Additionally, each variant was associated with a disease, such as Hereditary Hemorrhagic Telangiectasia (HHT2 [MIM: 600376]) [103–110], Stickler Syndrome(STL1 [MIM: 108300]) [111–115], Optic Atrophy 1 (OPA1 [MIM: 165500]) [116, 117], Marfan Syndrome (MFS [MIM: 154700]) [118, 119], Retinoblastoma (RB1 [MIM: 180200]) [120, 121], and Neurofibromatosis type 1 (NF1 [MIM: 162200]) [122, 123]. Here, COL2A1 is linked to telangiectasia, hereditary hemorrhagic, type 2.