HCHWA
MCID: CRB019
MIFTS: 68

Cerebral Amyloid Angiopathy (HCHWA) malady

Cardiovascular diseases, Neuronal diseases, Bone diseases categories

Summaries for Cerebral Amyloid Angiopathy

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63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 Cerebral amyloid angiopathy (CAA), also known as congophilic angiopathy, is a form of angiopathy in... more...

MalaCards: Cerebral Amyloid Angiopathy, also known as hereditary cerebral hemorrhage with amyloidosis, icelandic type, is related to alzheimer's disease and dementia, and has symptoms including early death in adulthood, autosomal dominant inheritance and intracranial/cerebral/meningeal hemorrhage. An important gene associated with Cerebral Amyloid Angiopathy is CST3 (cystatin C), and among its related pathways are Visual phototransduction and Reelin Pathway (Cajal-Retzius cells). The compounds thioflavine s and vitamin a have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and smooth muscle, and related mouse phenotypes are other and muscle.

Description from OMIM:46 605714,105150

Aliases & Classifications for Cerebral Amyloid Angiopathy

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8Disease Ontology, 9diseasecard, 46OMIM, 10DISEASES, 44Novoseek, 60UMLS, 48Orphanet, 34MeSH, 56SNOMED-CT, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet, 25ICD10
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Classifications:



Characteristics (Orphanet epidemiological data):

48
hereditary cerebral hemorrhage with amyloidosis:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Adulthood; Age of death: Adult
hereditary cerebral hemorrhage with amyloidosis, icelandic type:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Adolescence / Young adulthood


Aliases & Descriptions:

cerebral amyloid angiopathy 8 9 46 10 44 60
hereditary cerebral hemorrhage with amyloidosis, icelandic type 48
hereditary cerebral haemorrhage with amyloidosis - dutch type 8
hereditary cerebral hemorrhage with amyloidosis 48
dutch hereditary cerebral amyloid angiopathy 8
hereditary cystatin c amyloid angiopathy 48
cerebral amyloid angiopathy, hereditary 60
hchwa, icelandic type 48
hchwa 48


External Ids:

Disease Ontology8 DOID:9246
MeSH34 D028243
SNOMED-CT56 56453003
SNOMED-CT via Orphanet57 45639009
ICD10 via Orphanet26 E85.4+, I68.0*
ICD1025 I68.0

Related Diseases for Cerebral Amyloid Angiopathy

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Cerebral Amyloid Angiopathy family:

Cerebral Amyloid Angiopathy, Prnp-Related

Diseases related to Cerebral Amyloid Angiopathy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 134)
idRelated DiseaseScoreTop Affiliating Genes
1alzheimer's disease31.6LRP1, MME, MAPT, PON1, CH25H, PRNP
2dementia31.4SERPINA3, LRP1, MAPT, PON1, PRNP, ITM2B
3hereditary cerebral amyloid angiopathy31.1APP
4cerebrovascular disease30.9CST3, APP, APOE, PON1, SERPINA3
5brain disease30.9APP, PSEN1, PRNP, MAPT, SERPINA3
6vascular disease30.9CST3, APOE, PSEN1, AOC3, PON1, LRP1
7amyloidosis30.9TTR, LRP1, MME, MAPT, PRNP, ITM2B
8vascular dementia30.8APOE
9hypertension30.8MME, APOE, CST3
10arteriosclerosis30.6PON1
11polyneuropathy30.6TUBB, TTR
12atherosclerosis30.5CST3, APOE, AOC3, PRNP, PON1, LRP1
13dementia familial british30.3TUBB, APP, ITM2B
14lewy body dementia30.3MAPT, APOE
15progressive supranuclear palsy30.3APP, APOE, PRNP, MAPT
16central nervous system disease30.3APP, MAPT, TTR
17prion disease30.3MAPT, PRNP, PSEN1, APP, CST3
18obesity30.3ABCA1, LRP1, PON1, AOC3, APOE
19ischemia30.3HSPB6, CST3, PSEN1, PON1, MAPT, MME
20motor neuron disease30.3MAPT
21breast cancer30.3TUBB, CST3, PON1, MAPT, MME, LRP1
22cadasil30.3CST3, APOE, PSEN1, AOC3, PRNP, PON1
23amyloid tumor30.3SERPINA3, TTR, ABCA1, LRP1, MME, MAPT
24cerebritis11.6
25siderosis10.7
26neuronitis10.5
27capillary disease10.5
28cerebral amyloid angiopathy, dutch, italian, iowa, flemish, arctic variants10.5
29granulomatous angiitis10.4
30vasculitis10.4
31amyloidosis cerebral10.4
32cerebral atherosclerosis10.4
33hemosiderosis10.4
34autosomal dominant disease10.4
35cerebral degeneration10.4
36meningitis10.4
37cerebral amyloid angiopathy, prnp-related10.4
38pancreatitis10.3
39moyamoya disease10.2
40choroiditis10.2
41cerebral arteritis10.2
42adult syndrome10.2
43central nervous system vasculitis10.2
44cerebellar disease10.2
45cerebral arterial disease10.2
46cerebral palsy10.2
47collagen disease10.2
48hemorrhagic disease10.2
49migraine10.2
50nervous system disease10.2

