CCND2, cyclin D2, 894

N. diseases: 241; N. variants: 15
Disease: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777618
rs587777618
Entrez Id: 894
Gene Symbol: CCND2
CCND2
CUI: C4014742
Disease:
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3 		0.800 GeneticVariation UNIPROT De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. 24705253 2014
dbSNP: rs587777618
rs587777618
Entrez Id: 894
Gene Symbol: CCND2
CCND2
CUI: C4014742
Disease:
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3 		G 0.800 CausalMutation CLINVAR