Cavernous Malformation malady

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

MalaCards: Cavernous Malformation is related to cerebral cavernous malformation, familial and cerebral cavernous malformations-1. An important gene associated with Cavernous Malformation is CCM2 (cerebral cavernous malformation 2), and among its related pathways are Folding of actin by CCT/TriC and Phosphatases. The compounds threonine and (2S,3S,4E,6E,8S,9S)-3-amino-9-methoxy-2,6,8-trimethyl-10-phenyldeca-4,6-dienoic acid have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and heart, and related mouse phenotypes are craniofacial and respiratory system.

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

cavernous malformation 31

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

(show top 50)    (show all 155)

id	Related Disease	Score	Top Affiliating Genes
1	cerebral cavernous malformation, familial	34.6	PDCD10, CCM2, KRIT1
2	cerebral cavernous malformations-1	33.5	ITGB1BP1, KRIT1
3	familial cerebral cavernous malformation 2	32.7	CCM2, SMURF1, RHOA
4	cerebral cavernous malformations	30.6	PDCD10, KDR, MST4, MOB4, CDKN3, ITGB1BP1
5	venous malformations	30.3	PDCD10, CCM2, KRIT1
6	cerebral cavernous malformations 3	29.5	PDCD10, MST4, MOB4, FGFR1OP, FGFR1OP2, FAM40A
7	hemangioma	27.5	VEGFA, KDR, CDKN3, PTEN, CTNNB1, PDGFB
8	arteriovenous malformation	27.4	VEGFA, KDR, ITGAV, ENG, PTEN, TIE1
9	retinitis	22.4	PDCD10, PCNA, VEGFA, KDR, CDKN3, ITGAV
10	cerebritis	22.3	PDCD10, PCNA, VEGFA, KDR, MST4, MOB4
11	neuronitis	21.7	PDCD10, PCNA, VEGFA, KDR, CDKN3, ITGB1
12	vascular disease	13.9	PDCD10, CCM2, KRIT1
13	cavernous hemangioma of orbit	13.6	PDCD10, CCM2, KRIT1, HBG2
14	proteus syndrome	13.5	PDCD10, CDKN3, PTEN
15	klippel-trenaunay syndrome	13.5	PDCD10, CCM2, KRIT1
16	bannayan-riley-ruvalcaba syndrome	13.4	CDKN3, PTEN
17	trypanosomiasis	13.3	PPP2R1A, PPP2R2D, PPP2R2A, PPP2R2C, PPP2CB, PPP2CA
18	chagas disease	13.3	PPP2R1A, PPP2R2D, PPP2R2A, PPP2R2C, PPP2CB, PPP2CA
19	uterine sarcoma	12.9	KDR, CDKN3, PTEN, PDGFRB
20	adenomatous polyposis coli	12.7	PTPN13, CTNNB1, PPP2R5B, PPP2R5C, PPP2CA, PPP2R5A
21	frozen shoulder	12.6	VEGFA, ITGB1, SLMAP
22	vascular malformations	12.6	VEGFA, ENG, CCM2, SMTN, KRIT1, PECAM1
23	li-fraumeni syndrome	12.5	PCNA, ENG, PTEN, PPP2R1A, PPP2R5E, PPP2R2A
24	hemangioblastoma	12.5	VEGFA, KDR, TIE1, PECAM1
25	myeloproliferative disorder	12.5	KDR, ITGB3, FGFR1OP, ENG, PDGFRB
26	kaposi's sarcoma	12.2	VEGFA, KDR, PDGFB, PECAM1
27	b-cell non-hodgkin lymphoma	12.2	VEGFA, CDKN3, ITGB1, PTEN, PECAM1
28	merkel cell carcinoma	12.2	PCNA, KDR, PTEN, CTNNB1, PDGFA
29	thyroid cancer, follicular	12.1	VEGFA, KDR, CDKN3, PTEN, CTNNB1
30	breast-ovarian cancer	12.0	PCNA, CDKN3, ITGB1, ITGB3, PTEN, KRIT1
31	arteriosclerosis	11.9	ITGB3, PDGFA, PDGFB, PDGFRB, PECAM1
32	pancreatic ductal carcinoma	11.9	PCNA, ITGAV, PTEN, CTNNB1, TIE1, PECAM1
33	desmoid tumor	11.9	PCNA, CTNNB1, PDGFB, PDGFRB
34	pilocytic astrocytoma	11.9	VEGFA, KDR, CDKN3, PTEN, PDGFA, PDGFRB
35	chordoma	11.9	VEGFA, CDKN3, PTEN, PDGFB, PDGFRB
36	anaplastic meningioma	11.7	PCNA, VEGFA, KDR, CDKN3, PTEN, PDGFB
37	pancreatic cancer	11.7	VEGFA, KDR, CTNNB1, PDGFRB, RHOA
38	papillary renal cell carcinoma	11.7	PCNA, VEGFA, KDR, PDGFRB
39	brain injury	11.7	VEGFA, KDR, CDKN3, PTEN, CTNNB1, KRIT1
40	glioblastoma	11.6	VEGFA, KDR, CDKN3, PTEN, PDGFB, PDGFRB
41	brain cancer	11.6	VEGFA, KDR, PTEN, PDGFB, PDGFRB, RHOA
42	angiosarcoma	11.6	VEGFA, KDR, CDKN3, ENG, PTEN, PDGFRB
43	tongue cancer	11.5	PCNA, VEGFA, ENG, PTEN, CTNNB1
44	idiopathic pulmonary fibrosis	11.5	VEGFA, KDR, CDKN3, PDGFA, PDGFB, PDGFRB
45	craniopharyngioma	11.4	PCNA, ENG, CTNNB1, PDGFA, PDGFB, PDGFRB
46	portal hypertension	11.4	VEGFA, KDR, ITGB3, CTNNB1, PDGFRB, PECAM1
47	kidney cancer	11.3	VEGFA, KDR, CDKN3, CTNNB1, PDGFRB
48	sickle cell disease	11.3	VEGFA, ITGAV, ITGB1, ITGB3, ENG, DYNLL1
49	papilloma	11.3	PCNA, VEGFA, CDKN3, ENG, PTEN, PXN
50	wilms tumor	11.3	PCNA, VEGFA, CTNNB1, PPP2R1A, PPP2CA, PPP2R1B

