AKT3, AKT serine/threonine kinase 3, 10000

N. diseases: 183; N. variants: 21
Disease: Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1863924
Disease: Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome
Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome 		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
CUI: C1863924
Disease: Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome
Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome 		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