Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
CEREBRAL AMYLOID ANGIOPATHY	EFO_0006790 MESH:D016657	ABTB2	Unknown	28322283	GWAS catalog	—
		ADCY9	Unknown	34020725	GWAS catalog	Purine metabolism Metabolic pathways Endocrine resistance +61 more
		ADH1B	Unknown	34020725	GWAS catalog	Glycolysis / Gluconeogenesis Fatty acid degradation Tyrosine metabolism +7 more
		ADH1C	Unknown	34020725	GWAS catalog	Glycolysis / Gluconeogenesis Fatty acid degradation Tyrosine metabolism +8 more
		AP4E1	Unknown	34020725	GWAS catalog	Lysosome Lysosome Vesicle Biogenesis Golgi Associated Vesicle Biogenesis
		APOC1	Unknown	34020725	GWAS catalog	Cholesterol metabolism VLDL assembly VLDL clearance +1 more
		APOE	Unknown	11061249 28322283 29458411 34020725	CTD, GWAS catalog	Cholesterol metabolism Alzheimer disease Nuclear signaling by ERBB4 +10 more
		APP	Unknown	21520056	CTD	Serotonergic synapse Alzheimer disease Pathways of neurodegeneration - multiple diseases +16 more
		ARHGAP23	Unknown	34020725	GWAS catalog	Rho GTPase cycle
		ATP10A	Unknown	28322283	GWAS catalog	Ion transport by P-type ATPases
		CDH1	Unknown	34020725	GWAS catalog	Rap1 signaling pathway Apelin signaling pathway Hippo signaling pathway +15 more
		CDKAL1	Unknown	28322283	GWAS catalog	tRNA modification in the nucleus and cytosol
		CFAP298-TCP10L	Unknown	34020725	GWAS catalog	—
		CPA6	Unknown	34020725	GWAS catalog	—
		CPPED1	Unknown	25188341	GWAS catalog	Neutrophil degranulation
		DNER	Unknown	34020725	GWAS catalog	—
		DOCK10	Unknown	34020725	GWAS catalog	Factors involved in megakaryocyte development and platelet production
		DYSF	Unknown	34020725	GWAS catalog	Smooth Muscle Contraction
		ECRG4	Unknown	29458411	GWAS catalog	—
		EFHB	Unknown	34020725	GWAS catalog	—
		EFR3A	Unknown	34020725	GWAS catalog	—
		ELMOD1	Unknown	34020725	GWAS catalog	—
		EMCN	Unknown	34020725	GWAS catalog	—
		EVA1C	Unknown	34020725	GWAS catalog	—
		FAM124A	Unknown	34020725	GWAS catalog	—
		FSTL5	Unknown	34020725	GWAS catalog	—
		GRIK2	Unknown	34020725	GWAS catalog	Neuroactive ligand-receptor interaction Glutamatergic synapse Activation of Na-permeable kainate receptors +1 more
		HDAC9	Unknown	29458411	GWAS catalog	Neutrophil extracellular trap formation Alcoholism Viral carcinogenesis +3 more
		HPCAL1	Unknown	34020725	GWAS catalog	—
		HS1BP3	Unknown	34020725	GWAS catalog	—
		HS3ST4	Unknown	28322283	GWAS catalog	HS-GAG biosynthesis
		KAZN	Unknown	28322283	GWAS catalog	Formation of the cornified envelope
		KCNB2	Unknown	28322283	GWAS catalog	Voltage gated Potassium channels
		KCNH8	Unknown	34020725	GWAS catalog	Voltage gated Potassium channels
		KCTD12	Unknown	28322283	GWAS catalog	—
		KRT73	Unknown	34020725	GWAS catalog	Keratinization Formation of the cornified envelope
		KSR2	Unknown	34020725	GWAS catalog	Ras signaling pathway MAP2K and MAPK activation Signaling by moderate kinase activity BRAF mutants +4 more
		MCC	Unknown	25188341	GWAS catalog	Wnt signaling pathway
		NCALD	Unknown	25188341	GWAS catalog	Olfactory transduction Activation of Ca-permeable Kainate Receptor
		NCK2	Unknown	29458411	GWAS catalog	ErbB signaling pathway Axon guidance T cell receptor signaling pathway +5 more
