CEP290, centrosomal protein 290, 80184

N. diseases: 196; N. variants: 100
Disease: MECKEL SYNDROME, TYPE 4 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1970161
Disease: MECKEL SYNDROME, TYPE 4
MECKEL SYNDROME, TYPE 4 		0.610 Biomarker disease GENOMICS_ENGLAND Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center. 30055837 2018
CUI: C1970161
Disease: MECKEL SYNDROME, TYPE 4
MECKEL SYNDROME, TYPE 4 		0.610 Biomarker disease BEFREE Molecular and cytogenetic analysis identified a paternally inherited CEP290/MKS4 (MIM611134) (12q21) nonsense mutation and a maternal 12q21 microdeletion. 23954617 2013
CUI: C1970161
Disease: MECKEL SYNDROME, TYPE 4
MECKEL SYNDROME, TYPE 4 		0.610 Biomarker disease GENOMICS_ENGLAND CEP290, a gene with many faces: mutation overview and presentation of CEP290base. 20690115 2010
CUI: C1970161
Disease: MECKEL SYNDROME, TYPE 4
MECKEL SYNDROME, TYPE 4 		0.610 Biomarker disease GENOMICS_ENGLAND Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. 18327255 2008
CUI: C1970161
Disease: MECKEL SYNDROME, TYPE 4
MECKEL SYNDROME, TYPE 4 		0.610 Biomarker disease GENOMICS_ENGLAND Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. 17564974 2007
CUI: C1970161
Disease: MECKEL SYNDROME, TYPE 4
MECKEL SYNDROME, TYPE 4 		0.610 Biomarker disease GENOMICS_ENGLAND Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype. 17345604 2007
CUI: C1970161
Disease: MECKEL SYNDROME, TYPE 4
MECKEL SYNDROME, TYPE 4 		0.610 Biomarker disease GENOMICS_ENGLAND Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. 16909394 2006
CUI: C1970161
Disease: MECKEL SYNDROME, TYPE 4
MECKEL SYNDROME, TYPE 4 		0.610 GeneticVariation disease CLINVAR
CUI: C1970161
Disease: MECKEL SYNDROME, TYPE 4
MECKEL SYNDROME, TYPE 4 		0.610 Biomarker disease CTD_human
CUI: C1970161
Disease: MECKEL SYNDROME, TYPE 4
MECKEL SYNDROME, TYPE 4 		0.610 CausalMutation disease CLINVAR