| Name |
|---|
AVSD1 Geneatrioventricular septal defect 1 |
ASD1 Geneatrial septal defect 1 |
MPDU1 Genemannose-P-dolichol utilization defect 1 This gene encodes an endoplasmic reticulum membrane protein that is required for utilization of the mannose donor mannose-P-dolichol in the synthesis of lipid-linked oligosaccharides and glycosylphosphatidylinositols. Mutations in this gene result in congenital disorder of glycosylation type If. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008] |
Atrioventricular septal defect 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Atrioventricular septal defect 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
atrioventricular septal defect 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the atrioventricular septal defect 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
atrial septal defects; congenital heart defects; heart defects, congenital; heart septal defects, atrial; heart septal defects, ventricular; ventricular septal defects Gene SetFrom GAD Gene-Disease Associations genes associated with the disease atrial septal defects; congenital heart defects; heart defects, congenital; heart septal defects, atrial; heart septal defects, ventricular; ventricular septal defects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Atrioventricular septal defect and common atrioventricular junction Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Atrioventricular septal defect and common atrioventricular junction phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Dandy-Walker like malformation with atrioventricular septal defect Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dandy-Walker like malformation with atrioventricular septal defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Atrial septal defect 7 with or without atrioventricular conduction defects Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Atrial septal defect 7 with or without atrioventricular conduction defects phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Atrioventricular septal defect, partial, with heterotaxy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Atrioventricular septal defect, partial, with heterotaxy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Atrioventricular septal defect 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Atrioventricular septal defect 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
ATRIOVENTRICULAR SEPTAL DEFECT 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease ATRIOVENTRICULAR SEPTAL DEFECT 3 from the curated CTD Gene-Disease Associations dataset. |
Atrioventricular Septal Defect, Partial, with Heterotaxy Syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Atrioventricular Septal Defect, Partial, with Heterotaxy Syndrome from the curated CTD Gene-Disease Associations dataset. |
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS from the curated CTD Gene-Disease Associations dataset. |
atrioventricular septal defect Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease atrioventricular septal defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
partial atrioventricular septal defect Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the partial atrioventricular septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
double outlet right ventricle with atrioventricular septal defect Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the double outlet right ventricle with atrioventricular septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
complete atrioventricular septal defect Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the complete atrioventricular septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
atrioventricular septal defect Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the atrioventricular septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
{atrioventricular septal defect, susceptibility to, 1} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {atrioventricular septal defect, susceptibility to, 1} phenotype from the curated OMIM Gene-Disease Associations dataset. |
atrioventricular septal defect, partial, with heterotaxy syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the atrioventricular septal defect, partial, with heterotaxy syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
{atrioventricular septal defect, susceptibility to, 2} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {atrioventricular septal defect, susceptibility to, 2} phenotype from the curated OMIM Gene-Disease Associations dataset. |
atrioventricular septal defect 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the atrioventricular septal defect 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
atrioventricular septal defect 5 Gene SetFrom OMIM Gene-Disease Associations genes associated with the atrioventricular septal defect 5 phenotype from the curated OMIM Gene-Disease Associations dataset. |
Atrioventricular Septal Defect Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Atrioventricular Septal Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Atrioventricular Septal Defect, Partial, With Heterotaxy Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Atrioventricular Septal Defect, Partial, With Heterotaxy Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
double outlet right ventricle with atrioventricular septal defect Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the double outlet right ventricle with atrioventricular septal defect phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
atrioventricular septal defect Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the atrioventricular septal defect phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
complete atrioventricular septal defect Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the complete atrioventricular septal defect phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
partial atrioventricular septal defect Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the partial atrioventricular septal defect phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
Atrioventricular septal defect Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Atrioventricular septal defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Atrioventricular septal defect Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Atrioventricular septal defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Familial atrioventricular septal defect Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Familial atrioventricular septal defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
atrial septal defects; cardiomyopathy, dilated; congenital heart defects; dcm - dilated cardiomyopathy; heart defects, congenital; heart septal defects, atrial Gene SetFrom GAD Gene-Disease Associations genes associated with the disease atrial septal defects; cardiomyopathy, dilated; congenital heart defects; dcm - dilated cardiomyopathy; heart defects, congenital; heart septal defects, atrial in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
heart defects, congenital; heart septal defects, atrial; heart septal defects, ventricular Gene SetFrom GAD Gene-Disease Associations genes associated with the disease heart defects, congenital; heart septal defects, atrial; heart septal defects, ventricular in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
apoplexy; atrial septal defects; brain ischemia; diabetes mellitus; heart septal defects, atrial; hypertension; intracranial thrombosis; ischemic attack, transient; stroke; transient ischemic attack Gene SetFrom GAD Gene-Disease Associations genes associated with the disease apoplexy; atrial septal defects; brain ischemia; diabetes mellitus; heart septal defects, atrial; hypertension; intracranial thrombosis; ischemic attack, transient; stroke; transient ischemic attack in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
atrial septal defects; death, sudden; heart septal defects, atrial; isolated noncompaction of the ventricular myocardium; syncope Gene SetFrom GAD Gene-Disease Associations genes associated with the disease atrial septal defects; death, sudden; heart septal defects, atrial; isolated noncompaction of the ventricular myocardium; syncope in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
heart septal defects, ventricular; ventricular septal defects Gene SetFrom GAD Gene-Disease Associations genes associated with the disease heart septal defects, ventricular; ventricular septal defects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
apoplexy; atrial septal defects; heart septal defects, atrial; stroke; thromboembolism Gene SetFrom GAD Gene-Disease Associations genes associated with the disease apoplexy; atrial septal defects; heart septal defects, atrial; stroke; thromboembolism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
atrial septal defects; heart septal defects, atrial; tetralogy of fallot Gene SetFrom GAD Gene-Disease Associations genes associated with the disease atrial septal defects; heart septal defects, atrial; tetralogy of fallot in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
apoplexy; atrial septal defects; embolism, paradoxical; heart septal defects, atrial; migraine with aura; stroke; thrombophilia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease apoplexy; atrial septal defects; embolism, paradoxical; heart septal defects, atrial; migraine with aura; stroke; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Atrioventricular Canal Defect Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Atrioventricular Canal Defect from the curated CTD Gene-Disease Associations dataset. |
atrioventricular canal defect with right ventricle aorta and pulmonary atresia Gene SetFrom HPO Gene-Disease Associations genes associated with the atrioventricular canal defect with right ventricle aorta and pulmonary atresia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
atrioventricular canal defect Gene SetFrom HPO Gene-Disease Associations genes associated with the atrioventricular canal defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
complete atrioventricular canal defect Gene SetFrom HPO Gene-Disease Associations genes associated with the complete atrioventricular canal defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Atrioventricular Canal Defect Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Atrioventricular Canal Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Partial Defect Of Atrioventricular Canal Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Partial Defect Of Atrioventricular Canal in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Transitional Atrioventricular Canal Defect Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Transitional Atrioventricular Canal Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Unbalanced Atrioventricular Canal Defect Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Unbalanced Atrioventricular Canal Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Ventricular septal defect 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ventricular septal defect 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ventricular septal defect 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ventricular septal defect 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Atrial septal defect 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Atrial septal defect 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Atrial septal defect 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Atrial septal defect 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Atrial septal defect 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Atrial septal defect 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Atrial septal defect 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Atrial septal defect 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Atrial septal defect 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Atrial septal defect 2 from the curated CTD Gene-Disease Associations dataset. |
