Disease: Hypothalamic hamartomas ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0342418
Disease: Hypothalamic hamartomas
Hypothalamic hamartomas 		0.010 GeneticVariation disease BEFREE Three individuals had somatic mutations in PRKACA, which encodes a cAMP-dependent protein kinase that acts as a repressor protein in the Shh pathway, and four subjects had somatic mutations in GLI3, an Shh pathway gene associated with HH. 27453577 2016