Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Infantile muscular hypotonia
CUI: C1860834
Disease: Infantile muscular hypotonia
0.700 CausalMutation CLINVAR Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 27108799 2016