ADCY5, adenylate cyclase 5, 111

N. diseases: 103; N. variants: 23
Disease: Familial (FPAH) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.020 Biomarker disease BEFREE ADCY5-related dyskinesia presenting as familial myoclonus-dystonia. 28229249 2017
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.020 GeneticVariation disease BEFREE Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia. 24700542 2014