Entrez Id: |
55636 |
Gene Symbol: |
CHD7 |
CHD7
|
Dysmorphic features
|
0.110 |
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
|
Dysmorphic features
|
0.110 |
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
|
Dysmorphic features
|
0.110 |
GeneticVariation |
CLINVAR |
Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency.
|
25472840 |
2014 |
Entrez Id: |
55636 |
Gene Symbol: |
CHD7 |
CHD7
|
Dysmorphic features
|
0.110 |
CausalMutation |
CLINVAR |
Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency.
|
25472840 |
2014 |
Entrez Id: |
55636 |
Gene Symbol: |
CHD7 |
CHD7
|
Dysmorphic features
|
0.110 |
CausalMutation |
CLINVAR |
CHD7 gene polymorphisms and familial idiopathic scoliosis.
|
23883829 |
2013 |
Entrez Id: |
55636 |
Gene Symbol: |
CHD7 |
CHD7
|
Dysmorphic features
|
0.110 |
GeneticVariation |
CLINVAR |
CHD7 gene polymorphisms and familial idiopathic scoliosis.
|
23883829 |
2013 |
Entrez Id: |
55636 |
Gene Symbol: |
CHD7 |
CHD7
|
Dysmorphic features
|
0.110 |
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
|
Dysmorphic features
|
0.110 |
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
|
Dysmorphic features
|
0.110 |
CausalMutation |
CLINVAR |
Mutation update on the CHD7 gene involved in CHARGE syndrome.
|
22461308 |
2012 |
Entrez Id: |
55636 |
Gene Symbol: |
CHD7 |
CHD7
|
Dysmorphic features
|
0.110 |
GeneticVariation |
CLINVAR |
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
|
22495309 |
2012 |
Entrez Id: |
55636 |
Gene Symbol: |
CHD7 |
CHD7
|
Dysmorphic features
|
0.110 |
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
|
Dysmorphic features
|
0.110 |
GeneticVariation |
CLINVAR |
Mutation update on the CHD7 gene involved in CHARGE syndrome.
|
22461308 |
2012 |
Entrez Id: |
55636 |
Gene Symbol: |
CHD7 |
CHD7
|
Dysmorphic features
|
0.110 |
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
|
Dysmorphic features
|
0.110 |
CausalMutation |
CLINVAR |
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
|
22495309 |
2012 |
Entrez Id: |
55636 |
Gene Symbol: |
CHD7 |
CHD7
|
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
|
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
|
Dysmorphic features
|
0.110 |
CausalMutation |
CLINVAR |
CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype.
|
21378379 |
2011 |
Entrez Id: |
55636 |
Gene Symbol: |
CHD7 |
CHD7
|
Dysmorphic features
|
0.110 |
CausalMutation |
CLINVAR |
Sox2 cooperates with Chd7 to regulate genes that are mutated in human syndromes.
|
21532573 |
2011 |
Entrez Id: |
55636 |
Gene Symbol: |
CHD7 |
CHD7
|
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
|
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
|
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
|
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
|
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
|
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
|
Dysmorphic features
|
0.110 |
GeneticVariation |
CLINVAR |
CHARGE syndrome: an update.
|
17299439 |
2007 |