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MCID: CRB191
MIFTS: 49

Cerebral Cavernous Malformations 2

Categories: Genetic diseases, Cancer diseases, Neuronal diseases, Rare diseases, Eye diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Cerebral Cavernous Malformations 2

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MalaCards integrated aliases for Cerebral Cavernous Malformations 2:

Name: Cerebral Cavernous Malformations 2 57 75 29 6 73
Ccm2 57 12 75
Cerebral Cavernous Malformations-2 57 13
Cerebral Cavernous Malformation 2 12 15
Cerebral Cavernous Malformations, Type 2 40
Cavernous Angiomatous Malformations 75
Cavernous Hemangioma of the Brain 75
Cerebral Capillary Malformations 75
Familial Cavernous Angioma 75
Cerebral Cavernoma 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity (see for summary)
sporadic cases often single lesions versus multiple lesions in familial cases


HPO:

32
cerebral cavernous malformations 2:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:

MalaCards categories:
Global: Genetic diseases Cancer diseases Rare diseases
Anatomical: Neuronal diseases Eye diseases
See all MalaCards categories (disease lists)
ICD10: 33


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Summaries for Cerebral Cavernous Malformations 2

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UniProtKB/Swiss-Prot : 75 Cerebral cavernous malformations 2: A congenital vascular anomaly of the central nervous system that can result in hemorrhagic stroke, seizures, recurrent headaches, and focal neurologic deficits. The lesions are characterized by grossly enlarged blood vessels consisting of a single layer of endothelium and without any intervening neural tissue, ranging in diameter from a few millimeters to several centimeters.

MalaCards based summary : Cerebral Cavernous Malformations 2, also known as ccm2, is related to cavernous malformation and cerebral cavernous malformations, and has symptoms including seizures and headache recurrent. An important gene associated with Cerebral Cavernous Malformations 2 is CCM2 (CCM2 Scaffold Protein), and among its related pathways/superpathways are GPCR Pathway and TGF-Beta Pathway. The drug Diazepam has been mentioned in the context of this disorder. Affiliated tissues include brain and endothelial, and related phenotypes are telangiectasia and seizures

Disease Ontology : 12 A cerebral cavernous malformation that_has_material_basis in mutation in the CCM2 gene on chromosome 7p13.

Description from OMIM: 603284
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Related Diseases for Cerebral Cavernous Malformations 2

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Diseases in the Cerebral Cavernous Malformations family:

Cerebral Cavernous Malformations 2 Cerebral Cavernous Malformations 3
Cerebral Cavernous Malformation, Familial

Diseases related to Cerebral Cavernous Malformations 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 18)
# Related Disease Score Top Affiliating Genes
1 cavernous malformation 30.2 CCM2 CCM2L KRIT1 MAP3K3 PDCD10
2 cerebral cavernous malformations 30.2 CCM2 CCM2L KRIT1 MAP3K3 PDCD10
3 intracranial structure hemangioma 10.5 KRIT1 SNRPB
4 human venous malformation 10.5 CCM2 KRIT1 PDCD10
5 brain angioma 10.4 KRIT1 SNRPB
6 klippel-trenaunay-weber syndrome 10.4 CCM2 KRIT1 PDCD10
7 cavernous hemangioma 10.4 CCM2 KRIT1 PDCD10
8 venous malformations, multiple cutaneous and mucosal 10.4 CCM2 KRIT1 PDCD10
9 cerebral angioma 10.4 KRIT1 SNRPB
10 neuropathy, hereditary sensory and autonomic, type v 10.2 NGF NTRK1
11 vascular hemostatic disease 10.2 CCM2 KRIT1 PDCD10 SNRPB
12 cell type benign neoplasm 10.2 CCM2 KRIT1 PDCD10 SNRPB
13 cerebritis 10.1
14 cerebral cavernous malformations 3 9.9 CCM2 KRIT1 MAP3K3 PDCD10 SNRPB
15 askin's tumor 9.9 NGF NTRK1
16 endotheliitis 9.8
17 prolactin producing pituitary tumor 9.7 NGF NTRK1
18 central nervous system hemangioma 9.6 CCM2 KRIT1 MAP3K3 PDCD10 RAP1A SNRPB

