KANSL1, KAT8 regulatory NSL complex subunit 1, 284058

N. diseases: 140; N. variants: 332
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 		0.400 Biomarker phenotype CTD_human We show that haploinsufficiency of KANSL1 is sufficient to cause the 17q21.31 microdeletion syndrome, a multisystem disorder characterized by intellectual disability, hypotonia and distinctive facial features. 22544363 2012
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.400 Biomarker phenotype CTD_human Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype. 22544367 2012
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.400 CausalMutation phenotype CLINVAR