Graphical network of the top 20 diseases related to Cerebral Amyloid Angiopathy:



Diseases related to cerebral amyloid angiopathy

Clinical Features for Cerebral Amyloid Angiopathy

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

605714,105150

Clinical synopsis from OMIM:

105150

Symptoms:

48
  • early death in adulthood
  • autosomal dominant inheritance
  • intracranial/cerebral/meningeal hemorrhage
  • transient cerebral ischemia/stroke
  • cerebral vascular anomalies

Drugs & Therapeutics for Cerebral Amyloid Angiopathy

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Cerebral Amyloid Angiopathy

Drug clinical trials:

Search ClinicalTrials for Cerebral Amyloid Angiopathy

Search NIH Clinical Center for Cerebral Amyloid Angiopathy

Search CenterWatch for Cerebral Amyloid Angiopathy

Genetic Tests for Cerebral Amyloid Angiopathy

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Anatomical Context for Cerebral Amyloid Angiopathy

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32MalaCards
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MalaCards organs/tissues related to Cerebral Amyloid Angiopathy:

32
Brain, Cortex, Smooth muscle, Bone, Endothelial, Breast, Liver, Spinal cord, Pons

Animal Models for Cerebral Amyloid Angiopathy or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Cerebral Amyloid Angiopathy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000539510.0ABCA1, APP, APOE, PSEN1, PRNP, MAPT
2MP:00053699.8CST3, APP, APOE, PSEN1, PRNP, MAPT
3MP:00030129.8IFNAR1, APP, APOE, ITM2B, PRNP, MAPT
4MP:00036319.7APP, APOE, PSEN1, ITM2B, PRNP, MAPT
5MP:00053879.6IFNAR1, APP, APOE, PSEN1, AOC3, PRNP
6MP:00053769.5PSEN1, APOE, APP, CST3, IFNAR1, PRNP
7MP:00053859.5IFNAR1, CST3, APOE, PSEN1, PON1, LRP1

Publications for Cerebral Amyloid Angiopathy

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Sources:
50PubMed
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Articles related to Cerebral Amyloid Angiopathy:

