPP2R3B, PPP2R2A, PPP2R2C
4	Signal transduction PKA signaling10	9.8	PPP2R5A, PPP2R5B, PPP2R5D, PPP2R5E, PPP2R5C, PPP2R3B
5	CTLA4 Signaling36	9.8	PPP2R5A, PPP2R1B, PPP2R2C, PPP2R2A, PPP2R5C, PPP2R5E
6	Oocyte meiosis20	9.8	PPP2R5D, PPP2R1A, PPP2R5E, PPP2R5C, PPP2CB, PPP2CA
7	Folding of actin by CCT/TriC38	9.7	TCP1, CCT7, CCT4, CCT3, CCT6A, CCT2
8	Chagas disease (American trypanosomiasis)20	9.7	PPP2R1B, PPP2CA, PPP2CB, PPP2R2C, PPP2R2A, PPP2R2D
9	TGF-beta signaling pathway20	9.7	RHOA, SMURF1, PPP2R1B, PPP2CA, PPP2CB, PPP2R1A
10	Hepatitis C20	9.7	PPP2R1B, PPP2CA, PPP2CB, PPP2R2C, PPP2R2A, PPP2R2D
11	Cell cycle Regulation of G1/S transition (part 1)10	9.7	PPP2R2C, PPP2CB, PPP2CA, PPP2R5A, PPP2R2A, PPP2R3B
12	Cell cycle_Regulation of G1/S transition (part 1)41	9.7	PPP2R2C, PPP2CB, PPP2CA, PPP2R5A, PPP2R2A, PPP2R3B
13	Cell Cycle Control by BTG Proteins36	9.6	PPP2R5B, PPP2R1A, PPP2R5E, PPP2R5C, PPP2R2A, PPP2R2C
14	Mitotic Roles of Polo Like Kinases36	9.6	PPP2R5A, PPP2R1B, PPP2CA, PPP2R5B, PPP2R1A, PPP2R5E
15	PKR Pathway36	9.6	PPP2R5A, PPP2R1B, PPP2CA, PPP2CB, PPP2R2C, PPP2R2A
16	Cell cycle_Role of APC in cell cycle regulation41	9.6	TCP1, CCT8, CCT5, CCT2, CCT6A, CCT3
17	Cyclins and Cell Cycle Regulation36	9.6	PPP2CB, PPP2CA, PPP2R1B, PPP2R5A, PPP2R2C, PPP2R2A
18	Cell cycle Role of APC in cell cycle regulation10	9.6	TCP1, CCT8, CCT5, CCT2, CCT6A, CCT3
19	Ceramide Pathway36	9.6	PPP2CB, PPP2CA, PPP2R1B, PPP2R5A, PPP2R2C, PPP2R2A
20	BAD Phosphorylation36	9.6	PPP2CB, PPP2CA, PPP2R1B, PPP2R5A, PPP2R2C, PPP2R2A
21	Erythropoietin Pathway36	9.6	PPP2R5A, PPP2R1B, PPP2CA, PPP2CB, PPP2R2C, PPP2R2A
22	Beta-Adrenergic Signaling36	9.5	PPP2CB, PPP2CA, PPP2R1B, PPP2R5A, PPP2R2C, PPP2R2A
23	Regulation of CFTR activity (norm and CF)41	9.5	PPP2R5A, PPP2R1B, PPP2CA, PPP2R5D, PPP2R1A, PPP2R5E
24	Cytoskeleton remodeling_FAK signaling41	9.5	PXN, RHOA, PTEN, KDR
25	IL-6 Pathway36	9.5	PPP2R5A, PPP2R1B, PPP2CA, PPP2CB, PPP2R2C, PPP2R2A
26	Regulation of eIF4 and p70S6K36	9.4	PPP2CB, PPP2CA, PPP2R1B, PPP2R5A, PPP2R2C, PPP2R2A
27	mTOR Pathway36	9.4	PPP2CB, PPP2CA, PPP2R1B, PPP2R5A, PPP2R2C, PPP2R2A
28	mRNA surveillance pathway20	9.4	PPP2R5A, PPP2R5C, PPP2R3B, PPP2R2D, PPP2R2A, PPP2R2C
29	Telomerase Components in Cell Signaling36	9.4	PPP2R5A, PPP2R1B, KDR, PPP2R5B, PPP2R5D, PPP2R1A
30	Dopamine-DARPP32 Feedback onto cAMP Pathway36	9.4	PPP2R5A, PPP2R1B, PPP2CA, PPP2CB, PPP2R2C, PPP2R2A
31	Cytoskeleton remodeling FAK signaling10	9.3	PXN, RHOA, PTEN, KDR
32	p70S6K Signaling36	9.2	PPP2R5A, PPP2R1B, PPP2CA, PPP2CB, PPP2R2C, PPP2R2A
33	Renin-Angiotensin Pathway36	9.2	PPP2R5A, PPP2R1B, PPP2CA, PPP2CB, PPP2R2C, PPP2R2A
34	TGF-Beta Pathway36	9.2	PPP2R2C, PPP2CB, PPP2CA, PPP2R1B, PPP2R5A, PPP2R2A
35	Breast Cancer Regulation by Stathmin136	9.1	PPP2CB, PPP2CA, PPP2R1B, PPP2R5A, PPP2R2C, PPP2R2A
36	Wnt signaling pathway20	9.1	RHOA, PPP2R5A, PPP2R1B, PPP2CA, PPP2CB, PPP2R5C
37	Neurophysiological process Glutamate regulation of Dopamine D1A receptor signaling10	9.1	PPP2R5B, PPP2R5A, STRN, STRN3, PPP2R1B, PPP2CA
38	Neurophysiological process_Glutamate regulation of Dopamine D1A receptor signaling41	9.1	PPP2R5B, PPP2R5D, PPP2R1A, PPP2R5E, PPP2R5C, PPP2R3B
39	Reelin Pathway (Cajal-Retzius cells)36	9.1	PPP2CB, PPP2CA, PPP2R1B, PPP2R5A, PPP2R2C, PPP2R2A
40	CDK5 Pathway36	9.0	PPP2R5A, PPP2R1B, PPP2CA, PPP2CB, PPP2R2C, PPP2R2A
41	ERK Signaling36	8.9	PPP2R5A, PPP2R1B, PPP2CA, PPP2CB, PPP2R2C, PPP2R2A
42	Tight junction20	8.9	PPP2CB, PPP2CA, PPP2R1B, RHOA, PPP2R2C, PPP2R2A
43	GSK3 Signaling36	8.7	PPP2R2C, PPP2CB, PPP2CA, PPP2R1B, PPP2R5A, PPP2R2A
44	Epithelial Tight Junctions36	8.7	PPP2CB, PPP2CA, PPP2R1B, PPP2R5A, SMURF1, PPP2R2C
45	ILK Signaling36	8.3	PPP2R2C, PPP2CB, PPP2CA, PPP2R1B, PPP2R5A, PXN

