COL3A1 was the only gene with an established gene-phenotype role as shown through HPO term ‘Cervical insufficiency’ (HP:0030009) along with ‘Premature delivery because of cervical insufficiency or membrane fragility’ (HP:0005267), ‘Uterine rupture’ (HP:0100718), and ‘Uterine prolapse’ (HP:0000139), and is known to cause EDS, vascular type (OMIM:130050). Here, COL3A1 is linked to Ehlers-Danlos syndrome.