Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1055
Gene Symbol: CECR
CECR
0.310 Biomarker disease CTD_human Phenotypic variability of the cat eye syndrome. Case report and review of the literature. 11693792 2001
Entrez Id: 1055
Gene Symbol: CECR
CECR
0.310 Biomarker disease BEFREE A patient with several features consistent with duplication of 22q11.2 (cat eye syndrome or CES) was found to be mosaic for a dicentric double ring chromosome 22 on postnatal karyotyping of peripheral blood. 10204853 1999
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
0.060 GeneticVariation disease BEFREE MLPA revealed a deletion in 22q11.1q11.2 spanning from the cat eye syndrome region to the most commonly deleted region in DGS/VCFS patients. 30799418 2019
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
0.060 Biomarker disease BEFREE Chromosomal region 22q11 is well known for its susceptibility to genomic rearrangements, and these are associated with various syndromes including the velo-cardio-facial/DiGeorge syndrome (VCFS/DGS), the der(22) syndrome, and the cat-eye syndrome. 20060941 2010
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
0.060 Biomarker disease BEFREE These include the 3-Mb region commonly deleted in DiGeorge/velocardiofacial syndrome (DGS/VCFS), the cat eye syndrome (CES) region, and more distal regions in 22q11 that have recently been shown to be deleted. 18033723 2008
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
0.060 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
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
0.060 Biomarker disease BEFREE We have identified and characterized a novel human gene, located within the 1.5-Mb region deleted in VCFS/DGS, trisomic in der(22) syndrome and tetrasomic in CES. 11350118 2001
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
0.060 GeneticVariation disease BEFREE We hypothesize that an inter-chromosomal recombination between inverted repeats, together with a recombination between sister chromatids during meiosis I, gave rise to a deletion of 22q11 as well as an inv dup(22) containing the DGS region. 11039583 2000
Entrez Id: 1714
Gene Symbol: DGCR
DGCR
0.050 GeneticVariation disease BEFREE MLPA revealed a deletion in 22q11.1q11.2 spanning from the cat eye syndrome region to the most commonly deleted region in DGS/VCFS patients. 30799418 2019
Entrez Id: 1714
Gene Symbol: DGCR
DGCR
0.050 Biomarker disease BEFREE Chromosomal region 22q11 is well known for its susceptibility to genomic rearrangements, and these are associated with various syndromes including the velo-cardio-facial/DiGeorge syndrome (VCFS/DGS), the der(22) syndrome, and the cat-eye syndrome. 20060941 2010
Entrez Id: 1714
Gene Symbol: DGCR
DGCR
0.050 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
Entrez Id: 1714
Gene Symbol: DGCR
DGCR
0.050 Biomarker disease BEFREE We have identified and characterized a novel human gene, located within the 1.5-Mb region deleted in VCFS/DGS, trisomic in der(22) syndrome and tetrasomic in CES. 11350118 2001
Entrez Id: 1714
Gene Symbol: DGCR
DGCR
0.050 GeneticVariation disease BEFREE We hypothesize that an inter-chromosomal recombination between inverted repeats, together with a recombination between sister chromatids during meiosis I, gave rise to a deletion of 22q11 as well as an inv dup(22) containing the DGS region. 11039583 2000
Entrez Id: 51816
Gene Symbol: ADA2
ADA2
0.030 GeneticVariation disease BEFREE The SALSA MLPA P250-B1 DiGeorge Probemix showed duplication of gene dosage in the CES region. aCGH showed a 1.26-Mb duplication at 22q11.1-q11.21 encompassing CECR1-CECR7. 23747353 2013
Entrez Id: 51816
Gene Symbol: ADA2
ADA2
0.030 Biomarker disease BEFREE Absent from the mouse region of conserved synteny are CECR1, a promising CES candidate gene from the center of the contig, neighboring CECR4, and CECR7 and CECR8, which are located in the gene-poor proximal 400 kb of the contig. 11381032 2001
Entrez Id: 51816
Gene Symbol: ADA2
ADA2
0.030 AlteredExpression disease BEFREE The location of this gene in the CES critical region and its embryonic expression suggest that the overexpression of CECR1 may be responsible for at least some features of CES, particularly the heart defects. 10756095 2000
Entrez Id: 100130418
Gene Symbol: CECR7
CECR7
0.020 GeneticVariation disease BEFREE The SALSA MLPA P250-B1 DiGeorge Probemix showed duplication of gene dosage in the CES region. aCGH showed a 1.26-Mb duplication at 22q11.1-q11.21 encompassing CECR1-CECR7. 23747353 2013
Entrez Id: 529
Gene Symbol: ATP6V1E1
ATP6V1E1
0.020 Biomarker disease BEFREE This finding suggests that amplification of the genes CECR2, SLC25A18 and ATP6V1E1, mapping within the critical region for CES, may be responsible for anorectal, renal and preauricular anomalies in patients with CES. 22395867 2012
Entrez Id: 100130418
Gene Symbol: CECR7
CECR7
0.020 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
Entrez Id: 529
Gene Symbol: ATP6V1E1
ATP6V1E1
0.020 Biomarker disease BEFREE Fourteen putative genes were identified within or adjacent to the human CES critical region (CESCR), including three known genes (IL-17R, ATP6E, and BID) and nine novel genes, based on EST identity. 11381032 2001
Entrez Id: 637
Gene Symbol: BID
BID
0.020 Biomarker disease BEFREE Fourteen putative genes were identified within or adjacent to the human CES critical region (CESCR), including three known genes (IL-17R, ATP6E, and BID) and nine novel genes, based on EST identity. 11381032 2001
Entrez Id: 637
Gene Symbol: BID
BID
0.020 Biomarker disease BEFREE However, BID remains a good candidate for involvement in CES-related mental impairment, and its overexpression may subtly add to the phenotype of CES patients. 9721221 1998
Entrez Id: 1103
Gene Symbol: CHAT
CHAT
0.010 AlteredExpression disease BEFREE (3) CES significantly upregulated the expression of CHAT, nNOS and TH protein in colon of PD rats. 31220524 2019
Entrez Id: 4088
Gene Symbol: SMAD3
SMAD3
0.010 Biomarker disease BEFREE The gene expression of TGF-βRII, Smad2, Smad3 and Smad7 are all enhanced (<i>p</i><0.05) in CES-treated M2 macrophages, which is detected by RT-PCR. 29089751 2017
Entrez Id: 7124
Gene Symbol: TNF
TNF
0.010 AlteredExpression disease BEFREE Further, the TNF-α and NF-κB mRNA expressions in the CES-treated pancreas were down-regulated at a dose-dependent manner, while insulin mRNA was elevated. 28694207 2017