Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name ACVRL1 gene ACVRL1 ClinGen;Expert Review Red ClinGen_Familial thoracic aortic aneurysm and aortic dissection MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial thoracic aortic aneurysm and aortic dissection False 1 0;0;0 0.12 False ENSG00000139567 ENSG00000139567 HGNC:175 ADAMTS10 gene ADAMTS10 ClinGen;Expert Review Red ClinGen_Familial thoracic aortic aneurysm and aortic dissection MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial thoracic aortic aneurysm and aortic dissection False 1 0;0;0 0.12 False ENSG00000142303 ENSG00000142303 HGNC:13201 B3GAT3 gene B3GAT3 ClinGen;Expert Review Red ClinGen_Familial thoracic aortic aneurysm and aortic dissection BIALLELIC, autosomal or pseudoautosomal Familial thoracic aortic aneurysm and aortic dissection False 1 0;0;0 0.12 False ENSG00000149541 ENSG00000149541 HGNC:923 BGN gene BGN ClinGen;Expert Review Red ClinGen_Familial thoracic aortic aneurysm and aortic dissection MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial thoracic aortic aneurysm and aortic dissection False 1 0;0;0 0.12 False ENSG00000182492 ENSG00000182492 HGNC:1044 CBS gene CBS ClinGen;Expert Review Red ClinGen_Familial thoracic aortic aneurysm and aortic dissection MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial thoracic aortic aneurysm and aortic dissection False 1 0;0;0 0.12 False ENSG00000160200 ENSG00000160200 HGNC:1550 COL11A1 gene COL11A1 ClinGen;Expert Review Red ClinGen_Familial thoracic aortic aneurysm and aortic dissection MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial thoracic aortic aneurysm and aortic dissection False 1 0;0;0 0.12 False ENSG00000060718 ENSG00000060718 HGNC:2186 COL18A1 gene COL18A1 ClinGen;Expert Review Red ClinGen_Familial thoracic aortic aneurysm and aortic dissection MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial thoracic aortic aneurysm and aortic dissection False 1 0;0;0 0.12 False ENSG00000182871 ENSG00000182871 HGNC:2195 COL1A1 gene COL1A1 ClinGen;Expert Review Red ClinGen_Familial thoracic aortic aneurysm and aortic dissection MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial thoracic aortic aneurysm and aortic dissection False 1 0;0;0 0.12 False ENSG00000108821 ENSG00000108821 HGNC:2197 COL1A2 gene COL1A2 ClinGen;Expert Review Red ClinGen_Familial thoracic aortic aneurysm and aortic dissection MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial thoracic aortic aneurysm and aortic dissection False 1 0;0;0 0.12 False ENSG00000164692 ENSG00000164692 HGNC:2198 COL4A1 gene COL4A1 ClinGen;Expert Review Red ClinGen_Familial thoracic aortic aneurysm and aortic dissection MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial thoracic aortic aneurysm and aortic dissection False 1 0;0;0 0.12 False ENSG00000187498 ENSG00000187498 HGNC:2202 COL4A5 gene COL4A5 ClinGen;Expert Review Red ClinGen_Familial thoracic aortic aneurysm and aortic dissection X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Familial thoracic aortic aneurysm and aortic dissection False 1 0;0;0 0.12 False ENSG00000188153 ENSG00000188153 HGNC:2207 COL5A1 gene COL5A1 ClinGen;Expert Review Red ClinGen_Familial thoracic aortic aneurysm and aortic dissection MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial thoracic aortic aneurysm and aortic dissection False 1 0;0;0 0.12 False ENSG00000130635 ENSG00000130635 HGNC:2209 COL5A2 gene COL5A2 ClinGen;Expert Review Red ClinGen_Familial thoracic aortic aneurysm and aortic dissection MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial thoracic aortic aneurysm and aortic dissection False 1 0;0;0 0.12 False ENSG00000204262 ENSG00000204262 HGNC:2210 COL9A1 gene COL9A1 ClinGen;Expert Review Red ClinGen_Familial thoracic aortic aneurysm and aortic dissection MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial thoracic aortic aneurysm and aortic dissection False 1 0;0;0 0.12 False ENSG00000112280 ENSG00000112280 HGNC:2217 COL9A2 gene COL9A2 ClinGen;Expert Review Red ClinGen_Familial thoracic aortic aneurysm and aortic dissection MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial thoracic aortic aneurysm and aortic dissection False 1 0;0;0 0.12 False ENSG00000049089 ENSG00000049089 HGNC:2218 DBP gene DBP ClinGen;Expert Review Red ClinGen_Familial thoracic aortic aneurysm and aortic dissection MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial thoracic aortic aneurysm and aortic dissection False 1 0;0;0 0.12 False ENSG00000105516 ENSG00000105516 HGNC:2697 ELN gene ELN ClinGen;Expert Review Red ClinGen_Familial thoracic aortic aneurysm and aortic dissection MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial thoracic aortic aneurysm and aortic dissection False 1 0;0;0 0.12 False ENSG00000049540 ENSG00000049540 HGNC:3327 EMILIN1 gene EMILIN1 ClinGen;Expert Review Red ClinGen_Familial thoracic aortic aneurysm and aortic dissection MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial thoracic aortic aneurysm and aortic dissection False 1 0;0;0 0.12 False ENSG00000138080 ENSG00000138080 HGNC:19880 ENG gene ENG ClinGen;Expert Review Red ClinGen_Familial thoracic aortic aneurysm and aortic dissection MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial thoracic aortic aneurysm and aortic dissection False 1 0;0;0 0.12 False ENSG00000106991 ENSG00000106991 HGNC:3349 FBN2 gene FBN2 ClinGen;Expert Review Red ClinGen_Familial thoracic aortic aneurysm and aortic dissection MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial thoracic aortic aneurysm and aortic dissection False 1 0;0;0 0.12 False ENSG00000138829 ENSG00000138829 HGNC:3604 FLNA gene FLNA ClinGen;Expert Review Red ClinGen_Familial thoracic aortic aneurysm and aortic dissection MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial thoracic aortic aneurysm and aortic dissection False 1 0;0;0 0.12 False ENSG00000196924 ENSG00000196924 HGNC:3754 GATA5 gene GATA5 ClinGen;Expert Review Red ClinGen_Familial thoracic aortic aneurysm and aortic dissection MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial thoracic aortic aneurysm and aortic dissection False 1 0;0;0 0.12 False ENSG00000130700 ENSG00000130700 HGNC:15802 HCN4 gene HCN4 ClinGen;Expert Review Red ClinGen_Familial thoracic aortic aneurysm and aortic dissection MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial thoracic aortic aneurysm and aortic dissection False 1 0;0;0 0.12 False ENSG00000138622 ENSG00000138622 HGNC:16882 JAG1 gene JAG1 ClinGen;Expert Review Red ClinGen_Familial thoracic aortic aneurysm and aortic dissection MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial thoracic aortic aneurysm and aortic dissection False 1 0;0;0 0.12 False ENSG00000101384 ENSG00000101384 HGNC:6188 MAT2A gene MAT2A ClinGen;Expert Review Red ClinGen_Familial thoracic aortic aneurysm and aortic dissection MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial thoracic aortic aneurysm and aortic dissection False 1 0;0;0 0.12 False ENSG00000168906 ENSG00000168906 HGNC:6904 MED12 gene MED12 ClinGen;Expert Review Red ClinGen_Familial thoracic aortic aneurysm and aortic dissection MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial thoracic aortic aneurysm and aortic dissection False 1 0;0;0 0.12 False ENSG00000184634 ENSG00000184634 HGNC:11957 NOTCH1 gene NOTCH1 ClinGen;Expert Review Red ClinGen_Familial thoracic aortic aneurysm and aortic dissection MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial thoracic aortic aneurysm and aortic dissection False 1 0;0;0 0.12 False ENSG00000148400 ENSG00000148400 HGNC:7881 PKD1 gene PKD1 ClinGen;Expert Review Red ClinGen_Familial thoracic aortic aneurysm and aortic dissection MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial thoracic aortic aneurysm and aortic dissection False 1 0;0;0 0.12 False ENSG00000008710 ENSG00000008710 HGNC:9008 PKD2 gene PKD2 ClinGen;Expert Review Red ClinGen_Familial thoracic aortic aneurysm and aortic dissection MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial thoracic aortic aneurysm and aortic dissection False 1 0;0;0 0.12 False ENSG00000118762 ENSG00000118762 HGNC:9009 PLOD1 gene PLOD1 ClinGen;Expert Review Red ClinGen_Familial thoracic aortic aneurysm and aortic dissection MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial thoracic aortic aneurysm and aortic dissection False 1 0;0;0 0.12 False ENSG00000083444 ENSG00000083444 HGNC:9081 PLOD3 gene PLOD3 ClinGen;Expert Review Red ClinGen_Familial thoracic aortic aneurysm and aortic dissection MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial thoracic aortic aneurysm and aortic dissection False 1 0;0;0 0.12 False ENSG00000106397 ENSG00000106397 HGNC:9083 SKI gene SKI ClinGen;Expert Review Red ClinGen_Familial thoracic aortic aneurysm and aortic dissection MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial thoracic aortic aneurysm and aortic dissection False 1 0;0;0 0.12 False ENSG00000157933 ENSG00000157933 HGNC:10896 SLC2A10 gene SLC2A10 ClinGen;Expert Review Red ClinGen_Familial thoracic aortic aneurysm and aortic dissection MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial thoracic aortic aneurysm and aortic dissection False 1 0;0;0 0.12 False ENSG00000197496 ENSG00000197496 HGNC:13444 SMAD2 gene SMAD2 ClinGen;Expert Review Red ClinGen_Familial thoracic aortic aneurysm and aortic dissection MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial thoracic aortic aneurysm and aortic dissection False 1 0;0;0 0.12 False ENSG00000175387 ENSG00000175387 HGNC:6768 SMAD4 gene SMAD4 ClinGen;Expert Review Red ClinGen_Familial thoracic aortic aneurysm and aortic dissection MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial thoracic aortic aneurysm and aortic dissection False 1 0;0;0 0.12 False ENSG00000141646 ENSG00000141646 HGNC:6770 SMAD6 gene SMAD6 ClinGen;Expert Review Red ClinGen_Familial thoracic aortic aneurysm and aortic dissection MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial thoracic aortic aneurysm and aortic dissection False 1 0;0;0 0.12 False ENSG00000137834 ENSG00000137834 HGNC:6772 TGFB3 gene TGFB3 ClinGen;Expert Review Red ClinGen_Familial thoracic aortic aneurysm and aortic dissection MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial thoracic aortic aneurysm and aortic dissection False 1 0;0;0 0.12 False ENSG00000119699 ENSG00000119699 HGNC:11769 UPF3B gene UPF3B ClinGen;Expert Review Red ClinGen_Familial thoracic aortic aneurysm and aortic dissection MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial thoracic aortic aneurysm and aortic dissection False 1 0;0;0 0.12 False ENSG00000125351 ENSG00000125351 HGNC:20439 VCAN gene VCAN ClinGen;Expert Review Red ClinGen_Familial thoracic aortic aneurysm and aortic dissection MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial thoracic aortic aneurysm and aortic dissection False 1 0;0;0 0.12 False ENSG00000038427 ENSG00000038427 HGNC:2464