Disease: Coloboma of optic disc ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0155299
Disease: Coloboma of optic disc
Coloboma of optic disc 		0.310 GeneticVariation disease BEFREE We found only one other report of an optic nerve coloboma associated with SPINT2 mutations and this occurred in a patient with congenital tufting enteropathy. 29575628 2018
CUI: C0155299
Disease: Coloboma of optic disc
Coloboma of optic disc 		0.310 Biomarker disease GENOMICS_ENGLAND Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form. 24142340 2014