Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 GeneticVariation CLINVAR Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability. 17661815

2007
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR CHARGE syndrome: an update. 17299439

2007
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability. 17661815

2007
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 GeneticVariation CLINVAR CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene. 16155193

2006
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene. 16155193

2006
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 GeneticVariation CLINVAR Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. 16400610

2006
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. 16400610

2006
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR Updated diagnostic criteria for CHARGE syndrome: a proposal. 15666308

2005
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 GeneticVariation CLINVAR Updated diagnostic criteria for CHARGE syndrome: a proposal. 15666308

2005
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 GeneticVariation CLINVAR Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. 15300250

2004
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. 15300250

2004
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR Quantitative analysis of limb anomalies in CHARGE syndrome: correlation with diagnosis and characteristic CHARGE anomalies. 14626219

2003
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 GeneticVariation CLINVAR Quantitative analysis of limb anomalies in CHARGE syndrome: correlation with diagnosis and characteristic CHARGE anomalies. 14626219

2003
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 GeneticVariation CLINVAR CHARGE Association in newborns: a registry-based study. 10590394

1999
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR CHARGE Association in newborns: a registry-based study. 10590394

1999