Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		1.000 Biomarker GENOMICS_ENGLAND Furthermore, we found that CHD7 can bind to the p53 promoter, thereby negatively regulating p53 expression, and that CHD7 loss in mouse neural crest cells or samples from patients with CHARGE syndrome results in p53 activation. 25119037

2014
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		1.000 Biomarker GENOMICS_ENGLAND We observed a CHARGE syndrome patient with chromodomain helicase DNA-binding protein 7 mutation showing DiGeorge sequence including the defect of T cells accompanied with the aplasia of the thymus, severe hypoparathyroidism, and conotruncal cardiac anomaly. 20052490

2010
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		1.000 Biomarker GENOMICS_ENGLAND We find that alterations in CHD7 can result in a very mild phenotype, characterized by only a few minor symptoms of the CHARGE syndrome clinical spectrum. 18074359

2008
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		1.000 Biomarker GENOMICS_ENGLAND We sequenced the CHD7 gene in 110 individuals who had received the clinical diagnosis of CHARGE syndrome, and we detected mutations in 64 (58%). 16400610

2006
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		1.000 Biomarker GENOMICS_ENGLAND We sequenced the CHD7 gene in 110 individuals who had received the clinical diagnosis of CHARGE syndrome, and we detected mutations in 64 (58%). 16400610

2006
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		1.000 Biomarker GENOMICS_ENGLAND The coding regions of CHD7 were screened for mutations in 107 index patients with clinical features suggestive of CHARGE syndrome. 16155193

2006