Atrial Septal Defect 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Atrial Septal Defect 4 from the curated CTD Gene-Disease Associations dataset. |
Atrial Septal Defect 6 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Atrial Septal Defect 6 from the curated CTD Gene-Disease Associations dataset. |
Atrial Septal Defect 5 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Atrial Septal Defect 5 from the curated CTD Gene-Disease Associations dataset. |
Atrial Septal Defect 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Atrial Septal Defect 1 from the curated CTD Gene-Disease Associations dataset. |
atrial heart septal defect Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease atrial heart septal defect from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
heart septal defect Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease heart septal defect from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
heart septal defect Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease heart septal defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
ventricular septal defect Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease ventricular septal defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
atrial heart septal defect Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease atrial heart septal defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
ventricular septal defect Gene SetFrom HPO Gene-Disease Associations genes associated with the ventricular septal defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
secundum atrial septal defect Gene SetFrom HPO Gene-Disease Associations genes associated with the secundum atrial septal defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
inlet ventricular septal defect Gene SetFrom HPO Gene-Disease Associations genes associated with the inlet ventricular septal defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
muscular ventricular septal defect Gene SetFrom HPO Gene-Disease Associations genes associated with the muscular ventricular septal defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital septal defect Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital septal defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
perimembranous ventricular septal defect Gene SetFrom HPO Gene-Disease Associations genes associated with the perimembranous ventricular septal defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
primum atrial septal defect Gene SetFrom HPO Gene-Disease Associations genes associated with the primum atrial septal defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
atrial septal defect Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the atrial septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
ventricular septal defect Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the ventricular septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
perimembraneous ventricular septal defect Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the perimembraneous ventricular septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
inlet ventricular septal defect Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the inlet ventricular septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
aorticopulmonary septal defect Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the aorticopulmonary septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
muscular ventricular septal defect Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the muscular ventricular septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
ostium primum atrial septal defect Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the ostium primum atrial septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
ostium secundum atrial septal defect Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the ostium secundum atrial septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
ventricular septal defect 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ventricular septal defect 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
ventricular septal defect 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ventricular septal defect 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
atrial septal defect 6 Gene SetFrom OMIM Gene-Disease Associations genes associated with the atrial septal defect 6 phenotype from the curated OMIM Gene-Disease Associations dataset. |
atrial septal defect 5 Gene SetFrom OMIM Gene-Disease Associations genes associated with the atrial septal defect 5 phenotype from the curated OMIM Gene-Disease Associations dataset. |
atrial septal defect 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the atrial septal defect 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
atrial septal defect 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the atrial septal defect 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
atrial septal defect 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the atrial septal defect 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
atrial septal defect 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the atrial septal defect 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
atrial septal defect 9 Gene SetFrom OMIM Gene-Disease Associations genes associated with the atrial septal defect 9 phenotype from the curated OMIM Gene-Disease Associations dataset. |
atrial septal defect 8 Gene SetFrom OMIM Gene-Disease Associations genes associated with the atrial septal defect 8 phenotype from the curated OMIM Gene-Disease Associations dataset. |
ventricular septal defect 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ventricular septal defect 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
atrial septal defect 7, with or without av conduction defects Gene SetFrom OMIM Gene-Disease Associations genes associated with the atrial septal defect 7, with or without av conduction defects phenotype from the curated OMIM Gene-Disease Associations dataset. |
Aortopulmonary Septal Defect Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Aortopulmonary Septal Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Atrial Septal Defect Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Atrial Septal Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Ostium Secundum Atrial Septal Defect Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Ostium Secundum Atrial Septal Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Perimembranous Ventricular Septal Defect Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Perimembranous Ventricular Septal Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Ventricular Septal Defect Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Ventricular Septal Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Pulmonary Atresia With Ventricular Septal Defect Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Pulmonary Atresia With Ventricular Septal Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Double Outlet Right Ventricle With Doubly Committed Ventricular Septal Defect And Pulmonary Stenosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Double Outlet Right Ventricle With Doubly Committed Ventricular Septal Defect And Pulmonary Stenosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenitally Corrected Transposition Of The Great Arteries With Ventricular Septal Defect Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenitally Corrected Transposition Of The Great Arteries With Ventricular Septal Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Ventral Septal Defect Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Ventral Septal Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
perimembraneous ventricular septal defect Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the perimembraneous ventricular septal defect phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
ventricular septal defect Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the ventricular septal defect phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
atrial septal defect Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the atrial septal defect phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
ostium secundum atrial septal defect Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the ostium secundum atrial septal defect phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
muscular ventricular septal defect Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the muscular ventricular septal defect phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
ostium primum atrial septal defect Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the ostium primum atrial septal defect phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
inlet ventricular septal defect Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the inlet ventricular septal defect phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
aorticopulmonary septal defect Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the aorticopulmonary septal defect phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
double outlet right ventricle, noncommitted ventricular septal defect Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the double outlet right ventricle, noncommitted ventricular septal defect phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
subarterial ventricular septal defect Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the subarterial ventricular septal defect phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
Atrial heart septal defect Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Atrial heart septal defect from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Heart septal defect Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Heart septal defect from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Heart septal defect Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Heart septal defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Ventricular septal defect Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Ventricular septal defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Atrial heart septal defect Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Atrial heart septal defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Atrial heart septal defect 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Atrial heart septal defect 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Atrial heart septal defect 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Atrial heart septal defect 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Atrial heart septal defect 9 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Atrial heart septal defect 9 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Atrial heart septal defect 4 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Atrial heart septal defect 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Atrial heart septal defect 3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Atrial heart septal defect 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Atrial heart septal defect 6 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Atrial heart septal defect 6 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Atrial heart septal defect 5 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Atrial heart septal defect 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Atrial heart septal defect 8 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Atrial heart septal defect 8 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Atrial septal defect Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Atrial septal defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Ventricular septal defect Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Ventricular septal defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Atrioventricular Block Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Atrioventricular Block from the curated CTD Gene-Disease Associations dataset. |
