Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1345
Gene Symbol: COX6C
COX6C
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.100 GeneticVariation CLINVAR Modeled Fetal Risk of Genetic Diseases Identified by Expanded Carrier Screening. 27533158

2016
Entrez Id: 1345
Gene Symbol: COX6C
COX6C
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.100 GeneticVariation CLINVAR High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome. 20461111

2010
Entrez Id: 1345
Gene Symbol: COX6C
COX6C
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.100 GeneticVariation CLINVAR Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1. 19006247

2009
Entrez Id: 1345
Gene Symbol: COX6C
COX6C
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.100 GeneticVariation CLINVAR Delineation of Cohen syndrome following a large-scale genotype-phenotype screen. 15141358

2004