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to cavernous malformation:

²²

MGI Mouse Phenotypes related to cavernous malformation:

²⁵ (show all 13)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	craniofacial phenotype	MP:0005382	9.6	MIB1, GLI3, ITGB1BP1, PDGFRB, CCM2, PDCD10
2	respiratory system phenotype	MP:0005388	8.6	TIE1, HEG1, PDGFB, PPME1, ITGB3, GLI3
3	embryogenesis phenotype	MP:0005380	8.5	PDCD10, TIE1, PXN, HEG1, KRIT1, SMURF1
4	vision/eye phenotype	MP:0005391	6.6	ITGB1, PDCD10, VEGFA, KDR, ITGB1BP1, ITGB3
5	mortality/aging	MP:0010768	6.1	PTEN, PPP2R5D, PPP2R1A, PPP2CA, SMTN, TIE1
6	normal phenotype	MP:0002873	6.1	PDCD10, ITGB5, PTEN, CCM2, ENG, MIB1
7	digestive/alimentary phenotype	MP:0005381	6.1	GLI3, ITGAV, VEGFA, ITGB1, ITGB3, MIB1
8	muscle phenotype	MP:0005369	5.7	VEGFA, PDCD10, KDR, ITGAV, ENG, PECAM1
9	integument phenotype	MP:0010771	5.4	PPP2R5D, CTNNB1, PPP2CA, SMTN, PDGFA, PDGFB
10	hematopoietic system phenotype	MP:0005397	4.9	PTEN, PTPN13, CTNNB1, PECAM1, ITGB3, PDGFB
11	cardiovascular system phenotype	MP:0005385	4.6	PDGFA, SMTN, PPP2CA, PTEN, GLI3, PDGFB
12	growth/size phenotype	MP:0005378	4.4	PPP2R1A, PDGFA, SMTN, PPP2CA, ITGB3, CTNNB1
13	cellular phenotype	MP:0005384	4.2	ITGB5, ITGB3, ITGB1, KDR, VEGFA, PCNA

Articles related to cavernous malformation:

(show top 50)    (show all 106)