Graphical network of the top 20 diseases related to Cerebral Cavernous Malformations 2:



Diseases related to Cerebral Cavernous Malformations 2
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Symptoms & Phenotypes for Cerebral Cavernous Malformations 2

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Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin:
palmar telangiectasias (described in 1 family)

Neurologic Central Nervous System:
cerebral cavernous malformations
seizures
recurrent headaches
hemorrhagic stroke


Clinical features from OMIM:

603284

Human phenotypes related to Cerebral Cavernous Malformations 2:

32
# Description HPO Frequency HPO Source Accession
1 telangiectasia 32 HP:0001009
2 seizures 32 HP:0001250
3 stroke 32 HP:0001297
4 cerebral hemorrhage 32 HP:0001342
5 headache 32 HP:0002315

UMLS symptoms related to Cerebral Cavernous Malformations 2:


seizures, headache recurrent

GenomeRNAi Phenotypes related to Cerebral Cavernous Malformations 2 according to GeneCards Suite gene sharing:

26 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.57 MAP4K2 MAP2K3
2 Decreased viability GR00107-A-1 10.57 STK25
3 Decreased viability GR00173-A 10.57 MAP2K3
4 Decreased viability GR00221-A-1 10.57 MAP2K4 MAP3K3 MAP4K2 STK24
5 Decreased viability GR00221-A-2 10.57 MAP3K3 MAP4K2 NTRK3 STK24
6 Decreased viability GR00221-A-3 10.57 MAP2K6 MAP2K4 MAP4K2 MAP2K3 NTRK1
7 Decreased viability GR00221-A-4 10.57 MAP2K6 MAP2K4 MAP3K3 MAP4K2 NTRK3 STK24
8 Decreased viability GR00231-A 10.57 MAP2K4
9 Decreased viability GR00301-A 10.57 MAP2K4 STK25 NTRK1
10 Decreased viability GR00402-S-2 10.57 MAP2K6 MAP2K4 MAP3K3 MAP4K2 NTRK3 STK24
11 Increased cell viability after pRB stimulation GR00230-A-1 9.5 MAP2K3 MAP2K4 MAP2K6 MAP3K3 MAP4K2 NTRK1
12 Increased mitotic index GR00110-A-0 8.8 MAP2K4 MAP3K3 NTRK3

MGI Mouse Phenotypes related to Cerebral Cavernous Malformations 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 10.1 STK25 CCM2 CCM2L KRIT1 MAP2K3 MAP2K4
2 cardiovascular system MP:0005385 9.97 PDCD10 RAP1A CCM2 CCM2L KRIT1 MAP2K4
3 muscle MP:0005369 9.7 CCM2 CCM2L KRIT1 MAP3K3 NGF NTRK1
4 nervous system MP:0003631 9.7 CCM2 KRIT1 MAP2K4 NGF NTRK1 NTRK3
5 normal MP:0002873 9.28 CCM2 CCM2L MAP2K4 NGF NTRK1 NTRK3
Sources

Drugs & Therapeutics for Cerebral Cavernous Malformations 2

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Drugs for Cerebral Cavernous Malformations 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Diazepam Approved, Illicit, Investigational, Vet_approved Not Applicable 439-14-5 3016

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Implementing Health Plan-Level Care Management for Solo & Small Practices Completed NCT02041962 Not Applicable

Search NIH Clinical Center for Cerebral Cavernous Malformations 2

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Genetic Tests for Cerebral Cavernous Malformations 2

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Genetic tests related to Cerebral Cavernous Malformations 2:

# Genetic test Affiliating Genes
1 Cerebral Cavernous Malformations 2 29 CCM2
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Anatomical Context for Cerebral Cavernous Malformations 2

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MalaCards organs/tissues related to Cerebral Cavernous Malformations 2:

41
Brain, Endothelial
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Publications for Cerebral Cavernous Malformations 2

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Articles related to Cerebral Cavernous Malformations 2:

