Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0038379
Disease: Strabismus
Strabismus
0.110 GeneticVariation disease BEFREE Homozygosity mapping and exome sequencing in two affected siblings of a consanguineous family with mild intellectual disability, spastic paraplegia, and strabismus revealed a homozygous premature stop mutation at codon 139 of C12ORF65. 24080142 2013
CUI: C0038379
Disease: Strabismus
Strabismus
0.110 Biomarker disease HPO