Compounds related to cerebral cavernous malformations according to GeneDecks:

(show all 15)

id	Compound	Score	Top Affiliating Genes
1	(2S,3S,4E,6E,8S,9S)-3-amino-9-methoxy-2,6,8-trimethyl-10-phenyldeca-4,6-dienoic acid9 9	11.3	PPP2R1A, PPP2R5C, PPP2CA
2	2,6,8-Trimethyl-3-Amino-9-Benzyl-9-Methoxynonanoic Acid9 9	11.2	PPP2CA, PPP2R2A, PPP2R5C, PPP2R1A
3	1-oleoyl-lyso-phosphatidic acid32	10.1	PXN, RHOA
4	fostriecin sodium salt42	9.9	PPP2R3B, PPP2R2D, PPP2R2A, PPP2R2C, PPP2CA, PPP2R1B
5	cantharidin32 42	10.6	PPP2R1B, PPP2CA, CDKN3, PPP2R1A, PPP2R3B, PPP2R2D
6	gf 109203x32 42	10.4	PXN, KRIT1, RHOA, CTNNB1, CDKN3
7	cetuximab32 34 9 9	12.3	CTNNB1, PTEN, CDKN3, KDR
8	cytochalasin d32 42	10.2	PECAM1, PXN, RHOA, CTNNB1, CDKN3
9	trastuzumab32 34 9 9	12.2	KDR, CDKN3, PTEN, CTNNB1
10	okadaic acid32 42	10.1	PXN, KRIT1, PPP2R1B, PPP2CA, PPP2R2C, PPP2R2A
11	calyculin a32 42 9 9	11.9	CDKN3, PECAM1, PXN, KRIT1, PPP2R1B, PPP2CA
12	inositol32	8.8	KRIT1, RHOA, CTNNB1, PTEN, CDKN3
13	phosphoinositide32	8.8	CDKN3, PTEN, CTNNB1, RHOA, KRIT1, PXN
14	threonine32	8.2	PECAM1, STK24, PXN, KRIT1, RHOA, PPP2R1B
15	phosphotyrosine32	8.1	PECAM1, PXN, RHOA, CTNNB1, PTPN13, PTEN

