GNB5, G protein subunit beta 5, 10681

N. diseases: 29; N. variants: 7
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1527366
Disease: Salaam Seizures
Salaam Seizures
0.010 Biomarker disease BEFREE GNB5 developmental and epileptic encephalopathy is characterized by epileptic spasms, focal seizures, and profound impairment. 31631344 2019