pseudohyperkalemia, familial, 2, due to red cell leak

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Results for "pseudohyperkalemia, familial, 2, due to red cell leak": 1003 gene sets

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Pseudohyperkalemia, Familial, 2, due to Red Cell Leak Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Pseudohyperkalemia, Familial, 2, due to Red Cell Leak from the curated CTD Gene-Disease Associations dataset.
pseudohyperkalemia, familial, 2, due to red cell leak Gene Set From OMIM Gene-Disease Associations genes associated with the pseudohyperkalemia, familial, 2, due to red cell leak phenotype from the curated OMIM Gene-Disease Associations dataset.
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
THROMBOPHILIA, FAMILIAL, DUE TO DECREASED RELEASE OF TISSUE PLASMINOGEN ACTIVATOR;THPH9 HYPERFIBRINOLYSIS, FAMILIAL, DUE TO INCREASED RELEASE OF TISSUE PLASMINOGEN Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease THROMBOPHILIA, FAMILIAL, DUE TO DECREASED RELEASE OF TISSUE PLASMINOGEN ACTIVATOR;THPH9 HYPERFIBRINOLYSIS, FAMILIAL, DUE TO INCREASED RELEASE OF TISSUE PLASMINOGEN from the curated CTD Gene-Disease Associations dataset.
Familial Pseudohyperkalemia Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Familial Pseudohyperkalemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Familial pseudohyperkalemia Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Familial pseudohyperkalemia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
red vs non-red hair color Gene Set From GAD Gene-Disease Associations genes associated with the disease red vs non-red hair color in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
red, far-red light phototransduction Gene Set From GO Biological Process Annotations 2015 genes participating in the red, far-red light phototransduction biological process from the curated GO Biological Process Annotations 2015 dataset.
Red vs non-red hair color Gene Set From GWAS Catalog SNP-Phenotype Associations genes associated with the Red vs non-red hair color phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.
Red vs non-red hair color Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Red vs non-red hair color phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Red vs. non-red hair color Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Red vs. non-red hair color phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, and Perinatal Edema Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, and Perinatal Edema from the curated CTD Gene-Disease Associations dataset.
dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema Gene Set From OMIM Gene-Disease Associations genes associated with the dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema phenotype from the curated OMIM Gene-Disease Associations dataset.
Pseudohyperkalemia Cardiff Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Pseudohyperkalemia Cardiff in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, And Perinatal Edema Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, And Perinatal Edema in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
anemia due to reduced life span of red cells Gene Set From GWASdb SNP-Phenotype Associations genes associated with the anemia due to reduced life span of red cells phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.
anemia due to reduced life span of red cells Gene Set From HPO Gene-Disease Associations genes associated with the anemia due to reduced life span of red cells phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
obesity, adrenal insufficiency, and red hair due to pomc deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the obesity, adrenal insufficiency, and red hair due to pomc deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
Capillary Leak Syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Capillary Leak Syndrome from the curated CTD Gene-Disease Associations dataset.
capillary leak syndrome Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease capillary leak syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
leak Gene Set From GeneRIF Biological Term Annotations genes co-occuring with the biological term leak in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
potassium ion leak channel activity Gene Set From GO Molecular Function Annotations 2015 genes performing the potassium ion leak channel activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
leak channel activity Gene Set From GO Molecular Function Annotations 2015 genes performing the leak channel activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
Anastomotic Leak Gene Set From HuGE Navigator Gene-Phenotype Associations genes associated with the Anastomotic Leak phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.
Sodium leak channel non-selective protein Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Sodium leak channel non-selective protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Capillary Leak Syndrome Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Capillary Leak Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Clinical Capillary Leak Syndrome Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Clinical Capillary Leak Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
potassium ion leak channel activity Gene Set From GO Molecular Function Annotations 2023 genes performing the potassium ion leak channel activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.
leak channel activity Gene Set From GO Molecular Function Annotations 2023 genes performing the leak channel activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.
potassium ion leak channel activity Gene Set From GO Molecular Function Annotations 2025 genes performing the potassium ion leak channel activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.
leak channel activity Gene Set From GO Molecular Function Annotations 2025 genes performing the leak channel activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.
Capillary leak syndrome Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Capillary leak syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Red blood cell density in sickle cell anemia Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Red blood cell density in sickle cell anemia phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Alloimmunization response to red blood cell transfusion in sickle cell anemia Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Alloimmunization response to red blood cell transfusion in sickle cell anemia phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
thrombophilia, familial, due to decreased release of plat Gene Set From OMIM Gene-Disease Associations genes associated with the thrombophilia, familial, due to decreased release of plat phenotype from the curated OMIM Gene-Disease Associations dataset.
{hypercholesterolemia, familial, due to ldlr defect, modifier of} Gene Set From 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.
goiter, familial, due to ttf-1 defect Gene Set From OMIM Gene-Disease Associations genes associated with the goiter, familial, due to ttf-1 defect phenotype from the curated OMIM Gene-Disease Associations dataset.
hyperfibrinolysis, familial, due to increased release of plat Gene Set From OMIM Gene-Disease Associations genes associated with the hyperfibrinolysis, familial, due to increased release of plat phenotype from the curated OMIM Gene-Disease Associations dataset.
Hypercholesterolemia, Familial, Due To Ligand-Defective Apolipoprotein B Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Hypercholesterolemia, Familial, Due To Ligand-Defective Apolipoprotein B in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Familial hyperthyroidism due to mutations in TSH receptor Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Familial hyperthyroidism due to mutations in TSH receptor phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Primary familial polycythemia due to EPO receptor mutation Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Primary familial polycythemia due to EPO receptor mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Renal tubular acidosis, distal, with normal red cell morphology Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Renal tubular acidosis, distal, with normal red cell morphology phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Red-Cell Aplasia, Pure Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Red-Cell Aplasia, Pure from the curated CTD Gene-Disease Associations dataset.
pure red-cell aplasia Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease pure red-cell aplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
red cell folate concentrations Gene Set From GAD Gene-Disease Associations genes associated with the disease red cell folate concentrations in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
anemia; kidney diseases; red-cell aplasia, pure Gene Set From GAD Gene-Disease Associations genes associated with the disease anemia; kidney diseases; red-cell aplasia, pure in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
red-cell aplasia, pure Gene Set From GAD Gene-Disease Associations genes associated with the disease red-cell aplasia, pure in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
folic acid in plasma and red blood cell folate Gene Set From GAD Gene-Disease Associations genes associated with the disease folic acid in plasma and red blood cell folate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
Red blood cell traits Gene Set From GWAS Catalog SNP-Phenotype Associations genes associated with the Red blood cell traits phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.
Red blood cell count Gene Set From GWAS Catalog SNP-Phenotype Associations genes associated with the Red blood cell count phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.
increased red cell sickling tendency Gene Set From GWASdb SNP-Phenotype Associations genes associated with the increased red cell sickling tendency phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.
increased red cell osmotic fragility Gene Set From HPO Gene-Disease Associations genes associated with the increased red cell osmotic fragility phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
increased red cell sickling tendency Gene Set From HPO Gene-Disease Associations genes associated with the increased red cell sickling tendency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
increased red cell osmotic resistance Gene Set From HPO Gene-Disease Associations genes associated with the increased red cell osmotic resistance phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
increased red cell hemolysis by shear stress Gene Set From HPO Gene-Disease Associations genes associated with the increased red cell hemolysis by shear stress phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
increased red blood cell mass Gene Set From HPO Gene-Disease Associations genes associated with the increased red blood cell mass phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
abnormal red blood cell distribution width Gene Set From MPO Gene-Phenotype Associations gene mutations causing the abnormal red blood cell distribution width phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
decreased red blood cell distribution width Gene Set From MPO Gene-Phenotype Associations gene mutations causing the decreased red blood cell distribution width phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
abnormal red blood cell deformability Gene Set From MPO Gene-Phenotype Associations gene mutations causing the abnormal red blood cell deformability phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
increased red blood cell distribution width Gene Set From MPO Gene-Phenotype Associations gene mutations causing the increased red blood cell distribution width phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
Pure Red-Cell Aplasia Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Pure Red-Cell Aplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Red Cell Adenylate Kinase Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Red Cell Adenylate Kinase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Splenic Diffuse Red Pulp Small B-Cell Lymphoma Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Splenic Diffuse Red Pulp Small B-Cell Lymphoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Rdw - Red Blood Cell Distribution Width Result Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Rdw - Red Blood Cell Distribution Width Result in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Red Blood Cell Count Measurement Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Red Blood Cell Count Measurement in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Red Cell Distribution Width Determination Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Red Cell Distribution Width Determination in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Reduced Red Cell Adenosine Deaminase Activity Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Reduced Red Cell Adenosine Deaminase Activity in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Increased Red Cell Osmotic Fragility Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Increased Red Cell Osmotic Fragility in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Increased Red Blood Cell Mass Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Increased Red Blood Cell Mass in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Increased Red Cell Sickling Tendency Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Increased Red Cell Sickling Tendency in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Increased Red Cell Hemolysis By Shear Stress Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Increased Red Cell Hemolysis By Shear Stress in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Reduced Red Cell Pyruvate Kinase Activity Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Reduced Red Cell Pyruvate Kinase Activity in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Elevated Red Cell Adenosine Deaminase Activity Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Elevated Red Cell Adenosine Deaminase Activity in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Increased Red Cell Osmotic Resistance Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Increased Red Cell Osmotic Resistance in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
increased red blood cell distribution width Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the increased red blood cell distribution width phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
abnormal red blood cell deformability Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal red blood cell deformability phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
decreased red blood cell distribution width Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the decreased red blood cell distribution width phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
abnormal red blood cell distribution width Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal red blood cell distribution width phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
increased red blood cell distribution width Gene Set From IMPC Knockout Mouse Phenotypes gene knockouts causing the increased red blood cell distribution width phenotype in mic from the IMPC Knockout Mouse Phenotypes dataset.
decreased red blood cell distribution width Gene Set From IMPC Knockout Mouse Phenotypes gene knockouts causing the decreased red blood cell distribution width phenotype in mic from the IMPC Knockout Mouse Phenotypes dataset.
abnormal red blood cell distribution width Gene Set From IMPC Knockout Mouse Phenotypes gene knockouts causing the abnormal red blood cell distribution width phenotype in mic from the IMPC Knockout Mouse Phenotypes dataset.
Red blood cell (erythrocyte)_Airway_Human Gene Set From CellMarker Gene-Cell Type Associations genes associated with the Red blood cell (erythrocyte)_Airway_Human cell type from the CellMarker Gene-Cell Type Associations dataset.
Red blood cell (erythrocyte)_Blood_Human Gene Set From CellMarker Gene-Cell Type Associations genes associated with the Red blood cell (erythrocyte)_Blood_Human cell type from the CellMarker Gene-Cell Type Associations dataset.
Red blood cell (erythrocyte)_Plasma_Human Gene Set From CellMarker Gene-Cell Type Associations genes associated with the Red blood cell (erythrocyte)_Plasma_Human cell type from the CellMarker Gene-Cell Type Associations dataset.
Red blood cell (erythrocyte)_Blood_Mouse Gene Set From CellMarker Gene-Cell Type Associations genes associated with the Red blood cell (erythrocyte)_Blood_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset.
Red blood cell (erythrocyte)_Peripheral blood_Human Gene Set From CellMarker Gene-Cell Type Associations genes associated with the Red blood cell (erythrocyte)_Peripheral blood_Human cell type from the CellMarker Gene-Cell Type Associations dataset.
Red blood cell (erythrocyte)_Bone_Mouse Gene Set From CellMarker Gene-Cell Type Associations genes associated with the Red blood cell (erythrocyte)_Bone_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset.
Red blood cell (erythrocyte)_Bone marrow_Mouse Gene Set From CellMarker Gene-Cell Type Associations genes associated with the Red blood cell (erythrocyte)_Bone marrow_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset.
Red blood cell (erythrocyte)_Bone marrow_Human Gene Set From CellMarker Gene-Cell Type Associations genes associated with the Red blood cell (erythrocyte)_Bone marrow_Human cell type from the CellMarker Gene-Cell Type Associations dataset.
Red blood cell (erythrocyte)_Brain_Human Gene Set From CellMarker Gene-Cell Type Associations genes associated with the Red blood cell (erythrocyte)_Brain_Human cell type from the CellMarker Gene-Cell Type Associations dataset.
Red blood cell (erythrocyte)_Breast_Human Gene Set From CellMarker Gene-Cell Type Associations genes associated with the Red blood cell (erythrocyte)_Breast_Human cell type from the CellMarker Gene-Cell Type Associations dataset.
Red blood cell (erythrocyte)_Skeletal muscle_Human Gene Set From CellMarker Gene-Cell Type Associations genes associated with the Red blood cell (erythrocyte)_Skeletal muscle_Human cell type from the CellMarker Gene-Cell Type Associations dataset.
Red blood cell (erythrocyte)_Heart_Mouse Gene Set From CellMarker Gene-Cell Type Associations genes associated with the Red blood cell (erythrocyte)_Heart_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset.
Red blood cell (erythrocyte)_Kidney_Mouse Gene Set From CellMarker Gene-Cell Type Associations genes associated with the Red blood cell (erythrocyte)_Kidney_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset.
Red blood cell (erythrocyte)_Liver_Human Gene Set From CellMarker Gene-Cell Type Associations genes associated with the Red blood cell (erythrocyte)_Liver_Human cell type from the CellMarker Gene-Cell Type Associations dataset.
Red blood cell (erythrocyte)_Lung_Human Gene Set From CellMarker Gene-Cell Type Associations genes associated with the Red blood cell (erythrocyte)_Lung_Human cell type from the CellMarker Gene-Cell Type Associations dataset.
Red blood cell (erythrocyte)_Ovary_Mouse Gene Set From CellMarker Gene-Cell Type Associations genes associated with the Red blood cell (erythrocyte)_Ovary_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset.
Red blood cell (erythrocyte)_Placenta_Human Gene Set From CellMarker Gene-Cell Type Associations genes associated with the Red blood cell (erythrocyte)_Placenta_Human cell type from the CellMarker Gene-Cell Type Associations dataset.
Red blood cell (erythrocyte)_Salivary gland_Human Gene Set From CellMarker Gene-Cell Type Associations genes associated with the Red blood cell (erythrocyte)_Salivary gland_Human cell type from the CellMarker Gene-Cell Type Associations dataset.
Red blood cell (erythrocyte)_Skin_Human Gene Set From CellMarker Gene-Cell Type Associations genes associated with the Red blood cell (erythrocyte)_Skin_Human cell type from the CellMarker Gene-Cell Type Associations dataset.
Red blood cell (erythrocyte)_Blood vessel_Human Gene Set From CellMarker Gene-Cell Type Associations genes associated with the Red blood cell (erythrocyte)_Blood vessel_Human cell type from the CellMarker Gene-Cell Type Associations dataset.
Red blood cell (erythrocyte)_Undefined_Human Gene Set From CellMarker Gene-Cell Type Associations genes associated with the Red blood cell (erythrocyte)_Undefined_Human cell type from the CellMarker Gene-Cell Type Associations dataset.
Red blood cell (erythrocyte)_Undefined_Mouse Gene Set From CellMarker Gene-Cell Type Associations genes associated with the Red blood cell (erythrocyte)_Undefined_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset.
Red blood cell (erythrocyte)_Ectocervix_Human Gene Set From CellMarker Gene-Cell Type Associations genes associated with the Red blood cell (erythrocyte)_Ectocervix_Human cell type from the CellMarker Gene-Cell Type Associations dataset.
Spleen_CT2_Splenic Red Pulp Stromal Cell Gene Set From HuBMAP ASCT+B Annotations biomarker genes for the Spleen_CT2_Splenic Red Pulp Stromal Cell cell type from the HuBMAP ASCT+B dataset.
Spleen_CT2_Splenic Red Pulp Stromal Cell Gene Set From HuBMAP ASCT+B Augmented with RNA-seq Coexpression biomarker genes for the Spleen_CT2_Splenic Red Pulp Stromal Cell cell type from the HuBMAP ASCT+B Augmented with RNA-seq Coexpression dataset.
Pure red-cell aplasia Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Pure red-cell aplasia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Pure red-cell aplasia Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Pure red-cell aplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Red blood cell count Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Red blood cell count phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Red cell distribution width Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Red cell distribution width phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Red blood cell traits Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Red blood cell traits phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Red blood cell fatty acid levels Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Red blood cell fatty acid levels phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Red blood cell folate levels Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Red blood cell folate levels phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Interleukin-6 (red blood cell fatty acid level interaction) Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Interleukin-6 (red blood cell fatty acid level interaction) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Intercellular adhesion molecule 1 (red blood cell fatty acid level interaction) Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Intercellular adhesion molecule 1 (red blood cell fatty acid level interaction) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Monocyte chemoattractant protein-1 (red blood cell fatty acid level interaction) Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Monocyte chemoattractant protein-1 (red blood cell fatty acid level interaction) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Tumor necrosis factor receptor II (red blood cell fatty acid level interaction) Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Tumor necrosis factor receptor II (red blood cell fatty acid level interaction) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
C-reactive protein (red blood cell fatty acid level interaction) Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the C-reactive protein (red blood cell fatty acid level interaction) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
amyloidosis, familial; familial mediterranean fever Gene Set From GAD Gene-Disease Associations genes associated with the disease amyloidosis, familial; familial mediterranean fever in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
albuminuria; amyloidosis, familial; familial mediterranean fever Gene Set From GAD Gene-Disease Associations genes associated with the disease albuminuria; amyloidosis, familial; familial mediterranean fever in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
multiple familial trichoepithelioma and familial cylindromatosis Gene Set From GAD Gene-Disease Associations genes associated with the disease multiple familial trichoepithelioma and familial cylindromatosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
amyloidosis, familial; familial mediterranean fever; Gene Set From GAD Gene-Disease Associations genes associated with the disease amyloidosis, familial; familial mediterranean fever; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
familial hemiplegic migraine and benign familial infantile convulsions Gene Set From GAD Gene-Disease Associations genes associated with the disease familial hemiplegic migraine and benign familial infantile convulsions in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
red nucleus, right Gene Set From Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles genes with high or low expression in red nucleus, right relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
red nucleus, left Gene Set From Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles genes with high or low expression in red nucleus, left relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
red nucleus, parvicellular part Gene Set From Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles genes with high or low expression in red nucleus, parvicellular part relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
Red nucleus Gene Set From Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles genes with high or low expression in Red nucleus relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
