Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 894
Gene Symbol: CCND2
CCND2 		0.500 Biomarker disease CTD_human A Novel CCND2 Mutation in a Previously Reported Case of Megalencephaly and Perisylvian Polymicrogyria with Postaxial Polydactyly and Hydrocephalus. 29642246 2018
Entrez Id: 5296
Gene Symbol: PIK3R2
PIK3R2 		0.500 SomaticCausalMutation disease ORPHANET Constitutional and mosaic mutations in the PIK3R2 gene are associated with developmental brain disorders ranging from BPP with a normal head size to the MPPH syndrome. 26520804 2015
Entrez Id: 894
Gene Symbol: CCND2
CCND2 		0.500 GermlineCausalMutation disease ORPHANET De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. 24705253 2014
Entrez Id: 894
Gene Symbol: CCND2
CCND2 		0.500 Biomarker disease CTD_human De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. 24705253 2014
Entrez Id: 5296
Gene Symbol: PIK3R2
PIK3R2 		0.500 GermlineCausalMutation disease ORPHANET De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. 22729224 2012
Entrez Id: 10000
Gene Symbol: AKT3
AKT3 		0.500 Biomarker disease CTD_human De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. 22729224 2012
Entrez Id: 10000
Gene Symbol: AKT3
AKT3 		0.500 GermlineCausalMutation disease ORPHANET De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. 22729224 2012
Entrez Id: 5296
Gene Symbol: PIK3R2
PIK3R2 		0.500 Biomarker disease CTD_human De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. 22729224 2012
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA 		0.300 Biomarker disease CTD_human De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. 22729224 2012
Entrez Id: 64324
Gene Symbol: NSD1
NSD1 		0.010 GeneticVariation disease BEFREE We observed two first cousins affected by an MPPH-like phenotype with a submicroscopic chromosome 5q35 deletion as a result of an unbalanced der(5)t(5;20)(q35.2;q13.3) translocation, including the NSD1 Sotos syndrome locus. 20503325 2010
Entrez Id: 4163
Gene Symbol: MCC
MCC 		0.010 GeneticVariation disease BEFREE The syndrome of megalencephaly, mega corpus callosum and complete lack of motor development (MCC; OMIM 603387) is an apparently rare condition since only three sporadic cases have been reported [Gohlich-Ratmann et al.(1998); Am J Med Genet 79:161-167]. 18076119 2008