# Title Authors Year
1
Structural Insights into the Molecular Recognition between Cerebral Cavernous Malformation 2 and Mitogen-Activated Protein Kinase Kinase Kinase 3. ( 25982527 )
2015
2
Structural basis for the disruption of the cerebral cavernous malformations 2 (CCM2) interaction with Krev interaction trapped 1 (KRIT1) by disease-associated mutations. ( 25525273 )
2015
3
Structural studies of cerebral cavernous malformations 2 (CCM2) reveal a folded helical domain at its C-terminus. ( 23266514 )
2013
4
Cerebral cavernous malformation 2 protein promotes smad ubiquitin regulatory factor 1-mediated RhoA degradation in endothelial cells. ( 19318350 )
2009
Sources

Variations for Cerebral Cavernous Malformations 2

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UniProtKB/Swiss-Prot genetic disease variations for Cerebral Cavernous Malformations 2:

75
# Symbol AA change Variation ID SNP ID
1 CCM2 p.Leu198Arg VAR_023577 rs137852843
2 CCM2 p.Gln215His VAR_067352
3 CCM2 p.Leu229Gln VAR_067353

ClinVar genetic disease variations for Cerebral Cavernous Malformations 2:

6
(show top 50) (show all 52)
# Gene Variation Type Significance SNP ID Assembly Location
1 CCM2 CCM2, 1-BP DEL, 23G deletion Pathogenic
2 CCM2 NM_031443.3(CCM2): c.319C> T (p.Gln107Ter) single nucleotide variant Pathogenic rs137852841 GRCh37 Chromosome 7, 45104092: 45104092
3 CCM2 NM_031443.3(CCM2): c.319C> T (p.Gln107Ter) single nucleotide variant Pathogenic rs137852841 GRCh38 Chromosome 7, 45064493: 45064493
4 CCM2 CCM2, IVS5, G-A, -1 single nucleotide variant Pathogenic
5 CCM2 CCM2, 4-BP DEL, NT169 deletion Pathogenic
6 CCM2 NM_031443.3(CCM2): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs137852842 GRCh37 Chromosome 7, 45039933: 45039933
7 CCM2 NM_031443.3(CCM2): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs137852842 GRCh38 Chromosome 7, 45000334: 45000334
8 CCM2 CCM2, IVS3, G-A, +1 single nucleotide variant Pathogenic
9 CCM2 NM_001029835.2(CCM2): c.656T> G (p.Leu219Arg) single nucleotide variant Pathogenic rs137852843 GRCh37 Chromosome 7, 45108162: 45108162
10 CCM2 NM_001029835.2(CCM2): c.656T> G (p.Leu219Arg) single nucleotide variant Pathogenic rs137852843 GRCh38 Chromosome 7, 45068563: 45068563
11 CCM2 CCM2, 2-BP DEL, 1248AG deletion Pathogenic
12 CCM2 nsv513784 deletion Pathogenic
13 CCM2 CCM2, IVS1, GC-TT, +5 undetermined variant Pathogenic
14 CCM2 NM_031443.3(CCM2): c.30+5_30+6delGCinsTT indel Pathogenic rs797044623 GRCh37 Chromosome 7, 45039967: 45039968
15 CCM2 NM_031443.3(CCM2): c.30+5_30+6delGCinsTT indel Pathogenic rs797044623 GRCh38 Chromosome 7, 45000368: 45000369
16 CCM2 7p13 deletion (77.6 kb) deletion Pathogenic
17 CCM2 NM_031443.3(CCM2): c.157G> A (p.Val53Ile) single nucleotide variant Benign rs2107732 GRCh37 Chromosome 7, 45077978: 45077978
18 CCM2 NM_031443.3(CCM2): c.157G> A (p.Val53Ile) single nucleotide variant Benign rs2107732 GRCh38 Chromosome 7, 45038379: 45038379
19 CCM2 NM_031443.3(CCM2): c.358G> A (p.Val120Ile) single nucleotide variant Benign rs11552377 GRCh37 Chromosome 7, 45104131: 45104131
20 CCM2 NM_031443.3(CCM2): c.358G> A (p.Val120Ile) single nucleotide variant Benign rs11552377 GRCh38 Chromosome 7, 45064532: 45064532
21 CCM2 NM_031443.3(CCM2): c.915G> A (p.Thr305=) single nucleotide variant Benign rs2289367 GRCh37 Chromosome 7, 45113170: 45113170
22 CCM2 NM_031443.3(CCM2): c.915G> A (p.Thr305=) single nucleotide variant Benign rs2289367 GRCh38 Chromosome 7, 45073571: 45073571
23 CCM2 NM_001029835.2(CCM2): c.267+2040T> C single nucleotide variant not provided rs564132631 GRCh37 Chromosome 7, 45080065: 45080065