		NECTIN2	Unknown	25188341	GWAS catalog	Virion - Herpesvirus Cell adhesion molecules Adherens junction +4 more
		NEDD1	Unknown	34020725	GWAS catalog	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes +4 more
		NFIA	Unknown	34020725	GWAS catalog	—
		PLOD3	Unknown	34020725	GWAS catalog	Lysine degradation Other types of O-glycan biosynthesis Metabolic pathways +1 more
		POLD3	Unknown	28322283	GWAS catalog	DNA replication Base excision repair Nucleotide excision repair +19 more
		POU3F2	Unknown	34020725	GWAS catalog	EGR2 and SOX10-mediated initiation of Schwann cell myelination
		PPP1R14C	Unknown	34020725	GWAS catalog	—
		PRR16	Unknown	28322283	GWAS catalog	—
		PTPRD	Unknown	28322283	GWAS catalog	Cell adhesion molecules Receptor-type tyrosine-protein phosphatases Synaptic adhesion-like molecules
		RAG1	Unknown	28322283	GWAS catalog	FoxO signaling pathway Primary immunodeficiency MAPK6/MAPK4 signaling
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED	605714 C2751536 MONDO:0011583	APP	Causal	10570203 11063718 11409420 11528419 1302033 15311281 15365148 15776278 16178030 18437002 19026746 20010303 20697050 2111584 21335619 22702962 23715323 23931937 26803359 27858710 30090657 34532568 38130827 7986173 8810256 9328472	ClinGen, ClinVar, Disgenet, GWAS catalog, HPO	Serotonergic synapse Alzheimer disease Pathways of neurodegeneration - multiple diseases +16 more
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ARCTIC VARIANT	C2751494	APP	Unknown	—	Disgenet	Serotonergic synapse Alzheimer disease Pathways of neurodegeneration - multiple diseases +16 more
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, FLEMISH VARIANT	C3888307	APP	Unknown	—	Disgenet	Serotonergic synapse Alzheimer disease Pathways of neurodegeneration - multiple diseases +16 more
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, IOWA VARIANT	C3888309	APP	Unknown	—	Disgenet	Serotonergic synapse Alzheimer disease Pathways of neurodegeneration - multiple diseases +16 more
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ITALIAN VARIANT	C3888308	APP	Unknown	—	Disgenet	Serotonergic synapse Alzheimer disease Pathways of neurodegeneration - multiple diseases +16 more
CEREBRAL AMYLOID ANGIOPATHY, GENETIC	C1956349	APOE	Unknown	—	Disgenet	Cholesterol metabolism Alzheimer disease Nuclear signaling by ERBB4 +10 more
CEREBRAL AMYLOID ANGIOPATHY, GENETIC	C1956349	APP	Unknown	—	Disgenet	Serotonergic synapse Alzheimer disease Pathways of neurodegeneration - multiple diseases +16 more
CEREBRAL AMYLOID ANGIOPATHY, HEREDITARY	C1510489	APOE	Unknown	—	Disgenet	Cholesterol metabolism Alzheimer disease Nuclear signaling by ERBB4 +10 more
CEREBRAL AMYLOID ANGIOPATHY, HEREDITARY	C1510489	APP	Unknown	—	Disgenet	Serotonergic synapse Alzheimer disease Pathways of neurodegeneration - multiple diseases +16 more
FAMILIAL CEREBRAL AMYLOID ANGIOPATHY	C0268393	APP	Unknown	—	Disgenet	Serotonergic synapse Alzheimer disease Pathways of neurodegeneration - multiple diseases +16 more

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Cerebral amyloid angiopathy

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