atrioventricular block Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease atrioventricular block in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
atrioventricular block; myotonic dystrophy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease atrioventricular block; myotonic dystrophy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
atrioventricular block; death, sudden; syncope; torsades de pointes Gene SetFrom GAD Gene-Disease Associations genes associated with the disease atrioventricular block; death, sudden; syncope; torsades de pointes in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
atrioventricular Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term atrioventricular in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
atrioventricular node development Gene SetFrom GO Biological Process Annotations 2015 genes participating in the atrioventricular node development biological process from the curated GO Biological Process Annotations 2015 dataset. |
atrioventricular bundle cell differentiation Gene SetFrom GO Biological Process Annotations 2015 genes participating in the atrioventricular bundle cell differentiation biological process from the curated GO Biological Process Annotations 2015 dataset. |
atrioventricular valve morphogenesis Gene SetFrom GO Biological Process Annotations 2015 genes participating in the atrioventricular valve morphogenesis biological process from the curated GO Biological Process Annotations 2015 dataset. |
atrioventricular node cell fate commitment Gene SetFrom GO Biological Process Annotations 2015 genes participating in the atrioventricular node cell fate commitment biological process from the curated GO Biological Process Annotations 2015 dataset. |
atrioventricular valve formation Gene SetFrom GO Biological Process Annotations 2015 genes participating in the atrioventricular valve formation biological process from the curated GO Biological Process Annotations 2015 dataset. |
atrioventricular node cell development Gene SetFrom GO Biological Process Annotations 2015 genes participating in the atrioventricular node cell development biological process from the curated GO Biological Process Annotations 2015 dataset. |
atrioventricular canal development Gene SetFrom GO Biological Process Annotations 2015 genes participating in the atrioventricular canal development biological process from the curated GO Biological Process Annotations 2015 dataset. |
atrioventricular valve development Gene SetFrom GO Biological Process Annotations 2015 genes participating in the atrioventricular valve development biological process from the curated GO Biological Process Annotations 2015 dataset. |
Atrioventricular conduction Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Atrioventricular conduction phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
abnormal atrioventricular conduction Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the abnormal atrioventricular conduction phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
third degree atrioventricular block Gene SetFrom HPO Gene-Disease Associations genes associated with the third degree atrioventricular block phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
abnormal atrioventricular conduction Gene SetFrom HPO Gene-Disease Associations genes associated with the abnormal atrioventricular conduction phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
abnormality of the atrioventricular valves Gene SetFrom HPO Gene-Disease Associations genes associated with the abnormality of the atrioventricular valves phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
abnormal atrioventricular connection Gene SetFrom HPO Gene-Disease Associations genes associated with the abnormal atrioventricular connection phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
first degree atrioventricular block Gene SetFrom HPO Gene-Disease Associations genes associated with the first degree atrioventricular block phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
atrioventricular block Gene SetFrom HPO Gene-Disease Associations genes associated with the atrioventricular block phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Atrioventricular Block Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Atrioventricular Block phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
increased atrioventricular cushion size Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the increased atrioventricular cushion size phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
decreased atrioventricular cushion size Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the decreased atrioventricular cushion size phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal atrioventricular node conduction Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal atrioventricular node conduction phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal fetal atrioventricular canal septation Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal fetal atrioventricular canal septation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal fetal atrioventricular canal morphology Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal fetal atrioventricular canal morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
biventricular, discordant atrioventricular connection Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the biventricular, discordant atrioventricular connection phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
absent atrioventricular cushions Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the absent atrioventricular cushions phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal atrioventricular bundle conduction Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal atrioventricular bundle conduction phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
biventricular, ambiguous atrioventricular connection Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the biventricular, ambiguous atrioventricular connection phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
unbalanced complete common atrioventricular canal Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the unbalanced complete common atrioventricular canal phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
common atrioventricular valve Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the common atrioventricular valve phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal atrioventricular cushion morphology Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal atrioventricular cushion morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
thin atrioventricular cushion Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the thin atrioventricular cushion phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal atrioventricular node morphology Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal atrioventricular node morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal atrioventricular bundle morphology Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal atrioventricular bundle morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal atrioventricular valve morphology Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal atrioventricular valve morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
failure of atrioventricular cushion closure Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the failure of atrioventricular cushion closure phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
atrioventricular valve regurgitation Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the atrioventricular valve regurgitation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal atrioventricular septum morphology Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal atrioventricular septum morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
atrioventricular block Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the atrioventricular block phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
Complete Atrioventricular Block Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Complete Atrioventricular Block in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
First Degree Atrioventricular Block Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease First Degree Atrioventricular Block in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Atrioventricular Block Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Atrioventricular Block in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Partial Atrioventricular Canal Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Partial Atrioventricular Canal in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Second Degree Atrioventricular Block Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Second Degree Atrioventricular Block in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Common Atrioventricular Canal Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Common Atrioventricular Canal in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Atrioventricular Reciprocating Tachycardia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Atrioventricular Reciprocating Tachycardia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Re-Entrant Atrioventricular Tachycardia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Re-Entrant Atrioventricular Tachycardia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Electrocardiogram Atrioventricular Block Complete Heart Block Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Electrocardiogram Atrioventricular Block Complete Heart Block in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Anomalous Atrioventricular Excitation Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Anomalous Atrioventricular Excitation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Abnormal Atrioventricular Conduction Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Abnormal Atrioventricular Conduction in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
atrioventricular valve morphogenesis Gene SetFrom GO Biological Process Annotations 2023 genes participating in the atrioventricular valve morphogenesis biological process from the curated GO Biological Process Annotations 2023 dataset. |
atrioventricular valve development Gene SetFrom GO Biological Process Annotations 2023 genes participating in the atrioventricular valve development biological process from the curated GO Biological Process Annotations 2023 dataset. |
atrioventricular node cell development Gene SetFrom GO Biological Process Annotations 2023 genes participating in the atrioventricular node cell development biological process from the curated GO Biological Process Annotations 2023 dataset. |
atrioventricular node development Gene SetFrom GO Biological Process Annotations 2023 genes participating in the atrioventricular node development biological process from the curated GO Biological Process Annotations 2023 dataset. |
atrioventricular valve formation Gene SetFrom GO Biological Process Annotations 2023 genes participating in the atrioventricular valve formation biological process from the curated GO Biological Process Annotations 2023 dataset. |
atrioventricular bundle cell differentiation Gene SetFrom GO Biological Process Annotations 2023 genes participating in the atrioventricular bundle cell differentiation biological process from the curated GO Biological Process Annotations 2023 dataset. |
