CCND2, cyclin D2, 894

N. diseases: 241; N. variants: 15
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 A Novel CCND2 Mutation in a Previously Reported Case of Megalencephaly and Perisylvian Polymicrogyria with Postaxial Polydactyly and Hydrocephalus. 29642246 2018
CUI: C1863924
Disease: Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome
Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome 		0.500 GermlineCausalMutation disease ORPHANET De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. 24705253 2014
CUI: C1863924
Disease: Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome
Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome 		0.500 Biomarker disease CTD_human De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. 24705253 2014