Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
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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 | ||||
|
0.450 | GeneticVariation | group | BEFREE | 10-year-old female with intragenic KANSL1 mutation, no KANSL1-related intellectual disability, and preserved verbal intelligence. | 28211987 | 2017 | ||||
|
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 | ||||
|
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 | ||||
|
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 | ||||
|
0.450 | Biomarker | group | CTD_human | Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype. | 22544367 | 2012 | ||||
|
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 | ||||
|
0.450 | Biomarker | group | HPO |