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 		0.110 Biomarker disease BEFREE CHD7 should be considered in patients presenting in childhood with stable scapular winging, particularly if accompanied by dysmorphic features and balance difficulties. 26813943 2016
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		0.110 CausalMutation disease 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 		0.110 GeneticVariation disease 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 		0.110 GeneticVariation disease CLINVAR Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency. 25472840 2014
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		0.110 CausalMutation disease CLINVAR Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency. 25472840 2014
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		0.110 CausalMutation disease CLINVAR CHD7 gene polymorphisms and familial idiopathic scoliosis. 23883829 2013
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		0.110 GeneticVariation disease CLINVAR CHD7 gene polymorphisms and familial idiopathic scoliosis. 23883829 2013
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		0.110 GeneticVariation disease CLINVAR Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing. 23849776 2013
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		0.110 CausalMutation disease CLINVAR Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing. 23849776 2013
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		0.110 CausalMutation disease CLINVAR Mutation update on the CHD7 gene involved in CHARGE syndrome. 22461308 2012
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		0.110 GeneticVariation disease CLINVAR Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. 22495309 2012
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		0.110 GeneticVariation disease 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 		0.110 GeneticVariation disease CLINVAR Mutation update on the CHD7 gene involved in CHARGE syndrome. 22461308 2012
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		0.110 CausalMutation disease 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 		0.110 CausalMutation disease CLINVAR Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. 22495309 2012
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		0.110 GeneticVariation disease CLINVAR CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype. 21378379 2011
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		0.110 GeneticVariation disease CLINVAR Sox2 cooperates with Chd7 to regulate genes that are mutated in human syndromes. 21532573 2011
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		0.110 CausalMutation disease CLINVAR CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype. 21378379 2011
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		0.110 CausalMutation disease CLINVAR Sox2 cooperates with Chd7 to regulate genes that are mutated in human syndromes. 21532573 2011
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		0.110 GeneticVariation disease CLINVAR Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome. 20186815 2010
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		0.110 GeneticVariation disease CLINVAR CHD7 cooperates with PBAF to control multipotent neural crest formation. 20130577 2010
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		0.110 CausalMutation disease CLINVAR Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome. 20186815 2010
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		0.110 CausalMutation disease CLINVAR CHD7 cooperates with PBAF to control multipotent neural crest formation. 20130577 2010
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		0.110 CausalMutation disease 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 		0.110 GeneticVariation disease CLINVAR Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. 18834967 2008