Disease: Microphthalmos ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.120 GeneticVariation disease BEFREE One of the individuals is an 11-year-old boy with a frameshift variant in exon 7 of NAA10, who presents most notably with microphthalmia, which confirms a prior finding with a single family with Lenz microphthalmia syndrome. 31127942 2019
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.120 GeneticVariation disease BEFREE To date, no gene has been identified for LMS in the microphthalmia syndrome 1 locus (MCOPS1). 24431331 2014
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.120 Biomarker disease HPO