Urticaria Due To Cold And Heat

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Results for "Urticaria Due To Cold And Heat": 1001 gene sets

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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.
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.
Familial Cold Urticaria Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Familial Cold Urticaria in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Acute urticaria and angioedema (non-steroidal anti-inflammatory drug-induced) Gene Set From GWAS Catalog SNP-Phenotype Associations genes associated with the Acute urticaria and angioedema (non-steroidal anti-inflammatory drug-induced) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.
Acute urticaria and angioedema (non-steroidal anti-inflammatory drug-induced) Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Acute urticaria and angioedema (non-steroidal anti-inflammatory drug-induced) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. Gene Set From Reactome Pathways 2014 proteins participating in the Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. pathway from the Reactome Pathways dataset.
Fas ligand pathway and stress induction of heat shock proteins Gene Set From WikiPathways Pathways 2024 proteins participating in the Fas ligand pathway and stress induction of heat shock proteins pathway from the WikiPathways Pathways 2024 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.
Urticaria Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Urticaria from the curated CTD Gene-Disease Associations dataset.
urticaria Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease urticaria from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
urticaria pigmentosa Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease urticaria pigmentosa in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
urticaria Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease urticaria in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
physical urticaria Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease physical urticaria in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
allergic urticaria Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease allergic urticaria in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
cholinergic urticaria Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease cholinergic urticaria in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
urticaria Gene Set From GAD Gene-Disease Associations genes associated with the disease urticaria in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
asthma; drug hypersensitivity; hypersensitivity, immediate; urticaria Gene Set From GAD Gene-Disease Associations genes associated with the disease asthma; drug hypersensitivity; hypersensitivity, immediate; urticaria in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
asthma, aspirin-induced; urticaria, aspirin-intolerant Gene Set From GAD Gene-Disease Associations genes associated with the disease asthma, aspirin-induced; urticaria, aspirin-intolerant in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
epilepsy; stevens-johnson syndrome; urticaria pigmentosa Gene Set From GAD Gene-Disease Associations genes associated with the disease epilepsy; stevens-johnson syndrome; urticaria pigmentosa in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
drug hypersensitivity; urticaria Gene Set From GAD Gene-Disease Associations genes associated with the disease drug hypersensitivity; urticaria in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
drug hypersensitivity; shock; urticaria Gene Set From GAD Gene-Disease Associations genes associated with the disease drug hypersensitivity; shock; urticaria in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
urticaria/angioedema Gene Set From GAD Gene-Disease Associations genes associated with the disease urticaria/angioedema in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
angioedema; disease susceptibility; urticaria Gene Set From GAD Gene-Disease Associations genes associated with the disease angioedema; disease susceptibility; urticaria in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
angioedema; drug hypersensitivity; urticaria Gene Set From GAD Gene-Disease Associations genes associated with the disease angioedema; drug hypersensitivity; urticaria in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
asthma; urticaria Gene Set From GAD Gene-Disease Associations genes associated with the disease asthma; urticaria in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
disorders of excessive somnolence; fatigue; gastrointestinal diseases; respiratory tract infections; rhinitis; urticaria; xerostomia Gene Set From GAD Gene-Disease Associations genes associated with the disease disorders of excessive somnolence; fatigue; gastrointestinal diseases; respiratory tract infections; rhinitis; urticaria; xerostomia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
urticaria Gene Set From GeneRIF Biological Term Annotations genes co-occuring with the biological term urticaria in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
urticaria Gene Set From HPO Gene-Disease Associations genes associated with the urticaria phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
Urticaria Pigmentosa Gene Set From HuGE Navigator Gene-Phenotype Associations genes associated with the Urticaria Pigmentosa phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.
Urticaria Gene Set From HuGE Navigator Gene-Phenotype Associations genes associated with the Urticaria phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.
Urticaria Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Urticaria in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Acute Urticaria Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Acute Urticaria in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Chronic Urticaria Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Chronic Urticaria in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Vibratory Urticaria Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Vibratory Urticaria in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Chronic Idiopathic Urticaria Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Chronic Idiopathic Urticaria in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Dermodistortive Urticaria Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Dermodistortive Urticaria in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Dermatographic Urticaria Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Dermatographic Urticaria in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Autoimmune Urticaria Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Autoimmune Urticaria in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Cholinergic Urticaria Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Cholinergic Urticaria in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Urticaria Pigmentosa Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Urticaria Pigmentosa in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Chronic Autoimmune Urticaria Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Chronic Autoimmune Urticaria in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Contact Urticaria Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Contact Urticaria in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Solar Urticaria Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Solar Urticaria in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Urticaria Medicamentosa Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Urticaria Medicamentosa in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Urticaria Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Urticaria from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Vibratory urticaria Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Vibratory urticaria from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Physical urticaria Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Physical urticaria from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Vibratory urticaria Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Vibratory urticaria in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Physical urticaria Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Physical urticaria in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Urticaria Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Urticaria in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Chronic urticaria Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Chronic urticaria in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Chronic spontaneous urticaria Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Chronic spontaneous urticaria in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Chronic inducible urticaria Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Chronic inducible urticaria in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Cholinergic urticaria Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Cholinergic urticaria in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Allergic urticaria Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Allergic urticaria in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Urticaria pigmentosa Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Urticaria pigmentosa in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Vibratory urticaria Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Vibratory urticaria phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Autosomal dominant vibratory urticaria Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal dominant vibratory urticaria phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Cold-induced sweating syndrome 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cold-induced sweating syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cold-Induced Sweating Syndrome 1 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Cold-Induced Sweating Syndrome 1 from the curated CTD Gene-Disease Associations dataset.
Common Cold Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Common Cold 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.
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.
common cold Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease common cold in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
common cold; otitis media; picornaviridae infections Gene Set From GAD Gene-Disease Associations genes associated with the disease common cold; otitis media; picornaviridae infections in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
common cold; Gene Set From GAD Gene-Disease Associations genes associated with the disease common cold; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
allergies; common cold Gene Set From GAD Gene-Disease Associations genes associated with the disease allergies; common cold in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
cold Gene Set From GeneRIF Biological Term Annotations genes co-occuring with the biological term cold in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
cold acclimation Gene Set From GO Biological Process Annotations 2015 genes participating in the cold acclimation biological process from the curated GO Biological Process Annotations 2015 dataset.
cellular response to cold Gene Set From GO Biological Process Annotations 2015 genes participating in the cellular response to cold biological process from the curated GO Biological Process Annotations 2015 dataset.
response to cold Gene Set From GO Biological Process Annotations 2015 genes participating in the response to cold biological process from the curated GO Biological Process Annotations 2015 dataset.
Blood pressure measurement (cold pressor test) Gene Set From GWAS Catalog SNP-Phenotype Associations genes associated with the Blood pressure measurement (cold pressor test) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.
cold-induced hand cramps Gene Set From HPO Gene-Disease Associations genes associated with the cold-induced hand cramps phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
cold-induced muscle cramps Gene Set From HPO Gene-Disease Associations genes associated with the cold-induced muscle cramps phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
Common Cold Gene Set From HuGE Navigator Gene-Phenotype Associations genes associated with the Common Cold phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.