atrioventricular node cell fate commitment Gene SetFrom GO Biological Process Annotations 2023 genes participating in the atrioventricular node cell fate commitment biological process from the curated GO Biological Process Annotations 2023 dataset. |
atrioventricular node cell differentiation Gene SetFrom GO Biological Process Annotations 2023 genes participating in the atrioventricular node cell differentiation biological process from the curated GO Biological Process Annotations 2023 dataset. |
abnormal atrioventricular valve morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal atrioventricular valve morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal atrioventricular cushion morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal atrioventricular cushion morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal fetal atrioventricular canal morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal fetal atrioventricular canal morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
common atrioventricular valve Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the common atrioventricular valve phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
absent atrioventricular cushions Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the absent atrioventricular cushions phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
thin atrioventricular cushion Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the thin atrioventricular cushion phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
atrioventricular valve regurgitation Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the atrioventricular valve regurgitation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
failure of atrioventricular cushion closure Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the failure of atrioventricular cushion closure phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
increased atrioventricular cushion size Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the increased atrioventricular cushion size phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
decreased atrioventricular cushion size Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the decreased atrioventricular cushion size phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
atrioventricular block Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the atrioventricular block phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal atrioventricular septum morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal atrioventricular septum morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
atrioventricular cushion hypoplasia Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the atrioventricular cushion hypoplasia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal atrioventricular node morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal atrioventricular node morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal atrioventricular node conduction Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal atrioventricular node conduction phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal atrioventricular bundle morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal atrioventricular bundle morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal atrioventricular bundle conduction Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal atrioventricular bundle conduction phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
biventricular, discordant atrioventricular connection Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the biventricular, discordant atrioventricular connection phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
biventricular, ambiguous atrioventricular connection Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the biventricular, ambiguous atrioventricular connection phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
balanced complete atrioventricular canal Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the balanced complete atrioventricular canal phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
unbalanced complete atrioventricular canal, left dominant Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the unbalanced complete atrioventricular canal, left dominant phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
unbalanced complete common atrioventricular canal Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the unbalanced complete common atrioventricular canal phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
atrioventricular node hypoplasia Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the atrioventricular node hypoplasia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
Atrioventricular canal cell_Heart_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Atrioventricular canal cell_Heart_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
atrioventricular valve morphogenesis Gene SetFrom GO Biological Process Annotations 2025 genes participating in the atrioventricular valve morphogenesis biological process from the curated GO Biological Process Annotations 2025 dataset. |
atrioventricular valve development Gene SetFrom GO Biological Process Annotations 2025 genes participating in the atrioventricular valve development biological process from the curated GO Biological Process Annotations 2025 dataset. |
atrioventricular node cell development Gene SetFrom GO Biological Process Annotations 2025 genes participating in the atrioventricular node cell development biological process from the curated GO Biological Process Annotations 2025 dataset. |
atrioventricular node development Gene SetFrom GO Biological Process Annotations 2025 genes participating in the atrioventricular node development biological process from the curated GO Biological Process Annotations 2025 dataset. |
atrioventricular valve formation Gene SetFrom GO Biological Process Annotations 2025 genes participating in the atrioventricular valve formation biological process from the curated GO Biological Process Annotations 2025 dataset. |
atrioventricular bundle cell differentiation Gene SetFrom GO Biological Process Annotations 2025 genes participating in the atrioventricular bundle cell differentiation biological process from the curated GO Biological Process Annotations 2025 dataset. |
atrioventricular node cell fate commitment Gene SetFrom GO Biological Process Annotations 2025 genes participating in the atrioventricular node cell fate commitment biological process from the curated GO Biological Process Annotations 2025 dataset. |
atrioventricular node cell differentiation Gene SetFrom GO Biological Process Annotations 2025 genes participating in the atrioventricular node cell differentiation biological process from the curated GO Biological Process Annotations 2025 dataset. |
second-degree atrioventricular block Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease second-degree atrioventricular block in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Atrioventricular block Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Atrioventricular block in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
third-degree atrioventricular block Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease third-degree atrioventricular block in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
first-degree atrioventricular block Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease first-degree atrioventricular block in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Mobitz type II atrioventricular block Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Mobitz type II atrioventricular block in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Atrioventricular node Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 proteins co-occuring with the tissue Atrioventricular node in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. |
Atrioventricular block Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Atrioventricular block phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Third degree atrioventricular block Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Third degree atrioventricular block phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
First degree atrioventricular block Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the First degree atrioventricular block phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Atrioventricular conduction Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Atrioventricular conduction phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
septal nuclei, left Gene SetFrom Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles genes with high or low expression in septal nuclei, left relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset. |
septal nuclei, right Gene SetFrom Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles genes with high or low expression in septal nuclei, right relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset. |
lateral septal nucleus, intermedio-ventral part Gene SetFrom Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles genes with high or low expression in lateral septal nucleus, intermedio-ventral part relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset. |
lateral septal nucleus, intermediate part, periventricular Gene SetFrom Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles genes with high or low expression in lateral septal nucleus, intermediate part, periventricular relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset. |
Lateral septal nucleus, caudal (caudodorsal) part Gene SetFrom Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles genes with high or low expression in Lateral septal nucleus, caudal (caudodorsal) part relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset. |
triangular septal nucleus Gene SetFrom Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles genes with high or low expression in triangular septal nucleus relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset. |
Medial septal nucleus Gene SetFrom Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles genes with high or low expression in Medial septal nucleus relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset. |
lambdoid septal zone Gene SetFrom Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles genes with high or low expression in lambdoid septal zone relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset. |
lateral septal nucleus, dorsal part Gene SetFrom Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles genes with high or low expression in lateral septal nucleus, dorsal part relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset. |
Lateral septal complex Gene SetFrom Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles genes with high or low expression in Lateral septal complex relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset. |
Medial septal complex Gene SetFrom Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles genes with high or low expression in Medial septal complex relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset. |
lateral septal nucleus, intermedio-dorsal part Gene SetFrom Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles genes with high or low expression in lateral septal nucleus, intermedio-dorsal part relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset. |
lateral septal nucleus, intermedio-intermediate part Gene SetFrom Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles genes with high or low expression in lateral septal nucleus, intermedio-intermediate part relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset. |
Lateral septal nucleus, rostral (rostroventral) part Gene SetFrom Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles genes with high or low expression in Lateral septal nucleus, rostral (rostroventral) part relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset. |
