GNB1, G protein subunit beta 1, 2782

N. diseases: 34; N. variants: 11
Source: CLINVAR ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1836830
Disease: Developmental regression
Developmental regression
0.100 CausalMutation disease CLINVAR Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 27108799 2016