Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.600 GermlineCausalMutation disease ORPHANET We hypothesized that CHD7 would be involved in the pathogenesis of IHH and KS (IHH/KS) without the CHARGE phenotype and that IHH/KS represents a milder allelic variant of CHARGE syndrome. 18834967 2008
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome 		0.310 GermlineCausalMutation disease ORPHANET
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		1.000 CausalMutation disease CLINVAR CHD7 gene and non-syndromic cleft lip and palate. 16763960 2006
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		1.000 CausalMutation disease CLINVAR Novel CHD7 mutations contributing to the mutation spectrum in patients with CHARGE syndrome. 20624498 2011
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		1.000 CausalMutation disease CLINVAR CHARGE syndrome is an autosomal dominant multisystem disorder caused by mutation in the CHD7 gene, encoding chromodomain helicase DNA-binding protein 7. 21158681 2010
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		1.000 CausalMutation disease CLINVAR Anosmia predicts hypogonadotropic hypogonadism in CHARGE syndrome. 20884005 2011
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		1.000 CausalMutation disease CLINVAR Clinical, genetic and neuropathological findings in a series of 138 fetuses with a corpus callosum malformation. 26663670 2016
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		1.000 CausalMutation disease CLINVAR CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays. 29255276 2018
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		1.000 CausalMutation disease CLINVAR The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients. 25077900 2014
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		1.000 CausalMutation disease CLINVAR Prenatal findings in children with early postnatal diagnosis of CHARGE syndrome. 27061523 2016
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		1.000 CausalMutation disease CLINVAR Immune Dysfunction in Children with CHARGE Syndrome: A Cross-Sectional Study. 26544072 2015
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		1.000 CausalMutation disease CLINVAR Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency. 25472840 2014
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		1.000 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
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		1.000 CausalMutation disease CLINVAR Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability. 17661815 2007
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		1.000 CausalMutation disease CLINVAR CHD7 mutations can be present in KS patients who have additional features that are part of the CHARGE syndrome phenotype. 19021638 2009
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		1.000 CausalMutation disease CLINVAR To determine the parental origin of CHD7 mutations in sporadic CHARGE syndrome, we screened 30 families for informative exonic or intronic polymorphisms located near the detected CHD7 mutation. 21554267 2012
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		1.000 CausalMutation disease CLINVAR In addition, we summarize the latest data on CHD7 expression studies, animal models, and functional studies, and we discuss the latest clinical insights into CHARGE syndrome. 22461308 2012
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		1.000 CausalMutation disease CLINVAR Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions. 18073582 2007
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		1.000 CausalMutation disease CLINVAR Sequence analysis of genes located in this region detected mutations in the gene CHD7 in 10 of 17 individuals with CHARGE syndrome without microdeletions, accounting for the disease in most affected individuals. 15300250 2004
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		1.000 CausalMutation disease CLINVAR Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations. 23024289 2012
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		1.000 CausalMutation disease CLINVAR The coding regions of CHD7 were screened for mutations in 107 index patients with clinical features suggestive of CHARGE syndrome. 16155193 2006
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		1.000 CausalMutation disease CLINVAR Five of 9 patients were clinically diagnosed as atypical CHARGE syndrome but demonstrated various mutations of the CHD7 gene. 21931733 2011
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		1.000 CausalMutation disease CLINVAR Considering its frequency among patients with CHD7 mutations, cerebellar vermis hypoplasia may be a clinical diagnostic clue of CHARGE syndrome, although it is not included in the diagnostic criteria. 26538304 2016
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		1.000 CausalMutation disease CLINVAR We sequenced the CHD7 gene in 110 individuals who had received the clinical diagnosis of CHARGE syndrome, and we detected mutations in 64 (58%). 16400610 2006
CUI: C3552553
Disease: HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
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