Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 GeneticVariation disease CLINVAR New biomarkers for early diagnosis of Lesch-Nyhan disease revealed by metabolic analysis on a large cohort of patients. 25612837 2015
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 GeneticVariation disease CLINVAR Brain white matter volume abnormalities in Lesch-Nyhan disease and its variants. 25503620 2015
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 GeneticVariation disease CLINVAR Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder. 23975452 2014