Disease: Coloboma of the Retina ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3540764
Disease: Coloboma of the Retina
Coloboma of the Retina 		0.010 GeneticVariation disease BEFREE Congenital sodium diarrhea and chorioretinal coloboma with optic disc coloboma in a patient with biallelic SPINT2 mutations, including p.(Tyr163Cys). 29575628 2018