red nucleus, magnocellular part Gene Set From Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles genes with high or low expression in red nucleus, magnocellular part relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
red nucleus Gene Set From Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles genes with high or low expression in red nucleus relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
Ruthenium Red Gene Set From CTD Gene-Chemical Interactions genes/proteins interacting with the chemical Ruthenium Red from the curated CTD Gene-Chemical Interactions dataset.
Alizarin Red S Gene Set From CTD Gene-Chemical Interactions genes/proteins interacting with the chemical Alizarin Red S from the curated CTD Gene-Chemical Interactions dataset.
Allura Red AC Dye Gene Set From CTD Gene-Chemical Interactions genes/proteins interacting with the chemical Allura Red AC Dye from the curated CTD Gene-Chemical Interactions dataset.
Scarlet Red Gene Set From CTD Gene-Chemical Interactions genes/proteins interacting with the chemical Scarlet Red from the curated CTD Gene-Chemical Interactions dataset.
Congo Red Gene Set From CTD Gene-Chemical Interactions genes/proteins interacting with the chemical Congo Red from the curated CTD Gene-Chemical Interactions dataset.
Pyruvate Kinase Deficiency of Red Cells Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Pyruvate Kinase Deficiency of Red Cells from the curated CTD Gene-Disease Associations dataset.
red color blindness Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease red color blindness in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
red-green color blindness Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease red-green color blindness in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
black vs red hair color Gene Set From GAD Gene-Disease Associations genes associated with the disease black vs red hair color in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
red Gene Set From GeneRIF Biological Term Annotations genes co-occuring with the biological term red in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
ruthenium red Gene Set From Guide to Pharmacology Chemical Ligands of Receptors receptors of the ruthenium red ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.
Black vs. red hair color Gene Set From GWAS Catalog SNP-Phenotype Associations genes associated with the Black vs. red hair color phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.
red hair Gene Set From GWASdb SNP-Phenotype Associations genes associated with the red hair phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.
cherry red spot of the macula Gene Set From HPO Gene-Disease Associations genes associated with the cherry red spot of the macula phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
red hair Gene Set From HPO Gene-Disease Associations genes associated with the red hair phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
ragged-red muscle fibers Gene Set From HPO Gene-Disease Associations genes associated with the ragged-red muscle fibers phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
red-green dyschromatopsia Gene Set From HPO Gene-Disease Associations genes associated with the red-green dyschromatopsia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
RED-like, N-terminal Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the RED-like, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Protein RED, C-terminal Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Protein RED, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Opsin red/green sensitive Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Opsin red/green sensitive protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Sensitivity To Red Light Reduced-like, SRR1 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Sensitivity To Red Light Reduced-like, SRR1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
increased spleen red pulp amount Gene Set From MPO Gene-Phenotype Associations gene mutations causing the increased spleen red pulp amount phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
abnormal spleen red pulp morphology Gene Set From MPO Gene-Phenotype Associations gene mutations causing the abnormal spleen red pulp morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
intermingled spleen red and white pulp Gene Set From MPO Gene-Phenotype Associations gene mutations causing the intermingled spleen red and white pulp phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
decreased spleen red pulp amount Gene Set From MPO Gene-Phenotype Associations gene mutations causing the decreased spleen red pulp amount phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
absent red nucleus Gene Set From MPO Gene-Phenotype Associations gene mutations causing the absent red nucleus phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
abnormal red nucleus morphology Gene Set From MPO Gene-Phenotype Associations gene mutations causing the abnormal red nucleus morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
[skin/hair/eye pigmentation 2, red hair/fair skin] Gene Set From OMIM Gene-Disease Associations genes associated with the [skin/hair/eye pigmentation 2, red hair/fair skin] phenotype from the curated OMIM Gene-Disease Associations dataset.
red bone marrow Gene Set From TISSUES Text-mining Tissue Protein Expression Evidence Scores proteins co-occuring with the tissue red bone marrow in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.
Red Man Syndrome Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Red Man Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Ragged-Red Muscle Fibers Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Ragged-Red Muscle Fibers in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Cherry Red Spot Of The Macula Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Cherry Red Spot Of The Macula in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Increased Level Of Galactitol In Red Blood Cells Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Increased Level Of Galactitol In Red Blood Cells in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Increased Level Of Galactonate In Red Blood Cells Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Increased Level Of Galactonate In Red Blood Cells in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Florid Red Complexion (Finding) Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Florid Red Complexion (Finding) in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Red Hair Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Red Hair in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Red, Cracking, Peeling Skin At Birth Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Red, Cracking, Peeling Skin At Birth in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
abnormal spleen red pulp morphology Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal spleen red pulp morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
increased spleen red pulp amount Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the increased spleen red pulp amount phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
decreased spleen red pulp amount Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the decreased spleen red pulp amount phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
abnormal red nucleus morphology Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal red nucleus morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
intermingled spleen red and white pulp Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the intermingled spleen red and white pulp phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
absent red nucleus Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the absent red nucleus phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
Red pulp macrophage_Bone_Mouse Gene Set From CellMarker Gene-Cell Type Associations genes associated with the Red pulp macrophage_Bone_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset.
Pyruvate kinase deficiency of red cells Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Pyruvate kinase deficiency of red cells from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
red-green color blindness Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease red-green color blindness in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Red color blindness Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Red color blindness in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Pyruvate kinase deficiency of red cells Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Pyruvate kinase deficiency of red cells in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Red bone marrow Gene Set From TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 proteins co-occuring with the tissue Red bone marrow in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.
red.1 Gene Set From TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 proteins co-occuring with the tissue red.1 in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.
Pyruvate kinase deficiency of red cells Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Pyruvate kinase deficiency of red cells phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
High light scatter reticulocyte percentage of red cells Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the High light scatter reticulocyte percentage of red cells phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Reticulocyte fraction of red cells Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Reticulocyte fraction of red cells phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Red wine liking Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Red wine liking phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Black vs. red hair color Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Black vs. red hair color phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Red vs. brown/black hair color Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Red vs. brown/black hair color phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
CONGO RED FREE ACID Gene Set From DGIdb Drug Targets 2026 interacting proteins for the CONGO RED FREE ACID drug from theDGIdb Drug Targets 2026 dataset.
PYROGALLOL RED Gene Set From DGIdb Drug Targets 2026 interacting proteins for the PYROGALLOL RED drug from theDGIdb Drug Targets 2026 dataset.
NILE RED Gene Set From DGIdb Drug Targets 2026 interacting proteins for the NILE RED drug from theDGIdb Drug Targets 2026 dataset.
SCARLET RED Gene Set From DGIdb Drug Targets 2026 interacting proteins for the SCARLET RED drug from theDGIdb Drug Targets 2026 dataset.
RUTHENIUM RED Gene Set From DGIdb Drug Targets 2026 interacting proteins for the RUTHENIUM RED drug from theDGIdb Drug Targets 2026 dataset.
TETRAZOLIUM RED Gene Set From DGIdb Drug Targets 2026 interacting proteins for the TETRAZOLIUM RED drug from theDGIdb Drug Targets 2026 dataset.
BROMOPYROGALLOL RED Gene Set From DGIdb Drug Targets 2026 interacting proteins for the BROMOPYROGALLOL RED drug from theDGIdb Drug Targets 2026 dataset.
adenocarcinoma; carcinoma, large cell; carcinoma, small cell; carcinoma, squamous cell; lung neoplasms; neoplasm of lung ; small cell carcinoma of lung; squamous cell carcinoma Gene Set From GAD Gene-Disease Associations genes associated with the disease adenocarcinoma; carcinoma, large cell; carcinoma, small cell; carcinoma, squamous cell; lung neoplasms; neoplasm of lung ; small cell carcinoma of lung; squamous cell carcinoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
cerebellar purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation Gene Set From GO Biological Process Annotations 2015 genes participating in the cerebellar purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation biological process from the curated GO Biological Process Annotations 2015 dataset.
cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation Gene Set From GO Biological Process Annotations 2023 genes participating in the cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation biological process from the curated GO Biological Process Annotations 2023 dataset.
Immune dysfunction with T-cell inactivation due to calcium entry defect 1 Gene Set From 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 Set From 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.
Immune dysfunction with T-cell inactivation due to calcium entry defect 1 Gene Set From 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 Set From 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.
Diabetes (Mellitus) Due To Immune Mediated Pancreatic Islet Beta-Cell Destruction Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Diabetes (Mellitus) Due To Immune Mediated Pancreatic Islet Beta-Cell Destruction in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Aberrant regulation of mitotic cell cycle due to RB1 defects Gene Set From Reactome Pathways 2024 proteins participating in the Aberrant regulation of mitotic cell cycle due to RB1 defects pathway from the Reactome Pathways 2024 dataset.
familial non-ret c cell hyperplasia Gene Set From GAD Gene-Disease Associations genes associated with the disease familial non-ret c cell hyperplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
renal cell carcinoma, papillary, 1, familial and somatic Gene Set From OMIM Gene-Disease Associations genes associated with the renal cell carcinoma, papillary, 1, familial and somatic phenotype from the curated OMIM Gene-Disease Associations dataset.
Familial Testicular Germ Cell Tumor Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Familial Testicular Germ Cell Tumor in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Familial Renal Cell Carcinoma Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Familial Renal Cell Carcinoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Natural Killer Cell Deficiency, Familial Isolated Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Natural Killer Cell Deficiency, Familial Isolated in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Familial squamous cell lung carcinoma Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Familial squamous cell lung carcinoma phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
carcinoma, basal cell; carcinoma, squamous cell; neoplasms, second primary; skin basal cell carcinoma; skin neoplasms; squamous cell carcinoma Gene Set From GAD Gene-Disease Associations genes associated with the disease carcinoma, basal cell; carcinoma, squamous cell; neoplasms, second primary; skin basal cell carcinoma; skin neoplasms; squamous cell carcinoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
carcinoma, basal cell; carcinoma, squamous cell; cocarcinogenesis; neoplasms, radiation-induced; skin basal cell carcinoma; skin neoplasms; squamous cell carcinoma; sunburn Gene Set From GAD Gene-Disease Associations genes associated with the disease carcinoma, basal cell; carcinoma, squamous cell; cocarcinogenesis; neoplasms, radiation-induced; skin basal cell carcinoma; skin neoplasms; squamous cell carcinoma; sunburn in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
carcinoma, basal cell; carcinoma, squamous cell; melanoma; skin basal cell carcinoma; skin neoplasms; squamous cell carcinoma Gene Set From GAD Gene-Disease Associations genes associated with the disease carcinoma, basal cell; carcinoma, squamous cell; melanoma; skin basal cell carcinoma; skin neoplasms; squamous cell carcinoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
b-cell lymphomas; lymphoma, b-cell; lymphoma, large b-cell, diffuse; lymphoma, large-cell, diffuse Gene Set From GAD Gene-Disease Associations genes associated with the disease b-cell lymphomas; lymphoma, b-cell; lymphoma, large b-cell, diffuse; lymphoma, large-cell, diffuse in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
adenocarcinoma; carcinoma, large cell; carcinoma, non-small-cell lung; carcinoma, squamous cell; lung neoplasms; neoplasm of lung ; squamous cell carcinoma Gene Set From GAD Gene-Disease Associations genes associated with the disease adenocarcinoma; carcinoma, large cell; carcinoma, non-small-cell lung; carcinoma, squamous cell; lung neoplasms; neoplasm of lung ; squamous cell carcinoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
carcinoma, basal cell; carcinoma, squamous cell; dna damage; skin basal cell carcinoma; skin neoplasms; squamous cell carcinoma Gene Set From GAD Gene-Disease Associations genes associated with the disease carcinoma, basal cell; carcinoma, squamous cell; dna damage; skin basal cell carcinoma; skin neoplasms; squamous cell carcinoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
carcinoma, basal cell; carcinoma, squamous cell; postoperative complications; skin basal cell carcinoma; skin neoplasms; squamous cell carcinoma Gene Set From GAD Gene-Disease Associations genes associated with the disease carcinoma, basal cell; carcinoma, squamous cell; postoperative complications; skin basal cell carcinoma; skin neoplasms; squamous cell carcinoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
carcinoma, basal cell; carcinoma, squamous cell; skin basal cell carcinoma; skin neoplasms; squamous cell carcinoma Gene Set From GAD Gene-Disease Associations genes associated with the disease carcinoma, basal cell; carcinoma, squamous cell; skin basal cell carcinoma; skin neoplasms; squamous cell carcinoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
adenocarcinoma; carcinoma, small cell; carcinoma, squamous cell; lung neoplasms; neoplasm of lung ; small cell carcinoma of lung; squamous cell carcinoma Gene Set From GAD Gene-Disease Associations genes associated with the disease adenocarcinoma; carcinoma, small cell; carcinoma, squamous cell; lung neoplasms; neoplasm of lung ; small cell carcinoma of lung; squamous cell carcinoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
carcinoma, basal cell; carcinoma, squamous cell; melanoma; skin basal cell carcinoma; skin neoplasms; squamous cell carcinoma; sunburn Gene Set From GAD Gene-Disease Associations genes associated with the disease carcinoma, basal cell; carcinoma, squamous cell; melanoma; skin basal cell carcinoma; skin neoplasms; squamous cell carcinoma; sunburn in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
carcinoma, basal cell; carcinoma, squamous cell; melanoma; postoperative complications; skin basal cell carcinoma; skin neoplasms; squamous cell carcinoma Gene Set From GAD Gene-Disease Associations genes associated with the disease carcinoma, basal cell; carcinoma, squamous cell; melanoma; postoperative complications; skin basal cell carcinoma; skin neoplasms; squamous cell carcinoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
adenocarcinoma; carcinoma, giant cell; carcinoma, large cell; carcinoma, non-small-cell lung; carcinoma, squamous cell; lung neoplasms; neoplasm recurrence, local Gene Set From GAD Gene-Disease Associations genes associated with the disease adenocarcinoma; carcinoma, giant cell; carcinoma, large cell; carcinoma, non-small-cell lung; carcinoma, squamous cell; lung neoplasms; neoplasm recurrence, local in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
cell-cell signaling involved in cell-cell junction organization Gene Set From GO Biological Process Annotations 2015 genes participating in the cell-cell signaling involved in cell-cell junction organization biological process from the curated GO Biological Process Annotations 2015 dataset.
non-small cell large cell lung carcinoma; non-small cell squamous cell lung carcinoma Gene Set From PhosphoSitePlus Phosphosite-Disease Associations proteins associated with the disease non-small cell large cell lung carcinoma; non-small cell squamous cell lung carcinoma from the curated PhosphoSitePlus Phosphosite-Disease Associations dataset.
Carbonic anhydrase va deficiency, hyperammonemia due to Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Carbonic anhydrase va deficiency, hyperammonemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
SCID due to ADA deficiency, delayed onset Gene Set From ClinVar Gene-Phenotype Associations genes associated with the SCID due to ADA deficiency, delayed onset phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Thrombophilia due to protein S deficiency, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Thrombophilia due to protein S deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Severe combined immunodeficiency due to ADA deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Severe combined immunodeficiency due to ADA deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
HNSHA due to aldolase A deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the HNSHA due to aldolase A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Ehlers-Danlos-like syndrome due to tenascin-X deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos-like syndrome due to tenascin-X deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Gaucher disease, atypical, due to saposin C deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Gaucher disease, atypical, due to saposin C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Megaloblastic anemia due to inborn errors of metabolism Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Megaloblastic anemia due to inborn errors of metabolism phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hemolytic anemia due to hexokinase deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hemolytic anemia due to hexokinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Leigh syndrome due to mitochondrial complex I deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Leigh syndrome due to mitochondrial complex I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Homocysteinemia due to MTHFR deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Homocysteinemia due to MTHFR deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Immunodeficiency due to ficolin 3 deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency due to ficolin 3 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Thrombophilia due to activated protein C resistance Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Thrombophilia due to activated protein C resistance phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hypermethioninemia due to adenosine kinase deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hypermethioninemia due to adenosine kinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Pseudohermaphroditism, female, with hypokalemia, due to glucocorticoid resistance Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Pseudohermaphroditism, female, with hypokalemia, due to glucocorticoid resistance phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Thrombophilia due to thrombomodulin defect Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Thrombophilia due to thrombomodulin defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Muscular dystrophy, congenital, due to ITGA7 deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Muscular dystrophy, congenital, due to ITGA7 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Immunodeficiency due to defect in cd3-zeta Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency due to defect in cd3-zeta phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Homocystinuria due to MTHFR deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Homocystinuria due to MTHFR deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Leigh syndrome due to mitochondrial complex II deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Leigh syndrome due to mitochondrial complex II deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Complement component 4, partial deficiency of, due to dysfunctional c1 inhibitor Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Complement component 4, partial deficiency of, due to dysfunctional c1 inhibitor phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type Gene Set From 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 muscular dystrophy due to partial LAMA2 deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy due to partial LAMA2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Megaloblastic anemia due to dihydrofolate reductase deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Megaloblastic anemia due to dihydrofolate reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Obesity, severe, due to leptin deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Obesity, severe, due to leptin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Adenylate kinase deficiency, hemolytic anemia due to Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Adenylate kinase deficiency, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Congenital adrenal hyperplasia due to 21 hydroxylase deficiency from the curated CTD Gene-Disease Associations dataset.
Thrombophilia, X-Linked, Due To Factor Ix Defect Gene Set From 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.
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY from the curated CTD Gene-Disease Associations dataset.
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency from the curated CTD Gene-Disease Associations dataset.
Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type Gene Set From 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.
Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to from the curated CTD Gene-Disease Associations dataset.
Congenital thrombotic disease, due to Protein C deficiency Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Congenital thrombotic disease, due to Protein C deficiency from the curated CTD Gene-Disease Associations dataset.
ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO from the curated CTD Gene-Disease Associations dataset.
Adenylate Kinase Deficiency, Hemolytic Anemia Due To Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Adenylate Kinase Deficiency, Hemolytic Anemia Due To from the curated CTD Gene-Disease Associations dataset.
