GNB1, G protein subunit beta 1, 2782

N. diseases: 34; N. variants: 11
Disease: Global developmental delay ×
Source: CLINVAR ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.420 CausalMutation disease CLINVAR Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 27108799 2016
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.420 GeneticVariation disease CLINVAR