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: C0026650
Disease: Movement Disorders
Movement Disorders 		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: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency. 25472840

2014
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR CHD7 gene polymorphisms and familial idiopathic scoliosis. 23883829

2013
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		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: C0026650
Disease: Movement Disorders
Movement Disorders 		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: C0026650
Disease: Movement Disorders
Movement Disorders 		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: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR Mutation update on the CHD7 gene involved in CHARGE syndrome. 22461308

2012
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		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: C0026650
Disease: Movement Disorders
Movement Disorders 		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: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR CHD7 cooperates with PBAF to control multipotent neural crest formation. 20130577

2010
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome. 20186815

2010
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		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: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR CHARGE syndrome: an update. 17299439

2007
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability. 17661815

2007
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene. 16155193

2006
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. 16400610

2006
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR Updated diagnostic criteria for CHARGE syndrome: a proposal. 15666308

2005
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. 15300250

2004
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR Quantitative analysis of limb anomalies in CHARGE syndrome: correlation with diagnosis and characteristic CHARGE anomalies. 14626219

2003
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR CHARGE Association in newborns: a registry-based study. 10590394

1999