FRMD7, FERM domain containing 7, 90167

N. diseases: 31; N. variants: 13
Disease: Congenital Abnormality ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 GeneticVariation group BEFREE Optic nerve dysplasia associated with FRMD7 mutations suggests that the abnormal development of afferent visual systems may affect neural circuitry within the oculomotor system. 30025138 2018