NPRL3, NPR3 like, GATOR1 complex subunit, 8131

N. diseases: 37; N. variants: 45
Disease: Malformations of Cortical Development ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1955869
Disease: Malformations of Cortical Development
Malformations of Cortical Development 		0.010 GeneticVariation disease BEFREE Mutations in DEPDC5 and NPRL3 subunits of GATOR1, a modulator of mechanistic target of rapamycin (mTOR), are linked to malformations of cortical development (MCD). 29481864 2018