Cold-shock protein, DNA-binding Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Cold-shock protein, DNA-binding protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Cold shock protein Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Cold shock protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Cold-shock conserved site Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Cold-shock conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.
familial cold-induced inflammatory syndrome 1 Gene Set From OMIM Gene-Disease Associations genes associated with the familial cold-induced inflammatory syndrome 1 phenotype from the curated OMIM Gene-Disease Associations dataset.
?familial cold autoinflammatory syndrome 4 Gene Set From OMIM Gene-Disease Associations genes associated with the ?familial cold autoinflammatory syndrome 4 phenotype from the curated OMIM Gene-Disease Associations dataset.
cold-induced sweating syndrome 1 Gene Set From OMIM Gene-Disease Associations genes associated with the cold-induced sweating syndrome 1 phenotype from the curated OMIM Gene-Disease Associations dataset.
cold-induced sweating syndrome 2 Gene Set From OMIM Gene-Disease Associations genes associated with the cold-induced sweating syndrome 2 phenotype from the curated OMIM Gene-Disease Associations dataset.
familial cold autoinflammatory syndrome 3 Gene Set From OMIM Gene-Disease Associations genes associated with the familial cold autoinflammatory syndrome 3 phenotype from the curated OMIM Gene-Disease Associations dataset.
familial cold autoinflammatory syndrome 2 Gene Set From OMIM Gene-Disease Associations genes associated with the familial cold autoinflammatory syndrome 2 phenotype from the curated OMIM Gene-Disease Associations dataset.
Common Cold Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Common Cold in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Cold Hypersensitivity Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Cold Hypersensitivity in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Cold-Induced Sweating Syndrome Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Cold-Induced Sweating Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Crisponi/Cold-Induced Sweating Syndrome 3 Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Crisponi/Cold-Induced Sweating Syndrome 3 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Familial Cold Autoinflammatory Syndrome Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Familial Cold Autoinflammatory Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Cold Hemagglutinin Disease Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Cold Hemagglutinin Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Cold Paroxysmal Hemoglobinuria Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Cold Paroxysmal Hemoglobinuria in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Thyroid Cold Nodule Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Thyroid Cold Nodule in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Cold Symptoms Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Cold Symptoms in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Cold-Induced Hand Cramps Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Cold-Induced Hand Cramps in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Cold-Induced Muscle Cramps Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Cold-Induced Muscle Cramps in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Cold Paresis Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Cold Paresis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Cold-Sensitive Myotonia Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Cold-Sensitive Myotonia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Feeling Cold Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Feeling Cold in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
negative regulation of cold-induced thermogenesis Gene Set From GO Biological Process Annotations 2023 genes participating in the negative regulation of cold-induced thermogenesis biological process from the curated GO Biological Process Annotations 2023 dataset.
positive regulation of cold-induced thermogenesis Gene Set From GO Biological Process Annotations 2023 genes participating in the positive regulation of cold-induced thermogenesis biological process from the curated GO Biological Process Annotations 2023 dataset.
cellular response to cold Gene Set From GO Biological Process Annotations 2023 genes participating in the cellular response to cold biological process from the curated GO Biological Process Annotations 2023 dataset.
detection of cold stimulus involved in thermoception Gene Set From GO Biological Process Annotations 2023 genes participating in the detection of cold stimulus involved in thermoception biological process from the curated GO Biological Process Annotations 2023 dataset.
regulation of cold-induced thermogenesis Gene Set From GO Biological Process Annotations 2023 genes participating in the regulation of cold-induced thermogenesis biological process from the curated GO Biological Process Annotations 2023 dataset.
cold acclimation Gene Set From GO Biological Process Annotations 2023 genes participating in the cold acclimation biological process from the curated GO Biological Process Annotations 2023 dataset.
sensory perception of cold stimulus Gene Set From GO Biological Process Annotations 2023 genes participating in the sensory perception of cold stimulus biological process from the curated GO Biological Process Annotations 2023 dataset.
negative regulation of cold-induced thermogenesis Gene Set From GO Biological Process Annotations 2025 genes participating in the negative regulation of cold-induced thermogenesis biological process from the curated GO Biological Process Annotations 2025 dataset.
positive regulation of cold-induced thermogenesis Gene Set From GO Biological Process Annotations 2025 genes participating in the positive regulation of cold-induced thermogenesis biological process from the curated GO Biological Process Annotations 2025 dataset.
cellular response to cold Gene Set From GO Biological Process Annotations 2025 genes participating in the cellular response to cold biological process from the curated GO Biological Process Annotations 2025 dataset.
detection of cold stimulus involved in thermoception Gene Set From GO Biological Process Annotations 2025 genes participating in the detection of cold stimulus involved in thermoception biological process from the curated GO Biological Process Annotations 2025 dataset.
regulation of cold-induced thermogenesis Gene Set From GO Biological Process Annotations 2025 genes participating in the regulation of cold-induced thermogenesis biological process from the curated GO Biological Process Annotations 2025 dataset.
cold acclimation Gene Set From GO Biological Process Annotations 2025 genes participating in the cold acclimation biological process from the curated GO Biological Process Annotations 2025 dataset.
cold-induced thermogenesis Gene Set From GO Biological Process Annotations 2025 genes participating in the cold-induced thermogenesis biological process from the curated GO Biological Process Annotations 2025 dataset.
sensory perception of cold stimulus Gene Set From GO Biological Process Annotations 2025 genes participating in the sensory perception of cold stimulus biological process from the curated GO Biological Process Annotations 2025 dataset.
cold-induced sweating syndrome Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease cold-induced sweating syndrome from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Familial cold autoinflammatory syndrome 3 Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Familial cold autoinflammatory syndrome 3 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Familial cold autoinflammatory syndrome Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Familial cold autoinflammatory syndrome from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Common cold Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Common cold in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Familial cold autoinflammatory syndrome Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Familial cold autoinflammatory syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
cold-induced sweating syndrome Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease cold-induced sweating syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Familial cold autoinflammatory syndrome 2 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Familial cold autoinflammatory syndrome 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Familial cold autoinflammatory syndrome 4 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Familial cold autoinflammatory syndrome 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Familial cold autoinflammatory syndrome 3 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Familial cold autoinflammatory syndrome 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Familial cold autoinflammatory syndrome 1 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Familial cold autoinflammatory syndrome 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
cold-induced sweating syndrome 2 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease cold-induced sweating syndrome 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
cold-induced sweating syndrome 1 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease cold-induced sweating syndrome 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
cold-induced sweating syndrome 3 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease cold-induced sweating syndrome 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Familial cold autoinflammatory syndrome Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Familial cold autoinflammatory syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Cold-induced sweating syndrome Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Cold-induced sweating syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Cold medicine-related Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) with severe ocular complications Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Cold medicine-related Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) with severe ocular complications phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Cold sores Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Cold sores phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Blood pressure measurement (cold pressor test) Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Blood pressure measurement (cold pressor test) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Cold medicine-related Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) with severe mucosal involvement Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Cold medicine-related Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) with severe mucosal involvement phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
hemolysis of donated blood (cold-storage) Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the hemolysis of donated blood (cold-storage) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Heat Stress Disorders Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Heat Stress Disorders from the curated CTD Gene-Disease Associations dataset.
Heat Stroke Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Heat Stroke from the curated CTD Gene-Disease Associations dataset.
levels of antibodies to 60-kda heat-shock proteins Gene Set From GAD Gene-Disease Associations genes associated with the disease levels of antibodies to 60-kda heat-shock proteins in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
heat stress disorders Gene Set From GAD Gene-Disease Associations genes associated with the disease heat stress disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
heat Gene Set From GeneRIF Biological Term Annotations genes co-occuring with the biological term heat in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
heat acclimation Gene Set From GO Biological Process Annotations 2015 genes participating in the heat acclimation biological process from the curated GO Biological Process Annotations 2015 dataset.
