Disease: Contracture ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009917
Disease: Contracture
Contracture 		0.010 GeneticVariation disease BEFREE De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. 30343943 2018