Neurodegeneration Due To Cerebral Folate Transport Deficiency Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Neurodegeneration Due To Cerebral Folate Transport Deficiency from the curated CTD Gene-Disease Associations dataset.
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT from the curated CTD Gene-Disease Associations dataset.
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency from the curated CTD Gene-Disease Associations dataset.
Severe combined immunodeficiency due to adenosine deaminase deficiency Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Severe combined immunodeficiency due to adenosine deaminase deficiency from the curated CTD Gene-Disease Associations dataset.
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency from the curated CTD Gene-Disease Associations dataset.
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to from the curated CTD Gene-Disease Associations dataset.
METHYLMALONIC ACIDURIA DUE TO TRANSCOBALAMIN RECEPTOR DEFECT Gene Set From 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.
Krabbe Disease, Atypical, due to Saposin A Deficiency Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Krabbe Disease, Atypical, due to Saposin A Deficiency from the curated CTD Gene-Disease Associations dataset.
HEPATIC FIBROSIS, SEVERE, SUSCEPTIBILITY TO, DUE TO SCHISTOSOMA MANSONI INFECTION Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease HEPATIC FIBROSIS, SEVERE, SUSCEPTIBILITY TO, DUE TO SCHISTOSOMA MANSONI INFECTION from the curated CTD Gene-Disease Associations dataset.
Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency from the curated CTD Gene-Disease Associations dataset.
Gaucher Disease, Atypical, Due To Saposin C Deficiency Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Gaucher Disease, Atypical, Due To Saposin C Deficiency from the curated CTD Gene-Disease Associations dataset.
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to from the curated CTD Gene-Disease Associations dataset.
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations from the curated CTD Gene-Disease Associations dataset.
Thrombophilia Due To Elevated Histidine-Rich Glycoprotein Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Thrombophilia Due To Elevated Histidine-Rich Glycoprotein from the curated CTD Gene-Disease Associations dataset.
Thrombophilia due to Activated Protein C Resistance Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Thrombophilia due to Activated Protein C Resistance from the curated CTD Gene-Disease Associations dataset.
THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.
Immunodeficiency due to Defect in CD3-Zeta Gene Set From 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.
Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency from the curated CTD Gene-Disease Associations dataset.
Metachromatic Leukodystrophy due to Saposin B Deficiency Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Metachromatic Leukodystrophy due to Saposin B Deficiency from the curated CTD Gene-Disease Associations dataset.
Immunodeficiency due to Defect in MAPBP-Interacting Protein Gene Set From 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.
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY from the curated CTD Gene-Disease Associations dataset.
thrombocytopenia due to platelet alloimmunization Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease thrombocytopenia due to platelet alloimmunization in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
pneumoconiosis due to talc Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease pneumoconiosis due to talc in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
hereditary spastic paraparesis due to a frame shift mutat Gene Set From GAD Gene-Disease Associations genes associated with the disease hereditary spastic paraparesis due to a frame shift mutat in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
depressed suicide; suicide due to depression Gene Set From GAD Gene-Disease Associations genes associated with the disease depressed suicide; suicide due to depression in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
due Gene Set From GeneRIF Biological Term Annotations genes co-occuring with the biological term due in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
decreased cervical spine flexion due to contractures of posterior cervical muscles Gene Set From HPO Gene-Disease Associations genes associated with the decreased cervical spine flexion due to contractures of posterior cervical muscles phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
restricted neck movement due to contractures Gene Set From HPO Gene-Disease Associations genes associated with the restricted neck movement due to contractures phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
chronic rhinitis due to narrow nasal airway Gene Set From HPO Gene-Disease Associations genes associated with the chronic rhinitis due to narrow nasal airway phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
osteomyelitis due to immunodeficiency Gene Set From HPO Gene-Disease Associations genes associated with the osteomyelitis due to immunodeficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
osteomyelitis or necrosis, distal, due to sensory neuropathy (feet) Gene Set From HPO Gene-Disease Associations genes associated with the osteomyelitis or necrosis, distal, due to sensory neuropathy (feet) phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
bowing of limbs due to multiple fractures Gene Set From HPO Gene-Disease Associations genes associated with the bowing of limbs due to multiple fractures phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
respiratory insufficiency due to muscle weakness Gene Set From HPO Gene-Disease Associations genes associated with the respiratory insufficiency due to muscle weakness phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
osteomyelitis leading to amputation due to slow healing fractures Gene Set From HPO Gene-Disease Associations genes associated with the osteomyelitis leading to amputation due to slow healing fractures phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
weakness due to upper motor neuron dysfunction Gene Set From HPO Gene-Disease Associations genes associated with the weakness due to upper motor neuron dysfunction phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
self-mutilation of tongue and lips due to involuntary movements Gene Set From HPO Gene-Disease Associations genes associated with the self-mutilation of tongue and lips due to involuntary movements phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
respiratory insufficiency due to defective ciliary clearance Gene Set From HPO Gene-Disease Associations genes associated with the respiratory insufficiency due to defective ciliary clearance phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
recurrent infections due to aspiration Gene Set From HPO Gene-Disease Associations genes associated with the recurrent infections due to aspiration 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 Set From 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.
chronic hepatitis due to cryptospridium infection Gene Set From HPO Gene-Disease Associations genes associated with the chronic hepatitis due to cryptospridium infection phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
subperiosteal erosions due to secondary hyperparathyroidism Gene Set From HPO Gene-Disease Associations genes associated with the subperiosteal erosions due to secondary hyperparathyroidism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
painless fractures due to injury Gene Set From HPO Gene-Disease Associations genes associated with the painless fractures due to injury phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
hepatic abscesses due to immunodeficiency Gene Set From HPO Gene-Disease Associations genes associated with the hepatic abscesses due to immunodeficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
cellulitis due to immunodeficiency Gene Set From HPO Gene-Disease Associations genes associated with the cellulitis due to immunodeficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
decreased sweating due to autonomic dysfunction Gene Set From HPO Gene-Disease Associations genes associated with the decreased sweating due to autonomic dysfunction phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
intermittent episodes of respiratory insufficiency due to muscle weakness Gene Set From HPO Gene-Disease Associations genes associated with the intermittent episodes of respiratory insufficiency due to muscle weakness phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
orthostatic hypotension due to autonomic dysfunction Gene Set From HPO Gene-Disease Associations genes associated with the orthostatic hypotension due to autonomic dysfunction phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
{chronic infections, due to mbl deficiency} Gene Set From OMIM Gene-Disease Associations genes associated with the {chronic infections, due to mbl deficiency} phenotype from the curated OMIM Gene-Disease Associations dataset.
{hepatic fibrosis susceptibility due to schistosoma mansoni infection} Gene Set From OMIM Gene-Disease Associations genes associated with the {hepatic fibrosis susceptibility due to schistosoma mansoni infection} phenotype from the curated OMIM Gene-Disease Associations dataset.
thrombophilia due to hrg deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the thrombophilia due to hrg deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
thrombophilia due to thrombomodulin defect Gene Set From OMIM Gene-Disease Associations genes associated with the thrombophilia due to thrombomodulin defect phenotype from the curated OMIM Gene-Disease Associations dataset.
severe combined immunodeficiency due to il2 deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the severe combined immunodeficiency due to il2 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
thrombophilia due to protein s deficiency, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the thrombophilia due to protein s deficiency, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
bleeding disorder due to p2rx1 defect Gene Set From OMIM Gene-Disease Associations genes associated with the bleeding disorder due to p2rx1 defect phenotype from the curated OMIM Gene-Disease Associations dataset.
hemolytic anemia due to phosphofructokinase deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the hemolytic anemia due to phosphofructokinase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
nephropathy due to cfhr5 deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the nephropathy due to cfhr5 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
encephalopahty, lethal, due to defective mitochondrial peroxisomal fission Gene Set From OMIM Gene-Disease Associations genes associated with the encephalopahty, lethal, due to defective mitochondrial peroxisomal fission phenotype from the curated OMIM Gene-Disease Associations dataset.
megaloblastic anemia due to dihydrofolate reductase deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the megaloblastic anemia due to dihydrofolate reductase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
thrombophilia due to protein s deficiency, autosomal dominant Gene Set From OMIM Gene-Disease Associations genes associated with the thrombophilia due to protein s deficiency, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.
chronic granulomatous disease, autosomal, due to deficiency of cyba Gene Set From OMIM Gene-Disease Associations genes associated with the chronic granulomatous disease, autosomal, due to deficiency of cyba phenotype from the curated OMIM Gene-Disease Associations dataset.
?isolated growth hormone deficiency due to defect in ghrf Gene Set From 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.
thrombophilia due to heparin cofactor ii deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the thrombophilia due to heparin cofactor ii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
obesity, morbid, due to leptin receptor deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the obesity, morbid, due to leptin receptor deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
hypercholesterolemia, due to ligand-defective apo b Gene Set From OMIM Gene-Disease Associations genes associated with the hypercholesterolemia, due to ligand-defective apo b phenotype from the curated OMIM Gene-Disease Associations dataset.
glucocorticoid deficiency, due to acth unresponsiveness Gene Set From OMIM Gene-Disease Associations genes associated with the glucocorticoid deficiency, due to acth unresponsiveness phenotype from the curated OMIM Gene-Disease Associations dataset.
disordered steroidogenesis due to cytochrome p450 oxidoreductase Gene Set From OMIM Gene-Disease Associations genes associated with the disordered steroidogenesis due to cytochrome p450 oxidoreductase phenotype from the curated OMIM Gene-Disease Associations dataset.
hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
muscular dystrophy, congenital, due to partial lama2 deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the muscular dystrophy, congenital, due to partial lama2 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
hemorrhagic diathesis due to 'antithrombin' pittsburgh Gene Set From OMIM Gene-Disease Associations genes associated with the hemorrhagic diathesis due to 'antithrombin' pittsburgh phenotype from the curated OMIM Gene-Disease Associations dataset.
immunodeficiency due to purine nucleoside phosphorylase deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the immunodeficiency due to purine nucleoside phosphorylase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
hemolytic anemia due to glutathione peroxidase deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the hemolytic anemia due to glutathione peroxidase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia Gene Set From OMIM Gene-Disease Associations genes associated with the hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia phenotype from the curated OMIM Gene-Disease Associations dataset.
thrombophilia due to protein c deficiency, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the thrombophilia due to protein c deficiency, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
lacticacidemia due to pdx1 deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the lacticacidemia due to pdx1 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
ehlers-danlos syndrome, autosomal recessive, due to tenascin x deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the ehlers-danlos syndrome, autosomal recessive, due to tenascin x deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
omphalocele due to duplication of 1p31.3 Gene Set From OMIM Gene-Disease Associations genes associated with the omphalocele due to duplication of 1p31.3 phenotype from the curated OMIM Gene-Disease Associations dataset.
muscular dystrophy, congenital, due to itga7 deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the muscular dystrophy, congenital, due to itga7 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
anemia, hemolytic, due to umph1 deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the anemia, hemolytic, due to umph1 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
homocystinuria due to mthfr deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the homocystinuria due to mthfr deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
severe combined immunodeficiency due to ada deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the severe combined immunodeficiency due to ada deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
leigh syndrome due to mitochondrial complex i deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the leigh syndrome due to mitochondrial complex i deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
thrombophilia due to protein c deficiency, autosomal dominant Gene Set From OMIM Gene-Disease Associations genes associated with the thrombophilia due to protein c deficiency, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.
adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
cirrhosis due to liver phosphorylase kinase deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the cirrhosis due to liver phosphorylase kinase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
metachromatic leukodystrophy due to sap-b deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the metachromatic leukodystrophy due to sap-b deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
gigantism due to ghrf hypersecretion Gene Set From OMIM Gene-Disease Associations genes associated with the gigantism due to ghrf hypersecretion phenotype from the curated OMIM Gene-Disease Associations dataset.
obesity, morbid, due to leptin deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the obesity, morbid, due to leptin deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
leigh syndrome, due to cox deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the leigh syndrome, due to cox deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
macrocytic anemia, refractory, due to 5q deletion, somatic Gene Set From OMIM Gene-Disease Associations genes associated with the macrocytic anemia, refractory, due to 5q deletion, somatic phenotype from the curated OMIM Gene-Disease Associations dataset.
growth retardation with deafness and mental retardation due to igf1 deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the growth retardation with deafness and mental retardation due to igf1 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
hyperammonemia due to carbonic anhydrase va deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the hyperammonemia due to carbonic anhydrase va deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
hemolytic anemia due to g6pd deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the hemolytic anemia due to g6pd deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
hemolytic anemia due to glutathione synthetase deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the hemolytic anemia due to glutathione synthetase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase i/iii deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase i/iii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
{drug-induced liver injury due to flucloxacillin} Gene Set From OMIM Gene-Disease Associations genes associated with the {drug-induced liver injury due to flucloxacillin} phenotype from the curated OMIM Gene-Disease Associations dataset.
thrombophilia due to activated protein c resistance Gene Set From OMIM Gene-Disease Associations genes associated with the thrombophilia due to activated protein c resistance phenotype from the curated OMIM Gene-Disease Associations dataset.
?male pseudohermaphroditism due to defective lh Gene Set From OMIM Gene-Disease Associations genes associated with the ?male pseudohermaphroditism due to defective lh phenotype from the curated OMIM Gene-Disease Associations dataset.
hydrocephalus due to aqueductal stenosis Gene Set From OMIM Gene-Disease Associations genes associated with the hydrocephalus due to aqueductal stenosis phenotype from the curated OMIM Gene-Disease Associations dataset.
bare lymphocyte syndrome, type i, due to tap2 deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the bare lymphocyte syndrome, type i, due to tap2 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
thrombophilia due to elevated hrg Gene Set From OMIM Gene-Disease Associations genes associated with the thrombophilia due to elevated hrg phenotype from the curated OMIM Gene-Disease Associations dataset.
hemolytic anemia due to adenylate kinase deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the hemolytic anemia due to adenylate kinase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
hemolytic anemia due to glutathione reductase deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the hemolytic anemia due to glutathione reductase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
emphysema due to aat deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the emphysema due to aat deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
thrombophilia due to antithrombin iii deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the thrombophilia due to antithrombin iii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
erythrocytosis due to bisphosphoglycerate mutase deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the erythrocytosis due to bisphosphoglycerate mutase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
thalassemia due to hb lepore Gene Set From OMIM Gene-Disease Associations genes associated with the thalassemia due to hb lepore phenotype from the curated OMIM Gene-Disease Associations dataset.
rickets due to defect in vitamin d 25-hydroxylation Gene Set From 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.
aica-ribosiduria due to atic deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the aica-ribosiduria due to atic deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
hypoaldosteronism, congenital, due to cmo i deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the hypoaldosteronism, congenital, due to cmo i deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
leigh syndrome due to mitochondrial cox4 deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the leigh syndrome due to mitochondrial cox4 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
methylmalonic aciduria due to transcobalamin receptor defect Gene Set From OMIM Gene-Disease Associations genes associated with the methylmalonic aciduria due to transcobalamin receptor defect phenotype from the curated OMIM Gene-Disease Associations dataset.
chronic granulomatous disease due to deficiency of ncf-2 Gene Set From OMIM Gene-Disease Associations genes associated with the chronic granulomatous disease due to deficiency of ncf-2 phenotype from the curated OMIM Gene-Disease Associations dataset.
chronic granulomatous disease due to deficiency of ncf-1 Gene Set From OMIM Gene-Disease Associations genes associated with the chronic granulomatous disease due to deficiency of ncf-1 phenotype from the curated OMIM Gene-Disease Associations dataset.
cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 Gene Set From OMIM Gene-Disease Associations genes associated with the cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 phenotype from the curated OMIM Gene-Disease Associations dataset.
cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 Gene Set From OMIM Gene-Disease Associations genes associated with the cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 phenotype from the curated OMIM Gene-Disease Associations dataset.
thrombophilia, x-linked, due to factor ix defect Gene Set From 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.
hypermethioninemia due to adenosine kinase deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the hypermethioninemia due to adenosine kinase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
{thrombophilia, susceptibility to, due to factor v leiden} Gene Set From OMIM Gene-Disease Associations genes associated with the {thrombophilia, susceptibility to, due to factor v leiden} phenotype from the curated OMIM Gene-Disease Associations dataset.
dystonia, dopa-responsive, due to sepiapterin reductase deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the dystonia, dopa-responsive, due to sepiapterin reductase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
immunodeficiency due to defect in mapbp-interacting protein Gene Set From 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.
leigh syndrome due to cytochrome c oxidase deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the leigh syndrome due to cytochrome c oxidase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
pyogenic bacterial infections, recurrent, due to myd88 deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the pyogenic bacterial infections, recurrent, due to myd88 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
neurodegeneration due to cerebral folate transport deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the neurodegeneration due to cerebral folate transport deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
thrombophilia due to thrombin defect Gene Set From OMIM Gene-Disease Associations genes associated with the thrombophilia due to thrombin defect phenotype from the curated OMIM Gene-Disease Associations dataset.
immunodeficiency due to ficolin 3 deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the immunodeficiency due to ficolin 3 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
leigh syndrome due to mitochondrial complex 1 deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the leigh syndrome due to mitochondrial complex 1 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
hemolytic anemia due to triosephosphate isomerase deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the hemolytic anemia due to triosephosphate isomerase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
{resistance to malaria due to g6pd deficiency} Gene Set From OMIM Gene-Disease Associations genes associated with the {resistance to malaria due to g6pd deficiency} phenotype from the curated OMIM Gene-Disease Associations dataset.
hemolytic anemia due to hexokinase deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the hemolytic anemia due to hexokinase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
hemosiderosis, systemic, due to aceruloplasminemia Gene Set From OMIM Gene-Disease Associations genes associated with the hemosiderosis, systemic, due to aceruloplasminemia phenotype from the curated OMIM Gene-Disease Associations dataset.
