Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 158326
Gene Symbol: FREM1
FREM1
CUI: C0542519
Disease: Congenital absence of kidney
Congenital absence of kidney
0.010 Biomarker BEFREE Mutations in genes encoding Fras1, Frem1 and Frem2 are causative for dermal-epidermal detachment in the plane of sublamina densa and have been identified in different classes of mouse bleb mutants, the murine model of human Fraser syndrome, the hallmark phenotypic characteristics of which are embryonic skin blistering, cryptophthalmos and renal agenesis. 21182980

2011