Lateral septal nucleus Gene SetFrom Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles genes with high or low expression in Lateral septal nucleus relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset. |
Lateral septal nucleus, ventral part Gene SetFrom Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles genes with high or low expression in Lateral septal nucleus, ventral part relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset. |
medial septal nucleus Gene SetFrom Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles genes with high or low expression in medial septal nucleus relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset. |
VZ in septal region Gene SetFrom Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles genes with high or low expression in VZ in septal region relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset. |
lateral septal nucleus Gene SetFrom Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles genes with high or low expression in lateral septal nucleus relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset. |
septal organ Gene SetFrom BioGPS Mouse Cell Type and Tissue Gene Expression Profiles genes with high or low expression in septal organ relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset. |
septal periplasm Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the septal periplasm cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
Heart Septal Defects, Ventricular Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Heart Septal Defects, Ventricular from the curated CTD Gene-Disease Associations dataset. |
Heart Septal Defects Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Heart Septal Defects from the curated CTD Gene-Disease Associations dataset. |
Heart Septal Defects, Atrial Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Heart Septal Defects, Atrial from the curated CTD Gene-Disease Associations dataset. |
septal myocardial infarction Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease septal myocardial infarction in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
atrial fibrillation; heart septal defects Gene SetFrom GAD Gene-Disease Associations genes associated with the disease atrial fibrillation; heart septal defects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
heart defects, congenital; heart septal defects, ventricular; tetralogy of fallot Gene SetFrom GAD Gene-Disease Associations genes associated with the disease heart defects, congenital; heart septal defects, ventricular; tetralogy of fallot in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
heart septal defects, ventricular Gene SetFrom GAD Gene-Disease Associations genes associated with the disease heart septal defects, ventricular in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
heart defects, congenital; heart septal defects, ventricular Gene SetFrom GAD Gene-Disease Associations genes associated with the disease heart defects, congenital; heart septal defects, ventricular in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
heart septal defects, atrial; tetralogy of fallot Gene SetFrom GAD Gene-Disease Associations genes associated with the disease heart septal defects, atrial; tetralogy of fallot in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
ductus arteriosus, patent; heart septal defects, atrial Gene SetFrom GAD Gene-Disease Associations genes associated with the disease ductus arteriosus, patent; heart septal defects, atrial in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital heart defects; down syndrome; heart defects, congenital; heart septal defects Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital heart defects; down syndrome; heart defects, congenital; heart septal defects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
pronounced septal hypertrophy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease pronounced septal hypertrophy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital heart defects; heart defects, congenital; heart septal defects; tetralogy of fallot Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital heart defects; heart defects, congenital; heart septal defects; tetralogy of fallot in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
heart septal defects Gene SetFrom GAD Gene-Disease Associations genes associated with the disease heart septal defects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
heart septal defects, ventricular; hypertension, pulmonary Gene SetFrom GAD Gene-Disease Associations genes associated with the disease heart septal defects, ventricular; hypertension, pulmonary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
septal Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term septal in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
absent nasal septal cartilage Gene SetFrom HPO Gene-Disease Associations genes associated with the absent nasal septal cartilage phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
left ventricular septal hypertrophy Gene SetFrom HPO Gene-Disease Associations genes associated with the left ventricular septal hypertrophy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
asymmetric septal hypertrophy Gene SetFrom HPO Gene-Disease Associations genes associated with the asymmetric septal hypertrophy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
atrial septal aneurysm Gene SetFrom HPO Gene-Disease Associations genes associated with the atrial septal aneurysm phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Heart Septal Defects, Ventricular Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Heart Septal Defects, Ventricular phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Heart Septal Defects Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Heart Septal Defects phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Heart Septal Defects, Atrial Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Heart Septal Defects, Atrial phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
atrial septal aneurysm Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the atrial septal aneurysm phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
lateral septal area Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores proteins co-occuring with the tissue lateral septal area in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset. |
ventral septal area Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores proteins co-occuring with the tissue ventral septal area in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset. |
septal area Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores proteins co-occuring with the tissue septal area in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset. |
Asymmetric Septal Hypertrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Asymmetric Septal Hypertrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Atrial Septal Aneurysm Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Atrial Septal Aneurysm in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Ventricular Septal Hypertrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Ventricular Septal Hypertrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Septal Hypertrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Septal Hypertrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Obstructive Asymmetric Septal Hypertrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Obstructive Asymmetric Septal Hypertrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Absent Nasal Septal Cartilage Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Absent Nasal Septal Cartilage in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Ventricular Septal Rupture Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Ventricular Septal Rupture in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Multiple Ventricular Septal Defects Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Multiple Ventricular Septal Defects in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Atrial Septal Dilatation Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Atrial Septal Dilatation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Left Ventricular Septal Hypertrophy Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Left Ventricular Septal Hypertrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
atrial septal aneurysm Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the atrial septal aneurysm phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
Septal myocardial infarction Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Septal myocardial infarction in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Septal area Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 proteins co-occuring with the tissue Septal area in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. |
Ventral septal area Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 proteins co-occuring with the tissue Ventral septal area in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. |
Lateral septal area Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 proteins co-occuring with the tissue Lateral septal area in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. |
Septal periplasm Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Septal periplasm cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Asymmetric septal hypertrophy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Asymmetric septal hypertrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital heart disease (septal defects) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Congenital heart disease (septal defects) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Protan defect Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Protan defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cardiac conduction defect, nonspecific Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cardiac conduction defect, nonspecific phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Phosphate transport defect Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Phosphate transport defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Neutral 1 amino acid transport defect Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Neutral 1 amino acid transport defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Laron-type isolated somatotropin defect Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Laron-type isolated somatotropin defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Neural tube defect Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Neural tube defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bile acid synthesis defect, congenital, 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bile acid synthesis defect, congenital, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bile acid synthesis defect, congenital, 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bile acid synthesis defect, congenital, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glucose-6-phosphate transport defect Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glucose-6-phosphate transport defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Iodotyrosine deiodination defect Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Iodotyrosine deiodination defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Thrombophilia due to thrombomodulin defect Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Thrombophilia due to thrombomodulin defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Renal carnitine transport defect Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Renal carnitine transport defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Immunodeficiency due to defect in cd3-zeta Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency due to defect in cd3-zeta phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Erythrocyte lactate transporter defect Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Erythrocyte lactate transporter defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital defect of folate absorption Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital defect of folate absorption phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Oocyte maturation defect Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Oocyte maturation defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Immune dysfunction with T-cell inactivation due to calcium entry defect 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Immune dysfunction with T-cell inactivation due to calcium entry defect 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Immune dysfunction with T-cell inactivation due to calcium entry defect 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Immune dysfunction with T-cell inactivation due to calcium entry defect 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Iodotyrosyl coupling defect Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Iodotyrosyl coupling defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Thrombophilia, X-Linked, Due To Factor Ix Defect Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Thrombophilia, X-Linked, Due To Factor Ix Defect from the curated CTD Gene-Disease Associations dataset. |
