FOLR1, folate receptor alpha, 2348

N. diseases: 174; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266453
Disease: Exencephaly
Exencephaly
0.310 Biomarker disease BEFREE Mutations in folate-pathway genes do not cause NTDs, except for 30% exencephaly in folate-treated Folr1. 19117321 2009
CUI: C0266453
Disease: Exencephaly
Exencephaly
0.310 Biomarker disease CTD_human Role of Folbp1 in the regional regulation of apoptosis and cell proliferation in the developing neural tube and craniofacies. 15800851 2005