myopathy due to cpt ii deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the myopathy due to cpt ii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
emphysema-cirrhosis, due to aat deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the emphysema-cirrhosis, due to aat deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
hypoaldosteronism, congenital, due to cmo ii deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the hypoaldosteronism, congenital, due to cmo ii deficiency 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 Set From 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.
?male infertility due to acrosin deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the ?male infertility due to acrosin deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
myopathy due to myoadenylate deaminase deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the myopathy due to myoadenylate deaminase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
Defective GCLC causes Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (HAGGSD) Gene Set From Reactome Pathways 2014 proteins participating in the Defective GCLC causes Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (HAGGSD) pathway from the Reactome Pathways dataset.
Apoptosis-related network due to altered Notch3 in ovarian cancer(Homo sapiens) Gene Set From WikiPathways Pathways 2014 proteins participating in the Apoptosis-related network due to altered Notch3 in ovarian cancer(Homo sapiens) pathway from the WikiPathways Pathways 2014 dataset.
Malignant Hyperpyrexia Due To Anesthesia Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Malignant Hyperpyrexia Due To Anesthesia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Functional Diarrhoea (Due To Spastic Colon) Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Functional Diarrhoea (Due To Spastic Colon) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Peripheral Neuropathy Due To And Following Chemotherapy Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Peripheral Neuropathy Due To And Following Chemotherapy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Hemolytic Disease Of Fetus Or Newborn Due To Abo Immunization Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Hemolytic Disease Of Fetus Or Newborn Due To Abo Immunization in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Viral Gastroenteritis Due To Rotavirus Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Viral Gastroenteritis Due To Rotavirus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Dementia Due To Alzheimer'S Disease (Disorder) Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Dementia Due To Alzheimer'S Disease (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Whooping Cough Due To Unspecified Organism Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Whooping Cough Due To Unspecified Organism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Osteopenia Due To Disuse Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Osteopenia Due To Disuse in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Scid Due To Ada Deficiency, Early-Onset Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Scid Due To Ada Deficiency, Early-Onset in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Hypermethioninemia Due To Adenosine Kinase Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Hypermethioninemia Due To Adenosine Kinase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Disease Due To Parvoviridae Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Disease Due To Parvoviridae in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Chronic Respiratory Disease Due To Mycoplasma Gallisepticum Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Chronic Respiratory Disease Due To Mycoplasma Gallisepticum in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Differentiation Syndrome Due To And Following Chemotherapy Co-Occurrent With Acute Promyelocytic Leukemia Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Differentiation Syndrome Due To And Following Chemotherapy Co-Occurrent With Acute Promyelocytic Leukemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Primary Adenocarcinoma Of Lower Third Of Esophagus Due To Barrett Esophagus Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Primary Adenocarcinoma Of Lower Third Of Esophagus Due To Barrett Esophagus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Addison'S Disease Due To Autoimmunity Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Addison'S Disease Due To Autoimmunity in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Adenylate Kinase Deficiency, Hemolytic Anemia Due To Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Adenylate Kinase Deficiency, Hemolytic Anemia Due To in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Eye Disorder Due To Diabetes Mellitus Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Eye Disorder Due To Diabetes Mellitus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Ketoacidosis Due To Acute Alcohol Intoxication Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Ketoacidosis Due To Acute Alcohol Intoxication in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Human Anaplasmosis Due To Anaplasma Phagocytophilum Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Human Anaplasmosis Due To Anaplasma Phagocytophilum in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
End Stage Renal Disease Due To Hypertension Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease End Stage Renal Disease Due To Hypertension in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Male Infertility With Teratozoospermia Due To Single Gene Mutation Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Male Infertility With Teratozoospermia Due To Single Gene Mutation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Hydrops Fetalis Due To Alpha Thalassemia Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Hydrops Fetalis Due To Alpha Thalassemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Leigh Syndrome Due To Mitochondrial Complex I Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Leigh Syndrome Due To Mitochondrial Complex I Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Disease Due To Acanthocephala Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Disease Due To Acanthocephala in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Fast Acetylator Due To N-Acetyltransferase Enzyme Variant Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Fast Acetylator Due To N-Acetyltransferase Enzyme Variant in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Antibody Deficiency Due To Defect In Cd19 Gene Set From 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.
Disease Due To Neisseria Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Disease Due To Neisseria in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Osteomyelitis Due To Staphylococcus Aureus Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Osteomyelitis Due To Staphylococcus Aureus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Chronic Hepatitis Due To Cryptosporidium Infection Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Chronic Hepatitis Due To Cryptosporidium Infection in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Hemosiderosis, Systemic, Due To Aceruloplasminemia Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Hemosiderosis, Systemic, Due To Aceruloplasminemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Infection Due To Brucella Suis Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Infection Due To Brucella Suis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Neuronal Ceroid Lipofuscinosis Due To Cathepsin D Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Neuronal Ceroid Lipofuscinosis Due To Cathepsin D Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Intestinal Obstruction Co-Occurrent And Due To Decreased Peristalsis Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Intestinal Obstruction Co-Occurrent And Due To Decreased Peristalsis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Slow Acetylator Due To N-Acetyltransferase Enzyme Variant Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Slow Acetylator Due To N-Acetyltransferase Enzyme Variant in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Body Skin Hyperlaxity Due To Vitamin K Dependent Coagulation Factor Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Body Skin Hyperlaxity Due To Vitamin K Dependent Coagulation Factor Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Recurrent Infections Due To Aspiration Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Recurrent Infections Due To Aspiration in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Congenital Duodenal Obstruction Due To Malrotation Of Intestine Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Congenital Duodenal Obstruction Due To Malrotation Of Intestine in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Krabbe Disease, Atypical, Due To Saposin A Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Krabbe Disease, Atypical, Due To Saposin A Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Infection Due To Mycobacterium Kansasii Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Infection Due To Mycobacterium Kansasii in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Hydronephrosis Due To Pujo Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Hydronephrosis Due To Pujo in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Thyrotoxicosis Due To Pituitary Thyroid Hormone Resistance Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Thyrotoxicosis Due To Pituitary Thyroid Hormone Resistance in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Glutathione Peroxidase Deficiency, Hemolytic Anemia Possibly Due To Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Glutathione Peroxidase Deficiency, Hemolytic Anemia Possibly Due To in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Hemolytic Anemia Due To Hexokinase Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Hemolytic Anemia Due To Hexokinase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Disseminated Due To Other Mycobacteria Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Disseminated Due To Other Mycobacteria in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Diabetes (Mellitus) Due To Autoimmune Process Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Diabetes (Mellitus) Due To Autoimmune Process in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Primary Immunodeficiency Syndrome Due To P14 Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Primary Immunodeficiency Syndrome Due To P14 Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Congenital Scoliosis Due To Bony Malformation Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Congenital Scoliosis Due To Bony Malformation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Severe Neonatal Lactic Acidosis Due To Nfs1-Isd11 Complex Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Severe Neonatal Lactic Acidosis Due To Nfs1-Isd11 Complex Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Infection Due To Vancomycin Resistant Staphylococcus Aureus Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Infection Due To Vancomycin Resistant Staphylococcus Aureus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Severe Early-Onset Axonal Neuropathy Due To Mitofusin 2 Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Severe Early-Onset Axonal Neuropathy Due To Mitofusin 2 Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Acute Renal Failure Due To Ischemia Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Acute Renal Failure Due To Ischemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Dementia Due To Parkinson'S Disease Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Dementia Due To Parkinson'S Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Urticaria Due To Cold And Heat Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Urticaria Due To Cold And Heat in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Urticaria Due To Cold Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Urticaria Due To Cold in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Pseudohermaphroditism, Female, With Hypokalemia, Due To Glucocorticoid Resistance Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Pseudohermaphroditism, Female, With Hypokalemia, Due To Glucocorticoid Resistance in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Hypercoagulability Syndrome Due To Glycosylphosphatidylinositol Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Hypercoagulability Syndrome Due To Glycosylphosphatidylinositol Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Acute Bronchitis Due To Respiratory Syncytial Virus Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Acute Bronchitis Due To Respiratory Syncytial Virus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Irritant Contact Dermatitis Due To Incontinence Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Irritant Contact Dermatitis Due To Incontinence in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Congenital Thrombotic Disease, Due To Protein C Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Congenital Thrombotic Disease, Due To Protein C Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Gaucher Disease, Atypical, Due To Saposin C Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Gaucher Disease, Atypical, Due To Saposin C Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Metachromatic Leukodystrophy Due To Saposin B Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Metachromatic Leukodystrophy Due To Saposin B Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Hemolytic Disease Of Fetus Or Newborn Due To Rhd Isoimmunization Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Hemolytic Disease Of Fetus Or Newborn Due To Rhd Isoimmunization in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Extraoral Halitosis Due To Methanethiol Oxidase Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Extraoral Halitosis Due To Methanethiol Oxidase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Complement Component 4, Partial Deficiency Of, Due To Dysfunctional C1 Inhibitor Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Complement Component 4, Partial Deficiency Of, Due To Dysfunctional C1 Inhibitor in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Dermatophilosis Due To Dermatophilus Congolensis Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Dermatophilosis Due To Dermatophilus Congolensis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Perinatal Jaundice Due To Inspissated Bile Syndrome Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Perinatal Jaundice Due To Inspissated Bile Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Zinc Deficiency, Neonatal, Due To Low Breast Milk Zinc Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Zinc Deficiency, Neonatal, Due To Low Breast Milk Zinc in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Infection Due To Clostridium Chauvoei Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Infection Due To Clostridium Chauvoei in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Developmental And Speech Delay Due To Sox5 Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Developmental And Speech Delay Due To Sox5 Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Chronic Rhinitis Due To Narrow Nasal Airway Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Chronic Rhinitis Due To Narrow Nasal Airway in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Adult-Onset Distal Myopathy Due To Valosin Containing Protein Mutation Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Adult-Onset Distal Myopathy Due To Valosin Containing Protein Mutation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Osteomalacia Due To Vitamin D Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Osteomalacia Due To Vitamin D Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Polycythemia Due To Erythropoietin Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Polycythemia Due To Erythropoietin in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Polycythemia Due To Excess Erythopoetin Production Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Polycythemia Due To Excess Erythopoetin Production in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Polycythemia Due To Fall In Plasma Volume Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Polycythemia Due To Fall In Plasma Volume in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Polycythemia Due To High Altitude Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Polycythemia Due To High Altitude in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Polycythemia Due To Stress Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Polycythemia Due To Stress in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Distal Muscle Atrophy Due To Neurologic Disease Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Distal Muscle Atrophy Due To Neurologic Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Respiratory Insufficiency Due To Muscle Weakness Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Respiratory Insufficiency Due To Muscle Weakness in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Intermittent Episodes Of Respiratory Insufficiency Due To Muscle Weakness Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Intermittent Episodes Of Respiratory Insufficiency Due To Muscle Weakness in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Psychomotor Retardation Due To S-Adenosylhomocysteine Hydrolase Deficiency Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Psychomotor Retardation Due To S-Adenosylhomocysteine Hydrolase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Respiratory Insufficiency Due To Defective Ciliary Clearance Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Respiratory Insufficiency Due To Defective Ciliary Clearance in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Orthostatic Hypotension Due To Autonomic Dysfunction Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Orthostatic Hypotension Due To Autonomic Dysfunction in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Osteomyelitis Leading To Amputation Due To Slow Healing Fractures Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Osteomyelitis Leading To Amputation Due To Slow Healing Fractures in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Chromosomal Mosaicism Due To Mitotic Instability Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Chromosomal Mosaicism Due To Mitotic Instability in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Weakness Due To Upper Motor Neuron Dysfunction Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Weakness Due To Upper Motor Neuron Dysfunction in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Cephalhematoma Due To Birth Trauma Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Cephalhematoma Due To Birth Trauma in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Generalized Hypotonia Due To Defect At The Neuromuscular Junction Gene Set From 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.
Bowing Of Limbs Due To Multiple Fractures Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Bowing Of Limbs Due To Multiple Fractures in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Restricted Neck Movement Due To Contractures Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Restricted Neck Movement Due To Contractures in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Decreased Cervical Spine Flexion Due To Contractures Of Posterior Cervical Muscles Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Decreased Cervical Spine Flexion Due To Contractures Of Posterior Cervical Muscles in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Painless Fractures Due To Injury Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Painless Fractures Due To Injury in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Decreased Sweating Due To Autonomic Dysfunction Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Decreased Sweating Due To Autonomic Dysfunction in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Acanthocytosis Due To Band 3 Ht Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Acanthocytosis Due To Band 3 Ht in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Self-Mutilation Of Tongue And Lips Due To Involuntary Movements Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Self-Mutilation Of Tongue And Lips Due To Involuntary Movements in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Apoptosis related network due to altered Notch3 in ovarian cancer Gene Set From WikiPathways Pathways 2024 proteins participating in the Apoptosis related network due to altered Notch3 in ovarian cancer pathway from the WikiPathways Pathways 2024 dataset.
Aberrant regulation of mitotic G1/S transition in cancer due to RB1 defects Gene Set From Reactome Pathways 2024 proteins participating in the Aberrant regulation of mitotic G1/S transition in cancer due to RB1 defects pathway from the Reactome Pathways 2024 dataset.
Aberrant regulation of mitotic exit in cancer due to RB1 defects Gene Set From Reactome Pathways 2024 proteins participating in the Aberrant regulation of mitotic exit in cancer due to RB1 defects pathway from the Reactome Pathways 2024 dataset.
Defective DNA double strand break response due to BARD1 loss of function Gene Set From Reactome Pathways 2024 proteins participating in the Defective DNA double strand break response due to BARD1 loss of function pathway from the Reactome Pathways 2024 dataset.
Defective DNA double strand break response due to BRCA1 loss of function Gene Set From Reactome Pathways 2024 proteins participating in the Defective DNA double strand break response due to BRCA1 loss of function pathway from the Reactome Pathways 2024 dataset.
Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA1 binding function Gene Set From Reactome Pathways 2024 proteins participating in the Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA1 binding function pathway from the Reactome Pathways 2024 dataset.
Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA2/RAD51/RAD51C binding function Gene Set From Reactome Pathways 2024 proteins participating in the Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA2/RAD51/RAD51C binding function pathway from the Reactome Pathways 2024 dataset.
Defective Inhibition of DNA Recombination at Telomere Due to ATRX Mutations Gene Set From Reactome Pathways 2024 proteins participating in the Defective Inhibition of DNA Recombination at Telomere Due to ATRX Mutations pathway from the Reactome Pathways 2024 dataset.
Defective Inhibition of DNA Recombination at Telomere Due to DAXX Mutations Gene Set From Reactome Pathways 2024 proteins participating in the Defective Inhibition of DNA Recombination at Telomere Due to DAXX Mutations pathway from the Reactome Pathways 2024 dataset.
Defective Intrinsic Pathway for Apoptosis Due to p14ARF Loss of Function Gene Set From Reactome Pathways 2024 proteins participating in the Defective Intrinsic Pathway for Apoptosis Due to p14ARF Loss of Function pathway from the Reactome Pathways 2024 dataset.
Defective homologous recombination repair (HRR) due to BRCA1 loss of function Gene Set From Reactome Pathways 2024 proteins participating in the Defective homologous recombination repair (HRR) due to BRCA1 loss of function pathway from the Reactome Pathways 2024 dataset.
Defective homologous recombination repair (HRR) due to BRCA2 loss of function Gene Set From Reactome Pathways 2024 proteins participating in the Defective homologous recombination repair (HRR) due to BRCA2 loss of function pathway from the Reactome Pathways 2024 dataset.
Defective homologous recombination repair (HRR) due to PALB2 loss of function Gene Set From Reactome Pathways 2024 proteins participating in the Defective homologous recombination repair (HRR) due to PALB2 loss of function pathway from the Reactome Pathways 2024 dataset.
Defective visual phototransduction due to ABCA4 loss of function Gene Set From Reactome Pathways 2024 proteins participating in the Defective visual phototransduction due to ABCA4 loss of function pathway from the Reactome Pathways 2024 dataset.
Defective visual phototransduction due to LRAT loss of function Gene Set From Reactome Pathways 2024 proteins participating in the Defective visual phototransduction due to LRAT loss of function pathway from the Reactome Pathways 2024 dataset.
Defective visual phototransduction due to OPN1LW loss of function Gene Set From Reactome Pathways 2024 proteins participating in the Defective visual phototransduction due to OPN1LW loss of function pathway from the Reactome Pathways 2024 dataset.
Defective visual phototransduction due to OPN1MW loss of function Gene Set From Reactome Pathways 2024 proteins participating in the Defective visual phototransduction due to OPN1MW loss of function pathway from the Reactome Pathways 2024 dataset.
Defective visual phototransduction due to OPN1SW loss of function Gene Set From Reactome Pathways 2024 proteins participating in the Defective visual phototransduction due to OPN1SW loss of function pathway from the Reactome Pathways 2024 dataset.
Defective visual phototransduction due to RDH12 loss of function Gene Set From Reactome Pathways 2024 proteins participating in the Defective visual phototransduction due to RDH12 loss of function pathway from the Reactome Pathways 2024 dataset.
Defective visual phototransduction due to RDH5 loss of function Gene Set From Reactome Pathways 2024 proteins participating in the Defective visual phototransduction due to RDH5 loss of function pathway from the Reactome Pathways 2024 dataset.
Defective visual phototransduction due to STRA6 loss of function Gene Set From Reactome Pathways 2024 proteins participating in the Defective visual phototransduction due to STRA6 loss of function pathway from the Reactome Pathways 2024 dataset.