(show top 50)    (show all 507)
idTitleAuthorsYear
1
Patterns of cerebral amyloid angiopathy define histopathological phenotypes in Alzheimer's disease. (23808763)
2014
2
Recurrent stereotyped episodes in cerebral amyloid angiopathy: response to migraine prophylaxis in two patients. (23741226)
2013
3
Tumefactive cerebral amyloid angiopathy mimicking CNS neoplasm. (23255741)
2013
4
Cerebral Amyloid Angiopathy in an Aged Sooty Mangabey (Cercocebus atys). (24326228)
2013
5
A physiologic biomarker for cerebral amyloid angiopathy. (24097811)
2013
6
Anti-amyloid I^ autoantibodies in cerebral amyloid angiopathy-related inflammation: Implications for Amyloid-Modifying Therapies. (23625526)
2013
7
Cerebral amyloid angiopathy and transient focal neurological episodes. (24135538)
2013
8
A Unique Case Report of Cerebral Amyloid Angiopathy with Literature Review. (24361381)
2013
9
Advances in our Understanding of the Pathophysiology, Detection and Management of Cerebral Amyloid Angiopathy. (24058380)
2012
10
Interest of CSF biomarker analysis in possible cerebral amyloid angiopathy cases defined by the modified Boston criteria. (22576334)
2012
11
TOMM40 in Cerebral Amyloid Angiopathy Related Intracerebral Hemorrhage: Comparative Genetic Analysis with Alzheimer's Disease. (24323865)
2012
12
Cerebral amyloid angiopathy impact on endothelium. (22944481)
2012
13
The hemorrhage caused by sporadic-type cerebral amyloid angiopathy occurs primarily in the cerebral sulci. (21535227)
2012
14
Therapeutic modulation of cerebral microhemorrhage in a mouse model of cerebral amyloid angiopathy. (21903962)
2011
15
Brain abscess associated with cerebral amyloid angiopathy and hemorrhage. (21739391)
2011
16
Cerebral amyloid angiopathy-related inflammation: an emerging disease. (24059616)
2011
17
Cerebral amyloid angiopathy-related microhemorrhages in Alzheimer's disease: a review of investigative animal models. (21725725)
2011
18
Cerebral amyloid angiopathy: A clinicopathological study of three cases. (21085537)
2010
19
Apolipoprotein E (APOE) gene polymorphism and risk and prognosis in cerebral amyloid angiopathy-related haemorrhage]. (21225522)
2010
20
Hypoperfusion and ischemia in cerebral amyloid angiopathy documented by 99mTc-ECD brain perfusion SPECT. (19910418)
2009
21
ABCG2 is upregulated in Alzheimer's brain with cerebral amyloid angiopathy and may act as a gatekeeper at the blood-brain barrier for Abeta(1-40) peptides. (19403814)
2009
22
Perivascular drainage of amyloid-beta peptides from the brain and its failure in cerebral amyloid angiopathy and Alzheimer's disease. (18363936)
2008
23
Cerebral amyloid angiopathy--a disease or age-related condition. (17180835)
2006
24
Progression of cerebral amyloid angiopathy in transgenic mouse models of Alzheimer disease. (16042310)
2005
25
Cerebral amyloid angiopathy: both viper and maggot in the brain. (16130089)
2005
26
Cerebral amyloid angiopathy causing non-haemorrhagic mass effect. (15740527)
2005
27
Relationship of neurofibrillary pathology to cerebral amyloid angiopathy in Alzheimer's disease. (16008825)
2005
28
Exacerbation of cerebral amyloid angiopathy-associated microhemorrhage in amyloid precursor protein transgenic mice by immunotherapy is dependent on antibody recognition of deposited forms of amyloid beta. (15659599)
2005
29
Cerebral amyloid angiopathy in a 95+ cohort: complement activation and apolipoprotein E (ApoE) genotype. (16281907)
2005
30
Human apolipoprotein E4 alters the amyloid-beta 40:42 ratio and promotes the formation of cerebral amyloid angiopathy in an amyloid precursor protein transgenic model. (15772340)
2005
31
Contribution of cerebral amyloid angiopathy to Alzheimer's disease. (14707293)
2004
32
Cerebral amyloid angiopathy: major contributor or decorative response to Alzheimer's disease pathogenesis. (15172735)
2004
33
Severe cerebral amyloid angiopathy characterizes an underestimated variant of vascular dementia. (15211067)
2004
34
Abeta species, including IsoAsp23 Abeta, in Iowa-type familial cerebral amyloid angiopathy. (12557012)
2003
35
Recurrent nonhemorrhagic mass lesion due to cerebral amyloid angiopathy. (12622092)
2003
36
Cerebral amyloid angiopathy and vessel dysfunction. (11901242)
2002
37
Outcome markers for clinical trials in cerebral amyloid angiopathy. (11676292)
2001
38
Glycosaminoglycan mimetics: a therapeutic approach to cerebral amyloid angiopathy. (11676287)
2001
39
Gelsolin-related spinal and cerebral amyloid angiopathy. (10072044)
1999
40
Intracerebral hemorrhage caused by cerebral amyloid angiopathy: a case report. (10063714)
1999
41
Cerebral amyloid angiopathy with dementia: clinicopathological studies of 17 cases. (11593557)
1999
42
Possible link between lipid metabolism and cerebral amyloid angiopathy in Alzheimer's disease: A role for high-density lipoproteins? (10420065)
1998
43
beta-Amyloid precursor protein gene in squirrel monkeys with cerebral amyloid angiopathy. (8532114)
1995
44
Amyloid beta/A4 peptide associated with Alzheimer's disease and cerebral amyloid angiopathy. (8204971)
1993
45
Morphological evaluation of amyloid-laden arteries in leptomeninges, cortices and subcortices in cerebral amyloid angiopathy with subcortical hemorrhage. (8310790)
1993
46
Cerebral amyloid angiopathy with granulomatous angiitis ameliorated by steroid-cytoxan treatment. (1394245)
1992
47
Progressive dementia, without cerebral hemorrhage, in a patient with hereditary cerebral amyloid angiopathy. (1335860)
1992
48
Cerebral amyloid angiopathy and spontaneous intracerebral haemorrhage. Report of a sporadic case in a young Chinese. (1652394)
1991
49
Sporadic cerebral amyloid angiopathy with giant cell reaction. (2085098)
1990
50
Cerebral amyloid angiopathy as a cause of subarachnoid hemorrhage. (2309274)
1990

