Source: ANIMAL_MODELS

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 158326
Gene Symbol: FREM1
FREM1
CUI: C0265425
Disease: 9p partial monosomy syndrome
9p partial monosomy syndrome 		0.200 Biomarker MGD Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice. 21931569

2011
Entrez Id: 158326
Gene Symbol: FREM1
FREM1
CUI: C0265425
Disease: 9p partial monosomy syndrome
9p partial monosomy syndrome 		0.200 Biomarker MGD Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1. 21507892

2011
Entrez Id: 158326
Gene Symbol: FREM1
FREM1
CUI: C0265425
Disease: 9p partial monosomy syndrome
9p partial monosomy syndrome 		0.200 Biomarker MGD The extracellular matrix gene Frem1 is essential for the normal adhesion of the embryonic epidermis. 15345741

2004