Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023003
Disease: Langer-Giedion Syndrome
Langer-Giedion Syndrome
0.300 Biomarker disease GENOMICS_ENGLAND Characterisation of de novo MAPK10/JNK3 truncation mutations associated with cognitive disorders in two unrelated patients. 23329067 2013