cellular response to heat Gene Set From GO Biological Process Annotations 2015 genes participating in the cellular response to heat biological process from the curated GO Biological Process Annotations 2015 dataset.
regulation of cellular response to heat Gene Set From GO Biological Process Annotations 2015 genes participating in the regulation of cellular response to heat biological process from the curated GO Biological Process Annotations 2015 dataset.
cellular heat acclimation Gene Set From GO Biological Process Annotations 2015 genes participating in the cellular heat acclimation biological process from the curated GO Biological Process Annotations 2015 dataset.
negative regulation of heat generation Gene Set From GO Biological Process Annotations 2015 genes participating in the negative regulation of heat generation biological process from the curated GO Biological Process Annotations 2015 dataset.
response to heat Gene Set From GO Biological Process Annotations 2015 genes participating in the response to heat biological process from the curated GO Biological Process Annotations 2015 dataset.
mrna export from nucleus in response to heat stress Gene Set From GO Biological Process Annotations 2015 genes participating in the mrna export from nucleus in response to heat stress biological process from the curated GO Biological Process Annotations 2015 dataset.
positive regulation of heat generation Gene Set From GO Biological Process Annotations 2015 genes participating in the positive regulation of heat generation biological process from the curated GO Biological Process Annotations 2015 dataset.
heat generation Gene Set From GO Biological Process Annotations 2015 genes participating in the heat generation biological process from the curated GO Biological Process Annotations 2015 dataset.
negative regulation of cellular response to heat Gene Set From GO Biological Process Annotations 2015 genes participating in the negative regulation of cellular response to heat biological process from the curated GO Biological Process Annotations 2015 dataset.
regulation of heat generation Gene Set From GO Biological Process Annotations 2015 genes participating in the regulation of heat generation biological process from the curated GO Biological Process Annotations 2015 dataset.
heat shock protein binding Gene Set From GO Molecular Function Annotations 2015 genes performing the heat shock protein binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.
5-HEAT Gene Set From Guide to Pharmacology Chemical Ligands of Receptors receptors of the 5-HEAT ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.
E. coli heat-stable enterotoxin (ST_a) Gene Set From Guide to Pharmacology Chemical Ligands of Receptors receptors of the E. coli heat-stable enterotoxin (ST_a) ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.
[¹²⁵I]HEAT Gene Set From Guide to Pharmacology Chemical Ligands of Receptors receptors of the [¹²⁵I]HEAT ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.
heat intolerance Gene Set From HPO Gene-Disease Associations genes associated with the heat intolerance phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
Heat Stroke Gene Set From HuGE Navigator Gene-Phenotype Associations genes associated with the Heat Stroke phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.
Heat Stress Disorders Gene Set From HuGE Navigator Gene-Phenotype Associations genes associated with the Heat Stress Disorders phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.
HEAT Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the HEAT protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Heat shock factor protein 2 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Heat shock factor protein 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Heat shock factor protein 1 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Heat shock factor protein 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Heat shock factor protein 5 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Heat shock factor protein 5 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Heat shock 70kDa protein 12B Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Heat shock 70kDa protein 12B protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Heat shock factor protein 4 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Heat shock factor protein 4 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Heat shock transcription factor family Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Heat shock transcription factor family protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Heat shock protein Hsp90, conserved site Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Heat shock protein Hsp90, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Heat shock 70kDa protein 12A Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Heat shock 70kDa protein 12A protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Heat shock factor (HSF)-type, DNA-binding Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Heat shock factor (HSF)-type, DNA-binding protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Alpha crystallin/Heat shock protein Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Alpha crystallin/Heat shock protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Heat shock factor binding 1 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Heat shock factor binding 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Heat shock transcription factor, Y-linked Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Heat shock transcription factor, Y-linked protein domain from the InterPro Predicted Protein Domain Annotations dataset.
HEAT repeat associated with sister chromatid cohesion protein Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the HEAT repeat associated with sister chromatid cohesion protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Heat shock protein 70, conserved site Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Heat shock protein 70, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Heat shock protein 70kD, peptide-binding domain Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Heat shock protein 70kD, peptide-binding domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.
HEAT, type 2 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the HEAT, type 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Heat shock protein DnaJ, cysteine-rich domain Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Heat shock protein DnaJ, cysteine-rich domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.
PBS lyase HEAT-like repeat Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the PBS lyase HEAT-like repeat protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Heat shock chaperonin-binding Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Heat shock chaperonin-binding protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Heat shock protein 70kD, C-terminal domain Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Heat shock protein 70kD, C-terminal domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Smaug, pseudo-HEAT analogous topology Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Smaug, pseudo-HEAT analogous topology protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Heat shock transcription factor, X-linked Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Heat shock transcription factor, X-linked protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Heat shock protein 70 family Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Heat shock protein 70 family protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Heat shock protein Hsp90, N-terminal Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Heat shock protein Hsp90, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Vertebrate heat shock transcription factor, C-terminal domain Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Vertebrate heat shock transcription factor, C-terminal domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Heat shock protein Hsp90 family Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Heat shock protein Hsp90 family protein domain from the InterPro Predicted Protein Domain Annotations dataset.
heat-shock-proteins Gene Set From Phosphosite Textmining Biological Term Annotations proteins co-occuring with the biological term heat-shock-proteins in abstracts of publications describing phosphosites from the Phosphosite Textmining Biological Term Annotations dataset.
heat Gene Set From Phosphosite Textmining Biological Term Annotations proteins co-occuring with the biological term heat in abstracts of publications describing phosphosites from the Phosphosite Textmining Biological Term Annotations dataset.
Regulation of HSF1-mediated heat shock response Gene Set From Reactome Pathways 2014 proteins participating in the Regulation of HSF1-mediated heat shock response pathway from the Reactome Pathways dataset.
Cellular response to heat stress Gene Set From Reactome Pathways 2014 proteins participating in the Cellular response to heat stress pathway from the Reactome Pathways dataset.
Heat Stress Disorders Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Heat Stress Disorders in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Intolerant Of Heat Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Intolerant Of Heat in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Effects Of Heat Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Effects Of Heat in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
cellular response to heat Gene Set From GO Biological Process Annotations 2023 genes participating in the cellular response to heat biological process from the curated GO Biological Process Annotations 2023 dataset.
regulation of cellular response to heat Gene Set From GO Biological Process Annotations 2023 genes participating in the regulation of cellular response to heat biological process from the curated GO Biological Process Annotations 2023 dataset.
cellular heat acclimation Gene Set From GO Biological Process Annotations 2023 genes participating in the cellular heat acclimation biological process from the curated GO Biological Process Annotations 2023 dataset.
mRNA export from nucleus in response to heat stress Gene Set From GO Biological Process Annotations 2023 genes participating in the mRNA export from nucleus in response to heat stress biological process from the curated GO Biological Process Annotations 2023 dataset.
positive regulation of cellular response to heat Gene Set From GO Biological Process Annotations 2023 genes participating in the positive regulation of cellular response to heat biological process from the curated GO Biological Process Annotations 2023 dataset.
positive regulation of heat generation Gene Set From GO Biological Process Annotations 2023 genes participating in the positive regulation of heat generation biological process from the curated GO Biological Process Annotations 2023 dataset.
regulation of heat generation Gene Set From GO Biological Process Annotations 2023 genes participating in the regulation of heat generation biological process from the curated GO Biological Process Annotations 2023 dataset.
heat acclimation Gene Set From GO Biological Process Annotations 2023 genes participating in the heat acclimation biological process from the curated GO Biological Process Annotations 2023 dataset.
Cellular response to heat stress Gene Set From Reactome Pathways 2024 proteins participating in the Cellular response to heat stress pathway from the Reactome Pathways 2024 dataset.
Regulation of HSF1-mediated heat shock response Gene Set From Reactome Pathways 2024 proteins participating in the Regulation of HSF1-mediated heat shock response pathway from the Reactome Pathways 2024 dataset.
cellular response to heat Gene Set From GO Biological Process Annotations 2025 genes participating in the cellular response to heat biological process from the curated GO Biological Process Annotations 2025 dataset.
regulation of cellular response to heat Gene Set From GO Biological Process Annotations 2025 genes participating in the regulation of cellular response to heat biological process from the curated GO Biological Process Annotations 2025 dataset.
cellular heat acclimation Gene Set From GO Biological Process Annotations 2025 genes participating in the cellular heat acclimation biological process from the curated GO Biological Process Annotations 2025 dataset.
