Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3553249
Disease: COFFIN-SIRIS SYNDROME 4
COFFIN-SIRIS SYNDROME 4
0.600 GeneticVariation disease UNIPROT Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. 22426308 2012
CUI: C3553249
Disease: COFFIN-SIRIS SYNDROME 4
COFFIN-SIRIS SYNDROME 4
0.600 CausalMutation disease CLINVAR
CUI: C3553249
Disease: COFFIN-SIRIS SYNDROME 4
COFFIN-SIRIS SYNDROME 4
0.600 GeneticVariation disease CLINVAR
CUI: C3553249
Disease: COFFIN-SIRIS SYNDROME 4
COFFIN-SIRIS SYNDROME 4
0.600 Biomarker disease GENOMICS_ENGLAND