NPRL2, NPR2 like, GATOR1 complex subunit, 10641

N. diseases: 45; N. variants: 6
Disease: Fleck corneal dystrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1562113
Disease: Fleck corneal dystrophy
Fleck corneal dystrophy 		0.020 Biomarker disease BEFREE Mutations in the GAP activity toward RAGs 1 (GATOR1) complex genes (DEPDC5, NPRL2 and NPRL3) have been associated with focal epilepsy and focal cortical dysplasia (FCD). 31639411 2020
CUI: C1562113
Disease: Fleck corneal dystrophy
Fleck corneal dystrophy 		0.020 Biomarker disease BEFREE Recent studies have demonstrated that the GATOR1 protein complex, comprised of DEPDC5, NPRL3, and NPRL2, plays a pivotal role in regulating mTOR signaling in response to cellular amino acid levels and that mutations in DEPDC5, NPRL3, or NPRL2 are linked to FCD, HME, and seizures. 31625153 2019