Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.410 Biomarker CTD_human These genetic changes include haploinsufficiency of SETBP1 associated with intellectual disability and loss of expressive language and truncations of ZMYND11 in individuals with autism, aggression and complex neuropsychiatric features. 25217958

2014

Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.410 Biomarker CTD_human De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. 20436468

2010