Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1064793083
rs1064793083
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0000772
Disease:
Multiple congenital anomalies
T 0.700 CausalMutation CLINVAR Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria. 26590800 2016
dbSNP: rs1064793083
rs1064793083
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0000772
Disease:
Multiple congenital anomalies
T 0.700 CausalMutation CLINVAR Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency. 25472840 2014
dbSNP: rs1064793083
rs1064793083
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0000772
Disease:
Multiple congenital anomalies
T 0.700 CausalMutation CLINVAR CHD7 gene polymorphisms and familial idiopathic scoliosis. 23883829 2013
dbSNP: rs1064793083
rs1064793083
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0000772
Disease:
Multiple congenital anomalies
T 0.700 CausalMutation CLINVAR Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing. 23849776 2013
dbSNP: rs1064793083
rs1064793083
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0000772
Disease:
Multiple congenital anomalies
T 0.700 CausalMutation CLINVAR Mutation update on the CHD7 gene involved in CHARGE syndrome. 22461308 2012
dbSNP: rs1064793083
rs1064793083
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0000772
Disease:
Multiple congenital anomalies
T 0.700 CausalMutation CLINVAR A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome. 22539353 2012
dbSNP: rs1064793083
rs1064793083
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0000772
Disease:
Multiple congenital anomalies
T 0.700 CausalMutation CLINVAR Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. 22495309 2012
dbSNP: rs1064793083
rs1064793083
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0000772
Disease:
Multiple congenital anomalies
T 0.700 CausalMutation CLINVAR Sox2 cooperates with Chd7 to regulate genes that are mutated in human syndromes. 21532573 2011
dbSNP: rs1064793083
rs1064793083
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0000772
Disease:
Multiple congenital anomalies
T 0.700 CausalMutation CLINVAR CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype. 21378379 2011
dbSNP: rs1064793083
rs1064793083
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0000772
Disease:
Multiple congenital anomalies
T 0.700 CausalMutation CLINVAR CHD7 cooperates with PBAF to control multipotent neural crest formation. 20130577 2010
dbSNP: rs1064793083
rs1064793083
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0000772
Disease:
Multiple congenital anomalies
T 0.700 CausalMutation CLINVAR Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome. 20186815 2010
dbSNP: rs1064793083
rs1064793083
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0000772
Disease:
Multiple congenital anomalies
T 0.700 CausalMutation CLINVAR Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. 18834967 2008
dbSNP: rs1064793083
rs1064793083
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0000772
Disease:
Multiple congenital anomalies
T 0.700 CausalMutation CLINVAR Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability. 17661815 2007
dbSNP: rs1064793083
rs1064793083
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0000772
Disease:
Multiple congenital anomalies
T 0.700 CausalMutation CLINVAR CHARGE syndrome: an update. 17299439 2007
dbSNP: rs1064793083
rs1064793083
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0000772
Disease:
Multiple congenital anomalies
T 0.700 CausalMutation CLINVAR CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene. 16155193 2006
dbSNP: rs1064793083
rs1064793083
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0000772
Disease:
Multiple congenital anomalies
T 0.700 CausalMutation CLINVAR Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. 16400610 2006
dbSNP: rs1064793083
rs1064793083
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0000772
Disease:
Multiple congenital anomalies
T 0.700 CausalMutation CLINVAR Updated diagnostic criteria for CHARGE syndrome: a proposal. 15666308 2005
dbSNP: rs1064793083
rs1064793083
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0000772
Disease:
Multiple congenital anomalies
T 0.700 CausalMutation CLINVAR Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. 15300250 2004
dbSNP: rs1064793083
rs1064793083
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0000772
Disease:
Multiple congenital anomalies
T 0.700 CausalMutation CLINVAR Quantitative analysis of limb anomalies in CHARGE syndrome: correlation with diagnosis and characteristic CHARGE anomalies. 14626219 2003
dbSNP: rs1064793083
rs1064793083
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0000772
Disease:
Multiple congenital anomalies
T 0.700 CausalMutation CLINVAR CHARGE Association in newborns: a registry-based study. 10590394 1999