Hemophilia a | Gene-Disease Associations & Pathways | GeDiPNet

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Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
HEMOPHILIA A	C0019069 306700 MESH:D006467 MONDO:0010602	ACVRL1	Unknown	—	Disgenet	Cytokine-cytokine receptor interaction Signaling by BMP
		F2	Unknown	—	Disgenet	Phospholipase D signaling pathway Neuroactive ligand-receptor interaction Complement and coagulation cascades +17 more
		F8	Unknown	10886198 11918545 16051741 12847523 16805874 2105106 28252515 2987704 30210749 3035554 3286010 7647782 8281136	CTD, ClinGen, Disgenet, HPO	Complement and coagulation cascades Platelet degranulation Intrinsic Pathway of Fibrin Clot Formation +3 more
		F9	Unknown	16051741	CTD, Disgenet	Complement and coagulation cascades Extrinsic Pathway of Fibrin Clot Formation Intrinsic Pathway of Fibrin Clot Formation +3 more
		FCGR2A	Unknown	—	Disgenet	Phagosome Osteoclast differentiation Platelet activation +14 more
		FUNDC2	Unknown	—	Disgenet	—
		HLA-DQA1	Unknown	—	Disgenet	Phagosome Cell adhesion molecules Antigen processing and presentation +28 more
		HMOX1	Unknown	—	Disgenet	Porphyrin metabolism Metabolic pathways HIF-1 signaling pathway +11 more
		IFNG	Unknown	—	Disgenet	Proteasome Cytokine-cytokine receptor interaction HIF-1 signaling pathway +33 more
		IL10	Unknown	—	Disgenet	Cytokine-cytokine receptor interaction Viral protein interaction with cytokine and cytokine receptor FoxO signaling pathway +25 more
		LMAN1	Unknown	—	Disgenet	Protein processing in endoplasmic reticulum COPII-mediated vesicle transport Cargo concentration in the ER +1 more
		MTHFR	Unknown	—	Disgenet	One carbon pool by folate Metabolic pathways Antifolate resistance +2 more
		PLAT	Unknown	—	Disgenet	Apelin signaling pathway Complement and coagulation cascades Transcriptional misregulation in cancer +4 more
		TFPI	Unknown	—	Disgenet	Complement and coagulation cascades Extrinsic Pathway of Fibrin Clot Formation
		TGFB1	Unknown	—	Disgenet	MAPK signaling pathway Cytokine-cytokine receptor interaction FoxO signaling pathway +49 more
		VWF	Unknown	—	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +20 more
MILD HEMOPHILIA A	169808 MONDO:0015721	F8	Causal	20301578	CTD, Orphanet	Complement and coagulation cascades Platelet degranulation Intrinsic Pathway of Fibrin Clot Formation +3 more
MODERATE HEMOPHILIA A	169805	F8	Unknown	20301578	Orphanet	Complement and coagulation cascades Platelet degranulation Intrinsic Pathway of Fibrin Clot Formation +3 more
MODERATELY SEVERE HEMOPHILIA A	MONDO:0015720	F8	Unknown	20301578	GWAS catalog, ClinGen	Complement and coagulation cascades Platelet degranulation Intrinsic Pathway of Fibrin Clot Formation +3 more