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: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria. 26590800

2016
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria. 26590800

2016
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. 25356970

2015
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency. 25472840

2014
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency. 25472840

2014
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR CHD7 gene polymorphisms and familial idiopathic scoliosis. 23883829

2013
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing. 23849776

2013
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing. 23849776

2013
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR CHD7 gene polymorphisms and familial idiopathic scoliosis. 23883829

2013
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Mutation update on the CHD7 gene involved in CHARGE syndrome. 22461308

2012
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Mutation update on the CHD7 gene involved in CHARGE syndrome. 22461308

2012
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. 22495309

2012
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome. 22539353

2012
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome. 22539353

2012
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. 22495309

2012
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype. 21378379

2011
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Sox2 cooperates with Chd7 to regulate genes that are mutated in human syndromes. 21532573

2011
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 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: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype. 21378379

2011
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome. 20186815

2010
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR CHD7 cooperates with PBAF to control multipotent neural crest formation. 20130577

2010
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome. 20186815

2010
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR CHD7 cooperates with PBAF to control multipotent neural crest formation. 20130577

2010
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 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: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. 18834967

2008