id	Title	Authors	Year	Affiliating Genes
1	A novel CCM1 gene mutation causes cerebral cavernous malformation in a Chinese family. (20884211)	Zhao Y.... Mao Y.	2011	KRIT1
2	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
3	Novel KRIT1/CCM1 mutation in a patient with retinal c avernous hemangioma and cerebral cavernous malformation. (20306072)	Reddy S.... Straatsma B.R.	2010	KRIT1
4	Expression of platelet-derived growth factor ligand a nd receptor in cerebral arteriovenous and cavernous malformations. (20822908)	Yildirim O.... Kilic T.	2010	PDGFRB, PDGFB, PDGFA
5	Familial versus sporadic cavernous malformations: dif ferences in developmental venous anomaly association and lesion phenotype. (19833796)	Petersen T.A.... Hart B.L.	2010	KRIT1
6	Recent insights into cerebral cavernous malformations : a complex jigsaw puzzle under construction. (20096036)	Faurobert E.... Albiges-Rizo C.	2010	CCM2
7	Cerebral cavernous malformations proteins inhibit Rho kinase to stabilize vascular integrity. (20308363)	Stockton R.A.... Ginsberg M.H.	2010	KRIT1, CCM2, PDCD10
8	Apoptotic functions of PDCD10/CCM3, the gene mutated in cerebral cavernous malformation 3. (19246713)	Chen L.... Gunel M.	2009	PDCD10
9	Involvement of PTEN promoter methylation in cerebral cavernous malformations. (19118244)	Zhu Y.... Sure U.	2009	PTEN
10	Novel KRIT1 mutation and no molecular evidence of anticipation in a family with cerebral and spinal cavernous malformations. (19092252)	Kuhn J.... Netzer C.	2009	KRIT1
11	Cerebral cavernous malformations: somatic mutations i n vascular endothelial cells. (19574835)	Gault J.... Kleinschmidt-DeMasters B.K.	2009	KRIT1, PDCD10
12	Molecular screening test in familial forms of cerebra l cavernous malformation: the impact of the Multiplex Ligation-dependent Probe Amplification approach. (19199464)	Penco S.... Collice M.	2009	KRIT1, CCM2, PDCD10
13	Functional analyses of human and zebrafish 18-amino a cid in-frame deletion pave the way for domain mapping of the cerebral cavernous malformation 3 protein. (19370760)	Voss K.... Felbor U.	2009	STK25, CCM2, PDCD10
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	Advanced magnetic resonance imaging of cerebral cavernous malformations: part II. Imaging of lesions in murine models. (18981891)	Shenkar R.... Awad I.A.	2008	KRIT1, CCM2
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	Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation. (18383596)	Limaye N.... Vikkula M.	2007	KRIT1
21	CCM3 interacts with CCM2 indicating common pathogenesis for cerebral cavernous malformations. (17657516)	Voss K.... Felbor U.	2007	PTPN13, KRIT1, STK25
22	Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation. (18383587)	Limaye N.... Vikkula M.	2007	KRIT1
23	Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation. (18380023)	Limaye N.... Vikkula M.	2007	KRIT1
24	A novel syndrome of cerebral cavernous malformation and Greig cephalopolysyndactyly. Laboratory investigation. (18154020)	Bilguvar K.... Gunel M.	2007	GLI3, CCM2
25	CCM1 gene deletion identified by MLPA in cerebral cavernous malformation. (17187287)	Gaetzner S.... Felbor U.	2007	KRIT1, CCM2, PDCD10
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	Biallelic somatic and germ line CCM1 truncating mutations in a cerebral cavernous malformation lesion. (15718512)	Gault J.... Awad I.A.	2005	KRIT1, CCM2, PDCD10
28	CCM1 and CCM2 protein interactions in cell signaling: implications for cerebral cavernous malformations pathogenesis. (16037064)	Zawistowski J.S.... Marchuk D.A.	2005	KRIT1, CCM2
29	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
30	Cerebral cavernous malformations (16100539)	Koht J.... Russell M.B.	2005	CCM2
31	Mutations in apoptosis-related gene, PDCD10, cause cerebral cavernous malformation 3. (16284570)	Guclu B.... Gunel M.	2005	CCM2, PDCD10
32	Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations. (15543491)	Bergametti F.... Tournier-Lasserve E.	2005	CCM2, PDCD10
33	CCM3 mutations are uncommon in cerebral cavernous malformations. (16380626)	Verlaan D.J.... Rouleau G.A.	2005	PDCD10
34	Characterization of the integrin alpha v beta3 in arteriovenous malformations and cavernous malformations. (15925879)	Lim M.... Guccione S.	2005	ITGAV
35	Analysis of CCM1 gene mutations in Chinese patients with intracranial cavernous malformations (16321204)	Xie R.... Li X.M.	2005	KRIT1
36	Clinical features of cerebral cavernous malformations patients with KRIT1 mutations. (14755725)	Denier C.... .	2004	KRIT1
37	Identification of Krit1B: a novel alternative splicing isoform of cerebral cavernous malformation gene-1. (14697511)	Retta S.F.... Silengo L.	2004	KRIT1
38	CCM1 mutation screen of sporadic cases with cerebral cavernous malformations. (15079030)	Verlaan D.J.... Siegel A.M.	2004	KRIT1
39	Krev1 interaction trapped-1/cerebral cavernous malformation-1 protein expression during early angiogenesis. (15287459)	Guzeloglu-Kayisli O.... Gunel M.	2004	KRIT1
40	Linkage to the CCM2 locus and genetic heterogeneity in familial cerebral cavernous malformation. (12774951)	Dupre N.... Rouleau G.A.	2003	CCM2
41	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
42	Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations. (14624391)	Liquori C.L.... Marchuk D.A.	2003	CCM2
43	A novel Krit-1 mutation in Han family with cerebral cavernous malformation (12882686)	Xu Y.L.... Heng W.J.	2003	KRIT1
44	Identification of a novel KRIT1 mutation in an Italian family with cerebral cavernous malformation by the protein truncation test. (12810002)	Marini V.... Garre C.	2003	KRIT1
45	Vertebral hemangiomas associated with familial cerebral cavernous malformation: segmental disease expression. Case report. (12296684)	Clatterbuck R.E.... Rigamonti D.	2002	KRIT1
46	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
47	Germline mutations in the CCM1 gene, encoding Krit1, cause cerebral cavernous malformations. (11310633)	Lucas M.... Izquierdo G.	2001	KRIT1
48	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
49	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
50	Mapping a gene causing cerebral cavernous malformation to 7q11.2-q21. (7604043)	Gunel M.... Lifton R.P.	1995	KRIT1

