SETBP1, SET binding protein 1, 26040

N. diseases: 257; N. variants: 28
Disease: Developmental delay (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.020 Biomarker phenotype BEFREE The ABAT, FTSJ1, DYNC1H1, and SETBP1 genes were identified as DD/ID candidate genes. 29631977 2019
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.020 Biomarker phenotype BEFREE A cohort study to identify nucleotide changes in SETBP1 was performed in 142 Japanese patients with developmental delay. 21037274 2011