Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013336
Disease: Dwarfism
Dwarfism
0.110 GeneticVariation disease BEFREE We reported a milder form of COG5 defect showing Friedreich's-ataxia-like phenotypes without hypotonia, microcephaly, and short stature that were observed in most patients with COG5 defect. 28960046 2017
CUI: C0013336
Disease: Dwarfism
Dwarfism
0.110 Biomarker disease HPO