Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2748910
Disease: Rett Syndrome, Atypical
Rett Syndrome, Atypical
0.300 GermlineCausalMutation disease ORPHANET GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy. 28856709 2017