24 CCM2 NM_001029835.2(CCM2): c.267+2040T> C single nucleotide variant not provided rs564132631 GRCh38 Chromosome 7, 45040466: 45040466
25 CCM2 NM_031443.3(CCM2): c.205-11867_205-11864delTAAG deletion not provided rs547206569 GRCh37 Chromosome 7, 45091650: 45091653
26 CCM2 NM_031443.3(CCM2): c.205-11867_205-11864delTAAG deletion not provided rs547206569 GRCh38 Chromosome 7, 45052051: 45052054
27 CCM2 NM_001029835.2(CCM2): c.351+179G> C single nucleotide variant not provided rs137874552 GRCh37 Chromosome 7, 45103779: 45103779
28 CCM2 NM_001029835.2(CCM2): c.351+179G> C single nucleotide variant not provided rs137874552 GRCh38 Chromosome 7, 45064180: 45064180
29 CCM2 NM_031443.3(CCM2): c.31-18122A> T single nucleotide variant not provided rs182880220 GRCh37 Chromosome 7, 45059730: 45059730
30 CCM2 NM_031443.3(CCM2): c.31-18122A> T single nucleotide variant not provided rs182880220 GRCh38 Chromosome 7, 45020131: 45020131
31 CCM2 NM_031443.3(CCM2): c.31-14922C> T single nucleotide variant not provided rs776682467 GRCh37 Chromosome 7, 45062930: 45062930
32 CCM2 NM_031443.3(CCM2): c.31-14922C> T single nucleotide variant not provided rs776682467 GRCh38 Chromosome 7, 45023331: 45023331
33 CCM2 NM_031443.3(CCM2): c.30+2639G> A single nucleotide variant not provided rs181735976 GRCh37 Chromosome 7, 45042601: 45042601
34 CCM2 NM_031443.3(CCM2): c.30+2639G> A single nucleotide variant not provided rs181735976 GRCh38 Chromosome 7, 45003002: 45003002
35 CCM2 NM_031443.3(CCM2): c.-613A> G single nucleotide variant not provided GRCh37 Chromosome 7, 45039320: 45039320
36 CCM2 NM_031443.3(CCM2): c.-613A> G single nucleotide variant not provided GRCh38 Chromosome 7, 44999721: 44999721
37 CCM2 NM_031443.3(CCM2): c.30+4465C> T single nucleotide variant not provided GRCh37 Chromosome 7, 45044427: 45044427
38 CCM2 NM_031443.3(CCM2): c.30+4465C> T single nucleotide variant not provided GRCh38 Chromosome 7, 45004828: 45004828
39 CCM2 NM_031443.3(CCM2): c.55C> T (p.Arg19Ter) single nucleotide variant Pathogenic rs755800734 GRCh37 Chromosome 7, 45077876: 45077876
40 CCM2 NM_031443.3(CCM2): c.55C> T (p.Arg19Ter) single nucleotide variant Pathogenic rs755800734 GRCh38 Chromosome 7, 45038277: 45038277
41 CCM2 NM_031443.3(CCM2): c.42_43insATTTAAACGAGTATTTAAA (p.Ser15Ilefs) insertion Pathogenic GRCh37 Chromosome 7, 45077863: 45077864
42 CCM2 NM_031443.3(CCM2): c.42_43insATTTAAACGAGTATTTAAA (p.Ser15Ilefs) insertion Pathogenic GRCh38 Chromosome 7, 45038264: 45038265
43 CCM2 NM_031443.3(CCM2): c.612C> T (p.Val204=) single nucleotide variant Likely benign rs181474100 GRCh38 Chromosome 7, 45069828: 45069828
44 CCM2 NM_031443.3(CCM2): c.612C> T (p.Val204=) single nucleotide variant Likely benign rs181474100 GRCh37 Chromosome 7, 45109427: 45109427
45 CCM2 NC_000007.14: g.(?_45038253)_(45076470_?)del deletion Pathogenic GRCh37 Chromosome 7, 45077852: 45116069
46 CCM2 NC_000007.14: g.(?_45038253)_(45076470_?)del deletion Pathogenic GRCh38 Chromosome 7, 45038253: 45076470
47 CCM2 NM_031443.3(CCM2): c.31-2A> G single nucleotide variant Likely pathogenic GRCh38 Chromosome 7, 45038251: 45038251
48 CCM2 NM_031443.3(CCM2): c.31-2A> G single nucleotide variant Likely pathogenic GRCh37 Chromosome 7, 45077850: 45077850
49 CCM2 NM_031443.3(CCM2): c.635T> C (p.Leu212Pro) single nucleotide variant Likely pathogenic GRCh37 Chromosome 7, 45109450: 45109450
50 CCM2 NM_031443.3(CCM2): c.635T> C (p.Leu212Pro) single nucleotide variant Likely pathogenic GRCh38 Chromosome 7, 45069851: 45069851
Sources

