Disease: Congenital ocular coloboma (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		0.010 GeneticVariation disease BEFREE Our patient confirms an association of ocular coloboma with presumed loss of SPINT2 function. 29575628 2018