Disease: Fundus coloboma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0240896
Disease: Fundus coloboma
Fundus coloboma 		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