CEP164, centrosomal protein 164, 22897

N. diseases: 33; N. variants: 13
Disease: Ciliopathies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.320 Biomarker disease BEFREE Here we examine the functional role of CEP164 in nephronophthisis-related ciliopathies and concomitant fibrosis. 25340510 2014
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.320 Biomarker disease BEFREE We show that knockdown of CEP164 or ZNF423 causes sensitivity to DNA damaging agents and that cep164 knockdown in zebrafish results in dysregulated DDR and an NPHP-RC phenotype. 22863007 2012
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.320 Biomarker disease GENOMICS_ENGLAND
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.320 Biomarker disease GENOMICS_ENGLAND