Evasion of Oncogene Induced Senescence Due to Defective p16INK4A binding to CDK4 Gene Set From Reactome Pathways 2024 proteins participating in the Evasion of Oncogene Induced Senescence Due to Defective p16INK4A binding to CDK4 pathway from the Reactome Pathways 2024 dataset.
Evasion of Oncogene Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6 Gene Set From Reactome Pathways 2024 proteins participating in the Evasion of Oncogene Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6 pathway from the Reactome Pathways 2024 dataset.
Evasion of Oncogene Induced Senescence Due to p14ARF Defects Gene Set From Reactome Pathways 2024 proteins participating in the Evasion of Oncogene Induced Senescence Due to p14ARF Defects pathway from the Reactome Pathways 2024 dataset.
Evasion of Oncogene Induced Senescence Due to p16INK4A Defects Gene Set From Reactome Pathways 2024 proteins participating in the Evasion of Oncogene Induced Senescence Due to p16INK4A Defects pathway from the Reactome Pathways 2024 dataset.
Evasion of Oxidative Stress Induced Senescence Due to Defective p16INK4A binding to CDK4 Gene Set From Reactome Pathways 2024 proteins participating in the Evasion of Oxidative Stress Induced Senescence Due to Defective p16INK4A binding to CDK4 pathway from the Reactome Pathways 2024 dataset.
Evasion of Oxidative Stress Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6 Gene Set From Reactome Pathways 2024 proteins participating in the Evasion of Oxidative Stress Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6 pathway from the Reactome Pathways 2024 dataset.
Evasion of Oxidative Stress Induced Senescence Due to p14ARF Defects Gene Set From Reactome Pathways 2024 proteins participating in the Evasion of Oxidative Stress Induced Senescence Due to p14ARF Defects pathway from the Reactome Pathways 2024 dataset.
Evasion of Oxidative Stress Induced Senescence Due to p16INK4A Defects Gene Set From Reactome Pathways 2024 proteins participating in the Evasion of Oxidative Stress Induced Senescence Due to p16INK4A Defects pathway from the Reactome Pathways 2024 dataset.
Loss of function of TP53 in cancer due to loss of tetramerization ability Gene Set From Reactome Pathways 2024 proteins participating in the Loss of function of TP53 in cancer due to loss of tetramerization ability pathway from the Reactome Pathways 2024 dataset.
Severe congenital encephalopathy due to MECP2 mutation Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Severe congenital encephalopathy due to MECP2 mutation from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Male infertility due to globozoospermia Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Male infertility due to globozoospermia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Congenital muscular dystrophy due to LMNA mutation Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Congenital muscular dystrophy due to LMNA mutation from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Male infertility due to globozoospermia Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Male infertility due to globozoospermia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Male infertility due to acephalic spermatozoa Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Male infertility due to acephalic spermatozoa in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Thrombocytopenia due to platelet alloimmunization Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Thrombocytopenia due to platelet alloimmunization in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Polyneuropathy due to drug Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Polyneuropathy due to drug in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Congenital muscular dystrophy due to LMNA mutation Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital muscular dystrophy due to LMNA mutation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Encephalopathy due to defective mitochondrial and peroxisomal fission 1 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Encephalopathy due to defective mitochondrial and peroxisomal fission 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Thrombophilia due to activated protein C resistance Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Thrombophilia due to activated protein C resistance in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Thrombophilia due to thrombin defect Gene Set From 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.
Multiple epiphyseal dysplasia due to collagen 9 anomaly Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Multiple epiphyseal dysplasia due to collagen 9 anomaly in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Congenital muscular dystrophy due to integrin alpha-7 deficiency Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital muscular dystrophy due to integrin alpha-7 deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Severe congenital encephalopathy due to MECP2 mutation Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe congenital encephalopathy due to MECP2 mutation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Thrombophilia due to HRG deficiency Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Thrombophilia due to HRG deficiency 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 Set From 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.
Autosomal recessive thrombophilia due to protein C deficiency Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive thrombophilia due to protein C deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Autosomal dominant thrombophilia due to protein C deficiency Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant thrombophilia due to protein C deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Thrombophilia due to thrombomodulin defect Gene Set From 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.
Autosomal dominant thrombophilia due to protein S deficiency Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant thrombophilia due to protein S deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Hyperphenylalaninemia due to tetrahydrobiopterin deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hyperphenylalaninemia due to tetrahydrobiopterin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Thrombophilia due to activated protein C resistance Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Thrombophilia due to activated protein C resistance phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Thrombophilia due to protein C deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Thrombophilia due to protein C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Hereditary thrombophilia due to congenital protein C deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hereditary thrombophilia due to congenital protein C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins Gene Set From 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.
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
SCID due to ADA deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the SCID due to ADA deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Glycogen storage disease due to glycogen branching enzyme deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Glycogen storage disease due to glycogen branching enzyme deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Predisposition to invasive fungal disease due to CARD9 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Predisposition to invasive fungal disease due to CARD9 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Homocystinuria due to methylene tetrahydrofolate reductase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Homocystinuria due to methylene tetrahydrofolate reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Thrombophilia due to thrombin defect Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Thrombophilia due to thrombin defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Autosomal recessive ataxia due to ubiquinone deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal recessive ataxia due to ubiquinone deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Glycogen storage disease due to acid maltase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Glycogen storage disease due to acid maltase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Hepatoencephalopathy due to combined oxidative phosphorylation defect Gene Set From 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.
Syndromic multisystem autoimmune disease due to ITCH deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Syndromic multisystem autoimmune disease due to ITCH deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Rubinstein-Taybi syndrome due to EP300 haploinsufficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Severe combined immunodeficiency due to DCLRE1C deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to DCLRE1C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Immunodeficiency due to ficolin3 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Immunodeficiency due to ficolin3 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Fatal mitochondrial disease due to combined oxidative phosphorylation defect Gene Set From 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.
Sulfite oxidase deficiency due to molybdenum cofactor deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Sulfite oxidase deficiency due to molybdenum cofactor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Neonatal intrahepatic cholestasis due to citrin deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Neonatal intrahepatic cholestasis due to citrin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Hypothyroidism due to TSH receptor mutations Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hypothyroidism due to TSH receptor mutations phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Lissencephaly due to TUBA1A mutation Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Lissencephaly due to TUBA1A mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Peroxisome biogenesis disorder due to PEX1 defect Gene Set From 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.
Alagille syndrome due to a JAG1 point mutation Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Alagille syndrome due to a JAG1 point mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Short stature due to growth hormone secretagogue receptor deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Short stature due to growth hormone secretagogue receptor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Interstitial lung disease due to ABCA3 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Interstitial lung disease due to ABCA3 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Lissencephaly due to LIS1 mutation Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Lissencephaly due to LIS1 mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Obesity due to leptin receptor gene deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Obesity due to leptin receptor gene deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Ehlers-Danlos syndrome due to tenascin-X deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Ehlers-Danlos syndrome due to tenascin-X deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Short stature due to partial GHR deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Short stature due to partial GHR deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Congenital lipoid adrenal hyperplasia due to STAR deficency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital lipoid adrenal hyperplasia due to STAR deficency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
T-B+ severe combined immunodeficiency due to JAK3 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the T-B+ severe combined immunodeficiency due to JAK3 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Rubinstein-Taybi syndrome due to CREBBP mutations Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Rubinstein-Taybi syndrome due to CREBBP mutations phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Glycogen storage disease due to phosphoglycerate kinase 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Hydrocephalus due to aqueductal stenosis Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hydrocephalus due to aqueductal stenosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
X-linked lymphoproliferative disease due to SH2D1A deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the X-linked lymphoproliferative disease due to SH2D1A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Lissencephaly due to doublecortin gene mutation Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Lissencephaly due to doublecortin gene mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Glycogen storage disease due to glucose-6-phosphatase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Glycogen storage disease due to glucose-6-phosphatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Combined immunodeficiency due to CD3gamma deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined immunodeficiency due to CD3gamma deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Leigh syndrome due to mitochondrial complex IV deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Leigh syndrome due to mitochondrial complex IV deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Dopa-responsive dystonia due to sepiapterin reductase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Dopa-responsive dystonia due to sepiapterin reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Combined immunodeficiency due to partial RAG1 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined immunodeficiency due to partial RAG1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Combined immunodeficiency due to ZAP70 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined immunodeficiency due to ZAP70 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Thrombophilia due to protein S deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Thrombophilia due to protein S deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Obesity due to pro-opiomelanocortin deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Obesity due to pro-opiomelanocortin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Gaucher disease due to saposin C deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Gaucher disease due to saposin C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Krabbe disease due to saposin A deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Krabbe disease due to saposin A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Hemolytic anemia due to glucophosphate isomerase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hemolytic anemia due to glucophosphate isomerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Congenital muscular dystrophy due to partial LAMA2 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital muscular dystrophy due to partial LAMA2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Obesity due to melanocortin 4 receptor deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Obesity due to melanocortin 4 receptor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Congenital muscular dystrophy due to LMNA mutation Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital muscular dystrophy due to LMNA mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Growth delay due to insulin-like growth factor I resistance Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Growth delay due to insulin-like growth factor I resistance phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Hyperinsulinism due to HNF1A deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hyperinsulinism due to HNF1A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Short stature due to growth hormone qualitative anomaly Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Short stature due to growth hormone qualitative anomaly phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Glycogen storage disorder due to hepatic glycogen synthase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Glycogen storage disorder due to hepatic glycogen synthase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Encephalopathy due to GLUT1 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Encephalopathy due to GLUT1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Hyperinsulinism due to glucokinase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hyperinsulinism due to glucokinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Glycogen storage disease due to muscle beta-enolase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Glycogen storage disease due to muscle beta-enolase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Combined immunodeficiency due to LRBA deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined immunodeficiency due to LRBA deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Combined immunodeficiency due to STK4 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined immunodeficiency due to STK4 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Combined immunodeficiency due to STIM1 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined immunodeficiency due to STIM1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Epidermolysis bullosa simplex due to plakophilin deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Epidermolysis bullosa simplex due to plakophilin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Severe combined immunodeficiency due to CARD11 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to CARD11 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Glycogen storage disease due to SLC37A4 mutation Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Glycogen storage disease due to SLC37A4 mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Combined immunodeficiency due to DOCK8 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined immunodeficiency due to DOCK8 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Congenital muscular dystrophy due to integrin alpha-7 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital muscular dystrophy due to integrin alpha-7 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Limb-girdle muscular dystrophy due to POMK deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Limb-girdle muscular dystrophy due to POMK deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Vasculitis due to ADA2 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Vasculitis due to ADA2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Glycogen storage disease due to muscle and heart glycogen synthase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Glycogen storage disease due to muscle and heart glycogen synthase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Microcephalic primordial dwarfism due to RTTN deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Microcephalic primordial dwarfism due to RTTN deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Ketoacidosis due to monocarboxylate transporter-1 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Ketoacidosis due to monocarboxylate transporter-1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Metabolic myopathy due to lactate transporter defect Gene Set From 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.
Microcephalic primordial dwarfism due to ZNF335 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Microcephalic primordial dwarfism due to ZNF335 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Autism spectrum disorder due to AUTS2 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Autism spectrum disorder due to AUTS2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Pyogenic bacterial infections due to MyD88 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Pyogenic bacterial infections due to MyD88 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Alagille syndrome due to a NOTCH2 point mutation Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Alagille syndrome due to a NOTCH2 point mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Methylmalonic acidemia due to transcobalamin receptor defect Gene Set From 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.
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Childhood encephalopathy due to thiamine pyrophosphokinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Severe combined immunodeficiency due to CTPS1 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to CTPS1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal recessive severe congenital neutropenia due to CSF3R deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Neurofibromatosis due to NF1 mutation or intragenic deletion Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Neurofibromatosis due to NF1 mutation or intragenic deletion phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Combined immunodeficiency due to ORAI1 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined immunodeficiency due to ORAI1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Hyperinsulinism due to INSR deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hyperinsulinism due to INSR deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Immunodeficiency due to CD25 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Immunodeficiency due to CD25 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
DeSanto-Shinawi syndrome due to WAC point mutation Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the DeSanto-Shinawi syndrome due to WAC point mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Obesity due to SIM1 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Obesity due to SIM1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Hemolytic anemia due to hexokinase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hemolytic anemia due to hexokinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
X-linked lymphoproliferative disease due to XIAP deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the X-linked lymphoproliferative disease due to XIAP deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Severe combined immunodeficiency due to CARMIL2 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to CARMIL2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Growth delay due to insulin-like growth factor deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Growth delay due to insulin-like growth factor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Immunodeficiency due to MASP-2 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Immunodeficiency due to MASP-2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Congenital brain dysgenesis due to glutamine synthetase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital brain dysgenesis due to glutamine synthetase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Obesity due to prohormone convertase I deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Obesity due to prohormone convertase I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Obesity due to congenital leptin deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Obesity due to congenital leptin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Hyperlipidemia due to hepatic triglyceride lipase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hyperlipidemia due to hepatic triglyceride lipase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Short stature due to primary acid-labile subunit deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Short stature due to primary acid-labile subunit deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Immunodeficiency due to defect in CD3-gamma Gene Set From 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.
HNSHA due to aldolase A deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the HNSHA due to aldolase A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Combined immunodeficiency due to moesin deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined immunodeficiency due to moesin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Hemolytic anemia due to erythrocyte adenosine deaminase overproduction Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hemolytic anemia due to erythrocyte adenosine deaminase overproduction phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Hemolytic anemia due to adenylate kinase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hemolytic anemia due to adenylate kinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Severe combined immunodeficiency due to DNA-PKcs deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to DNA-PKcs deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Encephalopathy due to defective mitochondrial and peroxisomal fission Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Encephalopathy due to defective mitochondrial and peroxisomal fission phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Severe combined immunodeficiency due to CORO1A deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to CORO1A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Combined immunodeficiency due to OX40 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined immunodeficiency due to OX40 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Severe combined immunodeficiency due to IKK2 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to IKK2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Beckwith-Wiedemann syndrome due to CDKN1C mutation Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Beckwith-Wiedemann syndrome due to CDKN1C mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Myopathy due to calsequestrin and SERCA1 protein overload Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Myopathy due to calsequestrin and SERCA1 protein overload phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Autosomal dominant hyperinsulinism due to SUR1 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal dominant hyperinsulinism due to SUR1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Hyperinsulinism due to HNF4A deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hyperinsulinism due to HNF4A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Hemolytic anemia due to glutathione reductase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hemolytic anemia due to glutathione reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Combined immunodeficiency due to MALT1 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined immunodeficiency due to MALT1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
