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: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.340 GeneticVariation group BEFREE We focus particularly on the gene Cecr2, which is studied using both a hypomorphic and a presumptive null mutation on two different backgrounds: one susceptible (BALB/c) and one resistant (FVB/N) to NTDs. 27768235 2017
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.340 GeneticVariation group BEFREE In mice with a mutation in Cecr2, the cranial NTD exencephaly shows strain-specific differences in penetrance, with 74% penetrance in BALB/cCrl and 0% penetrance in FVB/N. 22045912 2012
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.340 Biomarker group 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: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.340 GeneticVariation group BEFREE Modifier locus for exencephaly in Cecr2 mutant mice is syntenic to the 10q25.3 region associated with neural tube defects in humans. 17623803 2007
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.340 Biomarker group 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
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
CUI: C0011999
Disease: Diastematomyelia
Diastematomyelia 		0.300 Biomarker disease CTD_human CECR2, a protein involved in neurulation, forms a novel chromatin remodeling complex with SNF2L. 15640247 2005
CUI: C0027806
Disease: Neurenteric Cyst
Neurenteric Cyst 		0.300 Biomarker disease CTD_human CECR2, a protein involved in neurulation, forms a novel chromatin remodeling complex with SNF2L. 15640247 2005
CUI: C0080218
Disease: Tethered Cord Syndrome
Tethered Cord Syndrome 		0.300 Biomarker disease CTD_human CECR2, a protein involved in neurulation, forms a novel chromatin remodeling complex with SNF2L. 15640247 2005
CUI: C0152234
Disease: Iniencephaly
Iniencephaly 		0.300 Biomarker disease CTD_human CECR2, a protein involved in neurulation, forms a novel chromatin remodeling complex with SNF2L. 15640247 2005
CUI: C0152426
Disease: Craniorachischisis
Craniorachischisis 		0.300 Biomarker disease CTD_human CECR2, a protein involved in neurulation, forms a novel chromatin remodeling complex with SNF2L. 15640247 2005
CUI: C0344479
Disease: Spinal Cord Myelodysplasia
Spinal Cord Myelodysplasia 		0.300 Biomarker disease CTD_human CECR2, a protein involved in neurulation, forms a novel chromatin remodeling complex with SNF2L. 15640247 2005
CUI: C0702169
Disease: Acrania
Acrania 		0.300 Biomarker disease CTD_human CECR2, a protein involved in neurulation, forms a novel chromatin remodeling complex with SNF2L. 15640247 2005
CUI: C0002902
Disease: Anencephaly
Anencephaly 		0.200 Biomarker disease MGD Strain-specific modifier genes of Cecr2-associated exencephaly in mice: genetic analysis and identification of differentially expressed candidate genes. 22045912 2012
CUI: C0002902
Disease: Anencephaly
Anencephaly 		0.200 Biomarker disease MGD CECR2, a protein involved in neurulation, forms a novel chromatin remodeling complex with SNF2L. 15640247 2005
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.100 GeneticVariation disease GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		0.010 GeneticVariation disease BEFREE FISH studies using 4 locus-specific DNA probes in the 22q11.2 region (N25 probe to detect the D22S75 locus within the velocardiofacial syndrome/DiGeorge syndrome (VCFS/DGS) critical region, a clone to detect the Bid locus just distal to the cat eye syndrome (CES) critical region and two clones 77H2 and 109L3 to detect the proximal end of the CES critical region, (CECR2 and CECR7), did not reveal any hybridization signal with the marker chromosome. 16915592 2006
CUI: C0265493
Disease: Cat eye syndrome
Cat eye syndrome 		0.010 GeneticVariation disease BEFREE FISH studies using 4 locus-specific DNA probes in the 22q11.2 region (N25 probe to detect the D22S75 locus within the velocardiofacial syndrome/DiGeorge syndrome (VCFS/DGS) critical region, a clone to detect the Bid locus just distal to the cat eye syndrome (CES) critical region and two clones 77H2 and 109L3 to detect the proximal end of the CES critical region, (CECR2 and CECR7), did not reveal any hybridization signal with the marker chromosome. 16915592 2006
CUI: C1321551
Disease: Shprintzen-Goldberg syndrome
Shprintzen-Goldberg syndrome 		0.010 GeneticVariation disease BEFREE FISH studies using 4 locus-specific DNA probes in the 22q11.2 region (N25 probe to detect the D22S75 locus within the velocardiofacial syndrome/DiGeorge syndrome (VCFS/DGS) critical region, a clone to detect the Bid locus just distal to the cat eye syndrome (CES) critical region and two clones 77H2 and 109L3 to detect the proximal end of the CES critical region, (CECR2 and CECR7), did not reveal any hybridization signal with the marker chromosome. 16915592 2006