Cellular components related to cerebral cavernous malformations according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	chromosome, centromeric region	GO:000775	9.6	PPP2R5A, PPP2CA, PPP2CB, PPP2R5C, PPP2R1A
2	chaperonin-containing T-complex	GO:005832	9.5	TCP1, CCT5, CCT2, CCT6A, CCT3, CCT4
3	centrosome	GO:005813	9.2	FGFR1OP, CCT4, CCT5, CCT8, DYNLL1, CTNNB1
4	microtubule	GO:005874	9.1	TCP1, DYNLL1, CCT8, CCT5, CCT2, CCT6A
5	protein phosphatase type 2A complex	GO:000159	8.8	PPP2R5B, STRN3, STRN4, STRN, PPP2R5A, PPP2CA
6	cytosol	GO:005829	5.8	CTNNB1, PPP2R5B, PPP2R1A, PPP2R2D, PPP2R2A, PPP2CB
7	cytoplasm	GO:005737	4.1	PPFIA3, PPFIA2, PPP2R5A, PPP2R5E, PPP2R5D, PPFIA1

Biological processes related to cerebral cavernous malformations according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	de novo posttranslational protein folding	GO:051084	9.4	CCT7, TCP1, CCT8, CCT5, CCT2, CCT6A
2	cell-matrix adhesion	GO:007160	9.4	PXN, RHOA, PPFIA2, PPFIA1, ITGB1BP1
3	cellular protein metabolic process	GO:044267	9.3	CCT8, CCT5, CCT2, CCT6A, CCT3, CCT4
4	protein folding	GO:006457	9.2	SLMAP, TCP1, CCT8, CCT5, CCT2, CCT6A
5	protein dephosphorylation	GO:006470	9.0	PPP2CA, PPP2CB, PPP2R2A, PPP2R3B, PPP2R1A, PTPN13
6	signal transduction	GO:007165	7.8	SNX17, TIE1, PXN, STK25, STK24, PECAM1

Molecular functions related to cerebral cavernous malformations according to GeneDecks:

(show all 7)

id	Name	GO ID	Score	Top Affiliating Genes
1	protein phosphatase 2A binding	GO:051721	9.8	PPME1, STRN, STRN4, STRN3
2	armadillo repeat domain binding	GO:070016	9.7	STRN3, STRN4, STRN
3	protein serine/threonine phosphatase activity	GO:004722	9.5	PPP2CB, PPP2R2A, PPP2R3B, PPP2R1A, PTEN, CDKN3
4	protein phosphatase type 2A regulator activity	GO:008601	9.4	PPP2R5A, PPP2R2C, PPP2R2A, PPP2R2D, PPP2R3B, PPP2R5C
5	unfolded protein binding	GO:051082	9.2	SLMAP, TCP1, CCT8, CCT5, CCT2, CCT6A
6	ATP binding	GO:005524	8.1	STK25, TCP1, TIE1, CCT8, CCT5, CCT2
7	protein binding	GO:005515	2.7	STRN4, STRN, STK25, PXN, TIE1, KRIT1