Expression for Cerebral Cavernous Malformations 2

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Search GEO for disease gene expression data for Cerebral Cavernous Malformations 2.
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Pathways for Cerebral Cavernous Malformations 2

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Pathways related to Cerebral Cavernous Malformations 2 according to GeneCards Suite gene sharing:

(show top 50) (show all 62)
# Super pathways Score Top Affiliating Genes
1
GPCR Pathway 64
Show member pathways
 13.73 MAP2K3 MAP2K4 MAP2K6 MAP3K3 NGF NTRK1
2
TGF-Beta Pathway 64
Show member pathways
 13.46 MAP2K3 MAP2K4 MAP2K6 MAP3K3 MAP4K2 NGF
3
Akt Signaling 64
Show member pathways
 13.41 MAP2K3 MAP2K6 MAP3K3 NGF NTRK1 NTRK3
4
PAK Pathway 64
Show member pathways
 13.3 MAP2K4 MAP3K3 NGF NTRK1 NTRK3 RAP1A
5
CREB Pathway 64
Show member pathways
 13.29 MAP2K3 MAP2K4 MAP2K6 NGF NTRK1 NTRK3
6
p70S6K Signaling 64
Show member pathways
 13.02 MAP2K3 MAP2K4 MAP2K6 NGF NTRK1 NTRK3
7
Development Angiotensin activation of ERK 22
Show member pathways
 12.93 MAP2K3 MAP2K4 MAP2K6 MAP3K3 NGF RAP1A
8
Sertoli-Sertoli Cell Junction Dynamics 64
Show member pathways
 12.92 MAP2K3 MAP2K4 MAP2K6 MAP3K3 RHOA SMURF1
9
TCR Signaling (Qiagen) 64
Show member pathways
 12.9 MAP2K3 MAP2K4 MAP2K6 MAP3K3 RHOA
10
Focal Adhesion 37 1
Show member pathways
 12.89 MAP2K3 MAP2K4 MAP2K6 MAP3K3 RAP1A RHOA
11
TNFR1 Pathway 64
Show member pathways
 12.86 MAP2K3 MAP2K4 MAP2K6 MAP3K3 MAP4K2 NGF
12
MAPK-Erk Pathway 67
Show member pathways
 12.83 MAP2K3 MAP2K4 MAP2K6 MAP3K3 RAP1A RHOA
13
Apoptosis Modulation and Signaling 1
Show member pathways
 12.81 MAP2K3 MAP2K4 MAP3K3 NGF NTRK1
14
IL-2 Pathway 64
Show member pathways
 12.79 MAP2K3 MAP2K4 MAP2K6 MAP3K3 RHOA
15
Ras signaling pathway 37
Show member pathways
 12.66 KRIT1 MAP2K3 MAP2K6 NGF NTRK1 RAP1A
16
NFAT and Cardiac Hypertrophy 64
Show member pathways
 12.66 MAP2K3 MAP2K4 MAP2K6 MAP3K3 NTRK1 NTRK3
17
Development HGF signaling pathway 22
Show member pathways
 12.61 MAP2K4 MAP3K3 NGF NTRK1 NTRK3 RAP1A
18
Angiopoietin Like Protein 8 Regulatory Pathway 1
Show member pathways
 12.52 MAP2K3 MAP2K4 MAP2K6 MAP3K3 MAP4K2
19
TRAF Pathway 64
Show member pathways
 12.48 MAP2K3 MAP2K4 MAP2K6 MAP4K2 NGF
20
Development FGFR signaling pathway 22
Show member pathways
 12.43 MAP2K3 MAP2K4 MAP2K6 MAP3K3
21
MAPK signaling pathway 1 37
12.43 MAP2K3 MAP2K4 MAP2K6 MAP3K3 MAP4K2 NGF
22
VEGF Pathway (Qiagen) 64
Show member pathways
