This gene is also linked to ‘Premature delivery because of cervical insufficiency or membrane fragility’ (HP:0005267), as are the genes ZMPSTE24 and LMNA. Further, COL5A1 is the only gene associated with ‘Premature birth following premature rupture of fetal membranes’ (HP:0005100) and ‘Premature rupture of membranes’ (HP:0001788), with a few other genes (PLOD1, ADAMTS2, SERPINH1, ZMPSTE24, LMNA, and ATP6V0A2) associated with PPROM alone. Here, SERPINH1 is linked to preterm premature rupture of the membranes.