CECR2, CECR2 histone acetyl-lysine reader, 27443

N. diseases: 15; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266453
Disease: Exencephaly
Exencephaly
0.330 GeneticVariation disease BEFREE Strain-specific modifier genes of Cecr2-associated exencephaly in mice: genetic analysis and identification of differentially expressed candidate genes. 22045912 2012
CUI: C0266453
Disease: Exencephaly
Exencephaly
0.330 Biomarker disease BEFREE The loss of Cecr2, which encodes a chromatin remodeling protein, has been associated with the neural tube defect (NTD) exencephaly and open eyelids in mice. 21246654 2011
CUI: C0266453
Disease: Exencephaly
Exencephaly
0.330 GeneticVariation disease BEFREE We previously reported that a homozygous Cecr2 mutation on a BALB/c background causes exencephaly at a frequency of 74% compared with 0% on an FVB/N background. 17623803 2007
CUI: C0266453
Disease: Exencephaly
Exencephaly
0.330 Biomarker disease CTD_human Mice homozygous for the Cecr2 genetrap-induced mutation show a high penetrance of the neural tube defect exencephaly, the human equivalent of anencephaly, in a strain-dependent fashion. 15640247 2005