Genes related to cavernous malformation according to GeneCards:

(show top 50)    (show all 76)

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	KRIT1	KRIT1, ankyrin repeat containing	11.1	Publications, Orthologs, Summaries, Aliases & Descriptions
3	PDCD10	programmed cell death 10	11.1	Publications, Summaries, Aliases & Descriptions, Orthologs
4	ITGB1BP1	integrin beta 1 binding protein 1	11.0	Publications
5	SIKE1	suppressor of IKBKE 1	11.0	Publications
6	PPP2R2D	protein phosphatase 2, regulatory subunit B, delta	11.0	Publications
7	PPP2R3B	protein phosphatase 2, regulatory subunit B'', beta	11.0	Publications
8	MOB4	MOB family member 4, phocein	11.0	Publications
9	STK25	serine/threonine kinase 25	11.0	Publications
10	FGFR1OP2	FGFR1 oncogene partner 2	11.0	Publications
11	STRN4	striatin, calmodulin binding protein 4	11.0	Publications
12	TRAF3IP3	TRAF3 interacting protein 3	11.0	Publications
13	PPP2R5B	protein phosphatase 2, regulatory subunit B', beta	11.0	Publications
14	PPFIA3	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	11.0	Publications
15	FAM40A	family with sequence similarity 40, member A	11.0	Publications
16	CCT6B	chaperonin containing TCP1, subunit 6B (zeta 2)	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	DYNLL1	dynein, light chain, LC8-type 1	11.0	Publications
20	IGBP1	immunoglobulin (CD79A) binding protein 1	11.0	Publications
21	FAM40B	family with sequence similarity 40, member B	11.0	Publications
22	PPME1	protein phosphatase methylesterase 1	11.0	Publications
23	FGFR1OP	FGFR1 oncogene partner	11.0	Publications
24	PPP2CB	protein phosphatase 2, catalytic subunit, beta isozyme	11.0	Publications
25	CTTNBP2NL	CTTNBP2 N-terminal like	11.0	Publications
26	CCT5	chaperonin containing TCP1, subunit 5 (epsilon)	11.0	Publications
27	CCT6A	chaperonin containing TCP1, subunit 6A (zeta 1)	11.0	Publications
28	PPP2R5A	protein phosphatase 2, regulatory subunit B', alpha	11.0	Publications
29	CCT4	chaperonin containing TCP1, subunit 4 (delta)	11.0	Publications
30	PPP2R1B	protein phosphatase 2, regulatory subunit A, beta	11.0	Publications
31	PPP2R2A	protein phosphatase 2, regulatory subunit B, alpha	11.0	Publications
32	PPP2CA	protein phosphatase 2, catalytic subunit, alpha isozyme	11.0	Publications
33	CCT2	chaperonin containing TCP1, subunit 2 (beta)	11.0	Publications
34	CCT3	chaperonin containing TCP1, subunit 3 (gamma)	11.0	Publications
35	TCP1	t-complex 1	11.0	Publications
36	CTTNBP2	cortactin binding protein 2	11.0	Publications
37	SLMAP	sarcolemma associated protein	11.0	Publications
38	SMURF1	SMAD specific E3 ubiquitin protein ligase 1	11.0	Publications
39	STRN	striatin, calmodulin binding protein	11.0	Publications
40	STRN3	striatin, calmodulin binding protein 3	11.0	Publications
41	PXN	paxillin	11.0	Publications
42	CCT7	chaperonin containing TCP1, subunit 7 (eta)	11.0	Publications
43	CCT8	chaperonin containing TCP1, subunit 8 (theta)	11.0	Publications
44	STK24	serine/threonine kinase 24	11.0	Publications
45	PPP2R5C	protein phosphatase 2, regulatory subunit B', gamma	11.0	Publications
46	PPP2R5E	protein phosphatase 2, regulatory subunit B', epsilon isoform	11.0	Publications
47	PPP2R1A	protein phosphatase 2, regulatory subunit A, alpha	11.0	Publications
48	PECAM1	platelet/endothelial cell adhesion molecule 1	11.0
49	PPFIA1	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	11.0	Publications
50	RHOA	ras homolog family member A	11.0	Publications

Pathways related to cavernous malformation according to GeneDecks:

