Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1
0.450 Biomarker group BEFREE KANSL1 haploinsufficiency causes Koolen-de Vries syndrome (KdVS), characterized by dysmorphic features and intellectual disability; amiable personality, congenital malformations and seizures also commonly occur. 29352316 2018
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1
0.450 GeneticVariation group BEFREE 10-year-old female with intragenic KANSL1 mutation, no KANSL1-related intellectual disability, and preserved verbal intelligence. 28211987 2017
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1
0.450 Biomarker group BEFREE KANSL1 gene expression studies and comparative clinical analysis of patients with 17q21.31 deletions and intragenic KANSL1 gene defects indicate that KANSL1 dysfunction is associated with the full spectrum of the 17q21.31 microdeletion syndrome, which includes characteristic facial features, hypotonia, intellectual disability, and structural defects of the brain, heart and genitourinary system, as well as, musculoskeletal and neuroectodermal anomalies. 26293599 2015
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1
0.450 GeneticVariation group BEFREE The degree of intellectual disability (ID) appears to be milder than expected in a considerable number of subjects with either chromosome deletion or KANSL1 mutation. 26424144 2015
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1
0.450 Biomarker group BEFREE 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
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1
0.450 Biomarker group CTD_human Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype. 22544367 2012
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1
0.450 Biomarker group 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
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1
0.450 Biomarker group HPO