ADAMTSL1, ADAMTS like 1, 92949

N. diseases: 40; N. variants: 16
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0399526
Disease: Class III malocclusion
Class III malocclusion 		0.110 GeneticVariation disease BEFREE This is the first report that mutations in ADAMTSL1 are responsible for the pathogenesis of mandibular prognathism. 30714143 2019
CUI: C0020302
Disease: Hydrophthalmos
Hydrophthalmos 		0.110 GeneticVariation disease BEFREE Identification and functional analysis of an ADAMTSL1 variant associated with a complex phenotype including congenital glaucoma, craniofacial, and other systemic features in a three-generation human pedigree. 28722276 2017
CUI: C0020302
Disease: Hydrophthalmos
Hydrophthalmos 		0.110 Biomarker disease HPO
CUI: C0399526
Disease: Class III malocclusion
Class III malocclusion 		0.110 Biomarker disease HPO
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0005938
Disease: Bone Density
Bone Density 		0.100 GeneticVariation phenotype GWASCAT Joint Association Analysis Identified 18 New Loci for Bone Mineral Density. 30690781 2019
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.100 GeneticVariation phenotype GWASCAT New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries. 30804560 2019
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.100 GeneticVariation phenotype GWASCAT New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries. 30804560 2019
CUI: C0038663
Disease: Suicide attempt
Suicide attempt 		0.100 GeneticVariation phenotype GWASCAT Genetics of suicide attempts in individuals with and without mental disorders: a population-based genome-wide association study. 30116032 2018
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.100 GeneticVariation phenotype GWASCAT A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure. 29455858 2018
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		0.100 GeneticVariation disease GWASCAT Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. 28604730 2017
CUI: C1266708
Disease: Polybrominated biphenyl measurement
Polybrominated biphenyl measurement 		0.100 GeneticVariation phenotype GWASCAT Independent Maternal and Fetal Genetic Effects on Midgestational Circulating Levels of Environmental Pollutants. 28235828 2017
CUI: C0027092
Disease: Myopia
Myopia 		0.100 GeneticVariation disease GWASCAT Detection and interpretation of shared genetic influences on 42 human traits. 27182965 2016
CUI: C0004096
Disease: Asthma
Asthma 		0.100 GeneticVariation disease GWASCAT Genome-Wide Association Study Identifies Novel Loci Associated With Diisocyanate-Induced Occupational Asthma. 25918132 2015
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		0.100 GeneticVariation disease GWASDB A genome-wide association study of alcohol-dependence symptom counts in extended pedigrees identifies C15orf53. 23089632 2013
CUI: C0017601
Disease: Glaucoma
Glaucoma 		0.100 GeneticVariation disease GWASDB Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1. 21532571 2011
CUI: C0018801
Disease: Heart failure
Heart failure 		0.100 GeneticVariation disease GWASCAT Association of genome-wide variation with the risk of incident heart failure in adults of European and African ancestry: a prospective meta-analysis from the cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium. 20445134 2010
CUI: C0018801
Disease: Heart failure
Heart failure 		0.100 GeneticVariation disease GWASDB Association of genome-wide variation with the risk of incident heart failure in adults of European and African ancestry: a prospective meta-analysis from the cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium. 20445134 2010
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.100 GeneticVariation disease GWASDB Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data. 17052657 2006
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.100 Biomarker disease HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.100 Biomarker disease HPO
CUI: C0027092
Disease: Myopia
Myopia 		0.100 Biomarker disease HPO
CUI: C0035305
Disease: Retinal Detachment
Retinal Detachment 		0.100 Biomarker disease HPO
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders 		0.100 Biomarker group HPO