(show top 50)    (show all 84)

id	Pathway	Score	Top Affiliating Genes
1	Folding of actin by CCT/TriC38	10.2	CCT8, CCT5, CCT2, CCT6A, CCT3, CCT4
2	Phosphatases3	10.1	IGBP1, PTEN, PPP2R5D, PPP2CA, PPP2R1A, PPP2R2A
3	Cell cycle_Role of APC in cell cycle regulation41	10.1	CCT5, CCT4, CCT8, TCP1, CCT2, CCT6A
4	Cell cycle Role of APC in cell cycle regulation10	10.1	CCT6B, TCP1, CCT8, CCT5, CCT2, CCT6A
5	Cell cycle Regulation of G1/S transition (part 1)10	10.0	PPP2R5B, PPP2R5C, PPP2R5E, PPP2CA, PPP2R3B, PPP2R2A
6	Signal transduction PKA signaling10	10.0	PPP2R5B, PPP2R5D, PPP2R5E, PPP2R5C, PPP2R3B, PPP2R2A
7	Cell cycle_Regulation of G1/S transition (part 1)41	10.0	PPP2R5A, PPP2CA, PPP2R3B, PPP2R5C, PPP2R5E, PPP2R5D
8	Signal transduction_PKA signaling41	10.0	PPP2R5A, PPP2R2C, PPP2R2A, PPP2R3B, PPP2R5C, PPP2R5B
9	Oocyte meiosis20	10.0	PPP2R1A, PPP2R5E, PPP2R5B, PPP2R5A, PPP2R5D, PPP2R1B
10	CTLA4 Signaling36	10.0	PPP2R5A, PPP2R5C, PPP2R2A, PPP2R2C, PPP2R1B, PPP2R5E
11	Cell Cycle Control by BTG Proteins36	9.9	PPP2CB, PPP2R2C, PPP2R2A, PPP2R5C, PPP2R5E, PPP2R1A
12	Mitotic Roles of Polo Like Kinases36	9.9	PPP2R5C, PPP2R1A, PPP2R5A, PPP2R1B, PPP2CA, PPP2CB
13	Cyclins and Cell Cycle Regulation36	9.9	PPP2CB, PPP2CA, PPP2R2A, PPP2R1B, PPP2R1A, PPP2R5C
14	Ceramide Pathway36	9.9	PPP2R5A, PPP2R1A, PPP2R1B, PPP2R5E, PPP2R5C, PPP2R5B
15	BAD Phosphorylation36	9.9	PPP2R5E, PPP2R1A, PPP2R5C, PPP2R2A, PPP2R2C, PPP2CB
16	Beta-Adrenergic Signaling36	9.9	PPP2R5C, PPP2R2A, PPP2R2C, PPP2CB, PPP2CA, PPP2R5A
17	Erythropoietin Pathway36	9.9	PPP2R1A, PPP2R5B, PPP2R5E, PPP2R5C, PPP2R2A, PPP2R2C
18	Regulation of CFTR activity (norm and CF)41	9.8	PPP2R3B, PPP2R5D, PPP2R1B, PPP2CA, PPP2CB, PPP2R2C
19	mRNA surveillance pathway20	9.8	PPP2R5A, PPP2R1B, PPP2CA, PPP2CB, PPP2R2C, PPP2R2A
20	IL-6 Pathway36	9.8	PPP2R1B, PPP2R5D, PPP2R1A, PPP2R5E, PPP2CB, PPP2R2A
21	Chagas disease (American trypanosomiasis)20	9.8	PPP2R1A, PPP2R1B, PPP2CA, PPP2CB, PPP2R2C, PPP2R2A
22	Dopamine-DARPP32 Feedback onto cAMP Pathway36	9.7	PPP2R1B, PPP2R5B, PPP2R1A, PPP2R5E, PPP2R5C, PPP2R5A
23	Neurophysiological process_Glutamate regulation of Dopamine D1A receptor signaling41	9.7	PPP2R5D, PPP2R5B, PPP2R1A, PPP2R5E, STRN3, STRN