mRNA export from nucleus in response to heat stress Gene Set From GO Biological Process Annotations 2025 genes participating in the mRNA export from nucleus in response to heat stress biological process from the curated GO Biological Process Annotations 2025 dataset.
positive regulation of cellular response to heat Gene Set From GO Biological Process Annotations 2025 genes participating in the positive regulation of cellular response to heat biological process from the curated GO Biological Process Annotations 2025 dataset.
regulation of heat generation Gene Set From GO Biological Process Annotations 2025 genes participating in the regulation of heat generation biological process from the curated GO Biological Process Annotations 2025 dataset.
positive regulation of heat generation Gene Set From GO Biological Process Annotations 2025 genes participating in the positive regulation of heat generation biological process from the curated GO Biological Process Annotations 2025 dataset.
heat acclimation Gene Set From GO Biological Process Annotations 2025 genes participating in the heat acclimation biological process from the curated GO Biological Process Annotations 2025 dataset.
Exertional Heat Illness Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Exertional Heat Illness phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Heat shock protein complex Gene Set From CM4AI U2OS Cell Map Protein Localization Assemblies proteins comprising Heat shock protein complex assembly using integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset.
HEAT (BE2254) Gene Set From DGIdb Drug Targets 2026 interacting proteins for the HEAT (BE2254) drug from theDGIdb Drug Targets 2026 dataset.
[125I]HEAT (BE2254) Gene Set From DGIdb Drug Targets 2026 interacting proteins for the [125I]HEAT (BE2254) drug from theDGIdb Drug Targets 2026 dataset.
E. COLI HEAT-STABLE ENTEROTOXIN (STA) Gene Set From DGIdb Drug Targets 2026 interacting proteins for the E. COLI HEAT-STABLE ENTEROTOXIN (STA) drug from theDGIdb Drug Targets 2026 dataset.
5-HEAT Gene Set From DGIdb Drug Targets 2026 interacting proteins for the 5-HEAT drug from theDGIdb Drug Targets 2026 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.
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.
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.
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.
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.
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.
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.
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.
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.
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 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.
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.
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.
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.
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.
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.
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.
Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds Gene Set From Reactome Pathways 2014 proteins participating in the Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds pathway from the Reactome Pathways dataset.
Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
{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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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 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.
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 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 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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
basic mechanism of action of ppara pparb(d) and pparg and effects on gene expression Gene Set From Biocarta Pathways proteins participating in the basic mechanism of action of ppara pparb(d) and pparg and effects on gene expression pathway from the Biocarta Pathways dataset.
BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer Gene Set From ClinVar Gene-Phenotype Associations genes associated with the BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Coloboma, uveal, with cleft lip and palate and mental retardation Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Coloboma, uveal, with cleft lip and palate and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hypomyelination with brainstem and spinal cord involvement and leg spasticity Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hypomyelination with brainstem and spinal cord involvement and leg spasticity phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mental retardation and microcephaly with pontine and cerebellar hypoplasia Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mental retardation and microcephaly with pontine and cerebellar hypoplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Diabetes mellitus AND insipidus with optic atrophy AND deafness Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Diabetes mellitus AND insipidus with optic atrophy AND deafness phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
TRICHOTHIODYSTROPHY, PHOTOSENSITIVE;TTDP ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease TRICHOTHIODYSTROPHY, PHOTOSENSITIVE;TTDP ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH from the curated CTD Gene-Disease Associations dataset.
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation from the curated CTD Gene-Disease Associations dataset.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities from the curated CTD Gene-Disease Associations dataset.
Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia from the curated CTD Gene-Disease Associations dataset.
Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux from the curated CTD Gene-Disease Associations dataset.
Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations from the curated CTD Gene-Disease Associations dataset.
postheparin plasma lipase activities body fat and plasma lipid and lipoprotein concentrations Gene Set From GAD Gene-Disease Associations genes associated with the disease postheparin plasma lipase activities body fat and plasma lipid and lipoprotein concentrations in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
anxiety and hostility and depression Gene Set From GAD Gene-Disease Associations genes associated with the disease anxiety and hostility and depression in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
charcot-marie-tooth disease; hereditary motor and sensory neuropathies; hereditary sensory and motor neuropathy Gene Set From GAD Gene-Disease Associations genes associated with the disease charcot-marie-tooth disease; hereditary motor and sensory neuropathies; hereditary sensory and motor neuropathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
frontotemporal dementia and pick-like 3r and 4r tauopathy Gene Set From GAD Gene-Disease Associations genes associated with the disease frontotemporal dementia and pick-like 3r and 4r tauopathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
adipose tissue lipoprotein lipase activity and lipoprotein lipid and glucose concentrations Gene Set From GAD Gene-Disease Associations genes associated with the disease adipose tissue lipoprotein lipase activity and lipoprotein lipid and glucose concentrations in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
squamous cell carcinomas of the head and neck (scchn) and breast cancer Gene Set From GAD Gene-Disease Associations genes associated with the disease squamous cell carcinomas of the head and neck (scchn) and breast cancer in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
vitamins and metabolites in pregnant women and neonates Gene Set From GAD Gene-Disease Associations genes associated with the disease vitamins and metabolites in pregnant women and neonates in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
racemase and epimerase activity, acting on amino acids and derivatives Gene Set From GO Molecular Function Annotations 2015 genes performing the racemase and epimerase activity, acting on amino acids and derivatives molecular function from the curated GO Molecular Function Annotations 2015 dataset.
racemase and epimerase activity, acting on carbohydrates and derivatives Gene Set From GO Molecular Function Annotations 2015 genes performing the racemase and epimerase activity, acting on carbohydrates and derivatives molecular function from the curated GO Molecular Function Annotations 2015 dataset.
leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation Gene Set From OMIM Gene-Disease Associations genes associated with the leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation phenotype from the curated OMIM Gene-Disease Associations dataset.
microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma Gene Set From OMIM Gene-Disease Associations genes associated with the microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma phenotype from the curated OMIM Gene-Disease Associations dataset.
hypomyelination with brainstem and spinal cord involvement and leg spasticity Gene Set From OMIM Gene-Disease Associations genes associated with the hypomyelination with brainstem and spinal cord involvement and leg spasticity phenotype from the curated OMIM Gene-Disease Associations dataset.
microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations Gene Set From OMIM Gene-Disease Associations genes associated with the microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations phenotype from the curated OMIM Gene-Disease Associations dataset.
mental retardation and microcephaly with pontine and cerebellar hypoplasia Gene Set From OMIM Gene-Disease Associations genes associated with the mental retardation and microcephaly with pontine and cerebellar hypoplasia phenotype from the curated OMIM Gene-Disease Associations dataset.
microcephaly, progressive, seizures, and cerebral and cerebellar atrophy Gene Set From OMIM Gene-Disease Associations genes associated with the microcephaly, progressive, seizures, and cerebral and cerebellar atrophy phenotype from the curated OMIM Gene-Disease Associations dataset.
craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies Gene Set From OMIM Gene-Disease Associations genes associated with the craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies phenotype from the curated OMIM Gene-Disease Associations dataset.
Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S Gene Set From Reactome Pathways 2014 proteins participating in the Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S pathway from the Reactome Pathways dataset.
Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding Gene Set From Reactome Pathways 2014 proteins participating in the Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding pathway from the Reactome Pathways dataset.
PI and PC transport between ER and Golgi membranes Gene Set From Reactome Pathways 2014 proteins participating in the PI and PC transport between ER and Golgi membranes pathway from the Reactome Pathways dataset.
Orexin and neuropeptides FF and QRFP bind to their respective receptors Gene Set From Reactome Pathways 2014 proteins participating in the Orexin and neuropeptides FF and QRFP bind to their respective receptors pathway from the Reactome Pathways dataset.
FGFR1c and Klotho ligand binding and activation Gene Set From Reactome Pathways 2014 proteins participating in the FGFR1c and Klotho ligand binding and activation pathway from the Reactome Pathways dataset.
Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane Gene Set From Reactome Pathways 2014 proteins participating in the Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane pathway from the Reactome Pathways dataset.
Synthesis and processing of ENV and VPU Gene Set From Reactome Pathways 2014 proteins participating in the Synthesis and processing of ENV and VPU pathway from the Reactome Pathways dataset.
Synthesis and interconversion of nucleotide di- and triphosphates Gene Set From Reactome Pathways 2014 proteins participating in the Synthesis and interconversion of nucleotide di- and triphosphates pathway from the Reactome Pathways dataset.
SREBF and miR33 in cholesterol and lipid homeostasis(Homo sapiens) Gene Set From WikiPathways Pathways 2014 proteins participating in the SREBF and miR33 in cholesterol and lipid homeostasis(Homo sapiens) pathway from the WikiPathways Pathways 2014 dataset.
