Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION	91387 C4707243 MONDO:0019625ORPHA91387	ACTA2	Causal	20301299	ClinVar Disgenet GWAS catalog Orphanet
		BGN	Causal	—	ClinGen ClinVar Disgenet GenCC
		CBS	Causal	—	Disgenet
		COL3A1	Causal	—	Disgenet
		COL5A1	Causal	—	Disgenet
		FBN1	Causal	20301299	ClinGen ClinVar Disgenet GenCC Orphanet
		FBN2	Causal	—	ClinGen Disgenet GenCC
		FLNA	Causal	—	ClinGen Disgenet GenCC
		JAG1	Causal	—	Disgenet
		LOX	Causal	26838787 27432961	ClinGen ClinVar Disgenet GenCC Orphanet
		MAT2A	Causal	25557781	ClinGen Disgenet GenCC Orphanet
		MED12	Causal	—	Disgenet
		MFAP5	Causal	25434006	ClinGen Disgenet GenCC Orphanet
		MYH11	Causal	20301299	ClinGen ClinVar Disgenet GenCC Orphanet
		MYLK	Causal	20301299	ClinGen ClinVar Disgenet GenCC Orphanet
		NOTCH1	Causal	—	Disgenet
		PLOD1	Causal	—	Disgenet
		PRKG1	Causal	23910461	ClinGen Disgenet GenCC Orphanet
		SKI	Causal	—	Disgenet
		SLC2A10	Causal	—	Disgenet
		SMAD3	Causal	20301299	ClinGen ClinVar Disgenet GenCC Orphanet
		SMAD4	Causal	30809044	Disgenet GWAS catalog Orphanet
		TGFB2	Causal	22772371	ClinGen Disgenet GenCC Orphanet
		TGFB3	Causal	23824657 25835445	ClinGen Disgenet GenCC Orphanet
		TGFBR1	Causal	20301299	ClinGen ClinVar Disgenet GenCC Orphanet
		TGFBR2	Causal	20301299	ClinGen ClinVar Disgenet GenCC Orphanet
		THSD4	Causal	32855533	CTD Disgenet Orphanet
		COL1A1	Unknown	—	Disgenet
		COL5A2	Unknown	—	Disgenet
		EFEMP2	Unknown	22440127	Disgenet Orphanet
		ELN	Unknown	24932728	Disgenet GenCC Orphanet
		FAS	Unknown	—	Disgenet
		FOXE3	Unknown	26854927	ClinGen ClinVar Disgenet GenCC Orphanet
		GATA5	Unknown	—	Disgenet
		HCN4	Unknown	—	Disgenet
		HEY2	Unknown	32820247	Disgenet GWAS catalog Orphanet
		NDE1	Unknown	—	Disgenet
		ROBO4	Unknown	—	Disgenet
		SMAD2	Unknown	29967133	Disgenet GWAS catalog Orphanet
		SRFBP1	Unknown	—	Disgenet
		TGFBR3	Unknown	—	Disgenet

Thoracic aortic aneurysm and aortic dissection