SIN3A-related intellectual disability syndrome due to a point mutation Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the SIN3A-related intellectual disability syndrome due to a point mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Severe combined immunodeficiency due to LCK deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to LCK deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Immunodeficiency due to a late component of complement deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Immunodeficiency due to a late component of complement deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Lactic aciduria due to D-lactic acid Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Lactic aciduria due to D-lactic acid phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Recurrent Neisseria infections due to factor D deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Recurrent Neisseria infections due to factor D deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Kleefstra syndrome due to a point mutation Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Kleefstra syndrome due to a point mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Hyperphenylalaninemia due to DNAJC12 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hyperphenylalaninemia due to DNAJC12 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Obesity due to CEP19 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Obesity due to CEP19 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Pancytopenia due to IKZF1 mutations Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Pancytopenia due to IKZF1 mutations phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Hao-Fountain syndrome due to USP7 mutation Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hao-Fountain syndrome due to USP7 mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Progressive retinal dystrophy due to retinol transport defect Gene Set From 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.
Primary immunodeficiency syndrome due to p14 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Primary immunodeficiency syndrome due to p14 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Severe combined immunodeficiency due to LAT deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to LAT deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Combined immunodeficiency due to GINS1 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined immunodeficiency due to GINS1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Hereditary thrombophilia due to congenital histidine-rich Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hereditary thrombophilia due to congenital histidine-rich phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Juvenile arthritis due to defect in LA Gene Set From 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.
Neurometabolic disorder due to serine deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Neurometabolic disorder due to serine deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Immunodeficiency due to purine nucleoside phosphorylase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Immunodeficiency due to purine nucleoside phosphorylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Hereditary thrombophilia due to congenital protein S deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hereditary thrombophilia due to congenital protein S deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
X-linked acrogigantism due to Xq26 microduplication Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the X-linked acrogigantism due to Xq26 microduplication phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Male infertility due to gonadal dysgenesis or sperm disorder Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Male infertility due to gonadal dysgenesis or sperm disorder phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Female infertility due to zona pellucida defect Gene Set From 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.
Familial Mediterranean fever Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Familial Mediterranean fever phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Thrombocytosis, benign familial microcytic Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Thrombocytosis, benign familial microcytic phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Benign familial neonatal-infantile seizures Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Benign familial neonatal-infantile seizures phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Neurofibromatosis, familial spinal Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Neurofibromatosis, familial spinal phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Familial hypertrophic cardiomyopathy 9 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Familial hypertrophic cardiomyopathy 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Familial hypertrophic cardiomyopathy 7 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Familial hypertrophic cardiomyopathy 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Familial hypertrophic cardiomyopathy 6 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Familial hypertrophic cardiomyopathy 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Familial hypertrophic cardiomyopathy 4 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Familial hypertrophic cardiomyopathy 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Familial hypertrophic cardiomyopathy 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Familial hypertrophic cardiomyopathy 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Familial hypertrophic cardiomyopathy 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Familial hypertrophic cardiomyopathy 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Familial hypertrophic cardiomyopathy 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Familial hypertrophic cardiomyopathy 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Tumoral calcinosis, familial, hyperphosphatemic Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Tumoral calcinosis, familial, hyperphosphatemic phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Febrile seizures, familial, 4 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Febrile seizures, familial, 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Familial restrictive cardiomyopathy 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Familial restrictive cardiomyopathy 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Gaze palsy, familial horizontal, with progressive scoliosis Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Gaze palsy, familial horizontal, with progressive scoliosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Familial hemiplegic migraine type 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Familial hemiplegic migraine type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Familial hemiplegic migraine type 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Familial hemiplegic migraine type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Familial hemiplegic migraine type 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Familial hemiplegic migraine type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Erythrocytosis, familial, 4 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Erythrocytosis, familial, 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Erythrocytosis, familial, 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Erythrocytosis, familial, 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Erythrocytosis, familial, 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Erythrocytosis, familial, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Aortic aneurysm, familial thoracic 6 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Aortic aneurysm, familial thoracic 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Familial X-linked hypophosphatemic vitamin D refractory rickets Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Familial X-linked hypophosphatemic vitamin D refractory rickets phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Familial cardiomyopathy Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Familial cardiomyopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Infantile convulsions and paroxysmal choreoathetosis, familial Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Infantile convulsions and paroxysmal choreoathetosis, familial phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Alzheimer disease, familial, 3, with spastic paraparesis and apraxia Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Alzheimer disease, familial, 3, with spastic paraparesis and apraxia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Benign familial neonatal seizures 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Benign familial neonatal seizures 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Benign familial neonatal seizures 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Benign familial neonatal seizures 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hyperuricemic nephropathy, familial juvenile, 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hyperuricemic nephropathy, familial juvenile, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Familial cancer of breast Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Familial cancer of breast phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Familial benign pemphigus Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Familial benign pemphigus phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Episodic pain syndrome, familial, 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Episodic pain syndrome, familial, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hyperpigmentation, familial progressive, 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hyperpigmentation, familial progressive, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Familial aortopathy Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Familial aortopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Digital arthropathy-brachydactyly, familial Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Digital arthropathy-brachydactyly, familial phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Episodic pain syndrome, familial, 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Episodic pain syndrome, familial, 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Arrhythmogenic right ventricular dysplasia, familial, 13 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Arrhythmogenic right ventricular dysplasia, familial, 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Febrile seizures, familial, 11 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Febrile seizures, familial, 11 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Familial benign hypercalcemia Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Familial benign hypercalcemia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Atrial fibrillation, familial, 6 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Atrial fibrillation, familial, 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Familial visceral amyloidosis, Ostertag type Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Familial visceral amyloidosis, Ostertag type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Dementia familial British Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Dementia familial British phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Familial porencephaly Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Familial porencephaly phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Familial hypertrophic cardiomyopathy 17 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Familial hypertrophic cardiomyopathy 17 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Familial hypertrophic cardiomyopathy 15 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Familial hypertrophic cardiomyopathy 15 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Familial hypertrophic cardiomyopathy 14 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Familial hypertrophic cardiomyopathy 14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Familial hypertrophic cardiomyopathy 13 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Familial hypertrophic cardiomyopathy 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Familial hypertrophic cardiomyopathy 12 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Familial hypertrophic cardiomyopathy 12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Familial hypertrophic cardiomyopathy 10 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Familial hypertrophic cardiomyopathy 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hypocalciuric hypercalcemia, familial, type 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hypocalciuric hypercalcemia, familial, type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
familial hyperinsulinism Gene Set From ClinVar Gene-Phenotype Associations genes associated with the familial hyperinsulinism phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hyperinsulinemic hypoglycemia familial 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hyperinsulinemic hypoglycemia familial 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Febrile seizures, familial, 3b Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Febrile seizures, familial, 3b phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Paroxysmal familial ventricular fibrillation Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Paroxysmal familial ventricular fibrillation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Familial hypercholesterolemia Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Familial hypercholesterolemia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hidradenitis suppurativa, familial Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hidradenitis suppurativa, familial phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Dementia, familial Danish Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Dementia, familial Danish phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Progressive familial intrahepatic cholestasis 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Progressive familial intrahepatic cholestasis 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Progressive familial intrahepatic cholestasis 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Progressive familial intrahepatic cholestasis 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Benign familial hematuria Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Benign familial hematuria phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Progressive familial heart block type 1A Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Progressive familial heart block type 1A phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Progressive familial heart block type 1B Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Progressive familial heart block type 1B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Familial dysautonomia Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Familial dysautonomia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Familial febrile seizures 8 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Familial febrile seizures 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Fleck retina, familial benign Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Fleck retina, familial benign phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
X-linked familial exudative vitreoretinopathy Gene Set From ClinVar Gene-Phenotype Associations genes associated with the X-linked familial exudative vitreoretinopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Familial colorectal cancer Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Familial colorectal cancer phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Familial porphyria cutanea tarda Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Familial porphyria cutanea tarda phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Familial hypertrophic cardiomyopathy 20 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Familial hypertrophic cardiomyopathy 20 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Progressive familial intrahepatic cholestasis 4 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Progressive familial intrahepatic cholestasis 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Advanced sleep phase syndrome, familial, 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Advanced sleep phase syndrome, familial, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Myoclonus, familial cortical Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Myoclonus, familial cortical phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Migraine, familial basilar Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Migraine, familial basilar phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Breast-ovarian cancer, familial 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Breast-ovarian cancer, familial 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hypercholanemia, familial Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hypercholanemia, familial phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Bone marrow failure, familial Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bone marrow failure, familial phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Aortic aneurysm, familial thoracic 4 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Aortic aneurysm, familial thoracic 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Advanced sleep phase syndrome, familial Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Advanced sleep phase syndrome, familial phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Candidiasis, familial, 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Candidiasis, familial, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Candidiasis, familial, 5 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Candidiasis, familial, 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Familial hypokalemia-hypomagnesemia Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Familial hypokalemia-hypomagnesemia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Myasthenia, limb-girdle, familial Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Myasthenia, limb-girdle, familial phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Atrial fibrillation, familial, 13 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Atrial fibrillation, familial, 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Atrial fibrillation, familial, 12 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Atrial fibrillation, familial, 12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Atrial fibrillation, familial, 11 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Atrial fibrillation, familial, 11 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Atrial fibrillation, familial, 17 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Atrial fibrillation, familial, 17 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Atrial fibrillation, familial, 16 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Atrial fibrillation, familial, 16 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Atrial fibrillation, familial, 15 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Atrial fibrillation, familial, 15 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hemophagocytic lymphohistiocytosis, familial, 5 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hemophagocytic lymphohistiocytosis, familial, 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hemophagocytic lymphohistiocytosis, familial, 4 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hemophagocytic lymphohistiocytosis, familial, 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hemophagocytic lymphohistiocytosis, familial, 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hemophagocytic lymphohistiocytosis, familial, 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hemophagocytic lymphohistiocytosis, familial, 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hemophagocytic lymphohistiocytosis, familial, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Ventricular fibrillation, paroxysmal familial, 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Ventricular fibrillation, paroxysmal familial, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Familial platelet disorder with associated myeloid malignancy Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Familial platelet disorder with associated myeloid malignancy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Familial erythrocytosis, 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Familial erythrocytosis, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Familial medullary thyroid carcinoma Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Familial medullary thyroid carcinoma phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hyperinsulinemic hypoglycemia, familial, 4 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hyperinsulinemic hypoglycemia, familial, 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Aortic aneurysm, familial thoracic 7 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Aortic aneurysm, familial thoracic 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Aortic aneurysm, familial thoracic 8 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Aortic aneurysm, familial thoracic 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Aortic aneurysm, familial thoracic 9 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Aortic aneurysm, familial thoracic 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hyperlipidemia, familial combined Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hyperlipidemia, familial combined phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Familial amyloid polyneuropathy, Iowa type Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Familial amyloid polyneuropathy, Iowa type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Atrial fibrillation, familial, 14 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Atrial fibrillation, familial, 14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Familial encephalopathy with neuroserpin inclusion bodies Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Familial encephalopathy with neuroserpin inclusion bodies phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Epilepsy, familial adult myoclonic, 5 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Epilepsy, familial adult myoclonic, 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Atrial myxoma, familial Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Atrial myxoma, familial phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Lipodystrophy, familial partial, type 5 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Lipodystrophy, familial partial, type 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Lipodystrophy, familial partial, type 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Lipodystrophy, familial partial, type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hypocalciuric hypercalcemia, familial, type 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hypocalciuric hypercalcemia, familial, type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hypocalciuric hypercalcemia, familial, type 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hypocalciuric hypercalcemia, familial, type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Familial multiple polyposis syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Familial multiple polyposis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Familial juvenile gout Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Familial juvenile gout phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cardiomyopathy:Familial hypertrophic cardiomyopathy 4 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cardiomyopathy:Familial hypertrophic cardiomyopathy 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hypobetalipoproteinemia, familial, associated with apob32 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hypobetalipoproteinemia, familial, associated with apob32 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Breast-ovarian cancer, familial 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Breast-ovarian cancer, familial 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Atrial fibrillation, familial, 7 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Atrial fibrillation, familial, 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hereditary cancer-predisposing syndrome:Erythrocytosis, familial, 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hereditary cancer-predisposing syndrome:Erythrocytosis, familial, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Primary familial hypertrophic cardiomyopathy Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Primary familial hypertrophic cardiomyopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Familial type 3 hyperlipoproteinemia Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Familial type 3 hyperlipoproteinemia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Tumoral calcinosis, familial, normophosphatemic Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Tumoral calcinosis, familial, normophosphatemic phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cd8 deficiency, familial Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cd8 deficiency, familial phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Familial infantile myasthenia Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Familial infantile myasthenia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
