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 ACVR1 gene ACVR1 Emory Genetics Laboratory;Expert list Ehlers Danlos syndrome with a likely monogenic cause Connective tissues disorders Rheumatological disorders Connective Tissue Disorders False 1 0;0;100 3.11 False ENSG00000115170 ENSG00000115170 HGNC:171 COX7B gene COX7B Radboud University Medical Center, Nijmegen Ehlers Danlos syndrome with a likely monogenic cause Connective tissues disorders Rheumatological disorders Aplasia cutis congenita, reticulolinear, with mmicrocephaly, facial dysmorphism and other congenital anomalies, 300887 False 1 0;0;100 3.11 False ENSG00000131174 ENSG00000131174 HGNC:2291 FLCN gene FLCN Emory Genetics Laboratory;Expert Review Red Ehlers Danlos syndrome with a likely monogenic cause Connective tissues disorders Rheumatological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pneumothorax, primary spontaneous, 173600;Connective Tissue Disorders 15657874;17496196;20413710;21550484;19483054;15852235;15805188 False 1 0;0;100 3.11 False ENSG00000154803 ENSG00000154803 HGNC:27310 FLNA gene FLNA Emory Genetics Laboratory;Expert list Ehlers Danlos syndrome with a likely monogenic cause Connective tissues disorders Rheumatological disorders Cardiac valvular dysplasia, X-linked, OMIM:314400;Heterotopia, periventricular, 1, OMIM:300049 28306229 False 1 50;0;50 3.11 False ENSG00000196924 ENSG00000196924 HGNC:3754 MYH11 gene MYH11 Emory Genetics Laboratory;Expert list Ehlers Danlos syndrome with a likely monogenic cause Connective tissues disorders Rheumatological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Aortic aneurysm, familial thoracic 4, 132900 False 1 67;0;33 3.11 False ENSG00000133392 ENSG00000133392 HGNC:7569 PLOD3 gene PLOD3 Expert Review Ehlers Danlos syndrome with a likely monogenic cause Connective tissues disorders Rheumatological disorders BIALLELIC, autosomal or pseudoautosomal Lysyl hydroxylase 3 deficiency, 612394 18834968 False 1 0;0;100 3.11 False ENSG00000106397 ENSG00000106397 HGNC:9083 SLC2A10 gene SLC2A10 Emory Genetics Laboratory;Expert list Ehlers Danlos syndrome with a likely monogenic cause Connective tissues disorders Rheumatological disorders BIALLELIC, autosomal or pseudoautosomal Arterial tortuosity syndrome, 208050;Connective Tissue Disorders, Cutis laxa False 1 67;0;33 3.11 False ENSG00000197496 ENSG00000197496 HGNC:13444 TPSAB1 gene TPSAB1 Expert Review;Literature Ehlers Danlos syndrome with a likely monogenic cause Connective tissues disorders Rheumatological disorders Unknown ?Mast cell dysfunction (with joint hypermobility) 27749843 False 1 0;0;100 3.11 False ENSG00000172236 ENSG00000172236 HGNC:12019