Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
MARFAN SYNDROME	154700 C0024796 MESH:D008382 MONDO:0007947	FBN1	Causal	15235604 17657824 18178469 18212506 19430350 21909107 22772368 8428751 1631074 8504310 7611299 21594993 7762551 18412115 15032979 15287423 1301946 8040326 8430317 8101042 9101298 8406497 11175294 10766875 17492313 21594992 173665	CTD, ClinGen, ClinVar, Disgenet, GWAS catalog, HPO	TGF-beta signaling pathway Cytoskeleton in muscle cells Degradation of the extracellular matrix +5 more
		LTBP2	Causal	—	Disgenet	Molecules associated with elastic fibres
		TGFB2	Causal	—	CTD, Disgenet	MAPK signaling pathway Cytokine-cytokine receptor interaction FoxO signaling pathway +30 more
		TGFBR1	Causal	—	CTD, Disgenet	MAPK signaling pathway Cytokine-cytokine receptor interaction FoxO signaling pathway +28 more
		TGFBR2	Causal	15235604	CTD, Disgenet	MAPK signaling pathway Cytokine-cytokine receptor interaction FoxO signaling pathway +28 more
		ACTA2	Unknown	—	CTD	Vascular smooth muscle contraction Apelin signaling pathway Motor proteins +3 more
		ARIH1	Unknown	—	CTD	Mitophagy - animal ISG15 antiviral mechanism
		BGN	Unknown	—	CTD	Cytoskeleton in muscle cells A tetrasaccharide linker sequence is required for GAG synthesis Chondroitin sulfate biosynthesis +9 more
		CAT	Unknown	25101153	CTD, Disgenet	Tryptophan metabolism Glyoxylate and dicarboxylate metabolism Metabolic pathways +11 more
		COL1A1	Unknown	—	CTD	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +26 more
		COL2A1	Unknown	—	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +14 more
		COL3A1	Unknown	—	CTD, Disgenet	Platelet activation Cytoskeleton in muscle cells Relaxin signaling pathway +16 more
		COL5A1	Unknown	—	CTD, Disgenet	Cytoskeleton in muscle cells Protein digestion and absorption Collagen degradation +10 more
		COL5A2	Unknown	—	Disgenet	Cytoskeleton in muscle cells Protein digestion and absorption Collagen degradation +10 more
		FBN2	Unknown	—	CTD, Disgenet	Cytoskeleton in muscle cells Degradation of the extracellular matrix Elastic fibre formation +1 more
		FLNA	Unknown	—	Disgenet	MAPK signaling pathway Focal adhesion Salmonella infection +6 more
		HCN4	Unknown	—	CTD	cAMP signaling pathway Taste transduction HCN channels
		HEY2	Unknown	—	CTD	Notch signaling pathway Human papillomavirus infection Pathways in cancer +4 more
		IPO8	Unknown	—	CTD	Nucleocytoplasmic transport Transcriptional regulation by small RNAs
		JAG1	Unknown	—	CTD	Endocrine resistance Notch signaling pathway Apelin signaling pathway +12 more
		LAMC1	Unknown	25101153	CTD, Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +10 more
		LOX	Unknown	—	CTD	Elastic fibre formation Crosslinking of collagen fibrils
		LTBP3	Unknown	—	CTD	Molecules associated with elastic fibres
		MAT2A	Unknown	—	CTD	Cysteine and methionine metabolism One carbon pool by folate Metabolic pathways +3 more
		MFAP5	Unknown	—	CTD	Elastic fibre formation Molecules associated with elastic fibres
		MMP2	Unknown	18178469	CTD, Disgenet	Endocrine resistance Leukocyte transendothelial migration GnRH signaling pathway +15 more
		MMP9	Unknown	18178469	CTD, Disgenet	Endocrine resistance IL-17 signaling pathway TNF signaling pathway +22 more
		MYH11	Unknown	—	CTD, Disgenet	Virion - Lassa virus and SFTS virus Vascular smooth muscle contraction Tight junction +6 more
		MYLK	Unknown	—	CTD, Disgenet	Calcium signaling pathway cGMP-PKG signaling pathway Vascular smooth muscle contraction +8 more
		NOS2	Unknown	25101153	CTD, Disgenet	Arginine biosynthesis Arginine and proline metabolism Metabolic pathways +21 more
		NOTCH1	Unknown	—	CTD, Disgenet	Endocrine resistance Notch signaling pathway Th1 and Th2 cell differentiation +20 more
		NPR3	Unknown	—	CTD	Hormone signaling
		PMEPA1	Unknown	—	CTD	Downregulation of TGF-beta receptor signaling
		PRKG1	Unknown	—	CTD	cGMP-PKG signaling pathway Hormone signaling Vascular smooth muscle contraction +10 more
		SLC2A10	Unknown	—	CTD	Cellular hexose transport Defective SLC2A10 causes arterial tortuosity syndrome (ATS)
		SMAD2	Unknown	—	CTD	Cell cycle Endocytosis Cellular senescence +30 more
		SMAD3	Unknown	—	CTD	FoxO signaling pathway Cell cycle Endocytosis +34 more
		SMAD4	Unknown	—	CTD	FoxO signaling pathway Hormone signaling Cell cycle +30 more
		SOD1	Unknown	25101153	CTD, Disgenet	Peroxisome Longevity regulating pathway - multiple species Parkinson disease +8 more
		SOD2	Unknown	25101153	CTD, Disgenet	FoxO signaling pathway Peroxisome Longevity regulating pathway +9 more
		TGFB3	Unknown	—	CTD	MAPK signaling pathway Cytokine-cytokine receptor interaction FoxO signaling pathway +27 more
		THSD4	Unknown	—	CTD	TGF-beta signaling pathway Defective B3GALTL causes Peters-plus syndrome (PpS) O-glycosylation of TSR domain-containing proteins
		YY1AP1	Unknown	—	CTD	—
MARFAN SYNDROME TYPE 1	284963	FBN1	Unknown	—	Orphanet	TGF-beta signaling pathway Cytoskeleton in muscle cells Degradation of the extracellular matrix +5 more
MARFAN SYNDROME TYPE 2	284973 C2931058	TGFBR1	Unknown	16799921 18781618	Disgenet, Orphanet	MAPK signaling pathway Cytokine-cytokine receptor interaction FoxO signaling pathway +28 more
MARFAN SYNDROME TYPE 2	284973 C2931058	TGFBR2	Unknown	—	Disgenet, Orphanet	MAPK signaling pathway Cytokine-cytokine receptor interaction FoxO signaling pathway +28 more
MARFAN SYNDROME, TYPE I	C4721845	FBN1	Unknown	7951214 8071963 20803651 8040326 8136837 15221638 9452085 1852208 9837823 8281141 15161917 12161601 8504310 22772377 8406497 10425041 12402346 10694921 7977366 16220557 7611299 10441597 16222657 17657824 18435798 8004112 21542060 9401003 7870075 9016526	Disgenet	TGF-beta signaling pathway Cytoskeleton in muscle cells Degradation of the extracellular matrix +5 more

Marfan syndrome

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