Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Microphthalmia associated with colobomatous cyst
0.300 GermlineCausalMutation phenotype ORPHANET First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: a new dimension to the STRA6 phenotype. 21901792 2011