Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
AORTIC ANEURYSM	EFO_0001666 C0003486 MESH:D001014	ADAMTS8	Unknown	39024449	GWAS catalog	Defective B3GALTL causes Peters-plus syndrome (PpS) O-glycosylation of TSR domain-containing proteins
		AGT	Unknown	21925196	CTD, Disgenet	Phospholipase D signaling pathway Neuroactive ligand-receptor interaction Hormone signaling +18 more
		APOE	Unknown	39024449	GWAS catalog	Cholesterol metabolism Alzheimer disease Nuclear signaling by ERBB4 +10 more
		ARIH1	Unknown	—	Disgenet	Mitophagy - animal ISG15 antiviral mechanism
		CAST	Unknown	39024449	GWAS catalog	Shigellosis Degradation of the extracellular matrix Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models
		CDKN1A	Unknown	39024449	GWAS catalog	Endocrine resistance Platinum drug resistance ErbB signaling pathway +56 more
		CELSR2	Unknown	39024449	GWAS catalog	—
		CHRNA3	Unknown	39024449	GWAS catalog	Neuroactive ligand-receptor interaction Cholinergic synapse Chemical carcinogenesis - receptor activation +3 more
		COL3A1	Unknown	—	Disgenet	Platelet activation Cytoskeleton in muscle cells Relaxin signaling pathway +16 more
		CSMD1	Unknown	39024449	GWAS catalog	—
		DOT1L	Unknown	40465716	GWAS catalog	Lysine degradation Metabolic pathways Transcriptional misregulation in cancer +1 more
		EFEMP2	Unknown	16685658 20019329 22440127 17937443	Disgenet	Molecules associated with elastic fibres
		ELN	Unknown	—	Disgenet	Cytoskeleton in muscle cells Protein digestion and absorption Degradation of the extracellular matrix +2 more
		FBN1	Unknown	34594039 39024449	Disgenet, GWAS catalog	TGF-beta signaling pathway Cytoskeleton in muscle cells Degradation of the extracellular matrix +5 more
		GDF7	Unknown	39024449	GWAS catalog	Cytokine-cytokine receptor interaction TGF-beta signaling pathway Axon guidance +1 more
		IL13RA1	Unknown	34594039	GWAS catalog	Cytokine-cytokine receptor interaction JAK-STAT signaling pathway Pathways in cancer +1 more
		IL6R	Unknown	39024449	GWAS catalog	EGFR tyrosine kinase inhibitor resistance Cytokine-cytokine receptor interaction Viral protein interaction with cytokine and cytokine receptor +13 more
		KCNH5	Unknown	39024449	GWAS catalog	Voltage gated Potassium channels
		LPA	Unknown	39024449	GWAS catalog	Cholesterol metabolism
		LRP1	Unknown	34594039 39024449	GWAS catalog	Efferocytosis Cholesterol metabolism Alzheimer disease +3 more
		MMP13	Unknown	39024449	GWAS catalog	IL-17 signaling pathway Relaxin signaling pathway Parathyroid hormone synthesis, secretion and action +5 more
		MMP9	Unknown	10231640	CTD, Disgenet	Endocrine resistance IL-17 signaling pathway TNF signaling pathway +22 more
		MRC2	Unknown	39024449	GWAS catalog	Phagosome Tuberculosis Cross-presentation of soluble exogenous antigens (endosomes)
		MYH11	Unknown	—	Disgenet	Virion - Lassa virus and SFTS virus Vascular smooth muscle contraction Tight junction +6 more
		NCKAP5	Unknown	39024449	GWAS catalog	—
		NDE1	Unknown	—	Disgenet	Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal Separation of Sister Chromatids Resolution of Sister Chromatid Cohesion +10 more
		NECTIN2	Unknown	39024449	GWAS catalog	Virion - Herpesvirus Cell adhesion molecules Adherens junction +4 more
		PLCE1	Unknown	39024449	GWAS catalog	Inositol phosphate metabolism Metabolic pathways Ras signaling pathway +9 more
		PSRC1	Unknown	39024449	GWAS catalog	—
		SKI	Unknown	23023332	CTD, Disgenet	TGF-beta signaling pathway Signaling by BMP Downregulation of SMAD2/3:SMAD4 transcriptional activity
		SPSB1	Unknown	39024449	GWAS catalog	Neddylation Antigen processing: Ubiquitination & Proteasome degradation
		TGFB2	Unknown	34594039	Disgenet, GWAS catalog	MAPK signaling pathway Cytokine-cytokine receptor interaction FoxO signaling pathway +30 more
