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: C1864871
Disease: Chromosome 17q21.31 Deletion Syndrome
Chromosome 17q21.31 Deletion Syndrome 		0.750 GeneticVariation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545

2016
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1
CUI: C1864871
Disease: Chromosome 17q21.31 Deletion Syndrome
Chromosome 17q21.31 Deletion Syndrome 		0.750 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: C1864871
Disease: Chromosome 17q21.31 Deletion Syndrome
Chromosome 17q21.31 Deletion Syndrome 		0.750 CausalMutation CLINVAR Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype. 22544367

2012
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1
CUI: C1864871
Disease: Chromosome 17q21.31 Deletion Syndrome
Chromosome 17q21.31 Deletion Syndrome 		0.750 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: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.450 Biomarker HPO

Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.400 CausalMutation CLINVAR

Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.110 GeneticVariation GWASDB Genome-wide mapping of IBD segments in an Ashkenazi PD cohort identifies associated haplotypes. 24842889

2014
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.110 GeneticVariation GWASCAT Genome-wide mapping of IBD segments in an Ashkenazi PD cohort identifies associated haplotypes. 24842889

2014
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.110 GeneticVariation GWASDB Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database. 22438815

2012
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.110 GeneticVariation GWASDB Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease. 21738487

2011
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.110 GeneticVariation GWASDB Genome-wide association study reveals genetic risk underlying Parkinson's disease. 19915575

2009
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1
CUI: C0036572
Disease: Seizures
Seizures 		0.110 Biomarker HPO

Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		0.100 GeneticVariation GWASCAT Identification of common genetic risk variants for autism spectrum disorder. 30804558

2019
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.100 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.100 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.100 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.100 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.100 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1
CUI: C1305855
Disease: Body mass index
Body mass index 		0.100 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.100 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010

2018
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.100 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010

2018
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1
CUI: C0525045
Disease: Mood Disorders
Mood Disorders 		0.100 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways. 29942085

2018
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.100 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010

2018
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		0.100 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways. 29942085

2018
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.100 GeneticVariation GWASCAT Genome-wide association analyses for lung function and chronic obstructive pulmonary disease identify new loci and potential druggable targets. 28166213

2017