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 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

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 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 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 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 GeneticVariation CLINVAR CHARGE syndrome: an update. 17299439

2007

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 CausalMutation CLINVAR Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. 18834967

2008

Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.110 GeneticVariation CLINVAR Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. 18834967

2008

Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.110 GeneticVariation CLINVAR Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome. 20186815

2010

Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.110 GeneticVariation CLINVAR CHD7 cooperates with PBAF to control multipotent neural crest formation. 20130577

2010

Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.110 CausalMutation CLINVAR Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome. 20186815

2010

Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.110 CausalMutation CLINVAR CHD7 cooperates with PBAF to control multipotent neural crest formation. 20130577

2010

Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.110 GeneticVariation CLINVAR CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype. 21378379

2011

Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.110 GeneticVariation CLINVAR Sox2 cooperates with Chd7 to regulate genes that are mutated in human syndromes. 21532573

2011

Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.110 CausalMutation CLINVAR CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype. 21378379

2011