Hereditary hemorrhagic telangiectasia | Gene-Disease Associations & Pathways | GeDiPNet

GeDiPNet

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Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
HEREDITARY HEMORRHAGIC TELANGIECTASIA	774 C0039445 MONDO:0019180	ACVRL1	Causal	20301525	Disgenet, GenCC, Orphanet	Cytokine-cytokine receptor interaction Signaling by BMP
		ENG	Causal	20301525	Disgenet, Orphanet	—
		RASA1	Causal	—	Disgenet	MAPK signaling pathway Ras signaling pathway Axon guidance +5 more
		CCNH	Unknown	—	Disgenet	Basal transcription factors Nucleotide excision repair Cell cycle +24 more
		GDF2	Unknown	23972370	Disgenet, Orphanet	Cytokine-cytokine receptor interaction Signaling by BMP
		SMAD4	Unknown	20301525	Disgenet, GWAS catalog, Orphanet	FoxO signaling pathway Hormone signaling Cell cycle +30 more
HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION	C1832529	ACVRL1	Unknown	—	Disgenet	Cytokine-cytokine receptor interaction Signaling by BMP
	C1832529	ENG	Unknown	—	Disgenet	—
TELANGIECTASIA, HEREDITARY HEMORRHAGIC	MESH:D013683	ACVRL1	Unknown	20135064	CTD	Cytokine-cytokine receptor interaction Signaling by BMP
		ENG	Unknown	15115879 20135064	CTD	—
		GDF2	Unknown	26801773	CTD	Cytokine-cytokine receptor interaction Signaling by BMP
TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1	187300 C4551861 MONDO:0008535	ENG	Causal	7894484 25970827 30251589	ClinGen, ClinVar, Disgenet, GWAS catalog, HPO	—
		PSEN1	Causal	—	Disgenet	Wnt signaling pathway Notch signaling pathway Neurotrophin signaling pathway +12 more
		GDF2	Unknown	23972370 27081547	Disgenet, HPO	Cytokine-cytokine receptor interaction Signaling by BMP
		RASA1	Unknown	—	Disgenet	MAPK signaling pathway Ras signaling pathway Axon guidance +5 more
		SMAD4	Unknown	15754356	Disgenet	FoxO signaling pathway Hormone signaling Cell cycle +30 more
TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	600376 MONDO:0010880	ACVRL1	Causal	8640225 16155196 14684682	CTD, ClinGen, ClinVar, HPO	Cytokine-cytokine receptor interaction Signaling by BMP
TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5	615506 C3809710 MONDO:0014217 OMIM:615506	GDF2	Causal	32669404 33834622 27081547 23972370 34904380 32573726 25674101	CTD, ClinGen, ClinVar, Disgenet, GenCC, HPO	Cytokine-cytokine receptor interaction Signaling by BMP