NPRL2, NPR2 like, GATOR1 complex subunit, 10641

N. diseases: 45; N. variants: 6
Disease: Seizures ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036572
Disease: Seizures
Seizures 		0.120 Biomarker phenotype 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
CUI: C0036572
Disease: Seizures
Seizures 		0.120 Biomarker phenotype BEFREE The involvement of DEPDC5, NPRL2 and NRPL3 in about 10% of FEs is in contrast to the concept that specific seizure semiology points to the main involvement of a distinct brain area. 27208208 2016
CUI: C0036572
Disease: Seizures
Seizures 		0.120 Biomarker phenotype HPO