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