 12.42 MAP2K3 MAP2K4 MAP2K6 MAP3K3 RHOA
23
RANK Signaling in Osteoclasts 64
Show member pathways
 12.42 MAP2K3 MAP2K4 MAP2K6 MAP3K3 RAP1A
24
IL-1 signaling pathway 1
Show member pathways
 12.3 MAP2K3 MAP2K4 MAP2K6 MAP3K3
25
B Cell Receptor Signaling Pathway (sino) 67
Show member pathways
 12.3 MAP2K3 MAP2K4 MAP2K6 MAP3K3 RAP1A
26
VEGF Signaling Pathway 67 61
Show member pathways
 12.23 MAP2K3 MAP2K4 MAP2K6 SMURF1
27
G-protein signaling Ras family GTPases in kinase cascades (scheme) 22
Show member pathways
 12.22 MAP2K3 MAP2K4 MAP2K6 MAP3K3
28
MicroRNAs in cardiomyocyte hypertrophy 1
Show member pathways
 12.17 MAP2K3 MAP2K4 MAP2K6 RHOA
29
Development Endothelin-1/EDNRA signaling 22
Show member pathways
 12.14 MAP2K3 MAP2K4 MAP2K6 MAP3K3 NGF NTRK1
30
Immune response Function of MEF2 in T lymphocytes 22
Show member pathways
 12.13 MAP2K4 MAP2K6 MAP3K3 MAP4K2
31
Brain-Derived Neurotrophic Factor (BDNF) signaling pathway 1
12.11 NGF NTRK1 NTRK3 RAP1A
32
Immune response IFN gamma signaling pathway 22
Show member pathways
 12.05 MAP2K3 MAP2K4 MAP2K6 NGF RAP1A RHOA
33
G12-G13 in Cellular Signaling 64
12.03 MAP2K3 MAP2K4 MAP2K6 RHOA
34
TGF-beta Signaling Pathway (WikiPathways) 1
12.03 MAP2K3 MAP2K4 MAP2K6 RHOA SMURF1
35
GDNF-Family Ligands and Receptor Interactions 64
Show member pathways
 12.02 MAP2K3 MAP2K4 MAP2K6 MAP3K3
36
Development A2A receptor signaling 22
Show member pathways
 12 MAP2K3 MAP2K6 RAP1A
37
Ceramide Pathway 64
Show member pathways
 11.99 MAP2K3 MAP2K4 MAP2K6
38
Guidance Cues and Growth Cone Motility 64
11.99 NGF NTRK1 NTRK3 RHOA
39
Glioblastoma Multiforme 64
11.96 MAP2K3 MAP2K4 MAP2K6 RHOA
40
IL12-mediated signaling events 1
Show member pathways
 11.95 MAP2K3 MAP2K4 MAP2K6
41
TNF signaling pathway 37
11.93 MAP2K3 MAP2K4 MAP2K6
42
NGF Pathway 64
Show member pathways
 11.92 MAP2K4 MAP3K3 NGF NTRK1 RAP1A RHOA
43
MAP Kinase Signaling 4
11.91 MAP2K3 MAP2K4 MAP2K6 MAP3K3 MAP4K2
44
Uptake and actions of bacterial toxins 66
Show member pathways
 11.78 MAP2K3 MAP2K4 MAP2K6
45
TGF-beta Signaling Pathways 65
11.78 MAP2K3 MAP2K4 MAP2K6 RHOA SMURF1
46
Development_TGF-beta receptor signaling 22
11.74 MAP2K3 MAP2K6 SMURF1
47
Human Thyroid Stimulating Hormone (TSH) signaling pathway 1
11.71 MAP2K3 MAP2K6 RAP1A
48
Non-Canonical Wnt Pathway 67
11.64 MAP2K3 MAP2K6 RHOA
49
P38 MAPK Signaling Pathway (sino) 67
11.63 MAP2K3 MAP2K4 MAP2K6 MAP3K3
50
Neurotrophic factor-mediated Trk receptor signaling 1
Show member pathways
 11.61 NGF NTRK1 NTRK3 RHOA
Sources

