Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
0.010 Biomarker disease BEFREE Among these, it is hypothesized that haploinsufficiency of AMIGO2 is potentially responsible for the mental retardation of this patient, and of COL2A1 for the cleft palate and high myopia. 20933621 2011