Genetic Variations for Cerebral Amyloid Angiopathy

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Cerebral Amyloid Angiopathy:

62
id Symbol AA change Variation ID SNP ID
1CST3p.Leu94GlnVAR_002207rs28939068

Expression for genes affiliated with Cerebral Amyloid Angiopathy

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Cerebral Amyloid Angiopathy

Search GEO for disease gene expression data for Cerebral Amyloid Angiopathy.

Pathways for genes affiliated with Cerebral Amyloid Angiopathy

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Sources:
53Reactome, 51QIAGEN, 49PharmGKB, 37NCBI BioSystems Database, 52R&D Systems, 4Cell Signaling Technology, 29KEGG
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Compounds for genes affiliated with Cerebral Amyloid Angiopathy

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44Novoseek, 11DrugBank, 24HMDB, 28IUPHAR, 59Tocris Bioscience, 49PharmGKB
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Compounds related to Cerebral Amyloid Angiopathy according to GeneCards/GeneDecks:

(show top 50)    (show all 103)
idCompoundScoreTop Affiliating Genes
1thioflavine s4410.6MAPT, APOE, APP
2vitamin a44 11 2412.6PON1, SERPINA3, CST3, MME
324s-hydroxy-cholesterol4410.6APP, ABCA1, APOE
4thioflavin t4410.5APOE, APP, TTR
5cholesterol ester4410.5ABCA1, PON1, APOE, LRP1
6formate4410.5APOE, MAPT, APP, TUBB, PRNP
7cyclosporin a44 28 5912.4ABCA1, CST3, APP, MME, TTR
8tacrine44 1111.4MAPT, APP, APOE
9guanidine44 11 2412.4APOE, TTR, MAPT, PRNP
10superoxide44 2411.4PSEN1, PRNP, SERPINA3, CST3, MME
11lactacystin4410.4APOE, ABCA1, MAPT, PSEN1, APP
12dopamine44 28 11 2413.4AOC3, MME, TTR, APP, SERPINA3
13homocysteine44 2411.4PON1, CST3, APOE, TTR, PSEN1
144-hydroxynonenal44 2411.4APOE, PON1, APP, MME, MAPT, PSEN1
15donepezil44 11 2412.4APP, APOE, MAPT
16glucose4410.4SERPINA3, LRP1, ABCA1, MAPT, CST3, PSEN1
17heparin44 28 11 2413.3APP, MAPT, SERPINA3, PRNP, PON1
18vitamin b124410.3SERPINA3, TTR, MAPT, CST3, APOE, PSEN1
19serine4410.3SERPINA3, MAPT, PRNP, PSEN1, APP, IFNAR1
20urea44 11 2412.3MAPT, TTR, TUBB, SERPINA3, CST3
21sodium dodecylsulfate4410.3APP, PRNP, MAPT, LRP1, TTR, TUBB
22formaldehyde44 2411.3AOC3, APP, TUBB, PRNP, MAPT
23folate4410.3PON1, MAPT, PSEN1, TTR, APOE, APP
24betacarotene4410.3PON1, TTR, APOE, SERPINA3
25paraffin4410.3APOE, PRNP, TUBB, SERPINA3, MAPT, TTR
26acetylcholine44 49 28 11 2414.3APOE, PON1, MAPT, APP, MME, SERPINA3
27valine4410.2APOE, TUBB, APP, PSEN1, PRNP, MAPT
28dexamethasone44 49 28 1113.2APP, MME, ABCA1
29guanidine hydrochloride4410.2PRNP, TTR, SERPINA3, APOE
30aspartate4410.2TTR, PSEN1, LRP1, MAPT, CST3, APP
31glutamine4410.2TUBB, APOE, PSEN1, PON1, APP, MAPT
32lysine4410.2ABCA1, AOC3, PSEN1, TUBB, PRNP, LRP1
33testosterone44 59 11 2413.2APOE, PON1, MAPT, TUBB, MME, ABCA1
34leucine4410.1MME, LRP1, TTR, PON1, PRNP, AOC3
35oxygen44 2411.1SERPINA3, ABCA1, CH25H, PRNP, AOC3, PSEN1
36glutamate4410.1TTR, APOE, APP, TUBB, PSEN1, ABCA1
37h2o24410.1APP, AOC3, PSEN1, PON1, TUBB, MME
38arginine4410.1APOE, APP, PSEN1, MAPT, PON1, MME
39creatinine4410.1MAPT, AOC3, APOE, APP, CST3, TUBB
40methionine4410.0CST3, MAPT, MME, ABCA1, TTR, SERPINA3
41threonine4410.0TTR, ABCA1, SERPINA3, PRNP, AOC3, PSEN1
42alanine4410.0PSEN1, PON1, PRNP, TTR, SERPINA3, TUBB
43cysteine4410.0TTR, LRP1, MME, MAPT, PON1, PSEN1
44retinoic acid44 2411.0PSEN1, LRP1, TTR, MME, ABCA1, SERPINA3
45hydrogen44 2410.9TUBB, AOC3, MME, PRNP, CST3, PSEN1
46lipid449.9LRP1, SERPINA3, APOE, ABCA1, TUBB, CST3
47cholesterol44 28 11 2412.9PON1, PRNP, AOC3, PSEN1, CH25H, APP
48iron44 2410.9PRNP, CH25H, APP, CST3, TTR, SERPINA3
49aspirin44 49 28 2412.8PON1, APP, APOE, ABCA1, TTR
50calcium44 49 11 2412.8TUBB, CST3, LRP1, MME, HSPB6, ABCA1

