Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6418
Gene Symbol: SET
SET
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Zinc Finger and X-Linked Factor (ZFX) Binds to Human SET Transcript 2 Promoter and Transactivates SET Expression. 27775603

2016
Entrez Id: 6418
Gene Symbol: SET
SET
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR De novo mutations in moderate or severe intellectual disability. 25356899

2014
Entrez Id: 6418
Gene Symbol: SET
SET
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Identification and characterization of SEB, a novel protein that binds to the acute undifferentiated leukemia-associated protein SET. 11231286

2001