24	Neurophysiological process Glutamate regulation of Dopamine D1A receptor signaling10	9.7	STRN3, STRN, PPP2R5A, PPP2R1B, PPP2CA, PPP2CB
25	Akt Signaling36	9.6	PDGFB, PDGFRB, PDGFA, ITGB5
26	Wnt signaling pathway20	9.4	PPP2R5A, PPP2R1B, PPP2CA, PPP2CB, PPP2R5D, PPP2R1A
27	Breast Cancer Regulation by Stathmin136	9.3	PDGFA, PPP2R1B, PPP2CA, PPP2CB, PPP2R5C, PPP2R5E
28	Tight junction20	9.3	CTNNB1, PPP2R2C, RHOA, PPP2CB, PPP2R1B, PPP2R2D
29	mTOR Pathway36	9.3	PPP2R5B, PPP2R5D, PPP2R5E, PPP2R5C, PPP2R2A, PPP2R5A
30	CDK5 Pathway36	9.2	PPP2R5C, PPP2R5E, PPP2R1A, PPP2R5B, ITGB5, ITGB3
31	TGF-Beta Pathway36	9.1	PDGFB, PPP2R5E, PPP2R5B, PDGFA, PPP2R5D, PPP2R1A
32	PKR Pathway36	9.0	PPP2R5B, PPP2R2A, PPP2R1A, PDGFRB, PDGFB, PDGFA
33	Telomerase Components in Cell Signaling36	8.9	KDR, PPP2R5A, PPP2R2C, PPP2R1B, PDGFA, PDGFB
34	Renin-Angiotensin Pathway36	8.8	PPP2R2A, PPP2CA, PPP2R5C, PPP2R2C, PPP2CB, KDR
35	Regulation of eIF4 and p70S6K36	8.6	ITGB1, ITGB3, PPP2R5A, PPP2R1B, PPP2CA, PPP2CB
36	p70S6K Signaling36	8.4	HBG2, PDGFRB, PDGFB, PDGFA, PPP2R5A, PPP2R1B
37	Cell adhesion_Endothelial cell contacts by non-junctional mechanisms41	8.4	ITGB3, CTNNB1, ITGB1, ITGAV, PECAM1, ITGB5
38	Cell adhesion Endothelial cell contacts by non-junctional mechanisms10	8.3	ITGAV, ITGB1, ITGB3, ITGB5, CTNNB1, PECAM1
39	GSK3 Signaling36	8.2	PPP2R5E, KDR, CTNNB1, PPP2R5B, PPP2R1A, PDGFB
40	Angiogenesis3	8.1	PECAM1, PDGFRB, ENG, ITGB1, ITGB5, ITGB3
41	Development_VEGF signaling via VEGFR2 - generic cascades41	7.9	ITGB3, VEGFA, KDR, ITGAV, PXN, RHOA
42	Reelin Pathway (Cajal-Retzius cells)36	7.8	PPP2R5A, PPP2R1B, PPP2CA, PPP2CB, PPP2R2C, PPP2R2A
43	Regulation of actin cytoskeleton20	7.7	PXN, RHOA, PDGFRB, PDGFB, PDGFA, ITGB5
44	Epithelial Tight Junctions36	7.5	PPP2R2A, SMURF1, PPP2R5A, PPP2R1B, PPP2CA, PPP2CB
45	Pathways in cancer20	7.5	PTEN, VEGFA, ITGAV, ITGB1, GLI3, CTNNB1
46	PTEN Pathway36	7.4	PXN, ITGB3, KDR, ITGAV, ITGB1, ITGB5
47	Paxillin Interactions36	7.3	ITGB5, ITGB1, KDR, PXN, ITGAV, PDGFRB
48	ERK Signaling36	7.1	PPP2R1A, PPP2R5E, PDGFRB, PDGFB, PPP2R5C, PPP2R2A
49	ILK Signaling36	6.3	PDGFA, PPP2R5D, PDGFB, PPP2R5B, CTNNB1, PTEN
50	Focal adhesion20	6.3	VEGFA, KDR, ITGAV, ITGB1, ITGB5, PTEN

