Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.450 Biomarker CTD_human Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype. 22544367

2012
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.450 Biomarker 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