Disease: Other deletions of part of a chromosome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0478099
Disease: Other deletions of part of a chromosome
Other deletions of part of a chromosome 		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: C0478099
Disease: Other deletions of part of a chromosome
Other deletions of part of a chromosome 		0.200 Biomarker disease MGD Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1. 21507892 2011
CUI: C0478099
Disease: Other deletions of part of a chromosome
Other deletions of part of a chromosome 		0.200 Biomarker disease MGD The extracellular matrix gene Frem1 is essential for the normal adhesion of the embryonic epidermis. 15345741 2004