Gene: CHD7 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		0.100 GeneticVariation group 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 		0.100 CausalMutation group 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 		0.100 CausalMutation group 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 		0.100 GeneticVariation group CLINVAR Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency. 25472840 2014
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		0.100 CausalMutation group CLINVAR Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency. 25472840 2014
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		0.100 GeneticVariation group CLINVAR CHD7 gene polymorphisms and familial idiopathic scoliosis. 23883829 2013
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		0.100 CausalMutation group CLINVAR Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing. 23849776 2013
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		0.100 GeneticVariation group CLINVAR Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing. 23849776 2013
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		0.100 CausalMutation group CLINVAR CHD7 gene polymorphisms and familial idiopathic scoliosis. 23883829 2013
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		0.100 GeneticVariation group CLINVAR Mutation update on the CHD7 gene involved in CHARGE syndrome. 22461308 2012
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		0.100 CausalMutation group CLINVAR Mutation update on the CHD7 gene involved in CHARGE syndrome. 22461308 2012
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		0.100 GeneticVariation group CLINVAR Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. 22495309 2012
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		0.100 GeneticVariation group 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 		0.100 CausalMutation group 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 		0.100 CausalMutation group CLINVAR Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. 22495309 2012
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		0.100 CausalMutation group CLINVAR CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype. 21378379 2011
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		0.100 CausalMutation group CLINVAR Sox2 cooperates with Chd7 to regulate genes that are mutated in human syndromes. 21532573 2011
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		0.100 GeneticVariation group CLINVAR Sox2 cooperates with Chd7 to regulate genes that are mutated in human syndromes. 21532573 2011
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		0.100 GeneticVariation group CLINVAR CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype. 21378379 2011
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		0.100 GeneticVariation group CLINVAR Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome. 20186815 2010
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		0.100 GeneticVariation group CLINVAR CHD7 cooperates with PBAF to control multipotent neural crest formation. 20130577 2010
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		0.100 CausalMutation group CLINVAR Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome. 20186815 2010
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		0.100 CausalMutation group CLINVAR CHD7 cooperates with PBAF to control multipotent neural crest formation. 20130577 2010
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		0.100 CausalMutation group 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 		0.100 GeneticVariation group CLINVAR Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. 18834967 2008