Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3151617
Disease: ANTERIOR SEGMENT DYSGENESIS 7
ANTERIOR SEGMENT DYSGENESIS 7
0.300 GermlineCausalMutation disease ORPHANET Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects. 22068589 2012