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
A case report of cerebral amyloid angiopathy-related inflammation treated with cyclophosphamide. (24429648)
2014
2
ATP-binding cassette transporters P-glycoprotein and breast cancer related protein are reduced in capillary cerebral amyloid angiopathy. (24138987)
2014
3
Neuropathology of cortical superficial siderosis and cerebral amyloid angiopathy: new insights, new questions. (24281141)
2013
4
The relationship between cerebral amyloid angiopathy and cortical microinfarcts in brain ageing and Alzheimer's disease. (23163235)
2013
5
Predicting sites of new hemorrhage with amyloid imaging in cerebral amyloid angiopathy. (22786597)
2012
6
Tissue transglutaminase: a novel therapeutic target in cerebral amyloid angiopathy. (22156619)
2012
7
Cerebral amyloid angiopathy. (22482447)
2012
8
Plasma I^-amyloid levels in cerebral amyloid angiopathy-associated hemorrhagic stroke. (22261638)
2012
9
Cerebral amyloid angiopathy related inflammation: three case reports and a review. (20935328)
2011
10
Prevalence of superficial siderosis in patients with cerebral amyloid angiopathy. (20975060)
2010
11
Steroid responsive encephalopathy in cerebral amyloid angiopathy: a case report and review of evidence for immunosuppressive treatment. (20214781)
2010
12
Apolipoprotein A-I deficiency increases cerebral amyloid angiopathy and cognitive deficits in APP/PS1DeltaE9 mice. (20739292)
2010
13
Prevalence of superficial siderosis in patients with cerebral amyloid angiopathy. (20421578)
2010
14
Capillary cerebral amyloid angiopathy identifies a distinct APOE epsilon4-associated subtype of sporadic Alzheimer's disease. (20535486)
2010
15
Cerebral amyloid angiopathy: progressive disruption of the neurovascular unit. (19064794)
2009
16
Unexpectedly low prevalence of intracerebral hemorrhages in sporadic cerebral amyloid angiopathy: an autopsy study. (18202817)
2008
17
Impaired visual evoked flow velocity response in cerebral amyloid angiopathy. (18955685)
2008
18
Cerebral amyloid angiopathy-related hemorrhage in a middle-aged patient with Down's syndrome. (19065301)
2008
19
Antibody-mediated clearance of amyloid-beta peptide from cerebral amyloid angiopathy revealed by quantitative in vivo imaging. (17314293)
2007
20
Transient neurologic symptoms related to cerebral amyloid angiopathy: usefulness of T2*-weighted imaging. (16210853)
2005
21
Clinical manifestations of cerebral amyloid angiopathy-related inflammation. (14755729)
2004
22
Cerebral amyloid angiopathy and dementia. (15876981)
2004
23
Relationships between arteriosclerosis, cerebral amyloid angiopathy and myelin loss from cerebral cortical white matter in Alzheimer's disease. (14720176)
2004
24
MR spectroscopy in the diagnosis of cerebral amyloid angiopathy presenting as a brain tumor. (15569734)
2004
25
Cerebral amyloid angiopathy plays a direct role in the pathogenesis of Alzheimer's disease. Pro-CAA position statement. (15172734)
2004
26
APOE and cerebral amyloid angiopathy in the elderly. (12960780)
2003
27
Thrombolysis induces cerebral hemorrhage in a mouse model of cerebral amyloid angiopathy. (12112090)
2002
28
Risk factors for cerebral amyloid angiopathy in the elderly. (12480732)
2002
29
No association of paraoxonase genotype or atherosclerosis with cerebral amyloid angiopathy. (11935033)
2002
30
First international conference on cerebral amyloid angiopathy, October 5-6, 2000, Boston, MA. (11409036)
2001
31
Familial amyloidotic polyneuropathy (ATTR Val30Met) with widespread cerebral amyloid angiopathy and lethal cerebral hemorrhage. (11422811)
2001
32
Cerebral amyloid angiopathy associated with hemorrhage: immunohistochemical study of 41 biopsy cases. (11760381)
2001
33
Role of apoe/Abeta interactions in the pathogenesis of Alzheimer's disease and cerebral amyloid angiopathy. (11816788)
2001
34
Cerebral amyloid angiopathies]. (11094619)
2000
35
Cerebral amyloid angiopathy: accumulation of A beta in interstitial fluid drainage pathways in Alzheimer's disease. (10818495)
2000
36
Apolipoprotein E genotype and cerebral amyloid angiopathy-related hemorrhage. (10818505)
2000
37
Warfarin-associated hemorrhage and cerebral amyloid angiopathy: a genetic and pathologic study. (11061249)
2000
38
Postoperative outcome of 37 patients with lobar intracerebral hemorrhage related to cerebral amyloid angiopathy. (9880384)
1999
39
Cerebral amyloid angiopathy: amyloid beta accumulates in putative interstitial fluid drainage pathways in Alzheimer's disease. (9736023)
1998
40
Cerebral amyloid angiopathy presenting as a nonhemorrhagic, infiltrating mass. (8837089)
1996
41
Leukoencephalopathy-related cerebral amyloid angiopathy with cystatin C deposition. (8711812)
1996
42
Cerebral amyloid angiopathy, leukoencephalopathy and dementia of acute onset. Clinicopathological study of a new case. (24283523)
1995
43
Dementia in cerebral amyloid angiopathy: a clinicopathological study. (1447572)
1992
44
Immunohistochemical studies on canine cerebral amyloid angiopathy and senile plaques. (1391176)
1992
45
Cerebral amyloid angiopathy and Alzheimer's disease: two entities or one? (1469419)
1992
46
Surgical considerations in cerebral amyloid angiopathy. (1961401)
1991
47
Diagnosis of cerebral amyloid angiopathy with cerebral hemorrhage by enzyme linked immunosorbent assay (ELISA) of cystatin C in the cerebrospinal fluid]. (2364630)
1990
48
Surgical experience with cerebral amyloid angiopathy. (2237947)
1990
49
Cerebral amyloid angiopathy with the deposition of cystatin C (gamma-trace) and beta-protein. (2690129)
1989
50
Cerebral amyloid angiopathy with attenuation of the white matter on CT scans: subcortical arteriosclerotic encephalopathy (Binswanger) in a normotensive patient. (3221249)
1988

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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Sources:
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
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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