×
Entrez Id:
55636
Gene Symbol:
CHD7
CHD7
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
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
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
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
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
Multiple congenital anomalies
0.100
GeneticVariation
CLINVAR
CHD7 gene polymorphisms and familial idiopathic scoliosis.
23883829
2013
×
Entrez Id:
55636
Gene Symbol:
CHD7
CHD7
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
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
Multiple congenital anomalies
0.100
CausalMutation
CLINVAR
CHD7 gene polymorphisms and familial idiopathic scoliosis.
23883829
2013
×
Entrez Id:
55636
Gene Symbol:
CHD7
CHD7
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
Multiple congenital anomalies
0.100
GeneticVariation
CLINVAR
Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.
18834967
2008