X-linked familial atypical mycobacteriosis, type 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the X-linked familial atypical mycobacteriosis, type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hyperthyroxinemia, familial dysalbuminemic Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hyperthyroxinemia, familial dysalbuminemic phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Familial type 5 hyperlipoproteinemia Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Familial type 5 hyperlipoproteinemia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cutaneous telangiectasia and cancer syndrome, familial Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cutaneous telangiectasia and cancer syndrome, familial phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Familial renal glucosuria Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Familial renal glucosuria phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Familial pulmonary capillary hemangiomatosis Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Familial pulmonary capillary hemangiomatosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Familial hypoalphalipoproteinemia Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Familial hypoalphalipoproteinemia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Familial renal hypouricemia Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Familial renal hypouricemia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
HYPERALDOSTERONISM, FAMILIAL, TYPE III Gene Set From ClinVar Gene-Phenotype Associations genes associated with the HYPERALDOSTERONISM, FAMILIAL, TYPE III phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Myoclonic epilepsy, familial infantile Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Myoclonic epilepsy, familial infantile phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Familial hypoplastic, glomerulocystic kidney Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Familial hypoplastic, glomerulocystic kidney phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Familial cold urticaria Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Familial cold urticaria phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Aortic Aneurysm, Familial Abdominal 2 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Aortic Aneurysm, Familial Abdominal 2 from the curated CTD Gene-Disease Associations dataset.
Familial myelofibrosis Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Familial myelofibrosis from the curated CTD Gene-Disease Associations dataset.
Nephronophthisis, familial juvenile Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Nephronophthisis, familial juvenile from the curated CTD Gene-Disease Associations dataset.
Eosinophilia, Familial Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Eosinophilia, Familial from the curated CTD Gene-Disease Associations dataset.
Hyperlipidemia, Familial Combined Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Hyperlipidemia, Familial Combined from the curated CTD Gene-Disease Associations dataset.
Platelet Disorder, Familial, with Associated Myeloid Malignancy Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Platelet Disorder, Familial, with Associated Myeloid Malignancy from the curated CTD Gene-Disease Associations dataset.
Hyperinsulinemic hypoglycemia, familial, 6 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Hyperinsulinemic hypoglycemia, familial, 6 from the curated CTD Gene-Disease Associations dataset.
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 from the curated CTD Gene-Disease Associations dataset.
Pemphigus, Benign Familial Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Pemphigus, Benign Familial from the curated CTD Gene-Disease Associations dataset.
Cardiomyopathy, Familial Restrictive, 1 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Cardiomyopathy, Familial Restrictive, 1 from the curated CTD Gene-Disease Associations dataset.
Cardiomyopathy, Familial Hypertrophic, 9 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Cardiomyopathy, Familial Hypertrophic, 9 from the curated CTD Gene-Disease Associations dataset.
Cardiomyopathy, Familial Hypertrophic, 8 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Cardiomyopathy, Familial Hypertrophic, 8 from the curated CTD Gene-Disease Associations dataset.
Cardiomyopathy, Familial Hypertrophic, 2 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Cardiomyopathy, Familial Hypertrophic, 2 from the curated CTD Gene-Disease Associations dataset.
Cardiomyopathy, Familial Hypertrophic, 6 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Cardiomyopathy, Familial Hypertrophic, 6 from the curated CTD Gene-Disease Associations dataset.
Amyloidosis, familial visceral Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Amyloidosis, familial visceral from the curated CTD Gene-Disease Associations dataset.
Cardiomyopathy, Hypertrophic, Familial Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Cardiomyopathy, Hypertrophic, Familial from the curated CTD Gene-Disease Associations dataset.
Gaze Palsy, Familial Horizontal, with Progressive Scoliosis Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Gaze Palsy, Familial Horizontal, with Progressive Scoliosis from the curated CTD Gene-Disease Associations dataset.
Atrial Fibrillation, Familial, 8 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Atrial Fibrillation, Familial, 8 from the curated CTD Gene-Disease Associations dataset.
Atrial Fibrillation, Familial, 7 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Atrial Fibrillation, Familial, 7 from the curated CTD Gene-Disease Associations dataset.
Atrial Fibrillation, Familial, 6 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Atrial Fibrillation, Familial, 6 from the curated CTD Gene-Disease Associations dataset.
Atrial Fibrillation, Familial, 4 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Atrial Fibrillation, Familial, 4 from the curated CTD Gene-Disease Associations dataset.
Cholestasis, progressive familial intrahepatic 1 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Cholestasis, progressive familial intrahepatic 1 from the curated CTD Gene-Disease Associations dataset.
Cholestasis, progressive familial intrahepatic 2 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Cholestasis, progressive familial intrahepatic 2 from the curated CTD Gene-Disease Associations dataset.
Myasthenia, Familial Infantile, 1 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Myasthenia, Familial Infantile, 1 from the curated CTD Gene-Disease Associations dataset.
Cardiomyopathy, Familial Hypertrophic, 4 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Cardiomyopathy, Familial Hypertrophic, 4 from the curated CTD Gene-Disease Associations dataset.
Aortic Aneurysm, Familial Abdominal 1 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Aortic Aneurysm, Familial Abdominal 1 from the curated CTD Gene-Disease Associations dataset.
STUTTERING, FAMILIAL PERSISTENT, 1 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease STUTTERING, FAMILIAL PERSISTENT, 1 from the curated CTD Gene-Disease Associations dataset.
Dementia, familial British Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Dementia, familial British from the curated CTD Gene-Disease Associations dataset.
Candidiasis familial chronic mucocutaneous, autosomal recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Candidiasis familial chronic mucocutaneous, autosomal recessive from the curated CTD Gene-Disease Associations dataset.
Gliosis, Familial Progressive Subcortical Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Gliosis, Familial Progressive Subcortical from the curated CTD Gene-Disease Associations dataset.
CD8 Deficiency, Familial Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease CD8 Deficiency, Familial from the curated CTD Gene-Disease Associations dataset.
Insomnia, Fatal Familial Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Insomnia, Fatal Familial from the curated CTD Gene-Disease Associations dataset.
SEIZURES, BENIGN FAMILIAL NEONATAL, 2 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease SEIZURES, BENIGN FAMILIAL NEONATAL, 2 from the curated CTD Gene-Disease Associations dataset.
Familial HDL deficiency Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Familial HDL deficiency from the curated CTD Gene-Disease Associations dataset.
Familial dermographism Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Familial dermographism from the curated CTD Gene-Disease Associations dataset.
Candidiasis, Familial, 3 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Candidiasis, Familial, 3 from the curated CTD Gene-Disease Associations dataset.
HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, FAMILIAL PROGRESSIVE Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, FAMILIAL PROGRESSIVE from the curated CTD Gene-Disease Associations dataset.
Erythrocytosis, Familial, 3 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Erythrocytosis, Familial, 3 from the curated CTD Gene-Disease Associations dataset.
Erythrocytosis, Familial, 2 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Erythrocytosis, Familial, 2 from the curated CTD Gene-Disease Associations dataset.
Visceral Myopathy, Familial Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Visceral Myopathy, Familial from the curated CTD Gene-Disease Associations dataset.
Hyperthyroidism, Familial Gestational Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Hyperthyroidism, Familial Gestational from the curated CTD Gene-Disease Associations dataset.
Hematuria, Benign Familial Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Hematuria, Benign Familial from the curated CTD Gene-Disease Associations dataset.
SEIZURES, BENIGN FAMILIAL INFANTILE, 2 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease SEIZURES, BENIGN FAMILIAL INFANTILE, 2 from the curated CTD Gene-Disease Associations dataset.
Febrile Convulsions, Familial, 2 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Febrile Convulsions, Familial, 2 from the curated CTD Gene-Disease Associations dataset.
Migraine, Familial Hemiplegic, 3 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Migraine, Familial Hemiplegic, 3 from the curated CTD Gene-Disease Associations dataset.
FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1 from the curated CTD Gene-Disease Associations dataset.
Cancer, Familial, with In Vitro Radioresistance Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Cancer, Familial, with In Vitro Radioresistance from the curated CTD Gene-Disease Associations dataset.
Febrile Convulsions, Familial, 5 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Febrile Convulsions, Familial, 5 from the curated CTD Gene-Disease Associations dataset.
Hypoparathyroidism familial isolated Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Hypoparathyroidism familial isolated from the curated CTD Gene-Disease Associations dataset.
Tumoral Calcinosis, Hyperphosphatemic, Familial Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Tumoral Calcinosis, Hyperphosphatemic, Familial from the curated CTD Gene-Disease Associations dataset.
Atrial Fibrillation, Familial, 3 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Atrial Fibrillation, Familial, 3 from the curated CTD Gene-Disease Associations dataset.
Hidradenitis suppurativa, familial Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Hidradenitis suppurativa, familial from the curated CTD Gene-Disease Associations dataset.
Dementia, familial Danish Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Dementia, familial Danish from the curated CTD Gene-Disease Associations dataset.
Familial medullary thyroid carcinoma Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Familial medullary thyroid carcinoma from the curated CTD Gene-Disease Associations dataset.
Interstitial Pneumonitis, Desquamative, Familial Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Interstitial Pneumonitis, Desquamative, Familial from the curated CTD Gene-Disease Associations dataset.
Hemophagocytic lymphohistiocytosis, familial, 4 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Hemophagocytic lymphohistiocytosis, familial, 4 from the curated CTD Gene-Disease Associations dataset.
Cirrhosis, Familial Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Cirrhosis, Familial from the curated CTD Gene-Disease Associations dataset.
Familial encephalopathy with neuroserpin inclusion bodies Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Familial encephalopathy with neuroserpin inclusion bodies from the curated CTD Gene-Disease Associations dataset.
Lipodystrophy, Familial Partial Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Lipodystrophy, Familial Partial from the curated CTD Gene-Disease Associations dataset.
Cardiomyopathy, Familial Restrictive, 3 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Cardiomyopathy, Familial Restrictive, 3 from the curated CTD Gene-Disease Associations dataset.
Familial Mediterranean Fever, Autosomal Dominant Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Familial Mediterranean Fever, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.
Familial Hypophosphatemic Rickets Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Familial Hypophosphatemic Rickets from the curated CTD Gene-Disease Associations dataset.
Cardiomyopathy, Familial Hypertrophic, 3 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Cardiomyopathy, Familial Hypertrophic, 3 from the curated CTD Gene-Disease Associations dataset.
Keratoacanthoma familial Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Keratoacanthoma familial from the curated CTD Gene-Disease Associations dataset.
Hepatic Adenomas, Familial Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Hepatic Adenomas, Familial from the curated CTD Gene-Disease Associations dataset.
Cardiomyopathy, Familial Hypertrophic, 10 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Cardiomyopathy, Familial Hypertrophic, 10 from the curated CTD Gene-Disease Associations dataset.
Cardiomyopathy, Familial Hypertrophic, 13 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Cardiomyopathy, Familial Hypertrophic, 13 from the curated CTD Gene-Disease Associations dataset.
Cardiomyopathy, Familial Hypertrophic, 15 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Cardiomyopathy, Familial Hypertrophic, 15 from the curated CTD Gene-Disease Associations dataset.
Familial Wilms tumor 2 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Familial Wilms tumor 2 from the curated CTD Gene-Disease Associations dataset.
Candidiasis, Familial, 1 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Candidiasis, Familial, 1 from the curated CTD Gene-Disease Associations dataset.
Febrile Convulsions, Familial, 9 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Febrile Convulsions, Familial, 9 from the curated CTD Gene-Disease Associations dataset.
Hyperinsulinemic Hypoglycemia, Familial, 4 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Hyperinsulinemic Hypoglycemia, Familial, 4 from the curated CTD Gene-Disease Associations dataset.
Hyperinsulinemic Hypoglycemia, Familial, 5 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Hyperinsulinemic Hypoglycemia, Familial, 5 from the curated CTD Gene-Disease Associations dataset.
Familial antiphospholipid syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Familial antiphospholipid syndrome from the curated CTD Gene-Disease Associations dataset.
Amyloidosis, Familial Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Amyloidosis, Familial from the curated CTD Gene-Disease Associations dataset.
Familial paroxysmal dystonia Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Familial paroxysmal dystonia from the curated CTD Gene-Disease Associations dataset.
Atrial fibrillation, familial 1 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Atrial fibrillation, familial 1 from the curated CTD Gene-Disease Associations dataset.
EPILEPSY, FAMILIAL TEMPORAL LOBE, 3 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease EPILEPSY, FAMILIAL TEMPORAL LOBE, 3 from the curated CTD Gene-Disease Associations dataset.
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 from the curated CTD Gene-Disease Associations dataset.
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 from the curated CTD Gene-Disease Associations dataset.
Hypercholanemia, Familial Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Hypercholanemia, Familial from the curated CTD Gene-Disease Associations dataset.
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 from the curated CTD Gene-Disease Associations dataset.
Hyperbilirubinemia, Transient Familial Neonatal Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Hyperbilirubinemia, Transient Familial Neonatal from the curated CTD Gene-Disease Associations dataset.
EPILEPSY, FAMILIAL TEMPORAL LOBE, 2 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease EPILEPSY, FAMILIAL TEMPORAL LOBE, 2 from the curated CTD Gene-Disease Associations dataset.
Meningioma, familial Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Meningioma, familial from the curated CTD Gene-Disease Associations dataset.
Aortic Aneurysm, Familial Thoracic 6 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Aortic Aneurysm, Familial Thoracic 6 from the curated CTD Gene-Disease Associations dataset.
Aortic Aneurysm, Familial Thoracic 2 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Aortic Aneurysm, Familial Thoracic 2 from the curated CTD Gene-Disease Associations dataset.
Dysautonomia, Familial Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Dysautonomia, Familial from the curated CTD Gene-Disease Associations dataset.
Cardiomyopathy, Familial Hypertrophic, 1 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Cardiomyopathy, Familial Hypertrophic, 1 from the curated CTD Gene-Disease Associations dataset.
Hemophagocytic lymphohistiocytosis, familial, 3 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Hemophagocytic lymphohistiocytosis, familial, 3 from the curated CTD Gene-Disease Associations dataset.
Familial Cold Autoinflammatory Syndrome 2 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Familial Cold Autoinflammatory Syndrome 2 from the curated CTD Gene-Disease Associations dataset.
Epilepsy, Familial Adult Myoclonic, 3 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Epilepsy, Familial Adult Myoclonic, 3 from the curated CTD Gene-Disease Associations dataset.
Prostate cancer, familial Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Prostate cancer, familial from the curated CTD Gene-Disease Associations dataset.
Convulsions, Benign Familial Infantile, 4 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Convulsions, Benign Familial Infantile, 4 from the curated CTD Gene-Disease Associations dataset.
Polycythemia, primary familial and congenital Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Polycythemia, primary familial and congenital from the curated CTD Gene-Disease Associations dataset.
PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA from the curated CTD Gene-Disease Associations dataset.
Aortic Aneurysm, Familial Thoracic 1 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Aortic Aneurysm, Familial Thoracic 1 from the curated CTD Gene-Disease Associations dataset.
Erythrocytosis, Familial, 4 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Erythrocytosis, Familial, 4 from the curated CTD Gene-Disease Associations dataset.
Hyperinsulinemic hypoglycemia, familial, 3 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Hyperinsulinemic hypoglycemia, familial, 3 from the curated CTD Gene-Disease Associations dataset.
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 from the curated CTD Gene-Disease Associations dataset.
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 from the curated CTD Gene-Disease Associations dataset.
Hyperinsulinemic hypoglycemia, familial, 7 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Hyperinsulinemic hypoglycemia, familial, 7 from the curated CTD Gene-Disease Associations dataset.
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 from the curated CTD Gene-Disease Associations dataset.
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 from the curated CTD Gene-Disease Associations dataset.
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 from the curated CTD Gene-Disease Associations dataset.
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 from the curated CTD Gene-Disease Associations dataset.
Hyperthyroxinemia, Familial Dysalbuminemic Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Hyperthyroxinemia, Familial Dysalbuminemic from the curated CTD Gene-Disease Associations dataset.
Aortic aneurysm, familial thoracic 4 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Aortic aneurysm, familial thoracic 4 from the curated CTD Gene-Disease Associations dataset.
Cardiomyopathy, Familial Restrictive, 2 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Cardiomyopathy, Familial Restrictive, 2 from the curated CTD Gene-Disease Associations dataset.
Atrial Fibrillation, Familial, 5 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Atrial Fibrillation, Familial, 5 from the curated CTD Gene-Disease Associations dataset.
Familial cylindromatosis Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Familial cylindromatosis from the curated CTD Gene-Disease Associations dataset.
Familial benign hypercalcemia, type 3 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Familial benign hypercalcemia, type 3 from the curated CTD Gene-Disease Associations dataset.
Hyperaldosteronism, Familial, Type II Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Hyperaldosteronism, Familial, Type II from the curated CTD Gene-Disease Associations dataset.
Cardiomyopathy, Familial Hypertrophic, 11 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Cardiomyopathy, Familial Hypertrophic, 11 from the curated CTD Gene-Disease Associations dataset.
Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia from the curated CTD Gene-Disease Associations dataset.
Atrial myxoma, familial Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Atrial myxoma, familial from the curated CTD Gene-Disease Associations dataset.
Familial Glucocorticoid Deficiency 1 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Familial Glucocorticoid Deficiency 1 from the curated CTD Gene-Disease Associations dataset.
Tumoral Calcinosis, Normophosphatemic, Familial Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Tumoral Calcinosis, Normophosphatemic, Familial from the curated CTD Gene-Disease Associations dataset.
MIGRAINE, FAMILIAL TYPICAL, SUSCEPTIBILITY TO, 2 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease MIGRAINE, FAMILIAL TYPICAL, SUSCEPTIBILITY TO, 2 from the curated CTD Gene-Disease Associations dataset.
Hypocalciuric hypercalcemia, familial, type 1 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Hypocalciuric hypercalcemia, familial, type 1 from the curated CTD Gene-Disease Associations dataset.
Trichoepithelioma multiple familial Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Trichoepithelioma multiple familial from the curated CTD Gene-Disease Associations dataset.
Febrile Convulsions, Familial, 10 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Febrile Convulsions, Familial, 10 from the curated CTD Gene-Disease Associations dataset.
EPILEPSY, FAMILIAL TEMPORAL LOBE, 1 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease EPILEPSY, FAMILIAL TEMPORAL LOBE, 1 from the curated CTD Gene-Disease Associations dataset.
EPILEPSY, FAMILIAL ADULT MYOCLONIC, 2 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease EPILEPSY, FAMILIAL ADULT MYOCLONIC, 2 from the curated CTD Gene-Disease Associations dataset.
Hemophagocytic lymphohistiocytosis, familial, 2 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Hemophagocytic lymphohistiocytosis, familial, 2 from the curated CTD Gene-Disease Associations dataset.
Periodic fever, familial, autosomal dominant Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Periodic fever, familial, autosomal dominant from the curated CTD Gene-Disease Associations dataset.
VENTRICULAR TACHYCARDIA, FAMILIAL Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease VENTRICULAR TACHYCARDIA, FAMILIAL from the curated CTD Gene-Disease Associations dataset.
Hyperuricemic Nephropathy, Familial Juvenile 2 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Hyperuricemic Nephropathy, Familial Juvenile 2 from the curated CTD Gene-Disease Associations dataset.
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 from the curated CTD Gene-Disease Associations dataset.
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 from the curated CTD Gene-Disease Associations dataset.
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 from the curated CTD Gene-Disease Associations dataset.
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 from the curated CTD Gene-Disease Associations dataset.
Hypobetalipoproteinemia, Familial, Apolipoprotein B Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Hypobetalipoproteinemia, Familial, Apolipoprotein B from the curated CTD Gene-Disease Associations dataset.
Aortic Aneurysm, Familial Abdominal 3 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Aortic Aneurysm, Familial Abdominal 3 from the curated CTD Gene-Disease Associations dataset.

