Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931753
Disease: Achromatopsia incomplete, X-linked
Achromatopsia incomplete, X-linked
0.300 GermlineCausalMutation disease ORPHANET Blue cone monochromatism: clinical findings in patients with mutations in the red/green opsin gene cluster. 15069569 2004