Compounds related to cavernous malformation according to GeneDecks:

(show all 45)

id	Compound	Score	Top Affiliating Genes
1	threonine32	10.6	STK24, PXN, KRIT1
2	(2S,3S,4E,6E,8S,9S)-3-amino-9-methoxy-2,6,8-trimethyl-10-phenyldeca-4,6-dienoic acid9 9	11.5	PPP2R1A, PPP2CA, PPP2R5C
3	2,6,8-Trimethyl-3-Amino-9-Benzyl-9-Methoxynonanoic Acid9 9	11.5	PPP2R1A, PPP2R5C, PPP2CA, PPP2R2A
4	fostriecin sodium salt42	10.3	PPP2R1A, PPP2R2D, PPP2R3B, PPP2R2C, PPP2R1B, PPP2R2A
5	cantharidin32 42	11.1	PPP2R2C, PPP2R1A, CDKN3, PPP2R1B, PPP2CA, PPP2R2A
6	dmpq dihydrochloride42	9.9	PDGFRB, PDGFB, PDGFA
7	okadaic acid32 42	10.8	PPP2R3B, PPP2R2D, PPP2R2A, PXN, KRIT1, PPP2R1B
8	vanadate32	9.8	PTPN13, PDGFRB, KRIT1, CDKN3, PXN
9	ag 1832 42	10.8	PDGFRB, PDGFA, PDGFB
10	h2o232	9.7	PDGFRB, CDKN3, HBG2, KRIT1
11	calyculin a32 42 9 9	12.7	PPP2R2C, PTEN, PPP2CA, KRIT1, PXN, PECAM1
12	ki 875142	9.6	KDR, VEGFA
13	zm 323881 hydrochloride42	9.5	KDR, VEGFA
14	Antithymocyte globulin9 9	10.5	ITGB1, ITGAV, ITGB3
15	su666832	9.4	PDGFRB, KDR, VEGFA
16	zd647432	9.4	PDGFRB, VEGFA, KDR
17	rapamycin32 42	10.2	VEGFA, KDR, PDGFRB, PECAM1
18	su541632	9.2	VEGFA, KDR, PDGFRB
19	erlotinib32 34 9 9	12.1	PDGFRB, VEGFA, PTEN, CDKN3, KDR
20	geldanamycin32 9 9	11.0	CTNNB1, PXN, KDR, VEGFA
21	gf 109203x32 42	10.0	CTNNB1, PXN, CDKN3, VEGFA, KRIT1, RHOA
22	trastuzumab32 34 9 9	12.0	KDR, VEGFA, PTEN, CTNNB1, CDKN3
23	phosphoinositide32	8.9	PDGFRB, RHOA, CDKN3, PTEN, PXN, KRIT1
24	agar32	8.7	PDGFRB, PTEN, CTNNB1, PDGFB, KDR, RHOA
25	cetuximab32 34 9 9	11.6	PTEN, CDKN3, KDR, CTNNB1, PDGFRB, VEGFA
26	gefitinib32 34 9 9	11.6	KDR, CTNNB1, VEGFA, PDGFRB, PTEN, CDKN3
27	tgf beta132	8.6	PDGFA, ENG, PDGFRB, CTNNB1, PTEN, KDR
28	wortmannin32 42	9.6	ITGB1, RHOA, PXN, CTNNB1, PTEN, CDKN3
29	gemcitabine32 34 9 9	11.5	KDR, PCNA, VEGFA, PTEN, PDGFRB
30	cyclosporin a32 42	9.4	KRIT1, PDGFB, PECAM1, PPP2CB, ITGB1, CDKN3
31	imatinib32 34 9 9	11.3	RHOA, KDR, CTNNB1, PDGFB, PTEN, PDGFRB
32	ly29400232	8.2	VEGFA, KDR, RHOA, PDGFRB, PTEN, CTNNB1
33	phosphotyrosine32	8.1	PDGFRB, PECAM1, PXN, RHOA, KDR, CDKN3
34	nitric oxide32 9 18 9	11.1	KRIT1, DYNLL1, HBG2, RHOA, PECAM1, PXN
35	5fluorouracil32	7.9	PCNA, KDR, RHOA, PTEN, PDGFRB, CTNNB1
36	matrigel32	7.8	ITGB1, PECAM1, RHOA, VEGFA, PXN, ENG
37	paclitaxel32 34 9 9	10.6	PCNA, VEGFA, RHOA, PDGFRB, CTNNB1, PTEN
38	cysteine32	7.6	PTEN, PDGFRB, ENG, ITGB1, KDR, RHOA
39	cycloheximide32	7.6	VEGFA, PECAM1, RHOA, PDGFB, PDGFA, CTNNB1
40	genistein32 9 18 9	10.3	PXN, PCNA, VEGFA, KRIT1, ITGB1, PTEN
41	dexamethasone32 42 34 9 9	11.0	KRIT1, RHOA, PDGFB, PDGFA, CTNNB1, ITGB1
42	paraffin32	6.7	PDGFB, PDGFA, PECAM1, PDGFRB, PCNA, VEGFA
43	estrogen32	5.7	PCNA, ENG, PDGFB, PDGFRB, PECAM1, CTNNB1
44	tyrosine32	5.2	CDKN3, PTEN, VEGFA, TIE1, KRIT1, PECAM1
45	vegf32	5.2	KDR, PECAM1, PXN, ITGB3, PTEN, ITGAV

Cellular components related to cavernous malformation according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	chaperonin-containing T-complex	GO:005832	10.1	CCT3, CCT4, CCT6A, CCT2, CCT7, CCT5
2	chromosome, centromeric region	GO:000775	10.1	PPP2CA, PPP2R1A, PPP2R5C, PPP2R5A, PPP2CB
3	microtubule	GO:005874	9.8	CCT7, CCT4, CCT3, CCT6A, CCT5, CCT8
4	protein phosphatase type 2A complex	GO:000159	9.4	PPP2R5B, STRN3, STRN4, STRN, PPP2R5A, PPP2CA
5	centrosome	GO:005813	9.2	MIB1, FGFR1OP, CCT4, CCT5, CCT8, CTNNB1
6	integrin complex	GO:008305	8.7	ITGAV, ITGB5, ITGB3, ITGB1
7	membrane	GO:016020	7.6	VEGFA, STK24, ITGAV, ITGB1BP1, PPP2R1A, CTNNB1
8	cell surface	GO:009986	7.4	PDGFB, PPFIA3, PDGFA, PPFIA2, ITGB1, VEGFA
9	cytosol	GO:005829	7.4	PPP2R2A, PPP2R2D, PPP2R1A, PPP2R5B, CTNNB1, PTEN
10	cytoplasm	GO:005737	4.5	SNX17, PPFIA3, PPFIA2, PPP2R5A, PPP2R5E, PPP2R5D

Biological processes related to cavernous malformation according to GeneDecks:

