SET, SET nuclear proto-oncogene, 6418

N. diseases: 183; N. variants: 5
Disease: Muscle hypotonia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR Zinc Finger and X-Linked Factor (ZFX) Binds to Human SET Transcript 2 Promoter and Transactivates SET Expression. 27775603 2016
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR De novo mutations in moderate or severe intellectual disability. 25356899 2014
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR Identification and characterization of SEB, a novel protein that binds to the acute undifferentiated leukemia-associated protein SET. 11231286 2001