Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A
0.400 Biomarker disease GENOMICS_ENGLAND Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). 19574260 2010
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A
0.400 Biomarker disease GENOMICS_ENGLAND Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle. 18513680 2008
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A
0.400 Biomarker disease HPO