GO Terms for genes affiliated with Cerebral Amyloid Angiopathy

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16Gene Ontology
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Cellular components related to Cerebral Amyloid Angiopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1axonGO:03042410.2APP, PSEN1, MAPT, MME
2ciliary rootletGO:03525310.0PSEN1, APP
3Golgi apparatusGO:00579410.0APP, APOE, PSEN1, ITM2B, PRNP, ABCA1
4integral to plasma membraneGO:00588710.0APP, PSEN1, MME, LRP1, ABCA1, IFNAR1
5extracellular spaceGO:0056159.9CST3, APOE, ITM2B, PON1, TTR, SERPINA3
6extracellular regionGO:0055769.9C1R, CST3, APP, APOE, ITM2B, PON1
7plasma membraneGO:0058869.6ABCA1, TUBB, IFNAR1, APP, APOE, ITM2B

Biological processes related to Cerebral Amyloid Angiopathy according to GeneCards/GeneDecks:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1smooth endoplasmic reticulum calcium ion homeostasisGO:05156310.5PSEN1, APP
2regulation of Cdc42 protein signal transductionGO:03248910.5ABCA1, APOE
3high-density lipoprotein particle assemblyGO:03438010.5ABCA1, APOE
4beta-amyloid metabolic processGO:05043510.4MME, PSEN1
5retinoid metabolic processGO:00152310.4APOE, LRP1, TTR
6positive regulation of cholesterol effluxGO:01087510.4APOE, PON1, LRP1, ABCA1
7axon cargo transportGO:00808810.4MAPT, APP
8phospholipid effluxGO:03370010.3ABCA1, APOE
9response to oxidative stressGO:00697910.2PRNP, PSEN1, APP
10cellular copper ion homeostasisGO:00687810.2APP, PRNP
11cholesterol metabolic processGO:00820310.2ABCA1, LRP1, PON1, CH25H, APOE, APP
12phototransduction, visible lightGO:0076039.9TTR, LRP1, APOE

Molecular functions related to Cerebral Amyloid Angiopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cholesterol transporter activityGO:01712710.3ABCA1, APOE
2apolipoprotein bindingGO:03418510.2MAPT, LRP1, ABCA1
3beta-amyloid bindingGO:00154010.2ITM2B, APOE, CST3
4lipoprotein particle bindingGO:07181310.0MAPT, APOE
5protein bindingGO:0055159.3SERPINA3, C1R, HSPB6, IFNAR1, CST3, APP

Products for genes affiliated with Cerebral Amyloid Angiopathy

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cerebral Amyloid Angiopathy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet