SETBP1, SET binding protein 1, 26040

N. diseases: 257; N. variants: 28
Disease: Speech Delay ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0241210
Disease: Speech Delay
Speech Delay 		0.310 Biomarker disease CTD_human Refining analyses of copy number variation identifies specific genes associated with developmental delay. 25217958 2014
CUI: C0241210
Disease: Speech Delay
Speech Delay 		0.310 GeneticVariation disease BEFREE As rare 18q interstitial deletions affecting multiple genes including SETBP1 correlate with a milder phenotype, including minor physical anomalies and developmental and expressive speech delay, mutations in SETBP1 are thought to result in a gain-of-function or a dominant-negative effect. 21037274 2011