		TGFBR1	Unknown	—	Disgenet	MAPK signaling pathway Cytokine-cytokine receptor interaction FoxO signaling pathway +28 more
		TGFBR2	Unknown	16885183	CTD, Disgenet	MAPK signaling pathway Cytokine-cytokine receptor interaction FoxO signaling pathway +28 more
		THSD1	Unknown	—	Disgenet	Defective B3GALTL causes Peters-plus syndrome (PpS) O-glycosylation of TSR domain-containing proteins
		ZCCHC12	Unknown	34594039	GWAS catalog	—
		ZNF335	Unknown	39024449	GWAS catalog	—
		ZPR1	Unknown	39024449	GWAS catalog	—
AORTIC ANEURYSM, ABDOMINAL	MESH:D017544	ACE2	Unknown	25301841	CTD	Renin-angiotensin system Protein digestion and absorption Coronavirus disease - COVID-19 +1 more
		AGT	Unknown	16514081 20937366 22539767 25301841 30354818 34796763 37691532	CTD	Phospholipase D signaling pathway Neuroactive ligand-receptor interaction Hormone signaling +18 more
		AGTR1	Unknown	22539767	CTD	Calcium signaling pathway cGMP-PKG signaling pathway Phospholipase D signaling pathway +18 more
		DAB2IP	Unknown	20622881	CTD	Apoptosis TNF signaling pathway Regulation of RAS by GAPs
		DAPK1	Unknown	34796763	CTD	Autophagy - animal Pathways in cancer Bladder cancer
		MMP14	Unknown	19010778	CTD	TNF signaling pathway GnRH signaling pathway Parathyroid hormone synthesis, secretion and action +3 more
		MMP9	Unknown	17196988	CTD	Endocrine resistance IL-17 signaling pathway TNF signaling pathway +22 more
		NCF1	Unknown	16864727	CTD	Chemokine signaling pathway Phagosome Osteoclast differentiation +14 more
		PARP1	Unknown	30354818	CTD	Base excision repair NF-kappa B signaling pathway Apoptosis +9 more
		PTGS2	Unknown	16514081	CTD	Arachidonic acid metabolism Metabolic pathways NF-kappa B signaling pathway +29 more
		SOD2	Unknown	17196988	CTD	FoxO signaling pathway Peroxisome Longevity regulating pathway +9 more
AORTIC ANEURYSM, FAMILIAL THORACIC 10	C4284414	SRFBP1	Unknown	—	Disgenet	—
AORTIC ANEURYSM, FAMILIAL THORACIC 11, SUSCEPTIBILITY TO	MONDO:0044301 OMIM:617349	FOXE3	Unknown	111042 26854927	CTD, ClinVar, GWAS catalog	—
AORTIC ANEURYSM, FAMILIAL THORACIC 2	C1846837	COL3A1	Unknown	—	Disgenet	Platelet activation Cytoskeleton in muscle cells Relaxin signaling pathway +16 more
		FBN1	Unknown	—	Disgenet	TGF-beta signaling pathway Cytoskeleton in muscle cells Degradation of the extracellular matrix +5 more
		FBN2	Unknown	—	Disgenet	Cytoskeleton in muscle cells Degradation of the extracellular matrix Elastic fibre formation +1 more
AORTIC ANEURYSM, FAMILIAL THORACIC 3	C2674574	TGFBR2	Unknown	—	Disgenet	MAPK signaling pathway Cytokine-cytokine receptor interaction FoxO signaling pathway +28 more
AORTIC ANEURYSM, FAMILIAL THORACIC 4	C1851504	NDE1	Unknown	—	Disgenet	Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal Separation of Sister Chromatids Resolution of Sister Chromatid Cohesion +10 more
AORTIC ANEURYSM, FAMILIAL THORACIC 6	C2673186	FBN1	Unknown	—	Disgenet	TGF-beta signaling pathway Cytoskeleton in muscle cells Degradation of the extracellular matrix +5 more
AORTIC ANEURYSM, FAMILIAL THORACIC 6	C2673186	TGFBR1	Unknown	—	Disgenet	MAPK signaling pathway Cytokine-cytokine receptor interaction FoxO signaling pathway +28 more
AORTIC ANEURYSM, THORACIC	MESH:D017545	FBN1	Unknown	21909107	CTD	TGF-beta signaling pathway Cytoskeleton in muscle cells Degradation of the extracellular matrix +5 more
		MMP9	Unknown	16159824	CTD	Endocrine resistance IL-17 signaling pathway TNF signaling pathway +22 more
		TGFB2	Unknown	22772368 22772371	CTD	MAPK signaling pathway Cytokine-cytokine receptor interaction FoxO signaling pathway +30 more
		TGFBR2	Unknown	16027248	CTD	MAPK signaling pathway Cytokine-cytokine receptor interaction FoxO signaling pathway +28 more

«‹12 ›»

Aortic aneurysm

Bookmark This Disease