KANSL1, KAT8 regulatory NSL complex subunit 1, 284058

N. diseases: 140; N. variants: 332
Disease: Muscle Tone Atonic ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0427202
Disease: Muscle Tone Atonic
Muscle Tone Atonic 		0.300 Biomarker phenotype CTD_human Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome. 22544363 2012
CUI: C0427202
Disease: Muscle Tone Atonic
Muscle Tone Atonic 		0.300 Biomarker phenotype CTD_human Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype. 22544367 2012