SETBP1, SET binding protein 1, 26040

N. diseases: 6; N. variants: 7
Disease: Schinzel-Giedion syndrome ×
Source: UNIPROT ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265227
Disease: Schinzel-Giedion syndrome
Schinzel-Giedion syndrome 		0.770 GeneticVariation disease UNIPROT De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. 20436468 2010