Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A
0.340 GeneticVariation disease BEFREE Mutations in CC2D2A were the most common cause of an antenatal cystic kidney disease and a suspected ciliopathy in our cohort. 26862157 2016
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A
0.340 GeneticVariation disease BEFREE The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking. 26485645 2015
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A
0.340 GeneticVariation disease BEFREE In ciliated cells, we observe localization of recombinant CC2D2A at the basal body and colocalization with CEP290, whose cognate gene is mutated in multiple hereditary ciliopathies. 18950740 2008
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A
0.340 Biomarker disease BEFREE 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
0.340 Biomarker disease GENOMICS_ENGLAND