GO Terms for Cerebral Cavernous Malformations 2

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Cellular components related to Cerebral Cavernous Malformations 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.86 CCM2 KRIT1 MAP2K3 MAP2K4 MAP2K6 MAP3K3
2 axon GO:0030424 9.1 MAP2K4 NGF NTRK1 NTRK3 RHOA SMURF1

Biological processes related to Cerebral Cavernous Malformations 2 according to GeneCards Suite gene sharing:

(show all 35)
# Name GO ID Score Top Affiliating Genes
1 protein phosphorylation GO:0006468 9.97 MAP2K3 MAP2K4 MAP2K6 MAP3K3 MAP4K2 NTRK1
2 MAPK cascade GO:0000165 9.96 MAP2K6 MAP3K3 MAP4K2 STK24 STK25
3 regulation of apoptotic process GO:0042981 9.95 MAP2K3 MAP2K4 MAP2K6 MAP3K3 MAP4K2 STK24
4 positive regulation of protein phosphorylation GO:0001934 9.92 MAP2K4 MAP2K6 NTRK1 NTRK3
5 protein autophosphorylation GO:0046777 9.91 MAP3K3 NTRK1 NTRK3 STK24 STK25
6 peptidyl-tyrosine phosphorylation GO:0018108 9.89 MAP2K3 MAP2K4 MAP2K6 NTRK1 NTRK3
7 activation of MAPK activity GO:0000187 9.87 MAP2K3 MAP2K4 MAP2K6 NTRK3
8 small GTPase mediated signal transduction GO:0007264 9.83 KRIT1 RAP1A RHOA
9 neuron projection morphogenesis GO:0048812 9.83 NGF RHOA STK24 STK25
10 ephrin receptor signaling pathway GO:0048013 9.81 NTRK1 NTRK3 RHOA
11 response to hydrogen peroxide GO:0042542 9.8 PDCD10 STK24 STK25
12 regulation of mitotic cell cycle GO:0007346 9.8 MAP2K3 MAP2K4 MAP2K6 MAP3K3 MAP4K2 STK24
13 phosphatidylinositol-mediated signaling GO:0048015 9.79 NGF NTRK1 RHOA
14 cellular response to nerve growth factor stimulus GO:1990090 9.77 NTRK1 NTRK3 RAP1A
15 activation of MAPKK activity GO:0000186 9.76 MAP3K3 NGF NTRK1 RAP1A
16 positive regulation of axonogenesis GO:0050772 9.75 NGF RHOA STK25
17 activation of MAPKKK activity GO:0000185 9.71 MAP4K2 STK24 STK25
18 activation of protein kinase activity GO:0032147 9.7 MAP2K3 MAP2K4 MAP2K6 MAP3K3 MAP4K2 STK24
19 positive regulation of Ras protein signal transduction GO:0046579 9.67 NGF NTRK1
20 positive regulation of stress-activated MAPK cascade GO:0032874 9.66 PDCD10 STK25
21 neurotrophin TRK receptor signaling pathway GO:0048011 9.65 NGF NTRK1
22 wound healing, spreading of cells GO:0044319 9.65 PDCD10 RHOA
23 stress fiber assembly GO:0043149 9.65 PDCD10 RHOA
24 nerve growth factor signaling pathway GO:0038180 9.65 NGF NTRK1 RAP1A
25 positive regulation of nitric-oxide synthase biosynthetic process GO:0051770 9.64 MAP2K4 MAP2K6
26 establishment of Golgi localization GO:0051683 9.63 PDCD10 STK25
27 mechanoreceptor differentiation GO:0042490 9.62 NTRK1 NTRK3
28 Golgi reassembly GO:0090168 9.61 PDCD10 STK25
29 proteolysis in other organism GO:0035897 9.61 MAP2K3 MAP2K4 MAP2K6
30 cellular response to sorbitol GO:0072709 9.59 MAP2K4 MAP2K6
31 neurotrophin signaling pathway GO:0038179 9.58 NTRK1 NTRK3
32 intrinsic apoptotic signaling pathway in response to hydrogen peroxide GO:0036481 9.55 PDCD10 STK25
33 signal transduction by protein phosphorylation GO:0023014 9.5 MAP2K3 MAP2K4 MAP2K6 MAP3K3 MAP4K2 STK24
34 stress-activated protein kinase signaling cascade GO:0031098 9.23 MAP2K3 MAP2K4 MAP2K6 MAP3K3 MAP4K2 RHOA
35 phosphorylation GO:0016310 10.02 MAP2K3 MAP2K4 MAP2K6 MAP3K3 MAP4K2 NTRK1

