Disease: CHARGE Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs794727293
rs794727293
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0265354
Disease:
CHARGE Syndrome 		T 0.700 CausalMutation CLINVAR Mutation update on the CHD7 gene involved in CHARGE syndrome. 22461308 2012
dbSNP: rs794727293
rs794727293
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0265354
Disease:
CHARGE Syndrome 		T 0.700 CausalMutation CLINVAR Novel CHD7 mutations contributing to the mutation spectrum in patients with CHARGE syndrome. 20624498 2011
dbSNP: rs794727293
rs794727293
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0265354
Disease:
CHARGE Syndrome 		T 0.700 CausalMutation CLINVAR Mutations in the CHD7 gene: the experience of a commercial laboratory. 21158681 2010
dbSNP: rs794727293
rs794727293
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0265354
Disease:
CHARGE Syndrome 		T 0.700 CausalMutation CLINVAR Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability. 17661815 2007
dbSNP: rs794727293
rs794727293
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0265354
Disease:
CHARGE Syndrome 		T 0.700 CausalMutation CLINVAR CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene. 16155193 2006
dbSNP: rs794727293
rs794727293
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0265354
Disease:
CHARGE Syndrome 		T 0.700 CausalMutation CLINVAR Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. 15300250 2004