SET, SET nuclear proto-oncogene, 6418

N. diseases: 183; N. variants: 5
Disease: Intellectual Disability ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.410 GeneticVariation group BEFREE De novo mutations in the SET nuclear proto-oncogene, encoding a component of the inhibitor of histone acetyltransferases (INHAT) complex in patients with nonsyndromic intellectual disability. 29688601 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.410 Biomarker group GENOMICS_ENGLAND Prevalence and architecture of de novo mutations in developmental disorders. 28135719 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.410 Biomarker group HPO