Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant. 26306646

2016
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR KANSL1 gene disruption associated with the full clinical spectrum of 17q21.31 microdeletion syndrome. 26293599

2015
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients. 26424144

2015
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome. 22544363

2012
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype. 22544367

2012