Sacral defect and anterior sacral meningocele Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Sacral defect and anterior sacral meningocele from the curated CTD Gene-Disease Associations dataset. |
Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type from the curated CTD Gene-Disease Associations dataset. |
Cardiac Conduction Defect Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cardiac Conduction Defect from the curated CTD Gene-Disease Associations dataset. |
Bile acid synthesis defect, congenital, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Bile acid synthesis defect, congenital, 2 from the curated CTD Gene-Disease Associations dataset. |
Bile acid synthesis defect, congenital, 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Bile acid synthesis defect, congenital, 4 from the curated CTD Gene-Disease Associations dataset. |
METHYLMALONIC ACIDURIA DUE TO TRANSCOBALAMIN RECEPTOR DEFECT Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease METHYLMALONIC ACIDURIA DUE TO TRANSCOBALAMIN RECEPTOR DEFECT from the curated CTD Gene-Disease Associations dataset. |
Bile acid synthesis defect, congenital, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Bile acid synthesis defect, congenital, 1 from the curated CTD Gene-Disease Associations dataset. |
Neural tube defect, folate-sensitive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neural tube defect, folate-sensitive from the curated CTD Gene-Disease Associations dataset. |
NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT from the curated CTD Gene-Disease Associations dataset. |
Immunodeficiency due to Defect in CD3-Zeta Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Immunodeficiency due to Defect in CD3-Zeta from the curated CTD Gene-Disease Associations dataset. |
Erythrocyte Lactate Transporter Defect Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Erythrocyte Lactate Transporter Defect from the curated CTD Gene-Disease Associations dataset. |
Immunodeficiency due to Defect in MAPBP-Interacting Protein Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Immunodeficiency due to Defect in MAPBP-Interacting Protein from the curated CTD Gene-Disease Associations dataset. |
Immune dysfunction with T-cell inactivation due to calcium entry defect 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Immune dysfunction with T-cell inactivation due to calcium entry defect 1 from the curated CTD Gene-Disease Associations dataset. |
Immune dysfunction with T-cell inactivation due to calcium entry defect 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Immune dysfunction with T-cell inactivation due to calcium entry defect 2 from the curated CTD Gene-Disease Associations dataset. |
alcohol-related birth defect Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease alcohol-related birth defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital bile acid synthesis defect Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital bile acid synthesis defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
qualitative platelet defect Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease qualitative platelet defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
human spermatogenic defect Gene SetFrom GAD Gene-Disease Associations genes associated with the disease human spermatogenic defect in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
defect Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term defect in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
conotruncal defect Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the conotruncal defect phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
thyroid hormone receptor defect Gene SetFrom HPO Gene-Disease Associations genes associated with the thyroid hormone receptor defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
midline defect of mandible Gene SetFrom HPO Gene-Disease Associations genes associated with the midline defect of mandible phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
vertebral segmentation defect Gene SetFrom HPO Gene-Disease Associations genes associated with the vertebral segmentation defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
electron transfer flavoprotein-ubiquinone oxidoreductase defect Gene SetFrom HPO Gene-Disease Associations genes associated with the electron transfer flavoprotein-ubiquinone oxidoreductase defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
dynein arm defect of respiratory motile cilia Gene SetFrom HPO Gene-Disease Associations genes associated with the dynein arm defect of respiratory motile cilia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
thyroid defect in oxidation and organification of iodide Gene SetFrom HPO Gene-Disease Associations genes associated with the thyroid defect in oxidation and organification of iodide phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
adrenocorticotropin (acth) receptor (acthr) defect Gene SetFrom HPO Gene-Disease Associations genes associated with the adrenocorticotropin (acth) receptor (acthr) defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
sacral segmentation defect Gene SetFrom HPO Gene-Disease Associations genes associated with the sacral segmentation defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
abdominal wall defect Gene SetFrom HPO Gene-Disease Associations genes associated with the abdominal wall defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
visual field defect Gene SetFrom HPO Gene-Disease Associations genes associated with the visual field defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
defect in the atrial septum Gene SetFrom HPO Gene-Disease Associations genes associated with the defect in the atrial septum phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
skull defect Gene SetFrom HPO Gene-Disease Associations genes associated with the skull defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
generalized hypotonia due to defect at the neuromuscular junction Gene SetFrom HPO Gene-Disease Associations genes associated with the generalized hypotonia due to defect at the neuromuscular junction phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
cervical segmentation defect Gene SetFrom HPO Gene-Disease Associations genes associated with the cervical segmentation defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
midline defect of the nose Gene SetFrom HPO Gene-Disease Associations genes associated with the midline defect of the nose phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
large central visual field defect Gene SetFrom HPO Gene-Disease Associations genes associated with the large central visual field defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
conotruncal defect Gene SetFrom HPO Gene-Disease Associations genes associated with the conotruncal defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Mannose-P-dolichol utilization defect 1 protein Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Mannose-P-dolichol utilization defect 1 protein protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
iodide oxidation defect Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the iodide oxidation defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
double outlet right ventricle, ventricular defect committed to aorta Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the double outlet right ventricle, ventricular defect committed to aorta phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
thrombophilia due to thrombomodulin defect Gene SetFrom OMIM Gene-Disease Associations genes associated with the thrombophilia due to thrombomodulin defect phenotype from the curated OMIM Gene-Disease Associations dataset. |
bleeding disorder due to p2rx1 defect Gene SetFrom OMIM Gene-Disease Associations genes associated with the bleeding disorder due to p2rx1 defect phenotype from the curated OMIM Gene-Disease Associations dataset. |
schizophrenia, neurophysiologic defect in Gene SetFrom OMIM Gene-Disease Associations genes associated with the schizophrenia, neurophysiologic defect in phenotype from the curated OMIM Gene-Disease Associations dataset. |
?isolated growth hormone deficiency due to defect in ghrf Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?isolated growth hormone deficiency due to defect in ghrf phenotype from the curated OMIM Gene-Disease Associations dataset. |
erythrocyte lactate transporter defect Gene SetFrom OMIM Gene-Disease Associations genes associated with the erythrocyte lactate transporter defect phenotype from the curated OMIM Gene-Disease Associations dataset. |
natural killer cell and glucocorticoid deficiency with dna repair defect Gene SetFrom OMIM Gene-Disease Associations genes associated with the natural killer cell and glucocorticoid deficiency with dna repair defect phenotype from the curated OMIM Gene-Disease Associations dataset. |
selective t-cell defect Gene SetFrom OMIM Gene-Disease Associations genes associated with the selective t-cell defect phenotype from the curated OMIM Gene-Disease Associations dataset. |
{hypercholesterolemia, familial, due to ldlr defect, modifier of} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {hypercholesterolemia, familial, due to ldlr defect, modifier of} phenotype from the curated OMIM Gene-Disease Associations dataset. |
bile acid synthesis defect, congenital, 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the bile acid synthesis defect, congenital, 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
bile acid synthesis defect, congenital, 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the bile acid synthesis defect, congenital, 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
bile acid synthesis defect, congenital, 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the bile acid synthesis defect, congenital, 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
bile acid synthesis defect, congenital, 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the bile acid synthesis defect, congenital, 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cardiac conduction defect, nonspecific Gene SetFrom OMIM Gene-Disease Associations genes associated with the cardiac conduction defect, nonspecific phenotype from the curated OMIM Gene-Disease Associations dataset. |
rickets due to defect in vitamin d 25-hydroxylation Gene SetFrom OMIM Gene-Disease Associations genes associated with the rickets due to defect in vitamin d 25-hydroxylation phenotype from the curated OMIM Gene-Disease Associations dataset. |
