Disease: STANKIEWICZ-ISIDOR SYNDROME ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4479599
Disease: STANKIEWICZ-ISIDOR SYNDROME
STANKIEWICZ-ISIDOR SYNDROME 		0.400 Biomarker disease GENOMICS_ENGLAND De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder. 28132691 2017
CUI: C4479599
Disease: STANKIEWICZ-ISIDOR SYNDROME
STANKIEWICZ-ISIDOR SYNDROME 		0.400 CausalMutation disease CLINVAR