COL1A1, collagen type I alpha 1 chain, 1277

N. diseases: 487; N. variants: 337
Disease: Hypermobility syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0152093
Disease: Hypermobility syndrome
Hypermobility syndrome 		0.010 GeneticVariation disease BEFREE COL1A1 Mutations Presenting as Descending Perineum Syndrome in a Young Patient With Hypermobility Syndrome. 29502568 2018