oocyte maturation defect Gene SetFrom OMIM Gene-Disease Associations genes associated with the oocyte maturation defect phenotype from the curated OMIM Gene-Disease Associations dataset. |
methylmalonic aciduria due to transcobalamin receptor defect Gene SetFrom OMIM Gene-Disease Associations genes associated with the methylmalonic aciduria due to transcobalamin receptor defect phenotype from the curated OMIM Gene-Disease Associations dataset. |
thrombophilia, x-linked, due to factor ix defect Gene SetFrom OMIM Gene-Disease Associations genes associated with the thrombophilia, x-linked, due to factor ix defect phenotype from the curated OMIM Gene-Disease Associations dataset. |
immunodeficiency due to defect in mapbp-interacting protein Gene SetFrom OMIM Gene-Disease Associations genes associated with the immunodeficiency due to defect in mapbp-interacting protein phenotype from the curated OMIM Gene-Disease Associations dataset. |
goiter, familial, due to ttf-1 defect Gene SetFrom OMIM Gene-Disease Associations genes associated with the goiter, familial, due to ttf-1 defect phenotype from the curated OMIM Gene-Disease Associations dataset. |
immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection and neoplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection and neoplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
thrombophilia due to thrombin defect Gene SetFrom OMIM Gene-Disease Associations genes associated with the thrombophilia due to thrombin defect phenotype from the curated OMIM Gene-Disease Associations dataset. |
{cardiac conduction defect, susceptibility to} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {cardiac conduction defect, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset. |
methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb complementation type Gene SetFrom OMIM Gene-Disease Associations genes associated with the methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb complementation type phenotype from the curated OMIM Gene-Disease Associations dataset. |
Defective CYP7B1 causes Spastic paraplegia 5A, autosomal recessive (SPG5A) and Congenital bile acid synthesis defect 3 (CBAS3) Gene Setproteins participating in the Defective CYP7B1 causes Spastic paraplegia 5A, autosomal recessive (SPG5A) and Congenital bile acid synthesis defect 3 (CBAS3) pathway from the Reactome Pathways dataset. |
Histidinuria Renal Tubular Defect Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Histidinuria Renal Tubular Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Bile Acid Synthesis Defect Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Bile Acid Synthesis Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Renal Carnitine Transport Defect Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Renal Carnitine Transport Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Alcohol Related Birth Defect Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Alcohol Related Birth Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Glucose-6-Phosphate Transport Defect Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Glucose-6-Phosphate Transport Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Ventilatory Defect Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Ventilatory Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Calvarial Skull Defect Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Calvarial Skull Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Single Ventricle Defect Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Single Ventricle Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Defect Of Skull And Scalp Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Defect Of Skull And Scalp in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Coronary Sinus Defect Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Coronary Sinus Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Muscular Ventricular Septum Defect Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Muscular Ventricular Septum Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Triple Gene Defect Alpha Thalassemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Triple Gene Defect Alpha Thalassemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Defect Of Vertebral Segmentation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Defect Of Vertebral Segmentation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Glycosylphosphatidylinositol Biosynthesis Defect Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Glycosylphosphatidylinositol Biosynthesis Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cardiac Conduction Defect Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cardiac Conduction Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Patent Or Persistent Ostium Secundum Defect (Type Ii) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Patent Or Persistent Ostium Secundum Defect (Type Ii) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Patent Or Persistent Sinus Venosus Defect Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Patent Or Persistent Sinus Venosus Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Antibody Deficiency Due To Defect In Cd19 Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Antibody Deficiency Due To Defect In Cd19 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Conotruncal Defect Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Conotruncal Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Obstructive Ventilatory Defect Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Obstructive Ventilatory Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Synthetic Defect Of Bile Acids Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Synthetic Defect Of Bile Acids in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Bile Acid Synthesis Defect Type 3 Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Bile Acid Synthesis Defect Type 3 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hereditary Bundle Branch System Defect Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hereditary Bundle Branch System Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Midline Defect Of The Nose Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Midline Defect Of The Nose in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Thyroid Hormone Plasma Membrane Transport Defect Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Thyroid Hormone Plasma Membrane Transport Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Defect Of Articular Cartilage Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Defect Of Articular Cartilage in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Thoracoabdominal Wall Defect Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Thoracoabdominal Wall Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Membranous Ventricular Septum Defect Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Membranous Ventricular Septum Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Defect Of The Pericardium Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Defect Of The Pericardium in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Insulin Receptor, Defect In Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Insulin Receptor, Defect In in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Iodide Transport Defect Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Iodide Transport Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neural Tube Defect, Folate-Sensitive Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neural Tube Defect, Folate-Sensitive in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Adenosylcobalamin Synthesis Defect Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Adenosylcobalamin Synthesis Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Oocyte Maturation Defect Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Oocyte Maturation Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Sacral Defect And Anterior Sacral Meningocele Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Sacral Defect And Anterior Sacral Meningocele in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Renal Tubular Defect Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Renal Tubular Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cardiac Valvular Defect, Developmental Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cardiac Valvular Defect, Developmental in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Ulnar-Fibular Ray Defect And Brachydactyly Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Ulnar-Fibular Ray Defect And Brachydactyly in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cardiac Conduction Defect, Nonprogressive Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cardiac Conduction Defect, Nonprogressive in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Corneal Defect Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Corneal Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Fibrinolytic Defect Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Fibrinolytic Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Erythrocyte Lactate Transporter Defect Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Erythrocyte Lactate Transporter Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Mondini Defect Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mondini Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Heart Defect, Tongue Hamartoma And Polysyndactyly Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Heart Defect, Tongue Hamartoma And Polysyndactyly in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Mucociliary Clearance Defect Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mucociliary Clearance Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Adrenocorticotropin Receptor Defect Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Adrenocorticotropin Receptor Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Color Vision Defect Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Color Vision Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Maturation Defect Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Maturation Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Restrictive Ventilatory Defect Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Restrictive Ventilatory Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Heart Defect (In Some Patients) Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Heart Defect (In Some Patients) in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Cardiac Conduction Defect Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Cardiac Conduction Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Retinal Defect Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Retinal Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Glaucomatous Visual Field Defect Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Glaucomatous Visual Field Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Dynein Arm Defect Of Respiratory Motile Cilia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Dynein Arm Defect Of Respiratory Motile Cilia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Generalized Hypotonia Due To Defect At The Neuromuscular Junction Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Generalized Hypotonia Due To Defect At The Neuromuscular Junction in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Iris Transillumination Defect Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Iris Transillumination Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Iodide Organification Defect Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Iodide Organification Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Electron Transfer Flavoprotein-Ubiquinone Oxidoreductase Defect Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Electron Transfer Flavoprotein-Ubiquinone Oxidoreductase Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Cervical Segmentation Defect Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Cervical Segmentation Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Lacrimal Duct Defect Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Lacrimal Duct Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Large Central Visual Field Defect Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Large Central Visual Field Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Afferent Pupillary Defect Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Afferent Pupillary Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Thyroid Defect In Oxidation And Organification Of Iodide Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Thyroid Defect In Oxidation And Organification Of Iodide in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Activating Thyroid-Stimulating Hormone Receptor Defect Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Activating Thyroid-Stimulating Hormone Receptor Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