SREBF and miR33 in cholesterol and lipid homeostasis(Mus musculus) Gene Set From WikiPathways Pathways 2014 proteins participating in the SREBF and miR33 in cholesterol and lipid homeostasis(Mus musculus) pathway from the WikiPathways Pathways 2014 dataset.
SRF and miRs in Smooth Muscle Differentiation and Proliferation(Homo sapiens) Gene Set From WikiPathways Pathways 2014 proteins participating in the SRF and miRs in Smooth Muscle Differentiation and Proliferation(Homo sapiens) pathway from the WikiPathways Pathways 2014 dataset.
High-Grade B-Cell Lymphoma, With Myc And Bcl2 And/Or Bcl6 Rearrangements Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease High-Grade B-Cell Lymphoma, With Myc And Bcl2 And/Or Bcl6 Rearrangements in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Hypomyelination With Brain Stem And Spinal Cord Involvement And Leg Spasticity Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Hypomyelination With Brain Stem And Spinal Cord Involvement And Leg Spasticity in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Growth And Mental Retardation, Mandibulofacial Dysostosis, Microcephaly, And Cleft Palate Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Growth And Mental Retardation, Mandibulofacial Dysostosis, Microcephaly, And Cleft Palate in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Anal Intraepithelial Neoplasia I And Ii (Ain I And Ii) (Histologically Confirmed) Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Anal Intraepithelial Neoplasia I And Ii (Ain I And Ii) (Histologically Confirmed) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
racemase and epimerase activity, acting on carbohydrates and derivatives Gene Set From GO Molecular Function Annotations 2023 genes performing the racemase and epimerase activity, acting on carbohydrates and derivatives molecular function from the curated GO Molecular Function Annotations 2023 dataset.
SRF and miRs in smooth muscle differentiation and proliferation Gene Set From WikiPathways Pathways 2024 proteins participating in the SRF and miRs in smooth muscle differentiation and proliferation pathway from the WikiPathways Pathways 2024 dataset.
SREBF and miR33 in cholesterol and lipid homeostasis Gene Set From WikiPathways Pathways 2024 proteins participating in the SREBF and miR33 in cholesterol and lipid homeostasis pathway from the WikiPathways Pathways 2024 dataset.
RIOK1 and RIOK2 in EGFR and PI3K mediated tumorigenesis Gene Set From WikiPathways Pathways 2024 proteins participating in the RIOK1 and RIOK2 in EGFR and PI3K mediated tumorigenesis pathway from the WikiPathways Pathways 2024 dataset.
ApoE and miR 146 in inflammation and atherosclerosis Gene Set From WikiPathways Pathways 2024 proteins participating in the ApoE and miR 146 in inflammation and atherosclerosis pathway from the WikiPathways Pathways 2024 dataset.
Biosynthesis and regeneration of tetrahydrobiopterin and catabolism of phenylalanine Gene Set From WikiPathways Pathways 2024 proteins participating in the Biosynthesis and regeneration of tetrahydrobiopterin and catabolism of phenylalanine pathway from the WikiPathways Pathways 2024 dataset.
Somatroph axis GH and its relationship to dietary restriction and aging Gene Set From WikiPathways Pathways 2024 proteins participating in the Somatroph axis GH and its relationship to dietary restriction and aging pathway from the WikiPathways Pathways 2024 dataset.
Mechanoregulation and pathology of YAP TAZ via Hippo and non Hippo mechanisms Gene Set From WikiPathways Pathways 2024 proteins participating in the Mechanoregulation and pathology of YAP TAZ via Hippo and non Hippo mechanisms pathway from the WikiPathways Pathways 2024 dataset.
GLP 1 from intestine and pancreas and role in glucose homeostasis Gene Set From WikiPathways Pathways 2024 proteins participating in the GLP 1 from intestine and pancreas and role in glucose homeostasis pathway from the WikiPathways Pathways 2024 dataset.
Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S Gene Set From Reactome Pathways 2024 proteins participating in the Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S pathway from the Reactome Pathways 2024 dataset.
Biosynthesis of protectin and resolvin conjugates in tissue regeneration (PCTR and RCTR) Gene Set From Reactome Pathways 2024 proteins participating in the Biosynthesis of protectin and resolvin conjugates in tissue regeneration (PCTR and RCTR) pathway from the Reactome Pathways 2024 dataset.
Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding Gene Set From Reactome Pathways 2024 proteins participating in the Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding pathway from the Reactome Pathways 2024 dataset.
FGFR1c and Klotho ligand binding and activation Gene Set From Reactome Pathways 2024 proteins participating in the FGFR1c and Klotho ligand binding and activation pathway from the Reactome Pathways 2024 dataset.
MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis Gene Set From Reactome Pathways 2024 proteins participating in the MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis pathway from the Reactome Pathways 2024 dataset.
Orexin and neuropeptides FF and QRFP bind to their respective receptors Gene Set From Reactome Pathways 2024 proteins participating in the Orexin and neuropeptides FF and QRFP bind to their respective receptors pathway from the Reactome Pathways 2024 dataset.
PI and PC transport between ER and Golgi membranes Gene Set From Reactome Pathways 2024 proteins participating in the PI and PC transport between ER and Golgi membranes pathway from the Reactome Pathways 2024 dataset.
PTK6 Regulates RTKs and Their Effectors AKT1 and DOK1 Gene Set From Reactome Pathways 2024 proteins participating in the PTK6 Regulates RTKs and Their Effectors AKT1 and DOK1 pathway from the Reactome Pathways 2024 dataset.
Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks Gene Set From Reactome Pathways 2024 proteins participating in the Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks pathway from the Reactome Pathways 2024 dataset.
Synthesis and processing of ENV and VPU Gene Set From Reactome Pathways 2024 proteins participating in the Synthesis and processing of ENV and VPU pathway from the Reactome Pathways 2024 dataset.
Transcriptional and post-translational regulation of MITF-M expression and activity Gene Set From Reactome Pathways 2024 proteins participating in the Transcriptional and post-translational regulation of MITF-M expression and activity pathway from the Reactome Pathways 2024 dataset.
Transport of bile salts and organic acids, metal ions and amine compounds Gene Set From Reactome Pathways 2024 proteins participating in the Transport of bile salts and organic acids, metal ions and amine compounds pathway from the Reactome Pathways 2024 dataset.
Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane Gene Set From Reactome Pathways 2024 proteins participating in the Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane pathway from the Reactome Pathways 2024 dataset.
racemase and epimerase activity, acting on carbohydrates and derivatives Gene Set From GO Molecular Function Annotations 2025 genes performing the racemase and epimerase activity, acting on carbohydrates and derivatives molecular function from the curated GO Molecular Function Annotations 2025 dataset.
Vertebral anomalies and variable endocrine and T-cell dysfunction Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Vertebral anomalies and variable endocrine and T-cell dysfunction in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Vertebral anomalies and variable endocrine and T-cell dysfunction Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Vertebral anomalies and variable endocrine and T-cell dysfunction phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Regulation of gene expression and signal transduction in immune and stress responses Gene Set From CM4AI U2OS Cell Map Protein Localization Assemblies proteins comprising Regulation of gene expression and signal transduction in immune and stress responses assembly using integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset.
Gastroesophageal reflux disease, peptic ulcer disease and/or corresponding medications and treatment Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Gastroesophageal reflux disease, peptic ulcer disease and/or corresponding medications and treatment phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Basic cell groups and regions Gene Set From Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles genes with high or low expression in Basic cell groups and regions relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
head and face region of M1 Gene Set From Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles genes with high or low expression in head and face region of M1 relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
telomeres telomerase cellular aging and immortality Gene Set From Biocarta Pathways proteins participating in the telomeres telomerase cellular aging and immortality pathway from the Biocarta Pathways dataset.
mcalpain and friends in cell motility Gene Set From Biocarta Pathways proteins participating in the mcalpain and friends in cell motility pathway from the Biocarta Pathways dataset.
role of ppar-gamma coactivators in obesity and thermogenesis Gene Set From Biocarta Pathways proteins participating in the role of ppar-gamma coactivators in obesity and thermogenesis pathway from the Biocarta Pathways dataset.
il12 and stat4 dependent signaling pathway in th1 development Gene Set From Biocarta Pathways proteins participating in the il12 and stat4 dependent signaling pathway in th1 development pathway from the Biocarta Pathways dataset.
hypoxia and p53 in the cardiovascular system Gene Set From Biocarta Pathways proteins participating in the hypoxia and p53 in the cardiovascular system pathway from the Biocarta Pathways dataset.
lissencephaly gene (lis1) in neuronal migration and development Gene Set From Biocarta Pathways proteins participating in the lissencephaly gene (lis1) in neuronal migration and development pathway from the Biocarta Pathways dataset.
role of erbb2 in signal transduction and oncology Gene Set From Biocarta Pathways proteins participating in the role of erbb2 in signal transduction and oncology pathway from the Biocarta Pathways dataset.
corticosteroids and cardioprotection Gene Set From Biocarta Pathways proteins participating in the corticosteroids and cardioprotection pathway from the Biocarta Pathways dataset.
cyclins and cell cycle regulation Gene Set From Biocarta Pathways proteins participating in the cyclins and cell cycle regulation pathway from the Biocarta Pathways dataset.
mechanism of acetaminophen activity and toxicity Gene Set From Biocarta Pathways proteins participating in the mechanism of acetaminophen activity and toxicity pathway from the Biocarta Pathways dataset.
nfat and hypertrophy of the heart Gene Set From Biocarta Pathways proteins participating in the nfat and hypertrophy of the heart pathway from the Biocarta Pathways dataset.
acetylation and deacetylation of rela in nucleus Gene Set From Biocarta Pathways proteins participating in the acetylation and deacetylation of rela in nucleus pathway from the Biocarta Pathways dataset.
thrombin signaling and protease-activated receptors Gene Set From Biocarta Pathways proteins participating in the thrombin signaling and protease-activated receptors pathway from the Biocarta Pathways dataset.
antigen processing and presentation Gene Set From Biocarta Pathways proteins participating in the antigen processing and presentation pathway from the Biocarta Pathways dataset.
stathmin and breast cancer resistance to antimicrotubule agents Gene Set From Biocarta Pathways proteins participating in the stathmin and breast cancer resistance to antimicrotubule agents pathway from the Biocarta Pathways dataset.
role of ß-arrestins in the activation and targeting of map kinases Gene Set From Biocarta Pathways proteins participating in the role of ß-arrestins in the activation and targeting of map kinases pathway from the Biocarta Pathways dataset.
cystic fibrosis transmembrane conductance regulator (cftr) and beta 2 adrenergic receptor (b2ar) pathway Gene Set From Biocarta Pathways proteins participating in the cystic fibrosis transmembrane conductance regulator (cftr) and beta 2 adrenergic receptor (b2ar) pathway pathway from the Biocarta Pathways dataset.
