Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
0.440 GermlineCausalMutation ORPHANET Molecular genetics and pathogenic mechanisms for the severe ciliopathies: insights into neurodevelopment and pathogenesis of neural tube defects. 21110233

2011

Entrez Id: 80184
Gene Symbol: CEP290
CEP290
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
0.440 GermlineCausalMutation ORPHANET Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups? 19466712

2009

Entrez Id: 80184
Gene Symbol: CEP290
CEP290
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
0.440 GermlineCausalMutation ORPHANET Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. 17564974

2007