Disease: Malformations of Cortical Development ×
Source: BEFREE ×
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 		0.030 GeneticVariation disease BEFREE Genetic causes were identified from blood in 19 (23.5%) patients with malformations of cortical development; 14 patients had pathogenic or likely pathogenic single-nucleotide variants in seven genes, including DCX (n = 5), DEPDC5 (n = 2), PAFAH1B1 (n = 3), TUBA1A (n = 1), TUBA8 (n = 1), TUBB2B (n = 1), and TUBB3 (n = 1). 31481326 2019
CUI: C1955869
Disease: Malformations of Cortical Development
Malformations of Cortical Development 		0.030 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
CUI: C1955869
Disease: Malformations of Cortical Development
Malformations of Cortical Development 		0.030 GeneticVariation disease BEFREE As DEPDC5 is a negative regulator of the mammalian target of rapamycin (mTOR) pathway, it is likely that some patients with DEPDC5 mutations may have malformations of cortical development akin to the two-hit hypothesis suggested in tuberous sclerosis. 24615646 2014