AGBL1, ATP/GTP binding protein like 1, 123624

N. diseases: 15; N. variants: 17
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 8
0.700 Biomarker disease GENOMICS_ENGLAND
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 8
0.700 Biomarker disease CTD_human
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 8
0.700 CausalMutation disease CLINVAR
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy
0.100 Biomarker disease HPO
CUI: C0027404
Disease: Narcolepsy
Narcolepsy
0.100 GeneticVariation disease GWASDB Genome-wide association database developed in the Japanese Integrated Database Project. 19629137 2009
CUI: C0006287
Disease: Bronchopulmonary Dysplasia
Bronchopulmonary Dysplasia
0.100 GeneticVariation disease GWASDB Identification of SPOCK2 as a susceptibility gene for bronchopulmonary dysplasia. 21836138 2011
Activated Partial Thromboplastin Time measurement
0.100 GeneticVariation phenotype GWASDB Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease. 22703881 2012
Activated Partial Thromboplastin Time measurement
0.100 GeneticVariation phenotype GWASCAT Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease. 22703881 2012
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.100 GeneticVariation phenotype GWASDB A genome-wide assessment of variability in human serum metabolism. 23281178 2013
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
0.100 GeneticVariation phenotype GWASCAT Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans. 23400010 2014
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 8
0.700 GeneticVariation disease UNIPROT Mutations in AGBL1 cause dominant late-onset Fuchs corneal dystrophy and alter protein-protein interaction with TCF4. 24094747 2013
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 8
0.700 Biomarker disease GENOMICS_ENGLAND Mutations in AGBL1 cause dominant late-onset Fuchs corneal dystrophy and alter protein-protein interaction with TCF4. 24094747 2013
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy
0.320 GermlineCausalMutation disease ORPHANET Mutations in AGBL1 cause dominant late-onset Fuchs corneal dystrophy and alter protein-protein interaction with TCF4. 24094747 2013
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy
0.320 GeneticVariation disease BEFREE Mutations in AGBL1 cause dominant late-onset Fuchs corneal dystrophy and alter protein-protein interaction with TCF4. 24094747 2013
CUI: C1562113
Disease: Fleck corneal dystrophy
Fleck corneal dystrophy
0.010 Biomarker disease BEFREE Finally, we show that AGBL1 interacts biochemically with the FCD-associated protein TCF4 and that the mutations found in our cohort of FCD individuals diminish this interaction. 24094747 2013
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke
0.100 GeneticVariation disease GWASCAT Meta-Analysis of Genome-Wide Association Studies Identifies Genetic Risk Factors for Stroke in African Americans. 26089329 2015
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 GeneticVariation disease GWASCAT Family-based association analyses of imputed genotypes reveal genome-wide significant association of Alzheimer's disease with OSBPL6, PTPRG, and PDCL3. 26830138 2016
CUI: C1305855
Disease: Body mass index
Body mass index
0.100 GeneticVariation phenotype GWASCAT Genome-Wide Association Study of the Modified Stumvoll Insulin Sensitivity Index Identifies BCL2 and FAM19A2 as Novel Insulin Sensitivity Loci. 27416945 2016
CUI: C4049919
Disease: Insulin Sensitivity Measurement
Insulin Sensitivity Measurement
0.100 GeneticVariation phenotype GWASCAT Genome-Wide Association Study of the Modified Stumvoll Insulin Sensitivity Index Identifies BCL2 and FAM19A2 as Novel Insulin Sensitivity Loci. 27416945 2016
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy
0.320 GeneticVariation disease BEFREE Marker alleles of the tested SNVs in SLC4A11, LOXHD1, and rs185919705 in AGBL1 were not found in our FECD cohort. 30267097 2018
CUI: C0428419
Disease: Triiodothyronine measurement
Triiodothyronine measurement
0.100 GeneticVariation phenotype GWASCAT Genome-wide meta-analysis identifies novel loci associated with free triiodothyronine and thyroid-stimulating hormone. 30843173 2019
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.010 Biomarker disease BEFREE Furthermore, a genome-wide combined P-value of individual SNPs in two independent case-parent triad samples (total 402 triads, n = 1,206) identified SNPs at EGFLAM, ZDHHC2, AGBL1, and SNX29 as additional association signals for autism. 31647196 2020