Harmonizome 3.0

Pseudohyperkalemia, Familial, 2, due to Red Cell Leak Gene Set

pseudohyperkalemia, familial, 2, due to red cell leak Gene Set

Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak Gene Set

THROMBOPHILIA, FAMILIAL, DUE TO DECREASED RELEASE OF TISSUE PLASMINOGEN ACTIVATOR;THPH9 HYPERFIBRINOLYSIS, FAMILIAL, DUE TO INCREASED RELEASE OF TISSUE PLASMINOGEN Gene Set

Familial Pseudohyperkalemia Gene Set

Familial pseudohyperkalemia Gene Set

red vs non-red hair color Gene Set

red, far-red light phototransduction Gene Set

Red vs non-red hair color Gene Set

Red vs non-red hair color Gene Set

Red vs. non-red hair color Gene Set

Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, and Perinatal Edema Gene Set

dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema Gene Set

Pseudohyperkalemia Cardiff Gene Set

Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, And Perinatal Edema Gene Set

anemia due to reduced life span of red cells Gene Set

anemia due to reduced life span of red cells Gene Set

obesity, adrenal insufficiency, and red hair due to pomc deficiency Gene Set

Capillary Leak Syndrome Gene Set

capillary leak syndrome Gene Set

leak Gene Set

potassium ion leak channel activity Gene Set

leak channel activity Gene Set

Anastomotic Leak Gene Set

Sodium leak channel non-selective protein Gene Set

Capillary Leak Syndrome Gene Set

Clinical Capillary Leak Syndrome Gene Set

potassium ion leak channel activity Gene Set

leak channel activity Gene Set

potassium ion leak channel activity Gene Set

leak channel activity Gene Set

Capillary leak syndrome Gene Set

Red blood cell density in sickle cell anemia Gene Set

Alloimmunization response to red blood cell transfusion in sickle cell anemia Gene Set

thrombophilia, familial, due to decreased release of plat Gene Set

{hypercholesterolemia, familial, due to ldlr defect, modifier of} Gene Set

goiter, familial, due to ttf-1 defect Gene Set

hyperfibrinolysis, familial, due to increased release of plat Gene Set

Hypercholesterolemia, Familial, Due To Ligand-Defective Apolipoprotein B Gene Set

Familial hyperthyroidism due to mutations in TSH receptor Gene Set

Primary familial polycythemia due to EPO receptor mutation Gene Set

Renal tubular acidosis, distal, with normal red cell morphology Gene Set

Red-Cell Aplasia, Pure Gene Set

pure red-cell aplasia Gene Set

red cell folate concentrations Gene Set

anemia; kidney diseases; red-cell aplasia, pure Gene Set

red-cell aplasia, pure Gene Set

folic acid in plasma and red blood cell folate Gene Set

Red blood cell traits Gene Set

Red blood cell count Gene Set

increased red cell sickling tendency Gene Set

increased red cell osmotic fragility Gene Set

increased red cell sickling tendency Gene Set

increased red cell osmotic resistance Gene Set

increased red cell hemolysis by shear stress Gene Set

increased red blood cell mass Gene Set

abnormal red blood cell distribution width Gene Set

decreased red blood cell distribution width Gene Set

abnormal red blood cell deformability Gene Set

increased red blood cell distribution width Gene Set

Pure Red-Cell Aplasia Gene Set

Red Cell Adenylate Kinase Deficiency Gene Set

Splenic Diffuse Red Pulp Small B-Cell Lymphoma Gene Set

Rdw - Red Blood Cell Distribution Width Result Gene Set

Red Blood Cell Count Measurement Gene Set

Red Cell Distribution Width Determination Gene Set

Reduced Red Cell Adenosine Deaminase Activity Gene Set

Increased Red Cell Osmotic Fragility Gene Set

Increased Red Blood Cell Mass Gene Set

Increased Red Cell Sickling Tendency Gene Set

Increased Red Cell Hemolysis By Shear Stress Gene Set

Reduced Red Cell Pyruvate Kinase Activity Gene Set

Elevated Red Cell Adenosine Deaminase Activity Gene Set

Increased Red Cell Osmotic Resistance Gene Set

increased red blood cell distribution width Gene Set

abnormal red blood cell deformability Gene Set

decreased red blood cell distribution width Gene Set

abnormal red blood cell distribution width Gene Set

increased red blood cell distribution width Gene Set