Disease: 9p partial monosomy syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265425
Disease: 9p partial monosomy syndrome
9p partial monosomy syndrome 		0.200 Biomarker disease MGD Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice. 21931569 2011
CUI: C0265425
Disease: 9p partial monosomy syndrome
9p partial monosomy syndrome 		0.200 Biomarker disease MGD Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1. 21507892 2011
CUI: C0265425
Disease: 9p partial monosomy syndrome
9p partial monosomy syndrome 		0.200 Biomarker disease MGD The extracellular matrix gene Frem1 is essential for the normal adhesion of the embryonic epidermis. 15345741 2004