role of pi3k subunit p85 in regulation of actin organization and cell migration Gene Set From Biocarta Pathways proteins participating in the role of pi3k subunit p85 in regulation of actin organization and cell migration pathway from the Biocarta Pathways dataset.
btg family proteins and cell cycle regulation Gene Set From Biocarta Pathways proteins participating in the btg family proteins and cell cycle regulation pathway from the Biocarta Pathways dataset.
control of skeletal myogenesis by hdac and calcium/calmodulin-dependent kinase (camk) Gene Set From Biocarta Pathways proteins participating in the control of skeletal myogenesis by hdac and calcium/calmodulin-dependent kinase (camk) pathway from the Biocarta Pathways dataset.
endocytotic role of ndk phosphins and dynamin Gene Set From Biocarta Pathways proteins participating in the endocytotic role of ndk phosphins and dynamin pathway from the Biocarta Pathways dataset.
regulation of eif-4e and p70s6 kinase Gene Set From Biocarta Pathways proteins participating in the regulation of eif-4e and p70s6 kinase pathway from the Biocarta Pathways dataset.
estrogen responsive protein efp controls cell cycle and breast tumors growth Gene Set From Biocarta Pathways proteins participating in the estrogen responsive protein efp controls cell cycle and breast tumors growth pathway from the Biocarta Pathways dataset.
vegf hypoxia and angiogenesis Gene Set From Biocarta Pathways proteins participating in the vegf hypoxia and angiogenesis pathway from the Biocarta Pathways dataset.
yaci and bcma stimulation of b cell immune responses Gene Set From Biocarta Pathways proteins participating in the yaci and bcma stimulation of b cell immune responses pathway from the Biocarta Pathways dataset.
lck and fyn tyrosine kinases in initiation of tcr activation Gene Set From Biocarta Pathways proteins participating in the lck and fyn tyrosine kinases in initiation of tcr activation pathway from the Biocarta Pathways dataset.
hiv-1 nef: negative effector of fas and tnf Gene Set From Biocarta Pathways proteins participating in the hiv-1 nef: negative effector of fas and tnf pathway from the Biocarta Pathways dataset.
nuclear receptors coordinate the activities of chromatin remodeling complexes and coactivators to facilitate initiation of transcription in carcinoma cells Gene Set From Biocarta Pathways proteins participating in the nuclear receptors coordinate the activities of chromatin remodeling complexes and coactivators to facilitate initiation of transcription in carcinoma cells pathway from the Biocarta Pathways dataset.
ucalpain and friends in cell spread Gene Set From Biocarta Pathways proteins participating in the ucalpain and friends in cell spread pathway from the Biocarta Pathways dataset.
ionomycin and phorbal ester signaling pathway Gene Set From Biocarta Pathways proteins participating in the ionomycin and phorbal ester signaling pathway pathway from the Biocarta Pathways dataset.
carm1 and regulation of the estrogen receptor Gene Set From Biocarta Pathways proteins participating in the carm1 and regulation of the estrogen receptor pathway from the Biocarta Pathways dataset.
phosphoinositides and their downstream targets Gene Set From Biocarta Pathways proteins participating in the phosphoinositides and their downstream targets pathway from the Biocarta Pathways dataset.
melanocyte development and pigmentation pathway Gene Set From Biocarta Pathways proteins participating in the melanocyte development and pigmentation pathway pathway from the Biocarta Pathways dataset.
akap95 role in mitosis and chromosome dynamics Gene Set From Biocarta Pathways proteins participating in the akap95 role in mitosis and chromosome dynamics pathway from the Biocarta Pathways dataset.
transcription factor creb and its extracellular signals Gene Set From Biocarta Pathways proteins participating in the transcription factor creb and its extracellular signals pathway from the Biocarta Pathways dataset.
visceral fat deposits and the metabolic syndrome Gene Set From Biocarta Pathways proteins participating in the visceral fat deposits and the metabolic syndrome pathway from the Biocarta Pathways dataset.
the igf-1 receptor and longevity Gene Set From Biocarta Pathways proteins participating in the the igf-1 receptor and longevity pathway from the Biocarta Pathways dataset.
cdc25 and chk1 regulatory pathway in response to dna damage Gene Set From Biocarta Pathways proteins participating in the cdc25 and chk1 regulatory pathway in response to dna damage pathway from the Biocarta Pathways dataset.
human cytomegalovirus and map kinase pathways Gene Set From Biocarta Pathways proteins participating in the human cytomegalovirus and map kinase pathways pathway from the Biocarta Pathways dataset.
influence of ras and rho proteins on g1 to s transition Gene Set From Biocarta Pathways proteins participating in the influence of ras and rho proteins on g1 to s transition pathway from the Biocarta Pathways dataset.
proteolysis and signaling pathway of notch Gene Set From Biocarta Pathways proteins participating in the proteolysis and signaling pathway of notch pathway from the Biocarta Pathways dataset.
apoptotic dna-fragmentation and tissue homeostasis Gene Set From Biocarta Pathways proteins participating in the apoptotic dna-fragmentation and tissue homeostasis pathway from the Biocarta Pathways dataset.
ion channels and their functional role in vascular endothelium Gene Set From Biocarta Pathways proteins participating in the ion channels and their functional role in vascular endothelium pathway from the Biocarta Pathways dataset.
alpha-synuclein and parkin-mediated proteolysis in parkinson`s disease Gene Set From Biocarta Pathways proteins participating in the alpha-synuclein and parkin-mediated proteolysis in parkinson`s disease pathway from the Biocarta Pathways dataset.
fosb gene expression and drug abuse Gene Set From Biocarta Pathways proteins participating in the fosb gene expression and drug abuse pathway from the Biocarta Pathways dataset.
links between pyk2 and map kinases Gene Set From Biocarta Pathways proteins participating in the links between pyk2 and map kinases pathway from the Biocarta Pathways dataset.
opposing roles of aif in apoptosis and cell survival Gene Set From Biocarta Pathways proteins participating in the opposing roles of aif in apoptosis and cell survival pathway from the Biocarta Pathways dataset.
degradation of the rar and rxr by the proteasome Gene Set From Biocarta Pathways proteins participating in the degradation of the rar and rxr by the proteasome pathway from the Biocarta Pathways dataset.
cadmium induces dna synthesis and proliferation in macrophages Gene Set From Biocarta Pathways proteins participating in the cadmium induces dna synthesis and proliferation in macrophages pathway from the Biocarta Pathways dataset.
erk and pi-3 kinase are necessary for collagen binding in corneal epithelia Gene Set From Biocarta Pathways proteins participating in the erk and pi-3 kinase are necessary for collagen binding in corneal epithelia pathway from the Biocarta Pathways dataset.
role of brca1 brca2 and atr in cancer susceptibility Gene Set From Biocarta Pathways proteins participating in the role of brca1 brca2 and atr in cancer susceptibility pathway from the Biocarta Pathways dataset.
chrebp regulation by carbohydrates and camp Gene Set From Biocarta Pathways proteins participating in the chrebp regulation by carbohydrates and camp pathway from the Biocarta Pathways dataset.
pten dependent cell cycle arrest and apoptosis Gene Set From Biocarta Pathways proteins participating in the pten dependent cell cycle arrest and apoptosis pathway from the Biocarta Pathways dataset.
induction of apoptosis through dr3 and dr4/5 death receptors Gene Set From Biocarta Pathways proteins participating in the induction of apoptosis through dr3 and dr4/5 death receptors pathway from the Biocarta Pathways dataset.
CIITA-18437201-Raji B cells and iDC-human Gene Set From ChEA Transcription Factor Binding Site Profiles genes with transcription factor binding evidence in the CIITA-18437201-Raji B cells and iDC-human transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset.
FOXP2-23625967-PFSK-1 AND SK-N-MC-HUMAN Gene Set From ChEA Transcription Factor Binding Site Profiles genes with transcription factor binding evidence in the FOXP2-23625967-PFSK-1 AND SK-N-MC-HUMAN transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset.
VDR-23401126-LCL-AND-THP1-HUMAN Gene Set From ChEA Transcription Factor Binding Site Profiles genes with transcription factor binding evidence in the VDR-23401126-LCL-AND-THP1-HUMAN transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset.
YY1-23942234-MYOBLASTS AND MYOTUBES-MOUSE Gene Set From ChEA Transcription Factor Binding Site Profiles genes with transcription factor binding evidence in the YY1-23942234-MYOBLASTS AND MYOTUBES-MOUSE transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset.
BACH1-22875853-HELA-AND-SCP4-HUMAN Gene Set From ChEA Transcription Factor Binding Site Profiles genes with transcription factor binding evidence in the BACH1-22875853-HELA-AND-SCP4-HUMAN transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset.
EZH2-23942234-MYOBLASTS AND MYOTUBES-MOUSE Gene Set From ChEA Transcription Factor Binding Site Profiles genes with transcription factor binding evidence in the EZH2-23942234-MYOBLASTS AND MYOTUBES-MOUSE transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset.
Hypothyroidism, central, and testicular enlargement Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hypothyroidism, central, and testicular enlargement phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Trifunctional protein deficiency with myopathy and neuropathy Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Trifunctional protein deficiency with myopathy and neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Retinal dystrophy, juvenile cataracts, and short stature syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Retinal dystrophy, juvenile cataracts, and short stature syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Foveal hypoplasia and presenile cataract syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Foveal hypoplasia and presenile cataract syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Arthrogryposis, mental retardation, and seizures Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Arthrogryposis, mental retardation, and seizures phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Vater association with macrocephaly and ventriculomegaly Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Vater association with macrocephaly and ventriculomegaly phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Renal hamartomas nephroblastomatosis and fetal gigantism Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Renal hamartomas nephroblastomatosis and fetal gigantism phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Myopathy, lactic acidosis, and sideroblastic anemia 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Myopathy, lactic acidosis, and sideroblastic anemia 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Microtia, hearing impairment, and cleft palate Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Microtia, hearing impairment, and cleft palate phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Ichthyosis, spastic quadriplegia, and mental retardation Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Ichthyosis, spastic quadriplegia, and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hypermanganesemia with dystonia, polycythemia and cirrhosis Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hypermanganesemia with dystonia, polycythemia and cirrhosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Combined cellular and humoral immune defects with granulomas Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Combined cellular and humoral immune defects with granulomas phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Combined d-2- and l-2-hydroxyglutaric aciduria Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Combined d-2- and l-2-hydroxyglutaric aciduria phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Sinoatrial node dysfunction and deafness Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Sinoatrial node dysfunction and deafness phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations Gene Set From ClinVar Gene-Phenotype Associations genes associated with the T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mental retardation with language impairment and autistic features Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mental retardation with language impairment and autistic features phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Warts, hypogammaglobulinemia, infections, and myelokathexis Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Warts, hypogammaglobulinemia, infections, and myelokathexis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Fibular hypoplasia and complex brachydactyly Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Fibular hypoplasia and complex brachydactyly phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mental retardation, anterior maxillary protrusion, and strabismus Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, anterior maxillary protrusion, and strabismus 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.
Short stature, optic nerve atrophy, and pelger-huet anomaly Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Short stature, optic nerve atrophy, and pelger-huet anomaly 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.
Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Insulin-resistant diabetes mellitus AND acanthosis nigricans Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Insulin-resistant diabetes mellitus AND acanthosis nigricans phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Myasthenic syndrome, congenital, with pre- and postsynaptic defects Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Myasthenic syndrome, congenital, with pre- and postsynaptic defects phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Craniofacial anomalies and anterior segment dysgenesis syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Craniofacial anomalies and anterior segment dysgenesis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness with labyrinthine aplasia microtia and microdontia (LAMM) Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness with labyrinthine aplasia microtia and microdontia (LAMM) phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Multiple Cutaneous and Mucosal Venous Malformations Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Multiple Cutaneous and Mucosal Venous Malformations phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Neuropathy hereditary sensory and autonomic type 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Neuropathy hereditary sensory and autonomic type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Microcephaly with mental retardation and digital anomalies Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Microcephaly with mental retardation and digital anomalies phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Peripheral neuropathy, myopathy, hoarseness, and hearing loss Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Peripheral neuropathy, myopathy, hoarseness, and hearing loss phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Growth retardation, developmental delay, coarse facies, and early death Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Growth retardation, developmental delay, coarse facies, and early death phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Inflammatory skin and bowel disease, neonatal, 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Inflammatory skin and bowel disease, neonatal, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Anemia sideroblastic and spinocerebellar ataxia Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Anemia sideroblastic and spinocerebellar ataxia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Facial dysmorphism, immunodeficiency, livedo, and short stature Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Facial dysmorphism, immunodeficiency, livedo, and short stature phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, congenital heart defects, and posterior embryotoxon Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, congenital heart defects, and posterior embryotoxon phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A10 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A12 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Infertility associated with multi-tailed spermatozoa and excessive DNA Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Infertility associated with multi-tailed spermatozoa and excessive DNA phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Iris coloboma with ptosis, hypertelorism, and mental retardation Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Iris coloboma with ptosis, hypertelorism, and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Rigidity and multifocal seizure syndrome, lethal neonatal Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Rigidity and multifocal seizure syndrome, lethal neonatal phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Alopecia, neurologic defects, and endocrinopathy syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Alopecia, neurologic defects, and endocrinopathy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mullerian aplasia and hyperandrogenism Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mullerian aplasia and hyperandrogenism phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Knuckle pads, deafness AND leukonychia syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Knuckle pads, deafness AND leukonychia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE Gene Set From ClinVar Gene-Phenotype Associations genes associated with the METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Inclusion body myopathy with early-onset paget disease and frontotemporal dementia Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Inclusion body myopathy with early-onset paget disease and frontotemporal dementia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Multicentric osteolysis, nodulosis and arthropathy Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Multicentric osteolysis, nodulosis and arthropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Stapes ankylosis with broad thumb and toes Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Stapes ankylosis with broad thumb and toes phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Corneal dystrophy and perceptive deafness Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Corneal dystrophy and perceptive deafness phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay 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.
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Noonan syndrome and Noonan-related syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Noonan syndrome and Noonan-related syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Myopathy, lactic acidosis, and sideroblastic anemia 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Myopathy, lactic acidosis, and sideroblastic anemia 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Neuropathy, hereditary motor and sensory, Okinawa type Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Neuropathy, hereditary motor and sensory, Okinawa type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Microcephaly, short stature, and impaired glucose metabolism Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Microcephaly, short stature, and impaired glucose metabolism phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hemorrhagic destruction of the brain, subependymal calcification, and cataracts Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hemorrhagic destruction of the brain, subependymal calcification, and cataracts phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Jervell and Lange-Nielsen syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Jervell and Lange-Nielsen syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Macrocephaly, alopecia, cutis laxa, and scoliosis Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Macrocephaly, alopecia, cutis laxa, and scoliosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hypomyelination and Congenital Cataract Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hypomyelination and Congenital Cataract phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hirschsprung disease, cardiac defects, and autonomic dysfunction Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hirschsprung disease, cardiac defects, and autonomic dysfunction phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cardiomyopathy dilated with woolly hair and keratoderma Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cardiomyopathy dilated with woolly hair and keratoderma phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Arthrogryposis, renal dysfunction, and cholestasis 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Arthrogryposis, renal dysfunction, and cholestasis 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cataract and cardiomyopathy Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cataract and cardiomyopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Inflammatory skin and bowel disease, neonatal Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Inflammatory skin and bowel disease, neonatal phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cataract, microphthalmia and nystagmus Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cataract, microphthalmia and nystagmus phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Foveal hypoplasia and anterior segment dysgenesis Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Foveal hypoplasia and anterior segment dysgenesis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A8 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Bone fragility with contractures, arterial rupture, and deafness Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bone fragility with contractures, arterial rupture, and deafness phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Gyrate atrophy of choroid and retina with pyridoxine-responsive ornithinemia Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Gyrate atrophy of choroid and retina with pyridoxine-responsive ornithinemia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Ulna and fibula absence of with severe limb deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Ulna and fibula absence of with severe limb deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Factor v and factor viii, combined deficiency of, 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Factor v and factor viii, combined deficiency of, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Myopathy, areflexia, respiratory distress, and dysphagia, early-onset Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Myopathy, areflexia, respiratory distress, and dysphagia, early-onset phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hereditary Paragangliomas and Pheochromocytomas Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hereditary Paragangliomas and Pheochromocytomas phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
X-linked rolandic epilepsy with mental retardation and speech dyspraxia Gene Set From ClinVar Gene-Phenotype Associations genes associated with the X-linked rolandic epilepsy with mental retardation and speech dyspraxia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Band-like calcification with simplified gyration and polymicrogyria Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Band-like calcification with simplified gyration and polymicrogyria phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hypercarotenemia and vitamin a deficiency, autosomal dominant Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hypercarotenemia and vitamin a deficiency, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A14 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Microcephaly, epilepsy, and diabetes syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Microcephaly, epilepsy, and diabetes syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cerebellar ataxia and hypogonadotropic hypogonadism Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cerebellar ataxia and hypogonadotropic hypogonadism phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Epilepsy, X-linked, with variable learning disabilities and behavior disorders Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Epilepsy, X-linked, with variable learning disabilities and behavior disorders phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Harmonizome 3.0

Urticaria Due To Cold And Heat Gene Set

Urticaria Due To Cold Gene Set

Familial cold urticaria Gene Set

Familial Cold Urticaria Gene Set

Acute urticaria and angioedema (non-steroidal anti-inflammatory drug-induced) Gene Set

Acute urticaria and angioedema (non-steroidal anti-inflammatory drug-induced) Gene Set

Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. Gene Set

Fas ligand pathway and stress induction of heat shock proteins Gene Set

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

Urticaria Gene Set

urticaria Gene Set

urticaria pigmentosa Gene Set

urticaria Gene Set

physical urticaria Gene Set

allergic urticaria Gene Set

cholinergic urticaria Gene Set

urticaria Gene Set

asthma; drug hypersensitivity; hypersensitivity, immediate; urticaria Gene Set

asthma, aspirin-induced; urticaria, aspirin-intolerant Gene Set

epilepsy; stevens-johnson syndrome; urticaria pigmentosa Gene Set

drug hypersensitivity; urticaria Gene Set

drug hypersensitivity; shock; urticaria Gene Set

urticaria/angioedema Gene Set

angioedema; disease susceptibility; urticaria Gene Set

angioedema; drug hypersensitivity; urticaria Gene Set

asthma; urticaria Gene Set

disorders of excessive somnolence; fatigue; gastrointestinal diseases; respiratory tract infections; rhinitis; urticaria; xerostomia Gene Set

urticaria Gene Set

urticaria Gene Set

Urticaria Pigmentosa Gene Set

Urticaria Gene Set

Urticaria Gene Set

Acute Urticaria Gene Set

Chronic Urticaria Gene Set

Vibratory Urticaria Gene Set

Chronic Idiopathic Urticaria Gene Set

Dermodistortive Urticaria Gene Set

Dermatographic Urticaria Gene Set

Autoimmune Urticaria Gene Set

Cholinergic Urticaria Gene Set

Urticaria Pigmentosa Gene Set

Chronic Autoimmune Urticaria Gene Set

Contact Urticaria Gene Set

Solar Urticaria Gene Set

Urticaria Medicamentosa Gene Set

Urticaria Gene Set

Vibratory urticaria Gene Set

Physical urticaria Gene Set

Vibratory urticaria Gene Set

Physical urticaria Gene Set

Urticaria Gene Set

Chronic urticaria Gene Set

Chronic spontaneous urticaria Gene Set

Chronic inducible urticaria Gene Set

Cholinergic urticaria Gene Set

Allergic urticaria Gene Set

Urticaria pigmentosa Gene Set

Vibratory urticaria Gene Set

Autosomal dominant vibratory urticaria Gene Set

Cold-induced sweating syndrome 1 Gene Set

Cold-Induced Sweating Syndrome 1 Gene Set

Common Cold Gene Set

FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1 Gene Set

Familial Cold Autoinflammatory Syndrome 2 Gene Set

common cold Gene Set

common cold; otitis media; picornaviridae infections Gene Set

common cold; Gene Set

allergies; common cold Gene Set

cold Gene Set

cold acclimation Gene Set

cellular response to cold Gene Set

response to cold Gene Set

Blood pressure measurement (cold pressor test) Gene Set

cold-induced hand cramps Gene Set

cold-induced muscle cramps Gene Set

Common Cold Gene Set

Cold-shock protein, DNA-binding Gene Set

Cold shock protein Gene Set

Cold-shock conserved site Gene Set