iodide oxidation defect Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the iodide oxidation defect phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
double outlet right ventricle, ventricular defect committed to aorta Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the double outlet right ventricle, ventricular defect committed to aorta phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
repair of mitotic kinetochore microtubule attachment defect Gene SetFrom GO Biological Process Annotations 2025 genes participating in the repair of mitotic kinetochore microtubule attachment defect biological process from the curated GO Biological Process Annotations 2025 dataset. |
Neural tube defect Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Neural tube defect from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Congenital bile acid synthesis defect Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Congenital bile acid synthesis defect from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Congenital bile acid synthesis defect 2 Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Congenital bile acid synthesis defect 2 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Neural tube defect Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Neural tube defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital bile acid synthesis defect Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital bile acid synthesis defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital bile acid synthesis defect 5 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital bile acid synthesis defect 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Glycosylphosphatidylinositol biosynthesis defect 16 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Glycosylphosphatidylinositol biosynthesis defect 16 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Thrombophilia due to thrombin defect Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Thrombophilia due to thrombin defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Qualitative platelet defect Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Qualitative platelet defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital bile acid synthesis defect 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital bile acid synthesis defect 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital bile acid synthesis defect 3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital bile acid synthesis defect 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Joubert syndrome with orofaciodigital defect Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Joubert syndrome with orofaciodigital defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
X-linked thrombophilia due to factor IX defect Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease X-linked thrombophilia due to factor IX defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental cardiac valvular defect Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental cardiac valvular defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital bile acid synthesis defect 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital bile acid synthesis defect 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
hypotrichosis-lymphedema-telangiectasia-renal defect syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease hypotrichosis-lymphedema-telangiectasia-renal defect syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Thrombophilia due to thrombomodulin defect Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Thrombophilia due to thrombomodulin defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Nerve fibre bundle defect Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Nerve fibre bundle defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Combined oxidative phosphorylation defect Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined oxidative phosphorylation defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Thyroglobulin synthesis defect Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Thyroglobulin synthesis defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Iodotyrosine deiodination defect Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Iodotyrosine deiodination defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital defect of folate absorption Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital defect of folate absorption phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Neutral 1 amino acid transport defect Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Neutral 1 amino acid transport defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital bile acid synthesis defect Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital bile acid synthesis defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Thrombophilia due to thrombin defect Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Thrombophilia due to thrombin defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Iris transillumination defect Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Iris transillumination defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hepatoencephalopathy due to combined oxidative phosphorylation defect Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hepatoencephalopathy due to combined oxidative phosphorylation defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Fatal mitochondrial disease due to combined oxidative phosphorylation defect Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Fatal mitochondrial disease due to combined oxidative phosphorylation defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Renal carnitine transport defect Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Renal carnitine transport defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Glucose-6-phosphate transport defect Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Glucose-6-phosphate transport defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Phosphate transport defect Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Phosphate transport defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Peroxisome biogenesis disorder due to PEX1 defect Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Peroxisome biogenesis disorder due to PEX1 defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Laron- somatotropin defect Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Laron- somatotropin defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Color vision defect Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Color vision defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Protan defect Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Protan defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Iodotyrosyl coupling defect Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Iodotyrosyl coupling defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
MPV17-related mitochondrial DNA maintenance defect Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the MPV17-related mitochondrial DNA maintenance defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Neural tube defect Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Neural tube defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Gastrointestinal defect and immunodeficiency syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Gastrointestinal defect and immunodeficiency syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Single Ventricle Defect Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Single Ventricle Defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Heart defect - tongue hamartoma - polysyndactyly syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Heart defect - tongue hamartoma - polysyndactyly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Metabolic myopathy due to lactate transporter defect Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Metabolic myopathy due to lactate transporter defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Methylmalonic acidemia due to transcobalamin receptor defect Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Methylmalonic acidemia due to transcobalamin receptor defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Sacral defect Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Sacral defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Bile acid conjugation defect Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Bile acid conjugation defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Ulnar/fibula ray defect-brachydactyly syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Ulnar/fibula ray defect-brachydactyly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Immunodeficiency due to defect in CD3-gamma Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Immunodeficiency due to defect in CD3-gamma phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Thyroid Hormonogenesis Defect Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Thyroid Hormonogenesis Defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Oocyte maturation defect Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Oocyte maturation defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Glycosylphosphatidylinositol biosynthesis defect Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Glycosylphosphatidylinositol biosynthesis defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Inherited oocyte maturation defect Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Inherited oocyte maturation defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Progressive retinal dystrophy due to retinol transport defect Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Progressive retinal dystrophy due to retinol transport defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Cardiac valvular defect Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Cardiac valvular defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Juvenile arthritis due to defect in LA Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Juvenile arthritis due to defect in LA phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Female infertility due to zona pellucida defect Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Female infertility due to zona pellucida defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Left ventricular obstructive tract defect (inherited effect) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Left ventricular obstructive tract defect (inherited effect) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Left ventricular obstructive tract defect (maternal effect) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Left ventricular obstructive tract defect (maternal effect) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |