Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
0.600 CausalMutation disease CLINVAR Cerebellar vermis hypoplasia in CHARGE syndrome: clinical and molecular characterization of 18 unrelated Korean patients. 26538304 2016
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
0.600 GeneticVariation disease UNIPROT The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients. 25077900 2014
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
0.600 Biomarker disease GENOMICS_ENGLAND Inappropriate p53 activation during development induces features of CHARGE syndrome. 25119037 2014
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
0.600 CausalMutation disease CLINVAR Complete screening of 50 patients with CHARGE syndrome for anomalies in the CHD7 gene using a denaturing high-performance liquid chromatography-based protocol: new guidelines and a proposal for routine diagnosis. 22033296 2012
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
0.600 CausalMutation disease CLINVAR CHD7 mutational analysis and clinical considerations for auditory rehabilitation in deaf patients with CHARGE syndrome. 21931733 2011
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
0.600 GeneticVariation disease UNIPROT Mutations in the CHD7 gene: the experience of a commercial laboratory. 21158681 2010
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
0.600 GeneticVariation disease UNIPROT Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. 18834967 2008
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
0.600 Biomarker disease GENOMICS_ENGLAND Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability. 18074359 2008
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
0.600 CausalMutation disease CLINVAR CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene. 16155193 2006
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
0.600 CausalMutation disease CLINVAR Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. 15300250 2004
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
0.600 GeneticVariation disease CLINVAR