| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.600 | GeneticVariation | disease | CLINVAR | Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. | 30158690 | 2019 | ||||
|
0.600 | GeneticVariation | disease | CLINVAR | Molecular diagnostic experience of whole-exome sequencing in adult patients. | 26633545 | 2016 | ||||
|
0.600 | Biomarker | disease | GENOMICS_ENGLAND | De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes. | 25655089 | 2015 | ||||
|
0.600 | Biomarker | disease | GENOMICS_ENGLAND | Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data. | 25529582 | 2015 | ||||
|
0.600 | Biomarker | disease | GENOMICS_ENGLAND | Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism. | 25125236 | 2014 | ||||
|
0.600 | CausalMutation | disease | CLINVAR | |||||||
|
0.600 | Biomarker | disease | CTD_human | |||||||
|
0.300 | Biomarker | disease | CTD_human | BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndrome. | 29379197 | 2018 | ||||
|
0.300 | Biomarker | disease | CTD_human | BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndrome. | 29379197 | 2018 | ||||
|
0.300 | Biomarker | disease | CTD_human | Multiple organ system defects and transcriptional dysregulation in the Nipbl(+/-) mouse, a model of Cornelia de Lange Syndrome. | 19763162 | 2009 | ||||
|
0.300 | Biomarker | disease | CTD_human | Cornelia de Lange syndrome: description of the orofacial features and case report. | 19886366 | 2008 | ||||
|
0.300 | Biomarker | disease | CTD_human | |||||||
|
0.300 | Biomarker | disease | CTD_human |