Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1443
Gene Symbol: CSH2
CSH2
0.020 GeneticVariation disease BEFREE Clinically observed similarities between COFS syndrome and CS have been followed by discoveries of cases of COFS syndrome that are associated with mutations in the XPG and CSB genes. 11443545 2001
Entrez Id: 1443
Gene Symbol: CSH2
CSH2
0.020 GeneticVariation disease BEFREE The identical mutation was detected in the CSB gene from both children with COFS syndrome and in both parents of one of the patients. 10739753 2000