rs752746786, GNB1

N. diseases: 30
Disease: Developmental regression ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Developmental regression
CUI: C1836830
Disease: Developmental regression
0.700 CausalMutation CLINVAR Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 27108799 2016