(show all 27)

id	Name	GO ID	Score	Top Affiliating Genes
1	de novo posttranslational protein folding	GO:051084	10.1	CCT5, CCT6A, CCT2, CCT4, TCP1, CCT7
2	protein dephosphorylation	GO:006470	10.0	PPP2R2A, PPP2R3B, PPP2CB, PPP2R1A, PTPN13, PTEN
3	regulation of peptidyl-tyrosine phosphorylation	GO:050730	10.0	PDGFRB, PDGFA, PPP2R5B
4	protein folding	GO:006457	10.0	CCT7, CCT6B, CCT3, CCT6A, CCT2, CCT8
5	regulation of DNA replication	GO:006275	9.8	PCNA, PPP2R1A, PPP2CA
6	positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway	GO:035793	9.8	PDGFRB, PDGFB, PDGFA
7	negative regulation of phosphatidylinositol biosynthetic process	GO:010512	9.8	PDGFB, PDGFA
8	cellular protein metabolic process	GO:044267	9.8	TCP1, CCT8, CCT5, CCT2, CCT6A, CCT4
9	metanephric glomerular mesangial cell proliferation involved in metanephros development	GO:072262	9.8	PDGFRB, PDGFB
10	negative regulation of lipoprotein metabolic process	GO:050748	9.6	ITGAV, ITGB3
11	positive regulation of phosphatidylinositol 3-kinase cascade	GO:014068	9.6	PDGFRB, PDGFB, KDR, PDGFA
12	cell migration	GO:016477	9.3	PDGFRB, FAM40B, ITGB1, PTEN, ITGB1BP1, ENG
13	positive regulation of protein autophosphorylation	GO:031954	9.3	VEGFA, PDGFA, PDGFB
14	vasculogenesis	GO:001570	9.2	ENG, VEGFA, HEG1, CCM2, KDR
15	cell migration involved in sprouting angiogenesis	GO:002042	9.1	VEGFA, KDR, ITGB1
16	integrin-mediated signaling pathway	GO:007229	9.1	ITGAV, ITGB1, ITGB3, ITGB5, CCM2
17	positive regulation of MAP kinase activity	GO:043406	9.0	PDCD10, VEGFA, PDGFA, PDGFB, PDGFRB
18	negative regulation of apoptotic process	GO:043066	8.9	PPP2CB, PDCD10, VEGFA, PTEN, GLI3, IGBP1
19	signal transduction	GO:007165	8.8	PPP2R5E, PECAM1, PPP2R2A, PPP2R2D, PPP2R5C, PPP2R5A
20	angiogenesis	GO:001525	8.7	ITGAV, PDCD10, TIE1, KRIT1, PDGFA, PTEN
21	platelet degranulation	GO:002576	8.7	PECAM1, PDGFB, PDGFA, ITGB3, VEGFA
22	cell-matrix adhesion	GO:007160	8.6	PPFIA2, PPFIA1, ITGB5, ITGB3, ITGB1BP1, ITGB1
23	in utero embryonic development	GO:001701	8.5	CTNNB1, GLI3, MIB1, HEG1, ITGB1, PDGFRB
24	positive regulation of endothelial cell proliferation	GO:001938	8.4	PDGFB, KDR, ITGB3, VEGFA
25	positive regulation of cell migration	GO:030335	8.0	KDR, VEGFA, ITGAV, ITGB1, FGFR1OP, PDGFRB
26	positive regulation of cell proliferation	GO:008284	7.8	ITGAV, PTEN, FGFR1OP, PDGFB, PDGFRB, KDR
27	blood coagulation	GO:007596	7.3	VEGFA, ITGAV, ITGB1, ITGB3, PDGFA, PDGFB

Molecular functions related to cavernous malformation according to GeneDecks:

(show all 10)

id	Name	GO ID	Score	Top Affiliating Genes
1	protein phosphatase 2A binding	GO:051721	10.2	PPME1, STRN, STRN4, STRN3
2	armadillo repeat domain binding	GO:070016	10.2	STRN4, STRN, STRN3
3	protein serine/threonine phosphatase activity	GO:004722	9.9	PPP2CB, CDKN3, PTEN, PPP2R1A, PPP2R3B, PPP2R2A
4	unfolded protein binding	GO:051082	9.8	CCT6B, CCT7, CCT4, CCT3, CCT6A, CCT2
5	protein phosphatase type 2A regulator activity	GO:008601	9.7	PPP2R5A, PPP2R2C, PPP2R2A, PPP2R2D, PPP2R3B, PPP2R5C
6	platelet-derived growth factor binding	GO:048407	9.4	PDGFB, PDGFA, PDGFRB
7	cell surface binding	GO:043498	8.8	PDGFA, VEGFA, PDGFB
8	ATP binding	GO:005524	8.7	CCT6B, KDR, MST4, CCT7, CCT4, CCT3
9	platelet-derived growth factor receptor binding	GO:005161	8.3	ITGB3, PDGFA, PDGFB, PDGFRB, VEGFA
10	protein binding	GO:005515	1.8	KRIT1, RHOA, PDGFRB, PDGFB, SMURF1, SNX17