Molecular functions related to Cerebral Cavernous Malformations 2 according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 protein serine/threonine kinase activity GO:0004674 9.8 MAP2K3 MAP2K4 MAP2K6 MAP3K3 MAP4K2 STK24
2 protein tyrosine kinase activity GO:0004713 9.77 MAP2K3 MAP2K4 MAP2K6 NTRK1 NTRK3
3 MAP kinase kinase kinase activity GO:0004709 9.71 MAP3K3 NTRK1 NTRK3
4 nucleotide binding GO:0000166 9.7 MAP2K3 MAP2K4 MAP2K6 MAP3K3 MAP4K2 STK24
5 MAP kinase kinase activity GO:0004708 9.61 MAP2K3 MAP2K4 MAP2K6
6 kinase activity GO:0016301 9.61 MAP2K3 MAP2K4 MAP2K6 MAP3K3 MAP4K2 NTRK1
7 mitogen-activated protein kinase kinase kinase binding GO:0031435 9.55 MAP2K4 MAP4K2
8 GPI-linked ephrin receptor activity GO:0005004 9.51 NTRK1 NTRK3
9 MAP kinase kinase kinase kinase activity GO:0008349 9.5 MAP4K2 STK24 STK25
10 neurotrophin binding GO:0043121 9.49 NTRK1 NTRK3
11 neurotrophin receptor activity GO:0005030 9.48 NTRK1 NTRK3
12 protein kinase activity GO:0004672 9.28 MAP2K3 MAP2K4 MAP2K6 MAP3K3 MAP4K2 NTRK1
13 protein binding GO:0005515 10.45 CCM2 KRIT1 MAP2K3 MAP2K4 MAP2K6 MAP3K3
14 ATP binding GO:0005524 10.11 MAP2K3 MAP2K4 MAP2K6 MAP3K3 MAP4K2 NTRK1
15 transferase activity GO:0016740 10.1 MAP2K3 MAP2K4 MAP2K6 MAP3K3 MAP4K2 NTRK1
Sources

Sources for Cerebral Cavernous Malformations 2

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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